Chromosome Position rsID Reference Alternate Source Filters - exomes Filters - genomes Consequence Protein Consequence Transcript Consequence Annotation Flags Allele Count Allele Frequency Allele Count African Allele Count Latino Allele Count Ashkenazi Jewish Allele Count East Asian Allele Count European (Finnish) Allele Count European (non-Finnish) Allele Count Other Allele Count South Asian gene constr pos altAA refAA used_in_pathogenicity_prediction protid transcript 17 48638848 rs768014195 G T gnomAD Exomes PASS NA p.Ala10Ser p.Ala10Ser c.28G>T missense_variant 4 3.52509870276368e-05 0 0 0 0 0 4 0 0 CACNA1G constrhet 10 S A 1 CACNA1G:10:A:S ENST00000359106;NM_018896.4 17 48638881 rs1052963355 C G gnomAD Exomes PASS NA p.Arg21Gly p.Arg21Gly c.61C>G missense_variant 2 1.75116014359513e-05 0 0 0 0 0 0 0 2 CACNA1G constrhet 21 G R 1 CACNA1G:21:R:G ENST00000359106;NM_018896.4 17 48638888 rs892878765 A C gnomAD Exomes PASS NA p.Asn23Thr p.Asn23Thr c.68A>C missense_variant 3 2.62297375277598e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 23 T N 1 CACNA1G:23:N:T ENST00000359106;NM_018896.4 17 48638892 rs1208505871 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp24Glu p.Asp24Glu c.72C>G missense_variant 9 6.63511301809174e-05 0 9 0 0 0 0 0 0 CACNA1G constrhet 24 E D 1 CACNA1G:24:D:E ENST00000359106;NM_018896.4 17 48638897 rs947131228 C G gnomAD Exomes PASS NA p.Ser26Trp p.Ser26Trp c.77C>G missense_variant 2 1.75021002520302e-05 2 0 0 0 0 0 0 0 CACNA1G constrhet 26 W S 1 CACNA1G:26:S:W ENST00000359106;NM_018896.4 17 48638906 rs752582722 G A gnomAD Exomes PASS NA p.Gly29Glu p.Gly29Glu c.86G>A missense_variant 2 1.73843506075831e-05 0 0 0 0 0 0 0 2 CACNA1G constrhet 29 E G 1 CACNA1G:29:G:E ENST00000359106;NM_018896.4 17 48638945 rs757289075 G A gnomAD Exomes PASS NA p.Gly42Asp p.Gly42Asp c.125G>A missense_variant 3 2.18665267208957e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 42 D G 1 CACNA1G:42:G:D ENST00000359106;NM_018896.4 17 48638951 rs778920307 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala44Val p.Ala44Val c.131C>T missense_variant 10 5.99333541102294e-05 0 0 0 10 0 0 0 0 CACNA1G constrhet 44 V A 1 CACNA1G:44:A:V ENST00000359106;NM_018896.4 17 48638966 rs1358902283 A T gnomAD Exomes PASS NA p.Glu49Val p.Glu49Val c.146A>T missense_variant 2 1.21967581016966e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 49 V E 1 CACNA1G:49:E:V ENST00000359106;NM_018896.4 17 48638975 rs1303318542 C T gnomAD Exomes PASS NA p.Pro52Leu p.Pro52Leu c.155C>T missense_variant 2 1.15972955106869e-05 1 0 0 0 0 1 0 0 CACNA1G constrhet 52 L P 1 CACNA1G:52:P:L ENST00000359106;NM_018896.4 17 48638983 rs747394020 G T gnomAD Exomes PASS NA p.Ala55Ser p.Ala55Ser c.163G>T missense_variant 4 2.23246676415105e-05 0 0 0 0 1 3 0 0 CACNA1G constrhet 55 S A 1 CACNA1G:55:A:S ENST00000359106;NM_018896.4 17 48646242 rs771649000 G A gnomAD Exomes PASS NA p.Arg85His p.Arg85His c.254G>A missense_variant 3 1.4582928251993e-05 1 0 0 1 0 0 0 1 CACNA1G constrhet 85 H R 1 CACNA1G:85:R:H ENST00000359106;NM_018896.4 17 48646250 rs1057521926 A G gnomAD Exomes PASS NA p.Met88Val p.Met88Val c.262A>G missense_variant 2 9.71383055193985e-06 0 0 0 2 0 0 0 0 CACNA1G constrhet 88 V M 1 CACNA1G:88:M:V ENST00000359106;NM_018896.4 17 48646274 rs201146969 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val96Met p.Val96Met c.286G>A missense_variant 83 0.000365551807059114 2 2 0 0 0 67 1 11 CACNA1G constrhet 96 M V 1 CACNA1G:96:V:M ENST00000359106;NM_018896.4 17 48646293 rs763813233 G A gnomAD Exomes PASS NA p.Arg102Gln p.Arg102Gln c.305G>A missense_variant 5 2.43299530918504e-05 0 0 0 0 3 2 0 0 CACNA1G constrhet 102 Q R 1 CACNA1G:102:R:Q ENST00000359106;NM_018896.4 17 48646310 rs750305086 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala108Thr p.Ala108Thr c.322G>A missense_variant 9 3.98226564366687e-05 2 1 0 0 1 5 0 0 CACNA1G constrhet 108 T A 1 CACNA1G:108:A:T ENST00000359106;NM_018896.4 17 48646332 rs781240948 G A gnomAD Exomes PASS NA p.Arg115Gln p.Arg115Gln c.344G>A missense_variant 3 1.51325612364311e-05 0 0 1 0 0 1 0 1 CACNA1G constrhet 115 Q R 1 CACNA1G:115:R:Q ENST00000359106;NM_018896.4 17 48646559 rs752802222 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val130Met p.Val130Met c.388G>A missense_variant 4 1.76008307592118e-05 0 0 0 0 0 3 0 1 CACNA1G constrhet 130 M V 1 CACNA1G:130:V:M ENST00000359106;NM_018896.4 17 48646649 rs184328705 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val160Ile p.Val160Ile c.478G>A missense_variant 15 6.59944036745684e-05 1 2 0 0 0 11 1 0 CACNA1G constrhet 160 I V 1 CACNA1G:160:V:I ENST00000359106;NM_018896.4 17 48646652 rs368561457 A T gnomAD Exomes PASS NA p.Ile161Phe p.Ile161Phe c.481A>T missense_variant 3 1.45577359809003e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 161 F I 1 CACNA1G:161:I:F ENST00000359106;NM_018896.4 17 48649257 rs754097713 C T gnomAD Exomes PASS NA p.Thr202Met p.Thr202Met c.605C>T missense_variant 2 9.70930345457017e-06 0 0 0 0 0 0 1 1 CACNA1G constrhet 202 M T 1 CACNA1G:202:T:M ENST00000359106;NM_018896.4 17 48649340 rs768796872 G A gnomAD Exomes PASS NA p.Val230Ile p.Val230Ile c.688G>A missense_variant 2 9.70609931280817e-06 0 1 0 0 1 0 0 0 CACNA1G constrhet 230 I V 1 CACNA1G:230:V:I ENST00000359106;NM_018896.4 17 48649925 rs753325385 G A gnomAD Exomes PASS NA p.Val253Met p.Val253Met c.757G>A missense_variant 2 1.41815809626457e-05 0 0 0 0 0 1 1 0 CACNA1G constrhet 253 M V 1 CACNA1G:253:V:M ENST00000359106;NM_018896.4 17 48649928 rs756783356 G A gnomAD Exomes PASS NA p.Asp254Asn p.Asp254Asn c.760G>A missense_variant 3 2.07646944821285e-05 3 0 0 0 0 0 0 0 CACNA1G constrhet 254 N D 1 CACNA1G:254:D:N ENST00000359106;NM_018896.4 17 48649991 rs781185985 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg275Cys p.Arg275Cys c.823C>T missense_variant 10 4.88200201138483e-05 1 5 1 1 0 2 0 0 CACNA1G constrhet 275 C R 1 CACNA1G:275:R:C ENST00000359106;NM_018896.4 17 48650003 rs574805259 A C gnomAD Exomes PASS NA p.Met279Leu p.Met279Leu c.835A>C missense_variant 2 1.05437407083285e-05 1 1 0 0 0 0 0 0 CACNA1G constrhet 279 L M 1 CACNA1G:279:M:L ENST00000359106;NM_018896.4 17 48650007 rs771304130 G A gnomAD Exomes PASS NA p.Arg280Gln p.Arg280Gln c.839G>A missense_variant 3 1.57376223600138e-05 0 1 0 2 0 0 0 0 CACNA1G constrhet 280 Q R 1 CACNA1G:280:R:Q ENST00000359106;NM_018896.4 17 48650028 rs200872262 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr287Met p.Thr287Met c.860C>T missense_variant 15 6.83221892251353e-05 0 1 9 0 0 4 0 1 CACNA1G constrhet 287 M T 1 CACNA1G:287:T:M ENST00000359106;NM_018896.4 17 48650033 rs761241506 C T gnomAD Exomes PASS NA p.Arg289Cys p.Arg289Cys c.865C>T missense_variant 5 2.50075022506752e-05 0 0 0 0 0 5 0 0 CACNA1G constrhet 289 C R 1 CACNA1G:289:R:C ENST00000359106;NM_018896.4 17 48650034 rs372309945 G A gnomAD Exomes PASS NA p.Arg289His p.Arg289His c.866G>A missense_variant 10 4.98444852061568e-05 0 0 0 0 0 6 0 4 CACNA1G constrhet 289 H R 1 CACNA1G:289:R:H ENST00000359106;NM_018896.4 17 48650036 rs766099998 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly290Arg p.Gly290Arg c.868G>A missense_variant 5 2.24709001842614e-05 1 0 0 0 0 2 0 2 CACNA1G constrhet 290 R G 1 CACNA1G:290:G:R ENST00000359106;NM_018896.4 17 48650042 rs577320837 G A gnomAD Exomes PASS NA p.Gly292Arg p.Gly292Arg c.874G>A missense_variant 4 1.97876782127769e-05 1 0 0 0 0 2 0 1 CACNA1G constrhet 292 R G 1 CACNA1G:292:G:R ENST00000359106;NM_018896.4 17 48650046 rs748055459 G A gnomAD Exomes PASS NA p.Gly293Asp p.Gly293Asp c.878G>A missense_variant 2 9.84930562395351e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 293 D G 1 CACNA1G:293:G:D ENST00000359106;NM_018896.4 17 48650048 rs202055246 G A gnomAD Exomes PASS NA p.Gly294Ser p.Gly294Ser c.880G>A missense_variant 3 1.47732309055991e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 294 S G 1 CACNA1G:294:G:S ENST00000359106;NM_018896.4 17 48650063 rs201875227 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly299Ser p.Gly299Ser c.895G>A missense_variant 438 0.00193843049089203 11 32 1 0 52 246 14 82 CACNA1G constrhet 299 S G 1 CACNA1G:299:G:S ENST00000359106;NM_018896.4 17 48650133 rs1187046227 A G gnomAD Exomes PASS NA p.Asn322Ser p.Asn322Ser c.965A>G missense_variant 2 9.70817233947537e-06 0 0 0 0 2 0 0 0 CACNA1G constrhet 322 S N 1 CACNA1G:322:N:S ENST00000359106;NM_018896.4 17 48650204 rs542038781 G A gnomAD Exomes PASS NA p.Ala346Thr p.Ala346Thr c.1036G>A missense_variant 2 9.78722571299939e-06 1 0 0 0 0 0 0 1 CACNA1G constrhet 346 T A 1 CACNA1G:346:A:T ENST00000359106;NM_018896.4 17 48652991 rs776457023 C T gnomAD Exomes PASS NA p.Arg410Trp p.Arg410Trp c.1228C>T missense_variant 2 9.72923537939153e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 410 W R 1 CACNA1G:410:R:W ENST00000359106;NM_018896.4 17 48652992 rs761563364 G A gnomAD Exomes PASS NA p.Arg410Gln p.Arg410Gln c.1229G>A missense_variant 2 9.72724796700518e-06 0 0 0 0 1 1 0 0 CACNA1G constrhet 410 Q R 1 CACNA1G:410:R:Q ENST00000359106;NM_018896.4 17 48652997 rs368735882 C A gnomAD Exomes PASS NA p.Gln412Lys p.Gln412Lys c.1234C>A missense_variant 2 9.72800498073855e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 412 K Q 1 CACNA1G:412:Q:K ENST00000359106;NM_018896.4 17 48653001 rs763098527 G A gnomAD Exomes PASS NA p.Arg413His p.Arg413His c.1238G>A missense_variant 2 9.73046608932568e-06 0 0 0 1 0 1 0 0 CACNA1G constrhet 413 H R 1 CACNA1G:413:R:H ENST00000359106;NM_018896.4 17 48653007 rs370667544 G A gnomAD Exomes PASS NA p.Arg415Gln p.Arg415Gln c.1244G>A missense_variant 8 3.89506689777397e-05 0 1 0 0 0 5 0 2 CACNA1G constrhet 415 Q R 1 CACNA1G:415:R:Q ENST00000359106;NM_018896.4 17 48653009 rs767819939 T C gnomAD Exomes PASS NA p.Phe416Leu p.Phe416Leu c.1246T>C missense_variant 2 9.73738278625471e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 416 L F 1 CACNA1G:416:F:L ENST00000359106;NM_018896.4 17 48653021 rs1431145850 G T gnomAD Exomes PASS NA p.Ala420Ser p.Ala420Ser c.1258G>T missense_variant 2 9.775648858693e-06 0 1 0 0 0 1 0 0 CACNA1G constrhet 420 S A 1 CACNA1G:420:A:S ENST00000359106;NM_018896.4 17 48653055 rs1365196916 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser431Asn p.Ser431Asn c.1292G>A missense_variant 2 9.16699515065957e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 431 N S 1 CACNA1G:431:S:N ENST00000359106;NM_018896.4 17 48653081 rs187034940 C G gnomAD Exomes PASS NA p.Leu440Val p.Leu440Val c.1318C>G missense_variant 3 1.65718389217257e-05 0 0 0 0 0 2 1 0 CACNA1G constrhet 440 V L 1 CACNA1G:440:L:V ENST00000359106;NM_018896.4 17 48653097 rs774336893 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg445His p.Arg445His c.1334G>A missense_variant 11 5.96393446178202e-05 2 1 0 7 0 1 0 0 CACNA1G constrhet 445 H R 1 CACNA1G:445:R:H ENST00000359106;NM_018896.4 17 48653108 rs767906351 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg449Cys p.Arg449Cys c.1345C>T missense_variant 5 2.91103865859339e-05 0 0 0 0 0 4 0 1 CACNA1G constrhet 449 C R 1 CACNA1G:449:R:C ENST00000359106;NM_018896.4 17 48653109 rs752907797 G A gnomAD Exomes PASS NA p.Arg449His p.Arg449His c.1346G>A missense_variant 6 3.98930865281047e-05 1 1 0 0 0 4 0 0 CACNA1G constrhet 449 H R 1 CACNA1G:449:R:H ENST00000359106;NM_018896.4 17 48653121 rs764322645 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln453Arg p.Gln453Arg c.1358A>G missense_variant 12 7.35844197255301e-05 11 1 0 0 0 0 0 0 CACNA1G constrhet 453 R Q 1 CACNA1G:453:Q:R ENST00000359106;NM_018896.4 17 48653130 rs116920450 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg456Leu p.Arg456Leu c.1367G>T missense_variant 9 5.67393771277266e-05 0 0 0 0 0 9 0 0 CACNA1G constrhet 456 L R 1 CACNA1G:456:R:L ENST00000359106;NM_018896.4 17 48653130 rs116920450 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg456Gln p.Arg456Gln c.1367G>A missense_variant 1099 0.00692850838481906 22 35 36 0 85 802 30 89 CACNA1G constrhet 456 Q R 1 CACNA1G:456:R:Q ENST00000359106;NM_018896.4 17 48653132 rs1321508132 G A gnomAD Exomes PASS NA p.Ala457Thr p.Ala457Thr c.1369G>A missense_variant 2 1.46124059326368e-05 0 0 0 0 0 0 0 2 CACNA1G constrhet 457 T A 1 CACNA1G:457:A:T ENST00000359106;NM_018896.4 17 48653141 rs1251561827 G A gnomAD Exomes PASS NA p.Val460Met p.Val460Met c.1378G>A missense_variant 2 1.48986889153754e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 460 M V 1 CACNA1G:460:V:M ENST00000359106;NM_018896.4 17 48653144 rs754427344 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg461Trp p.Arg461Trp c.1381C>T missense_variant 12 7.74133615462029e-05 11 1 0 0 0 0 0 0 CACNA1G constrhet 461 W R 1 CACNA1G:461:R:W ENST00000359106;NM_018896.4 17 48653145 rs747761042 G A gnomAD Exomes PASS NA p.Arg461Gln p.Arg461Gln c.1382G>A missense_variant 5 3.75037503750375e-05 0 0 0 0 0 1 1 3 CACNA1G constrhet 461 Q R 1 CACNA1G:461:R:Q ENST00000359106;NM_018896.4 17 48653148 rs999916427 T C gnomAD Exomes PASS NA p.Val462Ala p.Val462Ala c.1385T>C missense_variant 2 1.5008479791082e-05 0 1 0 0 0 1 0 0 CACNA1G constrhet 462 A V 1 CACNA1G:462:V:A ENST00000359106;NM_018896.4 17 48653165 rs538111609 C T gnomAD Exomes PASS NA p.Pro468Ser p.Pro468Ser c.1402C>T missense_variant 14 0.000106736604556128 0 0 0 0 0 0 0 14 CACNA1G constrhet 468 S P 1 CACNA1G:468:P:S ENST00000359106;NM_018896.4 17 48653177 rs1450225146 G A gnomAD Exomes PASS NA p.Gly472Arg p.Gly472Arg c.1414G>A missense_variant 3 2.31199617749965e-05 0 1 0 2 0 0 0 0 CACNA1G constrhet 472 R G 1 CACNA1G:472:G:R ENST00000359106;NM_018896.4 17 48653213 rs369529312 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg484Cys p.Arg484Cys c.1450C>T missense_variant 13 8.68879412904864e-05 8 1 0 2 0 2 0 0 CACNA1G constrhet 484 C R 1 CACNA1G:484:R:C ENST00000359106;NM_018896.4 17 48653213 rs369529312 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg484Gly p.Arg484Gly c.1450C>G missense_variant 3 2.00510633747276e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 484 G R 1 CACNA1G:484:R:G ENST00000359106;NM_018896.4 17 48653214 rs754194986 G A gnomAD Exomes PASS NA p.Arg484His p.Arg484His c.1451G>A missense_variant 4 3.10906603656262e-05 0 0 0 0 3 1 0 0 CACNA1G constrhet 484 H R 1 CACNA1G:484:R:H ENST00000359106;NM_018896.4 17 48653222 rs762233484 C T gnomAD Exomes PASS NA p.Arg487Cys p.Arg487Cys c.1459C>T missense_variant 4 3.06316240887092e-05 0 0 0 0 0 2 0 2 CACNA1G constrhet 487 C R 1 CACNA1G:487:R:C ENST00000359106;NM_018896.4 17 48653222 rs762233484 C A gnomAD Exomes PASS NA p.Arg487Ser p.Arg487Ser c.1459C>A missense_variant 2 1.53158120443546e-05 0 2 0 0 0 0 0 0 CACNA1G constrhet 487 S R 1 CACNA1G:487:R:S ENST00000359106;NM_018896.4 17 48653223 rs373257429 G A gnomAD Exomes PASS NA p.Arg487His p.Arg487His c.1460G>A missense_variant 4 3.05688869868248e-05 0 0 0 0 0 2 0 2 CACNA1G constrhet 487 H R 1 CACNA1G:487:R:H ENST00000359106;NM_018896.4 17 48653225 rs750863777 C T gnomAD Exomes PASS NA p.Arg488Cys p.Arg488Cys c.1462C>T missense_variant 3 2.2734851010943e-05 0 1 0 0 0 0 0 2 CACNA1G constrhet 488 C R 1 CACNA1G:488:R:C ENST00000359106;NM_018896.4 17 48653234 rs201788352 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val491Ile p.Val491Ile c.1471G>A missense_variant lcr 25 0.000160782043861342 0 3 0 0 0 18 1 3 CACNA1G constrhet 491 I V 1 CACNA1G:491:V:I ENST00000359106;NM_018896.4 17 48653256 rs1275967572 A T gnomAD Exomes PASS NA p.His498Leu p.His498Leu c.1493A>T missense_variant lcr 2 1.44360554921973e-05 0 0 0 0 0 0 0 2 CACNA1G constrhet 498 L H 1 CACNA1G:498:H:L ENST00000359106;NM_018896.4 17 48653264 rs750741896 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.His501Tyr p.His501Tyr c.1501C>T missense_variant lcr 2 1.24303898170247e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 501 Y H 1 CACNA1G:501:H:Y ENST00000359106;NM_018896.4 17 48653264 rs750741896 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.His501Asp p.His501Asp c.1501C>G missense_variant lcr 3 1.8645584725537e-05 0 2 0 0 0 0 1 0 CACNA1G constrhet 501 D H 1 CACNA1G:501:H:D ENST00000359106;NM_018896.4 17 48653280 rs777481463 A C gnomAD Exomes PASS NA p.His506Pro p.His506Pro c.1517A>C missense_variant 2 1.44306391330072e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 506 P H 1 CACNA1G:506:H:P ENST00000359106;NM_018896.4 17 48653295 rs757014608 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr511Met p.Thr511Met c.1532C>T missense_variant 4 2.58508149469412e-05 0 2 0 0 0 1 0 1 CACNA1G constrhet 511 M T 1 CACNA1G:511:T:M ENST00000359106;NM_018896.4 17 48653304 rs1162031318 C T gnomAD Exomes PASS NA p.Ala514Val p.Ala514Val c.1541C>T missense_variant 3 2.29277165522828e-05 0 0 0 1 1 1 0 0 CACNA1G constrhet 514 V A 1 CACNA1G:514:A:V ENST00000359106;NM_018896.4 17 48653306 rs1434973789 C T gnomAD Exomes PASS NA p.Pro515Ser p.Pro515Ser c.1543C>T missense_variant 4 3.02393444110132e-05 0 0 0 0 0 4 0 0 CACNA1G constrhet 515 S P 1 CACNA1G:515:P:S ENST00000359106;NM_018896.4 17 48653309 rs745758403 C T gnomAD Exomes PASS NA p.Arg516Trp p.Arg516Trp c.1546C>T missense_variant 9 6.94444444444444e-05 0 4 0 1 0 4 0 0 CACNA1G constrhet 516 W R 1 CACNA1G:516:R:W ENST00000359106;NM_018896.4 17 48653310 rs772296996 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg516Gln p.Arg516Gln c.1547G>A missense_variant 11 7.27724999338432e-05 0 5 1 0 0 5 0 0 CACNA1G constrhet 516 Q R 1 CACNA1G:516:R:Q ENST00000359106;NM_018896.4 17 48653319 rs757227515 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro519Leu p.Pro519Leu c.1556C>T missense_variant 13 8.59606432501058e-05 0 0 0 0 0 10 3 0 CACNA1G constrhet 519 L P 1 CACNA1G:519:P:L ENST00000359106;NM_018896.4 17 48653332 rs1290398685 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp523Glu p.Asp523Glu c.1569C>A missense_variant 2 1.31926121372032e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 523 E D 1 CACNA1G:523:D:E ENST00000359106;NM_018896.4 17 48653352 rs7222276 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg530His p.Arg530His c.1589G>A missense_variant 198 0.00129104613859837 173 21 0 0 0 1 1 2 CACNA1G constrhet 530 H R 1 CACNA1G:530:R:H ENST00000359106;NM_018896.4 17 48653355 rs773732751 G A gnomAD Exomes PASS NA p.Arg531Gln p.Arg531Gln c.1592G>A missense_variant 6 4.51752800867365e-05 1 4 0 0 0 1 0 0 CACNA1G constrhet 531 Q R 1 CACNA1G:531:R:Q ENST00000359106;NM_018896.4 17 48653376 rs1207803861 C T gnomAD Exomes PASS NA p.Ser538Leu p.Ser538Leu c.1613C>T missense_variant 2 1.44354303201778e-05 0 0 0 1 0 1 0 0 CACNA1G constrhet 538 L S 1 CACNA1G:538:S:L ENST00000359106;NM_018896.4 17 48653379 rs368633652 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr539Met p.Thr539Met c.1616C>T missense_variant 54 0.000333757741325389 3 1 0 49 0 0 1 0 CACNA1G constrhet 539 M T 1 CACNA1G:539:T:M ENST00000359106;NM_018896.4 17 48653396 rs778799229 G T gnomAD Exomes PASS NA p.Ala545Ser p.Ala545Ser c.1633G>T missense_variant 2 1.37003192174378e-05 0 0 0 0 0 1 0 1 CACNA1G constrhet 545 S A 1 CACNA1G:545:A:S ENST00000359106;NM_018896.4 17 48653396 rs778799229 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala545Pro p.Ala545Pro c.1633G>C missense_variant 81 0.00048438602576216 0 3 0 1 69 5 3 0 CACNA1G constrhet 545 P A 1 CACNA1G:545:A:P ENST00000359106;NM_018896.4 17 48653397 rs745634077 C T gnomAD Exomes PASS NA p.Ala545Val p.Ala545Val c.1634C>T missense_variant 3 2.05066509904712e-05 0 0 1 0 0 1 0 1 CACNA1G constrhet 545 V A 1 CACNA1G:545:A:V ENST00000359106;NM_018896.4 17 48653397 rs745634077 C G gnomAD Exomes PASS NA p.Ala545Gly p.Ala545Gly c.1634C>G missense_variant 3 2.05066509904712e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 545 G A 1 CACNA1G:545:A:G ENST00000359106;NM_018896.4 17 48653409 rs527691624 G A gnomAD Exomes PASS NA p.Gly549Asp p.Gly549Asp c.1646G>A missense_variant 3 1.93388685472642e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 549 D G 1 CACNA1G:549:G:D ENST00000359106;NM_018896.4 17 48653409 rs527691624 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly549Ala p.Gly549Ala c.1646G>C missense_variant 91 0.000515943212228421 20 27 1 0 0 35 6 2 CACNA1G constrhet 549 A G 1 CACNA1G:549:G:A ENST00000359106;NM_018896.4 17 48653417 rs527612343 T C gnomAD Exomes PASS NA p.Ser552Pro p.Ser552Pro c.1654T>C missense_variant 4 2.48484246098797e-05 0 3 0 0 0 0 1 0 CACNA1G constrhet 552 P S 1 CACNA1G:552:S:P ENST00000359106;NM_018896.4 17 48653418 rs1230894868 C A gnomAD Exomes PASS NA p.Ser552Tyr p.Ser552Tyr c.1655C>A missense_variant 2 1.24038700074423e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 552 Y S 1 CACNA1G:552:S:Y ENST00000359106;NM_018896.4 17 48653437 rs1187440781 T A gnomAD Exomes PASS NA p.His558Gln p.His558Gln c.1674T>A missense_variant 7 4.16602192517825e-05 0 0 0 0 7 0 0 0 CACNA1G constrhet 558 Q H 1 CACNA1G:558:H:Q ENST00000359106;NM_018896.4 17 48653462 rs60802569 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg567Cys p.Arg567Cys c.1699C>T missense_variant 520 0.0026691304794169 485 24 0 0 0 3 4 4 CACNA1G constrhet 567 C R 1 CACNA1G:567:R:C ENST00000359106;NM_018896.4 17 48653475 rs1257891112 C T gnomAD Exomes PASS NA p.Pro571Leu p.Pro571Leu c.1712C>T missense_variant 2 1.09332633604478e-05 0 0 0 0 0 1 1 0 CACNA1G constrhet 571 L P 1 CACNA1G:571:P:L ENST00000359106;NM_018896.4 17 48653484 rs1200388606 G C gnomAD Exomes PASS NA p.Arg574Thr p.Arg574Thr c.1721G>C missense_variant 3 1.59625412365649e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 574 T R 1 CACNA1G:574:R:T ENST00000359106;NM_018896.4 17 48653487 rs764951130 C T gnomAD Exomes PASS NA p.Ser575Phe p.Ser575Phe c.1724C>T missense_variant 2 1.05795476185438e-05 1 0 0 0 0 1 0 0 CACNA1G constrhet 575 F S 1 CACNA1G:575:S:F ENST00000359106;NM_018896.4 17 48653504 rs780152569 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly581Ser p.Gly581Ser c.1741G>A missense_variant 5 2.32115500673135e-05 0 0 0 0 1 4 0 0 CACNA1G constrhet 581 S G 1 CACNA1G:581:G:S ENST00000359106;NM_018896.4 17 48653508 rs755036093 G T gnomAD Exomes PASS NA p.Arg582Met p.Arg582Met c.1745G>T missense_variant 3 1.53551649656556e-05 0 2 0 0 0 1 0 0 CACNA1G constrhet 582 M R 1 CACNA1G:582:R:M ENST00000359106;NM_018896.4 17 48653522 rs770071496 G A gnomAD Exomes PASS NA p.Gly587Arg p.Gly587Arg c.1759G>A missense_variant 12 6.0723828030119e-05 0 1 0 0 0 1 0 10 CACNA1G constrhet 587 R G 1 CACNA1G:587:G:R ENST00000359106;NM_018896.4 17 48653534 rs771214256 C T gnomAD Exomes PASS NA p.Pro591Ser p.Pro591Ser c.1771C>T missense_variant 9 4.52056858707117e-05 2 5 0 0 0 2 0 0 CACNA1G constrhet 591 S P 1 CACNA1G:591:P:S ENST00000359106;NM_018896.4 17 48653540 rs372343140 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val593Met p.Val593Met c.1777G>A missense_variant 66 0.000299765637774104 1 12 31 0 0 18 4 0 CACNA1G constrhet 593 M V 1 CACNA1G:593:V:M ENST00000359106;NM_018896.4 17 48653556 rs776242955 C T gnomAD Exomes PASS NA p.Pro598Leu p.Pro598Leu c.1793C>T missense_variant 5 2.52476797382321e-05 0 0 0 0 0 0 0 5 CACNA1G constrhet 598 L P 1 CACNA1G:598:P:L ENST00000359106;NM_018896.4 17 48653559 rs531596059 C G gnomAD Exomes PASS NA p.Pro599Arg p.Pro599Arg c.1796C>G missense_variant 2 1.01277104285034e-05 2 0 0 0 0 0 0 0 CACNA1G constrhet 599 R P 1 CACNA1G:599:P:R ENST00000359106;NM_018896.4 17 48653559 rs531596059 C T gnomAD Exomes PASS NA p.Pro599Leu p.Pro599Leu c.1796C>T missense_variant 10 5.06385521425171e-05 6 1 0 0 0 0 0 3 CACNA1G constrhet 599 L P 1 CACNA1G:599:P:L ENST00000359106;NM_018896.4 17 48653565 rs1050408849 C T gnomAD Exomes PASS NA p.Thr601Met p.Thr601Met c.1802C>T missense_variant 2 1.01464127357773e-05 0 0 0 0 0 0 0 2 CACNA1G constrhet 601 M T 1 CACNA1G:601:T:M ENST00000359106;NM_018896.4 17 48653570 rs551391397 A G gnomAD Exomes PASS NA p.Lys603Glu p.Lys603Glu c.1807A>G missense_variant 30 0.000152315190901706 0 0 0 0 0 0 0 30 CACNA1G constrhet 603 E K 1 CACNA1G:603:K:E ENST00000359106;NM_018896.4 17 48653616 rs749468845 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr618Ser p.Thr618Ser c.1853C>G missense_variant 3 1.52671755725191e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 618 S T 1 CACNA1G:618:T:S ENST00000359106;NM_018896.4 17 48653642 rs200317339 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly627Arg p.Gly627Arg c.1879G>A missense_variant 255 0.00138857124187277 1 7 25 0 0 64 10 148 CACNA1G constrhet 627 R G 1 CACNA1G:627:G:R ENST00000359106;NM_018896.4 17 48653651 rs779077930 A T gnomAD Exomes PASS NA p.Ser630Cys p.Ser630Cys c.1888A>T missense_variant 6 3.75822110867523e-05 0 0 0 0 0 6 0 0 CACNA1G constrhet 630 C S 1 CACNA1G:630:S:C ENST00000359106;NM_018896.4 17 48653658 rs773021428 T C gnomAD Exomes PASS NA p.Met632Thr p.Met632Thr c.1895T>C missense_variant 2 1.28072130223742e-05 0 2 0 0 0 0 0 0 CACNA1G constrhet 632 T M 1 CACNA1G:632:M:T ENST00000359106;NM_018896.4 17 48653678 rs766099921 C G gnomAD Exomes PASS NA p.Gln639Glu p.Gln639Glu c.1915C>G missense_variant 7 4.70714814067648e-05 0 7 0 0 0 0 0 0 CACNA1G constrhet 639 E Q 1 CACNA1G:639:Q:E ENST00000359106;NM_018896.4 17 48653687 rs759240788 G A gnomAD Exomes PASS NA p.Gly642Ser p.Gly642Ser c.1924G>A missense_variant 8 5.57973440464234e-05 0 0 0 0 0 7 1 0 CACNA1G constrhet 642 S G 1 CACNA1G:642:G:S ENST00000359106;NM_018896.4 17 48655555 rs200203979 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys644Tyr p.Cys644Tyr c.1931G>A missense_variant 108 0.000533159562809158 0 3 55 1 0 38 7 4 CACNA1G constrhet 644 Y C 1 CACNA1G:644:C:Y ENST00000359106;NM_018896.4 17 48655614 rs1428220473 C G gnomAD Exomes PASS NA p.Pro664Ala p.Pro664Ala c.1990C>G missense_variant 3 1.4660320376868e-05 0 2 0 0 0 0 1 0 CACNA1G constrhet 664 A P 1 CACNA1G:664:P:A ENST00000359106;NM_018896.4 17 48655618 rs753983016 A G gnomAD Exomes PASS NA p.Asp665Gly p.Asp665Gly c.1994A>G missense_variant 2 9.76791435492694e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 665 G D 1 CACNA1G:665:D:G ENST00000359106;NM_018896.4 17 48655621 rs757313737 G T gnomAD Exomes PASS NA p.Ser666Ile p.Ser666Ile c.1997G>T missense_variant 2 9.75162608364945e-06 0 0 0 2 0 0 0 0 CACNA1G constrhet 666 I S 1 CACNA1G:666:S:I ENST00000359106;NM_018896.4 17 48655623 rs765508648 T C gnomAD Exomes PASS NA p.Cys667Arg p.Cys667Arg c.1999T>C missense_variant 3 1.46221633003197e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 667 R C 1 CACNA1G:667:C:R ENST00000359106;NM_018896.4 17 48655638 rs747347699 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg672Trp p.Arg672Trp c.2014C>T missense_variant 11 4.85732705707801e-05 0 3 0 0 0 6 1 1 CACNA1G constrhet 672 W R 1 CACNA1G:672:R:W ENST00000359106;NM_018896.4 17 48655644 rs201569320 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly674Arg p.Gly674Arg c.2020G>A missense_variant 45 0.000198561532012531 2 1 0 39 0 2 0 1 CACNA1G constrhet 674 R G 1 CACNA1G:674:G:R ENST00000359106;NM_018896.4 17 48655648 rs147741844 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala675Glu p.Ala675Glu c.2024C>A missense_variant 33 0.000145564260004235 0 0 0 32 0 0 1 0 CACNA1G constrhet 675 E A 1 CACNA1G:675:A:E ENST00000359106;NM_018896.4 17 48655665 rs765191251 G A gnomAD Exomes PASS NA p.Ala681Thr p.Ala681Thr c.2041G>A missense_variant 5 2.43197758689456e-05 1 2 0 2 0 0 0 0 CACNA1G constrhet 681 T A 1 CACNA1G:681:A:T ENST00000359106;NM_018896.4 17 48655668 rs113488484 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp682Asn p.Asp682Asn c.2044G>A missense_variant 8 3.52565797591976e-05 0 2 0 0 3 3 0 0 CACNA1G constrhet 682 N D 1 CACNA1G:682:D:N ENST00000359106;NM_018896.4 17 48655671 rs376301818 C T gnomAD Exomes PASS NA p.Arg683Cys p.Arg683Cys c.2047C>T missense_variant 25 0.000121548035783742 4 20 0 0 0 0 1 0 CACNA1G constrhet 683 C R 1 CACNA1G:683:R:C ENST00000359106;NM_018896.4 17 48655672 rs539364383 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg683His p.Arg683His c.2048G>A missense_variant 7 3.08443418258088e-05 1 1 0 0 0 3 0 2 CACNA1G constrhet 683 H R 1 CACNA1G:683:R:H ENST00000359106;NM_018896.4 17 48655684 rs778332145 A G gnomAD Exomes PASS NA p.Asp687Gly p.Asp687Gly c.2060A>G missense_variant 2 9.71977877783502e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 687 G D 1 CACNA1G:687:D:G ENST00000359106;NM_018896.4 17 48655689 rs745349567 G T gnomAD Exomes PASS NA p.Asp689Tyr p.Asp689Tyr c.2065G>T missense_variant 2 9.72081810405164e-06 0 0 0 2 0 0 0 0 CACNA1G constrhet 689 Y D 1 CACNA1G:689:D:Y ENST00000359106;NM_018896.4 17 48655693 rs61453167 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser690Asn p.Ser690Asn c.2069G>A missense_variant 61 0.000268720099382384 50 7 0 0 0 4 0 0 CACNA1G constrhet 690 N S 1 CACNA1G:690:S:N ENST00000359106;NM_018896.4 17 48655701 rs1300831967 G T gnomAD Exomes PASS NA p.Val693Phe p.Val693Phe c.2077G>T missense_variant 2 9.72091259927482e-06 0 0 0 2 0 0 0 0 CACNA1G constrhet 693 F V 1 CACNA1G:693:V:F ENST00000359106;NM_018896.4 17 48655714 rs761607106 C T gnomAD Exomes PASS NA p.Thr697Ile p.Thr697Ile c.2090C>T missense_variant 2 9.72100709633518e-06 1 0 0 0 0 1 0 0 CACNA1G constrhet 697 I T 1 CACNA1G:697:T:I ENST00000359106;NM_018896.4 17 48655734 rs369290866 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp704Asn p.Asp704Asn c.2110G>A missense_variant 6 2.64505946975375e-05 0 0 0 0 0 6 0 0 CACNA1G constrhet 704 N D 1 CACNA1G:704:D:N ENST00000359106;NM_018896.4 17 48655740 rs767949010 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg706Trp p.Arg706Trp c.2116C>T missense_variant 11 4.84871993793638e-05 0 0 0 1 0 9 0 1 CACNA1G constrhet 706 W R 1 CACNA1G:706:R:W ENST00000359106;NM_018896.4 17 48655741 rs373108084 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg706Gln p.Arg706Gln c.2117G>A missense_variant 18 7.93433893732754e-05 3 0 0 1 0 13 1 0 CACNA1G constrhet 706 Q R 1 CACNA1G:706:R:Q ENST00000359106;NM_018896.4 17 48655746 rs1188846168 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro708Ala p.Pro708Ala c.2122C>G missense_variant 3 1.32207512912267e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 708 A P 1 CACNA1G:708:P:A ENST00000359106;NM_018896.4 17 48655752 rs543673731 A T gnomAD Exomes PASS NA p.Ser710Cys p.Ser710Cys c.2128A>T missense_variant 7 3.40268325879837e-05 0 0 0 0 0 6 1 0 CACNA1G constrhet 710 C S 1 CACNA1G:710:S:C ENST00000359106;NM_018896.4 17 48655753 rs779685133 G A gnomAD Exomes PASS NA p.Ser710Asn p.Ser710Asn c.2129G>A missense_variant 2 9.72157411728107e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 710 N S 1 CACNA1G:710:S:N ENST00000359106;NM_018896.4 17 48655755 rs2301833 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg711Trp p.Arg711Trp c.2131C>T missense_variant 13 5.72803299347004e-05 0 2 0 7 0 4 0 0 CACNA1G constrhet 711 W R 1 CACNA1G:711:R:W ENST00000359106;NM_018896.4 17 48655756 rs768461820 G A gnomAD Exomes PASS NA p.Arg711Gln p.Arg711Gln c.2132G>A missense_variant 5 2.4309843541847e-05 0 0 0 0 0 3 0 2 CACNA1G constrhet 711 Q R 1 CACNA1G:711:R:Q ENST00000359106;NM_018896.4 17 48655758 rs781006063 C T gnomAD Exomes PASS NA p.Arg712Trp p.Arg712Trp c.2134C>T missense_variant 23 0.000111827455098846 2 2 0 0 0 0 1 18 CACNA1G constrhet 712 W R 1 CACNA1G:712:R:W ENST00000359106;NM_018896.4 17 48655759 rs369974810 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg712Gln p.Arg712Gln c.2135G>A missense_variant 16 7.0503838052684e-05 13 0 0 0 0 0 0 3 CACNA1G constrhet 712 Q R 1 CACNA1G:712:R:Q ENST00000359106;NM_018896.4 17 48655764 rs201270381 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg714Trp p.Arg714Trp c.2140C>T missense_variant 55 0.000242356943306101 25 1 0 1 0 6 1 21 CACNA1G constrhet 714 W R 1 CACNA1G:714:R:W ENST00000359106;NM_018896.4 17 48655765 rs762949893 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg714Gln p.Arg714Gln c.2141G>A missense_variant 7 3.08448854773466e-05 0 0 0 0 1 6 0 0 CACNA1G constrhet 714 Q R 1 CACNA1G:714:R:Q ENST00000359106;NM_018896.4 17 48655768 rs181244511 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser715Ile p.Ser715Ile c.2144G>T missense_variant 39 0.000171877341277886 37 1 0 0 0 1 0 0 CACNA1G constrhet 715 I S 1 CACNA1G:715:S:I ENST00000359106;NM_018896.4 17 48655773 rs370781662 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly717Ser p.Gly717Ser c.2149G>A missense_variant 9 3.96619043002318e-05 0 0 0 0 0 9 0 0 CACNA1G constrhet 717 S G 1 CACNA1G:717:G:S ENST00000359106;NM_018896.4 17 48655776 rs1230865139 C T gnomAD Exomes PASS NA p.Pro718Ser p.Pro718Ser c.2152C>T missense_variant 2 9.72488305828122e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 718 S P 1 CACNA1G:718:P:S ENST00000359106;NM_018896.4 17 48655781 rs775781360 T G gnomAD Exomes PASS NA p.Asp719Glu p.Asp719Glu c.2157T>G missense_variant 5 2.43105527247267e-05 0 1 0 0 0 4 0 0 CACNA1G constrhet 719 E D 1 CACNA1G:719:D:E ENST00000359106;NM_018896.4 17 48655782 rs761091393 G T gnomAD Exomes PASS NA p.Ala720Ser p.Ala720Ser c.2158G>T missense_variant 2 9.72677489324865e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 720 S A 1 CACNA1G:720:A:S ENST00000359106;NM_018896.4 17 48655783 rs375340959 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala720Gly p.Ala720Gly c.2159C>G missense_variant 2 8.81709811666784e-06 2 0 0 0 0 0 0 0 CACNA1G constrhet 720 G A 1 CACNA1G:720:A:G ENST00000359106;NM_018896.4 17 48655828 rs757935818 C A gnomAD Exomes PASS NA p.Thr735Asn p.Thr735Asn c.2204C>A missense_variant 2 1.01460009537241e-05 1 0 1 0 0 0 0 0 CACNA1G constrhet 735 N T 1 CACNA1G:735:T:N ENST00000359106;NM_018896.4 17 48655833 rs1449762398 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg737Gly p.Arg737Gly c.2209C>G missense_variant 2 9.15398839274272e-06 2 0 0 0 0 0 0 0 CACNA1G constrhet 737 G R 1 CACNA1G:737:R:G ENST00000359106;NM_018896.4 17 48655834 rs537429256 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg737Gln p.Arg737Gln c.2210G>A missense_variant 58 0.000265723500952939 29 26 0 0 1 0 2 0 CACNA1G constrhet 737 Q R 1 CACNA1G:737:R:Q ENST00000359106;NM_018896.4 17 48655839 rs577587435 A G gnomAD Exomes PASS NA p.Ile739Val p.Ile739Val c.2215A>G missense_variant 4 2.03701251744192e-05 0 0 0 4 0 0 0 0 CACNA1G constrhet 739 V I 1 CACNA1G:739:I:V ENST00000359106;NM_018896.4 17 48655840 rs747907009 T C gnomAD Exomes PASS NA p.Ile739Thr p.Ile739Thr c.2216T>C missense_variant 6 3.05835338253884e-05 3 0 0 3 0 0 0 0 CACNA1G constrhet 739 T I 1 CACNA1G:739:I:T ENST00000359106;NM_018896.4 17 48655864 rs1234012095 G A gnomAD Exomes PASS NA p.Arg747Gln p.Arg747Gln c.2240G>A missense_variant 4 2.14626817620862e-05 0 4 0 0 0 0 0 0 CACNA1G constrhet 747 Q R 1 CACNA1G:747:R:Q ENST00000359106;NM_018896.4 17 48667848 rs768739223 A G gnomAD Exomes PASS NA p.Asn773Ser p.Asn773Ser c.2318A>G missense_variant segdup 2 9.70713571546444e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 773 S N 1 CACNA1G:773:N:S ENST00000359106;NM_018896.4 17 48667850 rs562004080 G A gnomAD Exomes PASS NA p.Ala774Thr p.Ala774Thr c.2320G>A missense_variant segdup 3 1.45604208932333e-05 1 0 0 0 0 2 0 0 CACNA1G constrhet 774 T A 1 CACNA1G:774:A:T ENST00000359106;NM_018896.4 17 48667851 rs770298211 C T gnomAD Exomes PASS NA p.Ala774Val p.Ala774Val c.2321C>T missense_variant segdup 3 1.45584424407714e-05 0 3 0 0 0 0 0 0 CACNA1G constrhet 774 V A 1 CACNA1G:774:A:V ENST00000359106;NM_018896.4 17 48667871 rs774433052 G A gnomAD Exomes PASS NA p.Val781Ile p.Val781Ile c.2341G>A missense_variant segdup 11 5.33819918277023e-05 0 7 0 0 0 4 0 0 CACNA1G constrhet 781 I V 1 CACNA1G:781:V:I ENST00000359106;NM_018896.4 17 48667890 rs763645153 C T gnomAD Exomes PASS NA p.Ala787Val p.Ala787Val c.2360C>T missense_variant segdup 15 7.27950382901901e-05 0 0 0 0 0 0 0 15 CACNA1G constrhet 787 V A 1 CACNA1G:787:A:V ENST00000359106;NM_018896.4 17 48668861 rs756391037 G A gnomAD Exomes PASS NA p.Arg840His p.Arg840His c.2519G>A missense_variant segdup 2 1.00712034080952e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 840 H R 1 CACNA1G:840:R:H ENST00000359106;NM_018896.4 17 48668891 rs779508150 C T gnomAD Exomes PASS NA p.Ala850Val p.Ala850Val c.2549C>T missense_variant segdup 2 9.86047428881329e-06 0 0 0 0 1 1 0 0 CACNA1G constrhet 850 V A 1 CACNA1G:850:A:V ENST00000359106;NM_018896.4 17 48669144 rs1468000824 G A gnomAD Exomes PASS NA p.Arg895Gln p.Arg895Gln c.2684G>A missense_variant segdup 6 2.91168848815428e-05 0 1 0 2 0 0 1 2 CACNA1G constrhet 895 Q R 1 CACNA1G:895:R:Q ENST00000359106;NM_018896.4 17 48669146 rs775432895 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp896His p.Asp896His c.2686G>C missense_variant segdup 3 1.31970227516672e-05 2 0 0 0 0 1 0 0 CACNA1G constrhet 896 H D 1 CACNA1G:896:D:H ENST00000359106;NM_018896.4 17 48669449 rs781013378 C T gnomAD Exomes PASS NA p.Ala969Val p.Ala969Val c.2906C>T missense_variant segdup 2 9.82636807609539e-06 0 0 0 0 1 1 0 0 CACNA1G constrhet 969 V A 1 CACNA1G:969:A:V ENST00000359106;NM_018896.4 17 48669449 rs781013378 C G gnomAD Exomes PASS NA p.Ala969Gly p.Ala969Gly c.2906C>G missense_variant segdup 2 9.82636807609539e-06 1 0 0 0 0 1 0 0 CACNA1G constrhet 969 G A 1 CACNA1G:969:A:G ENST00000359106;NM_018896.4 17 48672366 rs201831777 C T gnomAD Exomes PASS NA p.Arg975Trp p.Arg975Trp c.2923C>T missense_variant 5 3.65946483986182e-05 1 0 0 0 0 3 1 0 CACNA1G constrhet 975 W R 1 CACNA1G:975:R:W ENST00000359106;NM_018896.4 17 48672367 rs756134256 G A gnomAD Exomes PASS NA p.Arg975Gln p.Arg975Gln c.2924G>A missense_variant 6 4.38263308595804e-05 1 1 0 0 1 3 0 0 CACNA1G constrhet 975 Q R 1 CACNA1G:975:R:Q ENST00000359106;NM_018896.4 17 48672411 rs572484516 G A gnomAD Exomes PASS NA p.Asp990Asn p.Asp990Asn c.2968G>A missense_variant 9 6.64873969445347e-05 1 1 0 5 0 2 0 0 CACNA1G constrhet 990 N D 1 CACNA1G:990:D:N ENST00000359106;NM_018896.4 17 48673933 rs758910907 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn997Ser p.Asn997Ser c.2990A>G missense_variant 25 0.000109980995284015 1 2 0 0 0 18 2 2 CACNA1G constrhet 997 S N 1 CACNA1G:997:N:S ENST00000359106;NM_018896.4 17 48673941 rs767199248 G A gnomAD Exomes PASS NA p.Glu1000Lys p.Glu1000Lys c.2998G>A missense_variant 2 9.70591089973794e-06 0 1 0 1 0 0 0 0 CACNA1G constrhet 1000 K E 1 CACNA1G:1000:E:K ENST00000359106;NM_018896.4 17 48673943 rs201323872 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1000Asp p.Glu1000Asp c.3000A>C missense_variant 25 0.000109978092364001 0 4 0 0 0 21 0 0 CACNA1G constrhet 1000 D E 1 CACNA1G:1000:E:D ENST00000359106;NM_018896.4 17 48673948 rs1410452496 A G gnomAD Exomes PASS NA p.Glu1002Gly p.Glu1002Gly c.3005A>G missense_variant 2 9.70487475859124e-06 1 0 0 0 0 1 0 0 CACNA1G constrhet 1002 G E 1 CACNA1G:1002:E:G ENST00000359106;NM_018896.4 17 48673951 rs764027191 C G gnomAD Exomes PASS NA p.Pro1003Arg p.Pro1003Arg c.3008C>G missense_variant 6 2.91149068322981e-05 0 0 0 0 0 0 0 6 CACNA1G constrhet 1003 R P 1 CACNA1G:1003:P:R ENST00000359106;NM_018896.4 17 48673953 rs377336879 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1004Asn p.Asp1004Asn c.3010G>A missense_variant 10 4.39893018018018e-05 1 0 0 0 0 8 1 0 CACNA1G constrhet 1004 N D 1 CACNA1G:1004:D:N ENST00000359106;NM_018896.4 17 48673974 rs1197656926 G A gnomAD Exomes PASS NA p.Asp1011Asn p.Asp1011Asn c.3031G>A missense_variant 2 9.70506313143567e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1011 N D 1 CACNA1G:1011:D:N ENST00000359106;NM_018896.4 17 48673976 rs747186451 T A gnomAD Exomes PASS NA p.Asp1011Glu p.Asp1011Glu c.3033T>A missense_variant 4 1.94101262628713e-05 0 4 0 0 0 0 0 0 CACNA1G constrhet 1011 E D 1 CACNA1G:1011:D:E ENST00000359106;NM_018896.4 17 48673977 rs755172561 G T gnomAD Exomes PASS NA p.Gly1012Cys p.Gly1012Cys c.3034G>T missense_variant 4 1.9410691408828e-05 0 4 0 0 0 0 0 0 CACNA1G constrhet 1012 C G 1 CACNA1G:1012:G:C ENST00000359106;NM_018896.4 17 48673978 rs201149829 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1012Asp p.Gly1012Asp c.3035G>A missense_variant 44 0.000193546116761094 0 1 0 0 1 41 1 0 CACNA1G constrhet 1012 D G 1 CACNA1G:1012:G:D ENST00000359106;NM_018896.4 17 48673986 rs368133994 G A gnomAD Exomes PASS NA p.Asp1015Asn p.Asp1015Asn c.3043G>A missense_variant 4 1.94097495171825e-05 4 0 0 0 0 0 0 0 CACNA1G constrhet 1015 N D 1 CACNA1G:1015:D:N ENST00000359106;NM_018896.4 17 48673987 rs1475703572 A G gnomAD Exomes PASS NA p.Asp1015Gly p.Asp1015Gly c.3044A>G missense_variant 3 1.45577359809003e-05 0 0 0 2 0 0 0 1 CACNA1G constrhet 1015 G D 1 CACNA1G:1015:D:G ENST00000359106;NM_018896.4 17 48674005 rs745410924 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1021Asp p.Ala1021Asp c.3062C>A missense_variant 2 8.80002816009011e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1021 D A 1 CACNA1G:1021:A:D ENST00000359106;NM_018896.4 17 48674112 rs775210871 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1029Leu p.Pro1029Leu c.3086C>T missense_variant 6 2.66335227272727e-05 0 0 0 3 0 2 0 1 CACNA1G constrhet 1029 L P 1 CACNA1G:1029:P:L ENST00000359106;NM_018896.4 17 48674120 rs768440044 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1032Trp p.Arg1032Trp c.3094C>T missense_variant 6 2.66586098423588e-05 1 1 1 0 1 2 0 0 CACNA1G constrhet 1032 W R 1 CACNA1G:1032:R:W ENST00000359106;NM_018896.4 17 48674121 rs1296396766 G A gnomAD Genomes NA PASS p.Arg1032Gln p.Arg1032Gln c.3095G>A missense_variant 3 0.000141429379596455 0 0 0 0 0 3 0 0 CACNA1G constrhet 1032 Q R 1 CACNA1G:1032:R:Q ENST00000359106;NM_018896.4 17 48674133 rs761732446 T G gnomAD Exomes PASS NA p.Leu1036Arg p.Leu1036Arg c.3107T>G missense_variant 6 2.95977663552324e-05 1 0 0 0 0 1 0 4 CACNA1G constrhet 1036 R L 1 CACNA1G:1036:L:R ENST00000359106;NM_018896.4 17 48674181 rs756334733 A G gnomAD Exomes PASS NA p.Lys1052Arg p.Lys1052Arg c.3155A>G missense_variant 2 1.01658042676046e-05 0 2 0 0 0 0 0 0 CACNA1G constrhet 1052 R K 1 CACNA1G:1052:K:R ENST00000359106;NM_018896.4 17 48674186 rs778037681 A T gnomAD Exomes PASS NA p.Thr1054Ser p.Thr1054Ser c.3160A>T missense_variant 10 5.13827086908713e-05 0 0 0 0 0 0 0 10 CACNA1G constrhet 1054 S T 1 CACNA1G:1054:T:S ENST00000359106;NM_018896.4 17 48674193 rs555798090 C T gnomAD Exomes PASS NA p.Thr1056Met p.Thr1056Met c.3167C>T missense_variant 15 7.8832024721723e-05 0 2 0 1 0 1 1 10 CACNA1G constrhet 1056 M T 1 CACNA1G:1056:T:M ENST00000359106;NM_018896.4 17 48674208 rs781015006 C T gnomAD Exomes PASS NA p.Ala1061Val p.Ala1061Val c.3182C>T missense_variant 2 1.08103433365044e-05 1 0 0 0 0 1 0 0 CACNA1G constrhet 1061 V A 1 CACNA1G:1061:A:V ENST00000359106;NM_018896.4 17 48674214 rs769458368 G C gnomAD Exomes PASS NA p.Gly1063Ala p.Gly1063Ala c.3188G>C missense_variant 3 1.66524195965674e-05 0 1 0 0 0 2 0 0 CACNA1G constrhet 1063 A G 1 CACNA1G:1063:G:A ENST00000359106;NM_018896.4 17 48674220 rs377426630 C T gnomAD Exomes PASS NA p.Ala1065Val p.Ala1065Val c.3194C>T missense_variant 10 5.64155797264973e-05 0 8 0 0 1 1 0 0 CACNA1G constrhet 1065 V A 1 CACNA1G:1065:A:V ENST00000359106;NM_018896.4 17 48674220 rs377426630 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1065Glu p.Ala1065Glu c.3194C>A missense_variant 10 5.03793565548581e-05 0 0 0 10 0 0 0 0 CACNA1G constrhet 1065 E A 1 CACNA1G:1065:A:E ENST00000359106;NM_018896.4 17 48674223 rs577659325 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1066Leu p.Ser1066Leu c.3197C>T missense_variant 9 4.56098030670059e-05 7 1 0 0 0 0 0 1 CACNA1G constrhet 1066 L S 1 CACNA1G:1066:S:L ENST00000359106;NM_018896.4 17 48674225 rs760870810 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1067Cys p.Arg1067Cys c.3199C>T missense_variant 3 1.52003404876269e-05 2 1 0 0 0 0 0 0 CACNA1G constrhet 1067 C R 1 CACNA1G:1067:R:C ENST00000359106;NM_018896.4 17 48674226 rs369751310 G A gnomAD Exomes PASS NA p.Arg1067His p.Arg1067His c.3200G>A missense_variant 5 2.85697960116565e-05 1 1 2 0 0 1 0 0 CACNA1G constrhet 1067 H R 1 CACNA1G:1067:R:H ENST00000359106;NM_018896.4 17 48674228 rs754170584 C T gnomAD Exomes PASS NA p.Arg1068Cys p.Arg1068Cys c.3202C>T missense_variant 6 3.40580121473577e-05 1 2 0 0 1 1 0 1 CACNA1G constrhet 1068 C R 1 CACNA1G:1068:R:C ENST00000359106;NM_018896.4 17 48674231 rs913245207 A C gnomAD Exomes PASS NA p.Thr1069Pro p.Thr1069Pro c.3205A>C missense_variant 2 1.13600218112419e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 1069 P T 1 CACNA1G:1069:T:P ENST00000359106;NM_018896.4 17 48674247 rs540523933 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1074Leu p.Ser1074Leu c.3221C>T missense_variant 6 3.14911037631869e-05 0 0 0 1 0 1 0 4 CACNA1G constrhet 1074 L S 1 CACNA1G:1074:S:L ENST00000359106;NM_018896.4 17 48674254 rs1251689080 G T gnomAD Exomes PASS NA p.Glu1076Asp p.Glu1076Asp c.3228G>T missense_variant 2 1.24146492861577e-05 0 1 0 0 0 1 0 0 CACNA1G constrhet 1076 D E 1 CACNA1G:1076:E:D ENST00000359106;NM_018896.4 17 48674262 rs750912303 C T gnomAD Exomes PASS NA p.Ala1079Val p.Ala1079Val c.3236C>T missense_variant 3 1.91666347222755e-05 1 1 0 0 0 1 0 0 CACNA1G constrhet 1079 V A 1 CACNA1G:1079:A:V ENST00000359106;NM_018896.4 17 48674269 rs780890478 C A gnomAD Exomes PASS NA p.His1081Gln p.His1081Gln c.3243C>A missense_variant 7 4.56394742332568e-05 0 0 0 2 0 5 0 0 CACNA1G constrhet 1081 Q H 1 CACNA1G:1081:H:Q ENST00000359106;NM_018896.4 17 48676795 rs57225302 G T gnomAD Exomes PASS NA p.Ala1089Ser p.Ala1089Ser c.3265G>T missense_variant 2 1.5551615812883e-05 0 0 0 1 0 1 0 0 CACNA1G constrhet 1089 S A 1 CACNA1G:1089:A:S ENST00000359106;NM_018896.4 17 48676795 rs57225302 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1089Thr p.Ala1089Thr c.3265G>A missense_variant 55 0.000367009208594688 1 0 0 0 0 52 2 0 CACNA1G constrhet 1089 T A 1 CACNA1G:1089:A:T ENST00000359106;NM_018896.4 17 48676798 rs954245034 C T gnomAD Exomes PASS NA p.Arg1090Cys p.Arg1090Cys c.3268C>T missense_variant 3 2.2962815547357e-05 0 0 0 2 0 0 0 1 CACNA1G constrhet 1090 C R 1 CACNA1G:1090:R:C ENST00000359106;NM_018896.4 17 48676808 rs1422686570 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1093Leu p.Pro1093Leu c.3278C>T missense_variant 2 1.25101645086633e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 1093 L P 1 CACNA1G:1093:P:L ENST00000359106;NM_018896.4 17 48676816 rs374350292 C A gnomAD Exomes PASS NA p.Pro1096Thr p.Pro1096Thr c.3286C>A missense_variant 5 3.38372832722006e-05 0 0 0 0 0 5 0 0 CACNA1G constrhet 1096 T P 1 CACNA1G:1096:P:T ENST00000359106;NM_018896.4 17 48676823 rs1350363920 G A gnomAD Genomes NA PASS p.Ser1098Asn p.Ser1098Asn c.3293G>A missense_variant 2 9.40733772342427e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 1098 N S 1 CACNA1G:1098:S:N ENST00000359106;NM_018896.4 17 48676825 rs58240016 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1099Thr p.Ala1099Thr c.3295G>A missense_variant 227 0.00128814790434792 189 17 0 6 2 5 1 7 CACNA1G constrhet 1099 T A 1 CACNA1G:1099:A:T ENST00000359106;NM_018896.4 17 48676849 rs373614568 C T gnomAD Exomes PASS NA p.Arg1107Cys p.Arg1107Cys c.3319C>T missense_variant 4 2.27681519091095e-05 2 1 0 0 0 0 0 1 CACNA1G constrhet 1107 C R 1 CACNA1G:1107:R:C ENST00000359106;NM_018896.4 17 48676850 rs778744463 G A gnomAD Exomes PASS NA p.Arg1107His p.Arg1107His c.3320G>A missense_variant 2 1.12146598032949e-05 0 0 0 0 0 0 0 2 CACNA1G constrhet 1107 H R 1 CACNA1G:1107:R:H ENST00000359106;NM_018896.4 17 48676858 rs772013231 C G gnomAD Exomes PASS NA p.Arg1110Gly p.Arg1110Gly c.3328C>G missense_variant 2 1.06811360456298e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 1110 G R 1 CACNA1G:1110:R:G ENST00000359106;NM_018896.4 17 48676858 rs772013231 C T gnomAD Exomes PASS NA p.Arg1110Trp p.Arg1110Trp c.3328C>T missense_variant 4 2.13622720912596e-05 1 1 0 2 0 0 0 0 CACNA1G constrhet 1110 W R 1 CACNA1G:1110:R:W ENST00000359106;NM_018896.4 17 48676859 rs199655132 G A gnomAD Exomes PASS NA p.Arg1110Gln p.Arg1110Gln c.3329G>A missense_variant 3 1.59369322467887e-05 0 2 0 0 0 1 0 0 CACNA1G constrhet 1110 Q R 1 CACNA1G:1110:R:Q ENST00000359106;NM_018896.4 17 48676873 rs762167717 C T gnomAD Exomes PASS NA p.Arg1115Cys p.Arg1115Cys c.3343C>T missense_variant 2 1.01563055422959e-05 0 0 1 1 0 0 0 0 CACNA1G constrhet 1115 C R 1 CACNA1G:1115:R:C ENST00000359106;NM_018896.4 17 48676874 rs765552890 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1115His p.Arg1115His c.3344G>A missense_variant 8 3.662735330745e-05 0 0 0 1 0 7 0 0 CACNA1G constrhet 1115 H R 1 CACNA1G:1115:R:H ENST00000359106;NM_018896.4 17 48676886 rs763340278 T C gnomAD Exomes PASS NA p.Leu1119Pro p.Leu1119Pro c.3356T>C missense_variant 5 2.48679511792382e-05 0 2 0 0 0 3 0 0 CACNA1G constrhet 1119 P L 1 CACNA1G:1119:L:P ENST00000359106;NM_018896.4 17 48676892 rs370349028 G A gnomAD Exomes PASS NA p.Arg1121Gln p.Arg1121Gln c.3362G>A missense_variant 8 3.96420324470036e-05 0 2 0 2 0 1 1 2 CACNA1G constrhet 1121 Q R 1 CACNA1G:1121:R:Q ENST00000359106;NM_018896.4 17 48676912 rs756958701 C T gnomAD Exomes PASS NA p.Arg1128Trp p.Arg1128Trp c.3382C>T missense_variant 2 9.92772615360178e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1128 W R 1 CACNA1G:1128:R:W ENST00000359106;NM_018896.4 17 48676913 rs778481197 G A gnomAD Exomes PASS NA p.Arg1128Gln p.Arg1128Gln c.3383G>A missense_variant 5 2.47698877428687e-05 1 0 0 1 0 1 0 2 CACNA1G constrhet 1128 Q R 1 CACNA1G:1128:R:Q ENST00000359106;NM_018896.4 17 48676928 rs758152538 C T gnomAD Exomes PASS NA p.Ser1133Leu p.Ser1133Leu c.3398C>T missense_variant 2 9.90609026429449e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1133 L S 1 CACNA1G:1133:S:L ENST00000359106;NM_018896.4 17 48676960 rs773526768 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1144Lys p.Glu1144Lys c.3430G>A missense_variant 8 3.56468113927209e-05 0 0 0 0 0 8 0 0 CACNA1G constrhet 1144 K E 1 CACNA1G:1144:E:K ENST00000359106;NM_018896.4 17 48676971 rs375496086 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1147Asp p.Glu1147Asp c.3441A>C missense_variant 43 0.000191646016436989 3 4 0 0 0 35 1 0 CACNA1G constrhet 1147 D E 1 CACNA1G:1147:E:D ENST00000359106;NM_018896.4 17 48676978 rs774544263 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1150Trp p.Arg1150Trp c.3448C>T missense_variant 5 2.23451703148881e-05 0 0 0 0 0 3 0 2 CACNA1G constrhet 1150 W R 1 CACNA1G:1150:R:W ENST00000359106;NM_018896.4 17 48676979 rs760153204 G A gnomAD Exomes PASS NA p.Arg1150Gln p.Arg1150Gln c.3449G>A missense_variant 7 3.45215315724064e-05 1 3 0 0 0 3 0 0 CACNA1G constrhet 1150 Q R 1 CACNA1G:1150:R:Q ENST00000359106;NM_018896.4 17 48676990 rs767894920 G A gnomAD Exomes PASS NA p.Ala1154Thr p.Ala1154Thr c.3460G>A missense_variant 3 1.48159854605796e-05 0 2 0 0 0 0 0 1 CACNA1G constrhet 1154 T A 1 CACNA1G:1154:A:T ENST00000359106;NM_018896.4 17 48677005 rs779939904 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1159Cys p.Arg1159Cys c.3475C>T missense_variant 11 4.91848725217531e-05 0 3 0 1 0 3 0 4 CACNA1G constrhet 1159 C R 1 CACNA1G:1159:R:C ENST00000359106;NM_018896.4 17 48677006 rs181588882 G A gnomAD Exomes PASS NA p.Arg1159His p.Arg1159His c.3476G>A missense_variant 2 9.88425536962173e-06 1 0 0 0 0 1 0 0 CACNA1G constrhet 1159 H R 1 CACNA1G:1159:R:H ENST00000359106;NM_018896.4 17 48677017 rs748267679 T C gnomAD Exomes PASS NA p.Ser1163Pro p.Ser1163Pro c.3487T>C missense_variant 3 1.48050179140717e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 1163 P S 1 CACNA1G:1163:S:P ENST00000359106;NM_018896.4 17 48677026 rs372375481 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1166Trp p.Arg1166Trp c.3496C>T missense_variant 18 8.04002144005717e-05 1 10 0 0 0 0 0 7 CACNA1G constrhet 1166 W R 1 CACNA1G:1166:R:W ENST00000359106;NM_018896.4 17 48677026 rs372375481 C G gnomAD Exomes PASS NA p.Arg1166Gly p.Arg1166Gly c.3496C>G missense_variant 2 9.87010936081172e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1166 G R 1 CACNA1G:1166:R:G ENST00000359106;NM_018896.4 17 48677027 rs41280124 G A gnomAD Exomes PASS NA p.Arg1166Gln p.Arg1166Gln c.3497G>A missense_variant 8 3.94706979406163e-05 3 3 0 0 0 2 0 0 CACNA1G constrhet 1166 Q R 1 CACNA1G:1166:R:Q ENST00000359106;NM_018896.4 17 48677042 rs759759601 C T gnomAD Exomes PASS NA p.Ser1171Phe p.Ser1171Phe c.3512C>T missense_variant 2 9.83342183412984e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1171 F S 1 CACNA1G:1171:S:F ENST00000359106;NM_018896.4 17 48677071 rs775937691 C T gnomAD Exomes PASS NA p.Pro1181Ser p.Pro1181Ser c.3541C>T missense_variant 2 9.81113563895021e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 1181 S P 1 CACNA1G:1181:P:S ENST00000359106;NM_018896.4 17 48677081 rs764776523 A G gnomAD Exomes PASS NA p.His1184Arg p.His1184Arg c.3551A>G missense_variant 5 2.4494914855676e-05 0 5 0 0 0 0 0 0 CACNA1G constrhet 1184 R H 1 CACNA1G:1184:H:R ENST00000359106;NM_018896.4 17 48677083 rs573971701 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1185Cys p.Arg1185Cys c.3553C>T missense_variant 15 6.65684412333801e-05 1 1 9 0 0 0 1 3 CACNA1G constrhet 1185 C R 1 CACNA1G:1185:R:C ENST00000359106;NM_018896.4 17 48677084 rs961655809 G A gnomAD Exomes PASS NA p.Arg1185His p.Arg1185His c.3554G>A missense_variant 3 1.47019906495339e-05 0 0 0 3 0 0 0 0 CACNA1G constrhet 1185 H R 1 CACNA1G:1185:R:H ENST00000359106;NM_018896.4 17 48677086 rs367896671 A G gnomAD Exomes PASS NA p.Thr1186Ala p.Thr1186Ala c.3556A>G missense_variant 2 9.78885441036836e-06 2 0 0 0 0 0 0 0 CACNA1G constrhet 1186 A T 1 CACNA1G:1186:T:A ENST00000359106;NM_018896.4 17 48677099 rs199761120 G A gnomAD Exomes PASS NA p.Arg1190Gln p.Arg1190Gln c.3569G>A missense_variant 4 1.95551209973112e-05 0 2 0 0 0 0 0 2 CACNA1G constrhet 1190 Q R 1 CACNA1G:1190:R:Q ENST00000359106;NM_018896.4 17 48677099 rs199761120 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1190Pro p.Arg1190Pro c.3569G>C missense_variant 18 7.9713739105789e-05 0 2 0 0 0 15 1 0 CACNA1G constrhet 1190 P R 1 CACNA1G:1190:R:P ENST00000359106;NM_018896.4 17 48677150 rs545668335 G T gnomAD Exomes PASS NA p.Arg1207Leu p.Arg1207Leu c.3620G>T missense_variant 5 2.45475879540076e-05 0 0 0 0 0 1 0 4 CACNA1G constrhet 1207 L R 1 CACNA1G:1207:R:L ENST00000359106;NM_018896.4 17 48677158 rs772770633 C T gnomAD Exomes PASS NA p.Arg1210Trp p.Arg1210Trp c.3628C>T missense_variant 7 3.44674774730415e-05 0 0 0 2 0 2 0 3 CACNA1G constrhet 1210 W R 1 CACNA1G:1210:R:W ENST00000359106;NM_018896.4 17 48677159 rs762314651 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1210Gln p.Arg1210Gln c.3629G>A missense_variant 4 1.78358035921308e-05 3 0 0 0 0 1 0 0 CACNA1G constrhet 1210 Q R 1 CACNA1G:1210:R:Q ENST00000359106;NM_018896.4 17 48677167 rs528237932 C T gnomAD Exomes PASS NA p.Arg1213Trp p.Arg1213Trp c.3637C>T missense_variant 4 1.97704649024822e-05 2 1 0 0 1 0 0 0 CACNA1G constrhet 1213 W R 1 CACNA1G:1213:R:W ENST00000359106;NM_018896.4 17 48677168 rs372056738 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1213Gln p.Arg1213Gln c.3638G>A missense_variant 44 0.000196762364725874 0 3 0 0 0 1 2 38 CACNA1G constrhet 1213 Q R 1 CACNA1G:1213:R:Q ENST00000359106;NM_018896.4 17 48677170 rs752531872 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1214Ser p.Pro1214Ser c.3640C>T missense_variant 3 1.34350816852966e-05 0 0 0 0 3 0 0 0 CACNA1G constrhet 1214 S P 1 CACNA1G:1214:P:S ENST00000359106;NM_018896.4 17 48677179 rs200787970 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1217Ala p.Pro1217Ala c.3649C>G missense_variant 22 9.89039642507126e-05 21 1 0 0 0 0 0 0 CACNA1G constrhet 1217 A P 1 CACNA1G:1217:P:A ENST00000359106;NM_018896.4 17 48677183 rs368770577 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1218Gln p.Pro1218Gln c.3653C>A missense_variant 5 2.24719101123596e-05 5 0 0 0 0 0 0 0 CACNA1G constrhet 1218 Q P 1 CACNA1G:1218:P:Q ENST00000359106;NM_018896.4 17 48677200 rs185805352 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1224Thr p.Ala1224Thr c.3670G>A missense_variant 7 3.18996709776793e-05 5 0 0 1 0 0 1 0 CACNA1G constrhet 1224 T A 1 CACNA1G:1224:A:T ENST00000359106;NM_018896.4 17 48677209 rs60039322 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1227Lys p.Glu1227Lys c.3679G>A missense_variant 4 1.83803256993714e-05 2 0 0 0 0 0 0 2 CACNA1G constrhet 1227 K E 1 CACNA1G:1227:E:K ENST00000359106;NM_018896.4 17 48677213 rs373540931 G T gnomAD Exomes PASS NA p.Gly1228Val p.Gly1228Val c.3683G>T missense_variant 2 1.02364622786365e-05 0 2 0 0 0 0 0 0 CACNA1G constrhet 1228 V G 1 CACNA1G:1228:G:V ENST00000359106;NM_018896.4 17 48677213 rs373540931 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1228Asp p.Gly1228Asp c.3683G>A missense_variant 15 6.92418479264375e-05 0 3 0 0 0 12 0 0 CACNA1G constrhet 1228 D G 1 CACNA1G:1228:G:D ENST00000359106;NM_018896.4 17 48678093 rs760570893 G C gnomAD Exomes PASS NA p.Gly1233Arg p.Gly1233Arg c.3697G>C missense_variant 15 7.28678856654295e-05 0 2 0 0 0 0 0 13 CACNA1G constrhet 1233 R G 1 CACNA1G:1233:G:R ENST00000359106;NM_018896.4 17 48678099 rs768623076 C T gnomAD Exomes PASS NA p.Arg1235Trp p.Arg1235Trp c.3703C>T missense_variant 5 2.42874074649776e-05 0 1 0 0 0 2 0 2 CACNA1G constrhet 1235 W R 1 CACNA1G:1235:R:W ENST00000359106;NM_018896.4 17 48678100 rs150972562 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1235Gln p.Arg1235Gln c.3704G>A missense_variant 330 0.00145332194163811 5 16 1 0 2 293 11 2 CACNA1G constrhet 1235 Q R 1 CACNA1G:1235:R:Q ENST00000359106;NM_018896.4 17 48678100 rs150972562 G C gnomAD Exomes PASS NA p.Arg1235Pro p.Arg1235Pro c.3704G>C missense_variant 2 9.71458547863763e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1235 P R 1 CACNA1G:1235:R:P ENST00000359106;NM_018896.4 17 48678105 rs765212113 C T gnomAD Exomes PASS NA p.Arg1237Cys p.Arg1237Cys c.3709C>T missense_variant 7 3.39957650989762e-05 0 3 0 0 1 0 1 2 CACNA1G constrhet 1237 C R 1 CACNA1G:1237:R:C ENST00000359106;NM_018896.4 17 48678108 rs566198497 G A gnomAD Exomes PASS NA p.Ala1238Thr p.Ala1238Thr c.3712G>A missense_variant 3 1.45681985936832e-05 0 0 0 0 0 1 0 2 CACNA1G constrhet 1238 T A 1 CACNA1G:1238:A:T ENST00000359106;NM_018896.4 17 48678109 rs751825784 C T gnomAD Exomes PASS NA p.Ala1238Val p.Ala1238Val c.3713C>T missense_variant 4 1.94244534444412e-05 0 3 0 0 0 1 0 0 CACNA1G constrhet 1238 V A 1 CACNA1G:1238:A:V ENST00000359106;NM_018896.4 17 48678124 rs201568823 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1243Gln p.Arg1243Gln c.3728G>A missense_variant 13 5.72298968981396e-05 0 0 0 8 0 4 1 0 CACNA1G constrhet 1243 Q R 1 CACNA1G:1243:R:Q ENST00000359106;NM_018896.4 17 48678136 rs745401338 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys1247Tyr p.Cys1247Tyr c.3740G>A missense_variant 2 8.80235198845131e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1247 Y C 1 CACNA1G:1247:C:Y ENST00000359106;NM_018896.4 17 48678144 rs372523276 G A gnomAD Exomes PASS NA p.Glu1250Lys p.Glu1250Lys c.3748G>A missense_variant 13 6.31098597019273e-05 1 0 0 1 0 2 0 9 CACNA1G constrhet 1250 K E 1 CACNA1G:1250:E:K ENST00000359106;NM_018896.4 17 48678412 rs200024646 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1264Ser p.Arg1264Ser c.3792G>T missense_variant 14 6.16321966595349e-05 0 1 0 2 1 8 0 2 CACNA1G constrhet 1264 S R 1 CACNA1G:1264:R:S ENST00000359106;NM_018896.4 17 48678412 rs200024646 G C gnomAD Exomes PASS NA p.Arg1264Ser p.Arg1264Ser c.3792G>C missense_variant 3 1.45689060694063e-05 0 0 0 0 0 1 0 2 CACNA1G constrhet 1264 S R 1 CACNA1G:1264:R:S ENST00000359106;NM_018896.4 17 48678432 rs780733290 G A gnomAD Exomes PASS NA p.Arg1271Gln p.Arg1271Gln c.3812G>A missense_variant 5 2.4268781610088e-05 0 1 0 0 0 2 0 2 CACNA1G constrhet 1271 Q R 1 CACNA1G:1271:R:Q ENST00000359106;NM_018896.4 17 48678461 rs770856275 G A gnomAD Exomes PASS NA p.Val1281Met p.Val1281Met c.3841G>A missense_variant segdup 7 3.39670616550693e-05 0 0 0 0 0 7 0 0 CACNA1G constrhet 1281 M V 1 CACNA1G:1281:V:M ENST00000359106;NM_018896.4 17 48678464 rs559693517 G A gnomAD Exomes PASS NA p.Val1282Ile p.Val1282Ile c.3844G>A missense_variant segdup 3 1.4558018556621e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 1282 I V 1 CACNA1G:1282:V:I ENST00000359106;NM_018896.4 17 48678500 rs761026354 G A gnomAD Exomes PASS NA p.Ala1294Thr p.Ala1294Thr c.3880G>A missense_variant segdup 2 9.7103405416428e-06 0 0 0 0 0 1 0 1 CACNA1G constrhet 1294 T A 1 CACNA1G:1294:A:T ENST00000359106;NM_018896.4 17 48678510 rs764399144 G A gnomAD Exomes PASS NA p.Arg1297His p.Arg1297His c.3890G>A missense_variant segdup 3 1.4569613613847e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 1297 H R 1 CACNA1G:1297:R:H ENST00000359106;NM_018896.4 17 48680229 rs766736425 C G gnomAD Exomes PASS NA p.Leu1322Val p.Leu1322Val c.3964C>G missense_variant 7 3.39802526189066e-05 1 0 0 0 6 0 0 0 CACNA1G constrhet 1322 V L 1 CACNA1G:1322:L:V ENST00000359106;NM_018896.4 17 48680245 rs749639932 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1327Ala p.Val1327Ala c.3980T>C missense_variant 4 1.76231638866126e-05 0 0 0 0 3 1 0 0 CACNA1G constrhet 1327 A V 1 CACNA1G:1327:V:A ENST00000359106;NM_018896.4 17 48680407 rs751505218 A G gnomAD Exomes PASS NA p.Gln1339Arg p.Gln1339Arg c.4016A>G missense_variant 5 2.4264070734619e-05 0 0 0 0 0 5 0 0 CACNA1G constrhet 1339 R Q 1 CACNA1G:1339:Q:R ENST00000359106;NM_018896.4 17 48680419 rs1295882768 G A gnomAD Exomes PASS NA p.Arg1343Gln p.Arg1343Gln c.4028G>A missense_variant 4 1.94007120061306e-05 0 1 0 3 0 0 0 0 CACNA1G constrhet 1343 Q R 1 CACNA1G:1343:R:Q ENST00000359106;NM_018896.4 17 48680433 rs777816053 G A gnomAD Exomes PASS NA p.Val1348Met p.Val1348Met c.4042G>A missense_variant 6 2.90883704694863e-05 0 0 0 4 0 1 0 1 CACNA1G constrhet 1348 M V 1 CACNA1G:1348:V:M ENST00000359106;NM_018896.4 17 48680463 rs776132057 G A gnomAD Exomes PASS NA p.Val1358Ile p.Val1358Ile c.4072G>A missense_variant 3 1.45583011433119e-05 0 0 0 0 0 2 0 1 CACNA1G constrhet 1358 I V 1 CACNA1G:1358:V:I ENST00000359106;NM_018896.4 17 48680484 rs371893576 A G gnomAD Exomes PASS NA p.Met1365Val p.Met1365Val c.4093A>G missense_variant 2 9.71581248481904e-06 1 0 0 0 0 1 0 0 CACNA1G constrhet 1365 V M 1 CACNA1G:1365:M:V ENST00000359106;NM_018896.4 17 48680499 rs754975616 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1370Ser p.Gly1370Ser c.4108G>A missense_variant 3 1.32520540683806e-05 2 0 0 0 0 0 0 1 CACNA1G constrhet 1370 S G 1 CACNA1G:1370:G:S ENST00000359106;NM_018896.4 17 48680500 rs1213008889 G A gnomAD Exomes PASS NA p.Gly1370Asp p.Gly1370Asp c.4109G>A missense_variant 2 9.75105555176348e-06 0 2 0 0 0 0 0 0 CACNA1G constrhet 1370 D G 1 CACNA1G:1370:G:D ENST00000359106;NM_018896.4 17 48681616 rs563141927 A G gnomAD Exomes PASS NA p.Ile1424Val p.Ile1424Val c.4270A>G missense_variant 2 9.70968055150986e-06 0 1 0 1 0 0 0 0 CACNA1G constrhet 1424 V I 1 CACNA1G:1424:I:V ENST00000359106;NM_018896.4 17 48683292 rs377703518 G A gnomAD Exomes PASS NA p.Glu1444Lys p.Glu1444Lys c.4330G>A missense_variant 3 1.4589452798257e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 1444 K E 1 CACNA1G:1444:E:K ENST00000359106;NM_018896.4 17 48683328 rs751896733 G A gnomAD Exomes PASS NA p.Ala1456Thr p.Ala1456Thr c.4366G>A missense_variant 12 5.82648721086057e-05 0 12 0 0 0 0 0 0 CACNA1G constrhet 1456 T A 1 CACNA1G:1456:A:T ENST00000359106;NM_018896.4 17 48683331 rs561339997 G A gnomAD Exomes PASS NA p.Glu1457Lys p.Glu1457Lys c.4369G>A missense_variant 2 9.7103405416428e-06 1 0 0 1 0 0 0 0 CACNA1G constrhet 1457 K E 1 CACNA1G:1457:E:K ENST00000359106;NM_018896.4 17 48683344 rs1433388806 G A gnomAD Exomes PASS NA p.Arg1461Gln p.Arg1461Gln c.4382G>A missense_variant 2 9.70920918491189e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1461 Q R 1 CACNA1G:1461:R:Q ENST00000359106;NM_018896.4 17 48684279 rs772369809 G A gnomAD Exomes PASS NA p.Val1481Ile p.Val1481Ile c.4441G>A missense_variant 2 9.70826658900053e-06 0 0 0 0 0 1 0 1 CACNA1G constrhet 1481 I V 1 CACNA1G:1481:V:I ENST00000359106;NM_018896.4 17 48684292 rs760957333 A G gnomAD Exomes PASS NA p.Lys1485Arg p.Lys1485Arg c.4454A>G missense_variant 2 9.70600510535868e-06 0 0 0 0 1 1 0 0 CACNA1G constrhet 1485 R K 1 CACNA1G:1485:K:R ENST00000359106;NM_018896.4 17 48684318 rs369596277 G A gnomAD Exomes PASS NA p.Asp1494Asn p.Asp1494Asn c.4480G>A missense_variant 3 1.45592902831297e-05 1 0 0 0 0 1 1 0 CACNA1G constrhet 1494 N D 1 CACNA1G:1494:D:N ENST00000359106;NM_018896.4 17 48685195 rs1476304151 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1507Thr p.Met1507Thr c.4520T>C missense_variant 2 8.79747336564939e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1507 T M 1 CACNA1G:1507:M:T ENST00000359106;NM_018896.4 17 48685333 rs376414769 G A gnomAD Exomes PASS NA p.Arg1553Gln p.Arg1553Gln c.4658G>A missense_variant 6 2.93048880553276e-05 1 0 0 0 0 2 0 3 CACNA1G constrhet 1553 Q R 1 CACNA1G:1553:R:Q ENST00000359106;NM_018896.4 17 48685336 rs755065448 G A gnomAD Exomes PASS NA p.Arg1554Gln p.Arg1554Gln c.4661G>A missense_variant 2 9.77545773580848e-06 0 0 0 0 0 1 0 1 CACNA1G constrhet 1554 Q R 1 CACNA1G:1554:R:Q ENST00000359106;NM_018896.4 17 48687257 rs368939625 G A gnomAD Exomes PASS NA p.Asp1574Asn p.Asp1574Asn c.4720G>A missense_variant 3 1.46875948573835e-05 0 0 0 0 0 1 0 2 CACNA1G constrhet 1574 N D 1 CACNA1G:1574:D:N ENST00000359106;NM_018896.4 17 48687257 rs368939625 G C gnomAD Exomes PASS NA p.Asp1574His p.Asp1574His c.4720G>C missense_variant 4 1.95834598098446e-05 0 0 0 0 0 4 0 0 CACNA1G constrhet 1574 H D 1 CACNA1G:1574:D:H ENST00000359106;NM_018896.4 17 48687272 rs775456459 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1579Ser p.Gly1579Ser c.4735G>A missense_variant 3 1.33161702694305e-05 0 0 1 0 0 2 0 0 CACNA1G constrhet 1579 S G 1 CACNA1G:1579:G:S ENST00000359106;NM_018896.4 17 48687287 rs771816379 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1584Ser p.Ala1584Ser c.4750G>T missense_variant 8 3.559510567297e-05 0 0 0 0 0 8 0 0 CACNA1G constrhet 1584 S A 1 CACNA1G:1584:A:S ENST00000359106;NM_018896.4 17 48687287 rs771816379 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1584Thr p.Ala1584Thr c.4750G>A missense_variant 10 4.44938820912125e-05 2 0 0 0 0 7 1 0 CACNA1G constrhet 1584 T A 1 CACNA1G:1584:A:T ENST00000359106;NM_018896.4 17 48692731 rs747035819 G A gnomAD Exomes PASS NA p.Cys1590Tyr p.Cys1590Tyr c.4769G>A missense_variant 5 2.46762476310802e-05 0 0 0 0 0 1 0 4 CACNA1G constrhet 1590 Y C 1 CACNA1G:1590:C:Y ENST00000359106;NM_018896.4 17 48692748 rs372802826 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1596Asn p.Asp1596Asn c.4786G>A missense_variant 12 5.30227379174436e-05 0 0 0 0 0 12 0 0 CACNA1G constrhet 1596 N D 1 CACNA1G:1596:D:N ENST00000359106;NM_018896.4 17 48692757 rs773460916 C T gnomAD Exomes PASS NA p.Arg1599Cys p.Arg1599Cys c.4795C>T missense_variant 4 1.94704049844237e-05 0 1 0 1 0 0 0 2 CACNA1G constrhet 1599 C R 1 CACNA1G:1599:R:C ENST00000359106;NM_018896.4 17 48692758 rs766821069 G A gnomAD Exomes PASS NA p.Arg1599His p.Arg1599His c.4796G>A missense_variant 2 9.73463388041976e-06 0 1 0 0 0 1 0 0 CACNA1G constrhet 1599 H R 1 CACNA1G:1599:R:H ENST00000359106;NM_018896.4 17 48692772 rs1177958111 G A gnomAD Exomes PASS NA p.Val1604Ile p.Val1604Ile c.4810G>A missense_variant 2 9.73605553446077e-06 0 1 0 0 0 1 0 0 CACNA1G constrhet 1604 I V 1 CACNA1G:1604:V:I ENST00000359106;NM_018896.4 17 48692787 rs200825775 A G gnomAD Exomes PASS NA p.Thr1609Ala p.Thr1609Ala c.4825A>G missense_variant 2 1.11134572854269e-05 0 0 0 0 0 0 2 0 CACNA1G constrhet 1609 A T 1 CACNA1G:1609:T:A ENST00000359106;NM_018896.4 17 48693655 rs752419003 A G gnomAD Exomes PASS NA p.Lys1644Arg p.Lys1644Arg c.4931A>G missense_variant 2 9.70845509354096e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1644 R K 1 CACNA1G:1644:K:R ENST00000359106;NM_018896.4 17 48693726 rs1369128414 C T gnomAD Exomes PASS NA p.Arg1668Cys p.Arg1668Cys c.5002C>T missense_variant 2 9.71449110638339e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 1668 C R 1 CACNA1G:1668:R:C ENST00000359106;NM_018896.4 17 48693729 rs772354020 C T gnomAD Exomes PASS NA p.Arg1669Trp p.Arg1669Trp c.5005C>T missense_variant 2 9.71637889991158e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1669 W R 1 CACNA1G:1669:R:W ENST00000359106;NM_018896.4 17 48693730 rs776010942 G A gnomAD Exomes PASS NA p.Arg1669Gln p.Arg1669Gln c.5006G>A missense_variant 2 9.7183618729227e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1669 Q R 1 CACNA1G:1669:R:Q ENST00000359106;NM_018896.4 17 48694849 rs771543254 C T gnomAD Exomes PASS NA p.Thr1691Met p.Thr1691Met c.5072C>T missense_variant 2 9.71430236737549e-06 0 0 0 0 0 1 0 1 CACNA1G constrhet 1691 M T 1 CACNA1G:1691:T:M ENST00000359106;NM_018896.4 17 48694863 rs763864054 G A gnomAD Exomes PASS NA p.Glu1696Lys p.Glu1696Lys c.5086G>A missense_variant 5 2.42779730805834e-05 0 1 2 0 0 1 1 0 CACNA1G constrhet 1696 K E 1 CACNA1G:1696:E:K ENST00000359106;NM_018896.4 17 48694871 rs369755516 C A gnomAD Exomes PASS NA p.Asn1698Lys p.Asn1698Lys c.5094C>A missense_variant 2 9.71043483327183e-06 0 2 0 0 0 0 0 0 CACNA1G constrhet 1698 K N 1 CACNA1G:1698:N:K ENST00000359106;NM_018896.4 17 48695409 rs1183039547 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1743Leu p.Val1743Leu c.5227G>T missense_variant 2 8.81002933739769e-06 0 0 0 0 1 1 0 0 CACNA1G constrhet 1743 L V 1 CACNA1G:1743:V:L ENST00000359106;NM_018896.4 17 48695433 rs367902939 A C gnomAD Exomes PASS NA p.Met1751Leu p.Met1751Leu c.5251A>C missense_variant 2 9.71071771914662e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1751 L M 1 CACNA1G:1751:M:L ENST00000359106;NM_018896.4 17 48695583 rs762006981 A G gnomAD Exomes PASS NA p.Glu1769Gly p.Glu1769Gly c.5306A>G missense_variant 2 9.70939772605905e-06 0 0 0 0 2 0 0 0 CACNA1G constrhet 1769 G E 1 CACNA1G:1769:E:G ENST00000359106;NM_018896.4 17 48695591 rs1275453093 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1772Lys p.Glu1772Lys c.5314G>A missense_variant 2 8.80405690942386e-06 0 0 0 0 0 1 0 1 CACNA1G constrhet 1772 K E 1 CACNA1G:1772:E:K ENST00000359106;NM_018896.4 17 48695593 rs763525253 G C gnomAD Exomes PASS NA p.Glu1772Asp p.Glu1772Asp c.5316G>C missense_variant 4 1.94154022385959e-05 0 4 0 0 0 0 0 0 CACNA1G constrhet 1772 D E 1 CACNA1G:1772:E:D ENST00000359106;NM_018896.4 17 48695619 rs753614584 G A gnomAD Exomes PASS NA p.Arg1781His p.Arg1781His c.5342G>A missense_variant 5 2.42654838052161e-05 1 0 0 0 1 0 0 3 CACNA1G constrhet 1781 H R 1 CACNA1G:1781:R:H ENST00000359106;NM_018896.4 17 48696098 rs202107134 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1837Met p.Thr1837Met c.5510C>T missense_variant 15 6.59891777748449e-05 1 0 0 0 0 13 0 1 CACNA1G constrhet 1837 M T 1 CACNA1G:1837:T:M ENST00000359106;NM_018896.4 17 48696156 rs761270153 G C gnomAD Exomes PASS NA p.Glu1856Asp p.Glu1856Asp c.5568G>C missense_variant 3 1.45648036664466e-05 0 2 0 0 0 0 1 0 CACNA1G constrhet 1856 D E 1 CACNA1G:1856:E:D ENST00000359106;NM_018896.4 17 48696157 rs750103864 A T gnomAD Exomes PASS NA p.Ser1857Cys p.Ser1857Cys c.5569A>T missense_variant 3 1.45646622454825e-05 0 2 0 0 0 0 1 0 CACNA1G constrhet 1857 C S 1 CACNA1G:1857:S:C ENST00000359106;NM_018896.4 17 48696202 rs756194183 G A gnomAD Exomes PASS NA p.Glu1872Lys p.Glu1872Lys c.5614G>A missense_variant 3 1.45983980691185e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 1872 K E 1 CACNA1G:1872:E:K ENST00000359106;NM_018896.4 17 48696202 rs756194183 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1872Gln p.Glu1872Gln c.5614G>C missense_variant 5 2.20520781878484e-05 0 0 0 5 0 0 0 0 CACNA1G constrhet 1872 Q E 1 CACNA1G:1872:E:Q ENST00000359106;NM_018896.4 17 48696214 rs749478275 A G gnomAD Exomes PASS NA p.Lys1876Glu p.Lys1876Glu c.5626A>G missense_variant 2 9.76257419556389e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 1876 E K 1 CACNA1G:1876:K:E ENST00000359106;NM_018896.4 17 48696225 rs774882008 C A gnomAD Exomes PASS NA p.Ser1879Arg p.Ser1879Arg c.5637C>A missense_variant 7 3.43457141455277e-05 0 0 0 0 0 0 0 7 CACNA1G constrhet 1879 R S 1 CACNA1G:1879:S:R ENST00000359106;NM_018896.4 17 48696226 rs772534427 C A gnomAD Exomes PASS NA p.Pro1880Thr p.Pro1880Thr c.5638C>A missense_variant 3 1.4721469791544e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 1880 T P 1 CACNA1G:1880:P:T ENST00000359106;NM_018896.4 17 48696252 rs762525130 C A gnomAD Exomes PASS NA p.Ser1888Arg p.Ser1888Arg c.5664C>A missense_variant 2 9.96601588582932e-06 0 0 0 2 0 0 0 0 CACNA1G constrhet 1888 R S 1 CACNA1G:1888:S:R ENST00000359106;NM_018896.4 17 48696274 rs570613810 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1896Lys p.Glu1896Lys c.5686G>A missense_variant 15 6.87001923605386e-05 0 1 0 0 0 2 0 12 CACNA1G constrhet 1896 K E 1 CACNA1G:1896:E:K ENST00000359106;NM_018896.4 17 48696280 rs753909559 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1898Ser p.Pro1898Ser c.5692C>T missense_variant 3 1.40575798470535e-05 3 0 0 0 0 0 0 0 CACNA1G constrhet 1898 S P 1 CACNA1G:1898:P:S ENST00000359106;NM_018896.4 17 48696283 rs762521668 G A gnomAD Exomes PASS NA p.Asp1899Asn p.Asp1899Asn c.5695G>A missense_variant 2 1.0387020379334e-05 0 2 0 0 0 0 0 0 CACNA1G constrhet 1899 N D 1 CACNA1G:1899:D:N ENST00000359106;NM_018896.4 17 48696292 rs772624455 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1902Asn p.Asp1902Asn c.5704G>A missense_variant 27 0.000125595415302173 1 2 0 17 0 7 0 0 CACNA1G constrhet 1902 N D 1 CACNA1G:1902:D:N ENST00000359106;NM_018896.4 17 48696296 rs375334768 G A gnomAD Exomes PASS NA p.Ser1903Asn p.Ser1903Asn c.5708G>A missense_variant 3 1.55295579252511e-05 0 0 0 2 0 0 1 0 CACNA1G constrhet 1903 N S 1 CACNA1G:1903:S:N ENST00000359106;NM_018896.4 17 48696308 rs762409956 G A gnomAD Exomes PASS NA p.Gly1907Glu p.Gly1907Glu c.5720G>A missense_variant 3 1.58585837227497e-05 0 1 0 0 0 2 0 0 CACNA1G constrhet 1907 E G 1 CACNA1G:1907:G:E ENST00000359106;NM_018896.4 17 48696322 rs373800859 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1912Thr p.Ala1912Thr c.5734G>A missense_variant 2 1.06773725121722e-05 2 0 0 0 0 0 0 0 CACNA1G constrhet 1912 T A 1 CACNA1G:1912:A:T ENST00000359106;NM_018896.4 17 48696323 rs1203747142 C T gnomAD Exomes PASS NA p.Ala1912Val p.Ala1912Val c.5735C>T missense_variant 2 1.21000919606989e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 1912 V A 1 CACNA1G:1912:A:V ENST00000359106;NM_018896.4 17 48696326 rs1459909857 C A gnomAD Exomes PASS NA p.Ala1913Asp p.Ala1913Asp c.5738C>A missense_variant 2 1.21642662514597e-05 0 1 0 0 0 1 0 0 CACNA1G constrhet 1913 D A 1 CACNA1G:1913:A:D ENST00000359106;NM_018896.4 17 48696332 rs375547019 C T gnomAD Exomes PASS NA p.Ala1915Val p.Ala1915Val c.5744C>T missense_variant 6 3.85089340727049e-05 0 0 0 0 1 2 2 1 CACNA1G constrhet 1915 V A 1 CACNA1G:1915:A:V ENST00000359106;NM_018896.4 17 48696332 rs375547019 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1915Glu p.Ala1915Glu c.5744C>A missense_variant 2 1.12975201943173e-05 1 0 0 0 0 1 0 0 CACNA1G constrhet 1915 E A 1 CACNA1G:1915:A:E ENST00000359106;NM_018896.4 17 48696335 rs572558353 G A gnomAD Exomes PASS NA p.Arg1916Lys p.Arg1916Lys c.5747G>A missense_variant 2 1.30039011703511e-05 2 0 0 0 0 0 0 0 CACNA1G constrhet 1916 K R 1 CACNA1G:1916:R:K ENST00000359106;NM_018896.4 17 48696348 rs1178647429 C G gnomAD Exomes PASS NA p.His1920Gln p.His1920Gln c.5760C>G missense_variant 2 1.38886959903335e-05 0 2 0 0 0 0 0 0 CACNA1G constrhet 1920 Q H 1 CACNA1G:1920:H:Q ENST00000359106;NM_018896.4 17 48696363 rs1364546644 C G gnomAD Exomes PASS NA p.His1925Gln p.His1925Gln c.5775C>G missense_variant 3 2.2277007158345e-05 3 0 0 0 0 0 0 0 CACNA1G constrhet 1925 Q H 1 CACNA1G:1925:H:Q ENST00000359106;NM_018896.4 17 48696364 rs541541250 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1926Ser p.Pro1926Ser c.5776C>T missense_variant 20 0.000128817838694302 18 2 0 0 0 0 0 0 CACNA1G constrhet 1926 S P 1 CACNA1G:1926:P:S ENST00000359106;NM_018896.4 17 48696368 rs200630160 C T gnomAD Exomes PASS NA p.Thr1927Met p.Thr1927Met c.5780C>T missense_variant 13 0.00010035510267099 3 0 0 0 0 5 2 3 CACNA1G constrhet 1927 M T 1 CACNA1G:1927:T:M ENST00000359106;NM_018896.4 17 48696368 rs200630160 C A gnomAD Exomes PASS NA p.Thr1927Lys p.Thr1927Lys c.5780C>A missense_variant 3 2.31588698471515e-05 3 0 0 0 0 0 0 0 CACNA1G constrhet 1927 K T 1 CACNA1G:1927:T:K ENST00000359106;NM_018896.4 17 48697098 rs778419627 G A gnomAD Exomes PASS NA p.Glu1946Lys p.Glu1946Lys c.5836G>A missense_variant 2 9.97028854015035e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 1946 K E 1 CACNA1G:1946:E:K ENST00000359106;NM_018896.4 17 48697101 rs771455699 C G gnomAD Exomes PASS NA p.Leu1947Val p.Leu1947Val c.5839C>G missense_variant 2 9.98143453177091e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 1947 V L 1 CACNA1G:1947:L:V ENST00000359106;NM_018896.4 17 48697128 rs768563197 C A gnomAD Exomes PASS NA p.Pro1956Thr p.Pro1956Thr c.5866C>A missense_variant 3 1.52819520146707e-05 3 0 0 0 0 0 0 0 CACNA1G constrhet 1956 T P 1 CACNA1G:1956:P:T ENST00000359106;NM_018896.4 17 48697132 rs1234707868 G T gnomAD Exomes PASS NA p.Gly1957Val p.Gly1957Val c.5870G>T missense_variant 2 1.01971101389866e-05 1 0 0 0 0 1 0 0 CACNA1G constrhet 1957 V G 1 CACNA1G:1957:G:V ENST00000359106;NM_018896.4 17 48697135 rs1479671700 G A gnomAD Exomes PASS NA p.Gly1958Asp p.Gly1958Asp c.5873G>A missense_variant 2 1.02243216162608e-05 0 0 0 0 0 1 1 0 CACNA1G constrhet 1958 D G 1 CACNA1G:1958:G:D ENST00000359106;NM_018896.4 17 48697159 rs763129139 C T gnomAD Exomes PASS NA p.Ala1966Val p.Ala1966Val c.5897C>T missense_variant 2 1.02503126345354e-05 0 1 0 0 0 1 0 0 CACNA1G constrhet 1966 V A 1 CACNA1G:1966:A:V ENST00000359106;NM_018896.4 17 48697164 rs751865150 A T gnomAD Exomes PASS NA p.Ser1968Cys p.Ser1968Cys c.5902A>T missense_variant 2 1.02088735528922e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 1968 C S 1 CACNA1G:1968:S:C ENST00000359106;NM_018896.4 17 48697164 rs751865150 A G gnomAD Exomes PASS NA p.Ser1968Gly p.Ser1968Gly c.5902A>G missense_variant 2 1.02088735528922e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 1968 G S 1 CACNA1G:1968:S:G ENST00000359106;NM_018896.4 17 48697171 rs1275297681 G A gnomAD Exomes PASS NA p.Gly1970Glu p.Gly1970Glu c.5909G>A missense_variant 2 1.02441173156315e-05 0 0 0 0 1 1 0 0 CACNA1G constrhet 1970 E G 1 CACNA1G:1970:G:E ENST00000359106;NM_018896.4 17 48697179 rs778293092 G A gnomAD Exomes PASS NA p.Asp1973Asn p.Asp1973Asn c.5917G>A missense_variant 2 1.03281245158692e-05 0 0 0 2 0 0 0 0 CACNA1G constrhet 1973 N D 1 CACNA1G:1973:D:N ENST00000359106;NM_018896.4 17 48697185 rs749773509 C G gnomAD Exomes PASS NA p.Gln1975Glu p.Gln1975Glu c.5923C>G missense_variant 27 0.000139669139327726 0 0 0 0 0 0 0 27 CACNA1G constrhet 1975 E Q 1 CACNA1G:1975:Q:E ENST00000359106;NM_018896.4 17 48699037 rs754688620 T C gnomAD Exomes PASS NA p.Met1981Thr p.Met1981Thr c.5942T>C missense_variant 2 9.71213239578882e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 1981 T M 1 CACNA1G:1981:M:T ENST00000359106;NM_018896.4 17 48699055 rs201565895 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1987Lys p.Thr1987Lys c.5960C>A missense_variant 30 0.000132041091187578 0 2 16 0 0 10 1 1 CACNA1G constrhet 1987 K T 1 CACNA1G:1987:T:K ENST00000359106;NM_018896.4 17 48699065 rs1225877838 T G gnomAD Exomes PASS NA p.Ile1990Met p.Ile1990Met c.5970T>G missense_variant 3 1.45639551818553e-05 0 0 0 0 3 0 0 0 CACNA1G constrhet 1990 M I 1 CACNA1G:1990:I:M ENST00000359106;NM_018896.4 17 48699070 rs749251748 C T gnomAD Exomes PASS NA p.Ser1992Phe p.Ser1992Phe c.5975C>T missense_variant 2 9.70920918491189e-06 0 0 0 1 0 0 0 1 CACNA1G constrhet 1992 F S 1 CACNA1G:1992:S:F ENST00000359106;NM_018896.4 17 48699076 rs202217909 C T gnomAD Exomes PASS NA p.Pro1994Leu p.Pro1994Leu c.5981C>T missense_variant 7 3.39799227199472e-05 5 1 0 0 0 0 0 1 CACNA1G constrhet 1994 L P 1 CACNA1G:1994:P:L ENST00000359106;NM_018896.4 17 48699085 rs772117612 C A gnomAD Exomes PASS NA p.Ser1997Tyr p.Ser1997Tyr c.5990C>A missense_variant 2 9.70741840914827e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 1997 Y S 1 CACNA1G:1997:S:Y ENST00000359106;NM_018896.4 17 48699147 rs373275282 G A gnomAD Exomes PASS NA p.Glu2018Lys p.Glu2018Lys c.6052G>A missense_variant 2 9.71647330884782e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 2018 K E 1 CACNA1G:2018:E:K ENST00000359106;NM_018896.4 17 48701284 rs375919039 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2026Met p.Thr2026Met c.6077C>T missense_variant 78 0.000345184673800483 6 1 0 56 0 0 3 12 CACNA1G constrhet 2026 M T 1 CACNA1G:2026:T:M ENST00000359106;NM_018896.4 17 48701288 rs778764267 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2027Asp p.Glu2027Asp c.6081G>C missense_variant 5 2.21166520696763e-05 5 0 0 0 0 0 0 0 CACNA1G constrhet 2027 D E 1 CACNA1G:2027:E:D ENST00000359106;NM_018896.4 17 48701299 rs745814197 C T gnomAD Exomes PASS NA p.Pro2031Leu p.Pro2031Leu c.6092C>T missense_variant 3 1.46247294425053e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 2031 L P 1 CACNA1G:2031:P:L ENST00000359106;NM_018896.4 17 48701316 rs780132660 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2037Trp p.Arg2037Trp c.6109C>T missense_variant 4 1.76587967295908e-05 0 0 0 0 0 3 0 1 CACNA1G constrhet 2037 W R 1 CACNA1G:2037:R:W ENST00000359106;NM_018896.4 17 48701317 rs747053946 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2037Gln p.Arg2037Gln c.6110G>A missense_variant 6 2.64881950943863e-05 2 3 0 0 0 1 0 0 CACNA1G constrhet 2037 Q R 1 CACNA1G:2037:R:Q ENST00000359106;NM_018896.4 17 48701326 rs776763629 G T gnomAD Exomes PASS NA p.Gly2040Val p.Gly2040Val c.6119G>T missense_variant 2 9.73823621065753e-06 0 1 0 0 0 1 0 0 CACNA1G constrhet 2040 V G 1 CACNA1G:2040:G:V ENST00000359106;NM_018896.4 17 48701353 rs775169966 A G gnomAD Exomes PASS NA p.Asn2049Ser p.Asn2049Ser c.6146A>G missense_variant 3 1.46033724054675e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 2049 S N 1 CACNA1G:2049:N:S ENST00000359106;NM_018896.4 17 48701364 rs760313217 A C gnomAD Exomes PASS NA p.Met2053Leu p.Met2053Leu c.6157A>C missense_variant 5 2.43498587708191e-05 0 0 0 0 0 0 0 5 CACNA1G constrhet 2053 L M 1 CACNA1G:2053:M:L ENST00000359106;NM_018896.4 17 48701370 rs376936316 C T gnomAD Exomes PASS NA p.Arg2055Trp p.Arg2055Trp c.6163C>T missense_variant 7 3.40931229300604e-05 1 1 0 3 0 2 0 0 CACNA1G constrhet 2055 W R 1 CACNA1G:2055:R:W ENST00000359106;NM_018896.4 17 48701371 rs202195188 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2055Gln p.Arg2055Gln c.6164G>A missense_variant 6 2.64874934884912e-05 1 2 0 0 0 2 1 0 CACNA1G constrhet 2055 Q R 1 CACNA1G:2055:R:Q ENST00000359106;NM_018896.4 17 48701388 rs750174107 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2061Lys p.Glu2061Lys c.6181G>A missense_variant 24 0.000106175898071138 2 22 0 0 0 0 0 0 CACNA1G constrhet 2061 K E 1 CACNA1G:2061:E:K ENST00000359106;NM_018896.4 17 48701395 rs758365116 C G gnomAD Exomes PASS NA p.Pro2063Arg p.Pro2063Arg c.6188C>G missense_variant 2 9.77641342497091e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2063 R P 1 CACNA1G:2063:P:R ENST00000359106;NM_018896.4 17 48701407 rs548433941 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2067Met p.Arg2067Met c.6200G>T missense_variant 2 8.86430521575719e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2067 M R 1 CACNA1G:2067:R:M ENST00000359106;NM_018896.4 17 48701431 rs781323985 A G gnomAD Exomes PASS NA p.Gln2075Arg p.Gln2075Arg c.6224A>G missense_variant 2 9.80075073750649e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 2075 R Q 1 CACNA1G:2075:Q:R ENST00000359106;NM_018896.4 17 48701726 rs760269730 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2079Ile p.Val2079Ile c.6235G>A missense_variant 5 2.71170262384346e-05 0 1 0 0 0 4 0 0 CACNA1G constrhet 2079 I V 1 CACNA1G:2079:V:I ENST00000359106;NM_018896.4 17 48701757 rs778179845 C T gnomAD Exomes PASS NA p.Thr2089Ile p.Thr2089Ile c.6266C>T missense_variant 2 1.07788820143575e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 2089 I T 1 CACNA1G:2089:T:I ENST00000359106;NM_018896.4 17 48701773 rs771491405 G C gnomAD Exomes PASS NA p.Gln2094His p.Gln2094His c.6282G>C missense_variant 2 1.07381397246741e-05 0 0 0 2 0 0 0 0 CACNA1G constrhet 2094 H Q 1 CACNA1G:2094:Q:H ENST00000359106;NM_018896.4 17 48701775 rs779353394 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu2095Pro p.Leu2095Pro c.6284T>C missense_variant 7 3.37629263775274e-05 5 1 0 0 0 1 0 0 CACNA1G constrhet 2095 P L 1 CACNA1G:2095:L:P ENST00000359106;NM_018896.4 17 48701789 rs201079826 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2100Ser p.Pro2100Ser c.6298C>T missense_variant 123 0.000593726769836749 21 21 1 0 1 76 2 1 CACNA1G constrhet 2100 S P 1 CACNA1G:2100:P:S ENST00000359106;NM_018896.4 17 48701799 rs901158413 T C gnomAD Exomes PASS NA p.Leu2103Pro p.Leu2103Pro c.6308T>C missense_variant 2 1.0741830837648e-05 0 1 0 0 0 1 0 0 CACNA1G constrhet 2103 P L 1 CACNA1G:2103:L:P ENST00000359106;NM_018896.4 17 48701813 rs8066269 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2108Ser p.Ala2108Ser c.6322G>T missense_variant 1740 0.0084232947669071 1490 189 0 0 0 34 17 10 CACNA1G constrhet 2108 S A 1 CACNA1G:2108:A:S ENST00000359106;NM_018896.4 17 48701813 rs8066269 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2108Thr p.Ala2108Thr c.6322G>A missense_variant 8 3.87277920317568e-05 1 0 0 6 0 0 1 0 CACNA1G constrhet 2108 T A 1 CACNA1G:2108:A:T ENST00000359106;NM_018896.4 17 48701816 rs766162816 C G gnomAD Exomes PASS NA p.Pro2109Ala p.Pro2109Ala c.6325C>G missense_variant 3 1.608389358896e-05 0 0 0 3 0 0 0 0 CACNA1G constrhet 2109 A P 1 CACNA1G:2109:P:A ENST00000359106;NM_018896.4 17 48701856 rs764266632 G A gnomAD Exomes PASS NA p.Arg2122His p.Arg2122His c.6365G>A missense_variant 3 1.63927260010491e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 2122 H R 1 CACNA1G:2122:R:H ENST00000359106;NM_018896.4 17 48701868 rs746207783 C T gnomAD Exomes PASS NA p.Ala2126Val p.Ala2126Val c.6377C>T missense_variant 14 7.75829583490346e-05 0 13 0 0 0 0 1 0 CACNA1G constrhet 2126 V A 1 CACNA1G:2126:A:V ENST00000359106;NM_018896.4 17 48703405 rs1401077814 G A gnomAD Exomes PASS NA p.Val2143Ile p.Val2143Ile c.6427G>A missense_variant 2 9.83206827388209e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2143 I V 1 CACNA1G:2143:V:I ENST00000359106;NM_018896.4 17 48703412 rs753920946 G C gnomAD Exomes PASS NA p.Gly2145Ala p.Gly2145Ala c.6434G>C missense_variant 4 1.96448216250196e-05 0 0 0 3 0 0 1 0 CACNA1G constrhet 2145 A G 1 CACNA1G:2145:G:A ENST00000359106;NM_018896.4 17 48703423 rs757588716 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2149Trp p.Arg2149Trp c.6445C>T missense_variant 7 3.11119407628648e-05 0 0 0 0 0 7 0 0 CACNA1G constrhet 2149 W R 1 CACNA1G:2149:R:W ENST00000359106;NM_018896.4 17 48703424 rs765601525 G A gnomAD Exomes PASS NA p.Arg2149Gln p.Arg2149Gln c.6446G>A missense_variant 5 2.45227865732839e-05 0 0 0 0 0 5 0 0 CACNA1G constrhet 2149 Q R 1 CACNA1G:2149:R:Q ENST00000359106;NM_018896.4 17 48703460 rs201791887 C A gnomAD Exomes PASS NA p.Pro2161Gln p.Pro2161Gln c.6482C>A missense_variant 3 1.46844315656541e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 2161 Q P 1 CACNA1G:2161:P:Q ENST00000359106;NM_018896.4 17 48703460 rs201791887 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2161Leu p.Pro2161Leu c.6482C>T missense_variant 10 4.43451113949198e-05 0 0 0 0 0 8 1 1 CACNA1G constrhet 2161 L P 1 CACNA1G:2161:P:L ENST00000359106;NM_018896.4 17 48703471 rs771907755 C T gnomAD Exomes PASS NA p.Arg2165Trp p.Arg2165Trp c.6493C>T missense_variant 2 9.78454433377038e-06 0 0 0 1 0 1 0 0 CACNA1G constrhet 2165 W R 1 CACNA1G:2165:R:W ENST00000359106;NM_018896.4 17 48703477 rs974117090 T C gnomAD Exomes PASS NA p.Tyr2167His p.Tyr2167His c.6499T>C missense_variant 3 1.4660320376868e-05 0 1 0 1 0 1 0 0 CACNA1G constrhet 2167 H Y 1 CACNA1G:2167:Y:H ENST00000359106;NM_018896.4 17 48703478 rs775089978 A G gnomAD Exomes PASS NA p.Tyr2167Cys p.Tyr2167Cys c.6500A>G missense_variant 2 9.77450223347376e-06 0 0 0 1 0 1 0 0 CACNA1G constrhet 2167 C Y 1 CACNA1G:2167:Y:C ENST00000359106;NM_018896.4 17 48703489 rs764086597 G A gnomAD Exomes PASS NA p.Gly2171Ser p.Gly2171Ser c.6511G>A missense_variant 2 9.77306933015383e-06 0 1 0 0 0 1 0 0 CACNA1G constrhet 2171 S G 1 CACNA1G:2171:G:S ENST00000359106;NM_018896.4 17 48703513 rs368092640 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln2179Lys p.Gln2179Lys c.6535C>A missense_variant 3 1.32745712313492e-05 2 1 0 0 0 0 0 0 CACNA1G constrhet 2179 K Q 1 CACNA1G:2179:Q:K ENST00000359106;NM_018896.4 17 48703518 rs765221852 C G gnomAD Exomes PASS NA p.His2180Gln p.His2180Gln c.6540C>G missense_variant 3 1.46475792434037e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 2180 Q H 1 CACNA1G:2180:H:Q ENST00000359106;NM_018896.4 17 48703522 rs750721334 C G gnomAD Exomes PASS NA p.Arg2182Gly p.Arg2182Gly c.6544C>G missense_variant 11 5.36931097096667e-05 0 0 0 0 0 0 0 11 CACNA1G constrhet 2182 G R 1 CACNA1G:2182:R:G ENST00000359106;NM_018896.4 17 48703558 rs756817487 C T gnomAD Exomes PASS NA p.Pro2194Ser p.Pro2194Ser c.6580C>T missense_variant 5 2.43455905266438e-05 0 0 0 0 5 0 0 0 CACNA1G constrhet 2194 S P 1 CACNA1G:2194:P:S ENST00000359106;NM_018896.4 17 48703559 rs778221667 C T gnomAD Exomes PASS NA p.Pro2194Leu p.Pro2194Leu c.6581C>T missense_variant 7 3.40801760484523e-05 0 0 0 0 0 0 0 7 CACNA1G constrhet 2194 L P 1 CACNA1G:2194:P:L ENST00000359106;NM_018896.4 17 48703562 rs1178794869 C T gnomAD Exomes PASS NA p.Ala2195Val p.Ala2195Val c.6584C>T missense_variant 3 1.46037989348963e-05 1 0 0 0 0 2 0 0 CACNA1G constrhet 2195 V A 1 CACNA1G:2195:A:V ENST00000359106;NM_018896.4 17 48703564 rs745549504 C A gnomAD Exomes PASS NA p.Pro2196Thr p.Pro2196Thr c.6586C>A missense_variant 4 1.94704049844237e-05 0 0 0 0 0 0 0 4 CACNA1G constrhet 2196 T P 1 CACNA1G:2196:P:T ENST00000359106;NM_018896.4 17 48703571 rs374956635 C T gnomAD Exomes PASS NA p.Pro2198Leu p.Pro2198Leu c.6593C>T missense_variant 2 9.73605553446077e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2198 L P 1 CACNA1G:2198:P:L ENST00000359106;NM_018896.4 17 48703580 rs1295847030 A G gnomAD Exomes PASS NA p.Glu2201Gly p.Glu2201Gly c.6602A>G missense_variant 2 9.73529726730206e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2201 G E 1 CACNA1G:2201:E:G ENST00000359106;NM_018896.4 17 48703586 rs959464173 A C gnomAD Genomes NA PASS p.Asn2203Thr p.Asn2203Thr c.6608A>C missense_variant 2 9.43218260705527e-05 2 0 0 0 0 0 0 0 CACNA1G constrhet 2203 T N 1 CACNA1G:2203:N:T ENST00000359106;NM_018896.4 17 48703587 rs552001827 C A gnomAD Exomes PASS NA p.Asn2203Lys p.Asn2203Lys c.6609C>A missense_variant 4 1.94679411678818e-05 0 0 0 0 0 4 0 0 CACNA1G constrhet 2203 K N 1 CACNA1G:2203:N:K ENST00000359106;NM_018896.4 17 48703587 rs552001827 C G gnomAD Exomes PASS NA p.Asn2203Lys p.Asn2203Lys c.6609C>G missense_variant 3 1.46009558759113e-05 0 3 0 0 0 0 0 0 CACNA1G constrhet 2203 K N 1 CACNA1G:2203:N:K ENST00000359106;NM_018896.4 17 48703601 rs769918898 C T gnomAD Exomes PASS NA p.Pro2208Leu p.Pro2208Leu c.6623C>T missense_variant 3 1.45947050410111e-05 0 0 0 0 1 2 0 0 CACNA1G constrhet 2208 L P 1 CACNA1G:2208:P:L ENST00000359106;NM_018896.4 17 48703610 rs763256204 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2211Ile p.Thr2211Ile c.6632C>T missense_variant 4 1.76349736798018e-05 0 0 0 4 0 0 0 0 CACNA1G constrhet 2211 I T 1 CACNA1G:2211:T:I ENST00000359106;NM_018896.4 17 48703634 rs1433017716 C T gnomAD Exomes PASS NA p.Thr2219Met p.Thr2219Met c.6656C>T missense_variant 2 9.73643471233704e-06 0 0 0 2 0 0 0 0 CACNA1G constrhet 2219 M T 1 CACNA1G:2219:T:M ENST00000359106;NM_018896.4 17 48703688 rs200141555 C T gnomAD Exomes PASS NA p.Pro2237Leu p.Pro2237Leu c.6710C>T missense_variant 2 9.76629261765941e-06 0 0 0 0 0 0 0 2 CACNA1G constrhet 2237 L P 1 CACNA1G:2237:P:L ENST00000359106;NM_018896.4 17 48703688 rs200141555 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2237His p.Pro2237His c.6710C>A missense_variant 106 0.000468997495730353 1 20 3 0 2 60 5 15 CACNA1G constrhet 2237 H P 1 CACNA1G:2237:P:H ENST00000359106;NM_018896.4 17 48703699 rs372274867 C T gnomAD Exomes PASS NA p.Arg2241Trp p.Arg2241Trp c.6721C>T missense_variant 16 7.82036618864678e-05 2 0 0 0 0 0 1 13 CACNA1G constrhet 2241 W R 1 CACNA1G:2241:R:W ENST00000359106;NM_018896.4 17 48703700 rs1264243708 G A gnomAD Exomes PASS NA p.Arg2241Gln p.Arg2241Gln c.6722G>A missense_variant 3 1.46727966350386e-05 1 2 0 0 0 0 0 0 CACNA1G constrhet 2241 Q R 1 CACNA1G:2241:R:Q ENST00000359106;NM_018896.4 17 48703715 rs1199767405 G T gnomAD Exomes PASS NA p.Cys2246Phe p.Cys2246Phe c.6737G>T missense_variant 2 9.79623824451411e-06 0 0 0 0 0 0 1 1 CACNA1G constrhet 2246 F C 1 CACNA1G:2246:C:F ENST00000359106;NM_018896.4 17 48703724 rs759750004 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2249Ala p.Val2249Ala c.6746T>C missense_variant 2 8.88699299704952e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2249 A V 1 CACNA1G:2249:V:A ENST00000359106;NM_018896.4 17 48703727 rs767883229 A C gnomAD Exomes PASS NA p.Glu2250Ala p.Glu2250Ala c.6749A>C missense_variant 5 2.45413226791271e-05 0 0 0 0 0 0 0 5 CACNA1G constrhet 2250 A E 1 CACNA1G:2250:E:A ENST00000359106;NM_018896.4 17 48703728 rs775784254 G C gnomAD Exomes PASS NA p.Glu2250Asp p.Glu2250Asp c.6750G>C missense_variant 3 1.47255163747742e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 2250 D E 1 CACNA1G:2250:E:D ENST00000359106;NM_018896.4 17 48703745 rs59050469 G A gnomAD Exomes PASS NA p.Arg2256His p.Arg2256His c.6767G>A missense_variant 4 1.9727951548151e-05 0 3 0 0 0 1 0 0 CACNA1G constrhet 2256 H R 1 CACNA1G:2256:R:H ENST00000359106;NM_018896.4 17 48703789 rs777619724 G A gnomAD Exomes PASS NA p.Ala2271Thr p.Ala2271Thr c.6811G>A missense_variant 2 1.02650434211337e-05 0 0 0 0 0 1 0 1 CACNA1G constrhet 2271 T A 1 CACNA1G:2271:A:T ENST00000359106;NM_018896.4 17 48703792 rs376198823 G A gnomAD Exomes PASS NA p.Val2272Ile p.Val2272Ile c.6814G>A missense_variant 2 1.02537810817739e-05 0 0 0 0 0 1 0 1 CACNA1G constrhet 2272 I V 1 CACNA1G:2272:V:I ENST00000359106;NM_018896.4 17 48703798 rs746112128 T C gnomAD Exomes PASS NA p.Cys2274Arg p.Cys2274Arg c.6820T>C missense_variant 3 1.54478326690765e-05 0 3 0 0 0 0 0 0 CACNA1G constrhet 2274 R C 1 CACNA1G:2274:C:R ENST00000359106;NM_018896.4 17 48703802 rs370540873 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu2275Pro p.Leu2275Pro c.6824T>C missense_variant 76 0.00035567536199328 0 14 1 0 2 50 3 6 CACNA1G constrhet 2275 P L 1 CACNA1G:2275:L:P ENST00000359106;NM_018896.4 17 48703810 rs760997918 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2278Cys p.Gly2278Cys c.6832G>T missense_variant 4 1.90106840044105e-05 0 0 0 3 0 0 0 1 CACNA1G constrhet 2278 C G 1 CACNA1G:2278:G:C ENST00000359106;NM_018896.4 17 48703810 rs760997918 G A gnomAD Exomes PASS NA p.Gly2278Ser p.Gly2278Ser c.6832G>A missense_variant 2 1.05716067785143e-05 0 0 0 1 0 1 0 0 CACNA1G constrhet 2278 S G 1 CACNA1G:2278:G:S ENST00000359106;NM_018896.4 17 48703847 rs777076554 T C gnomAD Exomes PASS NA p.Leu2290Pro p.Leu2290Pro c.6869T>C missense_variant 2 1.15845323324297e-05 0 0 0 0 0 1 0 1 CACNA1G constrhet 2290 P L 1 CACNA1G:2290:L:P ENST00000359106;NM_018896.4 17 48703850 rs765996819 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2291Glu p.Gly2291Glu c.6872G>A missense_variant 5 2.51541952166782e-05 4 0 0 0 0 1 0 0 CACNA1G constrhet 2291 E G 1 CACNA1G:2291:G:E ENST00000359106;NM_018896.4 17 48703853 rs751060300 G A gnomAD Exomes PASS NA p.Gly2292Asp p.Gly2292Asp c.6875G>A missense_variant 6 3.4186086262891e-05 1 0 0 4 0 1 0 0 CACNA1G constrhet 2292 D G 1 CACNA1G:2292:G:D ENST00000359106;NM_018896.4 17 48703864 rs1474399580 G T gnomAD Exomes PASS NA p.Gly2296Trp p.Gly2296Trp c.6886G>T missense_variant 3 1.76651396134867e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 2296 W G 1 CACNA1G:2296:G:W ENST00000359106;NM_018896.4 17 48703870 rs755917885 C T gnomAD Exomes PASS NA p.Pro2298Ser p.Pro2298Ser c.6892C>T missense_variant 7 4.20011760329289e-05 0 0 0 0 0 6 1 0 CACNA1G constrhet 2298 S P 1 CACNA1G:2298:P:S ENST00000359106;NM_018896.4 17 48703879 rs374573766 C T gnomAD Exomes PASS NA p.Arg2301Trp p.Arg2301Trp c.6901C>T missense_variant 3 1.83495216891346e-05 0 1 0 1 0 0 1 0 CACNA1G constrhet 2301 W R 1 CACNA1G:2301:R:W ENST00000359106;NM_018896.4 17 48703880 rs757138454 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2301Gln p.Arg2301Gln c.6902G>A missense_variant 7 3.78550260658894e-05 1 0 0 1 0 4 0 1 CACNA1G constrhet 2301 Q R 1 CACNA1G:2301:R:Q ENST00000359106;NM_018896.4 17 48703891 rs778995997 A C gnomAD Exomes PASS NA p.Lys2305Gln p.Lys2305Gln c.6913A>C missense_variant 2 1.19464321980241e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 2305 Q K 1 CACNA1G:2305:K:Q ENST00000359106;NM_018896.4 17 48703919 rs766047428 A C gnomAD Exomes PASS NA p.Asp2314Ala p.Asp2314Ala c.6941A>C missense_variant 3 1.75463222908478e-05 0 0 0 0 0 2 0 1 CACNA1G constrhet 2314 A D 1 CACNA1G:2314:D:A ENST00000359106;NM_018896.4 17 48703921 rs768911008 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2315Thr p.Pro2315Thr c.6943C>A missense_variant 3 1.5248396376981e-05 0 0 0 0 0 3 0 0 CACNA1G constrhet 2315 T P 1 CACNA1G:2315:P:T ENST00000359106;NM_018896.4 17 48703924 rs762245146 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2316Ala p.Pro2316Ala c.6946C>G missense_variant 8 3.94520115594394e-05 0 0 0 1 0 7 0 0 CACNA1G constrhet 2316 A P 1 CACNA1G:2316:P:A ENST00000359106;NM_018896.4 17 48703927 rs767121010 G A gnomAD Exomes PASS NA p.Glu2317Lys p.Glu2317Lys c.6949G>A missense_variant 3 1.63835945606466e-05 0 0 0 0 0 2 0 1 CACNA1G constrhet 2317 K E 1 CACNA1G:2317:E:K ENST00000359106;NM_018896.4 17 48703936 rs760308715 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2320Cys p.Gly2320Cys c.6958G>T missense_variant 4 1.88793233650506e-05 0 1 0 0 0 2 1 0 CACNA1G constrhet 2320 C G 1 CACNA1G:2320:G:C ENST00000359106;NM_018896.4 17 48703942 rs753629595 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2322Trp p.Arg2322Trp c.6964C>T missense_variant 3 1.37825843264451e-05 0 0 0 0 0 2 1 0 CACNA1G constrhet 2322 W R 1 CACNA1G:2322:R:W ENST00000359106;NM_018896.4 17 48703943 rs60940191 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2322Gln p.Arg2322Gln c.6965G>A missense_variant 114 0.000523238201896509 97 14 0 0 0 1 0 2 CACNA1G constrhet 2322 Q R 1 CACNA1G:2322:R:Q ENST00000359106;NM_018896.4 17 48703949 rs866616905 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2324Leu p.Pro2324Leu c.6971C>T missense_variant 2 9.0519036153303e-06 1 1 0 0 0 0 0 0 CACNA1G constrhet 2324 L P 1 CACNA1G:2324:P:L ENST00000359106;NM_018896.4 17 48703951 rs747212445 C A gnomAD Exomes PASS NA p.Pro2325Thr p.Pro2325Thr c.6973C>A missense_variant 3 1.49086102193554e-05 0 0 0 0 0 0 0 3 CACNA1G constrhet 2325 T P 1 CACNA1G:2325:P:T ENST00000359106;NM_018896.4 17 48703955 rs546393701 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2326Asn p.Ser2326Asn c.6977G>A missense_variant 130 0.000581005586592179 0 0 0 5 0 0 5 120 CACNA1G constrhet 2326 N S 1 CACNA1G:2326:S:N ENST00000359106;NM_018896.4 17 48703972 rs773912939 C T gnomAD Exomes PASS NA p.Arg2332Trp p.Arg2332Trp c.6994C>T missense_variant 5 2.44989955411828e-05 0 1 0 0 0 1 0 3 CACNA1G constrhet 2332 W R 1 CACNA1G:2332:R:W ENST00000359106;NM_018896.4 17 48703973 rs1180808585 G A gnomAD Exomes PASS NA p.Arg2332Gln p.Arg2332Gln c.6995G>A missense_variant 2 9.79192166462668e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2332 Q R 1 CACNA1G:2332:R:Q ENST00000359106;NM_018896.4 17 48703985 rs763847174 C T gnomAD Exomes PASS NA p.Pro2336Leu p.Pro2336Leu c.7007C>T missense_variant 4 1.95299149472204e-05 0 0 0 3 0 0 0 1 CACNA1G constrhet 2336 L P 1 CACNA1G:2336:P:L ENST00000359106;NM_018896.4 17 48704003 rs371740197 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp2342Val p.Asp2342Val c.7025A>T missense_variant 5 2.20713522676107e-05 1 0 0 0 0 4 0 0 CACNA1G constrhet 2342 V D 1 CACNA1G:2342:D:V ENST00000359106;NM_018896.4 17 48704006 rs1416571569 C T gnomAD Genomes NA PASS p.Pro2343Leu p.Pro2343Leu c.7028C>T missense_variant 2 9.43396226415094e-05 0 0 0 0 0 2 0 0 CACNA1G constrhet 2343 L P 1 CACNA1G:2343:P:L ENST00000359106;NM_018896.4 17 48704023 rs541601922 C G gnomAD Exomes PASS NA p.Pro2349Ala p.Pro2349Ala c.7045C>G missense_variant 6 2.91908301872105e-05 0 3 0 0 0 3 0 0 CACNA1G constrhet 2349 A P 1 CACNA1G:2349:P:A ENST00000359106;NM_018896.4 17 48704028 rs199695347 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp2350Glu p.Asp2350Glu c.7050C>G missense_variant 13 5.7338437924525e-05 0 0 0 0 0 13 0 0 CACNA1G constrhet 2350 E D 1 CACNA1G:2350:D:E ENST00000359106;NM_018896.4 17 48704032 rs770346928 A G gnomAD Exomes PASS NA p.Met2352Val p.Met2352Val c.7054A>G missense_variant 12 5.83935922764742e-05 0 0 0 12 0 0 0 0 CACNA1G constrhet 2352 V M 1 CACNA1G:2352:M:V ENST00000359106;NM_018896.4 17 48704044 rs200980376 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2356Ser p.Pro2356Ser c.7066C>T missense_variant 87 0.000383885628557561 5 1 0 0 8 72 1 0 CACNA1G constrhet 2356 S P 1 CACNA1G:2356:P:S ENST00000359106;NM_018896.4 17 48704053 rs1006542384 A G gnomAD Exomes PASS NA p.Lys2359Glu p.Lys2359Glu c.7075A>G missense_variant 2 9.73633991509912e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2359 E K 1 CACNA1G:2359:K:E ENST00000359106;NM_018896.4 17 48704058 rs59256133 A C gnomAD Exomes PASS NA p.Lys2360Asn p.Lys2360Asn c.7080A>C missense_variant 2 9.73719315670065e-06 0 0 0 0 0 2 0 0 CACNA1G constrhet 2360 N K 1 CACNA1G:2360:K:N ENST00000359106;NM_018896.4 17 48704060 rs746579625 A T gnomAD Exomes PASS NA p.Asp2361Val p.Asp2361Val c.7082A>T missense_variant 10 4.86835955756348e-05 0 0 0 0 0 10 0 0 CACNA1G constrhet 2361 V D 1 CACNA1G:2361:D:V ENST00000359106;NM_018896.4 17 48704071 rs776413505 C G gnomAD Exomes PASS NA p.Leu2365Val p.Leu2365Val c.7093C>G missense_variant 4 1.94817845314631e-05 0 4 0 0 0 0 0 0 CACNA1G constrhet 2365 V L 1 CACNA1G:2365:L:V ENST00000359106;NM_018896.4 17 48704077 rs772947233 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2367Ser p.Gly2367Ser c.7099G>A missense_variant 18 7.94751110443913e-05 0 1 0 0 0 16 0 1 CACNA1G constrhet 2367 S G 1 CACNA1G:2367:G:S ENST00000359106;NM_018896.4 17 48704104 rs372838388 G T gnomAD Exomes PASS NA p.Asp2376Tyr p.Asp2376Tyr c.7126G>T missense_variant 2 9.75923956005348e-06 2 0 0 0 0 0 0 0 CACNA1G constrhet 2376 Y D 1 CACNA1G:2376:D:Y ENST00000359106;NM_018896.4 17 62018174 rs376833596 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1823Arg p.Pro1823Arg c.5468C>G missense_variant 156 0.000699187866401334 4 1 0 45 0 1 2 103 SCN4A constr 1823 R P 1 SCN4A:1823:P:R ENST00000435607;NM_000334.4;XM_005257566.1 17 62018218 rs201375413 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1808Ile p.Met1808Ile c.5424G>A missense_variant 34 0.000150026916593859 29 2 0 0 0 2 1 0 SCN4A constr 1808 I M 1 SCN4A:1808:M:I ENST00000435607;NM_000334.4;XM_005257566.1 17 62018276 rs201414160 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1789Leu p.Ser1789Leu c.5366C>T missense_variant 24 0.000105651473397839 20 2 0 0 0 0 1 1 SCN4A constr 1789 L S 1 SCN4A:1789:S:L ENST00000435607;NM_000334.4;XM_005257566.1 17 62018349 rs531694454 C T gnomAD Exomes PASS NA p.Ala1765Thr p.Ala1765Thr c.5293G>A missense_variant 122 0.000592302015768827 0 1 0 1 0 1 2 117 SCN4A constr 1765 T A 1 SCN4A:1765:A:T ENST00000435607;NM_000334.4;XM_005257566.1 17 62018451 rs371104286 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1731Thr p.Ala1731Thr c.5191G>A missense_variant segdup 278 0.0012230855191954 1 0 1 0 0 1 1 274 SCN4A constr 1731 T A 1 SCN4A:1731:A:T ENST00000435607;NM_000334.4;XM_005257566.1 17 62018471 rs539487509 C T gnomAD Exomes PASS NA p.Arg1724Lys p.Arg1724Lys c.5171G>A missense_variant segdup 27 0.000131033612548167 0 0 0 0 0 0 0 27 SCN4A constr 1724 K R 1 SCN4A:1724:R:K ENST00000435607;NM_000334.4;XM_005257566.1 17 62018756 rs202102815 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1629Leu p.Pro1629Leu c.4886C>T missense_variant segdup 28 0.000123173296029421 0 0 22 0 0 4 2 0 SCN4A constr 1629 L P 1 SCN4A:1629:P:L ENST00000435607;NM_000334.4;XM_005257566.1 17 62018952 rs202106192 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1564Ile p.Val1564Ile c.4690G>A missense_variant segdup 329 0.00144569630710281 9 66 61 0 1 181 11 0 SCN4A constr 1564 I V 1 SCN4A:1564:V:I ENST00000435607;NM_000334.4;XM_005257566.1 17 62019134 rs114900922 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1503Ser p.Asn1503Ser c.4508A>G missense_variant segdup 42 0.000183364476188813 37 4 0 0 0 1 0 0 SCN4A constr 1503 S N 1 SCN4A:1503:N:S ENST00000435607;NM_000334.4;XM_005257566.1 17 62020252 rs118047588 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1408Cys p.Arg1408Cys c.4222C>T missense_variant segdup 49 0.000214564084599553 33 10 0 2 0 2 1 1 SCN4A constr 1408 C R 1 SCN4A:1408:R:C ENST00000435607;NM_000334.4;XM_005257566.1 17 62020273 rs572380012 C T gnomAD Exomes PASS NA p.Val1401Met p.Val1401Met c.4201G>A missense_variant 60 0.000288922703546045 1 2 0 1 0 0 0 56 SCN4A constr 1401 M V 1 SCN4A:1401:V:M ENST00000435607;NM_000334.4;XM_005257566.1 17 62020348 rs2058194 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1376Asp p.Asn1376Asp c.4126A>G missense_variant 120997 0.528066791194595 14386 15294 3852 7553 9163 55644 3044 12061 SCN4A constr 1376 D N 1 SCN4A:1376:N:D ENST00000435607;NM_000334.4;XM_005257566.1 17 62020426 rs200274258 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1350Met p.Val1350Met c.4048G>A missense_variant 39 0.000170421772036846 6 27 0 1 0 5 0 0 SCN4A constr 1350 M V 1 SCN4A:1350:V:M ENST00000435607;NM_000334.4;XM_005257566.1 17 62026111 rs544082594 A G gnomAD Exomes PASS NA p.Trp1002Arg p.Trp1002Arg c.3004T>C missense_variant 84 0.000412776412776413 0 31 0 0 0 0 3 50 SCN4A constr 1002 R W 1 SCN4A:1002:W:R ENST00000435607;NM_000334.4;XM_005257566.1 17 62026114 rs199713025 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1001Cys p.Arg1001Cys c.3001C>T missense_variant 34 0.000151905068267925 30 1 0 1 0 1 0 1 SCN4A constr 1001 C R 1 SCN4A:1001:R:C ENST00000435607;NM_000334.4;XM_005257566.1 17 62026120 rs377277110 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val999Met p.Val999Met c.2995G>A missense_variant 24 0.000107651317382996 18 0 0 1 0 3 0 2 SCN4A constr 999 M V 1 SCN4A:999:V:M ENST00000435607;NM_000334.4;XM_005257566.1 17 62026852 rs200947169 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val964Ile p.Val964Ile c.2890G>A missense_variant 260 0.00115290132051544 4 20 0 0 178 49 8 1 SCN4A constr 964 I V 1 SCN4A:964:V:I ENST00000435607;NM_000334.4;XM_005257566.1 17 62026881 rs201367621 G A gnomAD Exomes PASS NA p.Pro954Leu p.Pro954Leu c.2861C>T missense_variant 33 0.000163209590789044 1 7 0 0 0 7 1 17 SCN4A constr 954 L P 1 SCN4A:954:P:L ENST00000435607;NM_000334.4;XM_005257566.1 17 62028840 rs757508857 G C gnomAD Exomes PASS NA p.Leu933Val p.Leu933Val c.2797C>G missense_variant 35 0.000169912810454978 0 30 0 0 0 0 5 0 SCN4A constr 933 V L 1 SCN4A:933:L:V ENST00000435607;NM_000334.4;XM_005257566.1 17 62028889 rs115379510 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn916Lys p.Asn916Lys c.2748C>G missense_variant 179 0.000787554006846 170 6 0 0 0 1 2 0 SCN4A constr 916 K N 1 SCN4A:916:N:K ENST00000435607;NM_000334.4;XM_005257566.1 17 62028915 rs117664682 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu908Lys p.Glu908Lys c.2722G>A missense_variant 1420 0.00625060525226915 6 1062 0 293 0 4 23 32 SCN4A constr 908 K E 1 SCN4A:908:E:K ENST00000435607;NM_000334.4;XM_005257566.1 17 62028920 rs41280102 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser906Thr p.Ser906Thr c.2717G>C missense_variant 2155 0.00948545270478454 51 250 154 0 24 1608 60 8 SCN4A constr 906 T S 1 SCN4A:906:S:T ENST00000435607;NM_000334.4;XM_005257566.1 17 62028933 rs200517944 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly902Ser p.Gly902Ser c.2704G>A missense_variant 39 0.000171660973977957 0 1 0 0 0 38 0 0 SCN4A constr 902 S G 1 SCN4A:902:G:S ENST00000435607;NM_000334.4;XM_005257566.1 17 62028992 rs111858905 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro882Gln p.Pro882Gln c.2645C>A missense_variant 255 0.0011414503133393 234 12 0 0 0 8 1 0 SCN4A constr 882 Q P 1 SCN4A:882:P:Q ENST00000435607;NM_000334.4;XM_005257566.1 17 62029014 rs201148948 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro875Ser p.Pro875Ser c.2623C>T missense_variant 215 0.00103998374723074 9 3 4 0 4 192 3 0 SCN4A constr 875 S P 1 SCN4A:875:P:S ENST00000435607;NM_000334.4;XM_005257566.1 17 62029074 rs372019457 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met855Val p.Met855Val c.2563A>G missense_variant 40 0.000200242293174741 0 4 0 0 5 31 0 0 SCN4A constr 855 V M 1 SCN4A:855:M:V ENST00000435607;NM_000334.4;XM_005257566.1 17 62034557 rs62070884 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val781Ile p.Val781Ile c.2341G>A missense_variant 2269 0.0103490111654382 38 924 9 283 153 766 41 55 SCN4A constr 781 I V 1 SCN4A:781:V:I ENST00000435607;NM_000334.4;XM_005257566.1 17 62034710 rs113462659 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val730Met p.Val730Met c.2188G>A missense_variant 143 0.000625158475487667 3 0 0 0 2 113 2 23 SCN4A constr 730 M V 1 SCN4A:730:V:M ENST00000435607;NM_000334.4;XM_005257566.1 17 62038602 rs187401185 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.His599Arg p.His599Arg c.1796A>G missense_variant 617 0.00271928355472503 17 26 20 0 30 490 17 17 SCN4A constr 599 R H 1 SCN4A:599:H:R ENST00000435607;NM_000334.4;XM_005257566.1 17 62038775 rs538390338 G C gnomAD Exomes PASS NA p.His541Gln p.His541Gln c.1623C>G missense_variant 67 0.000327039850049788 0 0 0 0 0 0 1 66 SCN4A constr 541 Q H 1 SCN4A:541:H:Q ENST00000435607;NM_000334.4;XM_005257566.1 17 62041062 rs181292216 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly526Arg p.Gly526Arg c.1576G>A missense_variant 44 0.000203456917997614 41 0 0 1 0 2 0 0 SCN4A constr 526 R G 1 SCN4A:526:G:R ENST00000435607;NM_000334.4;XM_005257566.1 17 62041068 rs6504191 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser524Gly p.Ser524Gly c.1570A>G missense_variant 202268 0.930883720074004 16248 28798 6024 13878 13940 90052 4877 28451 SCN4A constr 524 G S 1 SCN4A:524:S:G ENST00000435607;NM_000334.4;XM_005257566.1 17 62041118 rs201793080 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn507Ser p.Asn507Ser c.1520A>G missense_variant 46 0.000209620677712765 33 10 0 1 0 0 1 1 SCN4A constr 507 S N 1 SCN4A:507:N:S ENST00000435607;NM_000334.4;XM_005257566.1 17 62041176 rs185941768 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala488Thr p.Ala488Thr c.1462G>A missense_variant 116 0.000560624806681101 1 8 0 1 19 87 0 0 SCN4A constr 488 T A 1 SCN4A:488:A:T ENST00000435607;NM_000334.4;XM_005257566.1 17 62041850 rs182691342 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys477Arg p.Lys477Arg c.1430A>G missense_variant 332 0.00146174370173384 0 326 0 0 0 2 4 0 SCN4A constr 477 R K 1 SCN4A:477:K:R ENST00000435607;NM_000334.4;XM_005257566.1 17 62041867 rs527384137 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Met471Ile p.Met471Ile c.1413G>A missense_variant 148 0.000651540364686512 0 0 5 0 0 21 9 113 SCN4A constr 471 I M 1 SCN4A:471:M:I ENST00000435607;NM_000334.4;XM_005257566.1 17 62041992 rs149907018 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile430Val p.Ile430Val c.1288A>G missense_variant 90 0.000399776125369793 0 0 0 88 0 1 1 0 SCN4A constr 430 V I 1 SCN4A:430:I:V ENST00000435607;NM_000334.4;XM_005257566.1 17 62043584 rs766463226 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu374Lys p.Glu374Lys c.1120G>A missense_variant 30 0.000140880786678313 0 0 17 11 0 2 0 0 SCN4A constr 374 K E 1 SCN4A:374:E:K ENST00000435607;NM_000334.4;XM_005257566.1 17 62043877 rs374835121 T C gnomAD Exomes PASS NA p.Asn355Ser p.Asn355Ser c.1064A>G missense_variant 22 0.00010681478316599 0 19 0 0 0 0 3 0 SCN4A constr 355 S N 1 SCN4A:355:N:S ENST00000435607;NM_000334.4;XM_005257566.1 17 62045401 rs147936148 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala340Thr p.Ala340Thr c.1018G>A missense_variant 41 0.00018090363572185 1 1 0 32 0 7 0 0 SCN4A constr 340 T A 1 SCN4A:340:A:T ENST00000435607;NM_000334.4;XM_005257566.1 17 62045451 rs80338952 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr323Met p.Thr323Met c.968C>T missense_variant 1992 0.00876313149976245 20 83 101 0 375 1335 45 33 SCN4A constr 323 M T 1 SCN4A:323:T:M ENST00000435607;NM_000334.4;XM_005257566.1 17 62045467 rs199676994 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Trp318Arg p.Trp318Arg c.952T>C missense_variant 124 0.000545496137535413 2 1 1 0 1 110 3 6 SCN4A constr 318 R W 1 SCN4A:318:W:R ENST00000435607;NM_000334.4;XM_005257566.1 17 62045574 rs200615763 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg282His p.Arg282His c.845G>A missense_variant 32 0.000140800450561442 13 1 0 8 0 4 1 5 SCN4A constr 282 H R 1 SCN4A:282:R:H ENST00000435607;NM_000334.4;XM_005257566.1 17 62045616 rs748199549 C G gnomAD Exomes PASS NA p.Gly268Ala p.Gly268Ala c.803G>C missense_variant 24 0.000116609009989505 0 0 0 0 21 3 0 0 SCN4A constr 268 A G 1 SCN4A:268:G:A ENST00000435607;NM_000334.4;XM_005257566.1 17 62045680 rs755321637 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Val247Leu p.Val247Leu c.739G>C missense_variant 41 0.000183440265585711 0 38 0 0 0 0 3 0 SCN4A constr 247 L V 1 SCN4A:247:V:L ENST00000435607;NM_000334.4;XM_005257566.1 17 62049530 rs543502873 T G gnomAD Exomes PASS NA p.Met150Leu p.Met150Leu c.448A>C missense_variant 61 0.000296802319923707 0 0 0 0 0 0 2 59 SCN4A constr 150 L M 1 SCN4A:150:M:L ENST00000435607;NM_000334.4;XM_005257566.1 17 62049542 rs367988986 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val146Ile p.Val146Ile c.436G>A missense_variant 23 0.000101455668284076 16 1 0 1 0 4 0 1 SCN4A constr 146 I V 1 SCN4A:146:V:I ENST00000435607;NM_000334.4;XM_005257566.1 17 62049574 rs115304957 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met135Thr p.Met135Thr c.404T>C missense_variant 326 0.00143925547226122 292 32 0 0 0 1 1 0 SCN4A constr 135 T M 1 SCN4A:135:M:T ENST00000435607;NM_000334.4;XM_005257566.1 17 62049575 rs148028364 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met135Leu p.Met135Leu c.403A>C missense_variant 143 0.000631430211507043 0 11 80 0 0 42 10 0 SCN4A constr 135 L M 1 SCN4A:135:M:L ENST00000435607;NM_000334.4;XM_005257566.1 17 62049749 rs41280110 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val119Ile p.Val119Ile c.355G>A missense_variant 524 0.00230605383139402 11 22 0 1 31 400 8 51 SCN4A constr 119 I V 1 SCN4A:119:V:I ENST00000435607;NM_000334.4;XM_005257566.1 17 62049954 rs147352060 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu83Pro p.Leu83Pro c.248T>C missense_variant 103 0.000502257721602934 92 7 0 0 0 1 2 1 SCN4A constr 83 P L 1 SCN4A:83:L:P ENST00000435607;NM_000334.4;XM_005257566.1 17 62049961 rs111926172 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu81Gln p.Glu81Gln c.241G>C missense_variant 287 0.00137517968375659 270 15 0 0 0 0 2 0 SCN4A constr 81 Q E 1 SCN4A:81:E:Q ENST00000435607;NM_000334.4;XM_005257566.1 17 62049967 rs376505442 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro79Ser p.Pro79Ser c.235C>T missense_variant 31 0.000146778913078475 30 0 0 0 0 1 0 0 SCN4A constr 79 S P 1 SCN4A:79:P:S ENST00000435607;NM_000334.4;XM_005257566.1 17 62050048 rs201379704 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg52Trp p.Arg52Trp c.154C>T missense_variant 205 0.000904845558311779 181 21 0 1 0 1 1 0 SCN4A constr 52 W R 1 SCN4A:52:R:W ENST00000435607;NM_000334.4;XM_005257566.1 17 62050057 rs368011562 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu49Lys p.Glu49Lys c.145G>A missense_variant 28 0.000123495995201298 0 1 0 0 0 26 1 0 SCN4A constr 49 K E 1 SCN4A:49:E:K ENST00000435607;NM_000334.4;XM_005257566.1 17 62050110 rs112142736 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg31Leu p.Arg31Leu c.92G>T missense_variant 332 0.00146870161468702 313 17 0 0 0 0 2 0 SCN4A constr 31 L R 1 SCN4A:31:R:L ENST00000435607;NM_000334.4;XM_005257566.1 17 62050111 rs756059775 G A gnomAD Exomes PASS NA p.Arg31Trp p.Arg31Trp c.91C>T missense_variant 23 0.000112395789555988 0 1 0 4 0 1 0 17 SCN4A constr 31 W R 1 SCN4A:31:R:W ENST00000435607;NM_000334.4;XM_005257566.1 17 62050150 rs78592515 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg18Ser p.Arg18Ser c.52C>A missense_variant 94 0.000416382433976807 2 3 0 0 3 85 1 0 SCN4A constr 18 S R 1 SCN4A:18:R:S ENST00000435607;NM_000334.4;XM_005257566.1 17 62050150 rs78592515 G A gnomAD Exomes PASS NA p.Arg18Cys p.Arg18Cys c.52C>T missense_variant 64 0.000312921710899454 0 1 0 61 0 0 1 1 SCN4A constr 18 C R 1 SCN4A:18:R:C ENST00000435607;NM_000334.4;XM_005257566.1 17 62050156 rs773541890 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys16Ser p.Cys16Ser c.46T>A missense_variant 34 0.000150478432899896 0 0 0 0 0 0 1 33 SCN4A constr 16 S C 1 SCN4A:16:C:S ENST00000435607;NM_000334.4;XM_005257566.1 1 201009011 rs72749169 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1857Asn p.Ser1857Asn c.5570G>A missense_variant NA 504 0.00220864702840565 17 19 1 0 20 437 8 2 CACNA1S constr 1857 N S 1 CACNA1S:1857:S:N ENST00000362061;NM_000069.2 1 201009027 rs540721779 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1852Arg p.Gly1852Arg c.5554G>A missense_variant NA 60 0.000262084268828571 0 0 0 57 0 1 1 1 CACNA1S constr 1852 R G 1 CACNA1S:1852:G:R ENST00000362061;NM_000069.2 1 201009066 rs149547196 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1839Ser p.Pro1839Ser c.5515C>T missense_variant NA 529 0.00230704149185776 8 112 13 0 1 364 24 7 CACNA1S constr 1839 S P 1 CACNA1S:1839:P:S ENST00000362061;NM_000069.2 1 201009071 rs200765341 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1837Ala p.Glu1837Ala c.5510A>C missense_variant NA 74 0.000322656597455373 0 58 7 0 0 5 4 0 CACNA1S constr 1837 A E 1 CACNA1S:1837:E:A ENST00000362061;NM_000069.2 1 201009182 rs12139527 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1800Ser p.Leu1800Ser c.5399T>C missense_variant NA 35114 0.153596486623624 10923 2611 1009 1824 2489 13200 846 2212 CACNA1S constr 1800 S L 1 CACNA1S:1800:L:S ENST00000362061;NM_000069.2 1 201009430 rs200434921 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1767Thr p.Pro1767Thr c.5299C>A missense_variant NA 49 0.00021429758499742 0 5 13 0 0 31 0 0 CACNA1S constr 1767 T P 1 CACNA1S:1767:P:T ENST00000362061;NM_000069.2 1 201010679 rs367577681 G A gnomAD Exomes PASS NA p.Thr1696Met p.Thr1696Met c.5087C>T missense_variant NA 175 0.000841281439889239 1 0 0 1 0 2 4 167 CACNA1S constr 1696 M T 1 CACNA1S:1696:T:M ENST00000362061;NM_000069.2 1 201012449 rs146696748 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr1670Asn p.Tyr1670Asn c.5008T>A missense_variant NA 35 0.000152706393598548 2 1 0 0 0 31 1 0 CACNA1S constr 1670 N Y 1 CACNA1S:1670:Y:N ENST00000362061;NM_000069.2 1 201012484 rs13374149 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1658His p.Arg1658His c.4973G>A missense_variant NA 14857 0.0647860668748147 5292 1021 677 10 984 5363 361 1149 CACNA1S constr 1658 H R 1 CACNA1S:1658:R:H ENST00000362061;NM_000069.2 1 201012485 rs147392278 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1658Cys p.Arg1658Cys c.4972C>T missense_variant NA 98 0.000427268446661202 4 39 0 0 5 50 0 0 CACNA1S constr 1658 C R 1 CACNA1S:1658:R:C ENST00000362061;NM_000069.2 1 201012503 rs143933255 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1652Cys p.Arg1652Cys c.4954C>T missense_variant NA 69 0.000300808258712541 1 3 38 0 0 21 2 4 CACNA1S constr 1652 C R 1 CACNA1S:1652:R:C ENST00000362061;NM_000069.2 1 201012574 rs576536458 A G gnomAD Exomes PASS NA p.Leu1628Pro p.Leu1628Pro c.4883T>C missense_variant NA 41 0.000196999836634282 0 0 0 0 0 0 0 41 CACNA1S constr 1628 P L 1 CACNA1S:1628:L:P ENST00000362061;NM_000069.2 1 201013506 rs148273582 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1583Lys p.Glu1583Lys c.4747G>A missense_variant NA 59 0.000257331774804166 1 10 24 0 0 24 0 0 CACNA1S constr 1583 K E 1 CACNA1S:1583:E:K ENST00000362061;NM_000069.2 1 201013535 rs183195890 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1573Met p.Thr1573Met c.4718C>T missense_variant NA 67 0.000292481905410479 1 13 0 11 1 39 1 1 CACNA1S constr 1573 M T 1 CACNA1S:1573:T:M ENST00000362061;NM_000069.2 1 201013574 rs372436488 C T gnomAD Exomes PASS NA p.Arg1560Gln p.Arg1560Gln c.4679G>A missense_variant NA 29 0.000139834513086582 0 28 0 0 0 1 0 0 CACNA1S constr 1560 Q R 1 CACNA1S:1560:R:Q ENST00000362061;NM_000069.2 1 201016296 rs3850625 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1539Cys p.Arg1539Cys c.4615C>T missense_variant NA 26701 0.116417272711418 419 3013 610 517 2720 12352 636 6434 CACNA1S constr 1539 C R 1 CACNA1S:1539:R:C ENST00000362061;NM_000069.2 1 201016734 rs533353353 C T gnomAD Exomes PASS NA p.Glu1488Lys p.Glu1488Lys c.4462G>A missense_variant NA 46 0.000221041200157612 0 0 0 1 0 1 0 44 CACNA1S constr 1488 K E 1 CACNA1S:1488:E:K ENST00000362061;NM_000069.2 1 201017811 rs377474103 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1447Gln p.Arg1447Gln c.4340G>A missense_variant NA 23 0.000100832083892294 0 3 0 0 0 19 1 0 CACNA1S constr 1447 Q R 1 CACNA1S:1447:R:Q ENST00000362061;NM_000069.2 1 201020165 rs145910245 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1354Ser p.Thr1354Ser c.4060A>T missense_variant NA 602 0.00262437442237606 18 39 36 0 33 464 12 0 CACNA1S constr 1354 S T 1 CACNA1S:1354:T:S ENST00000362061;NM_000069.2 1 201021748 rs749856222 C T gnomAD Exomes PASS NA p.Gly1297Glu p.Gly1297Glu c.3890G>A missense_variant NA 71 0.000341126389729693 0 71 0 0 0 0 0 0 CACNA1S constr 1297 E G 1 CACNA1S:1297:G:E ENST00000362061;NM_000069.2 1 201022354 rs774300377 C A gnomAD Exomes PASS NA p.Ala1282Ser p.Ala1282Ser c.3844G>T missense_variant NA 21 0.000100914962325081 0 21 0 0 0 0 0 0 CACNA1S constr 1282 S A 1 CACNA1S:1282:A:S ENST00000362061;NM_000069.2 1 201022387 rs138144724 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1271Thr p.Ala1271Thr c.3811G>A missense_variant NA 395 0.00172258902950642 373 12 0 0 0 5 4 1 CACNA1S constr 1271 T A 1 CACNA1S:1271:A:T ENST00000362061;NM_000069.2 1 201022621 rs530655602 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1254Gln p.Arg1254Gln c.3761G>A missense_variant NA 156 0.000680254310457602 3 0 0 1 1 9 9 133 CACNA1S constr 1254 Q R 1 CACNA1S:1254:R:Q ENST00000362061;NM_000069.2 1 201023635 rs202240111 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1222Ile p.Val1222Ile c.3664G>A missense_variant NA 33 0.000144224465713911 0 8 0 25 0 0 0 0 CACNA1S constr 1222 I V 1 CACNA1S:1222:V:I ENST00000362061;NM_000069.2 1 201023671 rs148870919 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1210Arg p.Gly1210Arg c.3628G>A missense_variant NA 98 0.000429447852760736 6 3 0 0 0 87 1 1 CACNA1S constr 1210 R G 1 CACNA1S:1210:G:R ENST00000362061;NM_000069.2 1 201028417 rs139373152 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1142Pro p.Gln1142Pro c.3425A>C missense_variant NA 67 0.000292216571732626 54 7 0 0 0 5 1 0 CACNA1S constr 1142 P Q 1 CACNA1S:1142:Q:P ENST00000362061;NM_000069.2 1 201029794 rs145039828 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1136Ser p.Gly1136Ser c.3406G>A missense_variant NA 25 0.000108990400125557 0 2 0 0 0 15 0 8 CACNA1S constr 1136 S G 1 CACNA1S:1136:G:S ENST00000362061;NM_000069.2 1 201029869 rs200558548 C T gnomAD Exomes PASS NA p.Val1111Met p.Val1111Met c.3331G>A missense_variant NA 61 0.000293077603105662 0 61 0 0 0 0 0 0 CACNA1S constr 1111 M V 1 CACNA1S:1111:V:M ENST00000362061;NM_000069.2 1 201030460 rs138837077 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1064Ile p.Val1064Ile c.3190G>A missense_variant NA 29 0.000126433273749837 0 3 0 2 0 20 0 4 CACNA1S constr 1064 I V 1 CACNA1S:1064:V:I ENST00000362061;NM_000069.2 1 201030526 rs562504992 C T gnomAD Exomes PASS NA p.Ala1042Thr p.Ala1042Thr c.3124G>A missense_variant NA 26 0.000124921923797626 0 0 0 0 0 0 0 26 CACNA1S constr 1042 T A 1 CACNA1S:1042:A:T ENST00000362061;NM_000069.2 1 201030535 rs1181546182 C T gnomAD Genomes NA PASS p.Val1039Met p.Val1039Met c.3115G>A missense_variant NA 5 0.000235183443085607 0 0 0 0 0 5 0 0 CACNA1S constr 1039 M V 1 CACNA1S:1039:V:M ENST00000362061;NM_000069.2 1 201031133 rs116347156 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp998Asn p.Asp998Asn c.2992G>A missense_variant NA 130 0.000566982432267406 117 1 0 0 0 4 1 7 CACNA1S constr 998 N D 1 CACNA1S:998:D:N ENST00000362061;NM_000069.2 1 201031162 rs747618077 C T gnomAD Exomes PASS NA p.Arg988His p.Arg988His c.2963G>A missense_variant NA 24 0.000115425680290103 0 24 0 0 0 0 0 0 CACNA1S constr 988 H R 1 CACNA1S:988:R:H ENST00000362061;NM_000069.2 1 201031165 rs201174511 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.His987Arg p.His987Arg c.2960A>G missense_variant NA 75 0.000327302243984185 0 0 0 73 0 0 2 0 CACNA1S constr 987 R H 1 CACNA1S:987:H:R ENST00000362061;NM_000069.2 1 201031168 rs140453525 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg986His p.Arg986His c.2957G>A missense_variant NA 27 0.000117839092900849 15 3 0 0 0 6 1 2 CACNA1S constr 986 H R 1 CACNA1S:986:R:H ENST00000362061;NM_000069.2 1 201036078 rs545411173 C T gnomAD Exomes PASS NA p.Arg865His p.Arg865His c.2594G>A missense_variant NA 33 0.000158571510946239 1 16 0 1 0 2 5 8 CACNA1S constr 865 H R 1 CACNA1S:865:R:H ENST00000362061;NM_000069.2 1 201036117 rs200334886 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr852Met p.Thr852Met c.2555C>T missense_variant NA 26 0.000113724838379509 0 1 0 0 16 6 0 3 CACNA1S constr 852 M T 1 CACNA1S:852:T:M ENST00000362061;NM_000069.2 1 201038610 rs61238538 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met827Thr p.Met827Thr c.2480T>C missense_variant NA 710 0.00335446805695981 649 49 0 0 0 10 2 0 CACNA1S constr 827 T M 1 CACNA1S:827:M:T ENST00000362061;NM_000069.2 1 201038650 rs139956524 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala814Thr p.Ala814Thr c.2440G>A missense_variant NA 243 0.00124392116713591 6 7 17 0 3 195 7 8 CACNA1S constr 814 T A 1 CACNA1S:814:A:T ENST00000362061;NM_000069.2 1 201038709 rs760674518 C T gnomAD Exomes PASS NA p.Arg794His p.Arg794His c.2381G>A missense_variant NA 24 0.000174307129161583 2 20 0 0 0 0 0 2 CACNA1S constr 794 H R 1 CACNA1S:794:R:H ENST00000362061;NM_000069.2 1 201039464 rs771865391 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu766Met p.Leu766Met c.2296C>A missense_variant NA 65 0.000283491216133703 2 1 0 0 0 8 2 52 CACNA1S constr 766 M L 1 CACNA1S:766:L:M ENST00000362061;NM_000069.2 1 201042735 rs147112322 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr700Met p.Thr700Met c.2099C>T missense_variant NA 40 0.000174378558412458 2 11 0 0 0 24 2 1 CACNA1S constr 700 M T 1 CACNA1S:700:T:M ENST00000362061;NM_000069.2 1 201043650 rs35708442 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg683Cys p.Arg683Cys c.2047C>T missense_variant NA 732 0.00319753981635987 659 53 0 1 0 12 7 0 CACNA1S constr 683 C R 1 CACNA1S:683:R:C ENST00000362061;NM_000069.2 1 201044668 rs201784750 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met635Val p.Met635Val c.1903A>G missense_variant NA 87 0.000379286592436938 0 0 37 0 0 10 4 36 CACNA1S constr 635 V M 1 CACNA1S:635:M:V ENST00000362061;NM_000069.2 1 201046058 rs142356235 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser606Asn p.Ser606Asn c.1817G>A missense_variant NA 1934 0.00843076225599177 40 100 13 0 282 1339 47 113 CACNA1S constr 606 N S 1 CACNA1S:606:S:N ENST00000362061;NM_000069.2 1 201046095 rs200165212 G A gnomAD Exomes PASS NA p.Arg594Cys p.Arg594Cys c.1780C>T missense_variant NA 137 0.000658229794267155 0 103 0 0 0 2 31 1 CACNA1S constr 594 C R 1 CACNA1S:594:R:C ENST00000362061;NM_000069.2 1 201046164 rs114191482 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val571Ile p.Val571Ile c.1711G>A missense_variant NA 173 0.000754226721424399 156 9 0 1 0 5 1 1 CACNA1S constr 571 I V 1 CACNA1S:571:V:I ENST00000362061;NM_000069.2 1 201046205 rs4915212 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg557His p.Arg557His c.1670G>A missense_variant NA 376 0.00163935855736447 1 362 0 1 0 9 3 0 CACNA1S constr 557 H R 1 CACNA1S:557:R:H ENST00000362061;NM_000069.2 1 201047079 rs140662085 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser516Leu p.Ser516Leu c.1547C>T missense_variant NA 407 0.00177454938653784 2 36 0 1 195 156 13 4 CACNA1S constr 516 L S 1 CACNA1S:516:S:L ENST00000362061;NM_000069.2 1 201047133 rs150590855 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg498His p.Arg498His c.1493G>A missense_variant NA 49 0.000213600697471665 3 4 0 1 1 34 2 4 CACNA1S constr 498 H R 1 CACNA1S:498:R:H ENST00000362061;NM_000069.2 1 201047133 rs150590855 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg498Leu p.Arg498Leu c.1493G>T missense_variant NA 134 0.000584132519616391 5 24 0 1 1 99 4 0 CACNA1S constr 498 L R 1 CACNA1S:498:R:L ENST00000362061;NM_000069.2 1 201047160 rs553739117 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg489His p.Arg489His c.1466G>A missense_variant NA 24 0.000104630784120535 0 16 0 0 0 3 0 5 CACNA1S constr 489 H R 1 CACNA1S:489:R:H ENST00000362061;NM_000069.2 1 201052310 rs12742169 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu458His p.Leu458His c.1373T>A missense_variant NA 53640 0.234282869047931 1296 4039 1906 10 3715 36801 1474 4399 CACNA1S constr 458 H L 1 CACNA1S:458:L:H ENST00000362061;NM_000069.2 1 201052358 rs202217590 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Val442Ala p.Val442Ala c.1325T>C missense_variant NA 37 0.000161302979309623 1 0 0 0 21 12 3 0 CACNA1S constr 442 A V 1 CACNA1S:442:V:A ENST00000362061;NM_000069.2 1 201052359 rs572977674 C T gnomAD Exomes PASS NA p.Val442Ile p.Val442Ile c.1324G>A missense_variant NA 90 0.000432451133021969 1 0 1 0 0 0 5 83 CACNA1S constr 442 I V 1 CACNA1S:442:V:I ENST00000362061;NM_000069.2 1 201052382 rs146136274 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe434Ser p.Phe434Ser c.1301T>C missense_variant NA 113 0.000492585069005501 1 2 90 0 0 12 8 0 CACNA1S constr 434 S F 1 CACNA1S:434:F:S ENST00000362061;NM_000069.2 1 201054144 rs148770452 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp389Val p.Asp389Val c.1166A>T missense_variant NA 34 0.000149441353059592 0 0 0 0 0 33 1 0 CACNA1S constr 389 V D 1 CACNA1S:389:D:V ENST00000362061;NM_000069.2 1 201054602 rs150954040 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr371Met p.Thr371Met c.1112C>T missense_variant NA 91 0.000396790790965379 9 0 0 1 70 7 4 0 CACNA1S constr 371 M T 1 CACNA1S:371:T:M ENST00000362061;NM_000069.2 1 201058391 rs35856559 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr299His p.Tyr299His c.895T>C missense_variant NA 504 0.00219918316054037 462 27 0 3 0 4 4 4 CACNA1S constr 299 H Y 1 CACNA1S:299:Y:H ENST00000362061;NM_000069.2 1 201058513 rs35534614 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly258Val p.Gly258Val c.773G>T missense_variant NA 52 0.00022693351720767 2 0 46 0 0 4 0 0 CACNA1S constr 258 V G 1 CACNA1S:258:G:V ENST00000362061;NM_000069.2 1 201058513 rs35534614 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly258Asp p.Gly258Asp c.773G>A missense_variant NA 1745 0.0076153651447574 29 183 119 0 39 1188 62 125 CACNA1S constr 258 D G 1 CACNA1S:258:G:D ENST00000362061;NM_000069.2 1 201058543 rs200665694 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr248Met p.Thr248Met c.743C>T missense_variant NA 45 0.000196735072179912 2 2 2 1 4 30 2 2 CACNA1S constr 248 M T 1 CACNA1S:248:T:M ENST00000362061;NM_000069.2 1 201061111 rs141204958 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser177Leu p.Ser177Leu c.530C>T missense_variant NA 99 0.000431922096959966 0 3 0 0 3 84 3 6 CACNA1S constr 177 L S 1 CACNA1S:177:S:L ENST00000362061;NM_000069.2 1 201061181 rs761768992 T C gnomAD Exomes PASS NA p.Ser154Gly p.Ser154Gly c.460A>G missense_variant NA 34 0.000163354729599877 0 0 0 0 0 0 0 34 CACNA1S constr 154 G S 1 CACNA1S:154:S:G ENST00000362061;NM_000069.2 1 201063014 rs377030324 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu132Met p.Leu132Met c.394C>A missense_variant NA 354 0.00154325024195025 1 0 0 2 0 0 6 345 CACNA1S constr 132 M L 1 CACNA1S:132:L:M ENST00000362061;NM_000069.2 1 201063025 rs139491817 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr128Ser p.Thr128Ser c.383C>G missense_variant NA 169 0.000736730138801702 154 11 0 0 0 0 1 3 CACNA1S constr 128 S T 1 CACNA1S:128:T:S ENST00000362061;NM_000069.2 1 201063146 rs140330831 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys88Glu p.Lys88Glu c.262A>G missense_variant NA 41 0.000178752049108856 0 3 2 0 1 34 1 0 CACNA1S constr 88 E K 1 CACNA1S:88:K:E ENST00000362061;NM_000069.2 1 201079342 rs771706267 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val70Met p.Val70Met c.208G>A missense_variant NA 45 0.000196184430803571 1 40 0 0 0 3 0 1 CACNA1S constr 70 M V 1 CACNA1S:70:V:M ENST00000362061;NM_000069.2 1 201079344 rs12406479 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala69Gly p.Ala69Gly c.206C>G missense_variant NA 8214 0.0358111348476261 178 587 57 3 823 5106 192 1268 CACNA1S constr 69 G A 1 CACNA1S:69:A:G ENST00000362061;NM_000069.2 22 39966777 rs60192012 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro7Leu p.Pro7Leu c.20C>T missense_variant 2118 0.00985446288989801 1940 110 0 0 2 43 15 8 CACNA1I constrhet 7 L P 1 CACNA1I:7:P:L ENST00000402142;NM_021096.3 22 39966792 rs745710204 C T gnomAD Exomes PASS NA p.Ala12Val p.Ala12Val c.35C>T missense_variant 2 1.00113127834453e-05 0 0 0 2 0 0 0 0 CACNA1I constrhet 12 V A 1 CACNA1I:12:A:V ENST00000402142;NM_021096.3 22 39966806 rs1285437076 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala17Thr p.Ala17Thr c.49G>A missense_variant 4 1.79012566682181e-05 0 0 0 0 0 4 0 0 CACNA1I constrhet 17 T A 1 CACNA1I:17:A:T ENST00000402142;NM_021096.3 22 39966818 rs768632890 G A gnomAD Exomes PASS NA p.Val21Ile p.Val21Ile c.61G>A missense_variant 19 9.33807773212495e-05 0 0 0 0 0 1 0 18 CACNA1I constrhet 21 I V 1 CACNA1I:21:V:I ENST00000402142;NM_021096.3 22 39966825 rs748236821 C T gnomAD Exomes PASS NA p.Thr23Met p.Thr23Met c.68C>T missense_variant 9 4.41912992241972e-05 0 3 0 1 0 1 0 4 CACNA1I constrhet 23 M T 1 CACNA1I:23:T:M ENST00000402142;NM_021096.3 22 39966836 rs771274219 G A gnomAD Exomes PASS NA p.Gly27Arg p.Gly27Arg c.79G>A missense_variant 6 2.93613897724492e-05 1 0 0 1 0 2 0 2 CACNA1I constrhet 27 R G 1 CACNA1I:27:G:R ENST00000402142;NM_021096.3 22 39966842 rs760018532 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg29Trp p.Arg29Trp c.85C>T missense_variant 38 0.000168281579366907 1 0 0 0 0 5 0 32 CACNA1I constrhet 29 W R 1 CACNA1I:29:R:W ENST00000402142;NM_021096.3 22 39966843 rs569004120 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg29Gln p.Arg29Gln c.86G>A missense_variant 7 3.09764667356999e-05 4 0 0 0 0 2 0 1 CACNA1I constrhet 29 Q R 1 CACNA1I:29:R:Q ENST00000402142;NM_021096.3 22 39966861 rs372403873 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro35Leu p.Pro35Leu c.104C>T missense_variant 38 0.000168235387871114 0 0 0 23 0 13 2 0 CACNA1I constrhet 35 L P 1 CACNA1I:35:P:L ENST00000402142;NM_021096.3 22 39966879 rs781264945 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro41His p.Pro41His c.122C>A missense_variant 38 0.000167344853705367 0 20 0 0 0 14 4 0 CACNA1I constrhet 41 H P 1 CACNA1I:41:P:H ENST00000402142;NM_021096.3 22 39966897 rs1456777493 C G gnomAD Exomes PASS NA p.Pro47Arg p.Pro47Arg c.140C>G missense_variant 2 9.70911491708416e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 47 R P 1 CACNA1I:47:P:R ENST00000402142;NM_021096.3 22 39966905 rs769967603 C T gnomAD Exomes PASS NA p.Pro50Ser p.Pro50Ser c.148C>T missense_variant 2 9.70732417609086e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 50 S P 1 CACNA1I:50:P:S ENST00000402142;NM_021096.3 22 39966906 rs548210262 C T gnomAD Exomes PASS NA p.Pro50Leu p.Pro50Leu c.149C>T missense_variant 3 1.45608449172944e-05 0 3 0 0 0 0 0 0 CACNA1I constrhet 50 L P 1 CACNA1I:50:P:L ENST00000402142;NM_021096.3 22 39966945 rs1321696886 G A gnomAD Exomes PASS NA p.Arg63Gln p.Arg63Gln c.188G>A missense_variant 2 9.70741840914827e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 63 Q R 1 CACNA1I:63:R:Q ENST00000402142;NM_021096.3 22 39994228 rs771894093 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp103Glu p.Asp103Glu c.309C>A missense_variant 4 1.82984290798635e-05 0 0 0 0 0 4 0 0 CACNA1I constrhet 103 E D 1 CACNA1I:103:D:E ENST00000402142;NM_021096.3 22 39994250 rs751729397 C G gnomAD Exomes PASS NA p.Arg111Gly p.Arg111Gly c.331C>G missense_variant 4 2.14070878867993e-05 0 0 0 0 0 1 0 3 CACNA1I constrhet 111 G R 1 CACNA1I:111:R:G ENST00000402142;NM_021096.3 22 39994251 rs755363030 G A gnomAD Exomes PASS NA p.Arg111His p.Arg111His c.332G>A missense_variant 2 1.0776442696266e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 111 H R 1 CACNA1I:111:R:H ENST00000402142;NM_021096.3 22 39996534 rs773108844 G A gnomAD Exomes PASS NA p.Asp120Asn p.Asp120Asn c.358G>A missense_variant 6 2.95531562770904e-05 0 6 0 0 0 0 0 0 CACNA1I constrhet 120 N D 1 CACNA1I:120:D:N ENST00000402142;NM_021096.3 22 39996558 rs58395851 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met128Leu p.Met128Leu c.382A>C missense_variant 79 0.000350226982550716 0 2 0 0 0 75 2 0 CACNA1I constrhet 128 L M 1 CACNA1I:128:M:L ENST00000402142;NM_021096.3 22 39996630 rs756481754 C T gnomAD Exomes PASS NA p.Arg152Cys p.Arg152Cys c.454C>T missense_variant 9 4.5588548156703e-05 0 3 0 0 0 5 1 0 CACNA1I constrhet 152 C R 1 CACNA1I:152:R:C ENST00000402142;NM_021096.3 22 39996643 rs1456098790 T C gnomAD Exomes PASS NA p.Phe156Ser p.Phe156Ser c.467T>C missense_variant 2 1.01269924857716e-05 0 0 0 2 0 0 0 0 CACNA1I constrhet 156 S F 1 CACNA1I:156:F:S ENST00000402142;NM_021096.3 22 39996648 rs754359024 G A gnomAD Exomes PASS NA p.Val158Ile p.Val158Ile c.472G>A missense_variant 6 3.04871852198126e-05 0 1 0 0 0 4 0 1 CACNA1I constrhet 158 I V 1 CACNA1I:158:V:I ENST00000402142;NM_021096.3 22 39996654 rs757987337 G A gnomAD Exomes PASS NA p.Ala160Thr p.Ala160Thr c.478G>A missense_variant 2 1.02307023377155e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 160 T A 1 CACNA1I:160:A:T ENST00000402142;NM_021096.3 22 40015364 rs1369098689 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg178Cys p.Arg178Cys c.532C>T missense_variant 3 1.33960865565806e-05 0 1 0 0 0 2 0 0 CACNA1I constrhet 178 C R 1 CACNA1I:178:R:C ENST00000402142;NM_021096.3 22 40015376 rs775581201 G A gnomAD Exomes PASS NA p.Val182Ile p.Val182Ile c.544G>A missense_variant 5 2.4693309100966e-05 0 0 0 0 0 3 1 1 CACNA1I constrhet 182 I V 1 CACNA1I:182:V:I ENST00000402142;NM_021096.3 22 40015406 rs1313739182 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val192Leu p.Val192Leu c.574G>T missense_variant 2 9.01363763373985e-06 2 0 0 0 0 0 0 0 CACNA1I constrhet 192 L V 1 CACNA1I:192:V:L ENST00000402142;NM_021096.3 22 40015406 rs1313739182 G A gnomAD Exomes PASS NA p.Val192Met p.Val192Met c.574G>A missense_variant 3 1.4952302156122e-05 0 1 0 0 0 0 2 0 CACNA1I constrhet 192 M V 1 CACNA1I:192:V:M ENST00000402142;NM_021096.3 22 40030575 rs769038432 C T gnomAD Exomes PASS NA p.Arg196Trp p.Arg196Trp c.586C>T missense_variant 2 9.70449803483915e-06 1 0 0 0 0 0 0 1 CACNA1I constrhet 196 W R 1 CACNA1I:196:R:W ENST00000402142;NM_021096.3 22 40030684 rs61417992 C T gnomAD Exomes PASS NA p.Ala232Val p.Ala232Val c.695C>T missense_variant 2 9.70591089973794e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 232 V A 1 CACNA1I:232:A:V ENST00000402142;NM_021096.3 22 40030710 rs377452504 C A gnomAD Exomes PASS NA p.Leu241Met p.Leu241Met c.721C>A missense_variant 4 1.94210582534642e-05 0 0 0 0 0 4 0 0 CACNA1I constrhet 241 M L 1 CACNA1I:241:L:M ENST00000402142;NM_021096.3 22 40036877 rs748220735 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly249Glu p.Gly249Glu c.746G>A missense_variant 5 2.24545519867788e-05 0 0 0 0 0 5 0 0 CACNA1I constrhet 249 E G 1 CACNA1I:249:G:E ENST00000402142;NM_021096.3 22 40036907 rs749689293 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro259Leu p.Pro259Leu c.776C>T missense_variant 6 2.66224142980113e-05 3 0 0 0 0 3 0 0 CACNA1I constrhet 259 L P 1 CACNA1I:259:P:L ENST00000402142;NM_021096.3 22 40036915 rs368361255 G T gnomAD Exomes PASS NA p.Asp262Tyr p.Asp262Tyr c.784G>T missense_variant 18 8.79541856419678e-05 0 3 12 0 0 2 1 0 CACNA1I constrhet 262 Y D 1 CACNA1I:262:D:Y ENST00000402142;NM_021096.3 22 40036946 rs776190310 C T gnomAD Exomes PASS NA p.Ser272Leu p.Ser272Leu c.815C>T missense_variant 2 9.73122360405597e-06 0 1 0 0 0 0 0 1 CACNA1I constrhet 272 L S 1 CACNA1I:272:S:L ENST00000402142;NM_021096.3 22 40036951 rs772691252 G A gnomAD Exomes PASS NA p.Asp274Asn p.Asp274Asn c.820G>A missense_variant 3 1.45883176752057e-05 0 0 0 0 0 1 0 2 CACNA1I constrhet 274 N D 1 CACNA1I:274:D:N ENST00000402142;NM_021096.3 22 40036985 rs1338767684 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro285Leu p.Pro285Leu c.854C>T missense_variant 5 2.20052988759693e-05 0 2 0 1 0 1 0 1 CACNA1I constrhet 285 L P 1 CACNA1I:285:P:L ENST00000402142;NM_021096.3 22 40037003 rs767554184 G A gnomAD Exomes PASS NA p.Arg291His p.Arg291His c.872G>A missense_variant 8 3.88364596683366e-05 0 5 0 0 0 2 0 1 CACNA1I constrhet 291 H R 1 CACNA1I:291:R:H ENST00000402142;NM_021096.3 22 40037029 rs371850386 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val300Ile p.Val300Ile c.898G>A missense_variant 17 7.47962901040108e-05 8 2 0 0 0 7 0 0 CACNA1I constrhet 300 I V 1 CACNA1I:300:V:I ENST00000402142;NM_021096.3 22 40037035 rs746228837 G A gnomAD Exomes PASS NA p.Asp302Asn p.Asp302Asn c.904G>A missense_variant 6 2.91231033578938e-05 0 6 0 0 0 0 0 0 CACNA1I constrhet 302 N D 1 CACNA1I:302:D:N ENST00000402142;NM_021096.3 22 40037036 rs59635914 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp302Gly p.Asp302Gly c.905A>G missense_variant 320 0.00140785583556244 1 26 67 0 6 134 6 80 CACNA1I constrhet 302 G D 1 CACNA1I:302:D:G ENST00000402142;NM_021096.3 22 40037045 rs775955886 C T gnomAD Exomes PASS NA p.Ala305Val p.Ala305Val c.914C>T missense_variant 13 6.31061834351123e-05 1 5 0 0 0 4 3 0 CACNA1I constrhet 305 V A 1 CACNA1I:305:A:V ENST00000402142;NM_021096.3 22 40037047 rs1008710776 G C gnomAD Exomes PASS NA p.Gly306Arg p.Gly306Arg c.916G>C missense_variant 2 9.70836084035571e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 306 R G 1 CACNA1I:306:G:R ENST00000402142;NM_021096.3 22 40037050 rs772920338 C T gnomAD Exomes PASS NA p.Arg307Cys p.Arg307Cys c.919C>T missense_variant 4 1.94152137615035e-05 0 0 0 3 0 1 0 0 CACNA1I constrhet 307 C R 1 CACNA1I:307:R:C ENST00000402142;NM_021096.3 22 40037051 rs59986512 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg307His p.Arg307His c.920G>A missense_variant 1013 0.00445721426308564 18 17 0 4 207 735 25 7 CACNA1I constrhet 307 H R 1 CACNA1I:307:R:H ENST00000402142;NM_021096.3 22 40037064 rs770599967 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn311Lys p.Asn311Lys c.933T>G missense_variant 3 1.31983000589524e-05 0 0 0 0 2 1 0 0 CACNA1I constrhet 311 K N 1 CACNA1I:311:N:K ENST00000402142;NM_021096.3 22 40037071 rs61607492 G A gnomAD Exomes PASS NA p.Gly314Ser p.Gly314Ser c.940G>A missense_variant 5 2.42673681553888e-05 0 1 0 3 0 1 0 0 CACNA1I constrhet 314 S G 1 CACNA1I:314:G:S ENST00000402142;NM_021096.3 22 40037075 rs760259707 T A gnomAD Exomes PASS NA p.Leu315His p.Leu315His c.944T>A missense_variant 2 9.70647616089455e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 315 H L 1 CACNA1I:315:L:H ENST00000402142;NM_021096.3 22 40037093 rs201536056 G A gnomAD Exomes PASS NA p.Arg321His p.Arg321His c.962G>A missense_variant 2 9.70534570441399e-06 0 1 0 0 0 0 0 1 CACNA1I constrhet 321 H R 1 CACNA1I:321:R:H ENST00000402142;NM_021096.3 22 40037111 rs779077895 G A gnomAD Exomes PASS NA p.Arg327His p.Arg327His c.980G>A missense_variant 2 9.70704148789532e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 327 H R 1 CACNA1I:327:R:H ENST00000402142;NM_021096.3 22 40037114 rs750837338 C T gnomAD Exomes PASS NA p.Thr328Met p.Thr328Met c.983C>T missense_variant 2 9.70722994486293e-06 1 0 0 0 0 1 0 0 CACNA1I constrhet 328 M T 1 CACNA1I:328:T:M ENST00000402142;NM_021096.3 22 40037122 rs747408421 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala331Thr p.Ala331Thr c.991G>A missense_variant 5 2.19977474306631e-05 1 0 0 0 0 2 0 2 CACNA1I constrhet 331 T A 1 CACNA1I:331:A:T ENST00000402142;NM_021096.3 22 40042607 rs529826036 G A gnomAD Exomes PASS NA p.Val395Ile p.Val395Ile c.1183G>A missense_variant 2 1.32112612791143e-05 1 1 0 0 0 0 0 0 CACNA1I constrhet 395 I V 1 CACNA1I:395:V:I ENST00000402142;NM_021096.3 22 40042653 rs759826902 G A gnomAD Exomes PASS NA p.Arg410Gln p.Arg410Gln c.1229G>A missense_variant 4 2.56772371292849e-05 1 0 0 0 0 1 0 2 CACNA1I constrhet 410 Q R 1 CACNA1I:410:R:Q ENST00000402142;NM_021096.3 22 40042670 rs993634651 C T gnomAD Exomes PASS NA p.Arg416Trp p.Arg416Trp c.1246C>T missense_variant 3 1.86685584139193e-05 1 0 0 0 0 1 0 1 CACNA1I constrhet 416 W R 1 CACNA1I:416:R:W ENST00000402142;NM_021096.3 22 40042701 rs1363524374 C T gnomAD Exomes PASS NA p.Ala426Val p.Ala426Val c.1277C>T missense_variant 2 1.13087631605731e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 426 V A 1 CACNA1I:426:A:V ENST00000402142;NM_021096.3 22 40042709 rs779606456 G A gnomAD Exomes PASS NA p.Ala429Thr p.Ala429Thr c.1285G>A missense_variant 4 2.22982841470349e-05 0 2 0 0 0 0 0 2 CACNA1I constrhet 429 T A 1 CACNA1I:429:A:T ENST00000402142;NM_021096.3 22 40042731 rs774453200 A G gnomAD Exomes PASS NA p.Glu436Gly p.Glu436Gly c.1307A>G missense_variant 2 1.09171497505431e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 436 G E 1 CACNA1I:436:E:G ENST00000402142;NM_021096.3 22 40042737 rs201769752 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile438Thr p.Ile438Thr c.1313T>C missense_variant 68 0.000332021522806949 3 2 0 0 0 61 2 0 CACNA1I constrhet 438 T I 1 CACNA1I:438:I:T ENST00000402142;NM_021096.3 22 40042766 rs754359199 A G gnomAD Exomes PASS NA p.Lys448Glu p.Lys448Glu c.1342A>G missense_variant 2 1.15845323324297e-05 0 0 0 0 0 0 0 2 CACNA1I constrhet 448 E K 1 CACNA1I:448:K:E ENST00000402142;NM_021096.3 22 40042779 rs575049762 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg452His p.Arg452His c.1355G>A missense_variant 32 0.000181915341148113 0 0 0 0 30 2 0 0 CACNA1I constrhet 452 H R 1 CACNA1I:452:R:H ENST00000402142;NM_021096.3 22 40042781 rs542075217 G A gnomAD Exomes PASS NA p.Ala453Thr p.Ala453Thr c.1357G>A missense_variant 2 1.30970623289196e-05 0 0 0 1 0 1 0 0 CACNA1I constrhet 453 T A 1 CACNA1I:453:A:T ENST00000402142;NM_021096.3 22 40042782 rs1472275670 C G gnomAD Exomes PASS NA p.Ala453Gly p.Ala453Gly c.1358C>G missense_variant 2 1.31773139363272e-05 0 0 0 0 0 0 0 2 CACNA1I constrhet 453 G A 1 CACNA1I:453:A:G ENST00000402142;NM_021096.3 22 40042788 rs780676438 G A gnomAD Exomes PASS NA p.Gly455Asp p.Gly455Asp c.1364G>A missense_variant 2 1.37356977047649e-05 0 0 0 0 0 0 0 2 CACNA1I constrhet 455 D G 1 CACNA1I:455:G:D ENST00000402142;NM_021096.3 22 40042811 rs764588498 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg463Trp p.Arg463Trp c.1387C>T missense_variant 2 1.36074786702772e-05 1 0 0 0 0 1 0 0 CACNA1I constrhet 463 W R 1 CACNA1I:463:R:W ENST00000402142;NM_021096.3 22 40042812 rs752533365 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg463Gln p.Arg463Gln c.1388G>A missense_variant 8 5.44617814448711e-05 0 1 0 0 0 1 0 6 CACNA1I constrhet 463 Q R 1 CACNA1I:463:R:Q ENST00000402142;NM_021096.3 22 40042814 rs58772485 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg464Cys p.Arg464Cys c.1390C>T missense_variant 17 0.000116417624258694 2 1 0 2 0 9 0 3 CACNA1I constrhet 464 C R 1 CACNA1I:464:R:C ENST00000402142;NM_021096.3 22 40042815 rs183761118 G A gnomAD Exomes PASS NA p.Arg464His p.Arg464His c.1391G>A missense_variant 3 2.42001839213978e-05 0 1 0 1 0 0 1 0 CACNA1I constrhet 464 H R 1 CACNA1I:464:R:H ENST00000402142;NM_021096.3 22 40042820 rs1204968393 G A gnomAD Exomes PASS NA p.Ala466Thr p.Ala466Thr c.1396G>A missense_variant 2 1.63583124764849e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 466 T A 1 CACNA1I:466:A:T ENST00000402142;NM_021096.3 22 40042830 rs749966608 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro469Leu p.Pro469Leu c.1406C>T missense_variant 4 2.87430657353913e-05 1 0 0 0 0 3 0 0 CACNA1I constrhet 469 L P 1 CACNA1I:469:P:L ENST00000402142;NM_021096.3 22 40042839 rs1429861373 C T gnomAD Exomes PASS NA p.Pro472Leu p.Pro472Leu c.1415C>T missense_variant 2 1.76819025727168e-05 0 1 0 0 0 0 0 1 CACNA1I constrhet 472 L P 1 CACNA1I:472:P:L ENST00000402142;NM_021096.3 22 40042842 rs775806524 C T gnomAD Exomes PASS NA p.Ala473Val p.Ala473Val c.1418C>T missense_variant 4 3.53045013239188e-05 0 0 0 0 0 0 0 4 CACNA1I constrhet 473 V A 1 CACNA1I:473:A:V ENST00000402142;NM_021096.3 22 40042865 rs189261923 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala481Thr p.Ala481Thr c.1441G>A missense_variant 2 1.72989430345806e-05 0 1 0 1 0 0 0 0 CACNA1I constrhet 481 T A 1 CACNA1I:481:A:T ENST00000402142;NM_021096.3 22 40042865 rs189261923 G T gnomAD Exomes PASS NA p.Ala481Ser p.Ala481Ser c.1441G>T missense_variant 2 2.11945233351702e-05 1 1 0 0 0 0 0 0 CACNA1I constrhet 481 S A 1 CACNA1I:481:A:S ENST00000402142;NM_021096.3 22 40042877 rs913392305 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg485Trp p.Arg485Trp c.1453C>T missense_variant 9 8.27738434654649e-05 3 4 0 0 0 2 0 0 CACNA1I constrhet 485 W R 1 CACNA1I:485:R:W ENST00000402142;NM_021096.3 22 40042878 rs531582088 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg485Gln p.Arg485Gln c.1454G>A missense_variant 22 0.000202354672553348 1 5 0 0 0 2 0 14 CACNA1I constrhet 485 Q R 1 CACNA1I:485:R:Q ENST00000402142;NM_021096.3 22 40043868 rs576135220 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly502Arg p.Gly502Arg c.1504G>A missense_variant 4 1.77743019142923e-05 0 4 0 0 0 0 0 0 CACNA1I constrhet 502 R G 1 CACNA1I:502:G:R ENST00000402142;NM_021096.3 22 40043874 rs139376782 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg504Trp p.Arg504Trp c.1510C>T missense_variant 58 0.00025773424932678 40 7 0 7 0 1 0 3 CACNA1I constrhet 504 W R 1 CACNA1I:504:R:W ENST00000402142;NM_021096.3 22 40043875 rs376563942 G A gnomAD Exomes PASS NA p.Arg504Gln p.Arg504Gln c.1511G>A missense_variant 3 1.47207474214157e-05 0 0 0 1 0 1 0 1 CACNA1I constrhet 504 Q R 1 CACNA1I:504:R:Q ENST00000402142;NM_021096.3 22 40043877 rs57732048 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.His505Asn p.His505Asn c.1513C>A missense_variant 963 0.00427946744405141 21 121 39 0 28 724 29 1 CACNA1I constrhet 505 N H 1 CACNA1I:505:H:N ENST00000402142;NM_021096.3 22 40043904 rs763709339 T G gnomAD Exomes PASS NA p.Ser514Ala p.Ser514Ala c.1540T>G missense_variant 3 1.47357873331172e-05 0 0 0 3 0 0 0 0 CACNA1I constrhet 514 A S 1 CACNA1I:514:S:A ENST00000402142;NM_021096.3 22 40043911 rs199672933 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly516Glu p.Gly516Glu c.1547G>A missense_variant 23 0.000102316808427346 0 0 0 23 0 0 0 0 CACNA1I constrhet 516 E G 1 CACNA1I:516:G:E ENST00000402142;NM_021096.3 22 40043923 rs34197447 C G gnomAD Exomes PASS NA p.Ser520Trp p.Ser520Trp c.1559C>G missense_variant 2 9.84251968503937e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 520 W S 1 CACNA1I:520:S:W ENST00000402142;NM_021096.3 22 40043923 rs34197447 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser520Leu p.Ser520Leu c.1559C>T missense_variant 374 0.00166638448034647 0 1 0 1 0 11 7 354 CACNA1I constrhet 520 L S 1 CACNA1I:520:S:L ENST00000402142;NM_021096.3 22 40045512 rs770252265 G A gnomAD Exomes PASS NA p.Cys525Tyr p.Cys525Tyr c.1574G>A missense_variant 2 1.41175141881018e-05 0 0 0 0 0 1 0 1 CACNA1I constrhet 525 Y C 1 CACNA1I:525:C:Y ENST00000402142;NM_021096.3 22 40045532 rs1308275131 G A gnomAD Exomes PASS NA p.Asp532Asn p.Asp532Asn c.1594G>A missense_variant 3 2.20442354324344e-05 0 0 0 3 0 0 0 0 CACNA1I constrhet 532 N D 1 CACNA1I:532:D:N ENST00000402142;NM_021096.3 22 40045539 rs779348036 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr534Met p.Thr534Met c.1601C>T missense_variant 19 0.000124510150853877 2 0 0 0 17 0 0 0 CACNA1I constrhet 534 M T 1 CACNA1I:534:T:M ENST00000402142;NM_021096.3 22 40045551 rs368094513 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu538Pro p.Leu538Pro c.1613T>C missense_variant 19 0.000127080100593932 19 0 0 0 0 0 0 0 CACNA1I constrhet 538 P L 1 CACNA1I:538:L:P ENST00000402142;NM_021096.3 22 40045568 rs538823777 G A gnomAD Exomes PASS NA p.Ala544Thr p.Ala544Thr c.1630G>A missense_variant 75 0.000595266441259108 0 2 0 0 0 3 1 69 CACNA1I constrhet 544 T A 1 CACNA1I:544:A:T ENST00000402142;NM_021096.3 22 40045568 rs538823777 G C gnomAD Exomes PASS NA p.Ala544Pro p.Ala544Pro c.1630G>C missense_variant 2 1.58737717669095e-05 0 0 0 2 0 0 0 0 CACNA1I constrhet 544 P A 1 CACNA1I:544:A:P ENST00000402142;NM_021096.3 22 40045572 rs60975716 C T gnomAD Exomes PASS NA p.Thr545Met p.Thr545Met c.1634C>T missense_variant 2 1.59936025589764e-05 0 0 0 1 0 1 0 0 CACNA1I constrhet 545 M T 1 CACNA1I:545:T:M ENST00000402142;NM_021096.3 22 40045583 rs60617531 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp549Asn p.Asp549Asn c.1645G>A missense_variant 9 6.26915575369184e-05 4 0 0 0 0 3 1 1 CACNA1I constrhet 549 N D 1 CACNA1I:549:D:N ENST00000402142;NM_021096.3 22 40045589 rs368239983 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala551Ser p.Ala551Ser c.1651G>T missense_variant 7 4.90292214159639e-05 0 0 0 0 1 6 0 0 CACNA1I constrhet 551 S A 1 CACNA1I:551:A:S ENST00000402142;NM_021096.3 22 40045589 rs368239983 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala551Thr p.Ala551Thr c.1651G>A missense_variant 4 2.80166979519794e-05 0 0 0 0 0 3 0 1 CACNA1I constrhet 551 T A 1 CACNA1I:551:A:T ENST00000402142;NM_021096.3 22 40045611 rs757582109 A G gnomAD Exomes PASS NA p.His558Arg p.His558Arg c.1673A>G missense_variant 5 4.29952189316548e-05 0 0 0 0 0 0 0 5 CACNA1I constrhet 558 R H 1 CACNA1I:558:H:R ENST00000402142;NM_021096.3 22 40045619 rs1411404461 G A gnomAD Exomes PASS NA p.Gly561Ser p.Gly561Ser c.1681G>A missense_variant 3 2.69483669289641e-05 2 0 0 0 0 1 0 0 CACNA1I constrhet 561 S G 1 CACNA1I:561:G:S ENST00000402142;NM_021096.3 22 40045622 rs746316764 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg562Trp p.Arg562Trp c.1684C>T missense_variant 2 1.53758629703092e-05 0 1 0 1 0 0 0 0 CACNA1I constrhet 562 W R 1 CACNA1I:562:R:W ENST00000402142;NM_021096.3 22 40045623 rs772620772 G A gnomAD Exomes PASS NA p.Arg562Gln p.Arg562Gln c.1685G>A missense_variant 3 2.75330396475771e-05 0 1 0 0 0 0 0 2 CACNA1I constrhet 562 Q R 1 CACNA1I:562:R:Q ENST00000402142;NM_021096.3 22 40045626 rs780635482 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg563Gln p.Arg563Gln c.1688G>A missense_variant 2 1.54049973811504e-05 1 0 0 0 0 0 0 1 CACNA1I constrhet 563 Q R 1 CACNA1I:563:R:Q ENST00000402142;NM_021096.3 22 40045649 rs762867080 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp571Asn p.Asp571Asn c.1711G>A missense_variant 17 0.000134899222345659 0 0 0 16 0 1 0 0 CACNA1I constrhet 571 N D 1 CACNA1I:571:D:N ENST00000402142;NM_021096.3 22 40045653 rs372904212 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser572Leu p.Ser572Leu c.1715C>T missense_variant 10 7.91377154524303e-05 0 4 0 0 0 6 0 0 CACNA1I constrhet 572 L S 1 CACNA1I:572:S:L ENST00000402142;NM_021096.3 22 40045667 rs1414031920 T C gnomAD Exomes PASS NA p.Ser577Pro p.Ser577Pro c.1729T>C missense_variant 2 1.95266734359135e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 577 P S 1 CACNA1I:577:S:P ENST00000402142;NM_021096.3 22 40045676 rs377388542 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly580Arg p.Gly580Arg c.1738G>A missense_variant 25 0.00020270160701834 0 23 0 0 0 0 1 1 CACNA1I constrhet 580 R G 1 CACNA1I:580:G:R ENST00000402142;NM_021096.3 22 40045685 rs56859827 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala583Thr p.Ala583Thr c.1747G>A missense_variant 217 0.00174350404139416 10 74 28 0 1 83 20 1 CACNA1I constrhet 583 T A 1 CACNA1I:583:A:T ENST00000402142;NM_021096.3 22 40045700 rs750784450 G A gnomAD Exomes PASS NA p.Glu588Lys p.Glu588Lys c.1762G>A missense_variant 2 1.86257892678202e-05 0 0 0 0 1 0 0 1 CACNA1I constrhet 588 K E 1 CACNA1I:588:E:K ENST00000402142;NM_021096.3 22 40045704 rs763879468 C T gnomAD Exomes PASS NA p.Ala589Val p.Ala589Val c.1766C>T missense_variant 5 4.63821892393321e-05 0 0 0 0 0 5 0 0 CACNA1I constrhet 589 V A 1 CACNA1I:589:A:V ENST00000402142;NM_021096.3 22 40045710 rs1044839610 G A gnomAD Exomes PASS NA p.Gly591Glu p.Gly591Glu c.1772G>A missense_variant 5 4.47435300855496e-05 0 2 0 0 0 1 2 0 CACNA1I constrhet 591 E G 1 CACNA1I:591:G:E ENST00000402142;NM_021096.3 22 40045715 rs755606094 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly593Arg p.Gly593Arg c.1777G>A missense_variant 5 3.69172610345693e-05 0 0 0 0 1 4 0 0 CACNA1I constrhet 593 R G 1 CACNA1I:593:G:R ENST00000402142;NM_021096.3 22 40045718 rs59010602 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala594Ser p.Ala594Ser c.1780G>T missense_variant 59 0.000427424729780637 51 7 0 0 0 0 1 0 CACNA1I constrhet 594 S A 1 CACNA1I:594:A:S ENST00000402142;NM_021096.3 22 40045721 rs770692421 C T gnomAD Exomes PASS NA p.Arg595Trp p.Arg595Trp c.1783C>T missense_variant 3 2.49613099695472e-05 0 1 0 0 0 2 0 0 CACNA1I constrhet 595 W R 1 CACNA1I:595:R:W ENST00000402142;NM_021096.3 22 40045722 rs375727237 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg595Gln p.Arg595Gln c.1784G>A missense_variant 24 0.000168048397938606 5 1 0 0 0 18 0 0 CACNA1I constrhet 595 Q R 1 CACNA1I:595:R:Q ENST00000402142;NM_021096.3 22 40045725 rs745655920 G A gnomAD Exomes PASS NA p.Ser596Asn p.Ser596Asn c.1787G>A missense_variant 3 2.39700853335038e-05 0 0 0 0 0 1 0 2 CACNA1I constrhet 596 N S 1 CACNA1I:596:S:N ENST00000402142;NM_021096.3 22 40045727 rs369347360 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser597Arg p.Ser597Arg c.1789A>C missense_variant 6 4.02063928164578e-05 0 5 0 0 0 1 0 0 CACNA1I constrhet 597 R S 1 CACNA1I:597:S:R ENST00000402142;NM_021096.3 22 40045730 rs372829650 G A gnomAD Exomes PASS NA p.Glu598Lys p.Glu598Lys c.1792G>A missense_variant 4 2.98868781661412e-05 2 1 0 0 0 1 0 0 CACNA1I constrhet 598 K E 1 CACNA1I:598:E:K ENST00000402142;NM_021096.3 22 40045736 rs764180954 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly600Arg p.Gly600Arg c.1798G>A missense_variant 4 2.41438004756329e-05 1 0 0 0 0 2 0 1 CACNA1I constrhet 600 R G 1 CACNA1I:600:G:R ENST00000402142;NM_021096.3 22 40045782 rs752033947 C T gnomAD Exomes PASS NA p.Ala615Val p.Ala615Val c.1844C>T missense_variant 2 1.02938905759432e-05 0 2 0 0 0 0 0 0 CACNA1I constrhet 615 V A 1 CACNA1I:615:A:V ENST00000402142;NM_021096.3 22 40045782 rs752033947 C A gnomAD Exomes PASS NA p.Ala615Glu p.Ala615Glu c.1844C>A missense_variant 2 1.02938905759432e-05 0 0 0 0 0 0 0 2 CACNA1I constrhet 615 E A 1 CACNA1I:615:A:E ENST00000402142;NM_021096.3 22 40045784 rs376280976 G T gnomAD Exomes PASS NA p.Asp616Tyr p.Asp616Tyr c.1846G>T missense_variant 7 3.54061080594418e-05 0 0 0 0 0 7 0 0 CACNA1I constrhet 616 Y D 1 CACNA1I:616:D:Y ENST00000402142;NM_021096.3 22 40045784 rs376280976 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp616His p.Asp616His c.1846G>C missense_variant 45 0.000205530130717163 0 2 0 23 0 8 5 7 CACNA1I constrhet 616 H D 1 CACNA1I:616:D:H ENST00000402142;NM_021096.3 22 40045791 rs757008650 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala618Val p.Ala618Val c.1853C>T missense_variant 23 0.000104534050830818 1 2 0 19 0 0 0 1 CACNA1I constrhet 618 V A 1 CACNA1I:618:A:V ENST00000402142;NM_021096.3 22 40045791 rs757008650 C A gnomAD Exomes PASS NA p.Ala618Glu p.Ala618Glu c.1853C>A missense_variant 2 1.00602609631694e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 618 E A 1 CACNA1I:618:A:E ENST00000402142;NM_021096.3 22 40045805 rs548990169 G A gnomAD Exomes PASS NA p.Gly623Arg p.Gly623Arg c.1867G>A missense_variant 3 1.48095491973224e-05 0 0 0 0 0 1 1 1 CACNA1I constrhet 623 R G 1 CACNA1I:623:G:R ENST00000402142;NM_021096.3 22 40045805 rs548990169 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly623Arg p.Gly623Arg c.1867G>C missense_variant 5 2.23401783639841e-05 0 0 0 0 0 0 1 4 CACNA1I constrhet 623 R G 1 CACNA1I:623:G:R ENST00000402142;NM_021096.3 22 40045817 rs567197463 C T gnomAD Exomes PASS NA p.Arg627Trp p.Arg627Trp c.1879C>T missense_variant 2 9.96889704123136e-06 1 0 0 0 0 1 0 0 CACNA1I constrhet 627 W R 1 CACNA1I:627:R:W ENST00000402142;NM_021096.3 22 40045818 rs376968152 G A gnomAD Exomes PASS NA p.Arg627Gln p.Arg627Gln c.1880G>A missense_variant 15 7.44993642720915e-05 4 4 0 0 0 7 0 0 CACNA1I constrhet 627 Q R 1 CACNA1I:627:R:Q ENST00000402142;NM_021096.3 22 40045824 rs552710262 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr629Met p.Thr629Met c.1886C>T missense_variant 33 0.000148246646481164 1 20 1 0 0 2 2 7 CACNA1I constrhet 629 M T 1 CACNA1I:629:T:M ENST00000402142;NM_021096.3 22 40045827 rs1189335226 G A gnomAD Exomes PASS NA p.Arg630Gln p.Arg630Gln c.1889G>A missense_variant 2 9.83613007298408e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 630 Q R 1 CACNA1I:630:R:Q ENST00000402142;NM_021096.3 22 40045838 rs760155220 C T gnomAD Exomes PASS NA p.Arg634Cys p.Arg634Cys c.1900C>T missense_variant segdup 2 9.77297381820314e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 634 C R 1 CACNA1I:634:R:C ENST00000402142;NM_021096.3 22 40045839 rs768104592 G A gnomAD Exomes PASS NA p.Arg634His p.Arg634His c.1901G>A missense_variant segdup 2 9.76648338232852e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 634 H R 1 CACNA1I:634:R:H ENST00000402142;NM_021096.3 22 40045841 rs199932036 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly635Ser p.Gly635Ser c.1903G>A missense_variant segdup 8 3.53760026885762e-05 1 0 0 2 0 3 0 2 CACNA1I constrhet 635 S G 1 CACNA1I:635:G:S ENST00000402142;NM_021096.3 22 40045841 rs199932036 G C gnomAD Exomes PASS NA p.Gly635Arg p.Gly635Arg c.1903G>C missense_variant segdup 2 9.75990630489947e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 635 R G 1 CACNA1I:635:G:R ENST00000402142;NM_021096.3 22 40045868 rs556959037 C T gnomAD Exomes PASS NA p.Arg644Trp p.Arg644Trp c.1930C>T missense_variant segdup 3 1.45928592275513e-05 1 0 0 0 0 0 0 2 CACNA1I constrhet 644 W R 1 CACNA1I:644:R:W ENST00000402142;NM_021096.3 22 40045869 rs370752672 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg644Gln p.Arg644Gln c.1931G>A missense_variant segdup 24 0.000105826638328645 4 11 0 1 0 0 0 8 CACNA1I constrhet 644 Q R 1 CACNA1I:644:R:Q ENST00000402142;NM_021096.3 22 40045874 rs748256097 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile646Val p.Ile646Val c.1936A>G missense_variant segdup 6 2.64498950820828e-05 1 0 0 5 0 0 0 0 CACNA1I constrhet 646 V I 1 CACNA1I:646:I:V ENST00000402142;NM_021096.3 22 40045879 rs1242357919 G C gnomAD Exomes PASS NA p.Met647Ile p.Met647Ile c.1941G>C missense_variant segdup 5 2.43152816682228e-05 0 0 0 4 0 1 0 0 CACNA1I constrhet 647 I M 1 CACNA1I:647:M:I ENST00000402142;NM_021096.3 22 40045925 rs768172049 G A gnomAD Exomes PASS NA p.Glu663Lys p.Glu663Lys c.1987G>A missense_variant segdup 2 9.76619723811942e-06 0 1 0 0 0 1 0 0 CACNA1I constrhet 663 K E 1 CACNA1I:663:E:K ENST00000402142;NM_021096.3 22 40054158 rs760533645 C T gnomAD Exomes PASS NA p.Pro665Leu p.Pro665Leu c.1994C>T missense_variant segdup 4 1.94269062651773e-05 0 0 0 2 0 0 0 2 CACNA1I constrhet 665 L P 1 CACNA1I:665:P:L ENST00000402142;NM_021096.3 22 40054166 rs763854326 C A gnomAD Exomes PASS NA p.Leu668Met p.Leu668Met c.2002C>A missense_variant segdup 2 9.70949199937859e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 668 M L 1 CACNA1I:668:L:M ENST00000402142;NM_021096.3 22 40054185 rs750557032 T A gnomAD Exomes PASS NA p.Ile674Asn p.Ile674Asn c.2021T>A missense_variant segdup 2 9.70515732060017e-06 2 0 0 0 0 0 0 0 CACNA1I constrhet 674 N I 1 CACNA1I:674:I:N ENST00000402142;NM_021096.3 22 40054208 rs1235592404 A G gnomAD Exomes PASS NA p.Met682Val p.Met682Val c.2044A>G missense_variant segdup 6 2.91140591791776e-05 0 0 0 0 0 6 0 0 CACNA1I constrhet 682 V M 1 CACNA1I:682:M:V ENST00000402142;NM_021096.3 22 40054210 rs780424507 G A gnomAD Exomes PASS NA p.Met682Ile p.Met682Ile c.2046G>A missense_variant segdup 4 1.94103146412003e-05 0 4 0 0 0 0 0 0 CACNA1I constrhet 682 I M 1 CACNA1I:682:M:I ENST00000402142;NM_021096.3 22 40054215 rs751671524 C T gnomAD Exomes PASS NA p.Ala684Val p.Ala684Val c.2051C>T missense_variant segdup 2 9.70543989906343e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 684 V A 1 CACNA1I:684:A:V ENST00000402142;NM_021096.3 22 40054266 rs374981824 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg701His p.Arg701His c.2102G>A missense_variant 7 3.08074184263571e-05 0 2 0 0 0 1 0 4 CACNA1I constrhet 701 H R 1 CACNA1I:701:R:H ENST00000402142;NM_021096.3 22 40054304 rs780522354 A G gnomAD Exomes PASS NA p.Ile714Val p.Ile714Val c.2140A>G missense_variant 4 1.94770414374057e-05 0 0 0 0 0 4 0 0 CACNA1I constrhet 714 V I 1 CACNA1I:714:I:V ENST00000402142;NM_021096.3 22 40054949 rs1393241504 G A gnomAD Exomes PASS NA p.Val720Met p.Val720Met c.2158G>A missense_variant segdup 2 1.07864392885265e-05 0 0 0 0 0 0 0 2 CACNA1I constrhet 720 M V 1 CACNA1I:720:V:M ENST00000402142;NM_021096.3 22 40054959 rs756317268 C T gnomAD Exomes PASS NA p.Ala723Val p.Ala723Val c.2168C>T missense_variant segdup 4 2.13839705756565e-05 0 0 0 0 0 1 0 3 CACNA1I constrhet 723 V A 1 CACNA1I:723:A:V ENST00000402142;NM_021096.3 22 40054964 rs1209536375 G A gnomAD Exomes PASS NA p.Gly725Ser p.Gly725Ser c.2173G>A missense_variant segdup 2 1.05053051791155e-05 0 0 0 1 0 1 0 0 CACNA1I constrhet 725 S G 1 CACNA1I:725:G:S ENST00000402142;NM_021096.3 22 40055075 rs370614164 G A gnomAD Exomes PASS NA p.Val762Met p.Val762Met c.2284G>A missense_variant segdup 3 1.46558799390315e-05 0 2 0 0 0 1 0 0 CACNA1I constrhet 762 M V 1 CACNA1I:762:V:M ENST00000402142;NM_021096.3 22 40055472 rs771874496 A T gnomAD Exomes PASS NA p.Ser789Cys p.Ser789Cys c.2365A>T missense_variant segdup 2 1.2640626975098e-05 0 2 0 0 0 0 0 0 CACNA1I constrhet 789 C S 1 CACNA1I:789:S:C ENST00000402142;NM_021096.3 22 40055479 rs557580252 G A gnomAD Exomes PASS NA p.Arg791His p.Arg791His c.2372G>A missense_variant segdup 4 2.44510734021224e-05 1 2 0 0 0 1 0 0 CACNA1I constrhet 791 H R 1 CACNA1I:791:R:H ENST00000402142;NM_021096.3 22 40055505 rs574037007 G A gnomAD Exomes PASS NA p.Asp800Asn p.Asp800Asn c.2398G>A missense_variant segdup 13 7.21981561701655e-05 1 0 0 3 0 0 0 9 CACNA1I constrhet 800 N D 1 CACNA1I:800:D:N ENST00000402142;NM_021096.3 22 40055520 rs755643922 G A gnomAD Exomes PASS NA p.Asp805Asn p.Asp805Asn c.2413G>A missense_variant segdup 2 1.07057211373758e-05 0 0 0 0 0 1 0 1 CACNA1I constrhet 805 N D 1 CACNA1I:805:D:N ENST00000402142;NM_021096.3 22 40055541 rs748634146 G A gnomAD Exomes PASS NA p.Val812Ile p.Val812Ile c.2434G>A missense_variant segdup 6 3.08005051282841e-05 1 0 0 0 0 2 0 3 CACNA1I constrhet 812 I V 1 CACNA1I:812:V:I ENST00000402142;NM_021096.3 22 40055726 rs199827082 G A gnomAD Exomes PASS NA p.Val825Ile p.Val825Ile c.2473G>A missense_variant segdup 12 5.82360306321521e-05 0 4 0 1 1 4 2 0 CACNA1I constrhet 825 I V 1 CACNA1I:825:V:I ENST00000402142;NM_021096.3 22 40055733 rs776228273 T G gnomAD Exomes PASS NA p.Leu827Arg p.Leu827Arg c.2480T>G missense_variant segdup 3 1.45584424407714e-05 0 3 0 0 0 0 0 0 CACNA1I constrhet 827 R L 1 CACNA1I:827:L:R ENST00000402142;NM_021096.3 22 40056362 rs770598577 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg873His p.Arg873His c.2618G>A missense_variant 12 5.31933756516189e-05 0 2 0 0 0 10 0 0 CACNA1I constrhet 873 H R 1 CACNA1I:873:R:H ENST00000402142;NM_021096.3 22 40056364 rs773922976 T A gnomAD Exomes PASS NA p.Ser874Thr p.Ser874Thr c.2620T>A missense_variant 2 9.77918598055898e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 874 T S 1 CACNA1I:874:S:T ENST00000402142;NM_021096.3 22 40056371 rs60867664 C T gnomAD Exomes PASS NA p.Ser876Leu p.Ser876Leu c.2627C>T missense_variant 2 9.77851659903193e-06 1 0 0 1 0 0 0 0 CACNA1I constrhet 876 L S 1 CACNA1I:876:S:L ENST00000402142;NM_021096.3 22 40056379 rs752532645 G A gnomAD Exomes PASS NA p.Asp879Asn p.Asp879Asn c.2635G>A missense_variant 3 1.46537323056182e-05 0 1 0 0 0 1 0 1 CACNA1I constrhet 879 N D 1 CACNA1I:879:D:N ENST00000402142;NM_021096.3 22 40056384 rs760569453 G C gnomAD Exomes PASS NA p.Gln880His p.Gln880His c.2640G>C missense_variant 2 9.76781894370806e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 880 H Q 1 CACNA1I:880:Q:H ENST00000402142;NM_021096.3 22 40056389 rs1206084619 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser882Leu p.Ser882Leu c.2645C>T missense_variant 2 8.85065406333528e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 882 L S 1 CACNA1I:882:S:L ENST00000402142;NM_021096.3 22 40056397 rs757340954 A G gnomAD Exomes PASS NA p.Ile885Val p.Ile885Val c.2653A>G missense_variant 2 9.77068209131679e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 885 V I 1 CACNA1I:885:I:V ENST00000402142;NM_021096.3 22 40056398 rs779293821 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile885Arg p.Ile885Arg c.2654T>G missense_variant 5 2.21397639015578e-05 5 0 0 0 0 0 0 0 CACNA1I constrhet 885 R I 1 CACNA1I:885:I:R ENST00000402142;NM_021096.3 22 40056401 rs758692132 A G gnomAD Exomes PASS NA p.Glu886Gly p.Glu886Gly c.2657A>G missense_variant 2 9.77679575295993e-06 0 0 0 0 0 1 0 1 CACNA1I constrhet 886 G E 1 CACNA1I:886:E:G ENST00000402142;NM_021096.3 22 40056439 rs201154154 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly899Arg p.Gly899Arg c.2695G>A missense_variant 85 0.000381634833831704 75 9 0 0 0 1 0 0 CACNA1I constrhet 899 R G 1 CACNA1I:899:G:R ENST00000402142;NM_021096.3 22 40057127 rs183054716 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro905Ser p.Pro905Ser c.2713C>T missense_variant 53 0.000236554340548985 0 0 0 50 0 0 2 1 CACNA1I constrhet 905 S P 1 CACNA1I:905:P:S ENST00000402142;NM_021096.3 22 40057146 rs748710003 A G gnomAD Exomes PASS NA p.Asn911Ser p.Asn911Ser c.2732A>G missense_variant 3 1.4757098164217e-05 1 1 0 0 0 1 0 0 CACNA1I constrhet 911 S N 1 CACNA1I:911:N:S ENST00000402142;NM_021096.3 22 40057164 rs745359142 G A gnomAD Exomes PASS NA p.Ser917Asn p.Ser917Asn c.2750G>A missense_variant 2 9.82955550749995e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 917 N S 1 CACNA1I:917:S:N ENST00000402142;NM_021096.3 22 40057178 rs771654024 G A gnomAD Exomes PASS NA p.Gly922Arg p.Gly922Arg c.2764G>A missense_variant 2 9.8360333244809e-06 0 0 2 0 0 0 0 0 CACNA1I constrhet 922 R G 1 CACNA1I:922:G:R ENST00000402142;NM_021096.3 22 40057188 rs746795229 G A gnomAD Exomes PASS NA p.Gly925Asp p.Gly925Asp c.2774G>A missense_variant 2 9.82694745531196e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 925 D G 1 CACNA1I:925:G:D ENST00000402142;NM_021096.3 22 40057193 rs1172889974 G C gnomAD Exomes PASS NA p.Ala927Pro p.Ala927Pro c.2779G>C missense_variant 2 9.83806544281133e-06 0 0 0 0 0 0 1 1 CACNA1I constrhet 927 P A 1 CACNA1I:927:A:P ENST00000402142;NM_021096.3 22 40057199 rs776566127 G T gnomAD Exomes PASS NA p.Ala929Ser p.Ala929Ser c.2785G>T missense_variant 2 9.8418416054012e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 929 S A 1 CACNA1I:929:A:S ENST00000402142;NM_021096.3 22 40057199 rs776566127 G A gnomAD Exomes PASS NA p.Ala929Thr p.Ala929Thr c.2785G>A missense_variant 2 9.8418416054012e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 929 T A 1 CACNA1I:929:A:T ENST00000402142;NM_021096.3 22 40057212 rs751744214 C T gnomAD Exomes PASS NA p.Ala933Val p.Ala933Val c.2798C>T missense_variant 4 1.97281461461067e-05 0 0 0 0 0 0 0 4 CACNA1I constrhet 933 V A 1 CACNA1I:933:A:V ENST00000402142;NM_021096.3 22 40057218 rs753028007 G A gnomAD Exomes PASS NA p.Arg935Gln p.Arg935Gln c.2804G>A missense_variant 4 1.96641365477642e-05 0 2 0 0 0 2 0 0 CACNA1I constrhet 935 Q R 1 CACNA1I:935:R:Q ENST00000402142;NM_021096.3 22 40057220 rs372408370 C T gnomAD Exomes PASS NA p.Leu936Phe p.Leu936Phe c.2806C>T missense_variant 3 1.47298544690378e-05 3 0 0 0 0 0 0 0 CACNA1I constrhet 936 F L 1 CACNA1I:936:L:F ENST00000402142;NM_021096.3 22 40057233 rs376992678 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro940Leu p.Pro940Leu c.2819C>T missense_variant 22 9.78160347158e-05 0 0 0 0 0 2 3 17 CACNA1I constrhet 940 L P 1 CACNA1I:940:P:L ENST00000402142;NM_021096.3 22 40057244 rs768394828 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu944Met p.Leu944Met c.2830C>A missense_variant 7 3.11817898347365e-05 0 0 0 0 0 5 2 0 CACNA1I constrhet 944 M L 1 CACNA1I:944:L:M ENST00000402142;NM_021096.3 22 40057263 rs370082731 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg950Gln p.Arg950Gln c.2849G>A missense_variant 8 3.59205079159819e-05 1 1 0 0 0 5 0 1 CACNA1I constrhet 950 Q R 1 CACNA1I:950:R:Q ENST00000402142;NM_021096.3 22 40057278 rs912148861 T C gnomAD Exomes PASS NA p.Met955Thr p.Met955Thr c.2864T>C missense_variant 4 2.01842824992179e-05 0 4 0 0 0 0 0 0 CACNA1I constrhet 955 T M 1 CACNA1I:955:M:T ENST00000402142;NM_021096.3 22 40057290 rs199552874 G A gnomAD Exomes PASS NA p.Arg959Lys p.Arg959Lys c.2876G>A missense_variant 5 2.6740255850768e-05 0 1 0 0 0 3 1 0 CACNA1I constrhet 959 K R 1 CACNA1I:959:R:K ENST00000402142;NM_021096.3 22 40057308 rs566666546 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg965His p.Arg965His c.2894G>A missense_variant 12 6.29749359754818e-05 1 0 0 0 0 11 0 0 CACNA1I constrhet 965 H R 1 CACNA1I:965:R:H ENST00000402142;NM_021096.3 22 40057977 rs774539833 C G gnomAD Exomes PASS NA p.Ser970Cys p.Ser970Cys c.2909C>G missense_variant 2 1.711537474113e-05 0 1 0 0 0 0 0 1 CACNA1I constrhet 970 C S 1 CACNA1I:970:S:C ENST00000402142;NM_021096.3 22 40058036 rs754119440 A G gnomAD Exomes PASS NA p.Ser990Gly p.Ser990Gly c.2968A>G missense_variant 2 1.42332545759913e-05 0 0 0 2 0 0 0 0 CACNA1I constrhet 990 G S 1 CACNA1I:990:S:G ENST00000402142;NM_021096.3 22 40058100 rs1321419838 G A gnomAD Exomes PASS NA p.Arg1011His p.Arg1011His c.3032G>A missense_variant 3 3.00546995531868e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1011 H R 1 CACNA1I:1011:R:H ENST00000402142;NM_021096.3 22 40058105 rs752458532 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1013Cys p.Gly1013Cys c.3037G>T missense_variant 5 4.1076533797772e-05 0 0 0 0 1 4 0 0 CACNA1I constrhet 1013 C G 1 CACNA1I:1013:G:C ENST00000402142;NM_021096.3 22 40058105 rs752458532 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1013Ser p.Gly1013Ser c.3037G>A missense_variant 5 4.1076533797772e-05 0 2 0 0 1 0 0 2 CACNA1I constrhet 1013 S G 1 CACNA1I:1013:G:S ENST00000402142;NM_021096.3 22 40058111 rs777665583 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1015Ser p.Ala1015Ser c.3043G>T missense_variant 3 2.44841995299034e-05 1 0 0 0 0 2 0 0 CACNA1I constrhet 1015 S A 1 CACNA1I:1015:A:S ENST00000402142;NM_021096.3 22 40058111 rs777665583 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1015Pro p.Ala1015Pro c.3043G>C missense_variant 11 8.97753982763123e-05 0 1 0 0 1 8 1 0 CACNA1I constrhet 1015 P A 1 CACNA1I:1015:A:P ENST00000402142;NM_021096.3 22 40058114 rs749016977 C T gnomAD Exomes PASS NA p.Arg1016Trp p.Arg1016Trp c.3046C>T missense_variant 3 2.93749020836597e-05 1 0 0 0 0 2 0 0 CACNA1I constrhet 1016 W R 1 CACNA1I:1016:R:W ENST00000402142;NM_021096.3 22 40058132 rs772197167 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1022Ser p.Ala1022Ser c.3064G>T missense_variant 3 2.44124731462795e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1022 S A 1 CACNA1I:1022:A:S ENST00000402142;NM_021096.3 22 40058145 rs57299573 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1026Leu p.Pro1026Leu c.3077C>T missense_variant 506 0.00414999015812611 6 50 38 0 21 325 21 45 CACNA1I constrhet 1026 L P 1 CACNA1I:1026:P:L ENST00000402142;NM_021096.3 22 40058147 rs1282648091 C T gnomAD Exomes PASS NA p.Pro1027Ser p.Pro1027Ser c.3079C>T missense_variant 2 1.96978352079106e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 1027 S P 1 CACNA1I:1027:P:S ENST00000402142;NM_021096.3 22 40058151 rs747270511 G A gnomAD Exomes PASS NA p.Arg1028Gln p.Arg1028Gln c.3083G>A missense_variant 2 1.94882388478553e-05 0 0 0 0 0 1 0 1 CACNA1I constrhet 1028 Q R 1 CACNA1I:1028:R:Q ENST00000402142;NM_021096.3 22 40058154 rs1215241270 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1029Val p.Ala1029Val c.3086C>T missense_variant 3 2.39884855269471e-05 0 0 0 0 0 2 1 0 CACNA1I constrhet 1029 V A 1 CACNA1I:1029:A:V ENST00000402142;NM_021096.3 22 40058186 rs136853 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1040Val p.Ile1040Val c.3118A>G missense_variant 78014 0.622667411605076 5059 16108 2647 6709 5736 28200 2344 11211 CACNA1I constrhet 1040 V I 1 CACNA1I:1040:I:V ENST00000402142;NM_021096.3 22 40058229 rs1173030054 G T gnomAD Exomes PASS NA p.Arg1054Leu p.Arg1054Leu c.3161G>T missense_variant 2 1.93307687846746e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 1054 L R 1 CACNA1I:1054:R:L ENST00000402142;NM_021096.3 22 40058330 rs758299547 G A gnomAD Exomes PASS NA p.Ala1088Thr p.Ala1088Thr c.3262G>A missense_variant 3 5.1327675882836e-05 0 0 0 0 0 0 0 3 CACNA1I constrhet 1088 T A 1 CACNA1I:1088:A:T ENST00000402142;NM_021096.3 22 40058334 rs1401275484 C G gnomAD Exomes PASS NA p.Pro1089Arg p.Pro1089Arg c.3266C>G missense_variant 2 3.35188040490715e-05 0 2 0 0 0 0 0 0 CACNA1I constrhet 1089 R P 1 CACNA1I:1089:P:R ENST00000402142;NM_021096.3 22 40058372 rs57288507 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1102Thr p.Ala1102Thr c.3304G>A missense_variant 12 0.00013485873547459 0 0 8 0 0 2 0 2 CACNA1I constrhet 1102 T A 1 CACNA1I:1102:A:T ENST00000402142;NM_021096.3 22 40058393 rs58021347 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1109Leu p.Met1109Leu c.3325A>T missense_variant 251 0.00304397390186519 5 15 0 0 6 218 7 0 CACNA1I constrhet 1109 L M 1 CACNA1I:1109:M:L ENST00000402142;NM_021096.3 22 40058397 rs770118931 G A gnomAD Exomes PASS NA p.Gly1110Asp p.Gly1110Asp c.3329G>A missense_variant 4 6.89940665102801e-05 0 0 0 0 0 0 0 4 CACNA1I constrhet 1110 D G 1 CACNA1I:1110:G:D ENST00000402142;NM_021096.3 22 40058408 rs773710948 G T gnomAD Exomes PASS NA p.Asp1114Tyr p.Asp1114Tyr c.3340G>T missense_variant 3 5.87222048230504e-05 0 0 0 0 0 0 0 3 CACNA1I constrhet 1114 Y D 1 CACNA1I:1114:D:Y ENST00000402142;NM_021096.3 22 40058412 rs758189989 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1115His p.Arg1115His c.3344G>A missense_variant 7 9.86137721176603e-05 1 0 0 0 0 5 1 0 CACNA1I constrhet 1115 H R 1 CACNA1I:1115:R:H ENST00000402142;NM_021096.3 22 40058414 rs778113055 G A gnomAD Exomes PASS NA p.Gly1116Arg p.Gly1116Arg c.3346G>A missense_variant 3 6.17741536940944e-05 0 0 0 0 0 0 0 3 CACNA1I constrhet 1116 R G 1 CACNA1I:1116:G:R ENST00000402142;NM_021096.3 22 40058414 rs778113055 G C gnomAD Genomes NA PASS p.Gly1116Arg p.Gly1116Arg c.3346G>C missense_variant 2 9.43663300934227e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 1116 R G 1 CACNA1I:1116:G:R ENST00000402142;NM_021096.3 22 40058788 rs1238095305 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys1127Tyr p.Cys1127Tyr c.3380G>A missense_variant 2 1.0352395544329e-05 0 1 0 0 0 1 0 0 CACNA1I constrhet 1127 Y C 1 CACNA1I:1127:C:Y ENST00000402142;NM_021096.3 22 40058800 rs373551286 G T gnomAD Exomes PASS NA p.Arg1131Leu p.Arg1131Leu c.3392G>T missense_variant 3 1.64262952133776e-05 3 0 0 0 0 0 0 0 CACNA1I constrhet 1131 L R 1 CACNA1I:1131:R:L ENST00000402142;NM_021096.3 22 40059745 rs762578388 A G gnomAD Exomes PASS NA p.Ile1166Val p.Ile1166Val c.3496A>G missense_variant 16 7.77718368735722e-05 0 0 0 0 0 15 1 0 CACNA1I constrhet 1166 V I 1 CACNA1I:1166:I:V ENST00000402142;NM_021096.3 22 40059767 rs756199077 A G gnomAD Exomes PASS NA p.Asp1173Gly p.Asp1173Gly c.3518A>G missense_variant segdup 2 9.71307574256464e-06 0 2 0 0 0 0 0 0 CACNA1I constrhet 1173 G D 1 CACNA1I:1173:D:G ENST00000402142;NM_021096.3 22 40059775 rs746193320 G A gnomAD Exomes PASS NA p.Val1176Ile p.Val1176Ile c.3526G>A missense_variant segdup 13 6.31245690534228e-05 0 10 0 0 0 0 2 1 CACNA1I constrhet 1176 I V 1 CACNA1I:1176:V:I ENST00000402142;NM_021096.3 22 40059802 rs371808814 A G gnomAD Exomes PASS NA p.Ile1185Val p.Ile1185Val c.3553A>G missense_variant segdup 3 1.45639551818553e-05 0 0 0 0 0 1 0 2 CACNA1I constrhet 1185 V I 1 CACNA1I:1185:I:V ENST00000402142;NM_021096.3 22 40059821 rs769347392 G A gnomAD Exomes PASS NA p.Arg1191Gln p.Arg1191Gln c.3572G>A missense_variant segdup 2 9.71326443391095e-06 0 0 0 0 0 1 0 1 CACNA1I constrhet 1191 Q R 1 CACNA1I:1191:R:Q ENST00000402142;NM_021096.3 22 40059827 rs772701088 A G gnomAD Exomes PASS NA p.Gln1193Arg p.Gln1193Arg c.3578A>G missense_variant segdup 4 1.94274723887049e-05 0 0 0 0 0 4 0 0 CACNA1I constrhet 1193 R Q 1 CACNA1I:1193:Q:R ENST00000402142;NM_021096.3 22 40059828 rs58500586 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1193His p.Gln1193His c.3579G>C missense_variant segdup 772 0.003399024321516 14 40 239 0 28 419 15 17 CACNA1I constrhet 1193 H Q 1 CACNA1I:1193:Q:H ENST00000402142;NM_021096.3 22 40059828 rs58500586 G T gnomAD Exomes PASS NA p.Gln1193His p.Gln1193His c.3579G>T missense_variant segdup 2 9.71505736741375e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 1193 H Q 1 CACNA1I:1193:Q:H ENST00000402142;NM_021096.3 22 40060114 rs750713261 G A gnomAD Exomes PASS NA p.Val1206Met p.Val1206Met c.3616G>A missense_variant segdup 3 1.46201680344646e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1206 M V 1 CACNA1I:1206:V:M ENST00000402142;NM_021096.3 22 40060750 rs759742222 T G gnomAD Exomes PASS NA p.Ser1225Ala p.Ser1225Ala c.3673T>G missense_variant 7 3.7597215657629e-05 0 0 0 0 1 6 0 0 CACNA1I constrhet 1225 A S 1 CACNA1I:1225:S:A ENST00000402142;NM_021096.3 22 40060759 rs764465994 C A gnomAD Exomes PASS NA p.Leu1228Met p.Leu1228Met c.3682C>A missense_variant 2 1.01523873338816e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 1228 M L 1 CACNA1I:1228:L:M ENST00000402142;NM_021096.3 22 40060768 rs376169293 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1231Ser p.Gly1231Ser c.3691G>A missense_variant segdup 45 0.00020310892054379 0 1 4 1 2 37 0 0 CACNA1I constrhet 1231 S G 1 CACNA1I:1231:G:S ENST00000402142;NM_021096.3 22 40060775 rs751319763 A C gnomAD Exomes PASS NA p.Gln1233Pro p.Gln1233Pro c.3698A>C missense_variant segdup 2 9.86125218180204e-06 0 0 0 0 0 1 1 0 CACNA1I constrhet 1233 P Q 1 CACNA1I:1233:Q:P ENST00000402142;NM_021096.3 22 40060786 rs1328080012 C T gnomAD Exomes PASS NA p.Arg1237Cys p.Arg1237Cys c.3709C>T missense_variant segdup 2 9.80411380615306e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1237 C R 1 CACNA1I:1237:R:C ENST00000402142;NM_021096.3 22 40060915 rs751088898 C G gnomAD Exomes PASS NA p.Leu1280Val p.Leu1280Val c.3838C>G missense_variant 3 1.47132389724274e-05 0 3 0 0 0 0 0 0 CACNA1I constrhet 1280 V L 1 CACNA1I:1280:L:V ENST00000402142;NM_021096.3 22 40060924 rs1429047208 C G gnomAD Exomes PASS NA p.Leu1283Val p.Leu1283Val c.3847C>G missense_variant 2 9.82887921290335e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1283 V L 1 CACNA1I:1283:L:V ENST00000402142;NM_021096.3 22 40061514 rs763835762 G A gnomAD Exomes PASS NA p.Arg1288Gln p.Arg1288Gln c.3863G>A missense_variant segdup 3 1.46020929666586e-05 0 3 0 0 0 0 0 0 CACNA1I constrhet 1288 Q R 1 CACNA1I:1288:R:Q ENST00000402142;NM_021096.3 22 40061520 rs1468688369 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1290Leu p.Pro1290Leu c.3869C>T missense_variant segdup 3 1.32327643244674e-05 1 0 0 0 0 1 1 0 CACNA1I constrhet 1290 L P 1 CACNA1I:1290:P:L ENST00000402142;NM_021096.3 22 40061603 rs768448227 A G gnomAD Exomes PASS NA p.Ile1318Val p.Ile1318Val c.3952A>G missense_variant segdup 3 1.45849133656146e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1318 V I 1 CACNA1I:1318:I:V ENST00000402142;NM_021096.3 22 40061919 rs901787176 G A gnomAD Exomes PASS NA p.Val1338Met p.Val1338Met c.4012G>A missense_variant 3 1.45673497135088e-05 1 0 0 0 0 0 0 2 CACNA1I constrhet 1338 M V 1 CACNA1I:1338:V:M ENST00000402142;NM_021096.3 22 40061929 rs774887441 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1341His p.Arg1341His c.4022G>A missense_variant 13 5.72243546853541e-05 0 11 0 1 0 1 0 0 CACNA1I constrhet 1341 H R 1 CACNA1I:1341:R:H ENST00000402142;NM_021096.3 22 40061947 rs373111190 C T gnomAD Exomes PASS NA p.Ser1347Leu p.Ser1347Leu c.4040C>T missense_variant 17 8.25787898806979e-05 1 0 0 0 0 14 0 2 CACNA1I constrhet 1347 L S 1 CACNA1I:1347:S:L ENST00000402142;NM_021096.3 22 40061992 rs766297708 A G gnomAD Exomes PASS NA p.Asn1362Ser p.Asn1362Ser c.4085A>G missense_variant 2 9.73861555841222e-06 0 2 0 0 0 0 0 0 CACNA1I constrhet 1362 S N 1 CACNA1I:1362:N:S ENST00000402142;NM_021096.3 22 40062010 rs535312900 A G gnomAD Exomes PASS NA p.Gln1368Arg p.Gln1368Arg c.4103A>G missense_variant 4 1.95388823759281e-05 0 1 0 0 0 0 0 3 CACNA1I constrhet 1368 R Q 1 CACNA1I:1368:Q:R ENST00000402142;NM_021096.3 22 40064348 rs779140011 A T gnomAD Exomes PASS NA p.Met1386Leu p.Met1386Leu c.4156A>T missense_variant segdup 2 9.73842588084062e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 1386 L M 1 CACNA1I:1386:M:L ENST00000402142;NM_021096.3 22 40064351 rs1285479598 T C gnomAD Exomes PASS NA p.Tyr1387His p.Tyr1387His c.4159T>C missense_variant segdup 6 2.92164157301182e-05 0 5 0 0 0 0 1 0 CACNA1I constrhet 1387 H Y 1 CACNA1I:1387:Y:H ENST00000402142;NM_021096.3 22 40064382 rs780699480 A G gnomAD Exomes PASS NA p.Gln1397Arg p.Gln1397Arg c.4190A>G missense_variant segdup 4 1.95000195000195e-05 0 0 0 4 0 0 0 0 CACNA1I constrhet 1397 R Q 1 CACNA1I:1397:Q:R ENST00000402142;NM_021096.3 22 40066097 rs749013976 A G gnomAD Exomes PASS NA p.Ile1417Val p.Ile1417Val c.4249A>G missense_variant segdup 2 9.70412134033324e-06 1 0 0 0 0 1 0 0 CACNA1I constrhet 1417 V I 1 CACNA1I:1417:I:V ENST00000402142;NM_021096.3 22 40066100 rs770472437 G A gnomAD Exomes PASS NA p.Val1418Ile p.Val1418Ile c.4252G>A missense_variant segdup 2 9.70402717127608e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1418 I V 1 CACNA1I:1418:V:I ENST00000402142;NM_021096.3 22 40066161 rs775512120 G A gnomAD Exomes PASS NA p.Arg1438Gln p.Arg1438Gln c.4313G>A missense_variant segdup 2 9.70487475859124e-06 0 0 0 0 1 0 0 1 CACNA1I constrhet 1438 Q R 1 CACNA1I:1438:R:Q ENST00000402142;NM_021096.3 22 40066187 rs760683325 C T gnomAD Exomes PASS NA p.Arg1447Trp p.Arg1447Trp c.4339C>T missense_variant segdup 4 1.94178527738403e-05 0 0 0 1 0 1 0 2 CACNA1I constrhet 1447 W R 1 CACNA1I:1447:R:W ENST00000402142;NM_021096.3 22 40066191 rs201480163 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1448Gln p.Arg1448Gln c.4343G>A missense_variant segdup 16 7.04194357642709e-05 0 1 0 0 0 10 0 5 CACNA1I constrhet 1448 Q R 1 CACNA1I:1448:R:Q ENST00000402142;NM_021096.3 22 40066194 rs1472537135 G A gnomAD Exomes PASS NA p.Arg1449His p.Arg1449His c.4346G>A missense_variant segdup 2 9.71213239578882e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1449 H R 1 CACNA1I:1449:R:H ENST00000402142;NM_021096.3 22 40066205 rs1410523453 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1453Trp p.Arg1453Trp c.4357C>T missense_variant segdup 4 1.76317088652232e-05 0 1 0 0 0 2 0 1 CACNA1I constrhet 1453 W R 1 CACNA1I:1453:R:W ENST00000402142;NM_021096.3 22 40066211 rs763649119 C T gnomAD Exomes PASS NA p.Arg1455Trp p.Arg1455Trp c.4363C>T missense_variant segdup 7 3.40805078969405e-05 0 3 0 0 1 2 0 1 CACNA1I constrhet 1455 W R 1 CACNA1I:1455:R:W ENST00000402142;NM_021096.3 22 40066212 rs765332484 G A gnomAD Exomes PASS NA p.Arg1455Gln p.Arg1455Gln c.4364G>A missense_variant segdup 5 2.434725022156e-05 0 2 1 0 0 1 0 1 CACNA1I constrhet 1455 Q R 1 CACNA1I:1455:R:Q ENST00000402142;NM_021096.3 22 40066214 rs763242832 C T gnomAD Exomes PASS NA p.Arg1456Cys p.Arg1456Cys c.4366C>T missense_variant segdup 4 1.94852009898482e-05 0 1 0 0 1 1 0 1 CACNA1I constrhet 1456 C R 1 CACNA1I:1456:R:C ENST00000402142;NM_021096.3 22 40066215 rs766713729 G A gnomAD Exomes PASS NA p.Arg1456His p.Arg1456His c.4367G>A missense_variant segdup 4 1.94914676100537e-05 1 0 0 0 0 3 0 0 CACNA1I constrhet 1456 H R 1 CACNA1I:1456:R:H ENST00000402142;NM_021096.3 22 40066223 rs755450553 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1459Glu p.Lys1459Glu c.4375A>G missense_variant segdup 3 1.32696390658174e-05 1 0 0 0 0 2 0 0 CACNA1I constrhet 1459 E K 1 CACNA1I:1459:K:E ENST00000402142;NM_021096.3 22 40066229 rs777395492 C T gnomAD Exomes PASS NA p.Arg1461Cys p.Arg1461Cys c.4381C>T missense_variant segdup 3 1.47042965954652e-05 0 0 0 0 0 2 0 1 CACNA1I constrhet 1461 C R 1 CACNA1I:1461:R:C ENST00000402142;NM_021096.3 22 40066230 rs373284314 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1461His p.Arg1461His c.4382G>A missense_variant segdup 4 1.77630936203849e-05 0 0 0 0 0 2 0 2 CACNA1I constrhet 1461 H R 1 CACNA1I:1461:R:H ENST00000402142;NM_021096.3 22 40066232 rs377391998 C T gnomAD Exomes PASS NA p.Arg1462Trp p.Arg1462Trp c.4384C>T missense_variant segdup 2 9.81277230443145e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1462 W R 1 CACNA1I:1462:R:W ENST00000402142;NM_021096.3 22 40066233 rs199781624 G A gnomAD Exomes PASS NA p.Arg1462Gln p.Arg1462Gln c.4385G>A missense_variant segdup 2 9.83032852957946e-06 0 1 0 1 0 0 0 0 CACNA1I constrhet 1462 Q R 1 CACNA1I:1462:R:Q ENST00000402142;NM_021096.3 22 40066816 rs758099810 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1466Trp p.Arg1466Trp c.4396C>T missense_variant 2 8.79917639708923e-06 0 0 0 1 0 1 0 0 CACNA1I constrhet 1466 W R 1 CACNA1I:1466:R:W ENST00000402142;NM_021096.3 22 40066817 rs1010942110 G A gnomAD Exomes PASS NA p.Arg1466Gln p.Arg1466Gln c.4397G>A missense_variant 2 9.70609931280817e-06 0 0 0 1 0 0 0 1 CACNA1I constrhet 1466 Q R 1 CACNA1I:1466:R:Q ENST00000402142;NM_021096.3 22 40066835 rs746760938 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1472Ile p.Thr1472Ile c.4415C>T missense_variant 2 8.79840221015863e-06 0 0 0 0 0 1 0 1 CACNA1I constrhet 1472 I T 1 CACNA1I:1472:T:I ENST00000402142;NM_021096.3 22 40066862 rs566060624 A C gnomAD Exomes PASS NA p.His1481Pro p.His1481Pro c.4442A>C missense_variant 3 1.45713120009326e-05 0 0 0 0 1 2 0 0 CACNA1I constrhet 1481 P H 1 CACNA1I:1481:H:P ENST00000402142;NM_021096.3 22 40066865 rs374998349 C A gnomAD Exomes PASS NA p.Ser1482Tyr p.Ser1482Tyr c.4445C>A missense_variant 2 9.70581669594588e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1482 Y S 1 CACNA1I:1482:S:Y ENST00000402142;NM_021096.3 22 40066867 rs762723009 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1483Leu p.Met1483Leu c.4447A>C missense_variant segdup 3 1.32904494830015e-05 0 0 0 3 0 0 0 0 CACNA1I constrhet 1483 L M 1 CACNA1I:1483:M:L ENST00000402142;NM_021096.3 22 40066924 rs772849213 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1502Ile p.Val1502Ile c.4504G>A missense_variant segdup 3 1.3197254970966e-05 3 0 0 0 0 0 0 0 CACNA1I constrhet 1502 I V 1 CACNA1I:1502:V:I ENST00000402142;NM_021096.3 22 40066949 rs759193936 A G gnomAD Exomes PASS NA p.Asn1510Ser p.Asn1510Ser c.4529A>G missense_variant segdup 3 1.45621171376703e-05 0 0 0 0 0 0 0 3 CACNA1I constrhet 1510 S N 1 CACNA1I:1510:N:S ENST00000402142;NM_021096.3 22 40066958 rs8141262 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1513Met p.Thr1513Met c.4538C>T missense_variant segdup 5686 0.0250325784524355 4996 350 133 2 0 118 72 15 CACNA1I constrhet 1513 M T 1 CACNA1I:1513:T:M ENST00000402142;NM_021096.3 22 40068213 rs1245559492 A G gnomAD Exomes PASS NA p.Thr1517Ala p.Thr1517Ala c.4549A>G missense_variant 2 9.70553409554128e-06 0 2 0 0 0 0 0 0 CACNA1I constrhet 1517 A T 1 CACNA1I:1517:T:A ENST00000402142;NM_021096.3 22 40068239 rs759135846 G A gnomAD Exomes PASS NA p.Met1525Ile p.Met1525Ile c.4575G>A missense_variant segdup 2 9.70421551121807e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1525 I M 1 CACNA1I:1525:M:I ENST00000402142;NM_021096.3 22 40068264 rs753843385 G T gnomAD Exomes PASS NA p.Ala1534Ser p.Ala1534Ser c.4600G>T missense_variant segdup 2 9.70421551121807e-06 0 2 0 0 0 0 0 0 CACNA1I constrhet 1534 S A 1 CACNA1I:1534:A:S ENST00000402142;NM_021096.3 22 40068267 rs59154418 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1535Leu p.Val1535Leu c.4603G>T missense_variant segdup 92 0.000404676654555691 0 2 0 0 5 83 2 0 CACNA1I constrhet 1535 L V 1 CACNA1I:1535:V:L ENST00000402142;NM_021096.3 22 40068297 rs372009981 C T gnomAD Exomes PASS NA p.Arg1545Cys p.Arg1545Cys c.4633C>T missense_variant 14 6.79347826086957e-05 0 0 2 0 0 4 0 8 CACNA1I constrhet 1545 C R 1 CACNA1I:1545:R:C ENST00000402142;NM_021096.3 22 40068298 rs376986131 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1545His p.Arg1545His c.4634G>A missense_variant 18 7.9191193939234e-05 0 1 0 1 0 8 0 8 CACNA1I constrhet 1545 H R 1 CACNA1I:1545:R:H ENST00000402142;NM_021096.3 22 40068303 rs1224569030 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1547Leu p.Phe1547Leu c.4639T>C missense_variant 3 1.31969066450824e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1547 L F 1 CACNA1I:1547:F:L ENST00000402142;NM_021096.3 22 40068313 rs1210064313 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1550Gln p.Arg1550Gln c.4649G>A missense_variant 3 1.31969066450824e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1550 Q R 1 CACNA1I:1550:R:Q ENST00000402142;NM_021096.3 22 40069025 rs781705557 A G gnomAD Exomes PASS NA p.Asn1574Ser p.Asn1574Ser c.4721A>G missense_variant segdup 3 1.45662180271514e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1574 S N 1 CACNA1I:1574:N:S ENST00000402142;NM_021096.3 22 40070000 rs747847066 C T gnomAD Exomes PASS NA p.Arg1606Trp p.Arg1606Trp c.4816C>T missense_variant segdup 2 9.74858401817136e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1606 W R 1 CACNA1I:1606:R:W ENST00000402142;NM_021096.3 22 40073377 rs745852805 T C gnomAD Exomes PASS NA p.Leu1629Pro p.Leu1629Pro c.4886T>C missense_variant segdup 2 1.05869399508766e-05 0 0 0 0 1 1 0 0 CACNA1I constrhet 1629 P L 1 CACNA1I:1629:L:P ENST00000402142;NM_021096.3 22 40074000 rs375247710 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1648Asn p.Asp1648Asn c.4942G>A missense_variant 3 1.51660684495223e-05 1 0 0 0 0 2 0 0 CACNA1I constrhet 1648 N D 1 CACNA1I:1648:D:N ENST00000402142;NM_021096.3 22 40074023 rs1252161548 G A gnomAD Exomes PASS NA p.Met1655Ile p.Met1655Ile c.4965G>A missense_variant segdup 15 8.0313544076073e-05 0 14 0 0 0 0 1 0 CACNA1I constrhet 1655 I M 1 CACNA1I:1655:M:I ENST00000402142;NM_021096.3 22 40074028 rs1016081416 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1657Gln p.Arg1657Gln c.4970G>A missense_variant segdup 4 1.90992780472898e-05 0 2 0 0 0 2 0 0 CACNA1I constrhet 1657 Q R 1 CACNA1I:1657:R:Q ENST00000402142;NM_021096.3 22 40074042 rs779864016 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1662Lys p.Glu1662Lys c.4984G>A missense_variant segdup 9 4.19964163058086e-05 0 0 0 0 1 5 2 1 CACNA1I constrhet 1662 K E 1 CACNA1I:1662:E:K ENST00000402142;NM_021096.3 22 40074048 rs1360944895 T C gnomAD Exomes PASS NA p.Phe1664Leu p.Phe1664Leu c.4990T>C missense_variant segdup 2 1.02194107487762e-05 0 2 0 0 0 0 0 0 CACNA1I constrhet 1664 L F 1 CACNA1I:1664:F:L ENST00000402142;NM_021096.3 22 40074102 rs199971008 G A gnomAD Exomes PASS NA p.Gly1682Arg p.Gly1682Arg c.5044G>A missense_variant segdup 2 9.87703096449207e-06 0 0 0 0 1 1 0 0 CACNA1I constrhet 1682 R G 1 CACNA1I:1682:G:R ENST00000402142;NM_021096.3 22 40075121 rs749562967 C T gnomAD Exomes PASS NA p.Arg1689Trp p.Arg1689Trp c.5065C>T missense_variant 2 1.13354266087804e-05 0 0 0 1 0 1 0 0 CACNA1I constrhet 1689 W R 1 CACNA1I:1689:R:W ENST00000402142;NM_021096.3 22 40075205 rs868603766 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1717Thr p.Ala1717Thr c.5149G>A missense_variant segdup 6 3.03819004891486e-05 0 0 0 0 0 5 0 1 CACNA1I constrhet 1717 T A 1 CACNA1I:1717:A:T ENST00000402142;NM_021096.3 22 40075307 rs368234927 G A gnomAD Exomes PASS NA p.Glu1751Lys p.Glu1751Lys c.5251G>A missense_variant segdup 6 4.34524413029939e-05 0 0 0 0 0 1 0 5 CACNA1I constrhet 1751 K E 1 CACNA1I:1751:E:K ENST00000402142;NM_021096.3 22 40075323 rs59097762 A T gnomAD Exomes PASS NA p.His1756Leu p.His1756Leu c.5267A>T missense_variant 5 3.79385698676703e-05 0 5 0 0 0 0 0 0 CACNA1I constrhet 1756 L H 1 CACNA1I:1756:H:L ENST00000402142;NM_021096.3 22 40075323 rs59097762 A G gnomAD Exomes PASS NA p.His1756Arg p.His1756Arg c.5267A>G missense_variant 26 0.000197280563311885 0 17 0 0 0 0 6 3 CACNA1I constrhet 1756 R H 1 CACNA1I:1756:H:R ENST00000402142;NM_021096.3 22 40075341 rs59504308 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1762Leu p.Pro1762Leu c.5285C>T missense_variant 2351 0.0161350097455184 42 147 59 0 474 1419 91 119 CACNA1I constrhet 1762 L P 1 CACNA1I:1762:P:L ENST00000402142;NM_021096.3 22 40075349 rs1378784990 C T gnomAD Exomes PASS NA p.Pro1765Ser p.Pro1765Ser c.5293C>T missense_variant 6 4.98952200379204e-05 0 0 0 1 0 4 0 1 CACNA1I constrhet 1765 S P 1 CACNA1I:1765:P:S ENST00000402142;NM_021096.3 22 40075355 rs780593959 G T gnomAD Exomes PASS NA p.Gly1767Cys p.Gly1767Cys c.5299G>T missense_variant 3 2.56524267195677e-05 0 3 0 0 0 0 0 0 CACNA1I constrhet 1767 C G 1 CACNA1I:1767:G:C ENST00000402142;NM_021096.3 22 40075355 rs780593959 G A gnomAD Exomes PASS NA p.Gly1767Ser p.Gly1767Ser c.5299G>A missense_variant 2 1.71016178130451e-05 1 0 0 0 0 1 0 0 CACNA1I constrhet 1767 S G 1 CACNA1I:1767:G:S ENST00000402142;NM_021096.3 22 40075362 rs751904410 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1769Leu p.Pro1769Leu c.5306C>T missense_variant 6 4.42047564317921e-05 0 2 0 0 0 2 0 2 CACNA1I constrhet 1769 L P 1 CACNA1I:1769:P:L ENST00000402142;NM_021096.3 22 40075362 rs751904410 C G gnomAD Exomes PASS NA p.Pro1769Arg p.Pro1769Arg c.5306C>G missense_variant 2 1.74517024135704e-05 0 0 0 2 0 0 0 0 CACNA1I constrhet 1769 R P 1 CACNA1I:1769:P:R ENST00000402142;NM_021096.3 22 40075367 rs1332700938 G A gnomAD Exomes PASS NA p.Ala1771Thr p.Ala1771Thr c.5311G>A missense_variant 2 1.78731009830206e-05 0 0 0 2 0 0 0 0 CACNA1I constrhet 1771 T A 1 CACNA1I:1771:A:T ENST00000402142;NM_021096.3 22 40075377 rs925854645 G A gnomAD Exomes PASS NA p.Arg1774Gln p.Arg1774Gln c.5321G>A missense_variant 5 4.98743167218609e-05 0 3 0 0 0 1 0 1 CACNA1I constrhet 1774 Q R 1 CACNA1I:1774:R:Q ENST00000402142;NM_021096.3 22 40075386 rs1052952412 G C gnomAD Exomes PASS NA p.Gly1777Ala p.Gly1777Ala c.5330G>C missense_variant 4 4.08889252346002e-05 0 2 2 0 0 0 0 0 CACNA1I constrhet 1777 A G 1 CACNA1I:1777:G:A ENST00000402142;NM_021096.3 22 40075397 rs1251811015 G A gnomAD Exomes PASS NA p.Gly1781Ser p.Gly1781Ser c.5341G>A missense_variant 2 2.71746514850947e-05 0 0 0 1 0 1 0 0 CACNA1I constrhet 1781 S G 1 CACNA1I:1781:G:S ENST00000402142;NM_021096.3 22 40075400 rs2294369 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1782Arg p.Gly1782Arg c.5344G>A missense_variant 20336 0.218817250581045 363 3774 991 320 1460 10695 711 2022 CACNA1I constrhet 1782 R G 1 CACNA1I:1782:G:R ENST00000402142;NM_021096.3 22 40075412 rs1325193272 G A gnomAD Exomes PASS NA p.Glu1786Lys p.Glu1786Lys c.5356G>A missense_variant 3 6.64098817904104e-05 2 0 0 0 0 1 0 0 CACNA1I constrhet 1786 K E 1 CACNA1I:1786:E:K ENST00000402142;NM_021096.3 22 40075415 rs1392358273 G C gnomAD Genomes NA PASS p.Gly1787Arg p.Gly1787Arg c.5359G>C missense_variant 2 9.47149081265391e-05 2 0 0 0 0 0 0 0 CACNA1I constrhet 1787 R G 1 CACNA1I:1787:G:R ENST00000402142;NM_021096.3 22 40075418 rs1039463104 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1788Ser p.Gly1788Ser c.5362G>A missense_variant 2 3.49283967865875e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 1788 S G 1 CACNA1I:1788:G:S ENST00000402142;NM_021096.3 22 40075419 rs995535640 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1788Asp p.Gly1788Asp c.5363G>A missense_variant 12 0.000209183139838929 0 0 0 0 0 12 0 0 CACNA1I constrhet 1788 D G 1 CACNA1I:1788:G:D ENST00000402142;NM_021096.3 22 40075427 rs1358965666 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1791Trp p.Arg1791Trp c.5371C>T missense_variant 4 7.44684812153256e-05 0 1 0 3 0 0 0 0 CACNA1I constrhet 1791 W R 1 CACNA1I:1791:R:W ENST00000402142;NM_021096.3 22 40075430 rs1273184900 C T gnomAD Exomes PASS NA p.Arg1792Cys p.Arg1792Cys c.5374C>T missense_variant 3 9.93706525339516e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1792 C R 1 CACNA1I:1792:R:C ENST00000402142;NM_021096.3 22 40075440 rs1026466143 C T gnomAD Exomes PASS NA p.Ser1795Leu p.Ser1795Leu c.5384C>T missense_variant 2 6.99741095794556e-05 0 0 0 1 0 1 0 0 CACNA1I constrhet 1795 L S 1 CACNA1I:1795:S:L ENST00000402142;NM_021096.3 22 40075446 rs774252695 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1797Val p.Ala1797Val c.5390C>T missense_variant 3 6.22071081988969e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1797 V A 1 CACNA1I:1797:A:V ENST00000402142;NM_021096.3 22 40075732 rs746664233 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1800Lys p.Asn1800Lys c.5400C>A missense_variant 5 2.22987316481439e-05 0 0 0 0 0 1 0 4 CACNA1I constrhet 1800 K N 1 CACNA1I:1800:N:K ENST00000402142;NM_021096.3 22 40075733 rs56656729 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1801Met p.Leu1801Met c.5401C>A missense_variant 2171 0.00968815822355503 40 142 19 0 166 1493 54 257 CACNA1I constrhet 1801 M L 1 CACNA1I:1801:L:M ENST00000402142;NM_021096.3 22 40075748 rs370609693 G A gnomAD Exomes PASS NA p.Val1806Ile p.Val1806Ile c.5416G>A missense_variant 6 2.95298842428538e-05 0 1 0 0 0 3 0 2 CACNA1I constrhet 1806 I V 1 CACNA1I:1806:V:I ENST00000402142;NM_021096.3 22 40075777 rs753671957 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1815Asp p.Glu1815Asp c.5445G>C missense_variant 16 7.1034078599208e-05 0 0 0 0 0 14 1 1 CACNA1I constrhet 1815 D E 1 CACNA1I:1815:E:D ENST00000402142;NM_021096.3 22 40075777 rs753671957 G T gnomAD Exomes PASS NA p.Glu1815Asp p.Glu1815Asp c.5445G>T missense_variant 2 9.8028643969768e-06 0 2 0 0 0 0 0 0 CACNA1I constrhet 1815 D E 1 CACNA1I:1815:E:D ENST00000402142;NM_021096.3 22 40075796 rs766561997 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1822Asn p.Asp1822Asn c.5464G>A missense_variant 3 1.33251605681848e-05 0 0 0 0 0 2 0 1 CACNA1I constrhet 1822 N D 1 CACNA1I:1822:D:N ENST00000402142;NM_021096.3 22 40075833 rs754360072 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1834Leu p.Ser1834Leu c.5501C>T missense_variant 4 1.77921696661299e-05 0 0 0 0 0 3 1 0 CACNA1I constrhet 1834 L S 1 CACNA1I:1834:S:L ENST00000402142;NM_021096.3 22 40075841 rs746682458 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1837Ser p.Gly1837Ser c.5509G>A missense_variant 8 3.56061954780132e-05 1 1 0 1 0 4 0 1 CACNA1I constrhet 1837 S G 1 CACNA1I:1837:G:S ENST00000402142;NM_021096.3 22 40075854 rs548249270 G A gnomAD Exomes PASS NA p.Cys1841Tyr p.Cys1841Tyr c.5522G>A missense_variant 2 9.84155102844208e-06 2 0 0 0 0 0 0 0 CACNA1I constrhet 1841 Y C 1 CACNA1I:1841:C:Y ENST00000402142;NM_021096.3 22 40075862 rs771184662 G A gnomAD Exomes PASS NA p.Asp1844Asn p.Asp1844Asn c.5530G>A missense_variant 4 1.97562083884861e-05 0 4 0 0 0 0 0 0 CACNA1I constrhet 1844 N D 1 CACNA1I:1844:D:N ENST00000402142;NM_021096.3 22 40075869 rs1185041339 A G gnomAD Exomes PASS NA p.Gln1846Arg p.Gln1846Arg c.5537A>G missense_variant 2 9.88435306909163e-06 0 1 0 0 0 1 0 0 CACNA1I constrhet 1846 R Q 1 CACNA1I:1846:Q:R ENST00000402142;NM_021096.3 22 40076951 rs200793483 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1853Met p.Thr1853Met c.5558C>T missense_variant 25 0.000111549376215888 0 0 0 1 20 4 0 0 CACNA1I constrhet 1853 M T 1 CACNA1I:1853:T:M ENST00000402142;NM_021096.3 22 40076965 rs548389232 C G gnomAD Exomes PASS NA p.Leu1858Val p.Leu1858Val c.5572C>G missense_variant 3 1.47285527724046e-05 3 0 0 0 0 0 0 0 CACNA1I constrhet 1858 V L 1 CACNA1I:1858:L:V ENST00000402142;NM_021096.3 22 40076984 rs753621012 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1864Leu p.Ser1864Leu c.5591C>T missense_variant 3 1.33412788060445e-05 1 0 0 0 0 2 0 0 CACNA1I constrhet 1864 L S 1 CACNA1I:1864:S:L ENST00000402142;NM_021096.3 22 40076992 rs1279002340 C A gnomAD Exomes PASS NA p.Leu1867Met p.Leu1867Met c.5599C>A missense_variant 2 9.81932443047918e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1867 M L 1 CACNA1I:1867:L:M ENST00000402142;NM_021096.3 22 40077004 rs768853018 G A gnomAD Exomes PASS NA p.Asp1871Asn p.Asp1871Asn c.5611G>A missense_variant 3 1.47588405454867e-05 0 2 0 0 0 1 0 0 CACNA1I constrhet 1871 N D 1 CACNA1I:1871:D:N ENST00000402142;NM_021096.3 22 40077006 rs376733895 C A gnomAD Exomes PASS NA p.Asp1871Glu p.Asp1871Glu c.5613C>A missense_variant 2 9.83458232528864e-06 0 0 0 0 0 1 1 0 CACNA1I constrhet 1871 E D 1 CACNA1I:1871:D:E ENST00000402142;NM_021096.3 22 40077013 rs773747088 C T gnomAD Exomes PASS NA p.Leu1874Phe p.Leu1874Phe c.5620C>T missense_variant 3 1.47697397571855e-05 0 1 0 0 0 2 0 0 CACNA1I constrhet 1874 F L 1 CACNA1I:1874:L:F ENST00000402142;NM_021096.3 22 40077016 rs766958362 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1875Lys p.Glu1875Lys c.5623G>A missense_variant 7 3.12260228752922e-05 0 0 0 1 0 4 0 2 CACNA1I constrhet 1875 K E 1 CACNA1I:1875:E:K ENST00000402142;NM_021096.3 22 40077043 rs183581233 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1884Cys p.Arg1884Cys c.5650C>T missense_variant 9 4.03569346666069e-05 0 2 0 1 0 5 1 0 CACNA1I constrhet 1884 C R 1 CACNA1I:1884:R:C ENST00000402142;NM_021096.3 22 40077044 rs763783477 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1884His p.Arg1884His c.5651G>A missense_variant 13 5.85364096468003e-05 0 3 0 6 0 3 0 1 CACNA1I constrhet 1884 H R 1 CACNA1I:1884:R:H ENST00000402142;NM_021096.3 22 40078526 rs1446082829 T C gnomAD Exomes PASS NA p.Met1897Thr p.Met1897Thr c.5690T>C missense_variant 2 9.70807809178017e-06 0 2 0 0 0 0 0 0 CACNA1I constrhet 1897 T M 1 CACNA1I:1897:M:T ENST00000402142;NM_021096.3 22 40078527 rs200898756 G A gnomAD Exomes PASS NA p.Met1897Ile p.Met1897Ile c.5691G>A missense_variant 5 2.42701952294504e-05 0 0 0 0 0 5 0 0 CACNA1I constrhet 1897 I M 1 CACNA1I:1897:M:I ENST00000402142;NM_021096.3 22 40078528 rs185177048 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1898Cys p.Arg1898Cys c.5692C>T missense_variant 9 3.96039603960396e-05 1 1 0 5 0 1 0 1 CACNA1I constrhet 1898 C R 1 CACNA1I:1898:R:C ENST00000402142;NM_021096.3 22 40078529 rs373676044 G A gnomAD Exomes PASS NA p.Arg1898His p.Arg1898His c.5693G>A missense_variant 3 1.45611276137224e-05 0 1 0 0 0 2 0 0 CACNA1I constrhet 1898 H R 1 CACNA1I:1898:R:H ENST00000402142;NM_021096.3 22 40078546 rs570266296 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1904Lys p.Glu1904Lys c.5710G>A missense_variant 49 0.000215577924820498 3 0 0 0 1 42 2 1 CACNA1I constrhet 1904 K E 1 CACNA1I:1904:E:K ENST00000402142;NM_021096.3 22 40078550 rs772721773 G C gnomAD Exomes PASS NA p.Cys1905Ser p.Cys1905Ser c.5714G>C missense_variant 2 9.706853038245e-06 0 0 0 0 0 1 1 0 CACNA1I constrhet 1905 S C 1 CACNA1I:1905:C:S ENST00000402142;NM_021096.3 22 40078571 rs58055559 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1912Met p.Thr1912Met c.5735C>T missense_variant 48 0.000211208110391439 1 0 34 0 0 7 6 0 CACNA1I constrhet 1912 M T 1 CACNA1I:1912:T:M ENST00000402142;NM_021096.3 22 40078576 rs752733821 G A gnomAD Exomes PASS NA p.Val1914Ile p.Val1914Ile c.5740G>A missense_variant 36 0.000174755584897234 0 11 0 0 0 1 0 24 CACNA1I constrhet 1914 I V 1 CACNA1I:1914:V:I ENST00000402142;NM_021096.3 22 40078580 rs374151542 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1915Leu p.Ser1915Leu c.5744C>T missense_variant 11 4.84035625022002e-05 1 0 0 7 0 2 0 1 CACNA1I constrhet 1915 L S 1 CACNA1I:1915:S:L ENST00000402142;NM_021096.3 22 40078583 rs371001259 C T gnomAD Exomes PASS NA p.Pro1916Leu p.Pro1916Leu c.5747C>T missense_variant 4 1.94170986971127e-05 0 0 0 1 0 2 0 1 CACNA1I constrhet 1916 L P 1 CACNA1I:1916:P:L ENST00000402142;NM_021096.3 22 40078612 rs555936863 G A gnomAD Exomes PASS NA p.Glu1926Lys p.Glu1926Lys c.5776G>A missense_variant 2 9.71401927261424e-06 0 1 0 0 0 1 0 0 CACNA1I constrhet 1926 K E 1 CACNA1I:1926:E:K ENST00000402142;NM_021096.3 22 40078630 rs747713285 C G gnomAD Exomes PASS NA p.Pro1932Ala p.Pro1932Ala c.5794C>G missense_variant 2 9.72781571625907e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1932 A P 1 CACNA1I:1932:P:A ENST00000402142;NM_021096.3 22 40078636 rs772987632 C T gnomAD Exomes PASS NA p.Arg1934Trp p.Arg1934Trp c.5800C>T missense_variant 2 9.73169711065913e-06 0 2 0 0 0 0 0 0 CACNA1I constrhet 1934 W R 1 CACNA1I:1934:R:W ENST00000402142;NM_021096.3 22 40078637 rs762502417 G A gnomAD Exomes PASS NA p.Arg1934Gln p.Arg1934Gln c.5801G>A missense_variant 6 2.92429012857129e-05 0 0 0 0 0 5 1 0 CACNA1I constrhet 1934 Q R 1 CACNA1I:1934:R:Q ENST00000402142;NM_021096.3 22 40078652 rs1051283740 A G gnomAD Exomes PASS NA p.His1939Arg p.His1939Arg c.5816A>G missense_variant 3 1.46342891150158e-05 0 0 0 0 0 3 0 0 CACNA1I constrhet 1939 R H 1 CACNA1I:1939:H:R ENST00000402142;NM_021096.3 22 40080328 rs762123266 C T gnomAD Exomes PASS NA p.Pro1951Leu p.Pro1951Leu c.5852C>T missense_variant 3 1.46782527007985e-05 1 0 0 1 0 1 0 0 CACNA1I constrhet 1951 L P 1 CACNA1I:1951:P:L ENST00000402142;NM_021096.3 22 40080349 rs372471375 T C gnomAD Exomes PASS NA p.Leu1958Pro p.Leu1958Pro c.5873T>C missense_variant 24 0.000117275685818438 0 5 0 0 4 14 1 0 CACNA1I constrhet 1958 P L 1 CACNA1I:1958:L:P ENST00000402142;NM_021096.3 22 40080363 rs750553104 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1963Lys p.Glu1963Lys c.5887G>A missense_variant 7 3.10118731171363e-05 1 0 0 0 0 5 0 1 CACNA1I constrhet 1963 K E 1 CACNA1I:1963:E:K ENST00000402142;NM_021096.3 22 40080381 rs763258285 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1969Met p.Val1969Met c.5905G>A missense_variant 3 1.32730442169346e-05 0 3 0 0 0 0 0 0 CACNA1I constrhet 1969 M V 1 CACNA1I:1969:V:M ENST00000402142;NM_021096.3 22 40080400 rs775205435 G T gnomAD Exomes PASS NA p.Gly1975Val p.Gly1975Val c.5924G>T missense_variant 2 9.758382450525e-06 0 0 0 0 0 2 0 0 CACNA1I constrhet 1975 V G 1 CACNA1I:1975:G:V ENST00000402142;NM_021096.3 22 40080410 rs746966765 G C gnomAD Exomes PASS NA p.Lys1978Asn p.Lys1978Asn c.5934G>C missense_variant 2 9.75172117878806e-06 0 0 0 0 0 0 0 2 CACNA1I constrhet 1978 N K 1 CACNA1I:1978:K:N ENST00000402142;NM_021096.3 22 40080418 rs776790934 G A gnomAD Exomes PASS NA p.Gly1981Asp p.Gly1981Asp c.5942G>A missense_variant 3 1.46245868554213e-05 0 0 0 0 0 0 0 3 CACNA1I constrhet 1981 D G 1 CACNA1I:1981:G:D ENST00000402142;NM_021096.3 22 40080436 rs751934765 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1987Thr p.Lys1987Thr c.5960A>C missense_variant 6 2.64860903881978e-05 1 0 0 1 0 4 0 0 CACNA1I constrhet 1987 T K 1 CACNA1I:1987:K:T ENST00000402142;NM_021096.3 22 40080468 rs552839473 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1998Trp p.Arg1998Trp c.5992C>T missense_variant 10 4.42114012361508e-05 1 0 0 2 0 5 0 2 CACNA1I constrhet 1998 W R 1 CACNA1I:1998:R:W ENST00000402142;NM_021096.3 22 40080469 rs762336883 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1998Gln p.Arg1998Gln c.5993G>A missense_variant 9 3.98194850013273e-05 2 0 0 0 5 2 0 0 CACNA1I constrhet 1998 Q R 1 CACNA1I:1998:R:Q ENST00000402142;NM_021096.3 22 40080479 rs757976658 G C gnomAD Exomes PASS NA p.Arg2001Ser p.Arg2001Ser c.6003G>C missense_variant 19 9.27906545159746e-05 0 18 0 0 0 0 1 0 CACNA1I constrhet 2001 S R 1 CACNA1I:2001:R:S ENST00000402142;NM_021096.3 22 40080479 rs757976658 G T gnomAD Exomes PASS NA p.Arg2001Ser p.Arg2001Ser c.6003G>T missense_variant 4 1.9534874634942e-05 0 0 0 4 0 0 0 0 CACNA1I constrhet 2001 S R 1 CACNA1I:2001:R:S ENST00000402142;NM_021096.3 22 40080498 rs748106748 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2008Trp p.Arg2008Trp c.6022C>T missense_variant 9 4.01846708875454e-05 0 0 0 0 0 8 1 0 CACNA1I constrhet 2008 W R 1 CACNA1I:2008:R:W ENST00000402142;NM_021096.3 22 40080499 rs942465126 G A gnomAD Exomes PASS NA p.Arg2008Gln p.Arg2008Gln c.6023G>A missense_variant 5 2.46750298567861e-05 0 4 0 0 0 1 0 0 CACNA1I constrhet 2008 Q R 1 CACNA1I:2008:R:Q ENST00000402142;NM_021096.3 22 40081767 rs958473922 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2010Asp p.Ala2010Asp c.6029C>A missense_variant 6 7.01672319027014e-05 5 0 0 0 0 1 0 0 CACNA1I constrhet 2010 D A 1 CACNA1I:2010:A:D ENST00000402142;NM_021096.3 22 40081782 rs780985358 C T gnomAD Exomes PASS NA p.Thr2015Met p.Thr2015Met c.6044C>T missense_variant 2 2.69636260684337e-05 0 0 0 0 0 0 0 2 CACNA1I constrhet 2015 M T 1 CACNA1I:2015:T:M ENST00000402142;NM_021096.3 22 40081793 rs909224334 G A gnomAD Genomes NA PASS p.Ala2019Thr p.Ala2019Thr c.6055G>A missense_variant 2 9.47508053818457e-05 0 0 0 0 0 2 0 0 CACNA1I constrhet 2019 T A 1 CACNA1I:2019:A:T ENST00000402142;NM_021096.3 22 40081799 rs577064389 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2021Ser p.Pro2021Ser c.6061C>T missense_variant 29 0.000293688730454509 26 1 0 0 0 0 1 1 CACNA1I constrhet 2021 S P 1 CACNA1I:2021:P:S ENST00000402142;NM_021096.3 22 40081803 rs544398942 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2022Ile p.Ser2022Ile c.6065G>T missense_variant 2 2.01292296543811e-05 1 1 0 0 0 0 0 0 CACNA1I constrhet 2022 I S 1 CACNA1I:2022:S:I ENST00000402142;NM_021096.3 22 40081856 rs771105041 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp2040Tyr p.Asp2040Tyr c.6118G>T missense_variant 142 0.00160782626418171 1 2 0 0 0 49 13 77 CACNA1I constrhet 2040 Y D 1 CACNA1I:2040:D:Y ENST00000402142;NM_021096.3 22 40082126 rs987573312 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu2130Ile p.Leu2130Ile c.6388C>A missense_variant 5 0.000170346143363314 4 1 0 0 0 0 0 0 CACNA1I constrhet 2130 I L 1 CACNA1I:2130:L:I ENST00000402142;NM_021096.3 22 40082193 rs1431732627 A G gnomAD Genomes NA PASS p.Lys2152Arg p.Lys2152Arg c.6455A>G missense_variant 4 0.000197511356903022 0 0 0 0 0 4 0 0 CACNA1I constrhet 2152 R K 1 CACNA1I:2152:K:R ENST00000402142;NM_021096.3 22 40082283 rs1256219792 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2182Val p.Ala2182Val c.6545C>T missense_variant 2 4.13701803739864e-05 0 1 0 0 0 1 0 0 CACNA1I constrhet 2182 V A 1 CACNA1I:2182:A:V ENST00000402142;NM_021096.3 22 40082301 rs1190938948 C T gnomAD Exomes PASS NA p.Pro2188Leu p.Pro2188Leu c.6563C>T missense_variant 3 9.76626082427241e-05 0 2 0 0 0 1 0 0 CACNA1I constrhet 2188 L P 1 CACNA1I:2188:P:L ENST00000402142;NM_021096.3 22 40082306 rs186796996 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2190Ser p.Gly2190Ser c.6568G>A missense_variant 1075 0.0215154911536306 9 806 6 0 11 164 28 51 CACNA1I constrhet 2190 S G 1 CACNA1I:2190:G:S ENST00000402142;NM_021096.3 22 40082352 rs1435361233 C T gnomAD Exomes PASS NA p.Pro2205Leu p.Pro2205Leu c.6614C>T missense_variant 3 0.000175870559268378 0 1 0 0 1 1 0 0 CACNA1I constrhet 2205 L P 1 CACNA1I:2205:P:L ENST00000402142;NM_021096.3 22 40082358 rs1031129335 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2207Leu p.Pro2207Leu c.6620C>T missense_variant 7 0.000189948985129708 1 0 0 0 0 6 0 0 CACNA1I constrhet 2207 L P 1 CACNA1I:2207:P:L ENST00000402142;NM_021096.3 22 40082399 rs778991093 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2221Gly p.Arg2221Gly c.6661A>G missense_variant 12 0.000484027105517909 0 0 0 0 10 0 2 0 CACNA1I constrhet 2221 G R 1 CACNA1I:2221:R:G ENST00000402142;NM_021096.3 X 49061601 rs781977160 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1977Arg p.Leu1977Arg c.5930T>G missense_variant 3 1.82834297276378e-05 0 0 0 0 0 0 1 2 CACNA1F constrhet 1977 R L 1 CACNA1F:1977:L:R ENST00000376265;NM_005183.2;NM_005183.3 X 49061611 rs782793473 C T gnomAD Exomes PASS NA p.Val1974Ile p.Val1974Ile c.5920G>A missense_variant 2 1.33428512338802e-05 0 1 1 0 0 0 0 0 CACNA1F constrhet 1974 I V 1 CACNA1F:1974:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49061617 rs782049869 C A gnomAD Exomes PASS NA p.Ala1972Ser p.Ala1972Ser c.5914G>T missense_variant 3 1.99748317120428e-05 0 0 0 3 0 0 0 0 CACNA1F constrhet 1972 S A 1 CACNA1F:1972:A:S ENST00000376265;NM_005183.2;NM_005183.3 X 49061635 rs376042913 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1966Asn p.Asp1966Asn c.5896G>A missense_variant 13 7.84417841282101e-05 0 0 0 0 0 13 0 0 CACNA1F constrhet 1966 N D 1 CACNA1F:1966:D:N ENST00000376265;NM_005183.2;NM_005183.3 X 49061649 rs782337448 C T gnomAD Exomes PASS NA p.Arg1961His p.Arg1961His c.5882G>A missense_variant 2 1.32561823520444e-05 0 0 0 0 0 1 1 0 CACNA1F constrhet 1961 H R 1 CACNA1F:1961:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49061649 rs782337448 C A gnomAD Exomes PASS NA p.Arg1961Leu p.Arg1961Leu c.5882G>T missense_variant 3 1.98842735280667e-05 0 2 0 0 0 0 1 0 CACNA1F constrhet 1961 L R 1 CACNA1F:1961:R:L ENST00000376265;NM_005183.2;NM_005183.3 X 49061650 rs369122296 G A gnomAD Exomes PASS NA p.Arg1961Cys p.Arg1961Cys c.5881C>T missense_variant 9 5.96832807236266e-05 0 0 0 0 0 9 0 0 CACNA1F constrhet 1961 C R 1 CACNA1F:1961:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49061652 rs373041656 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1960Phe p.Ser1960Phe c.5879C>T missense_variant 25 0.000150862329072981 0 0 22 0 0 3 0 0 CACNA1F constrhet 1960 F S 1 CACNA1F:1960:S:F ENST00000376265;NM_005183.2;NM_005183.3 X 49061668 rs782379230 C T gnomAD Exomes PASS NA p.Glu1955Lys p.Glu1955Lys c.5863G>A missense_variant 3 1.98971978113082e-05 0 0 0 0 0 2 0 1 CACNA1F constrhet 1955 K E 1 CACNA1F:1955:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49061671 rs374663693 C T gnomAD Exomes PASS NA p.Asp1954Asn p.Asp1954Asn c.5860G>A missense_variant 54 0.00035808306200805 0 47 0 1 0 3 3 0 CACNA1F constrhet 1954 N D 1 CACNA1F:1954:D:N ENST00000376265;NM_005183.2;NM_005183.3 X 49061688 G A gnomAD Exomes PASS NA p.Thr1948Ile p.Thr1948Ile c.5843C>T missense_variant 2 1.32661183337755e-05 0 1 0 0 0 1 0 0 CACNA1F constrhet 1948 I T 1 CACNA1F:1948:T:I ENST00000376265;NM_005183.2;NM_005183.3 X 49061718 rs782151284 T C gnomAD Exomes PASS NA p.Asn1938Ser p.Asn1938Ser c.5813A>G missense_variant 3 1.99221707197216e-05 1 0 0 0 0 2 0 0 CACNA1F constrhet 1938 S N 1 CACNA1F:1938:N:S ENST00000376265;NM_005183.2;NM_005183.3 X 49061736 rs782460359 G A gnomAD Exomes PASS NA p.Thr1932Met p.Thr1932Met c.5795C>T missense_variant 2 1.33148700468683e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1932 M T 1 CACNA1F:1932:T:M ENST00000376265;NM_005183.2;NM_005183.3 X 49061742 rs33910054 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1930His p.Arg1930His c.5789G>A missense_variant 15938 0.0971675222220867 292 1675 380 2112 1060 5855 344 4220 CACNA1F constrhet 1930 H R 1 CACNA1F:1930:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49061746 rs782653421 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys1929Arg p.Cys1929Arg c.5785T>C missense_variant 3 1.8239743184416e-05 0 0 0 0 2 0 1 0 CACNA1F constrhet 1929 R C 1 CACNA1F:1929:C:R ENST00000376265;NM_005183.2;NM_005183.3 X 49061757 rs782430129 A G gnomAD Exomes PASS NA p.Ile1925Thr p.Ile1925Thr c.5774T>C missense_variant 3 2.00558890775628e-05 0 0 0 0 0 0 0 3 CACNA1F constrhet 1925 T I 1 CACNA1F:1925:I:T ENST00000376265;NM_005183.2;NM_005183.3 X 49061779 rs782268897 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1918Met p.Val1918Met c.5752G>A missense_variant 4 2.47076772930269e-05 0 0 0 0 0 4 0 0 CACNA1F constrhet 1918 M V 1 CACNA1F:1918:V:M ENST00000376265;NM_005183.2;NM_005183.3 X 49061784 rs371119362 C T gnomAD Exomes PASS NA p.Arg1916His p.Arg1916His c.5747G>A missense_variant 3 2.04877449139173e-05 2 0 0 0 0 1 0 0 CACNA1F constrhet 1916 H R 1 CACNA1F:1916:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49061826 rs148326355 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1902Ala p.Val1902Ala c.5705T>C missense_variant 9 6.12782645995465e-05 9 0 0 0 0 0 0 0 CACNA1F constrhet 1902 A V 1 CACNA1F:1902:V:A ENST00000376265;NM_005183.2;NM_005183.3 X 49062138 rs782033301 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1881Ala p.Pro1881Ala c.5641C>G missense_variant 2 1.30759122083254e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1881 A P 1 CACNA1F:1881:P:A ENST00000376265;NM_005183.2;NM_005183.3 X 49062149 rs374860668 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys1877Phe p.Cys1877Phe c.5630G>T missense_variant 3 1.96157920202958e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1877 F C 1 CACNA1F:1877:C:F ENST00000376265;NM_005183.2;NM_005183.3 X 49062152 G C gnomAD Genomes NA PASS p.Thr1876Ser p.Thr1876Ser c.5627C>G missense_variant 2 0.000135455469014561 0 0 0 2 0 0 0 0 CACNA1F constrhet 1876 S T 1 CACNA1F:1876:T:S ENST00000376265;NM_005183.2;NM_005183.3 X 49062161 rs782778888 C T gnomAD Exomes PASS NA p.Arg1873His p.Arg1873His c.5618G>A missense_variant 4 2.91617456220929e-05 0 0 0 2 0 2 0 0 CACNA1F constrhet 1873 H R 1 CACNA1F:1873:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49062162 rs781892194 G A gnomAD Exomes PASS NA p.Arg1873Cys p.Arg1873Cys c.5617C>T missense_variant 2 1.45358344659171e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1873 C R 1 CACNA1F:1873:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49062171 rs781823188 C T gnomAD Exomes PASS NA p.Gly1870Ser p.Gly1870Ser c.5608G>A missense_variant 2 1.44707329426235e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 1870 S G 1 CACNA1F:1870:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49062183 rs367608150 C T gnomAD Exomes PASS NA p.Gly1866Ser p.Gly1866Ser c.5596G>A missense_variant 5 3.64402270954953e-05 0 0 0 0 0 3 1 1 CACNA1F constrhet 1866 S G 1 CACNA1F:1866:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49062186 rs782383890 G T gnomAD Exomes PASS NA p.Leu1865Ile p.Leu1865Ile c.5593C>A missense_variant 25 0.000181853891309566 0 25 0 0 0 0 0 0 CACNA1F constrhet 1865 I L 1 CACNA1F:1865:L:I ENST00000376265;NM_005183.2;NM_005183.3 X 49062200 rs2856748 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1860Val p.Ala1860Val c.5579C>T missense_variant 4 2.66136168570649e-05 0 0 0 0 0 4 0 0 CACNA1F constrhet 1860 V A 1 CACNA1F:1860:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49062204 C T gnomAD Exomes PASS NA p.Ala1859Thr p.Ala1859Thr c.5575G>A missense_variant 2 1.47933370809787e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 1859 T A 1 CACNA1F:1859:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49062227 rs371307413 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1851Leu p.Pro1851Leu c.5552C>T missense_variant 4 2.64855058069471e-05 0 1 0 2 0 1 0 0 CACNA1F constrhet 1851 L P 1 CACNA1F:1851:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49062242 rs782177944 C T gnomAD Exomes PASS NA p.Arg1846Gln p.Arg1846Gln c.5537G>A missense_variant 4 2.98440647616205e-05 0 0 1 0 0 2 1 0 CACNA1F constrhet 1846 Q R 1 CACNA1F:1846:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49062248 rs781799344 C T gnomAD Exomes PASS NA p.Arg1844Gln p.Arg1844Gln c.5531G>A missense_variant 4 3.0188679245283e-05 0 1 0 0 0 0 0 3 CACNA1F constrhet 1844 Q R 1 CACNA1F:1844:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49062997 rs372426153 C T gnomAD Exomes PASS NA p.Arg1827Gln p.Arg1827Gln c.5480G>A missense_variant 8 5.27586161414986e-05 1 0 0 0 0 6 0 1 CACNA1F constrhet 1827 Q R 1 CACNA1F:1827:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49063003 rs375373629 C T gnomAD Exomes PASS NA p.Arg1825His p.Arg1825His c.5474G>A missense_variant 2 1.31823514678548e-05 0 1 0 0 0 1 0 0 CACNA1F constrhet 1825 H R 1 CACNA1F:1825:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49063004 rs368042608 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1825Cys p.Arg1825Cys c.5473C>T missense_variant 2 1.20117955832628e-05 2 0 0 0 0 0 0 0 CACNA1F constrhet 1825 C R 1 CACNA1F:1825:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49063012 G A gnomAD Exomes PASS NA p.Thr1822Ile p.Thr1822Ile c.5465C>T missense_variant 2 1.31780085393495e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1822 I T 1 CACNA1F:1822:T:I ENST00000376265;NM_005183.2;NM_005183.3 X 49063048 rs150889699 C T gnomAD Exomes PASS NA p.Arg1810His p.Arg1810His c.5429G>A missense_variant 7 4.61230298877234e-05 0 0 0 2 0 5 0 0 CACNA1F constrhet 1810 H R 1 CACNA1F:1810:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49063049 rs200713134 G A gnomAD Exomes PASS NA p.Arg1810Cys p.Arg1810Cys c.5428C>T missense_variant 22 0.000144977199040515 3 2 0 0 0 0 0 17 CACNA1F constrhet 1810 C R 1 CACNA1F:1810:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49063075 rs368843924 G A gnomAD Exomes PASS NA p.Pro1801Leu p.Pro1801Leu c.5402C>T missense_variant 4 2.63932327751165e-05 0 1 0 0 0 3 0 0 CACNA1F constrhet 1801 L P 1 CACNA1F:1801:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49063081 rs782599728 C T gnomAD Exomes PASS NA p.Arg1799Gln p.Arg1799Gln c.5396G>A missense_variant 3 1.98259283490949e-05 0 0 0 0 0 0 0 3 CACNA1F constrhet 1799 Q R 1 CACNA1F:1799:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49063082 rs781841976 G A gnomAD Exomes PASS NA p.Arg1799Trp p.Arg1799Trp c.5395C>T missense_variant 11 7.2699394612314e-05 0 8 0 0 0 0 0 3 CACNA1F constrhet 1799 W R 1 CACNA1F:1799:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49063212 rs781946990 C T gnomAD Exomes PASS NA p.Arg1790His p.Arg1790His c.5369G>A missense_variant 10 6.89061154177433e-05 2 3 0 2 0 2 1 0 CACNA1F constrhet 1790 H R 1 CACNA1F:1790:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49063215 rs201649938 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1789His p.Arg1789His c.5366G>A missense_variant 6 3.74396285988843e-05 1 0 0 0 1 4 0 0 CACNA1F constrhet 1789 H R 1 CACNA1F:1789:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49063216 rs781892709 G A gnomAD Exomes PASS NA p.Arg1789Cys p.Arg1789Cys c.5365C>T missense_variant 3 2.05642839516328e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1789 C R 1 CACNA1F:1789:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49063261 G T gnomAD Exomes PASS NA p.Pro1774Thr p.Pro1774Thr c.5320C>A missense_variant 3 2.02863074187026e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 1774 T P 1 CACNA1F:1774:P:T ENST00000376265;NM_005183.2;NM_005183.3 X 49063278 rs782253898 C T gnomAD Exomes PASS NA p.Cys1768Tyr p.Cys1768Tyr c.5303G>A missense_variant 2 1.3598041881969e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1768 Y C 1 CACNA1F:1768:C:Y ENST00000376265;NM_005183.2;NM_005183.3 X 49063281 rs782529006 G A gnomAD Exomes PASS NA p.Pro1767Leu p.Pro1767Leu c.5300C>T missense_variant 5 3.40553058166462e-05 0 1 0 0 0 0 0 4 CACNA1F constrhet 1767 L P 1 CACNA1F:1767:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49063285 rs782658023 G A gnomAD Exomes PASS NA p.Pro1766Ser p.Pro1766Ser c.5296C>T missense_variant 4 2.73276309676714e-05 0 4 0 0 0 0 0 0 CACNA1F constrhet 1766 S P 1 CACNA1F:1766:P:S ENST00000376265;NM_005183.2;NM_005183.3 X 49063287 rs782291247 G T gnomAD Exomes PASS NA p.Thr1765Asn p.Thr1765Asn c.5294C>A missense_variant 16 0.000109869735694617 0 15 0 0 0 0 1 0 CACNA1F constrhet 1765 N T 1 CACNA1F:1765:T:N ENST00000376265;NM_005183.2;NM_005183.3 X 49063295 rs781936182 C G gnomAD Exomes PASS NA p.Gln1762His p.Gln1762His c.5286G>C missense_variant 2 1.38071963107171e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 1762 H Q 1 CACNA1F:1762:Q:H ENST00000376265;NM_005183.2;NM_005183.3 X 49063315 rs782428735 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1756Phe p.Leu1756Phe c.5266C>T missense_variant 25 0.000158060783855039 0 0 0 23 0 0 1 1 CACNA1F constrhet 1756 F L 1 CACNA1F:1756:L:F ENST00000376265;NM_005183.2;NM_005183.3 X 49063466 C T gnomAD Exomes PASS NA p.Arg1755Gln p.Arg1755Gln c.5264G>A missense_variant 3 2.18202448231469e-05 0 0 0 0 0 2 0 1 CACNA1F constrhet 1755 Q R 1 CACNA1F:1755:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49063482 C T gnomAD Exomes PASS NA p.Glu1750Lys p.Glu1750Lys c.5248G>A missense_variant 3 2.14976710856324e-05 0 0 0 1 0 0 1 1 CACNA1F constrhet 1750 K E 1 CACNA1F:1750:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49063526 rs373546782 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1735Phe p.Ser1735Phe c.5204C>T missense_variant 9 5.8788179656677e-05 0 0 0 0 0 7 2 0 CACNA1F constrhet 1735 F S 1 CACNA1F:1735:S:F ENST00000376265;NM_005183.2;NM_005183.3 X 49063542 rs782547405 G A gnomAD Exomes PASS NA p.Pro1730Ser p.Pro1730Ser c.5188C>T missense_variant 3 2.24665248779319e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1730 S P 1 CACNA1F:1730:P:S ENST00000376265;NM_005183.2;NM_005183.3 X 49064994 rs782384547 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1713Thr p.Ala1713Thr c.5137G>A missense_variant 3 1.86977631242716e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1713 T A 1 CACNA1F:1713:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49065000 rs782006249 G A gnomAD Exomes PASS NA p.Pro1711Ser p.Pro1711Ser c.5131C>T missense_variant 2 1.36488026587868e-05 2 0 0 0 0 0 0 0 CACNA1F constrhet 1711 S P 1 CACNA1F:1711:P:S ENST00000376265;NM_005183.2;NM_005183.3 X 49065050 rs147329320 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1694Glu p.Gly1694Glu c.5081G>A missense_variant 365 0.00220162015115781 205 51 48 0 1 47 12 1 CACNA1F constrhet 1694 E G 1 CACNA1F:1694:G:E ENST00000376265;NM_005183.2;NM_005183.3 X 49065081 rs139409733 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1684Arg p.Gly1684Arg c.5050G>C missense_variant 33 0.000198642010979486 0 2 0 0 0 31 0 0 CACNA1F constrhet 1684 R G 1 CACNA1F:1684:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49065081 rs139409733 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1684Trp p.Gly1684Trp c.5050G>T missense_variant 196 0.00117981315612058 176 15 0 0 0 3 2 0 CACNA1F constrhet 1684 W G 1 CACNA1F:1684:G:W ENST00000376265;NM_005183.2;NM_005183.3 X 49065105 rs782364419 C T gnomAD Exomes PASS NA p.Gly1676Arg p.Gly1676Arg c.5026G>A missense_variant 2 1.32255888693444e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1676 R G 1 CACNA1F:1676:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49065113 rs202214415 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1673Gln p.Arg1673Gln c.5018G>A missense_variant 9 5.42724476873907e-05 1 1 0 0 0 7 0 0 CACNA1F constrhet 1673 Q R 1 CACNA1F:1673:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49065114 rs782039547 G A gnomAD Exomes PASS NA p.Arg1673Trp p.Arg1673Trp c.5017C>T missense_variant 2 1.32339901803793e-05 0 0 0 0 0 1 0 1 CACNA1F constrhet 1673 W R 1 CACNA1F:1673:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49065116 rs781810644 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1672His p.Arg1672His c.5015G>A missense_variant 8 4.82386850134465e-05 0 0 0 0 0 4 1 3 CACNA1F constrhet 1672 H R 1 CACNA1F:1672:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49065117 rs781950119 G A gnomAD Exomes PASS NA p.Arg1672Cys p.Arg1672Cys c.5014C>T missense_variant 4 2.64665793269549e-05 0 3 0 0 0 1 0 0 CACNA1F constrhet 1672 C R 1 CACNA1F:1672:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49065137 rs782760322 A G gnomAD Exomes PASS NA p.Met1665Thr p.Met1665Thr c.4994T>C missense_variant 2 1.32701673368101e-05 2 0 0 0 0 0 0 0 CACNA1F constrhet 1665 T M 1 CACNA1F:1665:M:T ENST00000376265;NM_005183.2;NM_005183.3 X 49065789 rs376524533 T G gnomAD Exomes PASS NA p.Glu1640Ala p.Glu1640Ala c.4919A>C missense_variant 3 2.08427415152673e-05 2 0 0 0 0 0 0 1 CACNA1F constrhet 1640 A E 1 CACNA1F:1640:E:A ENST00000376265;NM_005183.2;NM_005183.3 X 49065799 rs782252232 A C gnomAD Exomes PASS NA p.Cys1637Gly p.Cys1637Gly c.4909T>G missense_variant 2 1.38344158763757e-05 0 0 1 0 0 1 0 0 CACNA1F constrhet 1637 G C 1 CACNA1F:1637:C:G ENST00000376265;NM_005183.2;NM_005183.3 X 49065834 rs369539925 T C gnomAD Exomes PASS NA p.Gln1625Arg p.Gln1625Arg c.4874A>G missense_variant 5 3.38914119162204e-05 0 0 0 0 0 5 0 0 CACNA1F constrhet 1625 R Q 1 CACNA1F:1625:Q:R ENST00000376265;NM_005183.2;NM_005183.3 X 49065843 rs782324855 C T gnomAD Exomes PASS NA p.Arg1622Gln p.Arg1622Gln c.4865G>A missense_variant 3 2.03520911773685e-05 0 0 0 0 0 2 1 0 CACNA1F constrhet 1622 Q R 1 CACNA1F:1622:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49066097 rs377551754 C T gnomAD Exomes PASS NA p.Ala1616Thr p.Ala1616Thr c.4846G>A missense_variant 2 1.35099534582103e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1616 T A 1 CACNA1F:1616:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49066108 rs782561930 C G gnomAD Exomes PASS NA p.Ser1612Thr p.Ser1612Thr c.4835G>C missense_variant 2 1.35421533378022e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1612 T S 1 CACNA1F:1612:S:T ENST00000376265;NM_005183.2;NM_005183.3 X 49066111 rs782153372 G A gnomAD Exomes PASS NA p.Pro1611Leu p.Pro1611Leu c.4832C>T missense_variant 3 2.03104795304217e-05 0 0 0 0 0 0 0 3 CACNA1F constrhet 1611 L P 1 CACNA1F:1611:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49066114 G A gnomAD Exomes PASS NA p.Ala1610Val p.Ala1610Val c.4829C>T missense_variant 2 1.35596897542984e-05 0 0 0 0 0 1 0 1 CACNA1F constrhet 1610 V A 1 CACNA1F:1610:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49066118 rs373277911 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1609Thr p.Ala1609Thr c.4825G>A missense_variant 13 8.00398968101023e-05 2 0 0 0 0 11 0 0 CACNA1F constrhet 1609 T A 1 CACNA1F:1609:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49066150 rs782373324 C T gnomAD Exomes PASS NA p.Arg1598Gln p.Arg1598Gln c.4793G>A missense_variant 3 2.01137095043982e-05 0 2 0 0 0 1 0 0 CACNA1F constrhet 1598 Q R 1 CACNA1F:1598:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49066151 rs782005032 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1598Trp p.Arg1598Trp c.4792C>T missense_variant 35 0.00021345368055132 0 35 0 0 0 0 0 0 CACNA1F constrhet 1598 W R 1 CACNA1F:1598:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49066153 rs782146463 C T gnomAD Exomes PASS NA p.Arg1597Gln p.Arg1597Gln c.4790G>A missense_variant 4 2.67780634104542e-05 2 0 0 0 0 0 0 2 CACNA1F constrhet 1597 Q R 1 CACNA1F:1597:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49066154 rs782819520 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1597Trp p.Arg1597Trp c.4789C>T missense_variant 9 5.47645125958379e-05 0 0 0 0 5 4 0 0 CACNA1F constrhet 1597 W R 1 CACNA1F:1597:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49066409 rs374468777 G A gnomAD Exomes PASS NA p.Pro1572Leu p.Pro1572Leu c.4715C>T missense_variant 3 1.97636270208309e-05 0 0 0 1 0 2 0 0 CACNA1F constrhet 1572 L P 1 CACNA1F:1572:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49066479 rs782700909 C T gnomAD Exomes PASS NA p.Glu1549Lys p.Glu1549Lys c.4645G>A missense_variant 3 1.97530864197531e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 1549 K E 1 CACNA1F:1549:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49066809 C T gnomAD Exomes PASS NA p.Ala1525Thr p.Ala1525Thr c.4573G>A missense_variant 2 1.31701117483982e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 1525 T A 1 CACNA1F:1525:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49066824 rs781896787 T C gnomAD Exomes PASS NA p.Thr1520Ala p.Thr1520Ala c.4558A>G missense_variant 4 2.63419581294576e-05 0 0 0 0 0 3 1 0 CACNA1F constrhet 1520 A T 1 CACNA1F:1520:T:A ENST00000376265;NM_005183.2;NM_005183.3 X 49067105 rs782632283 C T gnomAD Exomes PASS NA p.Arg1488His p.Arg1488His c.4463G>A missense_variant 4 2.69392923047912e-05 0 1 0 0 0 1 1 1 CACNA1F constrhet 1488 H R 1 CACNA1F:1488:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49067106 rs782266289 G A gnomAD Exomes PASS NA p.Arg1488Cys p.Arg1488Cys c.4462C>T missense_variant 5 3.36820548748038e-05 0 1 0 0 0 2 0 2 CACNA1F constrhet 1488 C R 1 CACNA1F:1488:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49067455 C G gnomAD Exomes PASS NA p.Arg1464Thr p.Arg1464Thr c.4391G>C missense_variant 2 1.38818515613613e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 1464 T R 1 CACNA1F:1464:R:T ENST00000376265;NM_005183.2;NM_005183.3 X 49067479 rs782580575 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1456His p.Pro1456His c.4367C>A missense_variant 40 0.000247895982845598 0 39 0 0 0 0 1 0 CACNA1F constrhet 1456 H P 1 CACNA1F:1456:P:H ENST00000376265;NM_005183.2;NM_005183.3 X 49067787 rs782178263 A T gnomAD Exomes PASS NA p.Phe1430Ile p.Phe1430Ile c.4288T>A missense_variant 6 3.95212657344039e-05 0 6 0 0 0 0 0 0 CACNA1F constrhet 1430 I F 1 CACNA1F:1430:F:I ENST00000376265;NM_005183.2;NM_005183.3 X 49067811 T G gnomAD Exomes PASS NA p.Ile1422Leu p.Ile1422Leu c.4264A>C missense_variant 2 1.31719332446423e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 1422 L I 1 CACNA1F:1422:I:L ENST00000376265;NM_005183.2;NM_005183.3 X 49067820 rs782741094 C T gnomAD Exomes PASS NA p.Ala1419Thr p.Ala1419Thr c.4255G>A missense_variant 3 1.97598519328428e-05 0 1 0 0 0 0 2 0 CACNA1F constrhet 1419 T A 1 CACNA1F:1419:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49067862 rs35212576 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1405Arg p.Gly1405Arg c.4213G>C missense_variant 20 0.000120045136971501 0 0 0 20 0 0 0 0 CACNA1F constrhet 1405 R G 1 CACNA1F:1405:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49067862 rs35212576 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1405Ser p.Gly1405Ser c.4213G>A missense_variant 86 0.000516194088977455 80 3 0 0 0 2 1 0 CACNA1F constrhet 1405 S G 1 CACNA1F:1405:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49067886 rs782428223 G A gnomAD Exomes PASS NA p.Arg1397Trp p.Arg1397Trp c.4189C>T missense_variant 3 1.97620647405241e-05 2 1 0 0 0 0 0 0 CACNA1F constrhet 1397 W R 1 CACNA1F:1397:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49067892 rs370863603 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1395Arg p.Gly1395Arg c.4183G>A missense_variant 5 3.00168694806481e-05 0 1 0 0 0 2 0 2 CACNA1F constrhet 1395 R G 1 CACNA1F:1395:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49067900 rs142157495 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1392Asn p.Ser1392Asn c.4175G>A missense_variant 13 7.80457348005931e-05 0 0 0 0 0 13 0 0 CACNA1F constrhet 1392 N S 1 CACNA1F:1392:S:N ENST00000376265;NM_005183.2;NM_005183.3 X 49068373 rs200903890 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1373Ala p.Val1373Ala c.4118T>C missense_variant 58 0.00034826468115768 1 9 0 0 0 44 4 0 CACNA1F constrhet 1373 A V 1 CACNA1F:1373:V:A ENST00000376265;NM_005183.2;NM_005183.3 X 49068377 rs782156786 C T gnomAD Exomes PASS NA p.Ala1372Thr p.Ala1372Thr c.4114G>A missense_variant 2 1.31873058993413e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 1372 T A 1 CACNA1F:1372:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49068406 rs375658952 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1362Gln p.Arg1362Gln c.4085G>A missense_variant 6 3.60652781534578e-05 0 2 0 0 0 2 2 0 CACNA1F constrhet 1362 Q R 1 CACNA1F:1362:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49068437 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1352Met p.Val1352Met c.4054G>A missense_variant 3 1.80751201995493e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1352 M V 1 CACNA1F:1352:V:M ENST00000376265;NM_005183.2;NM_005183.3 X 49068443 rs782780521 C T gnomAD Exomes PASS NA p.Gly1350Ser p.Gly1350Ser c.4048G>A missense_variant 6 3.97166876282518e-05 0 0 0 2 0 3 1 0 CACNA1F constrhet 1350 S G 1 CACNA1F:1350:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49068717 rs151203138 C T gnomAD Exomes PASS NA p.Val1343Ile p.Val1343Ile c.4027G>A missense_variant 2 1.33711290581377e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1343 I V 1 CACNA1F:1343:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49068744 rs372570490 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1334Val p.Ile1334Val c.4000A>G missense_variant 6 3.63636363636364e-05 0 0 0 1 0 5 0 0 CACNA1F constrhet 1334 V I 1 CACNA1F:1334:I:V ENST00000376265;NM_005183.2;NM_005183.3 X 49069137 rs782023569 T C gnomAD Exomes PASS NA p.Lys1322Arg p.Lys1322Arg c.3965A>G missense_variant 2 1.34541516148345e-05 0 0 0 1 0 1 0 0 CACNA1F constrhet 1322 R K 1 CACNA1F:1322:K:R ENST00000376265;NM_005183.2;NM_005183.3 X 49069137 rs782023569 T G gnomAD Exomes PASS NA p.Lys1322Thr p.Lys1322Thr c.3965A>C missense_variant 3 2.01812274222518e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 1322 T K 1 CACNA1F:1322:K:T ENST00000376265;NM_005183.2;NM_005183.3 X 49069162 rs782530813 G A gnomAD Exomes PASS NA p.Arg1314Cys p.Arg1314Cys c.3940C>T missense_variant 5 3.36972637821809e-05 1 0 0 1 0 3 0 0 CACNA1F constrhet 1314 C R 1 CACNA1F:1314:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49069168 rs782677479 C G gnomAD Exomes PASS NA p.Gly1312Arg p.Gly1312Arg c.3934G>C missense_variant 3 2.02118198722613e-05 0 0 0 0 0 0 0 3 CACNA1F constrhet 1312 R G 1 CACNA1F:1312:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49069174 C T gnomAD Exomes PASS NA p.Gly1310Ser p.Gly1310Ser c.3928G>A missense_variant 3 2.02198572478078e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1310 S G 1 CACNA1F:1310:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49069198 rs782005253 G A gnomAD Exomes PASS NA p.Arg1302Trp p.Arg1302Trp c.3904C>T missense_variant 2 1.35012893731351e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1302 W R 1 CACNA1F:1302:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49069201 rs200416937 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1301Leu p.Met1301Leu c.3901A>T missense_variant 5 3.05142257320363e-05 0 0 0 0 0 5 0 0 CACNA1F constrhet 1301 L M 1 CACNA1F:1301:M:L ENST00000376265;NM_005183.2;NM_005183.3 X 49069201 rs200416937 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1301Val p.Met1301Val c.3901A>G missense_variant 4 2.4411380585629e-05 1 2 0 0 0 0 1 0 CACNA1F constrhet 1301 V M 1 CACNA1F:1301:M:V ENST00000376265;NM_005183.2;NM_005183.3 X 49069236 rs782330306 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1289His p.Arg1289His c.3866G>A missense_variant 17 0.000104025798398003 0 1 1 0 1 12 1 1 CACNA1F constrhet 1289 H R 1 CACNA1F:1289:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49069436 rs782616784 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1282Lys p.Glu1282Lys c.3844G>A missense_variant 2 1.28041792841183e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 1282 K E 1 CACNA1F:1282:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49070280 rs782649613 T C gnomAD Exomes PASS NA p.Asn1275Ser p.Asn1275Ser c.3824A>G missense_variant 3 1.9780306726623e-05 1 0 0 0 0 0 0 2 CACNA1F constrhet 1275 S N 1 CACNA1F:1275:N:S ENST00000376265;NM_005183.2;NM_005183.3 X 49070293 rs782409664 C T gnomAD Exomes PASS NA p.Val1271Ile p.Val1271Ile c.3811G>A missense_variant 4 2.63874870536392e-05 1 0 0 0 0 0 0 3 CACNA1F constrhet 1271 I V 1 CACNA1F:1271:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49070314 rs782186840 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1264Ser p.Gly1264Ser c.3790G>A missense_variant 2 1.20291345639138e-05 2 0 0 0 0 0 0 0 CACNA1F constrhet 1264 S G 1 CACNA1F:1264:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49070328 rs781971954 G A gnomAD Exomes PASS NA p.Ala1259Val p.Ala1259Val c.3776C>T missense_variant 4 2.64890136815756e-05 0 4 0 0 0 0 0 0 CACNA1F constrhet 1259 V A 1 CACNA1F:1259:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49070329 rs34308720 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1259Thr p.Ala1259Thr c.3775G>A missense_variant 250 0.00150835932739241 241 6 0 0 0 1 2 0 CACNA1F constrhet 1259 T A 1 CACNA1F:1259:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49070346 rs201256297 G A gnomAD Exomes PASS NA p.Ala1253Val p.Ala1253Val c.3758C>T missense_variant 5 3.35345405767941e-05 0 0 0 4 0 1 0 0 CACNA1F constrhet 1253 V A 1 CACNA1F:1253:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49070675 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1229Leu p.Phe1229Leu c.3685T>C missense_variant 2 1.19861679621717e-05 2 0 0 0 0 0 0 0 CACNA1F constrhet 1229 L F 1 CACNA1F:1229:F:L ENST00000376265;NM_005183.2;NM_005183.3 X 49070684 rs782029623 T C gnomAD Exomes PASS NA p.Asn1226Asp p.Asn1226Asp c.3676A>G missense_variant 2 1.31738420192865e-05 1 0 0 0 0 0 0 1 CACNA1F constrhet 1226 D N 1 CACNA1F:1226:N:D ENST00000376265;NM_005183.2;NM_005183.3 X 49070694 rs138798541 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1222Ile p.Met1222Ile c.3666G>T missense_variant 13 7.79250361152571e-05 2 0 0 0 0 11 0 0 CACNA1F constrhet 1222 I M 1 CACNA1F:1222:M:I ENST00000376265;NM_005183.2;NM_005183.3 X 49070696 rs148964856 T C gnomAD Exomes PASS NA p.Met1222Val p.Met1222Val c.3664A>G missense_variant 3 1.97657104455191e-05 0 0 0 0 1 2 0 0 CACNA1F constrhet 1222 V M 1 CACNA1F:1222:M:V ENST00000376265;NM_005183.2;NM_005183.3 X 49070710 rs781815787 G A gnomAD Exomes PASS NA p.Pro1217Leu p.Pro1217Leu c.3650C>T missense_variant 2 1.318495859923e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 1217 L P 1 CACNA1F:1217:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49070711 rs782484496 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1217Ser p.Pro1217Ser c.3649C>T missense_variant 10 5.99746906805328e-05 0 0 0 0 2 8 0 0 CACNA1F constrhet 1217 S P 1 CACNA1F:1217:P:S ENST00000376265;NM_005183.2;NM_005183.3 X 49070720 rs782781746 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1214Lys p.Gln1214Lys c.3640C>A missense_variant 8 4.80166137483569e-05 0 0 0 0 7 1 0 0 CACNA1F constrhet 1214 K Q 1 CACNA1F:1214:Q:K ENST00000376265;NM_005183.2;NM_005183.3 X 49070723 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1213Lys p.Glu1213Lys c.3637G>A missense_variant 3 1.8011419239798e-05 0 0 0 2 0 0 0 1 CACNA1F constrhet 1213 K E 1 CACNA1F:1213:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49071562 rs782135065 A G gnomAD Exomes PASS NA p.Val1205Ala p.Val1205Ala c.3614T>C missense_variant 4 2.63560170786991e-05 0 0 0 0 0 0 0 4 CACNA1F constrhet 1205 A V 1 CACNA1F:1205:V:A ENST00000376265;NM_005183.2;NM_005183.3 X 49071631 rs781829718 C T gnomAD Exomes PASS NA p.Arg1182His p.Arg1182His c.3545G>A missense_variant 4 2.63579274761626e-05 0 0 0 3 0 1 0 0 CACNA1F constrhet 1182 H R 1 CACNA1F:1182:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49071632 rs782492780 G A gnomAD Exomes PASS NA p.Arg1182Cys p.Arg1182Cys c.3544C>T missense_variant 3 1.97687061381833e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1182 C R 1 CACNA1F:1182:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49071643 rs782564122 G A gnomAD Exomes PASS NA p.Pro1178Leu p.Pro1178Leu c.3533C>T missense_variant 10 6.59204472043138e-05 0 8 0 0 0 0 2 0 CACNA1F constrhet 1178 L P 1 CACNA1F:1178:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49071661 rs782553928 C T gnomAD Exomes PASS NA p.Arg1172His p.Arg1172His c.3515G>A missense_variant 4 2.63760031123684e-05 1 0 0 1 0 2 0 0 CACNA1F constrhet 1172 H R 1 CACNA1F:1172:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49071664 rs782612914 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1171His p.Arg1171His c.3512G>A missense_variant 5 3.00748261675048e-05 0 2 0 0 0 2 0 1 CACNA1F constrhet 1171 H R 1 CACNA1F:1171:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49071665 rs376061476 G A gnomAD Exomes PASS NA p.Arg1171Cys p.Arg1171Cys c.3511C>T missense_variant 6 3.96128504086726e-05 0 0 0 0 0 5 0 1 CACNA1F constrhet 1171 C R 1 CACNA1F:1171:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49071694 rs782025228 A G gnomAD Exomes PASS NA p.Val1161Ala p.Val1161Ala c.3482T>C missense_variant 5 3.31101707822609e-05 0 0 0 5 0 0 0 0 CACNA1F constrhet 1161 A V 1 CACNA1F:1161:V:A ENST00000376265;NM_005183.2;NM_005183.3 X 49071703 rs782307350 C T gnomAD Exomes PASS NA p.Arg1158His p.Arg1158His c.3473G>A missense_variant 2 1.32604011271341e-05 0 0 0 1 0 1 0 0 CACNA1F constrhet 1158 H R 1 CACNA1F:1158:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49071704 rs781935911 G A gnomAD Exomes PASS NA p.Arg1158Cys p.Arg1158Cys c.3472C>T missense_variant 3 1.98953504565983e-05 0 2 0 0 0 1 0 0 CACNA1F constrhet 1158 C R 1 CACNA1F:1158:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49071851 rs34856175 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1141His p.Arg1141His c.3422G>A missense_variant 27 0.000162906738908766 21 1 0 0 0 5 0 0 CACNA1F constrhet 1141 H R 1 CACNA1F:1141:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49071867 rs782039374 C T gnomAD Exomes PASS NA p.Val1136Ile p.Val1136Ile c.3406G>A missense_variant 3 1.98613676537766e-05 0 0 0 0 0 2 0 1 CACNA1F constrhet 1136 I V 1 CACNA1F:1136:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49071944 rs782455077 C T gnomAD Exomes PASS NA p.Arg1110His p.Arg1110His c.3329G>A missense_variant 2 1.33238290019786e-05 0 0 0 0 0 1 0 1 CACNA1F constrhet 1110 H R 1 CACNA1F:1110:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49071970 rs375326470 C G gnomAD Exomes PASS NA p.Glu1101Asp p.Glu1101Asp c.3303G>C missense_variant 27 0.000182404085851523 0 0 0 0 0 0 0 27 CACNA1F constrhet 1101 D E 1 CACNA1F:1101:E:D ENST00000376265;NM_005183.2;NM_005183.3 X 49071984 rs141623820 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1097Asn p.Asp1097Asn c.3289G>A missense_variant 11 6.94015066436169e-05 0 0 0 0 0 11 0 0 CACNA1F constrhet 1097 N D 1 CACNA1F:1097:D:N ENST00000376265;NM_005183.2;NM_005183.3 X 49072842 rs370329845 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1090Val p.Ala1090Val c.3269C>T missense_variant 14 8.48690591658584e-05 3 0 0 8 0 0 2 1 CACNA1F constrhet 1090 V A 1 CACNA1F:1090:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49072870 rs782816657 T C gnomAD Exomes PASS NA p.Thr1081Ala p.Thr1081Ala c.3241A>G missense_variant 6 3.99318496432755e-05 0 6 0 0 0 0 0 0 CACNA1F constrhet 1081 A T 1 CACNA1F:1081:T:A ENST00000376265;NM_005183.2;NM_005183.3 X 49072880 rs782690400 C T gnomAD Exomes PASS NA p.Met1077Ile p.Met1077Ile c.3231G>A missense_variant 3 2.00042675770831e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 1077 I M 1 CACNA1F:1077:M:I ENST00000376265;NM_005183.2;NM_005183.3 X 49072919 rs369354206 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1064Lys p.Asn1064Lys c.3192C>A missense_variant 7 4.33761517917449e-05 0 0 0 0 0 6 1 0 CACNA1F constrhet 1064 K N 1 CACNA1F:1064:N:K ENST00000376265;NM_005183.2;NM_005183.3 X 49072932 rs5906755 C A gnomAD Exomes PASS NA p.Arg1060Leu p.Arg1060Leu c.3179G>T missense_variant 2 1.4005209938097e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1060 L R 1 CACNA1F:1060:R:L ENST00000376265;NM_005183.2;NM_005183.3 X 49072938 rs373254725 C T gnomAD Exomes PASS NA p.Arg1058Gln p.Arg1058Gln c.3173G>A missense_variant 11 7.7498080161196e-05 1 0 0 0 0 2 1 7 CACNA1F constrhet 1058 Q R 1 CACNA1F:1058:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49072942 rs782580220 C T gnomAD Exomes PASS NA p.Val1057Ile p.Val1057Ile c.3169G>A missense_variant 2 1.41448717767373e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 1057 I V 1 CACNA1F:1057:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49074242 rs200976011 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1032Lys p.Glu1032Lys c.3094G>A missense_variant 9 5.40495093505651e-05 7 0 0 2 0 0 0 0 CACNA1F constrhet 1032 K E 1 CACNA1F:1032:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49074247 rs782236940 G A gnomAD Exomes PASS NA p.Thr1030Met p.Thr1030Met c.3089C>T missense_variant 2 1.31679439572305e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 1030 M T 1 CACNA1F:1030:T:M ENST00000376265;NM_005183.2;NM_005183.3 X 49074253 rs782589846 G T gnomAD Exomes PASS NA p.Thr1028Asn p.Thr1028Asn c.3083C>A missense_variant 2 1.31675971768672e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 1028 N T 1 CACNA1F:1028:T:N ENST00000376265;NM_005183.2;NM_005183.3 X 49074368 rs781876051 G T gnomAD Exomes PASS NA p.Gln1020Lys p.Gln1020Lys c.3058C>A missense_variant 2 1.31851324446554e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 1020 K Q 1 CACNA1F:1020:Q:K ENST00000376265;NM_005183.2;NM_005183.3 X 49074389 T A gnomAD Exomes PASS NA p.Met1013Leu p.Met1013Leu c.3037A>T missense_variant 2 1.31806139529979e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 1013 L M 1 CACNA1F:1013:M:L ENST00000376265;NM_005183.2;NM_005183.3 X 49074407 rs782693307 T C gnomAD Exomes PASS NA p.Thr1007Ala p.Thr1007Ala c.3019A>G missense_variant 4 2.63714818794955e-05 0 4 0 0 0 0 0 0 CACNA1F constrhet 1007 A T 1 CACNA1F:1007:T:A ENST00000376265;NM_005183.2;NM_005183.3 X 49074425 rs782473510 C T gnomAD Exomes PASS NA p.Gly1001Arg p.Gly1001Arg c.3001G>A missense_variant 2 1.31998389619647e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 1001 R G 1 CACNA1F:1001:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49074433 rs782241013 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg998Gln p.Arg998Gln c.2993G>A missense_variant 10 6.0177885830515e-05 0 7 0 1 0 1 0 1 CACNA1F constrhet 998 Q R 1 CACNA1F:998:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49074960 rs781881857 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg972Gln p.Arg972Gln c.2915G>A missense_variant 3 2.27262397163765e-05 0 1 0 0 0 2 0 0 CACNA1F constrhet 972 Q R 1 CACNA1F:972:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49074969 rs782194677 C A gnomAD Exomes PASS NA p.Arg969Leu p.Arg969Leu c.2906G>T missense_variant 3 2.50083361120373e-05 0 1 0 0 0 2 0 0 CACNA1F constrhet 969 L R 1 CACNA1F:969:R:L ENST00000376265;NM_005183.2;NM_005183.3 X 49074994 rs369730240 C T gnomAD Genomes NA PASS p.Ala961Thr p.Ala961Thr c.2881G>A missense_variant 2 0.000138908181691902 0 0 0 1 0 1 0 0 CACNA1F constrhet 961 T A 1 CACNA1F:961:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49075094 rs781950367 C T gnomAD Exomes PASS NA p.Gly956Asp p.Gly956Asp c.2867G>A missense_variant 3 2.16592423597023e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 956 D G 1 CACNA1F:956:G:D ENST00000376265;NM_005183.2;NM_005183.3 X 49075151 rs782092924 C T gnomAD Exomes PASS NA p.Arg937His p.Arg937His c.2810G>A missense_variant 15 0.000115020972157257 0 1 0 0 0 5 0 9 CACNA1F constrhet 937 H R 1 CACNA1F:937:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49075164 rs149685267 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly933Ser p.Gly933Ser c.2797G>A missense_variant 33 0.000241494632232947 32 0 0 0 0 1 0 0 CACNA1F constrhet 933 S G 1 CACNA1F:933:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49075787 rs139263092 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg900His p.Arg900His c.2699G>A missense_variant 5 3.11134895645356e-05 2 0 0 0 0 3 0 0 CACNA1F constrhet 900 H R 1 CACNA1F:900:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49075788 rs144099880 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg900Cys p.Arg900Cys c.2698C>T missense_variant 3 1.86516127427818e-05 1 0 0 0 0 1 1 0 CACNA1F constrhet 900 C R 1 CACNA1F:900:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49075802 rs782157619 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg895Gln p.Arg895Gln c.2684G>A missense_variant 10 6.20008928128565e-05 0 3 0 0 0 4 0 3 CACNA1F constrhet 895 Q R 1 CACNA1F:895:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49075818 rs782464083 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala890Thr p.Ala890Thr c.2668G>A missense_variant 91 0.000564292092469491 0 86 0 1 0 3 1 0 CACNA1F constrhet 890 T A 1 CACNA1F:890:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49075839 rs782734370 G A gnomAD Exomes PASS NA p.Leu883Phe p.Leu883Phe c.2647C>T missense_variant 2 1.36257417513166e-05 1 0 0 0 0 1 0 0 CACNA1F constrhet 883 F L 1 CACNA1F:883:L:F ENST00000376265;NM_005183.2;NM_005183.3 X 49076192 rs781938466 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly826Val p.Gly826Val c.2477G>T missense_variant lcr 4 2.88473327034999e-05 0 0 0 0 0 4 0 0 CACNA1F constrhet 826 V G 1 CACNA1F:826:G:V ENST00000376265;NM_005183.2;NM_005183.3 X 49076209 rs146516514 C A gnomAD Exomes PASS NA p.Glu820Asp p.Glu820Asp c.2460G>T missense_variant lcr 3 2.72881078426022e-05 3 0 0 0 0 0 0 0 CACNA1F constrhet 820 D E 1 CACNA1F:820:E:D ENST00000376265;NM_005183.2;NM_005183.3 X 49076247 rs781889554 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met808Leu p.Met808Leu c.2422A>T missense_variant 3 2.59520060900708e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 808 L M 1 CACNA1F:808:M:L ENST00000376265;NM_005183.2;NM_005183.3 X 49076943 rs781954106 C T gnomAD Exomes PASS NA p.Arg803Lys p.Arg803Lys c.2408G>A missense_variant 3 2.02768465448253e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 803 K R 1 CACNA1F:803:R:K ENST00000376265;NM_005183.2;NM_005183.3 X 49076952 rs782102814 C A gnomAD Exomes PASS NA p.Gly800Val p.Gly800Val c.2399G>T missense_variant 3 2.02420954617222e-05 0 0 0 0 0 2 1 0 CACNA1F constrhet 800 V G 1 CACNA1F:800:G:V ENST00000376265;NM_005183.2;NM_005183.3 X 49076976 C T gnomAD Exomes PASS NA p.Gly792Asp p.Gly792Asp c.2375G>A missense_variant 2 1.34631177888175e-05 0 0 0 0 2 0 0 0 CACNA1F constrhet 792 D G 1 CACNA1F:792:G:D ENST00000376265;NM_005183.2;NM_005183.3 X 49077498 rs782183517 C A gnomAD Exomes PASS NA p.Gly788Val p.Gly788Val c.2363G>T missense_variant 2 1.32465244431492e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 788 V G 1 CACNA1F:788:G:V ENST00000376265;NM_005183.2;NM_005183.3 X 49077518 A T gnomAD Exomes PASS NA p.Asp781Glu p.Asp781Glu c.2343T>A missense_variant 3 1.98961421380394e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 781 E D 1 CACNA1F:781:D:E ENST00000376265;NM_005183.2;NM_005183.3 X 49079179 rs141159097 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn746Thr p.Asn746Thr c.2237A>C missense_variant 252 0.00151639146969624 1 35 5 0 17 182 9 3 CACNA1F constrhet 746 T N 1 CACNA1F:746:N:T ENST00000376265;NM_005183.2;NM_005183.3 X 49079201 rs782794008 T C gnomAD Exomes PASS NA p.Ile739Val p.Ile739Val c.2215A>G missense_variant 3 1.9792443245169e-05 3 0 0 0 0 0 0 0 CACNA1F constrhet 739 V I 1 CACNA1F:739:I:V ENST00000376265;NM_005183.2;NM_005183.3 X 49079232 rs782557144 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe728Leu p.Phe728Leu c.2184C>A missense_variant 7 4.20117632937222e-05 0 0 0 7 0 0 0 0 CACNA1F constrhet 728 L F 1 CACNA1F:728:F:L ENST00000376265;NM_005183.2;NM_005183.3 X 49079255 rs782701503 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile721Val p.Ile721Val c.2161A>G missense_variant 9 5.40183662445231e-05 0 9 0 0 0 0 0 0 CACNA1F constrhet 721 V I 1 CACNA1F:721:I:V ENST00000376265;NM_005183.2;NM_005183.3 X 49079288 rs376156915 C T gnomAD Exomes PASS NA p.Gly710Ser p.Gly710Ser c.2128G>A missense_variant 2 1.31735816992603e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 710 S G 1 CACNA1F:710:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49079411 G T gnomAD Exomes PASS NA p.Gln699Lys p.Gln699Lys c.2095C>A missense_variant 2 1.45215863380916e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 699 K Q 1 CACNA1F:699:Q:K ENST00000376265;NM_005183.2;NM_005183.3 X 49079434 rs781925366 C T gnomAD Exomes PASS NA p.Arg691Gln p.Arg691Gln c.2072G>A missense_variant 4 3.02107958278891e-05 0 0 0 0 0 4 0 0 CACNA1F constrhet 691 Q R 1 CACNA1F:691:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49079494 rs143938580 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser671Cys p.Ser671Cys c.2012C>G missense_variant 243 0.0016164223186015 0 9 11 120 60 13 11 19 CACNA1F constrhet 671 C S 1 CACNA1F:671:S:C ENST00000376265;NM_005183.2;NM_005183.3 X 49079537 C T gnomAD Exomes PASS NA p.Ala657Thr p.Ala657Thr c.1969G>A missense_variant 5 3.58886017800747e-05 0 2 0 1 0 1 0 1 CACNA1F constrhet 657 T A 1 CACNA1F:657:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49079554 rs782572450 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn651Ser p.Asn651Ser c.1952A>G missense_variant 4 2.58740580225751e-05 3 0 0 0 0 0 0 1 CACNA1F constrhet 651 S N 1 CACNA1F:651:N:S ENST00000376265;NM_005183.2;NM_005183.3 X 49079569 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val646Gly p.Val646Gly c.1937T>G missense_variant 3 1.97454157726381e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 646 G V 1 CACNA1F:646:V:G ENST00000376265;NM_005183.2;NM_005183.3 X 49081230 rs141010716 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val635Ile p.Val635Ile c.1903G>A missense_variant 266 0.00215552170107938 6 20 0 0 6 221 10 3 CACNA1F constrhet 635 I V 1 CACNA1F:635:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49081250 rs200585761 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg628His p.Arg628His c.1883G>A missense_variant 4 2.98864315600717e-05 0 1 0 0 0 3 0 0 CACNA1F constrhet 628 H R 1 CACNA1F:628:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49081256 rs781856183 C T gnomAD Exomes PASS NA p.Cys626Tyr p.Cys626Tyr c.1877G>A missense_variant 2 1.62727309710752e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 626 Y C 1 CACNA1F:626:C:Y ENST00000376265;NM_005183.2;NM_005183.3 X 49081259 rs782123232 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg625Gln p.Arg625Gln c.1874G>A missense_variant 2 1.44190908763202e-05 1 0 0 0 0 1 0 0 CACNA1F constrhet 625 Q R 1 CACNA1F:625:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49081290 rs150417702 C T gnomAD Exomes PASS NA p.Ala615Thr p.Ala615Thr c.1843G>A missense_variant 4 2.98098133905682e-05 2 1 0 0 0 1 0 0 CACNA1F constrhet 615 T A 1 CACNA1F:615:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49081292 C T gnomAD Exomes PASS NA p.Gly614Asp p.Gly614Asp c.1841G>A missense_variant 2 1.48458260959931e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 614 D G 1 CACNA1F:614:G:D ENST00000376265;NM_005183.2;NM_005183.3 X 49081296 rs782580564 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val613Leu p.Val613Leu c.1837G>T missense_variant 3 1.98604472572722e-05 0 0 0 0 1 2 0 0 CACNA1F constrhet 613 L V 1 CACNA1F:613:V:L ENST00000376265;NM_005183.2;NM_005183.3 X 49081322 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly604Asp p.Gly604Asp c.1811G>A missense_variant 4 2.53678335870117e-05 0 0 0 0 0 2 2 0 CACNA1F constrhet 604 D G 1 CACNA1F:604:G:D ENST00000376265;NM_005183.2;NM_005183.3 X 49081328 rs782273072 C T gnomAD Exomes PASS NA p.Cys602Tyr p.Cys602Tyr c.1805G>A missense_variant 4 2.76176338592191e-05 0 0 0 0 0 0 0 4 CACNA1F constrhet 602 Y C 1 CACNA1F:602:C:Y ENST00000376265;NM_005183.2;NM_005183.3 X 49081342 rs782416106 G T gnomAD Exomes PASS NA p.Asp597Glu p.Asp597Glu c.1791C>A missense_variant 2 1.35640119634586e-05 0 0 0 0 2 0 0 0 CACNA1F constrhet 597 E D 1 CACNA1F:597:D:E ENST00000376265;NM_005183.2;NM_005183.3 X 49081349 rs781913575 C T gnomAD Exomes PASS NA p.Arg595His p.Arg595His c.1784G>A missense_variant 4 2.69901890662744e-05 1 2 0 0 0 0 0 1 CACNA1F constrhet 595 H R 1 CACNA1F:595:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49081349 rs781913575 C A gnomAD Exomes PASS NA p.Arg595Leu p.Arg595Leu c.1784G>T missense_variant 3 2.02426417997058e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 595 L R 1 CACNA1F:595:R:L ENST00000376265;NM_005183.2;NM_005183.3 X 49081350 G A gnomAD Exomes PASS NA p.Arg595Cys p.Arg595Cys c.1783C>T missense_variant 3 2.02298106489723e-05 1 0 0 0 0 1 0 1 CACNA1F constrhet 595 C R 1 CACNA1F:595:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49081365 rs782186759 A G gnomAD Exomes PASS NA p.Ser590Pro p.Ser590Pro c.1768T>C missense_variant 3 2.01120913893433e-05 0 0 0 0 2 1 0 0 CACNA1F constrhet 590 P S 1 CACNA1F:590:S:P ENST00000376265;NM_005183.2;NM_005183.3 X 49081383 rs782016284 C T gnomAD Exomes PASS NA p.Gly584Ser p.Gly584Ser c.1750G>A missense_variant 5 3.3527794541675e-05 1 0 0 0 0 0 0 4 CACNA1F constrhet 584 S G 1 CACNA1F:584:G:S ENST00000376265;NM_005183.2;NM_005183.3 X 49081415 rs377121355 G A gnomAD Exomes PASS NA p.Thr573Met p.Thr573Met c.1718C>T missense_variant 4 2.72711777739901e-05 2 0 0 1 0 0 0 1 CACNA1F constrhet 573 M T 1 CACNA1F:573:T:M ENST00000376265;NM_005183.2;NM_005183.3 X 49082401 rs782273369 C T gnomAD Exomes PASS NA p.Gly552Arg p.Gly552Arg c.1654G>A missense_variant 4 4.02965828497743e-05 0 0 0 4 0 0 0 0 CACNA1F constrhet 552 R G 1 CACNA1F:552:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49082416 rs781923856 C T gnomAD Exomes PASS NA p.Ala547Thr p.Ala547Thr c.1639G>A missense_variant 2 1.99545037314922e-05 0 0 0 0 0 1 0 1 CACNA1F constrhet 547 T A 1 CACNA1F:547:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49082436 rs782119108 A T gnomAD Exomes PASS NA p.Phe540Tyr p.Phe540Tyr c.1619T>A missense_variant 4 3.8768705900597e-05 0 0 0 0 0 4 0 0 CACNA1F constrhet 540 Y F 1 CACNA1F:540:F:Y ENST00000376265;NM_005183.2;NM_005183.3 X 49082454 rs781895360 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala534Val p.Ala534Val c.1601C>T missense_variant 8 6.39156313665961e-05 0 0 0 6 0 1 0 1 CACNA1F constrhet 534 V A 1 CACNA1F:534:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49082476 rs782658565 T C gnomAD Exomes PASS NA p.Lys527Glu p.Lys527Glu c.1579A>G missense_variant 23 0.000197628458498024 0 0 0 0 0 0 0 23 CACNA1F constrhet 527 E K 1 CACNA1F:527:K:E ENST00000376265;NM_005183.2;NM_005183.3 X 49082479 rs781818336 C T gnomAD Exomes PASS NA p.Val526Met p.Val526Met c.1576G>A missense_variant 2 1.71165465655649e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 526 M V 1 CACNA1F:526:V:M ENST00000376265;NM_005183.2;NM_005183.3 X 49082485 rs142532762 G A gnomAD Exomes PASS NA p.Arg524Trp p.Arg524Trp c.1570C>T missense_variant 5 4.22415031216471e-05 4 0 0 0 0 1 0 0 CACNA1F constrhet 524 W R 1 CACNA1F:524:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49082487 rs146847449 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg523His p.Arg523His c.1568G>A missense_variant 96 0.000720661206657108 18 0 0 69 0 3 0 6 CACNA1F constrhet 523 H R 1 CACNA1F:523:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49082487 rs146847449 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg523Leu p.Arg523Leu c.1568G>T missense_variant 3 2.25206627080346e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 523 L R 1 CACNA1F:523:R:L ENST00000376265;NM_005183.2;NM_005183.3 X 49082488 rs782544445 G A gnomAD Exomes PASS NA p.Arg523Cys p.Arg523Cys c.1567C>T missense_variant 2 1.67703634137752e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 523 C R 1 CACNA1F:523:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49082488 rs782544445 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg523Gly p.Arg523Gly c.1567C>G missense_variant 2 1.49289382539114e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 523 G R 1 CACNA1F:523:R:G ENST00000376265;NM_005183.2;NM_005183.3 X 49082490 rs782673687 C T gnomAD Exomes PASS NA p.Cys522Tyr p.Cys522Tyr c.1565G>A missense_variant 2 1.67511202311655e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 522 Y C 1 CACNA1F:522:C:Y ENST00000376265;NM_005183.2;NM_005183.3 X 49082494 rs139331137 G A gnomAD Exomes PASS NA p.Arg521Cys p.Arg521Cys c.1561C>T missense_variant 52 0.000433977065981205 3 0 0 0 0 0 0 49 CACNA1F constrhet 521 C R 1 CACNA1F:521:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49082499 rs34162630 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg519Gln p.Arg519Gln c.1556G>A missense_variant 2358 0.0174518003182474 41 76 12 0 399 1442 80 308 CACNA1F constrhet 519 Q R 1 CACNA1F:519:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49082508 rs782235108 C T gnomAD Exomes PASS NA p.Arg516Gln p.Arg516Gln c.1547G>A missense_variant 2 1.65484829178285e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 516 Q R 1 CACNA1F:516:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49082509 rs782202134 G A gnomAD Exomes PASS NA p.Arg516Trp p.Arg516Trp c.1546C>T missense_variant 2 1.6484784543866e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 516 W R 1 CACNA1F:516:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49082509 rs782202134 G C gnomAD Exomes PASS NA p.Arg516Gly p.Arg516Gly c.1546C>G missense_variant 5 4.1211961359665e-05 0 0 0 0 0 5 0 0 CACNA1F constrhet 516 G R 1 CACNA1F:516:R:G ENST00000376265;NM_005183.2;NM_005183.3 X 49082520 rs782150503 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg512His p.Arg512His c.1535G>A missense_variant 2 1.49690514860526e-05 2 0 0 0 0 0 0 0 CACNA1F constrhet 512 H R 1 CACNA1F:512:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49082526 rs782290338 C T gnomAD Exomes PASS NA p.Arg510His p.Arg510His c.1529G>A missense_variant 2 1.66846026144772e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 510 H R 1 CACNA1F:510:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49082529 rs782740156 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg509His p.Arg509His c.1526G>A missense_variant 15 0.0001122275675797 1 1 1 0 0 11 1 0 CACNA1F constrhet 509 H R 1 CACNA1F:509:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49082530 rs781843314 G A gnomAD Exomes PASS NA p.Arg509Cys p.Arg509Cys c.1525C>T missense_variant 5 4.17289122941721e-05 0 2 0 0 0 0 0 3 CACNA1F constrhet 509 C R 1 CACNA1F:509:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49082877 rs377163402 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg497His p.Arg497His c.1490G>A missense_variant 3 2.31717490036148e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 497 H R 1 CACNA1F:497:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49082877 rs377163402 C A gnomAD Exomes PASS NA p.Arg497Leu p.Arg497Leu c.1490G>T missense_variant 2 1.74408971597499e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 497 L R 1 CACNA1F:497:R:L ENST00000376265;NM_005183.2;NM_005183.3 X 49082899 rs201059988 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly490Arg p.Gly490Arg c.1468G>A missense_variant 89 0.000664417104634496 0 3 66 0 0 15 5 0 CACNA1F constrhet 490 R G 1 CACNA1F:490:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49082903 rs782501197 C A gnomAD Exomes PASS NA p.Glu488Asp p.Glu488Asp c.1464G>T missense_variant 3 2.49737775335897e-05 0 0 0 3 0 0 0 0 CACNA1F constrhet 488 D E 1 CACNA1F:488:E:D ENST00000376265;NM_005183.2;NM_005183.3 X 49082952 rs2272704 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala472Val p.Ala472Val c.1415C>T missense_variant 35 0.000263625681660691 0 0 0 35 0 0 0 0 CACNA1F constrhet 472 V A 1 CACNA1F:472:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49083098 rs782571580 C T gnomAD Exomes PASS NA p.Arg459His p.Arg459His c.1376G>A missense_variant 7 6.21520594528843e-05 0 0 0 0 7 0 0 0 CACNA1F constrhet 459 H R 1 CACNA1F:459:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49083099 rs782299485 G T gnomAD Exomes PASS NA p.Arg459Ser p.Arg459Ser c.1375C>A missense_variant 2 1.77364715063585e-05 0 0 0 1 0 1 0 0 CACNA1F constrhet 459 S R 1 CACNA1F:459:R:S ENST00000376265;NM_005183.2;NM_005183.3 X 49083099 rs782299485 G A gnomAD Exomes PASS NA p.Arg459Cys p.Arg459Cys c.1375C>T missense_variant 2 1.77364715063585e-05 0 0 0 0 0 1 0 1 CACNA1F constrhet 459 C R 1 CACNA1F:459:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49083119 C T gnomAD Genomes NA PASS p.Arg452His p.Arg452His c.1355G>A missense_variant 2 0.000134363453140746 2 0 0 0 0 0 0 0 CACNA1F constrhet 452 H R 1 CACNA1F:452:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49083131 rs782781755 C T gnomAD Exomes PASS NA p.Arg448His p.Arg448His c.1343G>A missense_variant 3 2.65583087668977e-05 0 0 0 0 0 1 0 2 CACNA1F constrhet 448 H R 1 CACNA1F:448:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49083150 rs367617777 C T gnomAD Exomes PASS NA p.Glu442Lys p.Glu442Lys c.1324G>A missense_variant 7 6.40867184853562e-05 1 4 0 0 0 1 0 1 CACNA1F constrhet 442 K E 1 CACNA1F:442:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49083155 rs141155959 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu440Pro p.Leu440Pro c.1319T>C missense_variant 45 0.000364673657595747 1 0 0 0 0 44 0 0 CACNA1F constrhet 440 P L 1 CACNA1F:440:L:P ENST00000376265;NM_005183.2;NM_005183.3 X 49083410 rs782399050 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg433Gln p.Arg433Gln c.1298G>A missense_variant 3 1.81209756333281e-05 0 0 0 2 0 1 0 0 CACNA1F constrhet 433 Q R 1 CACNA1F:433:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49083411 G A gnomAD Exomes PASS NA p.Arg433Trp p.Arg433Trp c.1297C>T missense_variant 2 1.3265854354185e-05 0 0 0 0 0 1 0 1 CACNA1F constrhet 433 W R 1 CACNA1F:433:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49083424 C A gnomAD Genomes NA PASS p.Met428Ile p.Met428Ile c.1284G>T missense_variant 2 0.000133815067576609 0 0 0 0 0 2 0 0 CACNA1F constrhet 428 I M 1 CACNA1F:428:M:I ENST00000376265;NM_005183.2;NM_005183.3 X 49083447 rs782053409 C T gnomAD Exomes PASS NA p.Ala421Thr p.Ala421Thr c.1261G>A missense_variant 5 3.30438690405382e-05 0 3 0 0 0 1 0 1 CACNA1F constrhet 421 T A 1 CACNA1F:421:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49083474 rs781837189 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu412Lys p.Glu412Lys c.1234G>A missense_variant 3 1.81172548735416e-05 1 0 0 1 0 1 0 0 CACNA1F constrhet 412 K E 1 CACNA1F:412:E:K ENST00000376265;NM_005183.2;NM_005183.3 X 49083504 rs368387863 G A gnomAD Exomes PASS NA p.Arg402Trp p.Arg402Trp c.1204C>T missense_variant 4 2.71157027034356e-05 0 0 0 2 0 1 1 0 CACNA1F constrhet 402 W R 1 CACNA1F:402:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49083533 rs782650423 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg392Gln p.Arg392Gln c.1175G>A missense_variant 14 9.09108618999071e-05 0 0 11 0 0 1 1 1 CACNA1F constrhet 392 Q R 1 CACNA1F:392:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49083552 rs782315613 C T gnomAD Exomes PASS NA p.Gly386Arg p.Gly386Arg c.1156G>A missense_variant 3 2.39858004061596e-05 1 1 0 0 0 0 1 0 CACNA1F constrhet 386 R G 1 CACNA1F:386:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49083569 rs782231472 T G gnomAD Exomes PASS NA p.Glu380Ala p.Glu380Ala c.1139A>C missense_variant 2 1.74006855870121e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 380 A E 1 CACNA1F:380:E:A ENST00000376265;NM_005183.2;NM_005183.3 X 49084529 rs782540789 C T gnomAD Exomes PASS NA p.Val363Ile p.Val363Ile c.1087G>A missense_variant 5 3.30246628181926e-05 0 4 0 0 1 0 0 0 CACNA1F constrhet 363 I V 1 CACNA1F:363:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49084579 rs782197348 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu346Gly p.Glu346Gly c.1037A>G missense_variant 4 2.40839083366449e-05 1 2 0 0 0 1 0 0 CACNA1F constrhet 346 G E 1 CACNA1F:346:E:G ENST00000376265;NM_005183.2;NM_005183.3 X 49084727 rs375892410 C T gnomAD Exomes PASS NA p.Asp334Asn p.Asp334Asn c.1000G>A missense_variant 2 1.32632151359811e-05 0 0 0 0 0 0 1 1 CACNA1F constrhet 334 N D 1 CACNA1F:334:D:N ENST00000376265;NM_005183.2;NM_005183.3 X 49084735 rs782295388 C G gnomAD Exomes PASS NA p.Gly331Ala p.Gly331Ala c.992G>C missense_variant 2 1.32520540683806e-05 2 0 0 0 0 0 0 0 CACNA1F constrhet 331 A G 1 CACNA1F:331:G:A ENST00000376265;NM_005183.2;NM_005183.3 X 49084767 rs782531308 C T gnomAD Exomes PASS NA p.Met320Ile p.Met320Ile c.960G>A missense_variant 2 1.32709598221691e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 320 I M 1 CACNA1F:320:M:I ENST00000376265;NM_005183.2;NM_005183.3 X 49084772 rs146010954 C T gnomAD Exomes PASS NA p.Ala319Thr p.Ala319Thr c.955G>A missense_variant 5 3.32195011759703e-05 0 0 0 0 0 5 0 0 CACNA1F constrhet 319 T A 1 CACNA1F:319:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49084774 rs201174690 A G gnomAD Exomes PASS NA p.Phe318Ser p.Phe318Ser c.953T>C missense_variant 12 7.96627609785243e-05 1 0 0 0 0 11 0 0 CACNA1F constrhet 318 S F 1 CACNA1F:318:F:S ENST00000376265;NM_005183.2;NM_005183.3 X 49084807 rs782180501 T C gnomAD Exomes PASS NA p.Asn307Ser p.Asn307Ser c.920A>G missense_variant 9 6.00504423715921e-05 0 0 0 2 0 5 0 2 CACNA1F constrhet 307 S N 1 CACNA1F:307:N:S ENST00000376265;NM_005183.2;NM_005183.3 X 49084822 rs782137742 C T gnomAD Exomes PASS NA p.Arg302His p.Arg302His c.905G>A missense_variant 4 2.69572659940829e-05 1 0 0 0 0 2 0 1 CACNA1F constrhet 302 H R 1 CACNA1F:302:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49084823 rs139612152 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg302Cys p.Arg302Cys c.904C>T missense_variant 23 0.000140934826833991 18 3 0 0 0 2 0 0 CACNA1F constrhet 302 C R 1 CACNA1F:302:R:C ENST00000376265;NM_005183.2;NM_005183.3 X 49084828 C T gnomAD Exomes PASS NA p.Arg300His p.Arg300His c.899G>A missense_variant 3 2.02665729900626e-05 0 2 0 1 0 0 0 0 CACNA1F constrhet 300 H R 1 CACNA1F:300:R:H ENST00000376265;NM_005183.2;NM_005183.3 X 49084849 rs781786897 G A gnomAD Exomes PASS NA p.Thr293Met p.Thr293Met c.878C>T missense_variant 2 1.36682043396549e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 293 M T 1 CACNA1F:293:T:M ENST00000376265;NM_005183.2;NM_005183.3 X 49084868 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly287Arg p.Gly287Arg c.859G>C missense_variant 2 1.25493345715343e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 287 R G 1 CACNA1F:287:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49084870 G A gnomAD Exomes PASS NA p.Ser286Leu p.Ser286Leu c.857C>T missense_variant 3 2.08415831266543e-05 0 0 0 2 0 0 1 0 CACNA1F constrhet 286 L S 1 CACNA1F:286:S:L ENST00000376265;NM_005183.2;NM_005183.3 X 49084876 rs782280160 G A gnomAD Exomes PASS NA p.Ala284Val p.Ala284Val c.851C>T missense_variant 2 1.41067599593725e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 284 V A 1 CACNA1F:284:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49084885 rs149735591 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser281Leu p.Ser281Leu c.842C>T missense_variant 16 0.000103416626808175 0 1 0 0 1 13 1 0 CACNA1F constrhet 281 L S 1 CACNA1F:281:S:L ENST00000376265;NM_005183.2;NM_005183.3 X 49084900 rs184711457 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala276Val p.Ala276Val c.827C>T missense_variant 104 0.000702512834369089 0 0 0 0 72 32 0 0 CACNA1F constrhet 276 V A 1 CACNA1F:276:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49084907 T A gnomAD Exomes PASS NA p.Met274Leu p.Met274Leu c.820A>T missense_variant 2 1.54643160906209e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 274 L M 1 CACNA1F:274:M:L ENST00000376265;NM_005183.2;NM_005183.3 X 49086688 rs185809548 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly271Arg p.Gly271Arg c.811G>A missense_variant 79 0.000513767672957611 1 10 7 0 3 50 4 4 CACNA1F constrhet 271 R G 1 CACNA1F:271:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49086704 rs145632023 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys265Asn p.Lys265Asn c.795G>C missense_variant 4 2.56160663968441e-05 0 0 0 0 0 4 0 0 CACNA1F constrhet 265 N K 1 CACNA1F:265:K:N ENST00000376265;NM_005183.2;NM_005183.3 X 49086738 rs202029187 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile254Thr p.Ile254Thr c.761T>C missense_variant 13 8.21448656299563e-05 4 2 0 0 0 5 0 2 CACNA1F constrhet 254 T I 1 CACNA1F:254:I:T ENST00000376265;NM_005183.2;NM_005183.3 X 49086757 rs782366870 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile248Val p.Ile248Val c.742A>G missense_variant 6 3.76107165468347e-05 0 0 0 5 0 0 0 1 CACNA1F constrhet 248 V I 1 CACNA1F:248:I:V ENST00000376265;NM_005183.2;NM_005183.3 X 49086760 rs782216598 C G gnomAD Exomes PASS NA p.Val247Leu p.Val247Leu c.739G>C missense_variant 3 2.07536336153522e-05 0 0 0 2 0 1 0 0 CACNA1F constrhet 247 L V 1 CACNA1F:247:V:L ENST00000376265;NM_005183.2;NM_005183.3 X 49086931 rs782377005 G C gnomAD Exomes PASS NA p.Pro221Arg p.Pro221Arg c.662C>G missense_variant 2 1.38911076074651e-05 1 0 0 0 0 1 0 0 CACNA1F constrhet 221 R P 1 CACNA1F:221:P:R ENST00000376265;NM_005183.2;NM_005183.3 X 49086976 rs782163584 C T gnomAD Exomes PASS NA p.Arg206Lys p.Arg206Lys c.617G>A missense_variant 2 1.41997046461434e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 206 K R 1 CACNA1F:206:R:K ENST00000376265;NM_005183.2;NM_005183.3 X 49086983 rs781874465 C T gnomAD Exomes PASS NA p.Ala204Thr p.Ala204Thr c.610G>A missense_variant 2 1.45263326094378e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 204 T A 1 CACNA1F:204:A:T ENST00000376265;NM_005183.2;NM_005183.3 X 49086992 rs782497901 C T gnomAD Exomes PASS NA p.Asp201Asn p.Asp201Asn c.601G>A missense_variant 6 4.52263579213966e-05 0 0 0 0 0 0 0 6 CACNA1F constrhet 201 N D 1 CACNA1F:201:D:N ENST00000376265;NM_005183.2;NM_005183.3 X 49087358 rs145391935 T C gnomAD Exomes PASS NA p.Ile159Val p.Ile159Val c.475A>G missense_variant 3 2.50756448620004e-05 2 0 0 0 0 1 0 0 CACNA1F constrhet 159 V I 1 CACNA1F:159:I:V ENST00000376265;NM_005183.2;NM_005183.3 X 49087403 rs782077194 G A gnomAD Exomes PASS NA p.Leu144Phe p.Leu144Phe c.430C>T missense_variant 2 1.50042011763294e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 144 F L 1 CACNA1F:144:L:F ENST00000376265;NM_005183.2;NM_005183.3 X 49087406 rs782724058 C T gnomAD Exomes PASS NA p.Val143Met p.Val143Met c.427G>A missense_variant 2 1.4893807154985e-05 0 0 0 0 0 2 0 0 CACNA1F constrhet 143 M V 1 CACNA1F:143:V:M ENST00000376265;NM_005183.2;NM_005183.3 X 49087436 rs782774526 C T gnomAD Exomes PASS NA p.Val133Ile p.Val133Ile c.397G>A missense_variant 3 2.1568768423323e-05 0 0 0 0 0 3 0 0 CACNA1F constrhet 133 I V 1 CACNA1F:133:V:I ENST00000376265;NM_005183.2;NM_005183.3 X 49087675 rs367849166 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn124Asp p.Asn124Asp c.370A>G missense_variant 7 6.18965090368903e-05 0 0 0 0 0 7 0 0 CACNA1F constrhet 124 D N 1 CACNA1F:124:N:D ENST00000376265;NM_005183.2;NM_005183.3 X 49087686 rs782044984 G C gnomAD Exomes PASS NA p.Ser120Cys p.Ser120Cys c.359C>G missense_variant 2 2.0197735833813e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 120 C S 1 CACNA1F:120:S:C ENST00000376265;NM_005183.2;NM_005183.3 X 49087700 rs782406586 G C gnomAD Exomes PASS NA p.Phe115Leu p.Phe115Leu c.345C>G missense_variant 4 3.99736174125077e-05 0 1 0 0 0 3 0 0 CACNA1F constrhet 115 L F 1 CACNA1F:115:F:L ENST00000376265;NM_005183.2;NM_005183.3 X 49087743 rs782006674 G A gnomAD Exomes PASS NA p.Thr101Ile p.Thr101Ile c.302C>T missense_variant 2 2.00196192268423e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 101 I T 1 CACNA1F:101:T:I ENST00000376265;NM_005183.2;NM_005183.3 X 49088142 rs781960727 C G gnomAD Exomes PASS NA p.Trp91Cys p.Trp91Cys c.273G>C missense_variant 34 0.000224937645961377 0 0 0 0 0 0 0 34 CACNA1F constrhet 91 C W 1 CACNA1F:91:W:C ENST00000376265;NM_005183.2;NM_005183.3 X 49088143 rs782478480 C A gnomAD Exomes PASS NA p.Trp91Leu p.Trp91Leu c.272G>T missense_variant 3 1.98480959059994e-05 0 3 0 0 0 0 0 0 CACNA1F constrhet 91 L W 1 CACNA1F:91:W:L ENST00000376265;NM_005183.2;NM_005183.3 X 49088164 rs186181553 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser84Tyr p.Ser84Tyr c.251C>A missense_variant 65 0.000390592137680724 0 1 0 0 0 1 2 61 CACNA1F constrhet 84 Y S 1 CACNA1F:84:S:Y ENST00000376265;NM_005183.2;NM_005183.3 X 49088167 rs782263474 C T gnomAD Exomes PASS NA p.Arg83Gln p.Arg83Gln c.248G>A missense_variant 3 1.98039409842559e-05 0 1 0 0 0 1 0 1 CACNA1F constrhet 83 Q R 1 CACNA1F:83:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49088168 rs782384281 G A gnomAD Exomes PASS NA p.Arg83Trp p.Arg83Trp c.247C>T missense_variant 4 2.64045574266118e-05 0 0 0 1 0 0 0 3 CACNA1F constrhet 83 W R 1 CACNA1F:83:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49088182 rs781975294 G A gnomAD Exomes PASS NA p.Ala78Val p.Ala78Val c.233C>T missense_variant 5 3.29778323011272e-05 0 0 0 0 0 0 1 4 CACNA1F constrhet 78 V A 1 CACNA1F:78:A:V ENST00000376265;NM_005183.2;NM_005183.3 X 49088206 rs781923569 C T gnomAD Exomes PASS NA p.Arg70Gln p.Arg70Gln c.209G>A missense_variant 5 3.30865079837744e-05 0 0 0 1 0 4 0 0 CACNA1F constrhet 70 Q R 1 CACNA1F:70:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49088215 rs782791425 C T gnomAD Exomes PASS NA p.Arg67Gln p.Arg67Gln c.200G>A missense_variant 4 2.66448179159756e-05 0 0 0 0 0 1 0 3 CACNA1F constrhet 67 Q R 1 CACNA1F:67:R:Q ENST00000376265;NM_005183.2;NM_005183.3 X 49088216 rs200079715 G A gnomAD Exomes PASS NA p.Arg67Trp p.Arg67Trp c.199C>T missense_variant 6 4.01582234001968e-05 1 0 0 1 1 3 0 0 CACNA1F constrhet 67 W R 1 CACNA1F:67:R:W ENST00000376265;NM_005183.2;NM_005183.3 X 49088224 rs782109777 C G gnomAD Exomes PASS NA p.Ser64Thr p.Ser64Thr c.191G>C missense_variant 2 1.34838126828742e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 64 T S 1 CACNA1F:64:S:T ENST00000376265;NM_005183.2;NM_005183.3 X 49088240 rs782151803 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr59Ala p.Thr59Ala c.175A>G missense_variant 10 6.0282725984869e-05 0 2 0 0 0 8 0 0 CACNA1F constrhet 59 A T 1 CACNA1F:59:T:A ENST00000376265;NM_005183.2;NM_005183.3 X 49088273 rs782524571 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro48Thr p.Pro48Thr c.142C>A missense_variant 13 8.26893108163979e-05 0 7 0 0 0 5 1 0 CACNA1F constrhet 48 T P 1 CACNA1F:48:P:T ENST00000376265;NM_005183.2;NM_005183.3 X 49088284 C T gnomAD Exomes PASS NA p.Gly44Asp p.Gly44Asp c.131G>A missense_variant 2 1.46944293418365e-05 0 0 0 2 0 0 0 0 CACNA1F constrhet 44 D G 1 CACNA1F:44:G:D ENST00000376265;NM_005183.2;NM_005183.3 X 49088314 G T gnomAD Exomes PASS NA p.Ala34Asp p.Ala34Asp c.101C>A missense_variant 3 2.49014318323304e-05 1 2 0 0 0 0 0 0 CACNA1F constrhet 34 D A 1 CACNA1F:34:A:D ENST00000376265;NM_005183.2;NM_005183.3 X 49088321 rs201893500 G A gnomAD Exomes PASS NA p.Pro32Ser p.Pro32Ser c.94C>T missense_variant 2 1.7303882125955e-05 0 0 0 1 0 1 0 0 CACNA1F constrhet 32 S P 1 CACNA1F:32:P:S ENST00000376265;NM_005183.2;NM_005183.3 X 49088324 rs782426237 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly31Arg p.Gly31Arg c.91G>A missense_variant 6 4.66189599310039e-05 0 2 0 0 0 4 0 0 CACNA1F constrhet 31 R G 1 CACNA1F:31:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49088374 rs6520408 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro14Leu p.Pro14Leu c.41C>T missense_variant 2262 0.0186459818815791 1897 149 2 0 0 19 24 171 CACNA1F constrhet 14 L P 1 CACNA1F:14:P:L ENST00000376265;NM_005183.2;NM_005183.3 X 49088375 rs201861911 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro14Ser p.Pro14Ser c.40C>T missense_variant 2 1.65510849236167e-05 1 1 0 0 0 0 0 0 CACNA1F constrhet 14 S P 1 CACNA1F:14:P:S ENST00000376265;NM_005183.2;NM_005183.3 X 49088375 rs201861911 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro14Thr p.Pro14Thr c.40C>A missense_variant 24 0.000198613019083401 0 0 0 0 0 18 0 6 CACNA1F constrhet 14 T P 1 CACNA1F:14:P:T ENST00000376265;NM_005183.2;NM_005183.3 X 49088383 rs782698402 G A gnomAD Exomes PASS NA p.Thr11Ile p.Thr11Ile c.32C>T missense_variant 2 1.9075414651826e-05 0 0 0 0 0 0 0 2 CACNA1F constrhet 11 I T 1 CACNA1F:11:T:I ENST00000376265;NM_005183.2;NM_005183.3 X 49089756 C G gnomAD Exomes PASS NA p.Gly6Arg p.Gly6Arg c.16G>C missense_variant 2 1.31707188578353e-05 0 2 0 0 0 0 0 0 CACNA1F constrhet 6 R G 1 CACNA1F:6:G:R ENST00000376265;NM_005183.2;NM_005183.3 X 49089767 rs782518630 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2Leu p.Ser2Leu c.5C>T missense_variant 3 1.80169359197646e-05 0 0 0 0 0 2 0 1 CACNA1F constrhet 2 L S 1 CACNA1F:2:S:L ENST00000376265;NM_005183.2;NM_005183.3 2 166152356 rs747139785 C T gnomAD Exomes PASS NA p.Pro8Leu p.Pro8Leu c.23C>T missense_variant 2 9.61815908435126e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 8 L P 1 SCN2A:8:P:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152377 rs773482307 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg15His p.Arg15His c.44G>A missense_variant 10 4.36189794903558e-05 0 8 0 0 0 2 0 0 SCN2A constrhet 15 H R 1 SCN2A:15:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152389 rs17183814 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg19Lys p.Arg19Lys c.56G>A missense_variant 19200 0.0837893744599513 589 3988 401 2190 761 7173 408 3690 SCN2A constrhet 19 K R 1 SCN2A:19:R:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152403 rs527452801 G A gnomAD Exomes PASS NA p.Ala24Thr p.Ala24Thr c.70G>A missense_variant 108 0.000519255733448723 0 0 0 0 0 0 1 107 SCN2A constrhet 24 T A 1 SCN2A:24:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152415 rs200884216 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg28Cys p.Arg28Cys c.82C>T missense_variant 62 0.000270482505889538 2 3 0 0 0 53 1 3 SCN2A constrhet 28 C R 1 SCN2A:28:R:C ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152416 rs1007052146 G A gnomAD Exomes PASS NA p.Arg28His p.Arg28His c.83G>A missense_variant 3 1.44264060937139e-05 0 0 0 0 0 1 0 2 SCN2A constrhet 28 H R 1 SCN2A:28:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152433 rs144814658 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala34Thr p.Ala34Thr c.100G>A missense_variant 138 0.000602146784187102 5 34 23 0 9 60 7 0 SCN2A constrhet 34 T A 1 SCN2A:34:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152442 rs763906285 C T gnomAD Exomes PASS NA p.Pro37Ser p.Pro37Ser c.109C>T missense_variant 3 1.44272386265269e-05 0 0 0 0 0 0 0 3 SCN2A constrhet 37 S P 1 SCN2A:37:P:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152455 rs754993031 G A gnomAD Exomes PASS NA p.Arg41His p.Arg41His c.122G>A missense_variant 3 1.44282100362629e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 41 H R 1 SCN2A:41:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166152478 rs773605666 G A gnomAD Exomes PASS NA p.Gly49Ser p.Gly49Ser c.145G>A missense_variant 2 9.61778906265028e-06 0 2 0 0 0 0 0 0 SCN2A constrhet 49 S G 1 SCN2A:49:G:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166153559 rs750257815 C G gnomAD Exomes PASS NA p.Ile100Met p.Ile100Met c.300C>G missense_variant 2 9.70129706341738e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 100 M I 1 SCN2A:100:I:M ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166153620 rs374951365 T G gnomAD Exomes PASS NA p.Leu121Val p.Leu121Val c.361T>G missense_variant 2 9.69979145448373e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 121 V L 1 SCN2A:121:L:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166164384 rs764044312 C T gnomAD Exomes PASS NA p.Thr138Met p.Thr138Met c.413C>T missense_variant segdup 2 9.61335102189921e-06 0 0 0 0 0 1 0 1 SCN2A constrhet 138 M T 1 SCN2A:138:T:M ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166164422 rs200109956 C T gnomAD Exomes PASS NA p.Pro151Ser p.Pro151Ser c.451C>T missense_variant segdup 4 1.9226886878611e-05 0 0 0 0 0 4 0 0 SCN2A constrhet 151 S P 1 SCN2A:151:P:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166165261 rs121917748 C T gnomAD Exomes PASS NA p.Arg188Trp p.Arg188Trp c.562C>T missense_variant segdup 4 1.92594732534065e-05 0 0 0 0 0 4 0 0 SCN2A constrhet 188 W R 1 SCN2A:188:R:W ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166165298 rs202234412 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr200Ser p.Thr200Ser c.599C>G missense_variant segdup 4 1.74831287807266e-05 0 0 0 0 0 4 0 0 SCN2A constrhet 200 S T 1 SCN2A:200:T:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166165900 rs149024364 C T gnomAD Exomes PASS NA p.Ala215Val p.Ala215Val c.644C>T missense_variant segdup 2 9.61446014806269e-06 0 0 0 1 0 0 1 0 SCN2A constrhet 215 V A 1 SCN2A:215:A:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166166985 rs772774164 G C gnomAD Exomes PASS NA p.Asp284His p.Asp284His c.850G>C missense_variant 9 4.32654866405792e-05 0 0 0 0 0 0 0 9 SCN2A constrhet 284 H D 1 SCN2A:284:D:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166166994 rs1034704734 T C gnomAD Exomes PASS NA p.Ser287Pro p.Ser287Pro c.859T>C missense_variant 2 9.6150148071228e-06 0 2 0 0 0 0 0 0 SCN2A constrhet 287 P S 1 SCN2A:287:S:P ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166166999 rs1008008564 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe288Leu p.Phe288Leu c.864T>G missense_variant 4 1.74486573258188e-05 1 0 0 0 0 3 0 0 SCN2A constrhet 288 L F 1 SCN2A:288:F:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166167009 rs762484444 A G gnomAD Exomes PASS NA p.Ile292Val p.Ile292Val c.874A>G missense_variant 2 9.6158469157171e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 292 V I 1 SCN2A:292:I:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166167027 rs754706708 A G gnomAD Exomes PASS NA p.Asn298Asp p.Asn298Asp c.892A>G missense_variant 2 9.62130541871921e-06 0 1 0 0 0 0 1 0 SCN2A constrhet 298 D N 1 SCN2A:298:N:D ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166167058 rs753821498 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn308Ser p.Asn308Ser c.923A>G missense_variant 7 3.05853155530699e-05 2 0 0 0 0 2 0 3 SCN2A constrhet 308 S N 1 SCN2A:308:N:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166167072 rs780130675 A G gnomAD Exomes PASS NA p.Ile313Val p.Ile313Val c.937A>G missense_variant 2 9.64757411748816e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 313 V I 1 SCN2A:313:I:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166167087 rs149987700 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu318Lys p.Glu318Lys c.952G>A missense_variant 29 0.000127248793330408 0 2 0 0 0 27 0 0 SCN2A constrhet 318 K E 1 SCN2A:318:E:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166168546 rs781204054 T G gnomAD Exomes PASS NA p.Phe328Val p.Phe328Val c.982T>G missense_variant segdup 13 6.27068118892115e-05 0 1 0 11 0 0 1 0 SCN2A constrhet 328 V F 1 SCN2A:328:F:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166170260 rs761665229 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu389Val p.Leu389Val c.1165C>G missense_variant segdup 3 1.308386759126e-05 0 3 0 0 0 0 0 0 SCN2A constrhet 389 V L 1 SCN2A:389:L:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166170443 rs773029348 T C gnomAD Exomes PASS NA p.Ile403Thr p.Ile403Thr c.1208T>C missense_variant segdup 7 3.36409073433295e-05 0 0 0 0 0 0 0 7 SCN2A constrhet 403 T I 1 SCN2A:403:I:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166170590 rs368212942 A G gnomAD Exomes PASS NA p.Gln452Arg p.Gln452Arg c.1355A>G missense_variant segdup 4 1.92559500885774e-05 0 0 0 0 0 4 0 0 SCN2A constrhet 452 R Q 1 SCN2A:452:Q:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166170599 rs752013832 A G gnomAD Exomes PASS NA p.Lys455Arg p.Lys455Arg c.1364A>G missense_variant segdup 2 9.63539659292376e-06 0 0 0 0 0 1 0 1 SCN2A constrhet 455 R K 1 SCN2A:455:K:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166170611 rs184769423 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu459Ala p.Glu459Ala c.1376A>C missense_variant segdup 32 0.000140042537920893 19 2 0 0 1 6 1 3 SCN2A constrhet 459 A E 1 SCN2A:459:E:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166170617 rs780709903 A G gnomAD Exomes PASS NA p.Gln461Arg p.Gln461Arg c.1382A>G missense_variant segdup 2 9.66734660337777e-06 0 0 0 0 0 0 0 2 SCN2A constrhet 461 R Q 1 SCN2A:461:Q:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166171982 rs769825203 C T gnomAD Exomes PASS NA p.Ala462Val p.Ala462Val c.1385C>T missense_variant 6 2.92115794701019e-05 0 2 0 0 0 4 0 0 SCN2A constrhet 462 V A 1 SCN2A:462:A:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166171996 rs745774658 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala467Thr p.Ala467Thr c.1399G>A missense_variant 12 5.28858019250432e-05 0 6 0 3 0 1 0 2 SCN2A constrhet 467 T A 1 SCN2A:467:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172014 rs770000484 G C gnomAD Exomes PASS NA p.Asp473His p.Asp473His c.1417G>C missense_variant 12 5.8296007695073e-05 0 0 0 0 0 0 0 12 SCN2A constrhet 473 H D 1 SCN2A:473:D:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172033 rs763114190 G T gnomAD Exomes PASS NA p.Gly479Val p.Gly479Val c.1436G>T missense_variant 3 1.45721613429704e-05 0 0 0 3 0 0 0 0 SCN2A constrhet 479 V G 1 SCN2A:479:G:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172062 rs753203934 G A gnomAD Exomes PASS NA p.Val489Ile p.Val489Ile c.1465G>A missense_variant 3 1.4573010784028e-05 0 0 0 1 0 0 0 2 SCN2A constrhet 489 I V 1 SCN2A:489:V:I ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172081 rs140661535 C A gnomAD Exomes PASS NA p.Ser495Tyr p.Ser495Tyr c.1484C>A missense_variant 2 9.72091259927482e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 495 Y S 1 SCN2A:495:S:Y ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172087 rs778749930 G A gnomAD Exomes PASS NA p.Ser497Asn p.Ser497Asn c.1490G>A missense_variant 4 1.94442824087577e-05 0 0 0 0 0 4 0 0 SCN2A constrhet 497 N S 1 SCN2A:497:S:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172101 rs1418215188 A G gnomAD Exomes PASS NA p.Lys502Glu p.Lys502Glu c.1504A>G missense_variant lcr 2 9.7245047795941e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 502 E K 1 SCN2A:502:K:E ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172155 rs746957483 A T gnomAD Exomes PASS NA p.Asn520Tyr p.Asn520Tyr c.1558A>T missense_variant lcr 5 2.42911832721196e-05 0 2 0 0 0 3 0 0 SCN2A constrhet 520 Y N 1 SCN2A:520:N:Y ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172168 rs186154973 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg524Gln p.Arg524Gln c.1571G>A missense_variant 30 0.000132105049935709 0 0 0 25 0 1 0 4 SCN2A constrhet 524 Q R 1 SCN2A:524:R:Q ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172209 rs775923587 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg538Cys p.Arg538Cys c.1612C>T missense_variant 4 1.76598882129076e-05 0 1 0 0 0 2 0 1 SCN2A constrhet 538 C R 1 SCN2A:538:R:C ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172210 rs761203730 G A gnomAD Exomes PASS NA p.Arg538His p.Arg538His c.1613G>A missense_variant 4 1.94912776532502e-05 0 0 0 0 0 2 0 2 SCN2A constrhet 538 H R 1 SCN2A:538:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172229 rs1168248222 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser544Arg p.Ser544Arg c.1632T>G missense_variant 2 8.82791740600475e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 544 R S 1 SCN2A:544:S:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166172258 rs764865753 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser554Phe p.Ser554Phe c.1661C>T missense_variant 4 1.77407193861711e-05 0 2 0 1 0 0 1 0 SCN2A constrhet 554 F S 1 SCN2A:554:S:F ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179682 rs773059303 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg563His p.Arg563His c.1688G>A missense_variant segdup 2 8.73675289841777e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 563 H R 1 SCN2A:563:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179705 rs750049844 C T gnomAD Exomes PASS NA p.Arg571Cys p.Arg571Cys c.1711C>T missense_variant segdup 6 2.88503149492715e-05 1 1 0 1 0 1 0 2 SCN2A constrhet 571 C R 1 SCN2A:571:R:C ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179706 rs138138150 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg571His p.Arg571His c.1712G>A missense_variant segdup 20 8.72410032715376e-05 2 0 0 0 0 17 0 1 SCN2A constrhet 571 H R 1 SCN2A:571:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179749 rs370685828 G C gnomAD Exomes PASS NA p.Lys585Asn p.Lys585Asn c.1755G>C missense_variant segdup 2 9.61039460280239e-06 2 0 0 0 0 0 0 0 SCN2A constrhet 585 N K 1 SCN2A:585:K:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179753 rs148275498 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile587Leu p.Ile587Leu c.1759A>C missense_variant segdup 10 4.35953998134117e-05 0 0 0 0 0 10 0 0 SCN2A constrhet 587 L I 1 SCN2A:587:I:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179831 rs769069833 G A gnomAD Exomes PASS NA p.Val613Met p.Val613Met c.1837G>A missense_variant segdup 5 2.4028988571813e-05 0 2 0 1 0 0 0 2 SCN2A constrhet 613 M V 1 SCN2A:613:V:M ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179832 rs776945957 T C gnomAD Exomes PASS NA p.Val613Ala p.Val613Ala c.1838T>C missense_variant segdup 3 1.44164231892972e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 613 A V 1 SCN2A:613:V:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179835 rs143734912 C T gnomAD Exomes PASS NA p.Pro614Leu p.Pro614Leu c.1841C>T missense_variant segdup 8 3.84485990291729e-05 0 1 0 3 0 4 0 0 SCN2A constrhet 614 L P 1 SCN2A:614:P:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179840 rs772896106 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg616Gly p.Arg616Gly c.1846A>G missense_variant 3 1.30819277528737e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 616 G R 1 SCN2A:616:R:G ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179852 rs762680220 C T gnomAD Exomes PASS NA p.Arg620Trp p.Arg620Trp c.1858C>T missense_variant 4 1.92331733774414e-05 0 0 0 0 4 0 0 0 SCN2A constrhet 620 W R 1 SCN2A:620:R:W ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179883 rs150040573 G A gnomAD Exomes PASS NA p.Arg630His p.Arg630His c.1889G>A missense_variant 5 2.40611345306154e-05 2 2 0 0 0 0 1 0 SCN2A constrhet 630 H R 1 SCN2A:630:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179893 rs1367730932 G T gnomAD Exomes PASS NA p.Arg633Ser p.Arg633Ser c.1899G>T missense_variant 2 9.62556550197324e-06 0 0 0 0 0 0 0 2 SCN2A constrhet 633 S R 1 SCN2A:633:R:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179894 rs752534435 G T gnomAD Exomes PASS NA p.Val634Leu p.Val634Leu c.1900G>T missense_variant 5 2.40611345306154e-05 0 0 0 0 0 0 0 5 SCN2A constrhet 634 L V 1 SCN2A:634:V:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179895 rs756119996 T C gnomAD Exomes PASS NA p.Val634Ala p.Val634Ala c.1901T>C missense_variant 2 9.6236202134519e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 634 A V 1 SCN2A:634:V:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179898 rs558887330 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu635Pro p.Leu635Pro c.1904T>C missense_variant 13 5.67586447782047e-05 0 0 0 13 0 0 0 0 SCN2A constrhet 635 P L 1 SCN2A:635:L:P ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179933 rs548056312 G A gnomAD Exomes PASS NA p.Ala647Thr p.Ala647Thr c.1939G>A missense_variant 8 3.85795027102101e-05 0 0 0 0 0 1 0 7 SCN2A constrhet 647 T A 1 SCN2A:647:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179970 rs368887417 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly659Asp p.Gly659Asp c.1976G>A missense_variant 26 0.00011447390435265 0 0 9 0 0 14 3 0 SCN2A constrhet 659 D G 1 SCN2A:659:G:D ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179970 rs368887417 G T gnomAD Exomes PASS NA p.Gly659Val p.Gly659Val c.1976G>T missense_variant 3 1.45723029096031e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 659 V G 1 SCN2A:659:G:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166179999 rs766470088 C T gnomAD Exomes PASS NA p.Leu669Phe p.Leu669Phe c.2005C>T missense_variant 9 4.45968445254896e-05 0 0 0 0 0 0 0 9 SCN2A constrhet 669 F L 1 SCN2A:669:L:F ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183368 rs371601218 A G gnomAD Exomes PASS NA p.Thr675Ala p.Thr675Ala c.2023A>G missense_variant 3 1.44157304450617e-05 2 0 0 0 0 1 0 0 SCN2A constrhet 675 A T 1 SCN2A:675:T:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183369 rs565098344 C G gnomAD Exomes PASS NA p.Thr675Ser p.Thr675Ser c.2024C>G missense_variant 5 2.40262174084361e-05 0 0 0 0 0 0 0 5 SCN2A constrhet 675 S T 1 SCN2A:675:T:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183391 rs756493732 G T gnomAD Exomes PASS NA p.Lys682Asn p.Lys682Asn c.2046G>T missense_variant 3 1.44151762976061e-05 0 0 2 0 0 0 0 1 SCN2A constrhet 682 N K 1 SCN2A:682:K:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183395 rs200783308 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg684Trp p.Arg684Trp c.2050C>T missense_variant 37 0.000161310011684077 2 2 0 0 15 16 1 1 SCN2A constrhet 684 W R 1 SCN2A:684:R:W ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183396 rs146949852 G A gnomAD Exomes PASS NA p.Arg684Gln p.Arg684Gln c.2051G>A missense_variant 5 2.40257556100139e-05 0 0 0 0 0 4 0 1 SCN2A constrhet 684 Q R 1 SCN2A:684:R:Q ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183419 rs771488290 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met692Val p.Met692Val c.2074A>G missense_variant 6 2.61574679571018e-05 0 0 0 0 0 6 0 0 SCN2A constrhet 692 V M 1 SCN2A:692:M:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183447 rs776452983 G A gnomAD Exomes PASS NA p.Arg701Lys p.Arg701Lys c.2102G>A missense_variant 2 9.60993282656954e-06 0 0 0 0 1 1 0 0 SCN2A constrhet 701 K R 1 SCN2A:701:R:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166183464 rs768699825 A T gnomAD Exomes PASS NA p.Ile707Leu p.Ile707Leu c.2119A>T missense_variant 3 1.44154533660084e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 707 L I 1 SCN2A:707:I:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166187908 rs1404927721 G A gnomAD Exomes PASS NA p.Asp740Asn p.Asp740Asn c.2218G>A missense_variant 2 9.61316619241713e-06 0 0 0 0 2 0 0 0 SCN2A constrhet 740 N D 1 SCN2A:740:D:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166187909 rs747869260 A G gnomAD Exomes PASS NA p.Asp740Gly p.Asp740Gly c.2219A>G missense_variant 4 1.92261475606825e-05 0 4 0 0 0 0 0 0 SCN2A constrhet 740 G D 1 SCN2A:740:D:G ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166187926 rs772195737 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu746Val p.Leu746Val c.2236T>G missense_variant 2 8.72136123006079e-06 1 0 0 0 0 1 0 0 SCN2A constrhet 746 V L 1 SCN2A:746:L:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166198806 rs142128956 G A gnomAD Exomes PASS NA p.Val797Ile p.Val797Ile c.2389G>A missense_variant segdup 9 4.32654866405792e-05 8 0 0 0 0 1 0 0 SCN2A constrhet 797 I V 1 SCN2A:797:V:I ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166198845 rs541567737 A T gnomAD Exomes PASS NA p.Ile810Leu p.Ile810Leu c.2428A>T missense_variant segdup 2 9.61104116408931e-06 0 0 0 0 0 0 0 2 SCN2A constrhet 810 L I 1 SCN2A:810:I:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166201225 rs2228980 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys908Arg p.Lys908Arg c.2723A>G missense_variant segdup 996 0.00434191253400293 17 99 12 0 18 683 30 137 SCN2A constrhet 908 R K 1 SCN2A:908:K:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166201249 rs763684457 A G gnomAD Exomes PASS NA p.Asn916Ser p.Asn916Ser c.2747A>G missense_variant segdup 4 1.92183881537855e-05 0 1 0 0 0 1 1 1 SCN2A constrhet 916 S N 1 SCN2A:916:N:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166201362 rs749485469 G A gnomAD Genomes NA PASS p.Ala954Thr p.Ala954Thr c.2860G>A missense_variant segdup 3 0.0001411366202484 0 0 0 0 0 3 0 0 SCN2A constrhet 954 T A 1 SCN2A:954:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210819 rs780508905 G A gnomAD Exomes PASS NA p.Gly1013Arg p.Gly1013Arg c.3037G>A missense_variant segdup 2 9.61298137004211e-06 0 2 0 0 0 0 0 0 SCN2A constrhet 1013 R G 1 SCN2A:1013:G:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210825 rs747451714 G A gnomAD Exomes PASS NA p.Asp1015Asn p.Asp1015Asn c.3043G>A missense_variant segdup 2 9.6142752759297e-06 0 0 0 0 0 1 0 1 SCN2A constrhet 1015 N D 1 SCN2A:1015:D:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210825 rs747451714 G C gnomAD Exomes PASS NA p.Asp1015His p.Asp1015His c.3043G>C missense_variant segdup 2 9.6142752759297e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 1015 H D 1 SCN2A:1015:D:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210831 rs769267899 G C gnomAD Exomes PASS NA p.Val1017Leu p.Val1017Leu c.3049G>C missense_variant segdup 3 1.44221062043901e-05 0 3 0 0 0 0 0 0 SCN2A constrhet 1017 L V 1 SCN2A:1017:V:L ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210847 rs376774884 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1022His p.Arg1022His c.3065G>A missense_variant segdup 3 1.30868355159267e-05 2 1 0 0 0 0 0 0 SCN2A constrhet 1022 H R 1 SCN2A:1022:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210847 rs376774884 G C gnomAD Exomes PASS NA p.Arg1022Pro p.Arg1022Pro c.3065G>C missense_variant segdup 2 9.61640173479887e-06 0 0 0 0 0 1 0 1 SCN2A constrhet 1022 P R 1 SCN2A:1022:R:P ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210850 rs1411722259 A G gnomAD Exomes PASS NA p.Glu1023Gly p.Glu1023Gly c.3068A>G missense_variant segdup 2 9.61667916834959e-06 0 0 0 2 0 0 0 0 SCN2A constrhet 1023 G E 1 SCN2A:1023:E:G ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210865 rs553589945 C G gnomAD Exomes PASS NA p.Ala1028Gly p.Ala1028Gly c.3083C>G missense_variant segdup 3 1.44290427773022e-05 0 0 0 0 0 0 0 3 SCN2A constrhet 1028 G A 1 SCN2A:1028:A:G ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210884 rs772956132 A C gnomAD Exomes PASS NA p.Lys1034Asn p.Lys1034Asn c.3102A>C missense_variant segdup 2 9.62297195865971e-06 0 1 0 0 0 0 1 0 SCN2A constrhet 1034 N K 1 SCN2A:1034:K:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210885 rs762703948 G A gnomAD Exomes PASS NA p.Ala1035Thr p.Ala1035Thr c.3103G>A missense_variant segdup 3 1.44345968417102e-05 0 0 0 0 0 1 0 2 SCN2A constrhet 1035 T A 1 SCN2A:1035:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210965 rs151204987 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1061Met p.Ile1061Met c.3183A>G missense_variant segdup 2 8.72136123006079e-06 2 0 0 0 0 0 0 0 SCN2A constrhet 1061 M I 1 SCN2A:1061:I:M ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210972 rs769395683 G T gnomAD Exomes PASS NA p.Asp1064Tyr p.Asp1064Tyr c.3190G>T missense_variant segdup 6 2.88361720942751e-05 0 6 0 0 0 0 0 0 SCN2A constrhet 1064 Y D 1 SCN2A:1064:D:Y ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166210978 rs748876017 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1066His p.Asn1066His c.3196A>C missense_variant segdup 5 2.17996006313164e-05 1 0 0 0 0 4 0 0 SCN2A constrhet 1066 H N 1 SCN2A:1066:N:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166211041 rs765278777 G A gnomAD Exomes PASS NA p.Val1087Met p.Val1087Met c.3259G>A missense_variant segdup 2 9.61076405574243e-06 0 2 0 0 0 0 0 0 SCN2A constrhet 1087 M V 1 SCN2A:1087:V:M ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166211042 rs1457881200 T C gnomAD Exomes PASS NA p.Val1087Ala p.Val1087Ala c.3260T>C missense_variant segdup 4 1.92213433796888e-05 0 0 0 1 0 3 0 0 SCN2A constrhet 1087 A V 1 SCN2A:1087:V:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166211138 rs756738916 C T gnomAD Exomes PASS NA p.Thr1119Ile p.Thr1119Ile c.3356C>T missense_variant segdup 3 1.44701047635585e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 1119 I T 1 SCN2A:1119:T:I ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166211171 rs1160491617 A C gnomAD Exomes PASS NA p.Glu1130Ala p.Glu1130Ala c.3389A>C missense_variant segdup 2 9.68372939786571e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 1130 A E 1 SCN2A:1130:E:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166221699 rs771772014 G C gnomAD Exomes PASS NA p.Gly1149Ala p.Gly1149Ala c.3446G>C missense_variant 6 2.88295214299443e-05 0 0 0 0 0 6 0 0 SCN2A constrhet 1149 A G 1 SCN2A:1149:G:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166221707 rs766523968 G A gnomAD Exomes PASS NA p.Ala1152Thr p.Ala1152Thr c.3454G>A missense_variant 10 4.80478171876652e-05 0 0 0 4 0 1 0 5 SCN2A constrhet 1152 T A 1 SCN2A:1152:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166221710 rs200138205 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1153Lys p.Glu1153Lys c.3457G>A missense_variant 39 0.000170022059272306 0 0 0 0 0 37 1 1 SCN2A constrhet 1153 K E 1 SCN2A:1153:E:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166221710 rs200138205 G C gnomAD Exomes PASS NA p.Glu1153Gln p.Glu1153Gln c.3457G>C missense_variant 8 3.84382537501321e-05 0 0 0 0 0 1 0 7 SCN2A constrhet 1153 Q E 1 SCN2A:1153:E:Q ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166221738 rs201124054 A T gnomAD Exomes PASS NA p.Glu1162Val p.Glu1162Val c.3485A>T missense_variant 9 4.32430354688987e-05 0 0 0 0 0 9 0 0 SCN2A constrhet 1162 V E 1 SCN2A:1162:E:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166223735 rs115231482 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1177Trp p.Arg1177Trp c.3529C>T missense_variant 8 3.48875747902385e-05 0 0 0 0 0 7 1 0 SCN2A constrhet 1177 W R 1 SCN2A:1177:R:W ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166223762 rs1433862850 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1186Val p.Ile1186Val c.3556A>G missense_variant 2 8.71961215165149e-06 0 0 0 1 0 1 0 0 SCN2A constrhet 1186 V I 1 SCN2A:1186:I:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166223772 rs540994733 G A gnomAD Exomes PASS NA p.Gly1189Asp p.Gly1189Asp c.3566G>A missense_variant segdup 11 5.28561543784116e-05 0 0 0 0 0 1 0 10 SCN2A constrhet 1189 D G 1 SCN2A:1189:G:D ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166223804 rs765909421 A G gnomAD Exomes PASS NA p.Thr1200Ala p.Thr1200Ala c.3598A>G missense_variant segdup 4 1.92213433796888e-05 0 2 0 0 0 2 0 0 SCN2A constrhet 1200 A T 1 SCN2A:1200:T:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166223876 rs780330020 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1224Ser p.Ala1224Ser c.3670G>T missense_variant 7 3.05202392786759e-05 0 0 0 0 1 5 1 0 SCN2A constrhet 1224 S A 1 SCN2A:1224:A:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166226649 rs777751518 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1230Thr p.Ile1230Thr c.3689T>C missense_variant 4 1.74486573258188e-05 0 0 0 1 0 3 0 0 SCN2A constrhet 1230 T I 1 SCN2A:1230:I:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166226661 rs757322474 A G gnomAD Exomes PASS NA p.Gln1234Arg p.Gln1234Arg c.3701A>G missense_variant 3 1.44183632274064e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 1234 R Q 1 SCN2A:1234:Q:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166226763 rs774849906 T A gnomAD Exomes PASS NA p.Val1268Glu p.Val1268Glu c.3803T>A missense_variant 2 9.60974812850155e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 1268 E V 1 SCN2A:1268:V:E ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166229856 rs761654525 G A gnomAD Exomes PASS NA p.Arg1324Lys p.Arg1324Lys c.3971G>A missense_variant 2 9.61482991365883e-06 0 2 0 0 0 0 0 0 SCN2A constrhet 1324 K R 1 SCN2A:1324:R:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166231316 rs762800170 A G gnomAD Exomes PASS NA p.His1365Arg p.His1365Arg c.4094A>G missense_variant 5 2.40396172892928e-05 0 0 0 0 0 2 0 3 SCN2A constrhet 1365 R H 1 SCN2A:1365:H:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166231343 rs555250264 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1374Lys p.Met1374Lys c.4121T>A missense_variant 2 8.72585120678522e-06 2 0 0 0 0 0 0 0 SCN2A constrhet 1374 K M 1 SCN2A:1374:M:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166231357 rs779140322 G A gnomAD Exomes PASS NA p.Val1379Met p.Val1379Met c.4135G>A missense_variant 5 2.4049098639783e-05 0 0 0 2 1 1 1 0 SCN2A constrhet 1379 M V 1 SCN2A:1379:V:M ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166231391 rs758703434 T C gnomAD Exomes PASS NA p.Ile1390Thr p.Ile1390Thr c.4169T>C missense_variant 2 9.62324977144782e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 1390 T I 1 SCN2A:1390:I:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166231409 rs914316483 C T gnomAD Exomes PASS NA p.Ala1396Val p.Ala1396Val c.4187C>T missense_variant 2 9.62639943781827e-06 0 2 0 0 0 0 0 0 SCN2A constrhet 1396 V A 1 SCN2A:1396:A:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166237207 rs368657915 A G gnomAD Exomes PASS NA p.Ile1472Val p.Ile1472Val c.4414A>G missense_variant segdup 5 2.42339643857659e-05 0 4 0 0 0 1 0 0 SCN2A constrhet 1472 V I 1 SCN2A:1472:I:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166243269 rs147522594 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1522Ala p.Gly1522Ala c.4565G>C missense_variant segdup 204 0.000890689673239141 1 10 10 0 3 23 4 153 SCN2A constrhet 1522 A G 1 SCN2A:1522:G:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245342 rs755159786 A G gnomAD Exomes PASS NA p.Ile1676Val p.Ile1676Val c.5026A>G missense_variant segdup 3 1.4416561746134e-05 0 0 0 0 0 3 0 0 SCN2A constrhet 1676 V I 1 SCN2A:1676:I:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245524 rs200016923 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1736Glu p.Asp1736Glu c.5208T>G missense_variant segdup 29 0.000126431068909292 0 0 0 0 26 2 1 0 SCN2A constrhet 1736 E D 1 SCN2A:1736:D:E ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245680 rs199925238 G T gnomAD Exomes PASS NA p.Glu1788Asp p.Glu1788Asp c.5364G>T missense_variant segdup 2 9.61409041090622e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 1788 D E 1 SCN2A:1788:E:D ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245706 rs765273814 T C gnomAD Exomes PASS NA p.Met1797Thr p.Met1797Thr c.5390T>C missense_variant segdup 3 1.44203037877331e-05 0 0 0 3 0 0 0 0 SCN2A constrhet 1797 T M 1 SCN2A:1797:M:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245738 rs767541516 G A gnomAD Exomes PASS NA p.Asp1808Asn p.Asp1808Asn c.5422G>A missense_variant segdup 2 9.61178019781044e-06 0 0 0 1 0 1 0 0 SCN2A constrhet 1808 N D 1 SCN2A:1808:D:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245749 rs143238782 G C gnomAD Exomes PASS NA p.Gln1811His p.Gln1811His c.5433G>C missense_variant segdup 2 9.61178019781044e-06 2 0 0 0 0 0 0 0 SCN2A constrhet 1811 H Q 1 SCN2A:1811:Q:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245762 rs147084515 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1816Ser p.Ala1816Ser c.5446G>T missense_variant segdup 37 0.000161335333310078 33 1 0 0 0 1 1 1 SCN2A constrhet 1816 S A 1 SCN2A:1816:A:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245783 rs779516339 G A gnomAD Exomes PASS NA p.Asp1823Asn p.Asp1823Asn c.5467G>A missense_variant segdup 5 2.40271410585397e-05 0 0 0 0 0 0 0 5 SCN2A constrhet 1823 N D 1 SCN2A:1823:D:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245784 rs138497939 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1823Ala p.Asp1823Ala c.5468A>C missense_variant segdup 55 0.000239810244693653 0 0 0 38 1 12 1 3 SCN2A constrhet 1823 A D 1 SCN2A:1823:D:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245864 rs769442306 G A gnomAD Exomes PASS NA p.Asp1850Asn p.Asp1850Asn c.5548G>A missense_variant segdup 4 1.92235603956209e-05 0 0 0 0 0 4 0 0 SCN2A constrhet 1850 N D 1 SCN2A:1850:D:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245905 rs760733246 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1863Asn p.Lys1863Asn c.5589G>C missense_variant segdup 5 2.18037833924943e-05 0 0 0 5 0 0 0 0 SCN2A constrhet 1863 N K 1 SCN2A:1863:K:N ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166245936 rs753977894 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1874Thr p.Ala1874Thr c.5620G>A missense_variant segdup 5 2.18068264089391e-05 0 0 0 0 0 5 0 0 SCN2A constrhet 1874 T A 1 SCN2A:1874:A:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246020 rs367833365 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1902Cys p.Arg1902Cys c.5704C>T missense_variant segdup 8 3.49015775513053e-05 2 0 1 0 1 4 0 0 SCN2A constrhet 1902 C R 1 SCN2A:1902:R:C ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246021 rs747710683 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1902His p.Arg1902His c.5705G>A missense_variant segdup 12 5.23519095359003e-05 4 7 0 0 0 1 0 0 SCN2A constrhet 1902 H R 1 SCN2A:1902:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246042 rs772819993 C T gnomAD Exomes PASS NA p.Ala1909Val p.Ala1909Val c.5726C>T missense_variant segdup 3 1.44283488197611e-05 0 0 1 0 0 2 0 0 SCN2A constrhet 1909 V A 1 SCN2A:1909:A:V ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246068 rs139899756 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1918Cys p.Arg1918Cys c.5752C>T missense_variant segdup 20 8.72684114531063e-05 3 1 0 0 0 15 1 0 SCN2A constrhet 1918 C R 1 SCN2A:1918:R:C ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246069 rs201718767 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1918His p.Arg1918His c.5753G>A missense_variant segdup 21 9.16446283155717e-05 0 0 0 2 2 16 1 0 SCN2A constrhet 1918 H R 1 SCN2A:1918:R:H ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246089 rs145727224 G A gnomAD Exomes PASS NA p.Val1925Ile p.Val1925Ile c.5773G>A missense_variant segdup 2 9.61973199426664e-06 2 0 0 0 0 0 0 0 SCN2A constrhet 1925 I V 1 SCN2A:1925:V:I ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246098 rs750819988 G A gnomAD Exomes PASS NA p.Val1928Ile p.Val1928Ile c.5782G>A missense_variant segdup 2 9.61889921317404e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 1928 I V 1 SCN2A:1928:V:I ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246120 rs556514878 A G gnomAD Exomes PASS NA p.Asp1935Gly p.Asp1935Gly c.5804A>G missense_variant segdup 3 1.44240477724462e-05 0 0 0 3 0 0 0 0 SCN2A constrhet 1935 G D 1 SCN2A:1935:D:G ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246131 rs754563746 G C gnomAD Exomes PASS NA p.Glu1939Gln p.Glu1939Gln c.5815G>C missense_variant segdup 8 3.84685663727027e-05 0 0 0 0 0 0 0 8 SCN2A constrhet 1939 Q E 1 SCN2A:1939:E:Q ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246134 rs747846577 T C gnomAD Exomes PASS NA p.Cys1940Arg p.Cys1940Arg c.5818T>C missense_variant segdup 3 1.44248800330811e-05 0 0 0 1 0 0 0 2 SCN2A constrhet 1940 R C 1 SCN2A:1940:C:R ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246138 rs749132423 A G gnomAD Exomes PASS NA p.Asp1941Gly p.Asp1941Gly c.5822A>G missense_variant segdup 2 9.61612431725517e-06 0 0 0 0 0 0 0 2 SCN2A constrhet 1941 G D 1 SCN2A:1941:D:G ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246186 rs768795777 A G gnomAD Exomes PASS NA p.Asn1957Ser p.Asn1957Ser c.5870A>G missense_variant segdup 3 1.44250187525244e-05 0 0 0 0 0 0 0 3 SCN2A constrhet 1957 S N 1 SCN2A:1957:N:S ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246224 rs763448640 A G gnomAD Exomes PASS NA p.Thr1970Ala p.Thr1970Ala c.5908A>G missense_variant segdup 2 9.62075003367263e-06 1 0 0 0 0 1 0 0 SCN2A constrhet 1970 A T 1 SCN2A:1970:T:A ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246276 rs757068860 A G gnomAD Exomes PASS NA p.Glu1987Gly p.Glu1987Gly c.5960A>G missense_variant segdup 2 9.70430968393063e-06 0 0 0 0 0 2 0 0 SCN2A constrhet 1987 G E 1 SCN2A:1987:E:G ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246315 rs1433941543 T C gnomAD Exomes PASS NA p.Ile2000Thr p.Ile2000Thr c.5999T>C missense_variant segdup 2 9.94747731975171e-06 2 0 0 0 0 0 0 0 SCN2A constrhet 2000 T I 1 SCN2A:2000:I:T ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246318 rs771968887 G A gnomAD Exomes PASS NA p.Arg2001Lys p.Arg2001Lys c.6002G>A missense_variant segdup 4 1.99758292466116e-05 0 4 0 0 0 0 0 0 SCN2A constrhet 2001 K R 1 SCN2A:2001:R:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 2 166246320 rs780027748 G A gnomAD Exomes PASS NA p.Glu2002Lys p.Glu2002Lys c.6004G>A missense_variant segdup 4 2.00406825856489e-05 0 0 0 0 0 4 0 0 SCN2A constrhet 2002 K E 1 SCN2A:2002:E:K ENST00000283256;ENST00000375437;NM_001040142.1;NM_021007.2;XM_005246750.1;XM_005246751.1;XM_005246752.1 19 13318141 rs780693455 C T gnomAD Exomes PASS NA p.Asp2503Asn p.Asp2503Asn c.7507G>A missense_variant 2 1.3744e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2503 N D 1 CACNA1A:2503:D:N ENST00000360228 19 13318142 rs1269668562 G C gnomAD Exomes PASS NA p.Asp2502Glu p.Asp2502Glu c.7506C>G missense_variant 2 1.37193e-05 0 2 0 0 0 0 0 0 CACNA1A constrhet 2502 E D 1 CACNA1A:2502:D:E ENST00000360228 19 13318155 rs1444888359 T C gnomAD Exomes PASS NA p.Tyr2498Cys p.Tyr2498Cys c.7493A>G missense_variant 2 1.37425e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2498 C Y 1 CACNA1A:2498:Y:C ENST00000360228 19 13318185 rs748044062 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2488Leu p.Pro2488Leu c.7463C>T missense_variant 4 2.6683e-05 1 0 0 1 0 1 0 1 CACNA1A constrhet 2488 L P 1 CACNA1A:2488:P:L ENST00000360228 19 13318189 rs772225266 C T gnomAD Exomes PASS NA p.Gly2487Arg p.Gly2487Arg c.7459G>A missense_variant 2 1.54792e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2487 R G 1 CACNA1A:2487:G:R ENST00000360228 19 13318196 rs777044475 C A gnomAD Exomes PASS NA p.Arg2484Ser p.Arg2484Ser c.7452G>T missense_variant 5 3.97956e-05 0 2 0 0 0 2 1 0 CACNA1A constrhet 2484 S R 1 CACNA1A:2484:R:S ENST00000360228 19 13318207 rs765523382 C T gnomAD Exomes PASS NA p.Gly2481Arg p.Gly2481Arg c.7441G>A missense_variant 15 0.000122983 1 12 0 0 0 1 1 0 CACNA1A constrhet 2481 R G 1 CACNA1A:2481:G:R ENST00000360228 19 13318208 rs539546830 G T gnomAD Exomes PASS NA p.His2480Gln p.His2480Gln c.7440C>A missense_variant 6 4.97265e-05 0 0 0 0 0 0 0 6 CACNA1A constrhet 2480 Q H 1 CACNA1A:2480:H:Q ENST00000360228 19 13318208 rs539546830 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.His2480Gln p.His2480Gln c.7440C>G missense_variant 231 0.001633109 2 7 0 0 4 194 9 15 CACNA1A constrhet 2480 Q H 1 CACNA1A:2480:H:Q ENST00000360228 19 13318212 rs758817759 G A gnomAD Exomes PASS NA p.Ala2479Val p.Ala2479Val c.7436C>T missense_variant 2 1.66608e-05 0 0 0 0 0 1 0 1 CACNA1A constrhet 2479 V A 1 CACNA1A:2479:A:V ENST00000360228 19 13318215 rs764648125 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2478Leu p.Pro2478Leu c.7433C>T missense_variant 7 4.97987e-05 0 0 0 0 0 6 0 1 CACNA1A constrhet 2478 L P 1 CACNA1A:2478:P:L ENST00000360228 19 13318222 rs779631503 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr2476His p.Tyr2476His c.7426T>C missense_variant 10 7.21074e-05 1 0 0 0 0 9 0 0 CACNA1A constrhet 2476 H Y 1 CACNA1A:2476:Y:H ENST00000360228 19 13318243 rs778589827 C T gnomAD Exomes PASS NA p.Gly2469Ser p.Gly2469Ser c.7405G>A missense_variant 2 1.81931e-05 1 0 0 0 0 1 0 0 CACNA1A constrhet 2469 S G 1 CACNA1A:2469:G:S ENST00000360228 19 13318248 rs1199275549 C T gnomAD Exomes PASS NA p.Arg2467Gln p.Arg2467Gln c.7400G>A missense_variant 2 1.83952e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2467 Q R 1 CACNA1A:2467:R:Q ENST00000360228 19 13318248 rs1199275549 C G gnomAD Exomes PASS NA p.Arg2467Pro p.Arg2467Pro c.7400G>C missense_variant 3 2.75928e-05 0 1 0 0 0 2 0 0 CACNA1A constrhet 2467 P R 1 CACNA1A:2467:R:P ENST00000360228 19 13318249 rs1395962247 G A gnomAD Exomes PASS NA p.Arg2467Trp p.Arg2467Trp c.7399C>T missense_variant 2 1.83861e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2467 W R 1 CACNA1A:2467:R:W ENST00000360228 19 13318267 rs777898817 C A gnomAD Exomes PASS NA p.Ala2461Ser p.Ala2461Ser c.7381G>T missense_variant 2 2.04273e-05 0 0 0 2 0 0 0 0 CACNA1A constrhet 2461 S A 1 CACNA1A:2461:A:S ENST00000360228 19 13318290 rs1429248702 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2453Lys p.Arg2453Lys c.7358G>A missense_variant 2 2.42884e-05 0 0 2 0 0 0 0 0 CACNA1A constrhet 2453 K R 1 CACNA1A:2453:R:K ENST00000360228 19 13318299 rs1327100600 C T gnomAD Exomes PASS NA p.Arg2450His p.Arg2450His c.7349G>A missense_variant 3 6.64687e-05 0 3 0 0 0 0 0 0 CACNA1A constrhet 2450 H R 1 CACNA1A:2450:R:H ENST00000360228 19 13318320 rs763414737 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2443Val p.Ala2443Val c.7328C>T missense_variant 27 0.000380153 0 5 19 0 0 3 0 0 CACNA1A constrhet 2443 V A 1 CACNA1A:2443:A:V ENST00000360228 19 13318321 rs533884784 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2443Thr p.Ala2443Thr c.7327G>A missense_variant 11 0.000155249 0 7 0 0 0 4 0 0 CACNA1A constrhet 2443 T A 1 CACNA1A:2443:A:T ENST00000360228 19 13318342 rs754573556 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2436Thr p.Ala2436Thr c.7306G>A missense_variant 5 6.25876e-05 0 0 0 1 1 3 0 0 CACNA1A constrhet 2436 T A 1 CACNA1A:2436:A:T ENST00000360228 19 13318357 rs1052515747 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2431Thr p.Ala2431Thr c.7291G>A missense_variant 17 0.000185088 1 0 1 0 0 15 0 0 CACNA1A constrhet 2431 T A 1 CACNA1A:2431:A:T ENST00000360228 19 13318369 rs777806950 C T gnomAD Exomes PASS NA p.Glu2427Lys p.Glu2427Lys c.7279G>A missense_variant 3 4.04411e-05 0 0 0 0 1 2 0 0 CACNA1A constrhet 2427 K E 1 CACNA1A:2427:E:K ENST00000360228 19 13318372 rs1043443142 C T gnomAD Exomes PASS NA p.Gly2426Ser p.Gly2426Ser c.7276G>A missense_variant 2 2.6634e-05 0 2 0 0 0 0 0 0 CACNA1A constrhet 2426 S G 1 CACNA1A:2426:G:S ENST00000360228 19 13318374 rs555362569 C T gnomAD Exomes PASS NA p.Gly2425Asp p.Gly2425Asp c.7274G>A missense_variant 25 0.000331222 0 0 0 0 0 0 0 25 CACNA1A constrhet 2425 D G 1 CACNA1A:2425:G:D ENST00000360228 19 13318386 rs573961089 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2421Leu p.Pro2421Leu c.7262C>T missense_variant 158 0.00159287 0 1 0 1 124 26 4 2 CACNA1A constrhet 2421 L P 1 CACNA1A:2421:P:L ENST00000360228 19 13318387 rs544924244 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2421Ala p.Pro2421Ala c.7261C>G missense_variant 154 0.001541819 0 0 0 0 124 26 4 0 CACNA1A constrhet 2421 A P 1 CACNA1A:2421:P:A ENST00000360228 19 13318400 rs1421457173 G C gnomAD Genomes NA PASS p.Asp2416Glu p.Asp2416Glu c.7248C>G missense_variant 2 9.60707e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2416 E D 1 CACNA1A:2416:D:E ENST00000360228 19 13318413 rs775829854 C A gnomAD Exomes PASS NA p.Gly2412Val p.Gly2412Val c.7235G>T missense_variant 2 2.4466e-05 0 0 0 1 0 0 0 1 CACNA1A constrhet 2412 V G 1 CACNA1A:2412:G:V ENST00000360228 19 13318416 rs763253182 C G gnomAD Exomes PASS NA p.Arg2411Pro p.Arg2411Pro c.7232G>C missense_variant 2 2.45495e-05 0 0 0 0 0 1 0 1 CACNA1A constrhet 2411 P R 1 CACNA1A:2411:R:P ENST00000360228 19 13318435 rs1359445604 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2405Trp p.Arg2405Trp c.7213C>T missense_variant 3 2.99407e-05 0 1 0 0 0 2 0 0 CACNA1A constrhet 2405 W R 1 CACNA1A:2405:R:W ENST00000360228 19 13318459 rs768129470 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2397Met p.Val2397Met c.7189G>A missense_variant 14 0.00014792 0 0 0 0 0 14 0 0 CACNA1A constrhet 2397 M V 1 CACNA1A:2397:V:M ENST00000360228 19 13318464 rs759129605 G C gnomAD Exomes PASS NA p.Pro2395Arg p.Pro2395Arg c.7184C>G missense_variant 2 2.78373e-05 0 0 0 0 0 0 0 2 CACNA1A constrhet 2395 R P 1 CACNA1A:2395:P:R ENST00000360228 19 13318489 rs1379375107 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2387Arg p.Gly2387Arg c.7159G>C missense_variant 2 2.74861e-05 0 0 0 0 1 1 0 0 CACNA1A constrhet 2387 R G 1 CACNA1A:2387:G:R ENST00000360228 19 13318492 rs758230368 C T gnomAD Exomes PASS NA p.Gly2386Ser p.Gly2386Ser c.7156G>A missense_variant 2 4.0282e-05 0 0 0 0 0 1 0 1 CACNA1A constrhet 2386 S G 1 CACNA1A:2386:G:S ENST00000360228 19 13318504 rs763992341 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2382Ser p.Ala2382Ser c.7144G>T missense_variant 4 7.46269e-05 0 0 1 0 0 3 0 0 CACNA1A constrhet 2382 S A 1 CACNA1A:2382:A:S ENST00000360228 19 13318509 rs1329486958 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2380Leu p.Pro2380Leu c.7139C>T missense_variant 2 3.94291e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2380 L P 1 CACNA1A:2380:P:L ENST00000360228 19 13318540 rs1308249689 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2370Trp p.Arg2370Trp c.7108C>T missense_variant 3 7.06448e-05 0 0 0 0 1 2 0 0 CACNA1A constrhet 2370 W R 1 CACNA1A:2370:R:W ENST00000360228 19 13318581 rs780098532 G A gnomAD Exomes PASS NA p.Thr2356Met p.Thr2356Met c.7067C>T missense_variant 3 0.00015536 0 0 3 0 0 0 0 0 CACNA1A constrhet 2356 M T 1 CACNA1A:2356:T:M ENST00000360228 19 13318581 rs780098532 G T gnomAD Exomes PASS NA p.Thr2356Lys p.Thr2356Lys c.7067C>A missense_variant 2 0.000103573 0 0 0 0 0 0 0 2 CACNA1A constrhet 2356 K T 1 CACNA1A:2356:T:K ENST00000360228 19 13318596 rs1442777428 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2351Glu p.Gly2351Glu c.7052G>A missense_variant 4 8.60956e-05 0 0 0 0 0 4 0 0 CACNA1A constrhet 2351 E G 1 CACNA1A:2351:G:E ENST00000360228 19 13318609 rs1050540062 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2347Lys p.Glu2347Lys c.7039G>A missense_variant 3 5.71298e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 2347 K E 1 CACNA1A:2347:E:K ENST00000360228 19 13318621 rs1365860992 C T gnomAD Genomes NA PASS p.Gly2343Ser p.Gly2343Ser c.7027G>A missense_variant 2 9.49668e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2343 S G 1 CACNA1A:2343:G:S ENST00000360228 19 13318629 rs768952980 C T gnomAD Exomes PASS NA p.Arg2340Lys p.Arg2340Lys c.7019G>A missense_variant 18 0.00032041 0 0 15 0 0 3 0 0 CACNA1A constrhet 2340 K R 1 CACNA1A:2340:R:K ENST00000360228 19 13318632 rs1341492474 C T gnomAD Exomes PASS NA p.Arg2339Gln p.Arg2339Gln c.7016G>A missense_variant 2 3.4528e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2339 Q R 1 CACNA1A:2339:R:Q ENST00000360228 19 13318638 rs774686258 C T gnomAD Exomes PASS NA p.Gly2337Asp p.Gly2337Asp c.7010G>A missense_variant 3 5.09061e-05 0 0 0 0 0 0 0 3 CACNA1A constrhet 2337 D G 1 CACNA1A:2337:G:D ENST00000360228 19 13318653 rs748579395 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2332Gln p.Arg2332Gln c.6995G>A missense_variant 20 0.000270278 0 1 0 1 0 0 1 17 CACNA1A constrhet 2332 Q R 1 CACNA1A:2332:R:Q ENST00000360228 19 13318657 rs1193347869 C A gnomAD Exomes PASS NA p.Gly2331Cys p.Gly2331Cys c.6991G>T missense_variant 2 3.20051e-05 0 0 0 0 0 0 0 2 CACNA1A constrhet 2331 C G 1 CACNA1A:2331:G:C ENST00000360228 19 13318675 rs1328309669 G C gnomAD Exomes PASS NA p.Gln2325Glu p.Gln2325Glu c.6973C>G missense_variant lcr 3 8.17483e-05 0 2 0 0 0 1 0 0 CACNA1A constrhet 2325 E Q 1 CACNA1A:2325:Q:E ENST00000360228 19 13318678 rs1398174300 G C gnomAD Exomes PASS NA p.Gln2324Glu p.Gln2324Glu c.6970C>G missense_variant lcr 3 6.77415e-05 0 0 0 0 0 2 0 1 CACNA1A constrhet 2324 E Q 1 CACNA1A:2324:Q:E ENST00000360228 19 13318713 rs994820572 G T gnomAD Exomes PASS NA p.Pro2312Gln p.Pro2312Gln c.6935C>A missense_variant 4 6.80133e-05 0 1 0 1 0 1 0 1 CACNA1A constrhet 2312 Q P 1 CACNA1A:2312:P:Q ENST00000360228 19 13318713 rs994820572 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2312Leu p.Pro2312Leu c.6935C>T missense_variant 2 2.52704e-05 0 1 0 1 0 0 0 0 CACNA1A constrhet 2312 L P 1 CACNA1A:2312:P:L ENST00000360228 19 13318716 rs1476143574 G T gnomAD Exomes PASS NA p.Pro2311His p.Pro2311His c.6932C>A missense_variant 2 3.18928e-05 0 0 0 0 0 1 0 1 CACNA1A constrhet 2311 H P 1 CACNA1A:2311:P:H ENST00000360228 19 13318726 rs758924907 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2308Ser p.Gly2308Ser c.6922G>A missense_variant 6 7.45101e-05 0 0 0 0 0 5 0 1 CACNA1A constrhet 2308 S G 1 CACNA1A:2308:G:S ENST00000360228 19 13318731 rs1311120402 G A gnomAD Exomes PASS NA p.Ala2306Val p.Ala2306Val c.6917C>T missense_variant 3 5.23451e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 2306 V A 1 CACNA1A:2306:A:V ENST00000360228 19 13318807 rs762678287 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2281Trp p.Arg2281Trp c.6841C>T missense_variant 3 0.000105322 0 1 1 0 0 1 0 0 CACNA1A constrhet 2281 W R 1 CACNA1A:2281:R:W ENST00000360228 19 13319580 rs755099305 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2257Val p.Ala2257Val c.6770C>T missense_variant 5 2.69124e-05 1 0 0 0 0 1 1 2 CACNA1A constrhet 2257 V A 1 CACNA1A:2257:A:V ENST00000360228 19 13319590 rs779063280 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2254Gln p.Glu2254Gln c.6760G>C missense_variant 28 0.000157983 1 8 0 0 0 16 0 3 CACNA1A constrhet 2254 Q E 1 CACNA1A:2254:E:Q ENST00000360228 19 13319592 rs752950486 C T gnomAD Exomes PASS NA p.Arg2253Gln p.Arg2253Gln c.6758G>A missense_variant 3 1.93648e-05 0 0 0 0 0 2 1 0 CACNA1A constrhet 2253 Q R 1 CACNA1A:2253:R:Q ENST00000360228 19 13319599 rs758625682 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2251Lys p.Glu2251Lys c.6751G>A missense_variant 3 1.77963e-05 1 0 0 0 0 1 0 1 CACNA1A constrhet 2251 K E 1 CACNA1A:2251:E:K ENST00000360228 19 13319613 rs768312851 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2246Phe p.Ser2246Phe c.6737C>T missense_variant 3 1.94565e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 2246 F S 1 CACNA1A:2246:S:F ENST00000360228 19 13319628 rs773057074 C T gnomAD Exomes PASS NA p.Arg2241Gln p.Arg2241Gln c.6722G>A missense_variant 4 3.1957e-05 1 2 0 0 0 0 0 1 CACNA1A constrhet 2241 Q R 1 CACNA1A:2241:R:Q ENST00000360228 19 13319629 rs760428308 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2241Gly p.Arg2241Gly c.6721C>G missense_variant 2 1.33179e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 2241 G R 1 CACNA1A:2241:R:G ENST00000360228 19 13319631 rs1163658413 G A gnomAD Exomes PASS NA p.Ala2240Val p.Ala2240Val c.6719C>T missense_variant 2 1.56575e-05 0 0 0 0 0 0 0 2 CACNA1A constrhet 2240 V A 1 CACNA1A:2240:A:V ENST00000360228 19 13319634 rs753798870 C T gnomAD Exomes PASS NA p.Arg2239Gln p.Arg2239Gln c.6716G>A missense_variant 4 3.23107e-05 0 1 0 0 0 1 1 1 CACNA1A constrhet 2239 Q R 1 CACNA1A:2239:R:Q ENST00000360228 19 13319635 rs759576380 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2239Trp p.Arg2239Trp c.6715C>T missense_variant 7 4.82446e-05 1 0 0 0 0 6 0 0 CACNA1A constrhet 2239 W R 1 CACNA1A:2239:R:W ENST00000360228 19 13319641 rs1415336869 G A gnomAD Exomes PASS NA p.Arg2237Trp p.Arg2237Trp c.6709C>T missense_variant 3 2.43218e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 2237 W R 1 CACNA1A:2237:R:W ENST00000360228 19 13319644 rs752808137 C T gnomAD Exomes PASS NA p.Gly2236Ser p.Gly2236Ser c.6706G>A missense_variant 3 2.48538e-05 0 1 0 0 0 0 0 2 CACNA1A constrhet 2236 S G 1 CACNA1A:2236:G:S ENST00000360228 19 13319655 rs777894367 C T gnomAD Exomes PASS NA p.Arg2232Gln p.Arg2232Gln c.6695G>A missense_variant 3 2.56366e-05 0 2 0 1 0 0 0 0 CACNA1A constrhet 2232 Q R 1 CACNA1A:2232:R:Q ENST00000360228 19 13319656 rs751926317 G A gnomAD Exomes PASS NA p.Arg2232Trp p.Arg2232Trp c.6694C>T missense_variant 4 3.40936e-05 1 0 0 1 0 2 0 0 CACNA1A constrhet 2232 W R 1 CACNA1A:2232:R:W ENST00000360228 19 13319659 rs1487968124 C G gnomAD Exomes PASS NA p.Glu2231Gln p.Glu2231Gln c.6691G>C missense_variant 2 1.70999e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 2231 Q E 1 CACNA1A:2231:E:Q ENST00000360228 19 13319670 rs1064793075 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2227Leu p.Arg2227Leu c.6680G>T missense_variant 4 2.96292e-05 0 0 0 0 0 4 0 0 CACNA1A constrhet 2227 L R 1 CACNA1A:2227:R:L ENST00000360228 19 13319670 rs1064793075 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2227His p.Arg2227His c.6680G>A missense_variant 6 4.44438e-05 0 0 0 0 0 4 0 2 CACNA1A constrhet 2227 H R 1 CACNA1A:2227:R:H ENST00000360228 19 13319671 rs757715357 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2227Cys p.Arg2227Cys c.6679C>T missense_variant 10 7.37702e-05 0 0 0 0 0 2 0 8 CACNA1A constrhet 2227 C R 1 CACNA1A:2227:R:C ENST00000360228 19 13319677 rs1441141639 T C gnomAD Exomes PASS NA p.Lys2225Glu p.Lys2225Glu c.6673A>G missense_variant 2 1.753e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2225 E K 1 CACNA1A:2225:K:E ENST00000360228 19 13319683 rs768221184 G A gnomAD Exomes PASS NA p.Pro2223Ser p.Pro2223Ser c.6667C>T missense_variant 9 7.91696e-05 0 9 0 0 0 0 0 0 CACNA1A constrhet 2223 S P 1 CACNA1A:2223:P:S ENST00000360228 19 13319685 rs1336146310 G A gnomAD Genomes NA PASS p.Pro2222Leu p.Pro2222Leu c.6665C>T missense_variant 2 9.46253e-05 1 1 0 0 0 0 0 0 CACNA1A constrhet 2222 L P 1 CACNA1A:2222:P:L ENST00000360228 19 13319688 rs778551911 G A gnomAD Exomes PASS NA p.Pro2221Leu p.Pro2221Leu c.6662C>T missense_variant 10 8.83767e-05 0 0 0 0 0 5 0 5 CACNA1A constrhet 2221 L P 1 CACNA1A:2221:P:L ENST00000360228 19 13319695 rs1307304917 G A gnomAD Exomes PASS NA p.His2219Tyr p.His2219Tyr c.6655C>T missense_variant lcr 2 2.01183e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2219 Y H 1 CACNA1A:2219:H:Y ENST00000360228 19 13319706 rs1233829101 T G gnomAD Exomes PASS NA p.His2215Pro p.His2215Pro c.6644A>C missense_variant lcr 5 4.37629e-05 0 1 0 0 0 4 0 0 CACNA1A constrhet 2215 P H 1 CACNA1A:2215:H:P ENST00000360228 19 13319720 rs1006425986 G C gnomAD Exomes PASS NA p.His2210Gln p.His2210Gln c.6630C>G missense_variant lcr 2 1.72203e-05 0 0 0 2 0 0 0 0 CACNA1A constrhet 2210 Q H 1 CACNA1A:2210:H:Q ENST00000360228 19 13319736 rs756685971 C T gnomAD Exomes PASS NA p.Arg2205Gln p.Arg2205Gln c.6614G>A missense_variant 4 3.4046e-05 0 2 0 0 0 1 0 1 CACNA1A constrhet 2205 Q R 1 CACNA1A:2205:R:Q ENST00000360228 19 13319737 rs780467849 G A gnomAD Exomes PASS NA p.Arg2205Trp p.Arg2205Trp c.6613C>T missense_variant 5 4.25307e-05 0 1 0 0 0 1 1 2 CACNA1A constrhet 2205 W R 1 CACNA1A:2205:R:W ENST00000360228 19 13319737 rs780467849 G C gnomAD Exomes PASS NA p.Arg2205Gly p.Arg2205Gly c.6613C>G missense_variant 9 7.65553e-05 0 3 0 1 0 2 3 0 CACNA1A constrhet 2205 G R 1 CACNA1A:2205:R:G ENST00000360228 19 13319742 rs1057521770 T C gnomAD Exomes PASS NA p.Lys2203Arg p.Lys2203Arg c.6608A>G missense_variant 2 1.69825e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2203 R K 1 CACNA1A:2203:K:R ENST00000360228 19 13319755 rs1477386827 G A gnomAD Exomes PASS NA p.Arg2199Trp p.Arg2199Trp c.6595C>T missense_variant 3 2.54155e-05 0 1 0 0 0 1 0 1 CACNA1A constrhet 2199 W R 1 CACNA1A:2199:R:W ENST00000360228 19 13319766 rs373192655 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2195Gln p.Arg2195Gln c.6584G>A missense_variant 31 0.000222487 0 0 4 16 0 8 0 3 CACNA1A constrhet 2195 Q R 1 CACNA1A:2195:R:Q ENST00000360228 19 13319767 rs1463901630 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2195Trp p.Arg2195Trp c.6583C>T missense_variant 2 1.4353e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 2195 W R 1 CACNA1A:2195:R:W ENST00000360228 19 13319767 rs1463901630 G C gnomAD Exomes PASS NA p.Arg2195Gly p.Arg2195Gly c.6583C>G missense_variant 2 1.69282e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2195 G R 1 CACNA1A:2195:R:G ENST00000360228 19 13319775 rs1325697290 G A gnomAD Exomes PASS NA p.Ser2192Leu p.Ser2192Leu c.6575C>T missense_variant 2 1.6944e-05 0 0 0 0 0 1 1 0 CACNA1A constrhet 2192 L S 1 CACNA1A:2192:S:L ENST00000360228 19 13319778 rs377294817 G A gnomAD Exomes PASS NA p.Pro2191Leu p.Pro2191Leu c.6572C>T missense_variant 3 2.54207e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 2191 L P 1 CACNA1A:2191:P:L ENST00000360228 19 13319817 rs1287249111 C T gnomAD Exomes PASS NA p.Gly2178Glu p.Gly2178Glu c.6533G>A missense_variant 2 1.70016e-05 0 1 0 0 0 0 1 0 CACNA1A constrhet 2178 E G 1 CACNA1A:2178:G:E ENST00000360228 19 13320147 rs375354077 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2169Cys p.Arg2169Cys c.6505C>T missense_variant 9 0.000146934 9 0 0 0 0 0 0 0 CACNA1A constrhet 2169 C R 1 CACNA1A:2169:R:C ENST00000360228 19 13320158 rs727503832 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2165His p.Arg2165His c.6494G>A missense_variant 7 0.000118335 1 1 0 0 0 4 1 0 CACNA1A constrhet 2165 H R 1 CACNA1A:2165:R:H ENST00000360228 19 13320159 rs746582303 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2165Cys p.Arg2165Cys c.6493C>T missense_variant 2 3.28818e-05 0 0 0 1 0 1 0 0 CACNA1A constrhet 2165 C R 1 CACNA1A:2165:R:C ENST00000360228 19 13320180 rs774289573 G A gnomAD Exomes PASS NA p.Arg2158Cys p.Arg2158Cys c.6472C>T missense_variant 2 4.78744e-05 0 0 0 0 0 1 0 1 CACNA1A constrhet 2158 C R 1 CACNA1A:2158:R:C ENST00000360228 19 13320188 rs572722130 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2155Leu p.Arg2155Leu c.6464G>T missense_variant 3 4.72411e-05 1 0 1 0 0 0 1 0 CACNA1A constrhet 2155 L R 1 CACNA1A:2155:R:L ENST00000360228 19 13320189 rs766661019 G A gnomAD Exomes PASS NA p.Arg2155Cys p.Arg2155Cys c.6463C>T missense_variant 3 6.81292e-05 1 0 0 0 0 2 0 0 CACNA1A constrhet 2155 C R 1 CACNA1A:2155:R:C ENST00000360228 19 13320192 rs1374160355 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2154Trp p.Arg2154Trp c.6460C>T missense_variant 4 6.01793e-05 0 1 0 1 2 0 0 0 CACNA1A constrhet 2154 W R 1 CACNA1A:2154:R:W ENST00000360228 19 13320201 rs1005361810 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.His2151Tyr p.His2151Tyr c.6451C>T missense_variant 2 2.90099e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 2151 Y H 1 CACNA1A:2151:H:Y ENST00000360228 19 13320204 rs756780624 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2150Trp p.Arg2150Trp c.6448C>T missense_variant 4 5.7138e-05 0 0 0 4 0 0 0 0 CACNA1A constrhet 2150 W R 1 CACNA1A:2150:R:W ENST00000360228 19 13320208 rs780779363 G T gnomAD Exomes PASS NA p.Asn2148Lys p.Asn2148Lys c.6444C>A missense_variant 2 3.98375e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 2148 K N 1 CACNA1A:2148:N:K ENST00000360228 19 13320252 rs121908235 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2134Cys p.Arg2134Cys c.6400C>T missense_variant 5 6.40139e-05 0 0 0 0 0 5 0 0 CACNA1A constrhet 2134 C R 1 CACNA1A:2134:R:C ENST00000360228 19 13320254 rs779044548 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2133Gln p.Arg2133Gln c.6398G>A missense_variant 6 7.70179e-05 0 0 0 0 0 5 0 1 CACNA1A constrhet 2133 Q R 1 CACNA1A:2133:R:Q ENST00000360228 19 13320273 rs368183370 C T gnomAD Exomes PASS NA p.Val2127Met p.Val2127Met c.6379G>A missense_variant 3 5.21322e-05 2 0 0 1 0 0 0 0 CACNA1A constrhet 2127 M V 1 CACNA1A:2127:V:M ENST00000360228 19 13321453 rs373229577 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2106Gln p.Arg2106Gln c.6317G>A missense_variant 7 4.12663e-05 0 0 0 0 0 4 2 1 CACNA1A constrhet 2106 Q R 1 CACNA1A:2106:R:Q ENST00000360228 19 13322925 rs757385012 C T gnomAD Exomes PASS NA p.Glu2099Lys p.Glu2099Lys c.6295G>A missense_variant 2 9.78378e-06 0 2 0 0 0 0 0 0 CACNA1A constrhet 2099 K E 1 CACNA1A:2099:E:K ENST00000360228 19 13322931 rs746111884 G A gnomAD Exomes PASS NA p.Pro2097Ser p.Pro2097Ser c.6289C>T missense_variant 2 9.7682e-06 0 0 0 0 0 0 0 2 CACNA1A constrhet 2097 S P 1 CACNA1A:2097:P:S ENST00000360228 19 13322939 rs769128653 G A gnomAD Exomes PASS NA p.Pro2094Leu p.Pro2094Leu c.6281C>T missense_variant 3 1.46254e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 2094 L P 1 CACNA1A:2094:P:L ENST00000360228 19 13322943 rs774946211 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met2093Val p.Met2093Val c.6277A>G missense_variant 2 8.82854e-06 2 0 0 0 0 0 0 0 CACNA1A constrhet 2093 V M 1 CACNA1A:2093:M:V ENST00000360228 19 13322949 rs371172398 C T gnomAD Exomes PASS NA p.Ala2091Thr p.Ala2091Thr c.6271G>A missense_variant 2 9.74279e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 2091 T A 1 CACNA1A:2091:A:T ENST00000360228 19 13322954 rs1033214914 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2089Gln p.Arg2089Gln c.6266G>A missense_variant 3 1.32369e-05 0 1 0 0 0 1 0 1 CACNA1A constrhet 2089 Q R 1 CACNA1A:2089:R:Q ENST00000360228 19 13322955 rs200093958 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2089Trp p.Arg2089Trp c.6265C>T missense_variant 4 1.76457e-05 0 0 0 0 0 3 0 1 CACNA1A constrhet 2089 W R 1 CACNA1A:2089:R:W ENST00000360228 19 13322963 rs765051582 C A gnomAD Exomes PASS NA p.Gly2086Val p.Gly2086Val c.6257G>T missense_variant 22 0.000107003 1 21 0 0 0 0 0 0 CACNA1A constrhet 2086 V G 1 CACNA1A:2086:G:V ENST00000360228 19 13322969 rs1271824887 A T gnomAD Exomes PASS NA p.Met2084Lys p.Met2084Lys c.6251T>A missense_variant 2 9.72545e-06 0 0 0 0 2 0 0 0 CACNA1A constrhet 2084 K M 1 CACNA1A:2084:M:K ENST00000360228 19 13322985 rs752513542 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2079Lys p.Glu2079Lys c.6235G>A missense_variant 7 3.08422e-05 0 0 0 0 0 4 0 3 CACNA1A constrhet 2079 K E 1 CACNA1A:2079:E:K ENST00000360228 19 13322988 rs374905727 T C gnomAD Exomes PASS NA p.Ser2078Gly p.Ser2078Gly c.6232A>G missense_variant 4 1.9439e-05 0 0 0 0 0 2 0 2 CACNA1A constrhet 2078 G S 1 CACNA1A:2078:S:G ENST00000360228 19 13322989 rs751515136 G T gnomAD Exomes PASS NA p.Asp2077Glu p.Asp2077Glu c.6231C>A missense_variant 7 3.40199e-05 0 1 0 0 0 6 0 0 CACNA1A constrhet 2077 E D 1 CACNA1A:2077:D:E ENST00000360228 19 13322991 rs757223826 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp2077Asn p.Asp2077Asn c.6229G>A missense_variant 2 8.81081e-06 0 0 0 0 0 0 1 1 CACNA1A constrhet 2077 N D 1 CACNA1A:2077:D:N ENST00000360228 19 13323009 rs370514102 C T gnomAD Exomes PASS NA p.Gly2071Ser p.Gly2071Ser c.6211G>A missense_variant 4 1.94397e-05 0 0 0 0 0 4 0 0 CACNA1A constrhet 2071 S G 1 CACNA1A:2071:G:S ENST00000360228 19 13323017 rs769040794 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2068Gln p.Arg2068Gln c.6203G>A missense_variant 3 1.3222e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 2068 Q R 1 CACNA1A:2068:R:Q ENST00000360228 19 13323227 rs761560224 C T gnomAD Exomes PASS NA p.Asp2054Asn p.Asp2054Asn c.6160G>A missense_variant 12 5.8572e-05 1 0 5 0 0 1 1 4 CACNA1A constrhet 2054 N D 1 CACNA1A:2054:D:N ENST00000360228 19 13323247 rs539347883 G A gnomAD Exomes PASS NA p.Pro2047Leu p.Pro2047Leu c.6140C>T missense_variant 4 1.96726e-05 1 0 0 0 0 3 0 0 CACNA1A constrhet 2047 L P 1 CACNA1A:2047:P:L ENST00000360228 19 13323257 rs566781445 T C gnomAD Exomes PASS NA p.Thr2044Ala p.Thr2044Ala c.6130A>G missense_variant 7 3.46717e-05 0 0 0 0 0 0 0 7 CACNA1A constrhet 2044 A T 1 CACNA1A:2044:T:A ENST00000360228 19 13323259 rs765421252 C T gnomAD Exomes PASS NA p.Gly2043Asp p.Gly2043Asp c.6128G>A missense_variant 3 1.49258e-05 0 0 0 0 0 0 0 3 CACNA1A constrhet 2043 D G 1 CACNA1A:2043:G:D ENST00000360228 19 13323262 rs563345694 G A gnomAD Exomes PASS NA p.Thr2042Met p.Thr2042Met c.6125C>T missense_variant 6 3.00051e-05 0 1 0 0 0 5 0 0 CACNA1A constrhet 2042 M T 1 CACNA1A:2042:T:M ENST00000360228 19 13323286 rs369555957 C T gnomAD Exomes PASS NA p.Arg2034His p.Arg2034His c.6101G>A missense_variant 6 3.26541e-05 0 2 0 0 0 1 0 3 CACNA1A constrhet 2034 H R 1 CACNA1A:2034:R:H ENST00000360228 19 13323304 rs370345937 G C gnomAD Exomes PASS NA p.Pro2028Arg p.Pro2028Arg c.6083C>G missense_variant 3 1.77378e-05 3 0 0 0 0 0 0 0 CACNA1A constrhet 2028 R P 1 CACNA1A:2028:P:R ENST00000360228 19 13323310 rs771768635 T C gnomAD Exomes PASS NA p.Glu2026Gly p.Glu2026Gly c.6077A>G missense_variant 11 6.64524e-05 0 11 0 0 0 0 0 0 CACNA1A constrhet 2026 G E 1 CACNA1A:2026:E:G ENST00000360228 19 13323320 rs574805525 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2023Ser p.Gly2023Ser c.6067G>A missense_variant 20 0.00011259 2 15 0 1 0 2 0 0 CACNA1A constrhet 2023 S G 1 CACNA1A:2023:G:S ENST00000360228 19 13323326 rs202002033 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2021Lys p.Glu2021Lys c.6061G>A missense_variant 52 0.000299339 0 1 0 45 0 2 0 4 CACNA1A constrhet 2021 K E 1 CACNA1A:2021:E:K ENST00000360228 19 13323451 rs772988279 C T gnomAD Exomes PASS NA p.Gly2015Glu p.Gly2015Glu c.6044G>A missense_variant 5 3.95839e-05 1 0 0 0 0 4 0 0 CACNA1A constrhet 2015 E G 1 CACNA1A:2015:G:E ENST00000360228 19 13323478 rs759624463 A C gnomAD Exomes PASS NA p.Leu2006Arg p.Leu2006Arg c.6017T>G missense_variant 2 1.54648e-05 0 0 2 0 0 0 0 0 CACNA1A constrhet 2006 R L 1 CACNA1A:2006:L:R ENST00000360228 19 13323482 rs374063403 C A gnomAD Exomes PASS NA p.Ala2005Ser p.Ala2005Ser c.6013G>T missense_variant 2 1.54993e-05 0 1 0 1 0 0 0 0 CACNA1A constrhet 2005 S A 1 CACNA1A:2005:A:S ENST00000360228 19 13323482 rs374063403 C T gnomAD Exomes PASS NA p.Ala2005Thr p.Ala2005Thr c.6013G>A missense_variant 10 7.74966e-05 0 1 0 8 0 0 0 1 CACNA1A constrhet 2005 T A 1 CACNA1A:2005:A:T ENST00000360228 19 13323494 rs751947412 G A gnomAD Exomes PASS NA p.Pro2001Ser p.Pro2001Ser c.6001C>T missense_variant 7 5.33236e-05 0 5 0 0 0 2 0 0 CACNA1A constrhet 2001 S P 1 CACNA1A:2001:P:S ENST00000360228 19 13323508 rs778274864 G A gnomAD Exomes PASS NA p.Thr1996Met p.Thr1996Met c.5987C>T missense_variant 5 3.77929e-05 0 3 0 0 0 1 1 0 CACNA1A constrhet 1996 M T 1 CACNA1A:1996:T:M ENST00000360228 19 13323509 rs141963371 T C gnomAD Exomes PASS NA p.Thr1996Ala p.Thr1996Ala c.5986A>G missense_variant 8 6.02827e-05 1 1 0 0 0 5 0 1 CACNA1A constrhet 1996 A T 1 CACNA1A:1996:T:A ENST00000360228 19 13323517 rs866667085 G T gnomAD Exomes PASS NA p.Pro1993Gln p.Pro1993Gln c.5978C>A missense_variant 4 3.02929e-05 0 0 0 3 0 1 0 0 CACNA1A constrhet 1993 Q P 1 CACNA1A:1993:P:Q ENST00000360228 19 13323550 rs745775887 C T gnomAD Exomes PASS NA p.Arg1982Gln p.Arg1982Gln c.5945G>A missense_variant 2 1.62496e-05 1 0 0 0 0 1 0 0 CACNA1A constrhet 1982 Q R 1 CACNA1A:1982:R:Q ENST00000360228 19 13325055 rs1266642291 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1978Lys p.Glu1978Lys c.5932G>A missense_variant 3 1.3483e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 1978 K E 1 CACNA1A:1978:E:K ENST00000360228 19 13325058 rs772489659 G T gnomAD Exomes PASS NA p.Arg1977Ser p.Arg1977Ser c.5929C>A missense_variant 2 9.92034e-06 0 1 0 0 0 1 0 0 CACNA1A constrhet 1977 S R 1 CACNA1A:1977:R:S ENST00000360228 19 13325058 rs772489659 G A gnomAD Exomes PASS NA p.Arg1977Cys p.Arg1977Cys c.5929C>T missense_variant 3 1.48805e-05 0 0 0 0 2 1 0 0 CACNA1A constrhet 1977 C R 1 CACNA1A:1977:R:C ENST00000360228 19 13325090 rs199886234 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1966Gln p.Arg1966Gln c.5897G>A missense_variant 105 0.000465186 0 10 68 0 0 23 4 0 CACNA1A constrhet 1966 Q R 1 CACNA1A:1966:R:Q ENST00000360228 19 13325144 rs748279762 G A gnomAD Exomes PASS NA p.Thr1948Met p.Thr1948Met c.5843C>T missense_variant 4 1.95628e-05 0 0 0 1 1 1 0 1 CACNA1A constrhet 1948 M T 1 CACNA1A:1948:T:M ENST00000360228 19 13325344 rs771104002 G A gnomAD Exomes PASS NA p.Thr1937Met p.Thr1937Met c.5810C>T missense_variant 19 9.22626e-05 1 0 0 0 0 5 0 13 CACNA1A constrhet 1937 M T 1 CACNA1A:1937:T:M ENST00000360228 19 13325353 rs375365071 G C gnomAD Exomes PASS NA p.Ser1934Cys p.Ser1934Cys c.5801C>G missense_variant 3 1.45651e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 1934 C S 1 CACNA1A:1934:S:C ENST00000360228 19 13325371 rs1483005213 G A gnomAD Exomes PASS NA p.Ala1928Val p.Ala1928Val c.5783C>T missense_variant 3 1.45665e-05 0 0 0 1 0 2 0 0 CACNA1A constrhet 1928 V A 1 CACNA1A:1928:A:V ENST00000360228 19 13325386 rs771636070 C T gnomAD Exomes PASS NA p.Arg1923Gln p.Arg1923Gln c.5768G>A missense_variant 2 9.71685e-06 0 1 0 0 0 1 0 0 CACNA1A constrhet 1923 Q R 1 CACNA1A:1923:R:Q ENST00000360228 19 13325414 rs371957992 C T gnomAD Exomes PASS NA p.Asp1914Asn p.Asp1914Asn c.5740G>A missense_variant 5 2.44169e-05 2 1 0 0 0 1 1 0 CACNA1A constrhet 1914 N D 1 CACNA1A:1914:D:N ENST00000360228 19 13335496 rs1360118866 T C gnomAD Exomes PASS NA p.Ile1906Val p.Ile1906Val c.5716A>G missense_variant 2 9.86436e-06 0 0 0 0 0 0 0 2 CACNA1A constrhet 1906 V I 1 CACNA1A:1906:I:V ENST00000360228 19 13335562 rs201836062 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1884Ile p.Val1884Ile c.5650G>A missense_variant 46 0.000210573 24 16 0 4 1 1 0 0 CACNA1A constrhet 1884 I V 1 CACNA1A:1884:V:I ENST00000360228 19 13335576 rs1010331313 C T gnomAD Exomes PASS NA p.Arg1879Gln p.Arg1879Gln c.5636G>A missense_variant 2 1.04588e-05 0 2 0 0 0 0 0 0 CACNA1A constrhet 1879 Q R 1 CACNA1A:1879:R:Q ENST00000360228 19 13335585 rs776371983 C T gnomAD Exomes PASS NA p.Arg1876Gln p.Arg1876Gln c.5627G>A missense_variant 2 1.04839e-05 0 1 0 0 0 1 0 0 CACNA1A constrhet 1876 Q R 1 CACNA1A:1876:R:Q ENST00000360228 19 13338332 rs1420377277 C G gnomAD Exomes PASS NA p.Met1846Ile p.Met1846Ile c.5538G>C missense_variant 2 1.04934e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 1846 I M 1 CACNA1A:1846:M:I ENST00000360228 19 13340903 rs753229469 C T gnomAD Exomes PASS NA p.Ala1841Thr p.Ala1841Thr c.5521G>A missense_variant 4 1.94477e-05 0 4 0 0 0 0 0 0 CACNA1A constrhet 1841 T A 1 CACNA1A:1841:A:T ENST00000360228 19 13340913 rs1348448383 C G gnomAD Exomes PASS NA p.Glu1837Asp p.Glu1837Asp c.5511G>C missense_variant 3 1.45716e-05 0 3 0 0 0 0 0 0 CACNA1A constrhet 1837 D E 1 CACNA1A:1837:E:D ENST00000360228 19 13340930 rs376815942 C T gnomAD Exomes PASS NA p.Val1832Met p.Val1832Met c.5494G>A missense_variant 3 1.45613e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 1832 M V 1 CACNA1A:1832:V:M ENST00000360228 19 13340971 rs745900417 C T gnomAD Exomes PASS NA p.Arg1818Gln p.Arg1818Gln c.5453G>A missense_variant 2 9.70817e-06 1 0 0 1 0 0 0 0 CACNA1A constrhet 1818 Q R 1 CACNA1A:1818:R:Q ENST00000360228 19 13342576 rs766934604 T C gnomAD Exomes PASS NA p.Asn1783Ser p.Asn1783Ser c.5348A>G missense_variant 3 1.45661e-05 0 0 0 0 1 2 0 0 CACNA1A constrhet 1783 S N 1 CACNA1A:1783:N:S ENST00000360228 19 13342588 rs267605294 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1779Gln p.Arg1779Gln c.5336G>A missense_variant 3 1.31982e-05 1 0 0 0 0 1 0 1 CACNA1A constrhet 1779 Q R 1 CACNA1A:1779:R:Q ENST00000360228 19 13345784 rs1064795744 C T gnomAD Exomes PASS NA p.Glu1734Lys p.Glu1734Lys c.5200G>A missense_variant 2 9.70365e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 1734 K E 1 CACNA1A:1734:E:K ENST00000360228 19 13345791 rs773031818 T G gnomAD Exomes PASS NA p.Gln1731His p.Gln1731His c.5193A>C missense_variant 2 9.70356e-06 0 0 0 0 0 1 1 0 CACNA1A constrhet 1731 H Q 1 CACNA1A:1731:Q:H ENST00000360228 19 13345796 rs760499272 A G gnomAD Exomes PASS NA p.Phe1730Leu p.Phe1730Leu c.5188T>C missense_variant 7 3.39624e-05 0 0 0 0 0 0 0 7 CACNA1A constrhet 1730 L F 1 CACNA1A:1730:F:L ENST00000360228 19 13345814 rs371595464 C T gnomAD Exomes PASS NA p.Asp1724Asn p.Asp1724Asn c.5170G>A missense_variant 5 2.42591e-05 3 1 0 0 0 0 1 0 CACNA1A constrhet 1724 N D 1 CACNA1A:1724:D:N ENST00000360228 19 13345819 rs765144501 T C gnomAD Exomes PASS NA p.Asp1722Gly p.Asp1722Gly c.5165A>G missense_variant 3 1.45555e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 1722 G D 1 CACNA1A:1722:D:G ENST00000360228 19 13345826 rs537982877 C T gnomAD Exomes PASS NA p.Val1720Met p.Val1720Met c.5158G>A missense_variant 51 0.000247445 0 38 0 0 0 1 12 0 CACNA1A constrhet 1720 M V 1 CACNA1A:1720:V:M ENST00000360228 19 13345829 rs368257155 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1719Asn p.Asp1719Asn c.5155G>A missense_variant 7 3.07893e-05 1 0 0 0 0 5 0 1 CACNA1A constrhet 1719 N D 1 CACNA1A:1719:D:N ENST00000360228 19 13346061 rs371273055 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1699Thr p.Ala1699Thr c.5095G>A missense_variant 4 1.91316e-05 2 0 0 0 1 1 0 0 CACNA1A constrhet 1699 T A 1 CACNA1A:1699:A:T ENST00000360228 19 13346493 rs754294720 T C gnomAD Exomes PASS NA p.Ile1668Val p.Ile1668Val c.5002A>G missense_variant 2 9.70553e-06 1 0 0 0 0 1 0 0 CACNA1A constrhet 1668 V I 1 CACNA1A:1668:I:V ENST00000360228 19 13356055 rs539463134 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1631Val p.Ile1631Val c.4891A>G missense_variant 29 0.000127591 0 0 0 29 0 0 0 0 CACNA1A constrhet 1631 V I 1 CACNA1A:1631:I:V ENST00000360228 19 13356067 rs573209959 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1627Asn p.Asp1627Asn c.4879G>A missense_variant 2 8.80111e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 1627 N D 1 CACNA1A:1627:D:N ENST00000360228 19 13356069 rs777769751 C T gnomAD Exomes PASS NA p.Arg1626His p.Arg1626His c.4877G>A missense_variant 7 3.39822e-05 0 0 2 1 0 3 1 0 CACNA1A constrhet 1626 H R 1 CACNA1A:1626:R:H ENST00000360228 19 13356070 rs747020168 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1626Cys p.Arg1626Cys c.4876C>T missense_variant 3 1.32034e-05 0 1 1 0 0 0 0 1 CACNA1A constrhet 1626 C R 1 CACNA1A:1626:R:C ENST00000360228 19 13363835 rs781413708 A C gnomAD Exomes PASS NA p.Cys1612Trp p.Cys1612Trp c.4836T>G missense_variant 3 1.45634e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 1612 W C 1 CACNA1A:1612:C:W ENST00000360228 19 13363885 rs769043258 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1596Thr p.Ala1596Thr c.4786G>A missense_variant 4 1.76047e-05 0 0 0 0 0 4 0 0 CACNA1A constrhet 1596 T A 1 CACNA1A:1596:A:T ENST00000360228 19 13363899 rs770150171 A G gnomAD Exomes PASS NA p.Val1591Ala p.Val1591Ala c.4772T>C missense_variant 5 2.42898e-05 0 0 0 0 0 5 0 0 CACNA1A constrhet 1591 A V 1 CACNA1A:1591:V:A ENST00000360228 19 13363914 rs772515380 A T gnomAD Exomes PASS NA p.Phe1586Tyr p.Phe1586Tyr c.4757T>A missense_variant 2 9.72914e-06 0 0 0 0 0 0 0 2 CACNA1A constrhet 1586 Y F 1 CACNA1A:1586:F:Y ENST00000360228 19 13365926 rs763708646 T C gnomAD Exomes PASS NA p.Ile1580Val p.Ile1580Val c.4738A>G missense_variant 2 9.7044e-06 0 0 0 0 1 0 0 1 CACNA1A constrhet 1580 V I 1 CACNA1A:1580:I:V ENST00000360228 19 13365994 rs755172189 C T gnomAD Exomes PASS NA p.Arg1557His p.Arg1557His c.4670G>A missense_variant 3 1.45645e-05 0 1 0 0 0 1 0 1 CACNA1A constrhet 1557 H R 1 CACNA1A:1557:R:H ENST00000360228 19 13366002 rs182161386 G C gnomAD Exomes PASS NA p.Phe1554Leu p.Phe1554Leu c.4662C>G missense_variant 2 9.70817e-06 1 1 0 0 0 0 0 0 CACNA1A constrhet 1554 L F 1 CACNA1A:1554:F:L ENST00000360228 19 13366030 rs775048630 C A gnomAD Exomes PASS NA p.Arg1545Leu p.Arg1545Leu c.4634G>T missense_variant 2 9.73937e-06 0 0 1 0 0 1 0 0 CACNA1A constrhet 1545 L R 1 CACNA1A:1545:R:L ENST00000360228 19 13366046 rs761579946 C T gnomAD Exomes PASS NA p.Ala1540Thr p.Ala1540Thr c.4618G>A missense_variant 2 9.86563e-06 0 1 0 0 0 1 0 0 CACNA1A constrhet 1540 T A 1 CACNA1A:1540:A:T ENST00000360228 19 13366055 rs773209223 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1537Thr p.Ala1537Thr c.4609G>A missense_variant 3 1.34533e-05 0 0 0 1 0 2 0 0 CACNA1A constrhet 1537 T A 1 CACNA1A:1537:A:T ENST00000360228 19 13368283 rs1211294190 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1491Ile p.Val1491Ile c.4471G>A missense_variant 2 8.84134e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 1491 I V 1 CACNA1A:1491:V:I ENST00000360228 19 13368343 rs1187916307 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1471Thr p.Ala1471Thr c.4411G>A missense_variant 4 2.10968e-05 0 0 0 2 0 2 0 0 CACNA1A constrhet 1471 T A 1 CACNA1A:1471:A:T ENST00000360228 19 13370421 rs1174785840 G T gnomAD Exomes PASS NA p.Leu1449Met p.Leu1449Met c.4345C>A missense_variant 3 1.49529e-05 0 2 0 0 0 0 1 0 CACNA1A constrhet 1449 M L 1 CACNA1A:1449:L:M ENST00000360228 19 13370474 rs369440853 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1431Gln p.Arg1431Gln c.4292G>A missense_variant 5 2.2483e-05 0 0 0 0 0 5 0 0 CACNA1A constrhet 1431 Q R 1 CACNA1A:1431:R:Q ENST00000360228 19 13370510 rs574194354 T C gnomAD Exomes PASS NA p.Lys1419Arg p.Lys1419Arg c.4256A>G missense_variant 7 3.4624e-05 0 0 0 7 0 0 0 0 CACNA1A constrhet 1419 R K 1 CACNA1A:1419:K:R ENST00000360228 19 13386742 rs755279579 T G gnomAD Exomes PASS NA p.Gln1304Pro p.Gln1304Pro c.3911A>C missense_variant 8 3.88572e-05 6 2 0 0 0 0 0 0 CACNA1A constrhet 1304 P Q 1 CACNA1A:1304:Q:P ENST00000360228 19 13386752 rs779292782 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1301Ile p.Val1301Ile c.3901G>A missense_variant 2 8.8105e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 1301 I V 1 CACNA1A:1301:V:I ENST00000360228 19 13387921 rs768437763 C T gnomAD Exomes PASS NA p.Val1282Ile p.Val1282Ile c.3844G>A missense_variant 4 1.94365e-05 0 2 0 0 0 1 0 1 CACNA1A constrhet 1282 I V 1 CACNA1A:1282:V:I ENST00000360228 19 13394089 rs372970430 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1272Trp p.Arg1272Trp c.3814C>T missense_variant 2 8.79755e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 1272 W R 1 CACNA1A:1272:R:W ENST00000360228 19 13394095 rs773128667 C T gnomAD Exomes PASS NA p.Ala1270Thr p.Ala1270Thr c.3808G>A missense_variant 2 9.70478e-06 0 0 0 0 0 1 0 1 CACNA1A constrhet 1270 T A 1 CACNA1A:1270:A:T ENST00000360228 19 13394097 rs997272721 T C gnomAD Exomes PASS NA p.Asn1269Ser p.Asn1269Ser c.3806A>G missense_variant 2 9.70309e-06 1 0 0 0 0 1 0 0 CACNA1A constrhet 1269 S N 1 CACNA1A:1269:N:S ENST00000360228 19 13394119 rs776503550 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1262Thr p.Ala1262Thr c.3784G>A missense_variant 3 1.3196e-05 1 1 0 0 0 1 0 0 CACNA1A constrhet 1262 T A 1 CACNA1A:1262:A:T ENST00000360228 19 13394179 rs1275961783 G C gnomAD Exomes PASS NA p.Leu1242Val p.Leu1242Val c.3724C>G missense_variant 2 9.70666e-06 0 0 0 0 0 1 0 1 CACNA1A constrhet 1242 V L 1 CACNA1A:1242:L:V ENST00000360228 19 13394202 rs373183625 C T gnomAD Exomes PASS NA p.Arg1234His p.Arg1234His c.3701G>A missense_variant 29 0.000140778 0 0 22 2 0 3 2 0 CACNA1A constrhet 1234 H R 1 CACNA1A:1234:R:H ENST00000360228 19 13394203 rs781738239 G A gnomAD Exomes PASS NA p.Arg1234Cys p.Arg1234Cys c.3700C>T missense_variant 2 9.71034e-06 0 1 0 0 0 0 0 1 CACNA1A constrhet 1234 C R 1 CACNA1A:1234:R:C ENST00000360228 19 13395918 rs573365997 G A gnomAD Exomes PASS NA p.Pro1219Leu p.Pro1219Leu c.3656C>T missense_variant 2 9.80709e-06 1 1 0 0 0 0 0 0 CACNA1A constrhet 1219 L P 1 CACNA1A:1219:P:L ENST00000360228 19 13395925 rs372017604 T C gnomAD Exomes PASS NA p.Met1217Val p.Met1217Val c.3649A>G missense_variant 4 1.96144e-05 0 3 0 0 0 1 0 0 CACNA1A constrhet 1217 V M 1 CACNA1A:1217:M:V ENST00000360228 19 13395936 rs540667475 C T gnomAD Exomes PASS NA p.Gly1213Asp p.Gly1213Asp c.3638G>A missense_variant 2 9.80719e-06 2 0 0 0 0 0 0 0 CACNA1A constrhet 1213 D G 1 CACNA1A:1213:G:D ENST00000360228 19 13395937 rs767000559 C T gnomAD Exomes PASS NA p.Gly1213Ser p.Gly1213Ser c.3637G>A missense_variant 4 1.96144e-05 0 0 0 0 0 2 0 2 CACNA1A constrhet 1213 S G 1 CACNA1A:1213:G:S ENST00000360228 19 13395940 rs201269793 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1212Tyr p.Asp1212Tyr c.3634G>T missense_variant 6 2.66456e-05 0 2 0 0 0 4 0 0 CACNA1A constrhet 1212 Y D 1 CACNA1A:1212:D:Y ENST00000360228 19 13395945 rs763558455 C T gnomAD Exomes PASS NA p.Gly1210Glu p.Gly1210Glu c.3629G>A missense_variant 2 9.80729e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 1210 E G 1 CACNA1A:1210:G:E ENST00000360228 19 13395948 rs374286965 C T gnomAD Exomes PASS NA p.Arg1209His p.Arg1209His c.3626G>A missense_variant 11 5.3939e-05 2 0 0 2 0 2 0 5 CACNA1A constrhet 1209 H R 1 CACNA1A:1209:R:H ENST00000360228 19 13395948 rs374286965 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1209Leu p.Arg1209Leu c.3626G>T missense_variant 4 1.77642e-05 0 0 0 0 0 3 1 0 CACNA1A constrhet 1209 L R 1 CACNA1A:1209:R:L ENST00000360228 19 13395952 rs750231498 C T gnomAD Exomes PASS NA p.Asp1208Asn p.Asp1208Asn c.3622G>A missense_variant 4 1.96144e-05 0 0 0 0 0 3 1 0 CACNA1A constrhet 1208 N D 1 CACNA1A:1208:D:N ENST00000360228 19 13395967 rs375415852 C T gnomAD Exomes PASS NA p.Glu1203Lys p.Glu1203Lys c.3607G>A missense_variant 3 1.47111e-05 1 2 0 0 0 0 0 0 CACNA1A constrhet 1203 K E 1 CACNA1A:1203:E:K ENST00000360228 19 13395970 rs778928976 T C gnomAD Exomes PASS NA p.Lys1202Glu p.Lys1202Glu c.3604A>G missense_variant 3 1.47114e-05 1 0 0 0 0 0 0 2 CACNA1A constrhet 1202 E K 1 CACNA1A:1202:K:E ENST00000360228 19 13396000 rs773649403 C T gnomAD Exomes PASS NA p.Asp1192Asn p.Asp1192Asn c.3574G>A missense_variant 14 6.86598e-05 0 0 0 0 0 0 0 14 CACNA1A constrhet 1192 N D 1 CACNA1A:1192:D:N ENST00000360228 19 13396009 rs1034876149 C A gnomAD Exomes PASS NA p.Ala1189Ser p.Ala1189Ser c.3565G>T missense_variant 3 1.47167e-05 0 0 0 0 0 1 0 2 CACNA1A constrhet 1189 S A 1 CACNA1A:1189:A:S ENST00000360228 19 13397326 rs369742607 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1182Ile p.Val1182Ile c.3544G>A missense_variant 28 0.000178047 1 5 0 7 0 14 1 0 CACNA1A constrhet 1182 I V 1 CACNA1A:1182:V:I ENST00000360228 19 13397338 rs556266465 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1178Ile p.Leu1178Ile c.3532C>A missense_variant 3 1.88651e-05 0 2 0 0 0 1 0 0 CACNA1A constrhet 1178 I L 1 CACNA1A:1178:L:I ENST00000360228 19 13397338 rs556266465 G A gnomAD Exomes PASS NA p.Leu1178Phe p.Leu1178Phe c.3532C>T missense_variant 2 1.45083e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1178 F L 1 CACNA1A:1178:L:F ENST00000360228 19 13397338 rs556266465 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1178Val p.Leu1178Val c.3532C>G missense_variant 3 1.88651e-05 0 2 0 0 0 1 0 0 CACNA1A constrhet 1178 V L 1 CACNA1A:1178:L:V ENST00000360228 19 13397340 rs201789073 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1177Arg p.Pro1177Arg c.3530C>G missense_variant 13 8.00069e-05 1 0 2 0 0 6 1 3 CACNA1A constrhet 1177 R P 1 CACNA1A:1177:P:R ENST00000360228 19 13397355 rs16028 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1172Arg p.Pro1172Arg c.3515C>G missense_variant 2 1.19404e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1172 R P 1 CACNA1A:1172:P:R ENST00000360228 19 13397373 rs746222908 G A gnomAD Exomes PASS NA p.Thr1166Ile p.Thr1166Ile c.3497C>T missense_variant 3 1.93354e-05 0 0 0 0 0 1 0 2 CACNA1A constrhet 1166 I T 1 CACNA1A:1166:T:I ENST00000360228 19 13397380 rs775838621 C T gnomAD Exomes PASS NA p.Asp1164Asn p.Asp1164Asn c.3490G>A missense_variant 5 3.21999e-05 0 1 0 0 0 3 0 1 CACNA1A constrhet 1164 N D 1 CACNA1A:1164:D:N ENST00000360228 19 13397406 rs992828062 T C gnomAD Exomes PASS NA p.Asn1155Ser p.Asn1155Ser c.3464A>G missense_variant 2 1.31427e-05 0 2 0 0 0 0 0 0 CACNA1A constrhet 1155 S N 1 CACNA1A:1155:N:S ENST00000360228 19 13397413 rs201612257 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1153Glu p.Gln1153Glu c.3457C>G missense_variant 84 0.000482892 82 2 0 0 0 0 0 0 CACNA1A constrhet 1153 E Q 1 CACNA1A:1153:Q:E ENST00000360228 19 13397419 rs374932564 C T gnomAD Exomes PASS NA p.Gly1151Ser p.Gly1151Ser c.3451G>A missense_variant 8 5.28283e-05 0 2 0 1 0 2 1 2 CACNA1A constrhet 1151 S G 1 CACNA1A:1151:G:S ENST00000360228 19 13397434 rs376365775 C T gnomAD Exomes PASS NA p.Val1146Ile p.Val1146Ile c.3436G>A missense_variant 3 1.97125e-05 0 0 0 0 0 2 0 1 CACNA1A constrhet 1146 I V 1 CACNA1A:1146:V:I ENST00000360228 19 13397449 rs780535727 C T gnomAD Exomes PASS NA p.Glu1141Lys p.Glu1141Lys c.3421G>A missense_variant 4 2.64002e-05 0 2 0 0 0 2 0 0 CACNA1A constrhet 1141 K E 1 CACNA1A:1141:E:K ENST00000360228 19 13397457 rs746555911 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1138Met p.Lys1138Met c.3413A>T missense_variant 2 1.14106e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1138 M K 1 CACNA1A:1138:K:M ENST00000360228 19 13397460 rs200333359 G T gnomAD Exomes PASS NA p.Pro1137His p.Pro1137His c.3410C>A missense_variant 3 1.92797e-05 0 0 0 2 0 1 0 0 CACNA1A constrhet 1137 H P 1 CACNA1A:1137:P:H ENST00000360228 19 13397460 rs200333359 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1137Leu p.Pro1137Leu c.3410C>T missense_variant 11 6.22137e-05 11 0 0 0 0 0 0 0 CACNA1A constrhet 1137 L P 1 CACNA1A:1137:P:L ENST00000360228 19 13397460 rs200333359 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1137Arg p.Pro1137Arg c.3410C>G missense_variant 20 0.000113116 0 2 0 2 0 15 1 0 CACNA1A constrhet 1137 R P 1 CACNA1A:1137:P:R ENST00000360228 19 13397461 rs199793367 G A gnomAD Exomes PASS NA p.Pro1137Ser p.Pro1137Ser c.3409C>T missense_variant 2 1.28149e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1137 S P 1 CACNA1A:1137:P:S ENST00000360228 19 13397461 rs199793367 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1137Ala p.Pro1137Ala c.3409C>G missense_variant 79 0.000445658 3 2 0 0 2 71 0 1 CACNA1A constrhet 1137 A P 1 CACNA1A:1137:P:A ENST00000360228 19 13397464 rs764131315 G T gnomAD Exomes PASS NA p.Pro1136Thr p.Pro1136Thr c.3406C>A missense_variant 2 1.27116e-05 0 1 0 0 1 0 0 0 CACNA1A constrhet 1136 T P 1 CACNA1A:1136:P:T ENST00000360228 19 13397467 rs762006290 C T gnomAD Exomes PASS NA p.Gly1135Ser p.Gly1135Ser c.3403G>A missense_variant 3 1.90932e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 1135 S G 1 CACNA1A:1135:G:S ENST00000360228 19 13397487 rs754208553 G A gnomAD Exomes PASS NA p.Pro1128Leu p.Pro1128Leu c.3383C>T missense_variant 2 1.1725e-05 1 0 0 0 0 0 0 1 CACNA1A constrhet 1128 L P 1 CACNA1A:1128:P:L ENST00000360228 19 13397493 rs755440575 T C gnomAD Exomes PASS NA p.Asn1126Ser p.Asn1126Ser c.3377A>G missense_variant 2 1.154e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1126 S N 1 CACNA1A:1126:N:S ENST00000360228 19 13397499 rs374720207 G A gnomAD Exomes PASS NA p.Thr1124Met p.Thr1124Met c.3371C>T missense_variant 2 1.13509e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1124 M T 1 CACNA1A:1124:T:M ENST00000360228 19 13397502 rs769497214 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1123Gln p.Arg1123Gln c.3368G>A missense_variant 17 8.66357e-05 0 1 0 0 4 10 2 0 CACNA1A constrhet 1123 Q R 1 CACNA1A:1123:R:Q ENST00000360228 19 13397503 rs775079497 G A gnomAD Exomes PASS NA p.Arg1123Trp p.Arg1123Trp c.3367C>T missense_variant 3 1.69396e-05 0 0 0 0 0 1 0 2 CACNA1A constrhet 1123 W R 1 CACNA1A:1123:R:W ENST00000360228 19 13397505 rs201647627 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1122His p.Arg1122His c.3365G>A missense_variant 9 4.52698e-05 1 0 0 5 0 2 0 1 CACNA1A constrhet 1122 H R 1 CACNA1A:1122:R:H ENST00000360228 19 13397505 rs201647627 C A gnomAD Exomes PASS NA p.Arg1122Leu p.Arg1122Leu c.3365G>T missense_variant 2 1.12573e-05 0 0 0 0 0 0 0 2 CACNA1A constrhet 1122 L R 1 CACNA1A:1122:R:L ENST00000360228 19 13397506 rs774407963 G A gnomAD Exomes PASS NA p.Arg1122Cys p.Arg1122Cys c.3364C>T missense_variant 2 1.10971e-05 0 1 0 0 0 1 0 0 CACNA1A constrhet 1122 C R 1 CACNA1A:1122:R:C ENST00000360228 19 13397512 rs761908449 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1120Thr p.Ala1120Thr c.3358G>A missense_variant 9 4.44133e-05 0 1 0 4 1 2 0 1 CACNA1A constrhet 1120 T A 1 CACNA1A:1120:A:T ENST00000360228 19 13397515 rs199745070 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1119Thr p.Ala1119Thr c.3355G>A missense_variant 46 0.000224156 40 3 0 0 0 3 0 0 CACNA1A constrhet 1119 T A 1 CACNA1A:1119:A:T ENST00000360228 19 13397523 rs760744104 G A gnomAD Exomes PASS NA p.Pro1116Leu p.Pro1116Leu c.3347C>T missense_variant 9 4.69361e-05 0 0 0 9 0 0 0 0 CACNA1A constrhet 1116 L P 1 CACNA1A:1116:P:L ENST00000360228 19 13397536 rs755317765 T G gnomAD Exomes PASS NA p.Met1112Leu p.Met1112Leu c.3334A>C missense_variant 2 1.02609e-05 0 0 0 0 0 0 0 2 CACNA1A constrhet 1112 L M 1 CACNA1A:1112:M:L ENST00000360228 19 13397560 rs16027 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1104Ser p.Gly1104Ser c.3310G>A missense_variant 23717 0.108530715 536 2741 660 1164 1521 9429 528 7138 CACNA1A constrhet 1104 S G 1 CACNA1A:1104:G:S ENST00000360228 19 13397562 rs554455455 G A gnomAD Exomes PASS NA p.Pro1103Leu p.Pro1103Leu c.3308C>T missense_variant 33 0.000166359 0 0 0 0 0 4 1 28 CACNA1A constrhet 1103 L P 1 CACNA1A:1103:P:L ENST00000360228 19 13397566 rs372823282 C T gnomAD Exomes PASS NA p.Asp1102Asn p.Asp1102Asn c.3304G>A missense_variant 118 0.000595605 0 1 0 0 0 0 1 116 CACNA1A constrhet 1102 N D 1 CACNA1A:1102:D:N ENST00000360228 19 13397605 rs201311000 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1089Ser p.Gly1089Ser c.3265G>A missense_variant 6 2.70942e-05 4 1 0 0 0 0 1 0 CACNA1A constrhet 1089 S G 1 CACNA1A:1089:G:S ENST00000360228 19 13397605 rs201311000 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1089Cys p.Gly1089Cys c.3265G>T missense_variant 74 0.000334161 4 2 0 0 19 46 3 0 CACNA1A constrhet 1089 C G 1 CACNA1A:1089:G:C ENST00000360228 19 13397608 rs371820430 C T gnomAD Exomes PASS NA p.Ala1088Thr p.Ala1088Thr c.3262G>A missense_variant 4 1.99547e-05 0 0 0 0 0 4 0 0 CACNA1A constrhet 1088 T A 1 CACNA1A:1088:A:T ENST00000360228 19 13397608 rs371820430 C A gnomAD Exomes PASS NA p.Ala1088Ser p.Ala1088Ser c.3262G>T missense_variant 2 9.97735e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 1088 S A 1 CACNA1A:1088:A:S ENST00000360228 19 13397617 rs376116372 G C gnomAD Exomes PASS NA p.Leu1085Val p.Leu1085Val c.3253C>G missense_variant 2 9.93443e-06 2 0 0 0 0 0 0 0 CACNA1A constrhet 1085 V L 1 CACNA1A:1085:L:V ENST00000360228 19 13397623 rs753077104 C T gnomAD Exomes PASS NA p.Gly1083Ser p.Gly1083Ser c.3247G>A missense_variant 3 1.48665e-05 0 1 0 0 0 2 0 0 CACNA1A constrhet 1083 S G 1 CACNA1A:1083:G:S ENST00000360228 19 13397626 rs764695193 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.His1082Tyr p.His1082Tyr c.3244C>T missense_variant 4 1.78977e-05 0 0 0 4 0 0 0 0 CACNA1A constrhet 1082 Y H 1 CACNA1A:1082:H:Y ENST00000360228 19 13397632 rs577581172 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1080Thr p.Ala1080Thr c.3238G>A missense_variant 5 2.24044e-05 0 0 0 2 0 2 0 1 CACNA1A constrhet 1080 T A 1 CACNA1A:1080:A:T ENST00000360228 19 13397634 rs1064797232 G T gnomAD Exomes PASS NA p.Ala1079Asp p.Ala1079Asp c.3236C>A missense_variant 3 1.48308e-05 0 0 0 3 0 0 0 0 CACNA1A constrhet 1079 D A 1 CACNA1A:1079:A:D ENST00000360228 19 13397637 rs748935741 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1078Leu p.Ser1078Leu c.3233C>T missense_variant 4 1.78599e-05 0 0 0 4 0 0 0 0 CACNA1A constrhet 1078 L S 1 CACNA1A:1078:S:L ENST00000360228 19 13397643 rs199512932 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1076Val p.Ala1076Val c.3227C>T missense_variant 44 0.000196337 0 0 0 0 9 34 1 0 CACNA1A constrhet 1076 V A 1 CACNA1A:1076:A:V ENST00000360228 19 13397644 rs554091859 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1076Thr p.Ala1076Thr c.3226G>A missense_variant 20 8.92196e-05 2 0 1 0 0 16 0 1 CACNA1A constrhet 1076 T A 1 CACNA1A:1076:A:T ENST00000360228 19 13397671 rs1411816416 T C gnomAD Genomes NA PASS p.Asn1067Asp p.Asn1067Asp c.3199A>G missense_variant 2 9.41708e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1067 D N 1 CACNA1A:1067:N:D ENST00000360228 19 13397674 rs759700988 C T gnomAD Exomes PASS NA p.Asp1066Asn p.Asp1066Asn c.3196G>A missense_variant 2 9.82096e-06 0 0 0 0 1 1 0 0 CACNA1A constrhet 1066 N D 1 CACNA1A:1066:D:N ENST00000360228 19 13397680 rs765452604 C A gnomAD Exomes PASS NA p.Asp1064Tyr p.Asp1064Tyr c.3190G>T missense_variant 2 9.83352e-06 0 0 0 0 0 0 0 2 CACNA1A constrhet 1064 Y D 1 CACNA1A:1064:D:Y ENST00000360228 19 13397691 rs763400188 G C gnomAD Exomes PASS NA p.Pro1060Arg p.Pro1060Arg c.3179C>G missense_variant 2 9.84581e-06 0 0 0 0 1 1 0 0 CACNA1A constrhet 1060 R P 1 CACNA1A:1060:P:R ENST00000360228 19 13397692 rs969592968 G A gnomAD Exomes PASS NA p.Pro1060Ser p.Pro1060Ser c.3178C>T missense_variant 3 1.47651e-05 0 3 0 0 0 0 0 0 CACNA1A constrhet 1060 S P 1 CACNA1A:1060:P:S ENST00000360228 19 13397695 rs775079932 G A gnomAD Exomes PASS NA p.Pro1059Ser p.Pro1059Ser c.3175C>T missense_variant 9 4.43162e-05 0 0 0 0 0 9 0 0 CACNA1A constrhet 1059 S P 1 CACNA1A:1059:P:S ENST00000360228 19 13397696 rs752075131 G C gnomAD Exomes PASS NA p.Asp1058Glu p.Asp1058Glu c.3174C>G missense_variant 2 9.84611e-06 0 2 0 0 0 0 0 0 CACNA1A constrhet 1058 E D 1 CACNA1A:1058:D:E ENST00000360228 19 13397703 rs200850308 C T gnomAD Exomes PASS NA p.Arg1056His p.Arg1056His c.3167G>A missense_variant 20 9.86203e-05 0 7 0 0 0 9 2 2 CACNA1A constrhet 1056 H R 1 CACNA1A:1056:R:H ENST00000360228 19 13397704 rs187393245 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1056Cys p.Arg1056Cys c.3166C>T missense_variant 66 0.000294498 0 0 0 65 0 0 1 0 CACNA1A constrhet 1056 C R 1 CACNA1A:1056:R:C ENST00000360228 19 13397748 rs370396470 C A gnomAD Exomes PASS NA p.Gly1041Val p.Gly1041Val c.3122G>T missense_variant 3 1.49563e-05 2 1 0 0 0 0 0 0 CACNA1A constrhet 1041 V G 1 CACNA1A:1041:G:V ENST00000360228 19 13397751 rs776628272 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1040Leu p.Ser1040Leu c.3119C>T missense_variant 7 3.16436e-05 1 1 0 5 0 0 0 0 CACNA1A constrhet 1040 L S 1 CACNA1A:1040:S:L ENST00000360228 19 13397758 rs775760514 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1038Ser p.Pro1038Ser c.3112C>T missense_variant 2 9.07952e-06 0 0 0 2 0 0 0 0 CACNA1A constrhet 1038 S P 1 CACNA1A:1038:P:S ENST00000360228 19 13397764 rs762343454 C T gnomAD Exomes PASS NA p.Gly1036Arg p.Gly1036Arg c.3106G>A missense_variant 9 4.58328e-05 0 0 0 1 0 6 0 2 CACNA1A constrhet 1036 R G 1 CACNA1A:1036:G:R ENST00000360228 19 13397777 rs751528565 C G gnomAD Exomes PASS NA p.Glu1031Asp p.Glu1031Asp c.3093G>C missense_variant 2 1.05635e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 1031 D E 1 CACNA1A:1031:E:D ENST00000360228 19 13409369 rs1202322408 A T gnomAD Exomes PASS NA p.His1026Gln p.His1026Gln c.3078T>A missense_variant 2 1.64699e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 1026 Q H 1 CACNA1A:1026:H:Q ENST00000360228 19 13409384 rs1038705410 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1021Glu p.Asp1021Glu c.3063C>A missense_variant 3 2.09943e-05 3 0 0 0 0 0 0 0 CACNA1A constrhet 1021 E D 1 CACNA1A:1021:D:E ENST00000360228 19 13409394 rs762288499 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1018Pro p.Arg1018Pro c.3053G>C missense_variant 6 4.20639e-05 0 0 0 0 0 6 0 0 CACNA1A constrhet 1018 P R 1 CACNA1A:1018:R:P ENST00000360228 19 13409399 rs773821155 G C gnomAD Exomes PASS NA p.Asp1016Glu p.Asp1016Glu c.3048C>G missense_variant 10 8.30772e-05 0 0 0 0 0 0 0 10 CACNA1A constrhet 1016 E D 1 CACNA1A:1016:D:E ENST00000360228 19 13409404 rs190551509 C T gnomAD Exomes PASS NA p.Gly1015Arg p.Gly1015Arg c.3043G>A missense_variant 2 1.66165e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 1015 R G 1 CACNA1A:1015:G:R ENST00000360228 19 13409407 rs16024 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1014Lys p.Glu1014Lys c.3040G>A missense_variant 489 0.003461506 7 89 7 0 9 334 18 25 CACNA1A constrhet 1014 K E 1 CACNA1A:1014:E:K ENST00000360228 19 13409412 rs573941336 G T gnomAD Exomes PASS NA p.Thr1012Lys p.Thr1012Lys c.3035C>A missense_variant 9 7.61331e-05 0 8 0 0 0 0 1 0 CACNA1A constrhet 1012 K T 1 CACNA1A:1012:T:K ENST00000360228 19 13409419 rs28413664 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1010Ala p.Pro1010Ala c.3028C>G missense_variant 781 0.00564935 688 70 0 0 0 13 10 0 CACNA1A constrhet 1010 A P 1 CACNA1A:1010:P:A ENST00000360228 19 13409421 rs1480140651 G A gnomAD Exomes PASS NA p.Ala1009Val p.Ala1009Val c.3026C>T missense_variant 2 1.72616e-05 0 0 0 0 0 0 0 2 CACNA1A constrhet 1009 V A 1 CACNA1A:1009:A:V ENST00000360228 19 13409430 rs1268938831 C G gnomAD Exomes PASS NA p.Arg1006Pro p.Arg1006Pro c.3017G>C missense_variant 3 2.63079e-05 0 3 0 0 0 0 0 0 CACNA1A constrhet 1006 P R 1 CACNA1A:1006:R:P ENST00000360228 19 13409431 rs757026025 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1006Trp p.Arg1006Trp c.3016C>T missense_variant 6 4.47334e-05 6 0 0 0 0 0 0 0 CACNA1A constrhet 1006 W R 1 CACNA1A:1006:R:W ENST00000360228 19 13409455 rs781006387 C T gnomAD Exomes PASS NA p.Gly998Arg p.Gly998Arg c.2992G>A missense_variant 3 3.00469e-05 0 0 0 0 0 2 0 1 CACNA1A constrhet 998 R G 1 CACNA1A:998:G:R ENST00000360228 19 13409472 rs16023 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu992Val p.Glu992Val c.2975A>T missense_variant 14802 0.136436538 540 2335 686 345 1673 6618 502 2103 CACNA1A constrhet 992 V E 1 CACNA1A:992:E:V ENST00000360228 19 13409542 rs773766180 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro969Ala p.Pro969Ala c.2905C>G missense_variant 3 2.86156e-05 0 1 0 0 0 2 0 0 CACNA1A constrhet 969 A P 1 CACNA1A:969:P:A ENST00000360228 19 13409568 rs762396014 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala960Val p.Ala960Val c.2879C>T missense_variant 3 2.63556e-05 0 0 0 0 0 2 0 1 CACNA1A constrhet 960 V A 1 CACNA1A:960:A:V ENST00000360228 19 13409580 rs551380805 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg956Leu p.Arg956Leu c.2867G>T missense_variant 18 0.000146394 0 0 12 0 0 1 0 5 CACNA1A constrhet 956 L R 1 CACNA1A:956:R:L ENST00000360228 19 13409607 rs756038056 G A gnomAD Exomes PASS NA p.Pro947Leu p.Pro947Leu c.2840C>T missense_variant 2 1.55727e-05 0 0 0 0 0 1 1 0 CACNA1A constrhet 947 L P 1 CACNA1A:947:P:L ENST00000360228 19 13409622 rs1332420636 C T gnomAD Exomes PASS NA p.Ser942Asn p.Ser942Asn c.2825G>A missense_variant 2 1.35448e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 942 N S 1 CACNA1A:942:S:N ENST00000360228 19 13409635 rs771423362 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly938Arg p.Gly938Arg c.2812G>C missense_variant 9 5.00339e-05 0 0 0 0 0 9 0 0 CACNA1A constrhet 938 R G 1 CACNA1A:938:G:R ENST00000360228 19 13409643 rs768048563 C T gnomAD Exomes PASS NA p.Arg935Gln p.Arg935Gln c.2804G>A missense_variant 5 3.07696e-05 0 0 0 0 0 2 0 3 CACNA1A constrhet 935 Q R 1 CACNA1A:935:R:Q ENST00000360228 19 13409645 rs773908713 G C gnomAD Exomes PASS NA p.His934Gln p.His934Gln c.2802C>G missense_variant 3 1.81131e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 934 Q H 1 CACNA1A:934:H:Q ENST00000360228 19 13409651 rs772941423 G T gnomAD Exomes PASS NA p.His932Gln p.His932Gln c.2796C>A missense_variant 2 1.19439e-05 1 0 0 0 0 1 0 0 CACNA1A constrhet 932 Q H 1 CACNA1A:932:H:Q ENST00000360228 19 13409659 rs367882437 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg930Trp p.Arg930Trp c.2788C>T missense_variant 6 3.12507e-05 6 0 0 0 0 0 0 0 CACNA1A constrhet 930 W R 1 CACNA1A:930:R:W ENST00000360228 19 13409664 rs754998423 G A gnomAD Exomes PASS NA p.Pro928Leu p.Pro928Leu c.2783C>T missense_variant 3 1.74803e-05 3 0 0 0 0 0 0 0 CACNA1A constrhet 928 L P 1 CACNA1A:928:P:L ENST00000360228 19 13409688 rs538079885 G A gnomAD Exomes PASS NA p.Ala920Val p.Ala920Val c.2759C>T missense_variant 2 1.11653e-05 0 0 0 0 1 1 0 0 CACNA1A constrhet 920 V A 1 CACNA1A:920:A:V ENST00000360228 19 13409688 rs538079885 G C gnomAD Exomes PASS NA p.Ala920Gly p.Ala920Gly c.2759C>G missense_variant 19 0.000106071 0 0 0 19 0 0 0 0 CACNA1A constrhet 920 G A 1 CACNA1A:920:A:G ENST00000360228 19 13409696 rs16022 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu917Asp p.Glu917Asp c.2751G>C missense_variant 25369 0.126711952 1017 4130 887 1352 941 13078 724 3240 CACNA1A constrhet 917 D E 1 CACNA1A:917:E:D ENST00000360228 19 13409706 rs373189944 C G gnomAD Exomes PASS NA p.Gly914Ala p.Gly914Ala c.2741G>C missense_variant 12 6.62983e-05 0 0 0 0 0 0 0 12 CACNA1A constrhet 914 A G 1 CACNA1A:914:G:A ENST00000360228 19 13409710 rs16020 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro913Ser p.Pro913Ser c.2737C>T missense_variant 384 0.001897346 353 22 0 0 0 3 4 2 CACNA1A constrhet 913 S P 1 CACNA1A:913:P:S ENST00000360228 19 13409718 rs953766694 A C gnomAD Exomes PASS NA p.Leu910Arg p.Leu910Arg c.2729T>G missense_variant 4 2.20403e-05 0 4 0 0 0 0 0 0 CACNA1A constrhet 910 R L 1 CACNA1A:910:L:R ENST00000360228 19 13409730 rs776495488 C T gnomAD Exomes PASS NA p.Arg906Gln p.Arg906Gln c.2717G>A missense_variant 2 1.1091e-05 0 1 0 1 0 0 0 0 CACNA1A constrhet 906 Q R 1 CACNA1A:906:R:Q ENST00000360228 19 13409740 rs765300713 G A gnomAD Exomes PASS NA p.His903Tyr p.His903Tyr c.2707C>T missense_variant 4 2.22866e-05 0 0 0 0 0 0 0 4 CACNA1A constrhet 903 Y H 1 CACNA1A:903:H:Y ENST00000360228 19 13409749 rs764313309 C T gnomAD Exomes PASS NA p.Glu900Lys p.Glu900Lys c.2698G>A missense_variant 3 1.68294e-05 0 3 0 0 0 0 0 0 CACNA1A constrhet 900 K E 1 CACNA1A:900:E:K ENST00000360228 19 13409755 rs751726770 C T gnomAD Exomes PASS NA p.Gly898Ser p.Gly898Ser c.2692G>A missense_variant 8 4.51829e-05 0 4 0 0 0 4 0 0 CACNA1A constrhet 898 S G 1 CACNA1A:898:G:S ENST00000360228 19 13409760 rs121908242 G A gnomAD Exomes PASS NA p.Pro896Leu p.Pro896Leu c.2687C>T missense_variant 12 6.8483e-05 0 12 0 0 0 0 0 0 CACNA1A constrhet 896 L P 1 CACNA1A:896:P:L ENST00000360228 19 13409760 rs121908242 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro896Arg p.Pro896Arg c.2687C>G missense_variant 229 0.001165762 1 6 8 0 0 144 4 66 CACNA1A constrhet 896 R P 1 CACNA1A:896:P:R ENST00000360228 19 13409769 rs374664760 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg893Gln p.Arg893Gln c.2678G>A missense_variant 198 0.001034818 107 42 43 0 0 4 2 0 CACNA1A constrhet 893 Q R 1 CACNA1A:893:R:Q ENST00000360228 19 13409770 rs1262547488 G A gnomAD Exomes PASS NA p.Arg893Trp p.Arg893Trp c.2677C>T missense_variant 4 2.3512e-05 2 0 0 0 0 2 0 0 CACNA1A constrhet 893 W R 1 CACNA1A:893:R:W ENST00000360228 19 13409803 rs770618033 G A gnomAD Exomes PASS NA p.Pro882Ser p.Pro882Ser c.2644C>T missense_variant 2 1.2559e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 882 S P 1 CACNA1A:882:P:S ENST00000360228 19 13409821 rs763054302 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly876Ser p.Gly876Ser c.2626G>A missense_variant 13 7.01247e-05 0 1 8 0 0 4 0 0 CACNA1A constrhet 876 S G 1 CACNA1A:876:G:S ENST00000360228 19 13409830 rs750660386 C A gnomAD Exomes PASS NA p.Gly873Cys p.Gly873Cys c.2617G>T missense_variant 2 1.1609e-05 2 0 0 0 0 0 0 0 CACNA1A constrhet 873 C G 1 CACNA1A:873:G:C ENST00000360228 19 13409847 rs754326939 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg867Pro p.Arg867Pro c.2600G>C missense_variant 3 1.49194e-05 3 0 0 0 0 0 0 0 CACNA1A constrhet 867 P R 1 CACNA1A:867:R:P ENST00000360228 19 13409853 rs905945538 T A gnomAD Exomes PASS NA p.His865Leu p.His865Leu c.2594A>T missense_variant 2 1.08523e-05 0 2 0 0 0 0 0 0 CACNA1A constrhet 865 L H 1 CACNA1A:865:H:L ENST00000360228 19 13409860 rs777076641 G A gnomAD Exomes PASS NA p.Arg863Cys p.Arg863Cys c.2587C>T missense_variant 2 1.06485e-05 0 0 0 1 0 1 0 0 CACNA1A constrhet 863 C R 1 CACNA1A:863:R:C ENST00000360228 19 13409860 rs777076641 G T gnomAD Exomes PASS NA p.Arg863Ser p.Arg863Ser c.2587C>A missense_variant 3 1.59727e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 863 S R 1 CACNA1A:863:R:S ENST00000360228 19 13409892 rs749181735 T C gnomAD Exomes PASS NA p.Gln852Arg p.Gln852Arg c.2555A>G missense_variant 2 1.00697e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 852 R Q 1 CACNA1A:852:Q:R ENST00000360228 19 13409899 rs1270399331 C T gnomAD Exomes PASS NA p.Gly850Ser p.Gly850Ser c.2548G>A missense_variant 2 1.00268e-05 0 1 0 0 0 0 0 1 CACNA1A constrhet 850 S G 1 CACNA1A:850:G:S ENST00000360228 19 13409923 rs767534576 C T gnomAD Exomes PASS NA p.Glu842Lys p.Glu842Lys c.2524G>A missense_variant 2 9.9004e-06 0 0 1 0 0 0 0 1 CACNA1A constrhet 842 K E 1 CACNA1A:842:E:K ENST00000360228 19 13409926 rs1057522204 C A gnomAD Exomes PASS NA p.Ala841Ser p.Ala841Ser c.2521G>T missense_variant 2 9.88357e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 841 S A 1 CACNA1A:841:A:S ENST00000360228 19 13409931 rs773476849 C T gnomAD Exomes PASS NA p.Arg839Gln p.Arg839Gln c.2516G>A missense_variant 6 2.95293e-05 0 0 0 5 0 0 0 1 CACNA1A constrhet 839 Q R 1 CACNA1A:839:R:Q ENST00000360228 19 13409946 rs201666606 T G gnomAD Exomes PASS NA p.Asn834Thr p.Asn834Thr c.2501A>C missense_variant 17 8.30394e-05 2 3 0 0 1 10 0 1 CACNA1A constrhet 834 T N 1 CACNA1A:834:N:T ENST00000360228 19 13409964 rs753196787 T C gnomAD Exomes PASS NA p.Gln828Arg p.Gln828Arg c.2483A>G missense_variant 4 1.95015e-05 0 0 0 2 0 2 0 0 CACNA1A constrhet 828 R Q 1 CACNA1A:828:Q:R ENST00000360228 19 13410004 rs779928926 T C gnomAD Exomes PASS NA p.Met815Val p.Met815Val c.2443A>G missense_variant 3 1.46252e-05 0 0 0 0 0 2 1 0 CACNA1A constrhet 815 V M 1 CACNA1A:815:M:V ENST00000360228 19 13410013 rs369084322 G A gnomAD Exomes PASS NA p.Arg812Trp p.Arg812Trp c.2434C>T missense_variant 4 1.95341e-05 1 3 0 0 0 0 0 0 CACNA1A constrhet 812 W R 1 CACNA1A:812:R:W ENST00000360228 19 13410025 rs772177961 T C gnomAD Exomes PASS NA p.Thr808Ala p.Thr808Ala c.2422A>G missense_variant 2 9.7789e-06 0 0 0 0 0 1 0 1 CACNA1A constrhet 808 A T 1 CACNA1A:808:T:A ENST00000360228 19 13410040 rs373107804 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Trp803Arg p.Trp803Arg c.2407T>C missense_variant 2 8.88644e-06 0 0 0 0 0 1 0 1 CACNA1A constrhet 803 R W 1 CACNA1A:803:W:R ENST00000360228 19 13410043 rs760816963 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg802Ser p.Arg802Ser c.2404C>A missense_variant 10 4.45268e-05 0 1 0 0 0 7 1 1 CACNA1A constrhet 802 S R 1 CACNA1A:802:R:S ENST00000360228 19 13410054 rs1060499675 T C gnomAD Exomes PASS NA p.Asp798Gly p.Asp798Gly c.2393A>G missense_variant 2 9.86962e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 798 G D 1 CACNA1A:798:D:G ENST00000360228 19 13410055 rs1380195853 C G gnomAD Exomes PASS NA p.Asp798His p.Asp798His c.2392G>C missense_variant 2 9.86836e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 798 H D 1 CACNA1A:798:D:H ENST00000360228 19 13410056 rs370746809 C T gnomAD Exomes PASS NA p.Met797Ile p.Met797Ile c.2391G>A missense_variant 2 9.87099e-06 2 0 0 0 0 0 0 0 CACNA1A constrhet 797 I M 1 CACNA1A:797:M:I ENST00000360228 19 13410072 rs765564222 G A gnomAD Exomes PASS NA p.Ala792Val p.Ala792Val c.2375C>T missense_variant 2 9.94708e-06 0 0 0 1 0 0 0 1 CACNA1A constrhet 792 V A 1 CACNA1A:792:A:V ENST00000360228 19 13410073 rs753248182 C T gnomAD Exomes PASS NA p.Ala792Thr p.Ala792Thr c.2374G>A missense_variant 3 1.49306e-05 0 0 0 0 0 0 0 3 CACNA1A constrhet 792 T A 1 CACNA1A:792:A:T ENST00000360228 19 13410139 rs376308062 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala770Thr p.Ala770Thr c.2308G>A missense_variant 3 1.39232e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 770 T A 1 CACNA1A:770:A:T ENST00000360228 19 13410143 rs771905201 C G gnomAD Exomes PASS NA p.Lys768Asn p.Lys768Asn c.2304G>C missense_variant 2 1.03215e-05 0 0 0 2 0 0 0 0 CACNA1A constrhet 768 N K 1 CACNA1A:768:K:N ENST00000360228 19 13411380 rs762466161 T C gnomAD Exomes PASS NA p.Asn755Asp p.Asn755Asp c.2263A>G missense_variant 7 3.39644e-05 0 7 0 0 0 0 0 0 CACNA1A constrhet 755 D N 1 CACNA1A:755:N:D ENST00000360228 19 13411385 rs200355966 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala753Val p.Ala753Val c.2258C>T missense_variant 5 2.19923e-05 0 0 0 3 0 2 0 0 CACNA1A constrhet 753 V A 1 CACNA1A:753:A:V ENST00000360228 19 13411386 rs17846944 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala753Thr p.Ala753Thr c.2257G>A missense_variant 6 2.63903e-05 0 0 0 0 0 6 0 0 CACNA1A constrhet 753 T A 1 CACNA1A:753:A:T ENST00000360228 19 13411451 rs16019 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu731Ala p.Glu731Ala c.2192A>C missense_variant 2378 0.010459552 41 144 38 0 428 1475 81 171 CACNA1A constrhet 731 A E 1 CACNA1A:731:E:A ENST00000360228 19 13414613 rs775081414 A G gnomAD Exomes PASS NA p.Ile691Thr p.Ile691Thr c.2072T>C missense_variant 2 9.70431e-06 2 0 0 0 0 0 0 0 CACNA1A constrhet 691 T I 1 CACNA1A:691:I:T ENST00000360228 19 13418965 rs577006493 C T gnomAD Exomes PASS NA p.Ala628Thr p.Ala628Thr c.1882G>A missense_variant 2 9.70968e-06 1 0 0 0 0 1 0 0 CACNA1A constrhet 628 T A 1 CACNA1A:628:A:T ENST00000360228 19 13418971 rs1346036017 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val626Ile p.Val626Ile c.1876G>A missense_variant 3 1.32021e-05 0 0 0 0 0 1 0 2 CACNA1A constrhet 626 I V 1 CACNA1A:626:V:I ENST00000360228 19 13419037 rs756562814 C T gnomAD Exomes PASS NA p.Val604Ile p.Val604Ile c.1810G>A missense_variant 3 1.45887e-05 0 0 0 0 0 2 0 1 CACNA1A constrhet 604 I V 1 CACNA1A:604:V:I ENST00000360228 19 13419303 rs776862279 T C gnomAD Exomes PASS NA p.Ile570Val p.Ile570Val c.1708A>G missense_variant 2 9.72271e-06 1 0 0 0 0 0 0 1 CACNA1A constrhet 570 V I 1 CACNA1A:570:I:V ENST00000360228 19 13423523 rs760366437 C T gnomAD Exomes PASS NA p.Arg543Gln p.Arg543Gln c.1628G>A missense_variant 5 2.63544e-05 0 0 0 1 0 0 0 4 CACNA1A constrhet 543 Q R 1 CACNA1A:543:R:Q ENST00000360228 19 13423526 rs753564161 G A gnomAD Exomes PASS NA p.Thr542Met p.Thr542Met c.1625C>T missense_variant 3 1.58138e-05 0 0 0 1 0 2 0 0 CACNA1A constrhet 542 M T 1 CACNA1A:542:T:M ENST00000360228 19 13423540 rs752572390 C A gnomAD Exomes PASS NA p.Met537Ile p.Met537Ile c.1611G>T missense_variant 3 1.56868e-05 0 0 0 0 0 1 1 1 CACNA1A constrhet 537 I M 1 CACNA1A:537:M:I ENST00000360228 19 13423563 rs374764234 T A gnomAD Exomes PASS NA p.Met530Leu p.Met530Leu c.1588A>T missense_variant 2 1.08287e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 530 L M 1 CACNA1A:530:M:L ENST00000360228 19 13423592 rs886039322 T C gnomAD Exomes PASS NA p.Tyr520Cys p.Tyr520Cys c.1559A>G missense_variant 2 1.0808e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 520 C Y 1 CACNA1A:520:Y:C ENST00000360228 19 13427935 rs185034915 C T gnomAD Exomes PASS NA p.Asp516Asn p.Asp516Asn c.1546G>A missense_variant 5 2.44743e-05 0 2 0 0 0 1 0 2 CACNA1A constrhet 516 N D 1 CACNA1A:516:D:N ENST00000360228 19 13427947 rs375210532 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu512Lys p.Glu512Lys c.1534G>A missense_variant 5 2.20961e-05 2 0 0 0 0 1 1 1 CACNA1A constrhet 512 K E 1 CACNA1A:512:E:K ENST00000360228 19 13427968 rs750557478 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile505Val p.Ile505Val c.1513A>G missense_variant 4 1.76284e-05 1 0 0 0 0 2 0 1 CACNA1A constrhet 505 V I 1 CACNA1A:505:I:V ENST00000360228 19 13428039 rs763944721 C T gnomAD Exomes PASS NA p.Arg481His p.Arg481His c.1442G>A missense_variant 3 1.45852e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 481 H R 1 CACNA1A:481:R:H ENST00000360228 19 13428040 rs377011125 G A gnomAD Exomes PASS NA p.Arg481Cys p.Arg481Cys c.1441C>T missense_variant 3 1.45802e-05 0 0 0 0 0 2 0 1 CACNA1A constrhet 481 C R 1 CACNA1A:481:R:C ENST00000360228 19 13428042 rs761827501 C T gnomAD Exomes PASS NA p.Arg480His p.Arg480His c.1439G>A missense_variant 2 9.72091e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 480 H R 1 CACNA1A:480:R:H ENST00000360228 19 13428054 rs755107633 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg476His p.Arg476His c.1427G>A missense_variant 7 3.08324e-05 0 4 0 0 0 2 0 1 CACNA1A constrhet 476 H R 1 CACNA1A:476:R:H ENST00000360228 19 13428087 rs544363291 G A gnomAD Exomes PASS NA p.Ser465Leu p.Ser465Leu c.1394C>T missense_variant 5 2.42973e-05 0 2 0 0 0 1 0 2 CACNA1A constrhet 465 L S 1 CACNA1A:465:S:L ENST00000360228 19 13428104 rs769335170 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser459Arg p.Ser459Arg c.1377T>G missense_variant 2 8.81057e-06 1 0 0 0 0 1 0 0 CACNA1A constrhet 459 R S 1 CACNA1A:459:S:R ENST00000360228 19 13428108 rs1239292406 T A gnomAD Exomes PASS NA p.Lys458Ile p.Lys458Ile c.1373A>T missense_variant 2 9.72016e-06 1 0 0 0 0 1 0 0 CACNA1A constrhet 458 I K 1 CACNA1A:458:K:I ENST00000360228 19 13428112 rs774203605 T C gnomAD Exomes PASS NA p.Ile457Val p.Ile457Val c.1369A>G missense_variant 7 3.40311e-05 0 0 0 0 0 0 0 7 CACNA1A constrhet 457 V I 1 CACNA1A:457:I:V ENST00000360228 19 13428120 rs561858384 C T gnomAD Exomes PASS NA p.Arg454Gln p.Arg454Gln c.1361G>A missense_variant 5 2.43546e-05 0 0 0 0 0 5 0 0 CACNA1A constrhet 454 Q R 1 CACNA1A:454:R:Q ENST00000360228 19 13428124 rs41276886 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala453Thr p.Ala453Thr c.1357G>A missense_variant 955 0.004221554 10 29 3 0 322 532 37 22 CACNA1A constrhet 453 T A 1 CACNA1A:453:A:T ENST00000360228 19 13428133 rs1308599413 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser450Pro p.Ser450Pro c.1348T>C missense_variant 2 8.85277e-06 0 0 0 0 2 0 0 0 CACNA1A constrhet 450 P S 1 CACNA1A:450:S:P ENST00000360228 19 13441058 rs1194605924 C A gnomAD Exomes PASS NA p.Gly449Cys p.Gly449Cys c.1345G>T missense_variant 2 1.45894e-05 0 0 0 0 0 0 0 2 CACNA1A constrhet 449 C G 1 CACNA1A:449:G:C ENST00000360228 19 13441076 rs866479368 C T gnomAD Exomes PASS NA p.Ala443Thr p.Ala443Thr c.1327G>A missense_variant 2 1.41483e-05 0 2 0 0 0 0 0 0 CACNA1A constrhet 443 T A 1 CACNA1A:443:A:T ENST00000360228 19 13441097 rs759782636 C T gnomAD Exomes PASS NA p.Glu436Lys p.Glu436Lys c.1306G>A missense_variant 6 4.11686e-05 1 0 0 0 0 3 0 2 CACNA1A constrhet 436 K E 1 CACNA1A:436:E:K ENST00000360228 19 13441130 rs1270176463 T C gnomAD Exomes PASS NA p.Ile425Val p.Ile425Val c.1273A>G missense_variant 2 1.36988e-05 0 0 0 0 0 1 0 1 CACNA1A constrhet 425 V I 1 CACNA1A:425:I:V ENST00000360228 19 13441141 rs752902118 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg421Gln p.Arg421Gln c.1262G>A missense_variant 20 0.0001229 0 1 0 17 0 1 1 0 CACNA1A constrhet 421 Q R 1 CACNA1A:421:R:Q ENST00000360228 19 13443692 rs371138043 G C gnomAD Exomes PASS NA p.Pro416Ala p.Pro416Ala c.1246C>G missense_variant 3 1.45889e-05 1 0 0 0 0 2 0 0 CACNA1A constrhet 416 A P 1 CACNA1A:416:P:A ENST00000360228 19 13443697 rs1354924503 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg414Lys p.Arg414Lys c.1241G>A missense_variant 2 8.81422e-06 0 1 0 0 0 1 0 0 CACNA1A constrhet 414 K R 1 CACNA1A:414:R:K ENST00000360228 19 13443713 rs187259531 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr409Pro p.Thr409Pro c.1225A>C missense_variant 2 8.81414e-06 0 2 0 0 0 0 0 0 CACNA1A constrhet 409 P T 1 CACNA1A:409:T:P ENST00000360228 19 13443725 rs121908245 C T gnomAD Exomes PASS NA p.Ala405Thr p.Ala405Thr c.1213G>A missense_variant 2 9.73634e-06 0 0 0 0 0 0 0 2 CACNA1A constrhet 405 T A 1 CACNA1A:405:A:T ENST00000360228 19 13445201 rs745753973 A C gnomAD Exomes PASS NA p.Ser397Ala p.Ser397Ala c.1189T>G missense_variant 2 9.70506e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 397 A S 1 CACNA1A:397:S:A ENST00000360228 19 13445219 rs749309558 C T gnomAD Exomes PASS NA p.Gly391Arg p.Gly391Arg c.1171G>A missense_variant 2 9.7044e-06 0 2 0 0 0 0 0 0 CACNA1A constrhet 391 R G 1 CACNA1A:391:G:R ENST00000360228 19 13445248 rs772354342 C T gnomAD Exomes PASS NA p.Arg381Gln p.Arg381Gln c.1142G>A missense_variant 2 9.7044e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 381 Q R 1 CACNA1A:381:R:Q ENST00000360228 19 13445249 rs773593740 G A gnomAD Exomes PASS NA p.Arg381Trp p.Arg381Trp c.1141C>T missense_variant 12 5.82276e-05 0 0 0 0 1 11 0 0 CACNA1A constrhet 381 W R 1 CACNA1A:381:R:W ENST00000360228 19 13470421 rs757999563 T C gnomAD Exomes PASS NA p.Asn326Ser p.Asn326Ser c.977A>G missense_variant 2 9.92162e-06 0 0 0 0 0 1 0 1 CACNA1A constrhet 326 S N 1 CACNA1A:326:N:S ENST00000360228 19 13470602 rs17846908 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly266Ser p.Gly266Ser c.796G>A missense_variant 45 0.000331028 0 0 0 38 0 2 1 4 CACNA1A constrhet 266 S G 1 CACNA1A:266:G:S ENST00000360228 19 13476170 rs1005732031 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met249Val p.Met249Val c.745A>G missense_variant 2 8.80615e-06 0 0 0 0 0 2 0 0 CACNA1A constrhet 249 V M 1 CACNA1A:249:M:V ENST00000360228 19 13476283 rs1085307866 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser211Asn p.Ser211Asn c.632G>A missense_variant 3 1.32392e-05 0 2 0 0 0 0 1 0 CACNA1A constrhet 211 N S 1 CACNA1A:211:S:N ENST00000360228 19 13565953 rs753467037 C T gnomAD Exomes PASS NA p.Asp123Asn p.Asp123Asn c.367G>A missense_variant 2 9.70666e-06 0 2 0 0 0 0 0 0 CACNA1A constrhet 123 N D 1 CACNA1A:123:D:N ENST00000360228 19 13565974 rs778725158 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala116Ser p.Ala116Ser c.346G>T missense_variant 3 1.3198e-05 0 0 0 3 0 0 0 0 CACNA1A constrhet 116 S A 1 CACNA1A:116:A:S ENST00000360228 19 13565983 rs746955115 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile113Val p.Ile113Val c.337A>G missense_variant 4 1.75937e-05 0 0 0 0 0 4 0 0 CACNA1A constrhet 113 V I 1 CACNA1A:113:I:V ENST00000360228 19 13616785 rs746902081 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn85Ser p.Asn85Ser c.254A>G missense_variant 2 8.83541e-06 1 0 0 0 0 0 1 0 CACNA1A constrhet 85 S N 1 CACNA1A:85:N:S ENST00000360228 19 13616825 rs775562753 G A gnomAD Exomes PASS NA p.Leu72Phe p.Leu72Phe c.214C>T missense_variant 2 9.72829e-06 0 0 0 0 0 1 0 1 CACNA1A constrhet 72 F L 1 CACNA1A:72:L:F ENST00000360228 19 13616836 rs576099495 C T gnomAD Exomes PASS NA p.Arg68Gln p.Arg68Gln c.203G>A missense_variant 4 1.94575e-05 0 0 0 0 0 1 0 3 CACNA1A constrhet 68 Q R 1 CACNA1A:68:R:Q ENST00000360228 19 13616885 rs758952079 T C gnomAD Exomes PASS NA p.Met52Val p.Met52Val c.154A>G missense_variant 3 1.4626e-05 0 0 0 0 0 2 0 1 CACNA1A constrhet 52 V M 1 CACNA1A:52:M:V ENST00000360228 19 13616909 rs201398669 C T gnomAD Exomes PASS NA p.Ala44Thr p.Ala44Thr c.130G>A missense_variant 7 3.45253e-05 0 0 0 0 0 7 0 0 CACNA1A constrhet 44 T A 1 CACNA1A:44:A:T ENST00000360228 19 13616917 rs751376977 T A gnomAD Exomes PASS NA p.Gln41Leu p.Gln41Leu c.122A>T missense_variant 3 1.49714e-05 0 0 0 0 0 3 0 0 CACNA1A constrhet 41 L Q 1 CACNA1A:41:Q:L ENST00000360228 19 13616921 rs1240542236 C A gnomAD Exomes PASS NA p.Gly40Trp p.Gly40Trp c.118G>T missense_variant 2 1.0007e-05 0 0 0 0 0 2 0 0 CACNA1A constrhet 40 W G 1 CACNA1A:40:G:W ENST00000360228 19 13616930 rs780987148 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg37Trp p.Arg37Trp c.109C>T missense_variant 2 9.37251e-06 0 0 0 2 0 0 0 0 CACNA1A constrhet 37 W R 1 CACNA1A:37:R:W ENST00000360228 19 13616935 rs756090706 C T gnomAD Exomes PASS NA p.Gly35Asp p.Gly35Asp c.104G>A missense_variant 2 1.04659e-05 0 0 0 0 1 1 0 0 CACNA1A constrhet 35 D G 1 CACNA1A:35:G:D ENST00000360228 19 13616977 rs15999 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala21Val p.Ala21Val c.62C>T missense_variant 125 0.000859887 0 1 0 123 0 0 1 0 CACNA1A constrhet 21 V A 1 CACNA1A:21:A:V ENST00000360228 19 13617034 rs927310190 G A gnomAD Exomes PASS NA p.Ala2Val p.Ala2Val c.5C>T missense_variant 2 3.02654e-05 1 0 0 0 0 0 0 1 CACNA1A constrhet 2 V A 1 CACNA1A:2:A:V ENST00000360228 2 166847797 rs371243629 T G gnomAD Exomes PASS NA p.Lys1996Asn p.Lys1996Asn c.5988A>C missense_variant segdup 2 9.63001483022284e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1996 N K 1 SCN1A:1996:K:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847808 rs751750112 T C gnomAD Exomes PASS NA p.Ile1993Val p.Ile1993Val c.5977A>G missense_variant segdup 2 9.62593612228789e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1993 V I 1 SCN1A:1993:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847820 rs781370341 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1989Met p.Val1989Met c.5965G>A missense_variant segdup 4 1.74654184714266e-05 0 0 0 0 0 4 0 0 SCN1A constrhet 1989 M V 1 SCN1A:1989:V:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847822 rs769477807 C T gnomAD Exomes PASS NA p.Arg1988Gln p.Arg1988Gln c.5963G>A missense_variant segdup 3 1.44414064004313e-05 0 1 0 1 0 1 0 0 SCN1A constrhet 1988 Q R 1 SCN1A:1988:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847834 rs146733308 G A gnomAD Exomes PASS NA p.Pro1984Leu p.Pro1984Leu c.5951C>T missense_variant segdup 2 9.62982935942375e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 1984 L P 1 SCN1A:1984:P:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847834 rs146733308 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1984His p.Pro1984His c.5951C>A missense_variant segdup 45 0.000196566636089634 44 0 0 1 0 0 0 0 SCN1A constrhet 1984 H P 1 SCN1A:1984:P:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847843 rs148986284 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1981Asp p.Ala1981Asp c.5942C>A missense_variant segdup 2 8.73728724705553e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 1981 D A 1 SCN1A:1981:A:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847873 rs771936735 T C gnomAD Exomes PASS NA p.Glu1971Gly p.Glu1971Gly c.5912A>G missense_variant segdup 4 1.92609570769572e-05 0 4 0 0 0 0 0 0 SCN1A constrhet 1971 G E 1 SCN1A:1971:E:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847908 rs763997333 C A gnomAD Exomes PASS NA p.Met1959Ile p.Met1959Ile c.5877G>T missense_variant segdup 3 1.44343190369422e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 1959 I M 1 SCN1A:1959:M:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847915 rs121918802 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1957Gly p.Glu1957Gly c.5870A>G missense_variant segdup 30 0.000130938040119415 0 5 0 0 1 23 1 0 SCN1A constrhet 1957 G E 1 SCN1A:1957:E:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847921 rs35735053 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1955Thr p.Ile1955Thr c.5864T>C missense_variant segdup 579 0.00252723653886445 549 26 0 0 0 0 4 0 SCN1A constrhet 1955 T I 1 SCN1A:1955:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847934 rs376656165 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1951Ser p.Ala1951Ser c.5851G>T missense_variant segdup 2 8.72859312536006e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1951 S A 1 SCN1A:1951:A:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847940 rs1216022727 C T gnomAD Exomes PASS NA p.Gly1949Ser p.Gly1949Ser c.5845G>A missense_variant segdup 2 9.61963945591319e-06 0 2 0 0 0 0 0 0 SCN1A constrhet 1949 S G 1 SCN1A:1949:G:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847951 rs767935681 T C gnomAD Exomes PASS NA p.Asn1945Ser p.Asn1945Ser c.5834A>G missense_variant segdup 4 1.92390938386802e-05 0 4 0 0 0 0 0 0 SCN1A constrhet 1945 S N 1 SCN1A:1945:N:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847953 rs1255900122 T A gnomAD Exomes PASS NA p.Lys1944Asn p.Lys1944Asn c.5832A>T missense_variant segdup 2 9.61871417028972e-06 0 1 0 0 0 0 1 0 SCN1A constrhet 1944 N K 1 SCN1A:1944:K:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847963 rs756845310 G A gnomAD Exomes PASS NA p.Thr1941Met p.Thr1941Met c.5822C>T missense_variant segdup 6 2.88511473139582e-05 2 0 0 0 0 3 0 1 SCN1A constrhet 1941 M T 1 SCN1A:1941:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847972 rs915676341 G A gnomAD Exomes PASS NA p.Ala1938Val p.Ala1938Val c.5813C>T missense_variant segdup 2 9.61519970769793e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1938 V A 1 SCN1A:1938:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847987 rs556893466 C T gnomAD Exomes PASS NA p.Arg1933Gln p.Arg1933Gln c.5798G>A missense_variant segdup 2 9.61593938111814e-06 0 0 0 0 0 1 1 0 SCN1A constrhet 1933 Q R 1 SCN1A:1933:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847987 rs556893466 C A gnomAD Exomes PASS NA p.Arg1933Leu p.Arg1933Leu c.5798G>T missense_variant segdup 4 1.92318787622363e-05 0 0 0 4 0 0 0 0 SCN1A constrhet 1933 L R 1 SCN1A:1933:R:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166847998 rs371253263 G C gnomAD Exomes PASS NA p.His1929Gln p.His1929Gln c.5787C>G missense_variant segdup 2 9.6142752759297e-06 0 2 0 0 0 0 0 0 SCN1A constrhet 1929 Q H 1 SCN1A:1929:H:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848003 rs121917956 G A gnomAD Exomes PASS NA p.Arg1928Cys p.Arg1928Cys c.5782C>T missense_variant segdup 4 1.9226886878611e-05 0 1 0 0 0 1 0 2 SCN1A constrhet 1928 C R 1 SCN1A:1928:R:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848003 rs121917956 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1928Gly p.Arg1928Gly c.5782C>G missense_variant segdup 312 0.00136072222949104 3 126 0 0 0 163 20 0 SCN1A constrhet 1928 G R 1 SCN1A:1928:R:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848012 rs761690089 C T gnomAD Exomes PASS NA p.Ala1925Thr p.Ala1925Thr c.5773G>A missense_variant segdup 2 9.61325860626977e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1925 T A 1 SCN1A:1925:A:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848014 rs3749029 C T gnomAD Exomes PASS NA p.Arg1924His p.Arg1924His c.5771G>A missense_variant segdup 2 9.61335102189921e-06 0 0 0 0 0 1 0 1 SCN1A constrhet 1924 H R 1 SCN1A:1924:R:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848077 rs764501421 T C gnomAD Genomes NA PASS p.Tyr1903Cys p.Tyr1903Cys c.5708A>G missense_variant segdup 2 9.40822278671559e-05 0 0 0 0 0 2 0 0 SCN1A constrhet 1903 C Y 1 SCN1A:1903:Y:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848104 rs562208324 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1894Thr p.Met1894Thr c.5681T>C missense_variant segdup 17 7.41367430420486e-05 0 0 0 0 0 0 1 16 SCN1A constrhet 1894 T M 1 SCN1A:1894:M:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848134 rs1188972480 G A gnomAD Exomes PASS NA p.Ala1884Val p.Ala1884Val c.5651C>T missense_variant segdup 2 9.61372070218616e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 1884 V A 1 SCN1A:1884:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848146 rs201905405 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1880Glu p.Gly1880Glu c.5639G>A missense_variant segdup 16 6.97824532021423e-05 0 0 0 0 0 15 1 0 SCN1A constrhet 1880 E G 1 SCN1A:1880:G:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848151 rs748090629 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1878Asp p.Glu1878Asp c.5634G>T missense_variant segdup 11 4.79766920506983e-05 0 0 0 0 8 2 1 0 SCN1A constrhet 1878 D E 1 SCN1A:1878:E:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848153 rs148703212 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1878Lys p.Glu1878Lys c.5632G>A missense_variant segdup 11 4.79754365764728e-05 0 0 0 0 8 2 1 0 SCN1A constrhet 1878 K E 1 SCN1A:1878:E:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848153 rs148703212 C G gnomAD Exomes PASS NA p.Glu1878Gln p.Glu1878Gln c.5632G>C missense_variant segdup 4 1.9226886878611e-05 0 0 0 0 0 4 0 0 SCN1A constrhet 1878 Q E 1 SCN1A:1878:E:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848217 rs144691638 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1856Ile p.Met1856Ile c.5568G>A missense_variant segdup 31 0.000135192889726213 26 4 0 0 0 0 1 0 SCN1A constrhet 1856 I M 1 SCN1A:1856:M:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848275 rs149225252 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1837Leu p.Pro1837Leu c.5510C>T missense_variant segdup 7 3.05869192854896e-05 3 1 0 1 0 2 0 0 SCN1A constrhet 1837 L P 1 SCN1A:1837:P:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848284 rs780809852 G A gnomAD Exomes PASS NA p.Ala1834Val p.Ala1834Val c.5501C>T missense_variant segdup 2 9.61214975729322e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 1834 V A 1 SCN1A:1834:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848296 rs566595038 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1830Pro p.Gln1830Pro c.5489A>C missense_variant segdup 4 1.74428745857317e-05 1 0 0 0 0 2 1 0 SCN1A constrhet 1830 P Q 1 SCN1A:1830:Q:P ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848316 rs772071117 C A gnomAD Exomes PASS NA p.Met1823Ile p.Met1823Ile c.5469G>T missense_variant segdup 2 9.61150304684647e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 1823 I M 1 SCN1A:1823:M:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848331 rs991588313 A C gnomAD Exomes PASS NA p.Asp1818Glu p.Asp1818Glu c.5454T>G missense_variant segdup 2 9.61104116408931e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 1818 E D 1 SCN1A:1818:D:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848333 rs747251662 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1818Asn p.Asp1818Asn c.5452G>A missense_variant segdup 2 8.72105699210744e-06 0 1 0 0 0 0 1 0 SCN1A constrhet 1818 N D 1 SCN1A:1818:D:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848561 rs528239871 C T gnomAD Exomes PASS NA p.Asp1742Asn p.Asp1742Asn c.5224G>A missense_variant segdup 3 1.44160075347666e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 1742 N D 1 SCN1A:1742:D:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848689 rs773560347 A G gnomAD Exomes PASS NA p.Val1699Ala p.Val1699Ala c.5096T>C missense_variant segdup 2 9.61094879286483e-06 0 1 0 0 0 1 0 0 SCN1A constrhet 1699 A V 1 SCN1A:1699:V:A ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166848930 rs373967247 T C gnomAD Exomes PASS NA p.Met1619Val p.Met1619Val c.4855A>G missense_variant segdup 129 0.000620532407184707 1 0 0 0 0 0 2 126 SCN1A constrhet 1619 V M 1 SCN1A:1619:M:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850674 rs121918808 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1612Ile p.Val1612Ile c.4834G>A missense_variant segdup 34 0.000150026916593859 2 0 0 32 0 0 0 0 SCN1A constrhet 1612 I V 1 SCN1A:1612:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850701 rs761333438 C T gnomAD Exomes PASS NA p.Gly1603Arg p.Gly1603Arg c.4807G>A missense_variant segdup 2 9.66846822457918e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1603 R G 1 SCN1A:1603:G:R ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850725 rs756238700 G T gnomAD Exomes PASS NA p.Leu1595Ile p.Leu1595Ile c.4783C>A missense_variant segdup 2 9.64171391106483e-06 0 0 0 0 0 1 1 0 SCN1A constrhet 1595 I L 1 SCN1A:1595:L:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850764 rs779090130 C T gnomAD Exomes PASS NA p.Val1582Met p.Val1582Met c.4744G>A missense_variant segdup 13 6.25926853224968e-05 0 0 0 0 6 5 2 0 SCN1A constrhet 1582 M V 1 SCN1A:1582:V:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850784 rs368834365 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1575His p.Arg1575His c.4724G>A missense_variant segdup 58 0.000253345913268337 0 49 0 0 8 1 0 0 SCN1A constrhet 1575 H R 1 SCN1A:1575:R:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850785 rs121918807 G A gnomAD Exomes PASS NA p.Arg1575Cys p.Arg1575Cys c.4723C>T missense_variant segdup 18 8.66559470050742e-05 0 1 0 12 2 3 0 0 SCN1A constrhet 1575 C R 1 SCN1A:1575:R:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850796 rs112547129 G A gnomAD Exomes PASS NA p.Thr1571Ile p.Thr1571Ile c.4712C>T missense_variant segdup 3 1.44437704018257e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 1571 I T 1 SCN1A:1571:T:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850810 rs772966388 A C gnomAD Exomes PASS NA p.Ser1566Arg p.Ser1566Arg c.4698T>G missense_variant segdup 2 9.63010756830154e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1566 R S 1 SCN1A:1566:S:R ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850811 rs200263247 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1566Asn p.Ser1566Asn c.4697G>A missense_variant segdup 4 1.74756433221198e-05 0 4 0 0 0 0 0 0 SCN1A constrhet 1566 N S 1 SCN1A:1566:S:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850818 rs766227610 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1564Asn p.Asp1564Asn c.4690G>A missense_variant segdup 5 2.18437906840601e-05 0 0 0 5 0 0 0 0 SCN1A constrhet 1564 N D 1 SCN1A:1564:D:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850880 rs121917992 A G gnomAD Exomes PASS NA p.Phe1543Ser p.Phe1543Ser c.4628T>C missense_variant segdup 3 1.44472482807775e-05 0 0 0 0 0 2 1 0 SCN1A constrhet 1543 S F 1 SCN1A:1543:F:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850888 rs750623506 T A gnomAD Exomes PASS NA p.Arg1540Ser p.Arg1540Ser c.4620A>T missense_variant segdup 2 9.63122056458215e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 1540 S R 1 SCN1A:1540:R:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166850896 rs780360360 C T gnomAD Exomes PASS NA p.Val1538Ile p.Val1538Ile c.4612G>A missense_variant segdup 5 2.40794428980091e-05 0 2 0 0 0 3 0 0 SCN1A constrhet 1538 I V 1 SCN1A:1538:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166852534 rs143088184 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1524Thr p.Pro1524Thr c.4570C>A missense_variant segdup 6 2.62217133267488e-05 5 0 0 0 0 1 0 0 SCN1A constrhet 1524 T P 1 SCN1A:1524:P:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166852537 rs1474960995 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1523Val p.Ile1523Val c.4567A>G missense_variant segdup 2 8.73934891850557e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 1523 V I 1 SCN1A:1523:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166852548 rs372425457 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1519Leu p.Pro1519Leu c.4556C>T missense_variant segdup 36 0.000157456896174672 0 35 0 0 0 0 0 1 SCN1A constrhet 1519 L P 1 SCN1A:1519:P:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166852557 rs139300715 G A gnomAD Exomes PASS NA p.Ser1516Leu p.Ser1516Leu c.4547C>T missense_variant segdup 4 1.92657810829296e-05 0 0 0 0 0 0 0 4 SCN1A constrhet 1516 L S 1 SCN1A:1516:S:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166854631 rs138231868 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1465Val p.Ile1465Val c.4393A>G missense_variant segdup 78 0.0003425168843259 73 5 0 0 0 0 0 0 SCN1A constrhet 1465 V I 1 SCN1A:1465:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166854659 rs746963769 T G gnomAD Exomes PASS NA p.Glu1455Asp p.Glu1455Asp c.4365A>C missense_variant segdup 2 9.69274013763691e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1455 D E 1 SCN1A:1455:E:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166854679 rs768638174 G A gnomAD Exomes PASS NA p.Leu1449Phe p.Leu1449Phe c.4345C>T missense_variant 2 9.70920918491189e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1449 F L 1 SCN1A:1449:L:F ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166859104 rs775820803 C T gnomAD Exomes PASS NA p.Glu1388Lys p.Glu1388Lys c.4162G>A missense_variant 2 9.63084953723768e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1388 K E 1 SCN1A:1388:E:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166859137 rs762317674 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1377Val p.Ile1377Val c.4129A>G missense_variant 5 2.18456994556052e-05 5 0 0 0 0 0 0 0 SCN1A constrhet 1377 V I 1 SCN1A:1377:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166859170 rs121918805 C T gnomAD Exomes PASS NA p.Val1366Ile p.Val1366Ile c.4096G>A missense_variant 5 2.40908127276582e-05 1 1 1 0 0 1 0 1 SCN1A constrhet 1366 I V 1 SCN1A:1366:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166866300 rs549152510 C T gnomAD Exomes PASS NA p.Ala1311Thr p.Ala1311Thr c.3931G>A missense_variant 22 0.000106004683479652 2 0 0 0 0 0 0 20 SCN1A constrhet 1311 T A 1 SCN1A:1311:A:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166866307 rs121917910 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1308Asp p.Glu1308Asp c.3924A>T missense_variant 134 0.000585940916166722 6 2 1 0 9 114 2 0 SCN1A constrhet 1308 D E 1 SCN1A:1308:E:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166866332 rs146878122 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1300Ile p.Thr1300Ile c.3899C>T missense_variant 35 0.000153099164515988 4 14 0 0 0 12 1 4 SCN1A constrhet 1300 I T 1 SCN1A:1300:T:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166866335 rs769062565 A G gnomAD Exomes PASS NA p.Leu1299Ser p.Leu1299Ser c.3896T>C missense_variant 3 1.44575526254916e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 1299 S L 1 SCN1A:1299:L:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166868734 rs756535007 G A gnomAD Exomes PASS NA p.Ala1255Val p.Ala1255Val c.3764C>T missense_variant 2 9.65195065922823e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 1255 V A 1 SCN1A:1255:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166868749 rs140731963 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1250Met p.Thr1250Met c.3749C>T missense_variant 94 0.000412248155847345 2 6 0 0 57 21 1 7 SCN1A constrhet 1250 M T 1 SCN1A:1250:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166868758 rs765403943 G A gnomAD Exomes PASS NA p.Thr1247Met p.Thr1247Met c.3740C>T missense_variant 3 1.45149116525711e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 1247 M T 1 SCN1A:1247:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166868779 rs776629634 A G gnomAD Exomes PASS NA p.Ile1240Thr p.Ile1240Thr c.3719T>C missense_variant 4 1.94764724213151e-05 0 1 0 0 0 3 0 0 SCN1A constrhet 1240 T I 1 SCN1A:1240:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166868784 rs121917973 T G gnomAD Exomes PASS NA p.Glu1238Asp p.Glu1238Asp c.3714A>C missense_variant 11 5.36973034190538e-05 0 3 1 0 0 4 3 0 SCN1A constrhet 1238 D E 1 SCN1A:1238:E:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166870321 rs566081370 C T gnomAD Exomes PASS NA p.Arg1213Gln p.Arg1213Gln c.3638G>A missense_variant 4 1.9248351859872e-05 0 0 0 0 0 0 0 4 SCN1A constrhet 1213 Q R 1 SCN1A:1213:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166870330 rs121918738 G A gnomAD Exomes PASS NA p.Thr1210Met p.Thr1210Met c.3629C>T missense_variant 4 1.92411298391442e-05 2 0 0 1 0 0 0 1 SCN1A constrhet 1210 M T 1 SCN1A:1210:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166870372 rs760776044 A G gnomAD Exomes PASS NA p.Val1196Ala p.Val1196Ala c.3587T>C missense_variant 4 1.92370582690495e-05 0 0 0 0 0 1 0 3 SCN1A constrhet 1196 A V 1 SCN1A:1196:V:A ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166870375 rs754010186 T C gnomAD Exomes PASS NA p.Asn1195Ser p.Asn1195Ser c.3584A>G missense_variant 5 2.40474793432152e-05 0 0 0 0 0 5 0 0 SCN1A constrhet 1195 S N 1 SCN1A:1195:N:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166870403 rs780607306 C A gnomAD Exomes PASS NA p.Val1186Leu p.Val1186Leu c.3556G>T missense_variant 7 3.37336391849953e-05 0 6 0 0 0 0 1 0 SCN1A constrhet 1186 L V 1 SCN1A:1186:V:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872131 rs780475706 G A gnomAD Exomes PASS NA p.Ala1179Val p.Ala1179Val c.3536C>T missense_variant 2 9.61104116408931e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1179 V A 1 SCN1A:1179:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872146 rs121918799 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1174Ser p.Thr1174Ser c.3521C>G missense_variant 378 0.00164832289686208 7 4 7 0 58 290 5 7 SCN1A constrhet 1174 S T 1 SCN1A:1174:T:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872165 rs146374754 C T gnomAD Exomes PASS NA p.Val1168Ile p.Val1168Ile c.3502G>A missense_variant 3 1.44169774326247e-05 0 0 0 0 0 2 1 0 SCN1A constrhet 1168 I V 1 SCN1A:1168:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872171 rs368609628 G T gnomAD Exomes PASS NA p.Gln1166Lys p.Gln1166Lys c.3496C>A missense_variant 3 1.4416700305634e-05 0 2 0 0 0 1 0 0 SCN1A constrhet 1166 K Q 1 SCN1A:1166:Q:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872180 rs770706176 C G gnomAD Exomes PASS NA p.Val1163Leu p.Val1163Leu c.3487G>C missense_variant 6 2.88334006112681e-05 0 0 0 0 0 0 0 6 SCN1A constrhet 1163 L V 1 SCN1A:1163:V:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872186 rs201079458 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1161Thr p.Ala1161Thr c.3481G>A missense_variant 95 0.000414322473723233 1 0 0 0 0 27 2 65 SCN1A constrhet 1161 T A 1 SCN1A:1161:A:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872189 rs776752552 C T gnomAD Exomes PASS NA p.Gly1160Ser p.Gly1160Ser c.3478G>A missense_variant 8 3.84493381907664e-05 0 8 0 0 0 0 0 0 SCN1A constrhet 1160 S G 1 SCN1A:1160:G:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872189 rs776752552 C A gnomAD Exomes PASS NA p.Gly1160Cys p.Gly1160Cys c.3478G>T missense_variant 2 9.6123345476916e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 1160 C G 1 SCN1A:1160:G:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872192 rs765483880 T C gnomAD Exomes PASS NA p.Ile1159Val p.Ile1159Val c.3475A>G missense_variant 2 9.61214975729322e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1159 V I 1 SCN1A:1159:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872194 rs773462315 T C gnomAD Exomes PASS NA p.Asp1158Gly p.Asp1158Gly c.3473A>G missense_variant 2 9.61214975729322e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 1158 G D 1 SCN1A:1158:D:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166872213 rs763254451 A T gnomAD Exomes PASS NA p.Ser1152Thr p.Ser1152Thr c.3454T>A missense_variant 2 9.61316619241713e-06 0 2 0 0 0 0 0 0 SCN1A constrhet 1152 T S 1 SCN1A:1152:S:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892580 rs746718015 G A gnomAD Exomes PASS NA p.Ser1136Leu p.Ser1136Leu c.3407C>T missense_variant segdup 2 9.61473746959339e-06 0 0 0 0 0 1 0 1 SCN1A constrhet 1136 L S 1 SCN1A:1136:S:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892595 rs1252603738 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1131Gly p.Asp1131Gly c.3392A>G missense_variant segdup 2 8.72242623008016e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1131 G D 1 SCN1A:1131:D:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892596 rs372555722 C T gnomAD Exomes PASS NA p.Asp1131Asn p.Asp1131Asn c.3391G>A missense_variant segdup 3 1.44203037877331e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 1131 N D 1 SCN1A:1131:D:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892601 rs779989776 G A gnomAD Exomes PASS NA p.Thr1129Met p.Thr1129Met c.3386C>T missense_variant segdup 10 4.80662930313488e-05 0 0 0 0 0 10 0 0 SCN1A constrhet 1129 M T 1 SCN1A:1129:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892632 rs774410570 C T gnomAD Exomes PASS NA p.Val1119Ile p.Val1119Ile c.3355G>A missense_variant segdup 2 9.61214975729322e-06 1 0 0 0 0 0 0 1 SCN1A constrhet 1119 I V 1 SCN1A:1119:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892658 rs528170959 C G gnomAD Exomes PASS NA p.Ser1110Thr p.Ser1110Thr c.3329G>C missense_variant segdup 6 2.88339548652493e-05 0 0 0 0 0 1 0 5 SCN1A constrhet 1110 T S 1 SCN1A:1110:S:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892662 rs753452775 G T gnomAD Exomes PASS NA p.Pro1109Thr p.Pro1109Thr c.3325C>A missense_variant segdup 4 1.92228213334871e-05 0 0 0 0 0 4 0 0 SCN1A constrhet 1109 T P 1 SCN1A:1109:P:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892709 rs1164730356 T C gnomAD Exomes PASS NA p.Glu1093Gly p.Glu1093Gly c.3278A>G missense_variant segdup 3 1.44172545702697e-05 0 3 0 0 0 0 0 0 SCN1A constrhet 1093 G E 1 SCN1A:1093:E:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892713 rs761200288 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1092Ile p.Val1092Ile c.3274G>A missense_variant segdup 3 1.30815854881612e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 1092 I V 1 SCN1A:1092:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892754 rs758221668 T A gnomAD Exomes PASS NA p.Asp1078Val p.Asp1078Val c.3233A>T missense_variant segdup 3 1.44201651589583e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 1078 V D 1 SCN1A:1078:D:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892788 rs2298771 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1067Thr p.Ala1067Thr c.3199G>A missense_variant segdup 166524 0.727706547104014 16226 25238 3903 13409 13355 69580 3819 20994 SCN1A constrhet 1067 T A 1 SCN1A:1067:A:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892796 rs749432535 T C gnomAD Exomes PASS NA p.Asn1064Ser p.Asn1064Ser c.3191A>G missense_variant segdup 2 9.62510226671158e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1064 S N 1 SCN1A:1064:N:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892811 rs779306054 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1059Val p.Asp1059Val c.3176A>T missense_variant segdup 11 4.80701999720319e-05 0 1 0 10 0 0 0 0 SCN1A constrhet 1059 V D 1 SCN1A:1059:D:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892821 rs746016312 T C gnomAD Exomes PASS NA p.Asn1056Asp p.Asn1056Asp c.3166A>G missense_variant segdup 8 3.85839683611459e-05 0 5 0 0 0 3 0 0 SCN1A constrhet 1056 D N 1 SCN1A:1056:N:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892835 rs776055539 A G gnomAD Exomes PASS NA p.Leu1051Pro p.Leu1051Pro c.3152T>C missense_variant segdup 10 4.83858481071456e-05 0 0 0 0 0 0 0 10 SCN1A constrhet 1051 P L 1 SCN1A:1051:L:P ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892836 rs1157460857 G A gnomAD Exomes PASS NA p.Leu1051Phe p.Leu1051Phe c.3151C>T missense_variant segdup 2 9.68110442039228e-06 1 0 0 0 0 1 0 0 SCN1A constrhet 1051 F L 1 SCN1A:1051:L:F ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892858 rs761408574 C A gnomAD Exomes PASS NA p.Lys1043Asn p.Lys1043Asn c.3129G>T missense_variant segdup 2 9.83110167325351e-06 0 1 0 0 0 0 1 0 SCN1A constrhet 1043 N K 1 SCN1A:1043:K:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892866 rs376649518 T C gnomAD Exomes PASS NA p.Lys1041Glu p.Lys1041Glu c.3121A>G missense_variant segdup 2 9.80738299792083e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1041 E K 1 SCN1A:1041:K:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892867 rs1373733895 C A gnomAD Exomes PASS NA p.Arg1040Ser p.Arg1040Ser c.3120G>T missense_variant segdup 7 3.43484106499701e-05 0 1 0 0 0 6 0 0 SCN1A constrhet 1040 S R 1 SCN1A:1040:R:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892886 rs121918818 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1034Thr p.Ile1034Thr c.3101T>C missense_variant segdup 60 0.000274285714285714 58 2 0 0 0 0 0 0 SCN1A constrhet 1034 T I 1 SCN1A:1034:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892889 rs796052992 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1033Ser p.Phe1033Ser c.3098T>C missense_variant segdup 2 9.1436931376583e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1033 S F 1 SCN1A:1033:F:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892913 rs752532497 T A gnomAD Exomes PASS NA p.Tyr1025Phe p.Tyr1025Phe c.3074A>T missense_variant segdup 9 4.57740389994812e-05 0 0 0 0 1 7 1 0 SCN1A constrhet 1025 F Y 1 SCN1A:1025:Y:F ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892927 rs150154265 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.His1020Gln p.His1020Gln c.3060C>A missense_variant segdup 4 1.8115777936794e-05 1 0 0 0 0 3 0 0 SCN1A constrhet 1020 Q H 1 SCN1A:1020:H:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892928 rs576306073 T C gnomAD Exomes PASS NA p.His1020Arg p.His1020Arg c.3059A>G missense_variant segdup 2 1.00195380992936e-05 0 0 0 0 0 0 0 2 SCN1A constrhet 1020 R H 1 SCN1A:1020:H:R ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892934 rs745930061 C T gnomAD Exomes PASS NA p.Arg1018Lys p.Arg1018Lys c.3053G>A missense_variant segdup 6 2.98376830044558e-05 0 0 0 6 0 0 0 0 SCN1A constrhet 1018 K R 1 SCN1A:1018:R:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892943 rs772487501 G A gnomAD Exomes PASS NA p.Ala1015Val p.Ala1015Val c.3044C>T missense_variant segdup 13 6.45455989831586e-05 0 0 0 0 11 2 0 0 SCN1A constrhet 1015 V A 1 SCN1A:1015:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892960 rs768855772 C G gnomAD Exomes PASS NA p.Met1009Ile p.Met1009Ile c.3027G>C missense_variant segdup 2 9.89628691315019e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 1009 I M 1 SCN1A:1009:M:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166892969 rs375909896 A C gnomAD Exomes PASS NA p.Asp1006Glu p.Asp1006Glu c.3018T>G missense_variant segdup 2 9.78425713027738e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 1006 E D 1 SCN1A:1006:D:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894306 rs773681556 T G gnomAD Exomes PASS NA p.Met976Leu p.Met976Leu c.2926A>C missense_variant segdup 7 3.36334720313656e-05 0 0 0 0 0 7 0 0 SCN1A constrhet 976 L M 1 SCN1A:976:M:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894321 rs748816300 C T gnomAD Exomes PASS NA p.Val971Ile p.Val971Ile c.2911G>A missense_variant segdup 2 9.60937875366358e-06 0 0 0 2 0 0 0 0 SCN1A constrhet 971 I V 1 SCN1A:971:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894342 rs1319249836 C T gnomAD Exomes PASS NA p.Gly964Ser p.Gly964Ser c.2890G>A missense_variant segdup 2 9.60910174116923e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 964 S G 1 SCN1A:964:G:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894448 rs138376436 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln928His p.Gln928His c.2784A>C missense_variant segdup 4 1.74390722413568e-05 4 0 0 0 0 0 0 0 SCN1A constrhet 928 H Q 1 SCN1A:928:Q:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894462 rs141950573 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala924Thr p.Ala924Thr c.2770G>A missense_variant segdup 22 9.59107158427064e-05 1 2 0 1 0 18 0 0 SCN1A constrhet 924 T A 1 SCN1A:924:A:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894516 rs185760342 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val906Met p.Val906Met c.2716G>A missense_variant segdup 7 3.05173120351559e-05 1 4 0 1 0 0 0 1 SCN1A constrhet 906 M V 1 SCN1A:906:V:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894531 rs12617205 C T gnomAD Exomes PASS NA p.Val901Ile p.Val901Ile c.2701G>A missense_variant segdup 3 1.44142066420664e-05 0 0 0 0 0 1 0 2 SCN1A constrhet 901 I V 1 SCN1A:901:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894573 rs368663649 C T gnomAD Exomes PASS NA p.Val887Met p.Val887Met c.2659G>A missense_variant segdup 5 2.4030374393233e-05 0 1 0 0 0 3 0 1 SCN1A constrhet 887 M V 1 SCN1A:887:V:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166894582 rs1253956567 C T gnomAD Exomes PASS NA p.Gly884Ser p.Gly884Ser c.2650G>A missense_variant segdup 2 9.61482991365883e-06 0 1 0 0 0 0 0 1 SCN1A constrhet 884 S G 1 SCN1A:884:G:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166895963 rs764292628 T G gnomAD Exomes PASS NA p.Glu853Asp p.Glu853Asp c.2559A>C missense_variant segdup 2 9.61640173479887e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 853 D E 1 SCN1A:853:E:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166895970 rs561912072 T C gnomAD Exomes PASS NA p.Asn851Ser p.Asn851Ser c.2552A>G missense_variant segdup 4 1.9228735422215e-05 0 0 0 0 0 3 0 1 SCN1A constrhet 851 S N 1 SCN1A:851:N:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166895971 rs1450206187 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn851Asp p.Asn851Asp c.2551A>G missense_variant segdup 3 1.30934611255139e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 851 D N 1 SCN1A:851:N:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166895979 rs1429732670 C A gnomAD Exomes PASS NA p.Gly848Val p.Gly848Val c.2543G>T missense_variant segdup 2 9.6141828425293e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 848 V G 1 SCN1A:848:G:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166896000 rs750901301 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr841Met p.Thr841Met c.2522C>T missense_variant segdup 9 3.92882711414552e-05 1 4 0 0 0 3 1 0 SCN1A constrhet 841 M T 1 SCN1A:841:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166896013 rs779561135 C T gnomAD Exomes PASS NA p.Gly837Ser p.Gly837Ser c.2509G>A missense_variant segdup 5 2.40336085982638e-05 0 0 0 0 0 1 0 4 SCN1A constrhet 837 S G 1 SCN1A:837:G:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897778 rs762038032 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr793Met p.Thr793Met c.2378C>T missense_variant segdup 12 5.23436886597399e-05 0 1 0 4 0 6 0 1 SCN1A constrhet 793 M T 1 SCN1A:793:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897787 rs121918782 T A gnomAD Exomes PASS NA p.Tyr790Phe p.Tyr790Phe c.2369A>T missense_variant segdup 3 1.44208583294878e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 790 F Y 1 SCN1A:790:Y:F ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897803 rs767045134 T A gnomAD Exomes PASS NA p.Met785Leu p.Met785Leu c.2353A>T missense_variant segdup 2 9.61316619241713e-06 0 1 0 0 0 1 0 0 SCN1A constrhet 785 L M 1 SCN1A:785:M:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897863 rs767074099 C T gnomAD Exomes PASS NA p.Val765Met p.Val765Met c.2293G>A missense_variant segdup 2 9.61131828841644e-06 1 0 0 1 0 0 0 0 SCN1A constrhet 765 M V 1 SCN1A:765:V:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897916 rs980156920 A G gnomAD Exomes PASS NA p.Ile747Thr p.Ile747Thr c.2240T>C missense_variant segdup 2 9.61307378034126e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 747 T I 1 SCN1A:747:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897922 rs778852888 A C gnomAD Exomes PASS NA p.Phe745Cys p.Phe745Cys c.2234T>G missense_variant segdup 3 1.4421690222094e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 745 C F 1 SCN1A:745:F:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897927 rs745738437 G C gnomAD Exomes PASS NA p.Asn743Lys p.Asn743Lys c.2229C>G missense_variant segdup 2 9.6182515942252e-06 0 1 0 0 0 0 1 0 SCN1A constrhet 743 K N 1 SCN1A:743:N:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166897941 rs768736409 A G gnomAD Exomes PASS NA p.Tyr739His p.Tyr739His c.2215T>C missense_variant segdup 5 2.40523378872426e-05 0 0 0 0 0 4 0 1 SCN1A constrhet 739 H Y 1 SCN1A:739:Y:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166898808 rs771260698 C G gnomAD Exomes PASS NA p.Val724Leu p.Val724Leu c.2170G>C missense_variant 4 1.92366882117575e-05 0 0 0 0 0 0 0 4 SCN1A constrhet 724 L V 1 SCN1A:724:V:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166898843 rs138799232 C T gnomAD Exomes PASS NA p.Arg712Gln p.Arg712Gln c.2135G>A missense_variant 8 3.84493381907664e-05 0 0 0 0 0 3 0 5 SCN1A constrhet 712 Q R 1 SCN1A:712:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166898893 rs764865083 A C gnomAD Exomes PASS NA p.Ser695Arg p.Ser695Arg c.2085T>G missense_variant 4 1.9226886878611e-05 0 0 0 0 0 4 0 0 SCN1A constrhet 695 R S 1 SCN1A:695:S:R ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166898900 rs750260160 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg693Met p.Arg693Met c.2078G>T missense_variant 5 2.18062557786578e-05 0 0 0 0 0 5 0 0 SCN1A constrhet 693 M R 1 SCN1A:693:R:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166898921 rs374767754 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu686Ala p.Glu686Ala c.2057A>C missense_variant 5 2.18100605447281e-05 0 0 0 0 0 5 0 0 SCN1A constrhet 686 A E 1 SCN1A:686:E:A ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900192 rs754017746 G A gnomAD Exomes PASS NA p.Ala677Val p.Ala677Val c.2030C>T missense_variant segdup 2 9.61982453440049e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 677 V A 1 SCN1A:677:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900216 rs570326929 G A gnomAD Exomes PASS NA p.Pro669Leu p.Pro669Leu c.2006C>T missense_variant segdup 3 1.44194720550632e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 669 L P 1 SCN1A:669:P:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900234 rs370481828 G A gnomAD Exomes PASS NA p.Pro663Leu p.Pro663Leu c.1988C>T missense_variant 2 9.61122591186506e-06 1 0 0 0 0 1 0 0 SCN1A constrhet 663 L P 1 SCN1A:663:P:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900237 rs1434950269 G A gnomAD Exomes PASS NA p.Ser662Leu p.Ser662Leu c.1985C>T missense_variant 3 1.44168388677976e-05 0 1 0 0 0 1 0 1 SCN1A constrhet 662 L S 1 SCN1A:662:S:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900240 rs780340848 G A gnomAD Exomes PASS NA p.Thr661Ile p.Thr661Ile c.1982C>T missense_variant 2 9.61094879286483e-06 0 1 0 0 0 0 0 1 SCN1A constrhet 661 I T 1 SCN1A:661:T:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900253 rs747395931 G T gnomAD Exomes PASS NA p.Pro657Thr p.Pro657Thr c.1969C>A missense_variant 2 9.61057932572175e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 657 T P 1 SCN1A:657:P:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900277 rs777102638 C T gnomAD Exomes PASS NA p.Gly649Ser p.Gly649Ser c.1945G>A missense_variant 5 2.40248320664239e-05 0 0 0 0 0 5 0 0 SCN1A constrhet 649 S G 1 SCN1A:649:G:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900294 rs369178649 C T gnomAD Exomes PASS NA p.Ser643Asn p.Ser643Asn c.1928G>A missense_variant 4 1.92200503565319e-05 2 0 0 0 0 2 0 0 SCN1A constrhet 643 N S 1 SCN1A:643:S:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900327 rs201987598 A T gnomAD Exomes PASS NA p.Leu632Gln p.Leu632Gln c.1895T>A missense_variant 5 2.4026679224611e-05 0 5 0 0 0 0 0 0 SCN1A constrhet 632 Q L 1 SCN1A:632:L:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900333 rs145670933 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg630Gln p.Arg630Gln c.1889G>A missense_variant 11 4.79599577952371e-05 0 0 0 0 0 11 0 0 SCN1A constrhet 630 Q R 1 SCN1A:630:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900334 rs565855062 G A gnomAD Exomes PASS NA p.Arg630Trp p.Arg630Trp c.1888C>T missense_variant 5 2.40280647796626e-05 0 0 0 5 0 0 0 0 SCN1A constrhet 630 W R 1 SCN1A:630:R:W ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900340 rs752639991 A T gnomAD Exomes PASS NA p.Ser628Thr p.Ser628Thr c.1882T>A missense_variant 3 1.44162846351238e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 628 T S 1 SCN1A:628:S:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900387 rs1060502184 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg612Gln p.Arg612Gln c.1835G>A missense_variant 3 1.3080102548004e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 612 Q R 1 SCN1A:612:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900408 rs374501252 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg605Thr p.Arg605Thr c.1814G>C missense_variant segdup 10 4.35995814440181e-05 6 2 0 0 0 0 2 0 SCN1A constrhet 605 T R 1 SCN1A:605:R:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900411 rs121918769 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg604His p.Arg604His c.1811G>A missense_variant segdup 334 0.00145622602023021 2 18 8 0 8 123 12 163 SCN1A constrhet 604 H R 1 SCN1A:604:R:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900412 rs148371904 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg604Cys p.Arg604Cys c.1810C>T missense_variant segdup 8 3.48787527358022e-05 6 1 0 0 0 0 0 1 SCN1A constrhet 604 C R 1 SCN1A:604:R:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900432 rs149715258 G T gnomAD Exomes PASS NA p.Thr597Asn p.Thr597Asn c.1790C>A missense_variant segdup 7 3.36344416682683e-05 6 0 0 0 0 0 0 1 SCN1A constrhet 597 N T 1 SCN1A:597:T:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900483 rs544692790 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg580Gln p.Arg580Gln c.1739G>A missense_variant segdup 26 0.000113353969568819 0 15 0 0 0 10 1 0 SCN1A constrhet 580 Q R 1 SCN1A:580:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900516 rs796052978 T C gnomAD Exomes PASS NA p.Asn569Ser p.Asn569Ser c.1706A>G missense_variant segdup 2 9.61094879286483e-06 0 0 0 1 0 1 0 0 SCN1A constrhet 569 S N 1 SCN1A:569:N:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900519 rs794727025 C T gnomAD Exomes PASS NA p.Arg568Gln p.Arg568Gln c.1703G>A missense_variant segdup 2 9.61159542872521e-06 0 1 0 0 1 0 0 0 SCN1A constrhet 568 Q R 1 SCN1A:568:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900526 rs886044645 G A gnomAD Exomes PASS NA p.Pro566Ser p.Pro566Ser c.1696C>T missense_variant segdup 2 9.61251934519518e-06 0 2 0 0 0 0 0 0 SCN1A constrhet 566 S P 1 SCN1A:566:P:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900541 rs771836709 C T gnomAD Exomes PASS NA p.Gly561Ser p.Gly561Ser c.1681G>A missense_variant segdup 2 9.61945438454731e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 561 S G 1 SCN1A:561:G:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900543 rs746769373 C T gnomAD Exomes PASS NA p.Arg560His p.Arg560His c.1679G>A missense_variant segdup 2 9.620102165485e-06 0 1 0 0 0 1 0 0 SCN1A constrhet 560 H R 1 SCN1A:560:R:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900544 rs768764142 G A gnomAD Exomes PASS NA p.Arg560Cys p.Arg560Cys c.1678C>T missense_variant segdup 2 9.62121285009188e-06 0 0 0 0 1 0 0 1 SCN1A constrhet 560 C R 1 SCN1A:560:R:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166900544 rs768764142 G C gnomAD Exomes PASS NA p.Arg560Gly p.Arg560Gly c.1678C>G missense_variant segdup 2 9.62121285009188e-06 0 0 0 0 0 1 1 0 SCN1A constrhet 560 G R 1 SCN1A:560:R:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901563 rs1396476288 G A gnomAD Genomes NA PASS p.Ser551Phe p.Ser551Phe c.1652C>T missense_variant 3 0.000141110065851364 3 0 0 0 0 0 0 0 SCN1A constrhet 551 F S 1 SCN1A:551:S:F ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901574 rs550770894 C A gnomAD Exomes PASS NA p.Lys547Asn p.Lys547Asn c.1641G>T missense_variant 2 9.61852913452475e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 547 N K 1 SCN1A:547:K:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901590 rs121918817 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg542Gln p.Arg542Gln c.1625G>A missense_variant 358 0.00156142325037727 5 14 144 1 5 162 16 11 SCN1A constrhet 542 Q R 1 SCN1A:542:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901611 rs184524479 C T gnomAD Exomes PASS NA p.Arg535His p.Arg535His c.1604G>A missense_variant 2 9.61187258501701e-06 0 1 0 0 0 1 0 0 SCN1A constrhet 535 H R 1 SCN1A:535:R:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901612 rs761062389 G A gnomAD Exomes PASS NA p.Arg535Cys p.Arg535Cys c.1603C>T missense_variant 4 1.92224518237301e-05 0 0 0 0 0 1 1 2 SCN1A constrhet 535 C R 1 SCN1A:535:R:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901626 rs149404623 C A gnomAD Exomes PASS NA p.Arg530Met p.Arg530Met c.1589G>T missense_variant 2 9.61048696337443e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 530 M R 1 SCN1A:530:R:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901633 rs372372558 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser528Cys p.Ser528Cys c.1582A>T missense_variant 9 3.9235175642803e-05 8 0 0 0 0 1 0 0 SCN1A constrhet 528 C S 1 SCN1A:528:S:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901661 rs138587241 A C gnomAD Exomes PASS NA p.Asp518Glu p.Asp518Glu c.1554T>G missense_variant 2 9.61030224400557e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 518 E D 1 SCN1A:518:D:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901669 rs757923791 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp516Asn p.Asp516Asn c.1546G>A missense_variant 3 1.3080216608387e-05 0 0 0 3 0 0 0 0 SCN1A constrhet 516 N D 1 SCN1A:516:D:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901716 rs200176684 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg500Gln p.Arg500Gln c.1499G>A missense_variant 22 9.59307902952924e-05 0 1 0 21 0 0 0 0 SCN1A constrhet 500 Q R 1 SCN1A:500:R:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901717 rs141188608 G A gnomAD Exomes PASS NA p.Arg500Trp p.Arg500Trp c.1498C>T missense_variant 2 9.61224215160428e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 500 W R 1 SCN1A:500:R:W ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901730 rs201362569 C A gnomAD Exomes PASS NA p.Lys495Asn p.Lys495Asn c.1485G>T missense_variant 14 6.72747018289108e-05 0 0 0 0 0 14 0 0 SCN1A constrhet 495 N K 1 SCN1A:495:K:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901758 rs777120925 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala486Gly p.Ala486Gly c.1457C>G missense_variant 14 6.10420754305646e-05 0 1 0 0 7 5 1 0 SCN1A constrhet 486 G A 1 SCN1A:486:A:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901764 rs762071209 G C gnomAD Exomes PASS NA p.Ser484Cys p.Ser484Cys c.1451C>G missense_variant 2 9.61113353708936e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 484 C S 1 SCN1A:484:S:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901825 rs754696891 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala464Pro p.Ala464Pro c.1390G>C missense_variant 5 2.18211018783605e-05 0 0 0 5 0 0 0 0 SCN1A constrhet 464 P A 1 SCN1A:464:A:P ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166901827 rs752591998 G A gnomAD Exomes PASS NA p.Thr463Met p.Thr463Met c.1388C>T missense_variant 8 3.84944808538076e-05 1 0 0 0 0 4 0 3 SCN1A constrhet 463 M T 1 SCN1A:463:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903291 rs1375242070 C G gnomAD Exomes PASS NA p.Glu456Gln p.Glu456Gln c.1366G>C missense_variant segdup 2 9.61723408347759e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 456 Q E 1 SCN1A:456:E:Q ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903297 rs1465196014 G T gnomAD Exomes PASS NA p.Gln454Lys p.Gln454Lys c.1360C>A missense_variant segdup 2 9.61556953018327e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 454 K Q 1 SCN1A:454:Q:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903314 rs755962326 A G gnomAD Exomes PASS NA p.Ile448Thr p.Ile448Thr c.1343T>C missense_variant segdup 12 5.76712355101021e-05 0 4 0 1 0 2 0 5 SCN1A constrhet 448 T I 1 SCN1A:448:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903318 rs777596738 T C gnomAD Exomes PASS NA p.Met447Val p.Met447Val c.1339A>G missense_variant segdup 3 1.44178088775255e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 447 V M 1 SCN1A:447:M:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903330 rs1300925640 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu443Lys p.Glu443Lys c.1327G>A missense_variant segdup 2 8.72090488109046e-06 0 0 0 0 2 0 0 0 SCN1A constrhet 443 K E 1 SCN1A:443:E:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903372 rs1455927233 G C gnomAD Exomes PASS NA p.Gln429Glu p.Gln429Glu c.1285C>G missense_variant segdup 2 9.61224215160428e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 429 E Q 1 SCN1A:429:Q:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903437 rs398123581 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile407Thr p.Ile407Thr c.1220T>C missense_variant segdup 3 1.30814714039035e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 407 T I 1 SCN1A:407:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903464 rs774937055 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr398Met p.Thr398Met c.1193C>T missense_variant segdup 5 2.18155798144803e-05 0 0 0 2 0 2 0 1 SCN1A constrhet 398 M T 1 SCN1A:398:T:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166903473 rs759121197 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala395Val p.Ala395Val c.1184C>T missense_variant segdup 4 1.7458252952627e-05 0 0 0 0 0 4 0 0 SCN1A constrhet 395 V A 1 SCN1A:395:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166904201 rs763750338 C T gnomAD Exomes PASS NA p.Ser369Asn p.Ser369Asn c.1106G>A missense_variant segdup 2 9.61399798106042e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 369 N S 1 SCN1A:369:S:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166904253 rs779188944 C T gnomAD Exomes PASS NA p.Val352Met p.Val352Met c.1054G>A missense_variant segdup 2 9.61251934519518e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 352 M V 1 SCN1A:352:V:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166905424 rs201870762 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu334Val p.Leu334Val c.1000C>G missense_variant 50 0.000218552483193314 0 10 32 1 0 6 1 0 SCN1A constrhet 334 V L 1 SCN1A:334:L:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166905441 rs375474415 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu328Val p.Glu328Val c.983A>T missense_variant 3 1.31152127724685e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 328 V E 1 SCN1A:328:E:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908274 rs1275890918 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu307Lys p.Glu307Lys c.919G>A missense_variant 4 1.7526333315807e-05 0 0 0 0 0 3 1 0 SCN1A constrhet 307 K E 1 SCN1A:307:E:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908301 rs772149865 C T gnomAD Exomes PASS NA p.Val298Met p.Val298Met c.892G>A missense_variant 2 9.64478265482287e-06 1 1 0 0 0 0 0 0 SCN1A constrhet 298 M V 1 SCN1A:298:V:M ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908303 rs121918771 G A gnomAD Exomes PASS NA p.Thr297Ile p.Thr297Ile c.890C>T missense_variant 3 1.44649418027175e-05 0 0 0 0 0 3 0 0 SCN1A constrhet 297 I T 1 SCN1A:297:T:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908307 rs373772491 T C gnomAD Exomes PASS NA p.Ile296Val p.Ile296Val c.886A>G missense_variant 2 9.64189983994446e-06 1 0 0 0 0 1 0 0 SCN1A constrhet 296 V I 1 SCN1A:296:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908318 rs766503699 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile292Thr p.Ile292Thr c.875T>C missense_variant 4 1.74809894240014e-05 4 0 0 0 0 0 0 0 SCN1A constrhet 292 T I 1 SCN1A:292:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908319 rs751977020 T C gnomAD Exomes PASS NA p.Ile292Val p.Ile292Val c.874A>G missense_variant 2 9.6345610975692e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 292 V I 1 SCN1A:292:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908334 rs138357595 A C gnomAD Exomes PASS NA p.Leu287Val p.Leu287Val c.859T>G missense_variant 2 9.62778965205168e-06 2 0 0 0 0 0 0 0 SCN1A constrhet 287 V L 1 SCN1A:287:L:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908339 rs755598644 G A gnomAD Exomes PASS NA p.Ala285Val p.Ala285Val c.854C>T missense_variant 8 3.85059684251059e-05 0 0 0 0 0 0 0 8 SCN1A constrhet 285 V A 1 SCN1A:285:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908372 rs1285055471 C T gnomAD Exomes PASS NA p.Arg274Lys p.Arg274Lys c.821G>A missense_variant segdup 3 1.44344579379896e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 274 K R 1 SCN1A:274:R:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908402 rs745664511 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile264Thr p.Ile264Thr c.791T>C missense_variant segdup 4 1.74634359310194e-05 1 0 0 0 0 0 1 2 SCN1A constrhet 264 T I 1 SCN1A:264:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908415 rs775591652 C T gnomAD Exomes PASS NA p.Val260Ile p.Val260Ile c.778G>A missense_variant segdup 5 2.40687789427067e-05 0 0 0 0 0 1 4 0 SCN1A constrhet 260 I V 1 SCN1A:260:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908429 rs1438393881 A G gnomAD Exomes PASS NA p.Val255Ala p.Val255Ala c.764T>C missense_variant segdup 2 9.62741888899586e-06 0 0 0 0 0 0 0 2 SCN1A constrhet 255 A V 1 SCN1A:255:V:A ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908447 rs762927460 T C gnomAD Exomes PASS NA p.Asp249Gly p.Asp249Gly c.746A>G missense_variant segdup 3 1.44443267499302e-05 0 0 0 0 0 0 0 3 SCN1A constrhet 249 G D 1 SCN1A:249:D:G ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908459 rs202240491 T C gnomAD Exomes PASS NA p.Lys245Arg p.Lys245Arg c.734A>G missense_variant segdup 5 2.40771238430942e-05 0 0 0 0 0 0 0 5 SCN1A constrhet 245 R K 1 SCN1A:245:K:R ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166908481 rs1237892407 C T gnomAD Exomes PASS NA p.Gly238Arg p.Gly238Arg c.712G>A missense_variant segdup 3 1.44759698899826e-05 0 0 0 0 3 0 0 0 SCN1A constrhet 238 R G 1 SCN1A:238:G:R ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166909370 rs1267133824 A G gnomAD Exomes PASS NA p.Val229Ala p.Val229Ala c.686T>C missense_variant segdup 2 9.66183574879227e-06 0 2 0 0 0 0 0 0 SCN1A constrhet 229 A V 1 SCN1A:229:V:A ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166909418 rs754661378 G A gnomAD Exomes PASS NA p.Ser213Leu p.Ser213Leu c.638C>T missense_variant segdup 6 2.89620018535681e-05 0 6 0 0 0 0 0 0 SCN1A constrhet 213 L S 1 SCN1A:213:S:L ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166909449 rs569880910 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val203Ile p.Val203Ile c.607G>A missense_variant segdup 5 2.19294398343889e-05 0 0 0 0 2 3 0 0 SCN1A constrhet 203 I V 1 SCN1A:203:V:I ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166911239 rs546641348 T C gnomAD Exomes PASS NA p.Ile171Val p.Ile171Val c.511A>G missense_variant segdup 2 9.6700576335435e-06 1 0 0 1 0 0 0 0 SCN1A constrhet 171 V I 1 SCN1A:171:I:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166915084 rs148442069 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.His127Asp p.His127Asp c.379C>G missense_variant 20 8.74003635855125e-05 1 1 0 0 0 18 0 0 SCN1A constrhet 127 D H 1 SCN1A:127:H:D ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166929875 rs1004366186 T C gnomAD Exomes PASS NA p.Asn86Ser p.Asn86Ser c.257A>G missense_variant segdup 2 9.620379812595e-06 0 0 0 0 0 1 0 1 SCN1A constrhet 86 S N 1 SCN1A:86:N:S ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166929929 rs758871507 A G gnomAD Exomes PASS NA p.Ile68Thr p.Ile68Thr c.203T>C missense_variant segdup 2 9.60984047664809e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 68 T I 1 SCN1A:68:I:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166929996 rs769582667 C T gnomAD Exomes PASS NA p.Glu46Lys p.Glu46Lys c.136G>A missense_variant segdup 7 3.36318560940923e-05 1 0 0 0 0 2 0 4 SCN1A constrhet 46 K E 1 SCN1A:46:E:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166929997 rs201985242 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp45Glu p.Asp45Glu c.135C>G missense_variant segdup 9 3.92344914773966e-05 0 0 0 9 0 0 0 0 SCN1A constrhet 45 E D 1 SCN1A:45:D:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166929999 rs531894715 C T gnomAD Exomes PASS NA p.Asp45Asn p.Asp45Asn c.133G>A missense_variant segdup 2 9.60910174116923e-06 0 0 1 0 0 1 0 0 SCN1A constrhet 45 N D 1 SCN1A:45:D:N ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930017 rs968754992 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro39Thr p.Pro39Thr c.115C>A missense_variant segdup 2 8.71907996268234e-06 1 1 0 0 0 0 0 0 SCN1A constrhet 39 T P 1 SCN1A:39:P:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930035 rs375913842 T C gnomAD Exomes PASS NA p.Lys33Glu p.Lys33Glu c.97A>G missense_variant segdup 2 9.60910174116923e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 33 E K 1 SCN1A:33:K:E ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930041 rs1368004941 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu31Lys p.Glu31Lys c.91G>A missense_variant segdup 2 8.71930803571429e-06 0 1 0 0 0 1 0 0 SCN1A constrhet 31 K E 1 SCN1A:31:E:K ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930049 rs398123601 C T gnomAD Exomes PASS NA p.Arg28His p.Arg28His c.83G>A missense_variant segdup 2 9.60956343753303e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 28 H R 1 SCN1A:28:R:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930050 rs754032480 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg28Cys p.Arg28Cys c.82C>T missense_variant segdup 10 4.35961600502228e-05 0 0 0 2 1 6 0 1 SCN1A constrhet 28 C R 1 SCN1A:28:R:C ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930052 rs121917906 C G gnomAD Exomes PASS NA p.Arg27Thr p.Arg27Thr c.80G>C missense_variant segdup 16 7.68772462570391e-05 0 0 0 0 0 13 2 1 SCN1A constrhet 27 T R 1 SCN1A:27:R:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930064 rs139397227 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala23Val p.Ala23Val c.68C>T missense_variant segdup 110 0.000479561941964286 89 19 0 0 0 1 1 0 SCN1A constrhet 23 V A 1 SCN1A:23:A:V ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930100 rs1350460260 G T gnomAD Exomes PASS NA p.Pro11His p.Pro11His c.32C>A missense_variant segdup 2 9.6106716898444e-06 0 0 0 0 0 2 0 0 SCN1A constrhet 11 H P 1 SCN1A:11:P:H ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 2 166930110 rs1400870623 G T gnomAD Exomes PASS NA p.Pro8Thr p.Pro8Thr c.22C>A missense_variant segdup 2 9.61085642341589e-06 0 0 0 0 2 0 0 0 SCN1A constrhet 8 T P 1 SCN1A:8:P:T ENST00000303395;ENST00000423058;NM_001165963.1;NM_001202435.1 9 140772434 rs187204220 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly17Ser p.Gly17Ser c.49G>A missense_variant lcr 3415 0.125931115864002 239 64 36 4 1006 1959 105 2 CACNA1B constrhet 17 S G 1 CACNA1B:17:G:S ENST00000371372;NM_000718.3 9 140772509 rs1324354103 C T gnomAD Exomes PASS NA p.Arg42Trp p.Arg42Trp c.124C>T missense_variant 3 2.2387057295942e-05 1 1 0 0 0 0 0 1 CACNA1B constrhet 42 W R 1 CACNA1B:42:R:W ENST00000371372;NM_000718.3 9 140772509 rs1324354103 C G gnomAD Exomes PASS NA p.Arg42Gly p.Arg42Gly c.124C>G missense_variant 2 1.49247048639613e-05 0 1 0 0 0 1 0 0 CACNA1B constrhet 42 G R 1 CACNA1B:42:R:G ENST00000371372;NM_000718.3 9 140772533 rs750256540 G T gnomAD Exomes PASS NA p.Ala50Ser p.Ala50Ser c.148G>T missense_variant 3 1.56846342866106e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 50 S A 1 CACNA1B:50:A:S ENST00000371372;NM_000718.3 9 140772564 rs377621007 A G gnomAD Exomes PASS NA p.Asn60Ser p.Asn60Ser c.179A>G missense_variant 2 9.94243331112857e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 60 S N 1 CACNA1B:60:N:S ENST00000371372;NM_000718.3 9 140772575 rs772139423 G C gnomAD Exomes PASS NA p.Val64Leu p.Val64Leu c.190G>C missense_variant 10 4.94320260210185e-05 0 0 0 10 0 0 0 0 CACNA1B constrhet 64 L V 1 CACNA1B:64:V:L ENST00000371372;NM_000718.3 9 140772582 rs753538003 A G gnomAD Exomes PASS NA p.Gln66Arg p.Gln66Arg c.197A>G missense_variant 6 2.95316283739885e-05 0 0 0 0 0 6 0 0 CACNA1B constrhet 66 R Q 1 CACNA1B:66:Q:R ENST00000371372;NM_000718.3 9 140772608 rs370377726 C T gnomAD Exomes PASS NA p.Leu75Phe p.Leu75Phe c.223C>T missense_variant 6 2.9500555593797e-05 4 0 0 0 0 1 1 0 CACNA1B constrhet 75 F L 1 CACNA1B:75:L:F ENST00000371372;NM_000718.3 9 140772613 rs139719558 C A gnomAD Exomes PASS NA p.Phe76Leu p.Phe76Leu c.228C>A missense_variant 2 9.86358659735853e-06 0 0 0 0 0 0 0 2 CACNA1B constrhet 76 L F 1 CACNA1B:76:F:L ENST00000371372;NM_000718.3 9 140772626 rs201529170 G T gnomAD Exomes PASS NA p.Asp81Tyr p.Asp81Tyr c.241G>T missense_variant 4 1.97786766087481e-05 0 3 0 0 0 1 0 0 CACNA1B constrhet 81 Y D 1 CACNA1B:81:D:Y ENST00000371372;NM_000718.3 9 140773529 rs1328031981 C T gnomAD Genomes NA PASS p.Ala103Val p.Ala103Val c.308C>T missense_variant 2 9.40291490362012e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 103 V A 1 CACNA1B:103:A:V ENST00000371372;NM_000718.3 9 140773592 rs764544331 C T gnomAD Exomes PASS NA p.Thr124Met p.Thr124Met c.371C>T missense_variant 2 9.72441021452049e-06 0 2 0 0 0 0 0 0 CACNA1B constrhet 124 M T 1 CACNA1B:124:T:M ENST00000371372;NM_000718.3 9 140777199 rs762168298 G A gnomAD Exomes PASS NA p.Asp132Asn p.Asp132Asn c.394G>A missense_variant 2 9.70572249398245e-06 1 0 0 0 0 1 0 0 CACNA1B constrhet 132 N D 1 CACNA1B:132:D:N ENST00000371372;NM_000718.3 9 140777220 rs200313157 G C gnomAD Exomes PASS NA p.Gly139Arg p.Gly139Arg c.415G>C missense_variant 13 6.30835225839011e-05 0 2 0 0 0 2 0 9 CACNA1B constrhet 139 R G 1 CACNA1B:139:G:R ENST00000371372;NM_000718.3 9 140777232 rs201556124 T C gnomAD Exomes PASS NA p.Phe143Leu p.Phe143Leu c.427T>C missense_variant 3 1.45561820104999e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 143 L F 1 CACNA1B:143:F:L ENST00000371372;NM_000718.3 9 140777234 rs199726113 C G gnomAD Exomes PASS NA p.Phe143Leu p.Phe143Leu c.429C>G missense_variant 2 9.70449803483915e-06 1 0 0 1 0 0 0 0 CACNA1B constrhet 143 L F 1 CACNA1B:143:F:L ENST00000371372;NM_000718.3 9 140777254 rs749326851 T C gnomAD Exomes PASS NA p.Ile150Thr p.Ile150Thr c.449T>C missense_variant 2 9.70374467507011e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 150 T I 1 CACNA1B:150:I:T ENST00000371372;NM_000718.3 9 140777298 rs199937787 G A gnomAD Exomes PASS NA p.Gly165Ser p.Gly165Ser c.493G>A missense_variant 7 3.39650838937572e-05 0 0 0 0 1 5 1 0 CACNA1B constrhet 165 S G 1 CACNA1B:165:G:S ENST00000371372;NM_000718.3 9 140777298 rs199937787 G T gnomAD Exomes PASS NA p.Gly165Cys p.Gly165Cys c.493G>T missense_variant 2 9.70430968393063e-06 1 0 0 0 1 0 0 0 CACNA1B constrhet 165 C G 1 CACNA1B:165:G:C ENST00000371372;NM_000718.3 9 140777322 rs79823655 G A gnomAD Exomes PASS NA p.Val173Ile p.Val173Ile c.517G>A missense_variant 2 9.70336803904635e-06 0 2 0 0 0 0 0 0 CACNA1B constrhet 173 I V 1 CACNA1B:173:V:I ENST00000371372;NM_000718.3 9 140807643 rs368437421 C T gnomAD Exomes PASS NA p.Thr181Met p.Thr181Met c.542C>T missense_variant 3 1.4670500557479e-05 1 0 0 0 0 1 0 1 CACNA1B constrhet 181 M T 1 CACNA1B:181:T:M ENST00000371372;NM_000718.3 9 140807660 rs754208034 G A gnomAD Exomes PASS NA p.Asp187Asn p.Asp187Asn c.559G>A missense_variant 2 9.77364244106494e-06 0 0 0 0 0 1 0 1 CACNA1B constrhet 187 N D 1 CACNA1B:187:D:N ENST00000371372;NM_000718.3 9 140809145 rs779795778 T C gnomAD Exomes PASS NA p.Val221Ala p.Val221Ala c.662T>C missense_variant 4 1.94267175646667e-05 0 4 0 0 0 0 0 0 CACNA1B constrhet 221 A V 1 CACNA1B:221:V:A ENST00000371372;NM_000718.3 9 140811696 rs200683902 C T gnomAD Exomes PASS NA p.Ala260Val p.Ala260Val c.779C>T missense_variant 3 1.47730854081311e-05 1 0 0 0 0 1 0 1 CACNA1B constrhet 260 V A 1 CACNA1B:260:A:V ENST00000371372;NM_000718.3 9 140811701 rs74789479 C T gnomAD Exomes PASS NA p.Pro262Ser p.Pro262Ser c.784C>T missense_variant 2 9.78684256885044e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 262 S P 1 CACNA1B:262:P:S ENST00000371372;NM_000718.3 9 140811704 rs201307791 G A gnomAD Exomes PASS NA p.Val263Met p.Val263Met c.787G>A missense_variant 2 9.76324139614352e-06 0 1 0 0 0 1 0 0 CACNA1B constrhet 263 M V 1 CACNA1B:263:V:M ENST00000371372;NM_000718.3 9 140811741 rs989224706 G A gnomAD Exomes PASS NA p.Arg275Gln p.Arg275Gln c.824G>A missense_variant 2 9.7122267222206e-06 0 0 0 0 0 1 0 1 CACNA1B constrhet 275 Q R 1 CACNA1B:275:R:Q ENST00000371372;NM_000718.3 9 140811749 rs201779125 G A gnomAD Exomes PASS NA p.Glu278Lys p.Glu278Lys c.832G>A missense_variant 14 6.795852588249e-05 0 0 0 0 0 1 0 13 CACNA1B constrhet 278 K E 1 CACNA1B:278:E:K ENST00000371372;NM_000718.3 9 140811755 rs200775337 G A gnomAD Exomes PASS NA p.Asp280Asn p.Asp280Asn c.838G>A missense_variant 3 1.45604208932333e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 280 N D 1 CACNA1B:280:D:N ENST00000371372;NM_000718.3 9 140811768 rs563448820 G A gnomAD Exomes PASS NA p.Arg284Gln p.Arg284Gln c.851G>A missense_variant 3 1.45592902831297e-05 0 1 0 1 0 1 0 0 CACNA1B constrhet 284 Q R 1 CACNA1B:284:R:Q ENST00000371372;NM_000718.3 9 140811834 rs774542091 C T gnomAD Exomes PASS NA p.Thr306Met p.Thr306Met c.917C>T missense_variant 3 1.45553345301053e-05 0 1 0 0 0 2 0 0 CACNA1B constrhet 306 M T 1 CACNA1B:306:T:M ENST00000371372;NM_000718.3 9 140846783 rs748642696 A G gnomAD Exomes PASS NA p.Ile342Val p.Ile342Val c.1024A>G missense_variant 4 1.94080543425522e-05 0 3 0 0 0 1 0 0 CACNA1B constrhet 342 V I 1 CACNA1B:342:I:V ENST00000371372;NM_000718.3 9 140850190 rs768660275 G A gnomAD Exomes PASS NA p.Ala371Thr p.Ala371Thr c.1111G>A missense_variant 6 2.94198407405955e-05 0 2 0 1 0 2 0 1 CACNA1B constrhet 371 T A 1 CACNA1B:371:A:T ENST00000371372;NM_000718.3 9 140850208 rs1436569143 C T gnomAD Genomes NA PASS p.Arg377Trp p.Arg377Trp c.1129C>T missense_variant 3 0.00014120304998588 0 0 0 0 0 3 0 0 CACNA1B constrhet 377 W R 1 CACNA1B:377:R:W ENST00000371372;NM_000718.3 9 140850232 rs759775042 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu385Val p.Leu385Val c.1153C>G missense_variant 4 1.79775280898876e-05 0 0 0 0 0 4 0 0 CACNA1B constrhet 385 V L 1 CACNA1B:385:L:V ENST00000371372;NM_000718.3 9 140850236 rs371607646 A G gnomAD Exomes PASS NA p.Asn386Ser p.Asn386Ser c.1157A>G missense_variant 3 1.49696116882728e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 386 S N 1 CACNA1B:386:N:S ENST00000371372;NM_000718.3 9 140851246 rs753528720 G A gnomAD Exomes PASS NA p.Asp404Asn p.Asp404Asn c.1210G>A missense_variant 3 1.45554757699847e-05 0 0 0 3 0 0 0 0 CACNA1B constrhet 404 N D 1 CACNA1B:404:D:N ENST00000371372;NM_000718.3 9 140852074 rs757840683 A G gnomAD Exomes PASS NA p.Lys423Arg p.Lys423Arg c.1268A>G missense_variant 2 1.05472993639978e-05 1 0 0 0 0 1 0 0 CACNA1B constrhet 423 R K 1 CACNA1B:423:K:R ENST00000371372;NM_000718.3 9 140852077 rs199681577 G A gnomAD Exomes PASS NA p.Ser424Asn p.Ser424Asn c.1271G>A missense_variant 6 3.15116120290327e-05 1 0 0 0 0 5 0 0 CACNA1B constrhet 424 N S 1 CACNA1B:424:S:N ENST00000371372;NM_000718.3 9 140852095 rs200845727 A G gnomAD Exomes PASS NA p.His430Arg p.His430Arg c.1289A>G missense_variant 8 4.14512067482565e-05 0 0 0 0 0 7 1 0 CACNA1B constrhet 430 R H 1 CACNA1B:430:H:R ENST00000371372;NM_000718.3 9 140852115 rs761233759 C T gnomAD Exomes PASS NA p.Arg437Trp p.Arg437Trp c.1309C>T missense_variant 5 2.64951195989699e-05 0 0 1 0 1 3 0 0 CACNA1B constrhet 437 W R 1 CACNA1B:437:R:W ENST00000371372;NM_000718.3 9 140852131 rs1474336159 G A gnomAD Genomes NA PASS p.Cys442Tyr p.Cys442Tyr c.1325G>A missense_variant 2 9.40999341300461e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 442 Y C 1 CACNA1B:442:C:Y ENST00000371372;NM_000718.3 9 140865846 rs762469618 G A gnomAD Exomes PASS NA p.Ala449Thr p.Ala449Thr c.1345G>A missense_variant 3 1.49284925208252e-05 0 0 0 0 0 1 0 2 CACNA1B constrhet 449 T A 1 CACNA1B:449:A:T ENST00000371372;NM_000718.3 9 140865849 rs188672212 C T gnomAD Exomes PASS NA p.Arg450Cys p.Arg450Cys c.1348C>T missense_variant 10 4.94491366180746e-05 0 3 0 0 0 5 0 2 CACNA1B constrhet 450 C R 1 CACNA1B:450:R:C ENST00000371372;NM_000718.3 9 140865850 rs751010507 G A gnomAD Exomes PASS NA p.Arg450His p.Arg450His c.1349G>A missense_variant 3 1.48080871900174e-05 0 0 0 1 0 0 0 2 CACNA1B constrhet 450 H R 1 CACNA1B:450:R:H ENST00000371372;NM_000718.3 9 140865852 rs767512760 G A gnomAD Exomes PASS NA p.Ala451Thr p.Ala451Thr c.1351G>A missense_variant 5 2.46332114810472e-05 1 0 0 0 0 2 0 2 CACNA1B constrhet 451 T A 1 CACNA1B:451:A:T ENST00000371372;NM_000718.3 9 140865867 rs200273878 G A gnomAD Exomes PASS NA p.Gly456Arg p.Gly456Arg c.1366G>A missense_variant 4 1.9559902200489e-05 1 1 0 0 0 1 0 1 CACNA1B constrhet 456 R G 1 CACNA1B:456:G:R ENST00000371372;NM_000718.3 9 140865878 rs778014514 G C gnomAD Exomes PASS NA p.Glu459Asp p.Glu459Asp c.1377G>C missense_variant 3 1.46381450542587e-05 0 0 0 0 0 0 0 3 CACNA1B constrhet 459 D E 1 CACNA1B:459:E:D ENST00000371372;NM_000718.3 9 140865894 rs527584827 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg465Trp p.Arg465Trp c.1393C>T missense_variant 3 1.32647105640155e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 465 W R 1 CACNA1B:465:R:W ENST00000371372;NM_000718.3 9 140865895 rs200510570 G A gnomAD Exomes PASS NA p.Arg465Gln p.Arg465Gln c.1394G>A missense_variant 6 2.92891522743027e-05 0 4 0 0 0 2 0 0 CACNA1B constrhet 465 Q R 1 CACNA1B:465:R:Q ENST00000371372;NM_000718.3 9 140865895 rs200510570 G T gnomAD Exomes PASS NA p.Arg465Leu p.Arg465Leu c.1394G>T missense_variant 7 3.41706776533531e-05 0 0 0 1 0 2 0 4 CACNA1B constrhet 465 L R 1 CACNA1B:465:R:L ENST00000371372;NM_000718.3 9 140865916 rs375224405 G A gnomAD Exomes PASS NA p.Arg472Gln p.Arg472Gln c.1415G>A missense_variant 2 9.75562167699137e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 472 Q R 1 CACNA1B:472:R:Q ENST00000371372;NM_000718.3 9 140865927 rs1436598209 C T gnomAD Exomes PASS NA p.Arg476Trp p.Arg476Trp c.1426C>T missense_variant 3 1.46511559762065e-05 0 0 0 0 0 2 0 1 CACNA1B constrhet 476 W R 1 CACNA1B:476:R:W ENST00000371372;NM_000718.3 9 140865972 rs371923901 G A gnomAD Exomes PASS NA p.Val491Met p.Val491Met c.1471G>A missense_variant 6 2.92093041370111e-05 0 1 0 1 0 4 0 0 CACNA1B constrhet 491 M V 1 CACNA1B:491:V:M ENST00000371372;NM_000718.3 9 140865981 rs1468877062 C A gnomAD Exomes PASS NA p.Leu494Met p.Leu494Met c.1480C>A missense_variant 2 9.73908978466872e-06 0 0 0 1 0 1 0 0 CACNA1B constrhet 494 M L 1 CACNA1B:494:L:M ENST00000371372;NM_000718.3 9 140865990 rs746404190 C G gnomAD Exomes PASS NA p.Leu497Val p.Leu497Val c.1489C>G missense_variant 5 2.4350333112557e-05 0 0 0 0 0 0 0 5 CACNA1B constrhet 497 V L 1 CACNA1B:497:L:V ENST00000371372;NM_000718.3 9 140865997 rs770139151 T G gnomAD Exomes PASS NA p.Val499Gly p.Val499Gly c.1496T>G missense_variant 2 9.74203101862676e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 499 G V 1 CACNA1B:499:V:G ENST00000371372;NM_000718.3 9 140865999 rs780468318 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala500Ser p.Ala500Ser c.1498G>T missense_variant 2 8.83150374014183e-06 0 0 0 0 2 0 0 0 CACNA1B constrhet 500 S A 1 CACNA1B:500:A:S ENST00000371372;NM_000718.3 9 140866024 rs200683607 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg508Gln p.Arg508Gln c.1523G>A missense_variant 19 8.43731959678494e-05 1 1 0 0 1 15 1 0 CACNA1B constrhet 508 Q R 1 CACNA1B:508:R:Q ENST00000371372;NM_000718.3 9 140866026 rs772548355 C T gnomAD Exomes PASS NA p.Arg509Trp p.Arg509Trp c.1525C>T missense_variant 3 1.47347740667976e-05 0 0 0 1 0 1 0 1 CACNA1B constrhet 509 W R 1 CACNA1B:509:R:W ENST00000371372;NM_000718.3 9 140866027 rs201640046 G A gnomAD Exomes PASS NA p.Arg509Gln p.Arg509Gln c.1526G>A missense_variant 15 7.36593989393047e-05 0 15 0 0 0 0 0 0 CACNA1B constrhet 509 Q R 1 CACNA1B:509:R:Q ENST00000371372;NM_000718.3 9 140866036 rs759452177 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr512Met p.Thr512Met c.1535C>T missense_variant 13 5.79291659982532e-05 0 5 0 0 0 7 0 1 CACNA1B constrhet 512 M T 1 CACNA1B:512:T:M ENST00000371372;NM_000718.3 9 140870442 rs200270869 C T gnomAD Exomes PASS NA p.Arg543Trp p.Arg543Trp c.1627C>T missense_variant 6 2.91638717956196e-05 0 0 0 0 0 1 0 5 CACNA1B constrhet 543 W R 1 CACNA1B:543:R:W ENST00000371372;NM_000718.3 9 140870443 rs201293567 G A gnomAD Exomes PASS NA p.Arg543Gln p.Arg543Gln c.1628G>A missense_variant 5 2.43091344003423e-05 0 1 0 1 0 3 0 0 CACNA1B constrhet 543 Q R 1 CACNA1B:543:R:Q ENST00000371372;NM_000718.3 9 140878596 rs576957409 G A gnomAD Exomes PASS NA p.Val555Met p.Val555Met c.1663G>A missense_variant 5 2.77392510402219e-05 0 0 0 0 0 3 0 2 CACNA1B constrhet 555 M V 1 CACNA1B:555:V:M ENST00000371372;NM_000718.3 9 140878605 rs199883860 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val558Ile p.Val558Ile c.1672G>A missense_variant 3 1.44926135979363e-05 0 0 0 0 0 2 1 0 CACNA1B constrhet 558 I V 1 CACNA1B:558:V:I ENST00000371372;NM_000718.3 9 140878626 rs780187372 G A gnomAD Exomes PASS NA p.Ala565Thr p.Ala565Thr c.1693G>A missense_variant 2 1.04929592243605e-05 1 0 0 1 0 0 0 0 CACNA1B constrhet 565 T A 1 CACNA1B:565:A:T ENST00000371372;NM_000718.3 9 140878626 rs780187372 G T gnomAD Exomes PASS NA p.Ala565Ser p.Ala565Ser c.1693G>T missense_variant 2 1.04929592243605e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 565 S A 1 CACNA1B:565:A:S ENST00000371372;NM_000718.3 9 140878629 rs1410036275 A G gnomAD Exomes PASS NA p.Ile566Val p.Ile566Val c.1696A>G missense_variant 2 1.04279636272629e-05 0 2 0 0 0 0 0 0 CACNA1B constrhet 566 V I 1 CACNA1B:566:I:V ENST00000371372;NM_000718.3 9 140878638 rs201094487 G A gnomAD Exomes PASS NA p.Gly569Arg p.Gly569Arg c.1705G>A missense_variant 3 1.55530670648252e-05 0 1 0 0 0 1 0 1 CACNA1B constrhet 569 R G 1 CACNA1B:569:G:R ENST00000371372;NM_000718.3 9 140878639 rs774148111 G A gnomAD Exomes PASS NA p.Gly569Glu p.Gly569Glu c.1706G>A missense_variant 2 1.03538961711292e-05 2 0 0 0 0 0 0 0 CACNA1B constrhet 569 E G 1 CACNA1B:569:G:E ENST00000371372;NM_000718.3 9 140880882 rs1402354374 G A gnomAD Exomes PASS NA p.Arg596Gln p.Arg596Gln c.1787G>A missense_variant 2 9.72374831049873e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 596 Q R 1 CACNA1B:596:R:Q ENST00000371372;NM_000718.3 9 140881239 rs778810624 A G gnomAD Exomes PASS NA p.Asn636Ser p.Asn636Ser c.1907A>G missense_variant 3 1.45583011433119e-05 0 2 0 0 0 0 0 1 CACNA1B constrhet 636 S N 1 CACNA1B:636:N:S ENST00000371372;NM_000718.3 9 140901264 rs747544100 G A gnomAD Exomes PASS NA p.Glu674Lys p.Glu674Lys c.2020G>A missense_variant 5 2.42935437478136e-05 0 5 0 0 0 0 0 0 CACNA1B constrhet 674 K E 1 CACNA1B:674:E:K ENST00000371372;NM_000718.3 9 140907582 rs774466218 A G gnomAD Exomes PASS NA p.Asp721Gly p.Asp721Gly c.2162A>G missense_variant 4 1.94469293298588e-05 0 0 0 0 0 4 0 0 CACNA1B constrhet 721 G D 1 CACNA1B:721:D:G ENST00000371372;NM_000718.3 9 140907595 rs762044142 G A gnomAD Exomes PASS NA p.Met725Ile p.Met725Ile c.2175G>A missense_variant 3 1.45822194137948e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 725 I M 1 CACNA1B:725:M:I ENST00000371372;NM_000718.3 9 140907605 rs767508045 G A gnomAD Exomes PASS NA p.Ala729Thr p.Ala729Thr c.2185G>A missense_variant 4 1.94565777825338e-05 0 0 0 0 0 0 0 4 CACNA1B constrhet 729 T A 1 CACNA1B:729:A:T ENST00000371372;NM_000718.3 9 140907609 rs1474661059 A G gnomAD Exomes PASS NA p.Asn730Ser p.Asn730Ser c.2189A>G missense_variant 2 9.73122360405597e-06 0 0 0 0 0 1 0 1 CACNA1B constrhet 730 S N 1 CACNA1B:730:N:S ENST00000371372;NM_000718.3 9 140907666 rs373842575 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala749Val p.Ala749Val c.2246C>T missense_variant 2 9.33741689698962e-06 2 0 0 0 0 0 0 0 CACNA1B constrhet 749 V A 1 CACNA1B:749:A:V ENST00000371372;NM_000718.3 9 140907668 rs199685241 G A gnomAD Exomes PASS NA p.Ala750Thr p.Ala750Thr c.2248G>A missense_variant 3 1.5563556376389e-05 0 0 0 0 0 2 0 1 CACNA1B constrhet 750 T A 1 CACNA1B:750:A:T ENST00000371372;NM_000718.3 9 140907669 rs200288130 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala750Val p.Ala750Val c.2249C>T missense_variant 9 4.21917191719172e-05 0 0 0 0 0 9 0 0 CACNA1B constrhet 750 V A 1 CACNA1B:750:A:V ENST00000371372;NM_000718.3 9 140907674 rs561098435 A G gnomAD Exomes PASS NA p.Ile752Val p.Ile752Val c.2254A>G missense_variant 9 4.72644392862019e-05 2 1 0 0 0 6 0 0 CACNA1B constrhet 752 V I 1 CACNA1B:752:I:V ENST00000371372;NM_000718.3 9 140907683 rs375775314 G A gnomAD Exomes PASS NA p.Ala755Thr p.Ala755Thr c.2263G>A missense_variant 5 2.77802471330785e-05 0 2 0 0 0 3 0 0 CACNA1B constrhet 755 T A 1 CACNA1B:755:A:T ENST00000371372;NM_000718.3 9 140907686 rs200762767 G A gnomAD Exomes PASS NA p.Ala756Thr p.Ala756Thr c.2266G>A missense_variant 15 8.36512079234424e-05 0 1 0 1 0 11 2 0 CACNA1B constrhet 756 T A 1 CACNA1B:756:A:T ENST00000371372;NM_000718.3 9 140907687 rs201481972 C T gnomAD Genomes NA PASS p.Ala756Val p.Ala756Val c.2267C>T missense_variant 2 9.41265060240964e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 756 V A 1 CACNA1B:756:A:V ENST00000371372;NM_000718.3 9 140917464 rs200576542 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg757Gly p.Arg757Gly c.2269A>G missense_variant 20 0.000185161182809636 0 0 0 0 0 1 0 19 CACNA1B constrhet 757 G R 1 CACNA1B:757:R:G ENST00000371372;NM_000718.3 9 140917486 rs1209004890 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala764Gly p.Ala764Gly c.2291C>G missense_variant 2 1.67866915109701e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 764 G A 1 CACNA1B:764:A:G ENST00000371372;NM_000718.3 9 140917510 rs1160412846 C A gnomAD Exomes PASS NA p.Ala772Asp p.Ala772Asp c.2315C>A missense_variant 3 2.82821426551276e-05 2 0 0 0 0 1 0 0 CACNA1B constrhet 772 D A 1 CACNA1B:772:A:D ENST00000371372;NM_000718.3 9 140917571 rs764530866 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp792Glu p.Asp792Glu c.2376C>A missense_variant 9 6.65798662484465e-05 0 0 7 0 0 2 0 0 CACNA1B constrhet 792 E D 1 CACNA1B:792:D:E ENST00000371372;NM_000718.3 9 140917580 rs199877794 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu795Asp p.Glu795Asp c.2385G>C missense_variant 10 7.39754401538689e-05 0 0 0 0 1 9 0 0 CACNA1B constrhet 795 D E 1 CACNA1B:795:E:D ENST00000371372;NM_000718.3 9 140917667 rs765769256 C A gnomAD Exomes PASS NA p.Asp824Glu p.Asp824Glu c.2472C>A missense_variant 2 2.21425091891413e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 824 E D 1 CACNA1B:824:D:E ENST00000371372;NM_000718.3 9 140917675 rs753837922 G C gnomAD Exomes PASS NA p.Arg827Pro p.Arg827Pro c.2480G>C missense_variant 2 2.24850474434501e-05 0 0 0 2 0 0 0 0 CACNA1B constrhet 827 P R 1 CACNA1B:827:R:P ENST00000371372;NM_000718.3 9 140917686 rs891641720 G A gnomAD Exomes PASS NA p.Gly831Arg p.Gly831Arg c.2491G>A missense_variant 3 3.26321056410033e-05 0 2 0 0 0 1 0 0 CACNA1B constrhet 831 R G 1 CACNA1B:831:G:R ENST00000371372;NM_000718.3 9 140917698 rs778687322 C G gnomAD Exomes PASS NA p.Arg835Gly p.Arg835Gly c.2503C>G missense_variant 4 4.38327342859648e-05 0 0 0 0 0 0 0 4 CACNA1B constrhet 835 G R 1 CACNA1B:835:R:G ENST00000371372;NM_000718.3 9 140917752 rs1415840122 C G gnomAD Exomes PASS NA p.Arg853Gly p.Arg853Gly c.2557C>G missense_variant 2 2.13547450243444e-05 0 2 0 0 0 0 0 0 CACNA1B constrhet 853 G R 1 CACNA1B:853:R:G ENST00000371372;NM_000718.3 9 140917761 rs1317360652 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp856His p.Asp856His c.2566G>C missense_variant 6 5.24943568566379e-05 0 0 0 0 0 6 0 0 CACNA1B constrhet 856 H D 1 CACNA1B:856:D:H ENST00000371372;NM_000718.3 9 140917763 rs1400846152 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp856Glu p.Asp856Glu c.2568C>G missense_variant 6 5.23797883856549e-05 0 0 0 0 0 6 0 0 CACNA1B constrhet 856 E D 1 CACNA1B:856:D:E ENST00000371372;NM_000718.3 9 140917776 rs572088326 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro861Ser p.Pro861Ser c.2581C>T missense_variant 239 0.00224725440048142 197 32 0 0 0 8 2 0 CACNA1B constrhet 861 S P 1 CACNA1B:861:P:S ENST00000371372;NM_000718.3 9 140917779 rs7873074 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala862Ser p.Ala862Ser c.2584G>T missense_variant 23330 0.22187351402758 3161 2099 667 3410 606 7497 655 5235 CACNA1B constrhet 862 S A 1 CACNA1B:862:A:S ENST00000371372;NM_000718.3 9 140917852 rs753223370 C T gnomAD Exomes PASS NA p.Pro886Leu p.Pro886Leu c.2657C>T missense_variant 3 0.000421822272215973 0 0 0 0 0 0 0 3 CACNA1B constrhet 886 L P 1 CACNA1B:886:P:L ENST00000371372;NM_000718.3 9 140917876 rs550100275 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys894Met p.Lys894Met c.2681A>T missense_variant 3 0.000143554407120299 0 0 0 0 0 0 1 2 CACNA1B constrhet 894 M K 1 CACNA1B:894:K:M ENST00000371372;NM_000718.3 9 140917908 rs1035718413 G A gnomAD Genomes NA PASS p.Glu905Lys p.Glu905Lys c.2713G>A missense_variant 5 0.000261752696052769 5 0 0 0 0 0 0 0 CACNA1B constrhet 905 K E 1 CACNA1B:905:E:K ENST00000371372;NM_000718.3 9 140917954 rs752596520 G A gnomAD Exomes PASS NA p.Arg920Gln p.Arg920Gln c.2759G>A missense_variant 3 0.00346420323325635 0 0 0 0 0 1 0 2 CACNA1B constrhet 920 Q R 1 CACNA1B:920:R:Q ENST00000371372;NM_000718.3 9 140918094 rs200418906 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg967Trp p.Arg967Trp c.2899C>T missense_variant 3 3.34537668941523e-05 0 0 0 0 0 2 1 0 CACNA1B constrhet 967 W R 1 CACNA1B:967:R:W ENST00000371372;NM_000718.3 9 140918095 rs756222642 G C gnomAD Exomes PASS NA p.Arg967Pro p.Arg967Pro c.2900G>C missense_variant 3 4.20120994846516e-05 0 0 0 0 3 0 0 0 CACNA1B constrhet 967 P R 1 CACNA1B:967:R:P ENST00000371372;NM_000718.3 9 140918103 rs780317106 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu970Lys p.Glu970Lys c.2908G>A missense_variant 4 4.15385893495057e-05 0 0 0 4 0 0 0 0 CACNA1B constrhet 970 K E 1 CACNA1B:970:E:K ENST00000371372;NM_000718.3 9 140918112 rs1056703931 G A gnomAD Genomes NA PASS p.Glu973Lys p.Glu973Lys c.2917G>A missense_variant 2 9.91375037176564e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 973 K E 1 CACNA1B:973:E:K ENST00000371372;NM_000718.3 9 140918116 rs1193136909 A G gnomAD Exomes PASS NA p.Glu974Gly p.Glu974Gly c.2921A>G missense_variant 4 4.60903832415367e-05 0 0 0 0 3 0 0 1 CACNA1B constrhet 974 G E 1 CACNA1B:974:E:G ENST00000371372;NM_000718.3 9 140918119 rs749385928 C T gnomAD Exomes PASS NA p.Pro975Leu p.Pro975Leu c.2924C>T missense_variant 2 2.28195883346264e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 975 L P 1 CACNA1B:975:P:L ENST00000371372;NM_000718.3 9 140918119 rs749385928 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro975Gln p.Pro975Gln c.2924C>A missense_variant 7 6.48965363791441e-05 0 0 0 0 0 7 0 0 CACNA1B constrhet 975 Q P 1 CACNA1B:975:P:Q ENST00000371372;NM_000718.3 9 140918136 rs1042088019 G T gnomAD Exomes PASS NA p.Ala981Ser p.Ala981Ser c.2941G>T missense_variant 2 2.00980786236836e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 981 S A 1 CACNA1B:981:A:S ENST00000371372;NM_000718.3 9 140918137 rs1295638734 C T gnomAD Exomes PASS NA p.Ala981Val p.Ala981Val c.2942C>T missense_variant 2 2.01950845164287e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 981 V A 1 CACNA1B:981:A:V ENST00000371372;NM_000718.3 9 140918175 rs551405755 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys994Glu p.Lys994Glu c.2980A>G missense_variant 20 0.00014135674200981 0 1 0 0 16 3 0 0 CACNA1B constrhet 994 E K 1 CACNA1B:994:K:E ENST00000371372;NM_000718.3 9 140918181 rs11137342 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr996Ala p.Thr996Ala c.2986A>G missense_variant 2996 0.0211310321479454 1477 287 22 56 87 696 64 307 CACNA1B constrhet 996 A T 1 CACNA1B:996:T:A ENST00000371372;NM_000718.3 9 140918185 rs776336878 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr997Met p.Thr997Met c.2990C>T missense_variant 28 0.000200541461947258 3 22 0 2 0 0 1 0 CACNA1B constrhet 997 M T 1 CACNA1B:997:T:M ENST00000371372;NM_000718.3 9 140918205 rs759021546 A G gnomAD Exomes PASS NA p.Lys1004Glu p.Lys1004Glu c.3010A>G missense_variant 3 2.44550597518627e-05 0 0 0 0 0 0 0 3 CACNA1B constrhet 1004 E K 1 CACNA1B:1004:K:E ENST00000371372;NM_000718.3 9 140918239 rs1415231278 A G gnomAD Exomes PASS NA p.Lys1015Arg p.Lys1015Arg c.3044A>G missense_variant 2 1.61420500403551e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 1015 R K 1 CACNA1B:1015:K:R ENST00000371372;NM_000718.3 9 140918255 rs1184131774 C G gnomAD Exomes PASS NA p.His1020Gln p.His1020Gln c.3060C>G missense_variant 2 1.61995788109509e-05 0 2 0 0 0 0 0 0 CACNA1B constrhet 1020 Q H 1 CACNA1B:1020:H:Q ENST00000371372;NM_000718.3 9 140918259 rs1008507936 C A gnomAD Exomes PASS NA p.Pro1022Thr p.Pro1022Thr c.3064C>A missense_variant 4 3.24912679717326e-05 0 0 0 0 0 3 1 0 CACNA1B constrhet 1022 T P 1 CACNA1B:1022:P:T ENST00000371372;NM_000718.3 9 140919415 rs1246984491 A G gnomAD Exomes PASS NA p.His1026Arg p.His1026Arg c.3077A>G missense_variant 3 1.85219485089831e-05 0 3 0 0 0 0 0 0 CACNA1B constrhet 1026 R H 1 CACNA1B:1026:H:R ENST00000371372;NM_000718.3 9 140919436 rs769304303 G T gnomAD Exomes PASS NA p.Gly1033Val p.Gly1033Val c.3098G>T missense_variant 2 1.14070609707409e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 1033 V G 1 CACNA1B:1033:G:V ENST00000371372;NM_000718.3 9 140919448 rs774911216 T C gnomAD Exomes PASS NA p.Val1037Ala p.Val1037Ala c.3110T>C missense_variant 2 1.09563826407073e-05 0 2 0 0 0 0 0 0 CACNA1B constrhet 1037 A V 1 CACNA1B:1037:V:A ENST00000371372;NM_000718.3 9 140919485 rs534889794 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1049His p.Gln1049His c.3147G>T missense_variant 5 2.28958695851268e-05 0 3 0 0 0 0 2 0 CACNA1B constrhet 1049 H Q 1 CACNA1B:1049:Q:H ENST00000371372;NM_000718.3 9 140919487 rs1002319771 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1050Met p.Lys1050Met c.3149A>T missense_variant 2 9.12050928923871e-06 2 0 0 0 0 0 0 0 CACNA1B constrhet 1050 M K 1 CACNA1B:1050:K:M ENST00000371372;NM_000718.3 9 140919505 rs201232985 A G gnomAD Exomes PASS NA p.Glu1056Gly p.Glu1056Gly c.3167A>G missense_variant 7 3.45457237329122e-05 0 0 0 0 0 0 0 7 CACNA1B constrhet 1056 G E 1 CACNA1B:1056:E:G ENST00000371372;NM_000718.3 9 140919515 rs752893874 C A gnomAD Exomes PASS NA p.Asp1059Glu p.Asp1059Glu c.3177C>A missense_variant 2 9.81248344143419e-06 2 0 0 0 0 0 0 0 CACNA1B constrhet 1059 E D 1 CACNA1B:1059:D:E ENST00000371372;NM_000718.3 9 140919523 rs201994477 G A gnomAD Exomes PASS NA p.Arg1062Gln p.Arg1062Gln c.3185G>A missense_variant 2 9.79000440550198e-06 0 0 0 0 0 1 0 1 CACNA1B constrhet 1062 Q R 1 CACNA1B:1062:R:Q ENST00000371372;NM_000718.3 9 140919527 rs745521840 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1063Lys p.Asn1063Lys c.3189C>G missense_variant 2 8.85849441029003e-06 0 1 0 0 0 1 0 0 CACNA1B constrhet 1063 K N 1 CACNA1B:1063:N:K ENST00000371372;NM_000718.3 9 140919534 rs769500676 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1066Gly p.Arg1066Gly c.3196C>G missense_variant 2 8.85081073426326e-06 1 1 0 0 0 0 0 0 CACNA1B constrhet 1066 G R 1 CACNA1B:1066:R:G ENST00000371372;NM_000718.3 9 140919535 rs375412976 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1066His p.Arg1066His c.3197G>A missense_variant 3 1.32750411526276e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 1066 H R 1 CACNA1B:1066:R:H ENST00000371372;NM_000718.3 9 140919537 rs748844931 A T gnomAD Exomes PASS NA p.Met1067Leu p.Met1067Leu c.3199A>T missense_variant 2 9.75571685007414e-06 0 0 0 0 0 0 0 2 CACNA1B constrhet 1067 L M 1 CACNA1B:1067:M:L ENST00000371372;NM_000718.3 9 140919538 rs768180760 T C gnomAD Exomes PASS NA p.Met1067Thr p.Met1067Thr c.3200T>C missense_variant 2 9.75371860521824e-06 0 2 0 0 0 0 0 0 CACNA1B constrhet 1067 T M 1 CACNA1B:1067:M:T ENST00000371372;NM_000718.3 9 140919543 rs774187294 A T gnomAD Exomes PASS NA p.Ser1069Cys p.Ser1069Cys c.3205A>T missense_variant 5 2.43643345125671e-05 0 0 0 0 0 0 0 5 CACNA1B constrhet 1069 C S 1 CACNA1B:1069:S:C ENST00000371372;NM_000718.3 9 140919552 rs369699627 C T gnomAD Exomes PASS NA p.Pro1072Ser p.Pro1072Ser c.3214C>T missense_variant 8 3.89928155737305e-05 6 2 0 0 0 0 0 0 CACNA1B constrhet 1072 S P 1 CACNA1B:1072:P:S ENST00000371372;NM_000718.3 9 140919559 rs190549473 C T gnomAD Exomes PASS NA p.Pro1074Leu p.Pro1074Leu c.3221C>T missense_variant 4 1.95112433539827e-05 4 0 0 0 0 0 0 0 CACNA1B constrhet 1074 L P 1 CACNA1B:1074:P:L ENST00000371372;NM_000718.3 9 140919564 rs571591487 A G gnomAD Exomes PASS NA p.Thr1076Ala p.Thr1076Ala c.3226A>G missense_variant 2 9.75238689669297e-06 2 0 0 0 0 0 0 0 CACNA1B constrhet 1076 A T 1 CACNA1B:1076:T:A ENST00000371372;NM_000718.3 9 140919567 rs763169082 A C gnomAD Exomes PASS NA p.Ile1077Leu p.Ile1077Leu c.3229A>C missense_variant 3 1.46302925083149e-05 2 1 0 0 0 0 0 0 CACNA1B constrhet 1077 L I 1 CACNA1B:1077:I:L ENST00000371372;NM_000718.3 9 140919592 rs200291907 C T gnomAD Exomes PASS NA p.Thr1085Met p.Thr1085Met c.3254C>T missense_variant 9 4.42517036905921e-05 0 4 0 0 0 1 3 1 CACNA1B constrhet 1085 M T 1 CACNA1B:1085:T:M ENST00000371372;NM_000718.3 9 140919613 rs200507317 C T gnomAD Exomes PASS NA p.Thr1092Met p.Thr1092Met c.3275C>T missense_variant 6 3.03883632827536e-05 0 1 0 1 0 2 0 2 CACNA1B constrhet 1092 M T 1 CACNA1B:1092:T:M ENST00000371372;NM_000718.3 9 140919618 rs756434498 G A gnomAD Exomes PASS NA p.Val1094Ile p.Val1094Ile c.3280G>A missense_variant 6 3.08061982070793e-05 0 0 0 0 0 5 0 1 CACNA1B constrhet 1094 I V 1 CACNA1B:1094:V:I ENST00000371372;NM_000718.3 9 140938234 rs200861471 G A gnomAD Exomes PASS NA p.Val1099Met p.Val1099Met c.3295G>A missense_variant 171 0.000829766791859551 0 2 0 0 0 1 3 165 CACNA1B constrhet 1099 M V 1 CACNA1B:1099:V:M ENST00000371372;NM_000718.3 9 140938246 rs774656368 A G gnomAD Exomes PASS NA p.Ser1103Gly p.Ser1103Gly c.3307A>G missense_variant 3 1.45568883195528e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 1103 G S 1 CACNA1B:1103:S:G ENST00000371372;NM_000718.3 9 140938249 rs563356360 C A gnomAD Exomes PASS NA p.Gln1104Lys p.Gln1104Lys c.3310C>A missense_variant 2 9.70421551121807e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 1104 K Q 1 CACNA1B:1104:Q:K ENST00000371372;NM_000718.3 9 140938277 rs41277873 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1113Val p.Ala1113Val c.3338C>T missense_variant 81 0.00035633215435781 0 7 0 1 45 27 1 0 CACNA1B constrhet 1113 V A 1 CACNA1B:1113:A:V ENST00000371372;NM_000718.3 9 140938285 rs201934357 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1116Met p.Val1116Met c.3346G>A missense_variant 12 5.27820541016055e-05 1 0 0 0 0 5 0 6 CACNA1B constrhet 1116 M V 1 CACNA1B:1116:V:M ENST00000371372;NM_000718.3 9 140938289 rs756798392 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1117Thr p.Met1117Thr c.3350T>C missense_variant 4 1.75954111167807e-05 2 2 0 0 0 0 0 0 CACNA1B constrhet 1117 T M 1 CACNA1B:1117:M:T ENST00000371372;NM_000718.3 9 140938297 rs563455051 G A gnomAD Exomes PASS NA p.Gly1120Ser p.Gly1120Ser c.3358G>A missense_variant 14 6.79248944738247e-05 0 0 0 0 3 1 1 9 CACNA1B constrhet 1120 S G 1 CACNA1B:1120:G:S ENST00000371372;NM_000718.3 9 140938309 rs748415240 A G gnomAD Exomes PASS NA p.Ile1124Val p.Ile1124Val c.3370A>G missense_variant 3 1.45556170126052e-05 0 0 0 1 0 2 0 0 CACNA1B constrhet 1124 V I 1 CACNA1B:1124:I:V ENST00000371372;NM_000718.3 9 140938312 rs570718684 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1125Ile p.Val1125Ile c.3373G>A missense_variant 5 2.1994457396736e-05 1 2 0 0 0 2 0 0 CACNA1B constrhet 1125 I V 1 CACNA1B:1125:V:I ENST00000371372;NM_000718.3 9 140938322 rs200294825 G C gnomAD Exomes PASS NA p.Ser1128Thr p.Ser1128Thr c.3383G>C missense_variant 10 4.85206067016662e-05 0 0 0 0 0 0 0 10 CACNA1B constrhet 1128 T S 1 CACNA1B:1128:S:T ENST00000371372;NM_000718.3 9 140938323 rs759917282 C A gnomAD Exomes PASS NA p.Ser1128Arg p.Ser1128Arg c.3384C>A missense_variant 12 5.82275532782112e-05 0 12 0 0 0 0 0 0 CACNA1B constrhet 1128 R S 1 CACNA1B:1128:S:R ENST00000371372;NM_000718.3 9 140938342 rs763882338 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1135Ser p.Pro1135Ser c.3403C>T missense_variant 6 2.64028726325424e-05 6 0 0 0 0 0 0 0 CACNA1B constrhet 1135 S P 1 CACNA1B:1135:P:S ENST00000371372;NM_000718.3 9 140938352 rs751237864 T C gnomAD Exomes PASS NA p.Leu1138Pro p.Leu1138Pro c.3413T>C missense_variant 2 9.71401927261424e-06 2 0 0 0 0 0 0 0 CACNA1B constrhet 1138 P L 1 CACNA1B:1138:L:P ENST00000371372;NM_000718.3 9 140941364 rs199841462 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1141His p.Arg1141His c.3422G>A missense_variant 11 4.84769426033e-05 1 1 0 3 0 1 0 5 CACNA1B constrhet 1141 H R 1 CACNA1B:1141:R:H ENST00000371372;NM_000718.3 9 140941414 rs373559930 G A gnomAD Exomes PASS NA p.Val1158Met p.Val1158Met c.3472G>A missense_variant 3 1.45854806402054e-05 0 2 0 1 0 0 0 0 CACNA1B constrhet 1158 M V 1 CACNA1B:1158:V:M ENST00000371372;NM_000718.3 9 140941423 rs200326973 G A gnomAD Exomes PASS NA p.Ala1161Thr p.Ala1161Thr c.3481G>A missense_variant 5 2.43294795437736e-05 0 1 0 2 0 2 0 0 CACNA1B constrhet 1161 T A 1 CACNA1B:1161:A:T ENST00000371372;NM_000718.3 9 140941438 rs554281635 G A gnomAD Exomes PASS NA p.Ala1166Thr p.Ala1166Thr c.3496G>A missense_variant 5 2.43702721671996e-05 1 1 0 0 0 2 0 1 CACNA1B constrhet 1166 T A 1 CACNA1B:1166:A:T ENST00000371372;NM_000718.3 9 140941462 rs201771536 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1174Cys p.Arg1174Cys c.3520C>T missense_variant 5 2.22137316403508e-05 3 1 0 0 0 1 0 0 CACNA1B constrhet 1174 C R 1 CACNA1B:1174:R:C ENST00000371372;NM_000718.3 9 140941463 rs200292544 G A gnomAD Exomes PASS NA p.Arg1174His p.Arg1174His c.3521G>A missense_variant 6 2.94556594140288e-05 0 1 0 0 0 5 0 0 CACNA1B constrhet 1174 H R 1 CACNA1B:1174:R:H ENST00000371372;NM_000718.3 9 140941472 rs770429236 C T gnomAD Exomes PASS NA p.Ser1177Leu p.Ser1177Leu c.3530C>T missense_variant 2 9.85930767941475e-06 0 0 0 0 0 0 0 2 CACNA1B constrhet 1177 L S 1 CACNA1B:1177:S:L ENST00000371372;NM_000718.3 9 140941474 rs775387993 C T gnomAD Exomes PASS NA p.Pro1178Ser p.Pro1178Ser c.3532C>T missense_variant 2 9.86271106201673e-06 0 0 0 0 0 0 0 2 CACNA1B constrhet 1178 S P 1 CACNA1B:1178:P:S ENST00000371372;NM_000718.3 9 140943730 rs200164302 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1225Val p.Ile1225Val c.3673A>G missense_variant 623 0.00274007547302587 0 1 0 0 0 7 6 609 CACNA1B constrhet 1225 V I 1 CACNA1B:1225:I:V ENST00000371372;NM_000718.3 9 140943731 rs201536971 T C gnomAD Exomes PASS NA p.Ile1225Thr p.Ile1225Thr c.3674T>C missense_variant 3 1.45556170126052e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 1225 T I 1 CACNA1B:1225:I:T ENST00000371372;NM_000718.3 9 140948337 rs759343561 C T gnomAD Exomes PASS NA p.Leu1283Phe p.Leu1283Phe c.3847C>T missense_variant 3 1.45563232668271e-05 0 0 0 1 1 1 0 0 CACNA1B constrhet 1283 F L 1 CACNA1B:1283:L:F ENST00000371372;NM_000718.3 9 140948358 rs201272309 A G gnomAD Exomes PASS NA p.Met1290Val p.Met1290Val c.3868A>G missense_variant 11 5.33726673718328e-05 0 2 0 0 0 9 0 0 CACNA1B constrhet 1290 V M 1 CACNA1B:1290:M:V ENST00000371372;NM_000718.3 9 140952197 rs747771087 G A gnomAD Exomes PASS NA p.Asp1328Asn p.Asp1328Asn c.3982G>A missense_variant 2 9.77087302750501e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 1328 N D 1 CACNA1B:1328:D:N ENST00000371372;NM_000718.3 9 140952240 rs776523705 A G gnomAD Exomes PASS NA p.Lys1342Arg p.Lys1342Arg c.4025A>G missense_variant 2 9.765625e-06 0 0 2 0 0 0 0 0 CACNA1B constrhet 1342 R K 1 CACNA1B:1342:K:R ENST00000371372;NM_000718.3 9 140952248 rs765038596 G A gnomAD Exomes PASS NA p.Asp1345Asn p.Asp1345Asn c.4033G>A missense_variant 2 9.76467141880676e-06 0 0 0 0 1 0 0 1 CACNA1B constrhet 1345 N D 1 CACNA1B:1345:D:N ENST00000371372;NM_000718.3 9 140952320 rs370337710 A G gnomAD Exomes PASS NA p.Met1369Val p.Met1369Val c.4105A>G missense_variant 2 9.82048159641749e-06 1 1 0 0 0 0 0 0 CACNA1B constrhet 1369 V M 1 CACNA1B:1369:M:V ENST00000371372;NM_000718.3 9 140952501 rs367839349 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1369Ile p.Met1369Ile c.4107G>A missense_variant 5 2.19971667649207e-05 0 0 0 0 0 5 0 0 CACNA1B constrhet 1369 I M 1 CACNA1B:1369:M:I ENST00000371372;NM_000718.3 9 140952517 rs777421980 G A gnomAD Exomes PASS NA p.Val1375Met p.Val1375Met c.4123G>A missense_variant 3 1.45571708623668e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 1375 M V 1 CACNA1B:1375:V:M ENST00000371372;NM_000718.3 9 140952560 rs184841813 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1389His p.Arg1389His c.4166G>A missense_variant 107 0.000470631702103328 2 18 0 0 0 79 5 3 CACNA1B constrhet 1389 H R 1 CACNA1B:1389:R:H ENST00000371372;NM_000718.3 9 140952590 rs1473814726 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr1399Phe p.Tyr1399Phe c.4196A>T missense_variant 2 8.79654471723507e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 1399 F Y 1 CACNA1B:1399:Y:F ENST00000371372;NM_000718.3 9 140952603 rs768531526 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1403Leu p.Phe1403Leu c.4209T>G missense_variant 7 3.07862816329044e-05 0 0 0 0 7 0 0 0 CACNA1B constrhet 1403 L F 1 CACNA1B:1403:F:L ENST00000371372;NM_000718.3 9 140952686 rs201915962 G A gnomAD Exomes PASS NA p.Ser1431Asn p.Ser1431Asn c.4292G>A missense_variant 2 9.70336803904635e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 1431 N S 1 CACNA1B:1431:S:N ENST00000371372;NM_000718.3 9 140953035 rs779375112 C G gnomAD Exomes PASS NA p.Asp1441Glu p.Asp1441Glu c.4323C>G missense_variant 3 1.47642154788035e-05 0 1 0 0 0 1 0 1 CACNA1B constrhet 1441 E D 1 CACNA1B:1441:D:E ENST00000371372;NM_000718.3 9 140953076 rs781508119 A C gnomAD Exomes PASS NA p.Gln1455Pro p.Gln1455Pro c.4364A>C missense_variant 2 9.7160956841103e-06 0 0 0 0 0 0 0 2 CACNA1B constrhet 1455 P Q 1 CACNA1B:1455:Q:P ENST00000371372;NM_000718.3 9 140953081 rs201837706 C T gnomAD Exomes PASS NA p.Arg1457Trp p.Arg1457Trp c.4369C>T missense_variant 5 2.42937798206147e-05 0 0 0 0 0 5 0 0 CACNA1B constrhet 1457 W R 1 CACNA1B:1457:R:W ENST00000371372;NM_000718.3 9 140953085 rs200021661 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1458Pro p.Gln1458Pro c.4373A>C missense_variant 37 0.000162943912063134 9 5 4 0 0 13 6 0 CACNA1B constrhet 1458 P Q 1 CACNA1B:1458:Q:P ENST00000371372;NM_000718.3 9 140953103 rs769202155 C T gnomAD Exomes PASS NA p.Thr1464Met p.Thr1464Met c.4391C>T missense_variant 2 9.73122360405597e-06 0 0 0 1 0 0 0 1 CACNA1B constrhet 1464 M T 1 CACNA1B:1464:T:M ENST00000371372;NM_000718.3 9 140953124 rs200167577 C T gnomAD Exomes PASS NA p.Pro1471Leu p.Pro1471Leu c.4412C>T missense_variant 4 1.96180368230551e-05 0 1 0 0 0 2 0 1 CACNA1B constrhet 1471 L P 1 CACNA1B:1471:P:L ENST00000371372;NM_000718.3 9 140953126 rs766053710 C T gnomAD Exomes PASS NA p.Pro1472Ser p.Pro1472Ser c.4414C>T missense_variant 3 1.47025670682101e-05 0 2 0 0 0 1 0 0 CACNA1B constrhet 1472 S P 1 CACNA1B:1472:P:S ENST00000371372;NM_000718.3 9 140953177 rs746804730 A C gnomAD Exomes PASS NA p.Met1489Leu p.Met1489Leu c.4465A>C missense_variant 5 2.60840532532031e-05 0 0 0 0 0 5 0 0 CACNA1B constrhet 1489 L M 1 CACNA1B:1489:M:L ENST00000371372;NM_000718.3 9 140953535 rs1340807243 A G gnomAD Exomes PASS NA p.Tyr1493Cys p.Tyr1493Cys c.4478A>G missense_variant 2 9.76963207565603e-06 0 0 0 2 0 0 0 0 CACNA1B constrhet 1493 C Y 1 CACNA1B:1493:Y:C ENST00000371372;NM_000718.3 9 140953582 rs141513326 G A gnomAD Exomes PASS NA p.Val1509Met p.Val1509Met c.4525G>A missense_variant 7 3.40215404953536e-05 1 4 0 0 0 1 0 1 CACNA1B constrhet 1509 M V 1 CACNA1B:1509:V:M ENST00000371372;NM_000718.3 9 140953583 rs759207020 T C gnomAD Exomes PASS NA p.Val1509Ala p.Val1509Ala c.4526T>C missense_variant 3 1.45786762561959e-05 0 0 0 0 0 0 0 3 CACNA1B constrhet 1509 A V 1 CACNA1B:1509:V:A ENST00000371372;NM_000718.3 9 140953596 rs201173113 G A gnomAD Exomes PASS NA p.Met1513Ile p.Met1513Ile c.4539G>A missense_variant 5 2.4299683132132e-05 0 2 0 0 0 2 0 1 CACNA1B constrhet 1513 I M 1 CACNA1B:1513:M:I ENST00000371372;NM_000718.3 9 140953612 rs757009018 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1519Met p.Val1519Met c.4555G>A missense_variant 7 3.08603876064683e-05 5 1 0 0 0 1 0 0 CACNA1B constrhet 1519 M V 1 CACNA1B:1519:V:M ENST00000371372;NM_000718.3 9 140953627 rs750210669 G A gnomAD Exomes PASS NA p.Ala1524Thr p.Ala1524Thr c.4570G>A missense_variant 3 1.46248720323697e-05 0 0 0 1 0 0 0 2 CACNA1B constrhet 1524 T A 1 CACNA1B:1524:A:T ENST00000371372;NM_000718.3 9 140954142 rs369261226 G A gnomAD Exomes PASS NA p.Val1541Ile p.Val1541Ile c.4621G>A missense_variant 3 1.4559007658038e-05 0 0 0 3 0 0 0 0 CACNA1B constrhet 1541 I V 1 CACNA1B:1541:V:I ENST00000371372;NM_000718.3 9 140954186 rs779579918 T G gnomAD Exomes PASS NA p.Ile1555Met p.Ile1555Met c.4665T>G missense_variant 2 9.70732417609086e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 1555 M I 1 CACNA1B:1555:I:M ENST00000371372;NM_000718.3 9 140954188 rs199500748 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1556Val p.Ala1556Val c.4667C>T missense_variant 11 4.84044144826008e-05 1 2 0 1 0 6 0 1 CACNA1B constrhet 1556 V A 1 CACNA1B:1556:A:V ENST00000371372;NM_000718.3 9 140967949 rs777372685 A G gnomAD Exomes PASS NA p.Ile1562Val p.Ile1562Val c.4684A>G missense_variant 4 1.94150252880704e-05 0 0 0 1 0 3 0 0 CACNA1B constrhet 1562 V I 1 CACNA1B:1562:I:V ENST00000371372;NM_000718.3 9 140968016 rs772475235 C T gnomAD Exomes PASS NA p.Thr1584Ile p.Thr1584Ile c.4751C>T missense_variant 2 9.70788960187945e-06 2 0 0 0 0 0 0 0 CACNA1B constrhet 1584 I T 1 CACNA1B:1584:T:I ENST00000371372;NM_000718.3 9 140968021 rs773522880 C G gnomAD Exomes PASS NA p.Arg1586Gly p.Arg1586Gly c.4756C>G missense_variant 2 9.70779535967382e-06 0 0 0 0 2 0 0 0 CACNA1B constrhet 1586 G R 1 CACNA1B:1586:R:G ENST00000371372;NM_000718.3 9 140968501 rs747965799 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1614Thr p.Ala1614Thr c.4840G>A missense_variant 3 1.322821313297e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 1614 T A 1 CACNA1B:1614:A:T ENST00000371372;NM_000718.3 9 140970313 rs749334772 C T gnomAD Exomes PASS NA p.Arg1634Cys p.Arg1634Cys c.4900C>T missense_variant 3 1.46802638532757e-05 0 0 0 0 0 1 0 2 CACNA1B constrhet 1634 C R 1 CACNA1B:1634:R:C ENST00000371372;NM_000718.3 9 140970329 rs373622271 G A gnomAD Exomes PASS NA p.Arg1639Gln p.Arg1639Gln c.4916G>A missense_variant 2 9.80027048746545e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 1639 Q R 1 CACNA1B:1639:R:Q ENST00000371372;NM_000718.3 9 140972570 rs201482735 G A gnomAD Exomes PASS NA p.Ala1652Thr p.Ala1652Thr c.4954G>A missense_variant 5 2.43396648914938e-05 1 1 0 0 0 2 0 1 CACNA1B constrhet 1652 T A 1 CACNA1B:1652:A:T ENST00000371372;NM_000718.3 9 140972616 rs138863358 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1667Ser p.Asn1667Ser c.5000A>G missense_variant 45 0.000198002376028512 0 0 0 41 0 3 0 1 CACNA1B constrhet 1667 S N 1 CACNA1B:1667:N:S ENST00000371372;NM_000718.3 9 140972640 rs199497750 A G gnomAD Exomes PASS NA p.Asn1675Ser p.Asn1675Ser c.5024A>G missense_variant 2 9.70506313143567e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 1675 S N 1 CACNA1B:1675:N:S ENST00000371372;NM_000718.3 9 140972648 rs201516369 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1678Lys p.Glu1678Lys c.5032G>A missense_variant 5 2.19946509009009e-05 0 0 0 0 0 5 0 0 CACNA1B constrhet 1678 K E 1 CACNA1B:1678:E:K ENST00000371372;NM_000718.3 9 140972681 rs200485916 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1689Ile p.Val1689Ile c.5065G>A missense_variant 17 7.47726033181442e-05 5 0 0 0 0 10 1 1 CACNA1B constrhet 1689 I V 1 CACNA1B:1689:V:I ENST00000371372;NM_000718.3 9 140990985 rs200544664 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1715Met p.Thr1715Met c.5144C>T missense_variant 4 1.76157132161888e-05 0 0 1 0 0 2 0 1 CACNA1B constrhet 1715 M T 1 CACNA1B:1715:T:M ENST00000371372;NM_000718.3 9 140990988 rs763096124 G A gnomAD Exomes PASS NA p.Arg1716Gln p.Arg1716Gln c.5147G>A missense_variant 5 2.42930716159751e-05 0 0 0 1 0 3 0 1 CACNA1B constrhet 1716 Q R 1 CACNA1B:1716:R:Q ENST00000371372;NM_000718.3 9 140997168 rs1231982669 G A gnomAD Genomes NA PASS p.Arg1743His p.Arg1743His c.5228G>A missense_variant 2 9.43752359380898e-05 1 0 0 0 1 0 0 0 CACNA1B constrhet 1743 H R 1 CACNA1B:1743:R:H ENST00000371372;NM_000718.3 9 140997180 rs201918992 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1747Ser p.Asn1747Ser c.5240A>G missense_variant 26 0.000114875492639132 21 3 0 0 0 0 0 2 CACNA1B constrhet 1747 S N 1 CACNA1B:1747:N:S ENST00000371372;NM_000718.3 9 141000182 rs116170058 A G gnomAD Exomes PASS NA p.Asn1784Ser p.Asn1784Ser c.5351A>G missense_variant 7 4.71507476761417e-05 0 1 0 0 0 6 0 0 CACNA1B constrhet 1784 S N 1 CACNA1B:1784:N:S ENST00000371372;NM_000718.3 9 141000183 rs199695500 C A gnomAD Exomes PASS NA p.Asn1784Lys p.Asn1784Lys c.5352C>A missense_variant 2 1.34631177888175e-05 0 2 0 0 0 0 0 0 CACNA1B constrhet 1784 K N 1 CACNA1B:1784:N:K ENST00000371372;NM_000718.3 9 141000184 rs767192514 G A gnomAD Exomes PASS NA p.Glu1785Lys p.Glu1785Lys c.5353G>A missense_variant 3 2.01640005377067e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 1785 K E 1 CACNA1B:1785:E:K ENST00000371372;NM_000718.3 9 141000221 rs867452598 C A gnomAD Exomes PASS NA p.Ala1797Asp p.Ala1797Asp c.5390C>A missense_variant 2 1.35060304425926e-05 0 1 0 0 0 0 0 1 CACNA1B constrhet 1797 D A 1 CACNA1B:1797:A:D ENST00000371372;NM_000718.3 9 141006876 rs200122209 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1819Thr p.Ala1819Thr c.5455G>A missense_variant 46 0.000202389961457912 15 4 0 10 0 7 1 9 CACNA1B constrhet 1819 T A 1 CACNA1B:1819:A:T ENST00000371372;NM_000718.3 9 141006877 rs200917554 C T gnomAD Exomes PASS NA p.Ala1819Val p.Ala1819Val c.5456C>T missense_variant 11 5.33923561561387e-05 0 2 1 1 0 5 0 2 CACNA1B constrhet 1819 V A 1 CACNA1B:1819:A:V ENST00000371372;NM_000718.3 9 141006881 rs750525222 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1820Asp p.Glu1820Asp c.5460G>T missense_variant 3 1.31989968762374e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 1820 D E 1 CACNA1B:1820:E:D ENST00000371372;NM_000718.3 9 141006886 rs79634697 G A gnomAD Exomes PASS NA p.Arg1822Lys p.Arg1822Lys c.5465G>A missense_variant 3 1.45591489692123e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 1822 K R 1 CACNA1B:1822:R:K ENST00000371372;NM_000718.3 9 141006900 rs374147774 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1827Ile p.Val1827Ile c.5479G>A missense_variant 7 3.07946786795242e-05 2 1 0 0 0 3 0 1 CACNA1B constrhet 1827 I V 1 CACNA1B:1827:V:I ENST00000371372;NM_000718.3 9 141006942 rs760262263 G A gnomAD Exomes PASS NA p.Val1841Ile p.Val1841Ile c.5521G>A missense_variant 4 1.94195496606434e-05 0 3 0 0 0 0 1 0 CACNA1B constrhet 1841 I V 1 CACNA1B:1841:V:I ENST00000371372;NM_000718.3 9 141006951 rs775995727 C T gnomAD Exomes PASS NA p.His1844Tyr p.His1844Tyr c.5530C>T missense_variant 2 9.71184942748648e-06 1 1 0 0 0 0 0 0 CACNA1B constrhet 1844 Y H 1 CACNA1B:1844:H:Y ENST00000371372;NM_000718.3 9 141006952 rs759587821 A G gnomAD Exomes PASS NA p.His1844Arg p.His1844Arg c.5531A>G missense_variant 2 9.71203807118924e-06 0 1 1 0 0 0 0 0 CACNA1B constrhet 1844 R H 1 CACNA1B:1844:H:R ENST00000371372;NM_000718.3 9 141006957 rs202104778 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1846Ser p.Pro1846Ser c.5536C>T missense_variant 5 2.2013437001946e-05 0 1 0 0 0 3 0 1 CACNA1B constrhet 1846 S P 1 CACNA1B:1846:P:S ENST00000371372;NM_000718.3 9 141008848 rs769794350 G A gnomAD Exomes PASS NA p.Gly1852Glu p.Gly1852Glu c.5555G>A missense_variant 40 0.000218259597965821 0 40 0 0 0 0 0 0 CACNA1B constrhet 1852 E G 1 CACNA1B:1852:G:E ENST00000371372;NM_000718.3 9 141008853 rs148799345 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1854Ile p.Val1854Ile c.5560G>A missense_variant 77 0.000374735981467602 68 6 0 1 0 1 1 0 CACNA1B constrhet 1854 I V 1 CACNA1B:1854:V:I ENST00000371372;NM_000718.3 9 141008853 rs148799345 G T gnomAD Exomes PASS NA p.Val1854Phe p.Val1854Phe c.5560G>T missense_variant 3 1.62838160580138e-05 0 0 0 0 0 0 0 3 CACNA1B constrhet 1854 F V 1 CACNA1B:1854:V:F ENST00000371372;NM_000718.3 9 141008869 rs753971441 T C gnomAD Exomes PASS NA p.Met1859Thr p.Met1859Thr c.5576T>C missense_variant 2 1.07920268505628e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 1859 T M 1 CACNA1B:1859:M:T ENST00000371372;NM_000718.3 9 141008877 rs199901557 G A gnomAD Exomes PASS NA p.Asp1862Asn p.Asp1862Asn c.5584G>A missense_variant 5 2.69745360379801e-05 1 0 0 1 0 3 0 0 CACNA1B constrhet 1862 N D 1 CACNA1B:1862:D:N ENST00000371372;NM_000718.3 9 141008892 rs553603310 A C gnomAD Exomes PASS NA p.Asn1867His p.Asn1867His c.5599A>C missense_variant 8 4.3956043956044e-05 0 0 0 0 0 0 0 8 CACNA1B constrhet 1867 H N 1 CACNA1B:1867:N:H ENST00000371372;NM_000718.3 9 141008925 rs745417071 C T gnomAD Exomes PASS NA p.Pro1878Ser p.Pro1878Ser c.5632C>T missense_variant 40 0.000246633453361614 0 0 0 0 0 0 0 40 CACNA1B constrhet 1878 S P 1 CACNA1B:1878:P:S ENST00000371372;NM_000718.3 9 141008931 rs188868966 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1880Ser p.Gly1880Ser c.5638G>A missense_variant 16 8.84769793959234e-05 0 0 0 15 0 1 0 0 CACNA1B constrhet 1880 S G 1 CACNA1B:1880:G:S ENST00000371372;NM_000718.3 9 141010008 rs778779362 G A gnomAD Exomes PASS NA p.Gly1885Asp p.Gly1885Asp c.5654G>A missense_variant 9 4.37662299769498e-05 0 0 0 0 0 0 0 9 CACNA1B constrhet 1885 D G 1 CACNA1B:1885:G:D ENST00000371372;NM_000718.3 9 141010022 rs771702865 T C gnomAD Exomes PASS NA p.Phe1890Leu p.Phe1890Leu c.5668T>C missense_variant 2 9.71213239578882e-06 0 0 0 0 0 0 0 2 CACNA1B constrhet 1890 L F 1 CACNA1B:1890:F:L ENST00000371372;NM_000718.3 9 141010071 rs764730463 G A gnomAD Exomes PASS NA p.Arg1906Gln p.Arg1906Gln c.5717G>A missense_variant 2 9.71156647567253e-06 0 0 0 0 0 1 1 0 CACNA1B constrhet 1906 Q R 1 CACNA1B:1906:R:Q ENST00000371372;NM_000718.3 9 141010079 rs199667532 C T gnomAD Exomes PASS NA p.Arg1909Trp p.Arg1909Trp c.5725C>T missense_variant 3 1.45693305878239e-05 0 1 0 0 0 2 0 0 CACNA1B constrhet 1909 W R 1 CACNA1B:1909:R:W ENST00000371372;NM_000718.3 9 141010080 rs200511648 G A gnomAD Exomes PASS NA p.Arg1909Gln p.Arg1909Gln c.5726G>A missense_variant 3 1.45694720994609e-05 1 1 0 0 0 0 0 1 CACNA1B constrhet 1909 Q R 1 CACNA1B:1909:R:Q ENST00000371372;NM_000718.3 9 141010098 rs754416714 A G gnomAD Exomes PASS NA p.Lys1915Arg p.Lys1915Arg c.5744A>G missense_variant 4 1.94376682573159e-05 0 0 0 0 0 0 1 3 CACNA1B constrhet 1915 R K 1 CACNA1B:1915:K:R ENST00000371372;NM_000718.3 9 141010107 rs200119175 C T gnomAD Exomes PASS NA p.Thr1918Ile p.Thr1918Ile c.5753C>T missense_variant 2 9.72724796700518e-06 0 0 0 0 0 1 0 1 CACNA1B constrhet 1918 I T 1 CACNA1B:1918:T:I ENST00000371372;NM_000718.3 9 141010112 rs201220041 C T gnomAD Exomes PASS NA p.Leu1920Phe p.Leu1920Phe c.5758C>T missense_variant 2 9.73273898740584e-06 0 0 0 0 0 1 0 1 CACNA1B constrhet 1920 F L 1 CACNA1B:1920:L:F ENST00000371372;NM_000718.3 9 141010116 rs377626929 G C gnomAD Exomes PASS NA p.Ser1921Thr p.Ser1921Thr c.5762G>C missense_variant 4 1.94762827566731e-05 4 0 0 0 0 0 0 0 CACNA1B constrhet 1921 T S 1 CACNA1B:1921:S:T ENST00000371372;NM_000718.3 9 141010124 rs768799057 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1924Arg p.Gly1924Arg c.5770G>A missense_variant 2 8.84415710760686e-06 1 0 0 0 0 0 0 1 CACNA1B constrhet 1924 R G 1 CACNA1B:1924:G:R ENST00000371372;NM_000718.3 9 141012423 rs377467706 G A gnomAD Exomes PASS NA p.Glu1935Lys p.Glu1935Lys c.5803G>A missense_variant 6 3.06576056409994e-05 0 0 5 0 0 1 0 0 CACNA1B constrhet 1935 K E 1 CACNA1B:1935:E:K ENST00000371372;NM_000718.3 9 141012437 rs773701331 G C gnomAD Exomes PASS NA p.Trp1939Cys p.Trp1939Cys c.5817G>C missense_variant 2 1.02338433198588e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 1939 C W 1 CACNA1B:1939:W:C ENST00000371372;NM_000718.3 9 141012438 rs200316245 G A gnomAD Exomes PASS NA p.Gly1940Ser p.Gly1940Ser c.5818G>A missense_variant 2 1.02456916866458e-05 2 0 0 0 0 0 0 0 CACNA1B constrhet 1940 S G 1 CACNA1B:1940:G:S ENST00000371372;NM_000718.3 9 141012451 rs766783256 C T gnomAD Exomes PASS NA p.Thr1944Ile p.Thr1944Ile c.5831C>T missense_variant 2 1.01517689457388e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 1944 I T 1 CACNA1B:1944:T:I ENST00000371372;NM_000718.3 9 141012465 rs764852367 C T gnomAD Exomes PASS NA p.His1949Tyr p.His1949Tyr c.5845C>T missense_variant 2 1.01643576634175e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 1949 Y H 1 CACNA1B:1949:H:Y ENST00000371372;NM_000718.3 9 141012475 rs997657520 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1952Met p.Arg1952Met c.5855G>T missense_variant 4 1.84292730573243e-05 0 0 0 0 0 4 0 0 CACNA1B constrhet 1952 M R 1 CACNA1B:1952:R:M ENST00000371372;NM_000718.3 9 141012478 rs199770929 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1953Leu p.Pro1953Leu c.5858C>T missense_variant 5 2.30086052183517e-05 0 0 1 0 0 4 0 0 CACNA1B constrhet 1953 L P 1 CACNA1B:1953:P:L ENST00000371372;NM_000718.3 9 141012483 rs781201314 C G gnomAD Exomes PASS NA p.Leu1955Val p.Leu1955Val c.5863C>G missense_variant 3 1.53097155454852e-05 0 0 0 0 0 0 0 3 CACNA1B constrhet 1955 V L 1 CACNA1B:1955:L:V ENST00000371372;NM_000718.3 9 141012489 rs200598077 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1957Cys p.Arg1957Cys c.5869C>T missense_variant 71 0.00032811431317818 1 4 0 0 3 61 0 2 CACNA1B constrhet 1957 C R 1 CACNA1B:1957:R:C ENST00000371372;NM_000718.3 9 141012490 rs772128935 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1957His p.Arg1957His c.5870G>A missense_variant 9 4.14891851524036e-05 0 0 0 1 0 7 0 1 CACNA1B constrhet 1957 H R 1 CACNA1B:1957:R:H ENST00000371372;NM_000718.3 9 141012509 rs200850141 C G gnomAD Exomes PASS NA p.Ile1963Met p.Ile1963Met c.5889C>G missense_variant 5 2.57692109467608e-05 0 0 0 0 0 0 0 5 CACNA1B constrhet 1963 M I 1 CACNA1B:1963:I:M ENST00000371372;NM_000718.3 9 141012519 rs777033250 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1967Trp p.Arg1967Trp c.5899C>T missense_variant 5 2.37540975818329e-05 0 0 0 1 0 3 0 1 CACNA1B constrhet 1967 W R 1 CACNA1B:1967:R:W ENST00000371372;NM_000718.3 9 141012520 rs202026908 G A gnomAD Exomes PASS NA p.Arg1967Gln p.Arg1967Gln c.5900G>A missense_variant 5 2.60354290117993e-05 0 0 0 1 0 3 0 1 CACNA1B constrhet 1967 Q R 1 CACNA1B:1967:R:Q ENST00000371372;NM_000718.3 9 141012529 rs375440327 C T gnomAD Exomes PASS NA p.Ala1970Val p.Ala1970Val c.5909C>T missense_variant 2 1.0626540848423e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 1970 V A 1 CACNA1B:1970:A:V ENST00000371372;NM_000718.3 9 141013123 rs760512364 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1978Arg p.Gln1978Arg c.5933A>G missense_variant 3 1.72653920970545e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 1978 R Q 1 CACNA1B:1978:Q:R ENST00000371372;NM_000718.3 9 141013135 rs200719516 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1982Gln p.Arg1982Gln c.5945G>A missense_variant 19 0.00010988248357546 1 0 0 1 1 2 0 14 CACNA1B constrhet 1982 Q R 1 CACNA1B:1982:R:Q ENST00000371372;NM_000718.3 9 141013143 rs1471014095 C T gnomAD Exomes PASS NA p.Pro1985Ser p.Pro1985Ser c.5953C>T missense_variant 2 1.33502436419465e-05 0 0 0 2 0 0 0 0 CACNA1B constrhet 1985 S P 1 CACNA1B:1985:P:S ENST00000371372;NM_000718.3 9 141013155 rs199740482 C A gnomAD Exomes PASS NA p.Pro1989Thr p.Pro1989Thr c.5965C>A missense_variant 12 8.19381094146888e-05 0 0 0 0 0 0 0 12 CACNA1B constrhet 1989 T P 1 CACNA1B:1989:P:T ENST00000371372;NM_000718.3 9 141013155 rs199740482 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1989Ala p.Pro1989Ala c.5965C>G missense_variant 27 0.000161061334542288 0 1 2 0 0 24 0 0 CACNA1B constrhet 1989 A P 1 CACNA1B:1989:P:A ENST00000371372;NM_000718.3 9 141013159 rs749594737 A T gnomAD Exomes PASS NA p.Gln1990Leu p.Gln1990Leu c.5969A>T missense_variant 3 2.0633872565203e-05 0 0 0 3 0 0 0 0 CACNA1B constrhet 1990 L Q 1 CACNA1B:1990:Q:L ENST00000371372;NM_000718.3 9 141013177 rs534180691 A G gnomAD Exomes PASS NA p.Gln1996Arg p.Gln1996Arg c.5987A>G missense_variant 2 1.46361454247409e-05 0 1 0 0 0 0 0 1 CACNA1B constrhet 1996 R Q 1 CACNA1B:1996:Q:R ENST00000371372;NM_000718.3 9 141013207 rs202011106 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2006Val p.Ala2006Val c.6017C>T missense_variant 49 0.000350050007143878 0 1 0 43 1 1 1 2 CACNA1B constrhet 2006 V A 1 CACNA1B:2006:A:V ENST00000371372;NM_000718.3 9 141013212 rs201120810 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2008Lys p.Glu2008Lys c.6022G>A missense_variant 52 0.0003719493004492 46 4 0 0 0 2 0 0 CACNA1B constrhet 2008 K E 1 CACNA1B:2008:E:K ENST00000371372;NM_000718.3 9 141013215 rs201936500 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2009Ser p.Thr2009Ser c.6025A>T missense_variant 733 0.00532502252055909 0 0 0 0 0 1 7 725 CACNA1B constrhet 2009 S T 1 CACNA1B:2009:T:S ENST00000371372;NM_000718.3 9 141014620 rs200800510 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2012Ile p.Val2012Ile c.6034G>A missense_variant 10 4.80968092576738e-05 0 1 0 0 0 6 0 3 CACNA1B constrhet 2012 I V 1 CACNA1B:2012:V:I ENST00000371372;NM_000718.3 9 141014634 rs550009360 C A gnomAD Exomes PASS NA p.Ser2016Arg p.Ser2016Arg c.6048C>A missense_variant 7 3.63477755161384e-05 0 5 1 0 0 1 0 0 CACNA1B constrhet 2016 R S 1 CACNA1B:2016:S:R ENST00000371372;NM_000718.3 9 141014636 rs755536551 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2017Leu p.Pro2017Leu c.6050C>T missense_variant 13 6.069887753768e-05 0 0 0 13 0 0 0 0 CACNA1B constrhet 2017 L P 1 CACNA1B:2017:P:L ENST00000371372;NM_000718.3 9 141014645 rs779456545 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2020His p.Arg2020His c.6059G>A missense_variant 4 1.85480580183255e-05 0 0 0 0 0 4 0 0 CACNA1B constrhet 2020 H R 1 CACNA1B:2020:R:H ENST00000371372;NM_000718.3 9 141014668 rs777530915 C T gnomAD Exomes PASS NA p.Arg2028Trp p.Arg2028Trp c.6082C>T missense_variant 2 1.02498923761301e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 2028 W R 1 CACNA1B:2028:R:W ENST00000371372;NM_000718.3 9 141014669 rs549039968 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2028Gln p.Arg2028Gln c.6083G>A missense_variant 16 7.38545619039706e-05 1 1 0 13 0 1 0 0 CACNA1B constrhet 2028 Q R 1 CACNA1B:2028:R:Q ENST00000371372;NM_000718.3 9 141014674 rs200157606 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2030Gly p.Arg2030Gly c.6088C>G missense_variant 3 1.38478581979321e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 2030 G R 1 CACNA1B:2030:R:G ENST00000371372;NM_000718.3 9 141014674 rs200157606 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2030Cys p.Arg2030Cys c.6088C>T missense_variant 11 5.07754800590842e-05 0 7 0 1 0 2 0 1 CACNA1B constrhet 2030 C R 1 CACNA1B:2030:R:C ENST00000371372;NM_000718.3 9 141014675 rs200721739 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2030His p.Arg2030His c.6089G>A missense_variant 10 4.6166346579997e-05 0 3 0 3 0 3 0 1 CACNA1B constrhet 2030 H R 1 CACNA1B:2030:R:H ENST00000371372;NM_000718.3 9 141014681 rs201940970 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2032Ser p.Thr2032Ser c.6095C>G missense_variant 78 0.000360650280197525 74 2 0 0 0 1 1 0 CACNA1B constrhet 2032 S T 1 CACNA1B:2032:T:S ENST00000371372;NM_000718.3 9 141014702 rs199894458 C T gnomAD Exomes PASS NA p.Pro2039Leu p.Pro2039Leu c.6116C>T missense_variant 15 8.0042689434365e-05 1 6 0 3 0 5 0 0 CACNA1B constrhet 2039 L P 1 CACNA1B:2039:P:L ENST00000371372;NM_000718.3 9 141014707 rs201015728 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2041Cys p.Arg2041Cys c.6121C>T missense_variant 24 0.000116683845121643 6 5 6 1 0 6 0 0 CACNA1B constrhet 2041 C R 1 CACNA1B:2041:R:C ENST00000371372;NM_000718.3 9 141014708 rs34871465 G A gnomAD Exomes PASS NA p.Arg2041His p.Arg2041His c.6122G>A missense_variant 4 2.17542638357118e-05 0 2 0 0 0 0 0 2 CACNA1B constrhet 2041 H R 1 CACNA1B:2041:R:H ENST00000371372;NM_000718.3 9 141014720 rs753140855 G A gnomAD Exomes PASS NA p.Ser2045Asn p.Ser2045Asn c.6134G>A missense_variant 8 4.5583006655119e-05 0 7 0 0 0 1 0 0 CACNA1B constrhet 2045 N S 1 CACNA1B:2045:S:N ENST00000371372;NM_000718.3 9 141014720 rs753140855 G C gnomAD Exomes PASS NA p.Ser2045Thr p.Ser2045Thr c.6134G>C missense_variant 5 2.84893791594494e-05 0 0 0 0 0 0 0 5 CACNA1B constrhet 2045 T S 1 CACNA1B:2045:S:T ENST00000371372;NM_000718.3 9 141014726 rs777497745 C T gnomAD Exomes PASS NA p.Ala2047Val p.Ala2047Val c.6140C>T missense_variant 8 4.82538150672538e-05 0 3 0 0 0 0 1 4 CACNA1B constrhet 2047 V A 1 CACNA1B:2047:A:V ENST00000371372;NM_000718.3 9 141014728 rs1265065928 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2048Ala p.Ser2048Ala c.6142T>G missense_variant 3 1.61253910407327e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 2048 A S 1 CACNA1B:2048:S:A ENST00000371372;NM_000718.3 9 141014729 rs751233267 C T gnomAD Exomes PASS NA p.Ser2048Leu p.Ser2048Leu c.6143C>T missense_variant 3 1.84613112454001e-05 0 0 0 1 0 2 0 0 CACNA1B constrhet 2048 L S 1 CACNA1B:2048:S:L ENST00000371372;NM_000718.3 9 141014732 rs745360862 C T gnomAD Exomes PASS NA p.Ser2049Leu p.Ser2049Leu c.6146C>T missense_variant 2 1.25258345337258e-05 0 0 0 0 0 1 0 1 CACNA1B constrhet 2049 L S 1 CACNA1B:2049:S:L ENST00000371372;NM_000718.3 9 141014746 rs769748260 C T gnomAD Exomes PASS NA p.His2054Tyr p.His2054Tyr c.6160C>T missense_variant 2 1.43313699356521e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 2054 Y H 1 CACNA1B:2054:H:Y ENST00000371372;NM_000718.3 9 141014749 rs768496399 C T gnomAD Exomes PASS NA p.Arg2055Cys p.Arg2055Cys c.6163C>T missense_variant 3 2.12983472482535e-05 0 1 0 0 0 1 0 1 CACNA1B constrhet 2055 C R 1 CACNA1B:2055:R:C ENST00000371372;NM_000718.3 9 141014750 rs369758510 G A gnomAD Exomes PASS NA p.Arg2055His p.Arg2055His c.6164G>A missense_variant 2 1.41352745777087e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 2055 H R 1 CACNA1B:2055:R:H ENST00000371372;NM_000718.3 9 141014759 rs201114958 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2058His p.Arg2058His c.6173G>A missense_variant 25 0.000149677295750362 1 0 0 1 0 18 0 5 CACNA1B constrhet 2058 H R 1 CACNA1B:2058:R:H ENST00000371372;NM_000718.3 9 141014761 rs202190108 C T gnomAD Exomes PASS NA p.Arg2059Cys p.Arg2059Cys c.6175C>T missense_variant 3 2.05198358413133e-05 0 0 0 1 0 1 1 0 CACNA1B constrhet 2059 C R 1 CACNA1B:2059:R:C ENST00000371372;NM_000718.3 9 141014762 rs537248181 G A gnomAD Exomes PASS NA p.Arg2059His p.Arg2059His c.6176G>A missense_variant 16 0.000110215609285665 0 0 0 0 0 1 0 15 CACNA1B constrhet 2059 H R 1 CACNA1B:2059:R:H ENST00000371372;NM_000718.3 9 141014765 rs557627895 G A gnomAD Exomes PASS NA p.Arg2060Lys p.Arg2060Lys c.6179G>A missense_variant 34 0.000232691833885406 0 0 0 0 0 0 0 34 CACNA1B constrhet 2060 K R 1 CACNA1B:2060:R:K ENST00000371372;NM_000718.3 9 141014812 rs200335318 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp2076Asn p.Asp2076Asn c.6226G>A missense_variant 23 0.000147220728678598 0 1 0 14 0 5 1 2 CACNA1B constrhet 2076 N D 1 CACNA1B:2076:D:N ENST00000371372;NM_000718.3 9 141014816 rs201487636 T C gnomAD Exomes PASS NA p.Met2077Thr p.Met2077Thr c.6230T>C missense_variant 10 7.51021389089161e-05 0 0 0 0 0 0 0 10 CACNA1B constrhet 2077 T M 1 CACNA1B:2077:M:T ENST00000371372;NM_000718.3 9 141015088 rs548980433 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2082Arg p.Ser2082Arg c.6244A>C missense_variant 14 0.000120731286650569 0 0 0 14 0 0 0 0 CACNA1B constrhet 2082 R S 1 CACNA1B:2082:S:R ENST00000371372;NM_000718.3 9 141015092 rs753323084 G A gnomAD Exomes PASS NA p.Ser2083Asn p.Ser2083Asn c.6248G>A missense_variant 7 7.39067086175222e-05 0 2 0 0 1 4 0 0 CACNA1B constrhet 2083 N S 1 CACNA1B:2083:S:N ENST00000371372;NM_000718.3 9 141015097 rs754890041 G A gnomAD Exomes PASS NA p.Val2085Met p.Val2085Met c.6253G>A missense_variant 3 3.17588024814211e-05 0 3 0 0 0 0 0 0 CACNA1B constrhet 2085 M V 1 CACNA1B:2085:V:M ENST00000371372;NM_000718.3 9 141015104 rs200308291 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2087Leu p.Pro2087Leu c.6260C>T missense_variant 23 0.000199417354512034 0 12 0 1 0 8 1 1 CACNA1B constrhet 2087 L P 1 CACNA1B:2087:P:L ENST00000371372;NM_000718.3 9 141015116 rs746163681 C G gnomAD Exomes PASS NA p.Pro2091Arg p.Pro2091Arg c.6272C>G missense_variant 2 2.0566398617938e-05 0 1 0 0 0 1 0 0 CACNA1B constrhet 2091 R P 1 CACNA1B:2091:P:R ENST00000371372;NM_000718.3 9 141015116 rs746163681 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2091Leu p.Pro2091Leu c.6272C>T missense_variant 2 1.68830511049957e-05 0 0 0 1 0 0 0 1 CACNA1B constrhet 2091 L P 1 CACNA1B:2091:P:L ENST00000371372;NM_000718.3 9 141015131 rs562435147 C G gnomAD Exomes PASS NA p.Thr2096Arg p.Thr2096Arg c.6287C>G missense_variant 10 9.9304865938431e-05 0 0 0 0 0 0 0 10 CACNA1B constrhet 2096 R T 1 CACNA1B:2096:T:R ENST00000371372;NM_000718.3 9 141015131 rs562435147 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2096Ile p.Thr2096Ile c.6287C>T missense_variant 21 0.000172252571484817 0 0 0 0 0 0 3 18 CACNA1B constrhet 2096 I T 1 CACNA1B:2096:T:I ENST00000371372;NM_000718.3 9 141015139 rs200428875 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2099Trp p.Arg2099Trp c.6295C>T missense_variant 24 0.000199677188545185 0 1 0 0 0 22 0 1 CACNA1B constrhet 2099 W R 1 CACNA1B:2099:R:W ENST00000371372;NM_000718.3 9 141015142 rs537640912 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2100Trp p.Arg2100Trp c.6298C>T missense_variant 11 9.07680628445061e-05 0 2 0 0 0 3 0 6 CACNA1B constrhet 2100 W R 1 CACNA1B:2100:R:W ENST00000371372;NM_000718.3 9 141015143 rs760369506 G A gnomAD Exomes PASS NA p.Arg2100Gln p.Arg2100Gln c.6299G>A missense_variant 4 3.98581051456814e-05 2 1 0 0 0 1 0 0 CACNA1B constrhet 2100 Q R 1 CACNA1B:2100:R:Q ENST00000371372;NM_000718.3 9 141015146 rs753374023 A C gnomAD Exomes PASS NA p.Glu2101Ala p.Glu2101Ala c.6302A>C missense_variant 3 2.97394821364844e-05 0 0 0 0 2 1 0 0 CACNA1B constrhet 2101 A E 1 CACNA1B:2101:E:A ENST00000371372;NM_000718.3 9 141015155 rs752741268 G A gnomAD Exomes PASS NA p.Arg2104His p.Arg2104His c.6311G>A missense_variant 4 3.86443559918074e-05 0 4 0 0 0 0 0 0 CACNA1B constrhet 2104 H R 1 CACNA1B:2104:R:H ENST00000371372;NM_000718.3 9 141015157 rs199622179 C T gnomAD Exomes PASS NA p.Arg2105Trp p.Arg2105Trp c.6313C>T missense_variant 2 1.93244183350081e-05 0 2 0 0 0 0 0 0 CACNA1B constrhet 2105 W R 1 CACNA1B:2105:R:W ENST00000371372;NM_000718.3 9 141015158 rs1013828895 G A gnomAD Exomes PASS NA p.Arg2105Gln p.Arg2105Gln c.6314G>A missense_variant 6 5.77945596054558e-05 0 3 0 0 0 2 0 1 CACNA1B constrhet 2105 Q R 1 CACNA1B:2105:R:Q ENST00000371372;NM_000718.3 9 141015165 rs1222516050 G T gnomAD Exomes PASS NA p.Glu2107Asp p.Glu2107Asp c.6321G>T missense_variant 2 1.78993341447698e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 2107 D E 1 CACNA1B:2107:E:D ENST00000371372;NM_000718.3 9 141015166 rs777754000 C T gnomAD Exomes PASS NA p.Arg2108Trp p.Arg2108Trp c.6322C>T missense_variant 3 2.70119392771605e-05 0 1 0 0 1 1 0 0 CACNA1B constrhet 2108 W R 1 CACNA1B:2108:R:W ENST00000371372;NM_000718.3 9 141015172 rs201469673 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2110Trp p.Arg2110Trp c.6328C>T missense_variant 8 5.92346878331951e-05 0 0 0 0 0 7 1 0 CACNA1B constrhet 2110 W R 1 CACNA1B:2110:R:W ENST00000371372;NM_000718.3 9 141015183 rs1490106740 G T gnomAD Exomes PASS NA p.Glu2113Asp p.Glu2113Asp c.6339G>T missense_variant 2 1.66636116711936e-05 0 0 0 0 0 0 0 2 CACNA1B constrhet 2113 D E 1 CACNA1B:2113:E:D ENST00000371372;NM_000718.3 9 141015209 rs536518993 C T gnomAD Exomes PASS NA p.Ser2122Leu p.Ser2122Leu c.6365C>T missense_variant 6 4.67836257309942e-05 0 2 0 1 0 1 0 2 CACNA1B constrhet 2122 L S 1 CACNA1B:2122:S:L ENST00000371372;NM_000718.3 9 141015238 rs952939628 C T gnomAD Exomes PASS NA p.Arg2132Cys p.Arg2132Cys c.6394C>T missense_variant 3 2.26230694980695e-05 0 2 0 0 0 1 0 0 CACNA1B constrhet 2132 C R 1 CACNA1B:2132:R:C ENST00000371372;NM_000718.3 9 141015245 rs199777163 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2134Val p.Gly2134Val c.6401G>T missense_variant 6 3.84862091084028e-05 1 0 0 0 0 4 1 0 CACNA1B constrhet 2134 V G 1 CACNA1B:2134:G:V ENST00000371372;NM_000718.3 9 141015251 rs200667970 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2136His p.Arg2136His c.6407G>A missense_variant 6 3.82345819048469e-05 0 0 0 0 0 6 0 0 CACNA1B constrhet 2136 H R 1 CACNA1B:2136:R:H ENST00000371372;NM_000718.3 9 141015253 rs545077051 G A gnomAD Exomes PASS NA p.Glu2137Lys p.Glu2137Lys c.6409G>A missense_variant 3 2.1914446002805e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 2137 K E 1 CACNA1B:2137:E:K ENST00000371372;NM_000718.3 9 141015260 rs752121300 C T gnomAD Exomes PASS NA p.Pro2139Leu p.Pro2139Leu c.6416C>T missense_variant 8 5.71355111485666e-05 0 1 1 0 0 1 4 1 CACNA1B constrhet 2139 L P 1 CACNA1B:2139:P:L ENST00000371372;NM_000718.3 9 141015271 rs200606137 C T gnomAD Exomes PASS NA p.Pro2143Ser p.Pro2143Ser c.6427C>T missense_variant 3 2.06222417751626e-05 0 0 0 0 0 0 0 3 CACNA1B constrhet 2143 S P 1 CACNA1B:2143:P:S ENST00000371372;NM_000718.3 9 141015292 rs377110062 A G gnomAD Exomes PASS NA p.Thr2150Ala p.Thr2150Ala c.6448A>G missense_variant 2 1.32553916305457e-05 0 0 0 0 0 1 1 0 CACNA1B constrhet 2150 A T 1 CACNA1B:2150:T:A ENST00000371372;NM_000718.3 9 141015293 rs200951619 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2150Met p.Thr2150Met c.6449C>T missense_variant 72 0.000416888621256688 0 26 28 0 0 11 6 1 CACNA1B constrhet 2150 M T 1 CACNA1B:2150:T:M ENST00000371372;NM_000718.3 9 141015296 rs200034261 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2151Leu p.Ser2151Leu c.6452C>T missense_variant 42 0.000243356935093229 0 2 0 0 0 38 2 0 CACNA1B constrhet 2151 L S 1 CACNA1B:2151:S:L ENST00000371372;NM_000718.3 9 141015328 rs769313388 C T gnomAD Exomes PASS NA p.Pro2162Ser p.Pro2162Ser c.6484C>T missense_variant 4 2.75801202493243e-05 0 0 4 0 0 0 0 0 CACNA1B constrhet 2162 S P 1 CACNA1B:2162:P:S ENST00000371372;NM_000718.3 9 141015921 rs368727425 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2164Arg p.Gly2164Arg c.6490G>C missense_variant 3 1.86502213159596e-05 3 0 0 0 0 0 0 0 CACNA1B constrhet 2164 R G 1 CACNA1B:2164:G:R ENST00000371372;NM_000718.3 9 141015922 rs199859808 G T gnomAD Exomes PASS NA p.Gly2164Val p.Gly2164Val c.6491G>T missense_variant 2 1.41476734151069e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 2164 V G 1 CACNA1B:2164:G:V ENST00000371372;NM_000718.3 9 141015937 rs773087614 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn2169Ile p.Asn2169Ile c.6506A>T missense_variant 2 1.18577543784758e-05 0 0 0 2 0 0 0 0 CACNA1B constrhet 2169 I N 1 CACNA1B:2169:N:I ENST00000371372;NM_000718.3 9 141015949 rs765508846 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu2173Trp p.Leu2173Trp c.6518T>G missense_variant 16 8.80669308674593e-05 0 13 0 0 0 0 3 0 CACNA1B constrhet 2173 W L 1 CACNA1B:2173:L:W ENST00000371372;NM_000718.3 9 141015975 rs200435656 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2182Thr p.Pro2182Thr c.6544C>A missense_variant 13 6.53148174199642e-05 0 0 0 0 6 6 1 0 CACNA1B constrhet 2182 T P 1 CACNA1B:2182:P:T ENST00000371372;NM_000718.3 9 141015978 rs372031598 G A gnomAD Exomes PASS NA p.Gly2183Ser p.Gly2183Ser c.6547G>A missense_variant 4 2.22353163529634e-05 1 3 0 0 0 0 0 0 CACNA1B constrhet 2183 S G 1 CACNA1B:2183:G:S ENST00000371372;NM_000718.3 9 141015981 rs201646477 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2184Cys p.Arg2184Cys c.6550C>T missense_variant 7 3.45215315724064e-05 6 0 0 0 0 0 0 1 CACNA1B constrhet 2184 C R 1 CACNA1B:2184:R:C ENST00000371372;NM_000718.3 9 141015982 rs756380021 G A gnomAD Exomes PASS NA p.Arg2184His p.Arg2184His c.6551G>A missense_variant 7 3.81558721887298e-05 0 4 0 0 0 1 0 2 CACNA1B constrhet 2184 H R 1 CACNA1B:2184:R:H ENST00000371372;NM_000718.3 9 141015984 rs538992240 G A gnomAD Exomes PASS NA p.Gly2185Ser p.Gly2185Ser c.6553G>A missense_variant 9 4.88233570940338e-05 0 4 0 2 0 2 0 1 CACNA1B constrhet 2185 S G 1 CACNA1B:2185:G:S ENST00000371372;NM_000718.3 9 141015991 rs774017061 G A gnomAD Exomes PASS NA p.Arg2187Gln p.Arg2187Gln c.6560G>A missense_variant 5 2.63363040684323e-05 0 0 0 0 0 4 1 0 CACNA1B constrhet 2187 Q R 1 CACNA1B:2187:R:Q ENST00000371372;NM_000718.3 9 141016003 rs201164368 C T gnomAD Exomes PASS NA p.Pro2191Leu p.Pro2191Leu c.6572C>T missense_variant 6 3.04596359058188e-05 0 0 0 0 0 6 0 0 CACNA1B constrhet 2191 L P 1 CACNA1B:2191:P:L ENST00000371372;NM_000718.3 9 141016009 rs772964775 C T gnomAD Exomes PASS NA p.Thr2193Met p.Thr2193Met c.6578C>T missense_variant 2 1.0086135598007e-05 0 0 0 0 0 2 0 0 CACNA1B constrhet 2193 M T 1 CACNA1B:2193:T:M ENST00000371372;NM_000718.3 9 141016024 rs200649042 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2198His p.Arg2198His c.6593G>A missense_variant 16 7.18236012353659e-05 2 3 0 1 0 10 0 0 CACNA1B constrhet 2198 H R 1 CACNA1B:2198:R:H ENST00000371372;NM_000718.3 9 141016041 rs371737245 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys2204Glu p.Lys2204Glu c.6610A>G missense_variant 3 1.33573171383284e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 2204 E K 1 CACNA1B:2204:K:E ENST00000371372;NM_000718.3 9 141016045 rs376649735 C T gnomAD Exomes PASS NA p.Thr2205Met p.Thr2205Met c.6614C>T missense_variant 3 1.4733471500555e-05 0 1 0 0 0 1 0 1 CACNA1B constrhet 2205 M T 1 CACNA1B:2205:T:M ENST00000371372;NM_000718.3 9 141016071 rs754203811 G A gnomAD Exomes PASS NA p.Ala2214Thr p.Ala2214Thr c.6640G>A missense_variant 2 9.78109900428412e-06 0 0 0 0 0 1 0 1 CACNA1B constrhet 2214 T A 1 CACNA1B:2214:A:T ENST00000371372;NM_000718.3 9 141016074 rs112641839 G A gnomAD Exomes PASS NA p.Gly2215Arg p.Gly2215Arg c.6643G>A missense_variant 5 2.44441402506991e-05 3 1 0 0 0 1 0 0 CACNA1B constrhet 2215 R G 1 CACNA1B:2215:G:R ENST00000371372;NM_000718.3 9 141016093 rs1230349677 C T gnomAD Exomes PASS NA p.Pro2221Leu p.Pro2221Leu c.6662C>T missense_variant 2 9.75181627578136e-06 0 0 0 0 0 0 0 2 CACNA1B constrhet 2221 L P 1 CACNA1B:2221:P:L ENST00000371372;NM_000718.3 9 141016110 rs375535768 C T gnomAD Exomes PASS NA p.Arg2227Trp p.Arg2227Trp c.6679C>T missense_variant 4 1.94929873977836e-05 0 3 0 0 0 1 0 0 CACNA1B constrhet 2227 W R 1 CACNA1B:2227:R:W ENST00000371372;NM_000718.3 9 141016113 rs1261963493 C A gnomAD Exomes PASS NA p.Leu2228Ile p.Leu2228Ile c.6682C>A missense_variant 2 9.74127182044888e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 2228 I L 1 CACNA1B:2228:L:I ENST00000371372;NM_000718.3 9 141016119 rs200033716 C T gnomAD Exomes PASS NA p.Arg2230Cys p.Arg2230Cys c.6688C>T missense_variant 4 1.94732486247018e-05 0 0 0 0 0 2 0 2 CACNA1B constrhet 2230 C R 1 CACNA1B:2230:R:C ENST00000371372;NM_000718.3 9 141016131 rs202111201 G A gnomAD Exomes PASS NA p.Glu2234Lys p.Glu2234Lys c.6700G>A missense_variant 2 9.73425484279178e-06 0 0 0 1 0 0 0 1 CACNA1B constrhet 2234 K E 1 CACNA1B:2234:E:K ENST00000371372;NM_000718.3 9 141016140 rs77641565 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2237Thr p.Ala2237Thr c.6709G>A missense_variant 42 0.000185325732036642 6 4 0 0 1 30 0 1 CACNA1B constrhet 2237 T A 1 CACNA1B:2237:A:T ENST00000371372;NM_000718.3 9 141016155 rs79400016 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp2242His p.Asp2242His c.6724G>C missense_variant 161 0.000710615984887272 3 5 16 0 5 130 2 0 CACNA1B constrhet 2242 H D 1 CACNA1B:2242:D:H ENST00000371372;NM_000718.3 9 141016168 rs765988912 A T gnomAD Exomes PASS NA p.Gln2246Leu p.Gln2246Leu c.6737A>T missense_variant 3 1.46089192321552e-05 0 3 0 0 0 0 0 0 CACNA1B constrhet 2246 L Q 1 CACNA1B:2246:Q:L ENST00000371372;NM_000718.3 9 141016169 rs200222038 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln2246His p.Gln2246His c.6738G>C missense_variant 123 0.000543276620554407 0 5 0 100 0 3 0 15 CACNA1B constrhet 2246 H Q 1 CACNA1B:2246:Q:H ENST00000371372;NM_000718.3 9 141016179 rs201272232 C T gnomAD Exomes PASS NA p.Pro2250Ser p.Pro2250Ser c.6748C>T missense_variant 3 1.46090615138883e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 2250 S P 1 CACNA1B:2250:P:S ENST00000371372;NM_000718.3 9 141016180 rs202102427 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2250Leu p.Pro2250Leu c.6749C>T missense_variant 24 0.000105917243327214 0 1 0 0 0 21 0 2 CACNA1B constrhet 2250 L P 1 CACNA1B:2250:P:L ENST00000371372;NM_000718.3 9 141016189 rs1232097200 G A gnomAD Exomes PASS NA p.Arg2253Gln p.Arg2253Gln c.6758G>A missense_variant 2 9.73994350832765e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 2253 Q R 1 CACNA1B:2253:R:Q ENST00000371372;NM_000718.3 9 141016218 rs769638780 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2263Cys p.Arg2263Cys c.6787C>T missense_variant 4 1.76421294050192e-05 0 1 0 0 0 3 0 0 CACNA1B constrhet 2263 C R 1 CACNA1B:2263:R:C ENST00000371372;NM_000718.3 9 141016219 rs775263564 G A gnomAD Exomes PASS NA p.Arg2263His p.Arg2263His c.6788G>A missense_variant 3 1.45964092833163e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 2263 H R 1 CACNA1B:2263:R:H ENST00000371372;NM_000718.3 9 141016258 rs754453337 A G gnomAD Exomes PASS NA p.Asp2276Gly p.Asp2276Gly c.6827A>G missense_variant 3 1.45772594752187e-05 0 0 0 0 0 2 1 0 CACNA1B constrhet 2276 G D 1 CACNA1B:2276:D:G ENST00000371372;NM_000718.3 9 141016261 rs760115118 C T gnomAD Exomes PASS NA p.Thr2277Ile p.Thr2277Ile c.6830C>T missense_variant 34 0.000165204124272373 1 13 0 1 0 18 0 1 CACNA1B constrhet 2277 I T 1 CACNA1B:2277:T:I ENST00000371372;NM_000718.3 9 141016263 rs758010481 C A gnomAD Exomes PASS NA p.Leu2278Ile p.Leu2278Ile c.6832C>A missense_variant 38 0.000184656053802943 0 38 0 0 0 0 0 0 CACNA1B constrhet 2278 I L 1 CACNA1B:2278:L:I ENST00000371372;NM_000718.3 9 141016270 rs573013833 T A gnomAD Exomes PASS NA p.Phe2280Tyr p.Phe2280Tyr c.6839T>A missense_variant 5 2.42989745832726e-05 5 0 0 0 0 0 0 0 CACNA1B constrhet 2280 Y F 1 CACNA1B:2280:F:Y ENST00000371372;NM_000718.3 9 141016270 rs573013833 T G gnomAD Exomes PASS NA p.Phe2280Cys p.Phe2280Cys c.6839T>G missense_variant 6 2.91587694999271e-05 0 6 0 0 0 0 0 0 CACNA1B constrhet 2280 C F 1 CACNA1B:2280:F:C ENST00000371372;NM_000718.3 9 141016299 rs188712112 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2290Cys p.Arg2290Cys c.6868C>T missense_variant 12 5.28494671012067e-05 0 3 0 0 0 9 0 0 CACNA1B constrhet 2290 C R 1 CACNA1B:2290:R:C ENST00000371372;NM_000718.3 9 141016300 rs76756995 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2290His p.Arg2290His c.6869G>A missense_variant 9 3.96444334810456e-05 0 5 1 0 0 0 0 3 CACNA1B constrhet 2290 H R 1 CACNA1B:2290:R:H ENST00000371372;NM_000718.3 9 141016312 rs747181622 C G gnomAD Exomes PASS NA p.Thr2294Ser p.Thr2294Ser c.6881C>G missense_variant 3 1.4575418071575e-05 0 0 0 3 0 0 0 0 CACNA1B constrhet 2294 S T 1 CACNA1B:2294:T:S ENST00000371372;NM_000718.3 9 141016320 rs41290003 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2297Met p.Val2297Met c.6889G>A missense_variant 397 0.00174936106459857 3 13 0 0 43 194 7 137 CACNA1B constrhet 2297 M V 1 CACNA1B:2297:V:M ENST00000371372;NM_000718.3 9 141016320 rs41290003 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2297Leu p.Val2297Leu c.6889G>T missense_variant 2 8.8129020886578e-06 0 0 0 2 0 0 0 0 CACNA1B constrhet 2297 L V 1 CACNA1B:2297:V:L ENST00000371372;NM_000718.3 9 141016353 rs200556692 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2308Cys p.Arg2308Cys c.6922C>T missense_variant 16 7.08096194868073e-05 1 0 0 0 0 13 1 1 CACNA1B constrhet 2308 C R 1 CACNA1B:2308:R:C ENST00000371372;NM_000718.3 9 141016354 rs201927774 G A gnomAD Exomes PASS NA p.Arg2308His p.Arg2308His c.6923G>A missense_variant 2 9.77966416633253e-06 0 0 0 2 0 0 0 0 CACNA1B constrhet 2308 H R 1 CACNA1B:2308:R:H ENST00000371372;NM_000718.3 9 141016356 rs371481501 C T gnomAD Exomes PASS NA p.Arg2309Cys p.Arg2309Cys c.6925C>T missense_variant 4 1.95488133870274e-05 0 0 0 0 0 3 0 1 CACNA1B constrhet 2309 C R 1 CACNA1B:2309:R:C ENST00000371372;NM_000718.3 9 141016359 rs201689533 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2310Met p.Val2310Met c.6928G>A missense_variant 16 7.10151617370309e-05 1 1 0 0 0 13 0 1 CACNA1B constrhet 2310 M V 1 CACNA1B:2310:V:M ENST00000371372;NM_000718.3 9 141016363 rs779972634 C T gnomAD Exomes PASS NA p.Pro2311Leu p.Pro2311Leu c.6932C>T missense_variant 2 9.81922801229367e-06 0 0 0 0 0 2 0 0 CACNA1B constrhet 2311 L P 1 CACNA1B:2311:P:L ENST00000371372;NM_000718.3 9 141016368 rs201016837 G A gnomAD Exomes PASS NA p.Gly2313Ser p.Gly2313Ser c.6937G>A missense_variant 4 1.96850393700787e-05 0 0 0 0 0 4 0 0 CACNA1B constrhet 2313 S G 1 CACNA1B:2313:G:S ENST00000371372;NM_000718.3 9 141016381 rs200035679 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2317Ile p.Thr2317Ile c.6950C>T missense_variant 17 7.61874030851417e-05 0 0 0 0 0 15 0 2 CACNA1B constrhet 2317 I T 1 CACNA1B:2317:T:I ENST00000371372;NM_000718.3 9 141016389 rs376809347 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu2320Phe p.Leu2320Phe c.6958C>T missense_variant 4 1.80084459611558e-05 0 0 0 0 0 4 0 0 CACNA1B constrhet 2320 F L 1 CACNA1B:2320:L:F ENST00000371372;NM_000718.3 9 141016396 rs200832957 C T gnomAD Exomes PASS NA p.Ser2322Leu p.Ser2322Leu c.6965C>T missense_variant 4 2.00702458605118e-05 0 0 0 0 0 4 0 0 CACNA1B constrhet 2322 L S 1 CACNA1B:2322:S:L ENST00000371372;NM_000718.3 9 141016399 rs763357654 G A gnomAD Exomes PASS NA p.Gly2323Asp p.Gly2323Asp c.6968G>A missense_variant 4 2.00994924878147e-05 0 3 0 0 0 0 1 0 CACNA1B constrhet 2323 D G 1 CACNA1B:2323:G:D ENST00000371372;NM_000718.3 9 141016405 rs767110355 G A gnomAD Exomes PASS NA p.Arg2325Gln p.Arg2325Gln c.6974G>A missense_variant 6 3.03526983548837e-05 0 0 0 0 0 4 0 2 CACNA1B constrhet 2325 Q R 1 CACNA1B:2325:R:Q ENST00000371372;NM_000718.3 9 141016407 rs369460375 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2326Thr p.Ala2326Thr c.6976G>A missense_variant 8 3.6680421824851e-05 8 0 0 0 0 0 0 0 CACNA1B constrhet 2326 T A 1 CACNA1B:2326:A:T ENST00000371372;NM_000718.3 9 141016411 rs753876739 G A gnomAD Exomes PASS NA p.Arg2327Gln p.Arg2327Gln c.6980G>A missense_variant 4 2.03709550922295e-05 0 2 0 0 0 2 0 0 CACNA1B constrhet 2327 Q R 1 CACNA1B:2327:R:Q ENST00000371372;NM_000718.3 9 141016413 rs754839082 C T gnomAD Exomes PASS NA p.His2328Tyr p.His2328Tyr c.6982C>T missense_variant 2 1.02058520355572e-05 1 0 0 0 0 1 0 0 CACNA1B constrhet 2328 Y H 1 CACNA1B:2328:H:Y ENST00000371372;NM_000718.3 9 141016429 rs781499435 C G gnomAD Exomes PASS NA p.Pro2333Arg p.Pro2333Arg c.6998C>G missense_variant 3 1.54311462255416e-05 0 0 0 0 0 3 0 0 CACNA1B constrhet 2333 R P 1 CACNA1B:2333:P:R ENST00000371372;NM_000718.3 9 141016441 rs150679456 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.His2337Arg p.His2337Arg c.7010A>G missense_variant 528 0.0024652622142537 476 40 0 0 0 1 8 3 CACNA1B constrhet 2337 R H 1 CACNA1B:2337:H:R ENST00000371372;NM_000718.3 12 2162730 rs761378545 T C gnomAD Exomes PASS NA p.Met1? p.Met1? c.2T>C start_lost 5 2.73427246478257e-05 0 0 0 0 0 3 1 1 CACNA1C constrhet 1 T M 1 CACNA1C:1:M:T ENST00000347598 12 2162763 rs751212715 A T gnomAD Exomes PASS NA p.Glu12Val p.Glu12Val c.35A>T missense_variant 29 0.000157682395032461 0 29 0 0 0 0 0 0 CACNA1C constrhet 12 V E 1 CACNA1C:12:E:V ENST00000347598 12 2162765 rs754656999 G A gnomAD Exomes PASS NA p.Glu13Lys p.Glu13Lys c.37G>A missense_variant 3 1.63778702217564e-05 0 0 0 0 0 0 0 3 CACNA1C constrhet 13 K E 1 CACNA1C:13:E:K ENST00000347598 12 2224393 rs1216229121 C T gnomAD Exomes PASS NA p.Ser18Phe p.Ser18Phe c.53C>T missense_variant 2 1.2701638511368e-05 0 0 0 0 0 2 0 0 CACNA1C constrhet 18 F S 1 CACNA1C:18:S:F ENST00000347598 12 2224405 rs769703001 G T gnomAD Exomes PASS NA p.Ser22Ile p.Ser22Ile c.65G>T missense_variant 6 3.5710459593615e-05 1 5 0 0 0 0 0 0 CACNA1C constrhet 22 I S 1 CACNA1C:22:S:I ENST00000347598 12 2224411 rs200941579 G A gnomAD Exomes PASS NA p.Arg24His p.Arg24His c.71G>A missense_variant 4 2.30406783175697e-05 1 2 0 0 0 1 0 0 CACNA1C constrhet 24 H R 1 CACNA1C:24:R:H ENST00000347598 12 2224416 rs369483452 G A gnomAD Exomes PASS NA p.Ala26Thr p.Ala26Thr c.76G>A missense_variant 7 3.94224054425447e-05 0 0 0 0 4 2 1 0 CACNA1C constrhet 26 T A 1 CACNA1C:26:A:T ENST00000347598 12 2224422 rs373687005 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala28Thr p.Ala28Thr c.82G>A missense_variant 8 3.94831653653673e-05 0 2 0 0 0 6 0 0 CACNA1C constrhet 28 T A 1 CACNA1C:28:A:T ENST00000347598 12 2224431 rs531598856 A G gnomAD Exomes PASS NA p.Asn31Asp p.Asn31Asp c.91A>G missense_variant 2 1.10560764196002e-05 0 0 0 0 0 0 0 2 CACNA1C constrhet 31 D N 1 CACNA1C:31:N:D ENST00000347598 12 2224438 rs535608443 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn33Ser p.Asn33Ser c.98A>G missense_variant 6 3.0036644706542e-05 1 0 0 0 0 4 1 0 CACNA1C constrhet 33 S N 1 CACNA1C:33:N:S ENST00000347598 12 2224441 rs551396698 C T gnomAD Exomes PASS NA p.Ala34Val p.Ala34Val c.101C>T missense_variant 10 5.69794076420782e-05 0 0 0 2 0 0 0 8 CACNA1C constrhet 34 V A 1 CACNA1C:34:A:V ENST00000347598 12 2224449 rs34534613 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly37Arg p.Gly37Arg c.109G>A missense_variant 645 0.0033059630347203 6 49 9 0 121 439 11 10 CACNA1C constrhet 37 R G 1 CACNA1C:37:G:R ENST00000347598 12 2224482 rs1157586705 G C gnomAD Exomes PASS NA p.Ala48Pro p.Ala48Pro c.142G>C missense_variant 4 2.29602672575109e-05 0 0 0 0 0 4 0 0 CACNA1C constrhet 48 P A 1 CACNA1C:48:A:P ENST00000347598 12 2224501 rs775019372 C T gnomAD Exomes PASS NA p.Ala54Val p.Ala54Val c.161C>T missense_variant 4 2.60752793314298e-05 0 0 0 0 3 1 0 0 CACNA1C constrhet 54 V A 1 CACNA1C:54:A:V ENST00000347598 12 2224501 rs775019372 C G gnomAD Exomes PASS NA p.Ala54Gly p.Ala54Gly c.161C>G missense_variant 3 1.95564594985724e-05 1 0 0 0 0 1 0 1 CACNA1C constrhet 54 G A 1 CACNA1C:54:A:G ENST00000347598 12 2224509 rs773528195 G A gnomAD Exomes PASS NA p.Asp57Asn p.Asp57Asn c.169G>A missense_variant 2 1.22120997484307e-05 0 1 0 0 0 0 0 1 CACNA1C constrhet 57 N D 1 CACNA1C:57:D:N ENST00000347598 12 2224542 rs752000790 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala68Thr p.Ala68Thr c.202G>A missense_variant 37 0.000172429862988163 0 1 0 0 1 34 0 1 CACNA1C constrhet 68 T A 1 CACNA1C:68:A:T ENST00000347598 12 2224552 rs755579963 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala71Val p.Ala71Val c.212C>T missense_variant 21 9.59622731177686e-05 0 0 0 0 7 12 1 1 CACNA1C constrhet 71 V A 1 CACNA1C:71:A:V ENST00000347598 12 2224570 rs536377458 G T gnomAD Exomes PASS NA p.Ser77Ile p.Ser77Ile c.230G>T missense_variant 2 9.89765821406655e-06 2 0 0 0 0 0 0 0 CACNA1C constrhet 77 I S 1 CACNA1C:77:S:I ENST00000347598 12 2224576 rs749031775 C T gnomAD Exomes PASS NA p.Thr79Met p.Thr79Met c.236C>T missense_variant 5 2.46628587212801e-05 1 0 0 1 0 2 0 1 CACNA1C constrhet 79 M T 1 CACNA1C:79:T:M ENST00000347598 12 2224581 rs745759667 C T gnomAD Exomes PASS NA p.Arg81Trp p.Arg81Trp c.241C>T missense_variant 4 1.97054042071038e-05 0 2 0 0 0 1 0 1 CACNA1C constrhet 81 W R 1 CACNA1C:81:R:W ENST00000347598 12 2224597 rs768230910 A G gnomAD Exomes PASS NA p.Tyr86Cys p.Tyr86Cys c.257A>G missense_variant 2 9.81229087555072e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 86 C Y 1 CACNA1C:86:Y:C ENST00000347598 12 2224615 rs766650940 A C gnomAD Exomes PASS NA p.Gln92Pro p.Gln92Pro c.275A>C missense_variant 3 1.46735143066764e-05 0 3 0 0 0 0 0 0 CACNA1C constrhet 92 P Q 1 CACNA1C:92:Q:P ENST00000347598 12 2224635 rs756273121 C T gnomAD Exomes PASS NA p.Arg99Cys p.Arg99Cys c.295C>T missense_variant 2 9.78569331637147e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 99 C R 1 CACNA1C:99:R:C ENST00000347598 12 2224653 rs778550818 C T gnomAD Exomes PASS NA p.Leu105Phe p.Leu105Phe c.313C>T missense_variant 2 9.77201880136417e-06 0 1 0 0 0 0 0 1 CACNA1C constrhet 105 F L 1 CACNA1C:105:L:F ENST00000347598 12 2229579 rs1064796583 G A gnomAD Exomes PASS NA p.Ala154Thr p.Ala154Thr c.460G>A missense_variant 2 9.70383883864457e-06 0 0 0 0 0 1 0 1 CACNA1C constrhet 154 T A 1 CACNA1C:154:A:T ENST00000347598 12 2229582 rs750645940 A G gnomAD Exomes PASS NA p.Thr155Ala p.Thr155Ala c.463A>G missense_variant 2 9.70449803483915e-06 2 0 0 0 0 0 0 0 CACNA1C constrhet 155 A T 1 CACNA1C:155:T:A ENST00000347598 12 2558146 rs777210376 G A gnomAD Exomes PASS NA p.Arg161Gln p.Arg161Gln c.482G>A missense_variant 6 2.96284591226026e-05 1 0 0 0 0 5 0 0 CACNA1C constrhet 161 Q R 1 CACNA1C:161:R:Q ENST00000347598 12 2558176 rs199586997 C T gnomAD Exomes PASS NA p.Thr171Met p.Thr171Met c.512C>T missense_variant 5 2.46791707798618e-05 1 3 0 0 0 1 0 0 CACNA1C constrhet 171 M T 1 CACNA1C:171:T:M ENST00000347598 12 2558202 rs786205769 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala180Thr p.Ala180Thr c.538G>A missense_variant 2 9.23199069415338e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 180 T A 1 CACNA1C:180:A:T ENST00000347598 12 2558206 rs774096274 A G gnomAD Exomes PASS NA p.Tyr181Cys p.Tyr181Cys c.542A>G missense_variant 2 1.03690339171099e-05 0 0 0 0 0 2 0 0 CACNA1C constrhet 181 C Y 1 CACNA1C:181:Y:C ENST00000347598 12 2558238 rs756042537 C T gnomAD Exomes PASS NA p.Arg192Cys p.Arg192Cys c.574C>T missense_variant 2 1.18065148348859e-05 0 0 0 0 0 2 0 0 CACNA1C constrhet 192 C R 1 CACNA1C:192:R:C ENST00000347598 12 2558244 rs753418562 G A gnomAD Exomes PASS NA p.Gly194Ser p.Gly194Ser c.580G>A missense_variant 4 2.50711393579281e-05 0 1 0 1 0 2 0 0 CACNA1C constrhet 194 S G 1 CACNA1C:194:G:S ENST00000347598 12 2566772 rs778260348 T A gnomAD Exomes PASS NA p.Asp219Glu p.Asp219Glu c.657T>A missense_variant 2 9.72951936174353e-06 0 0 0 0 0 1 0 1 CACNA1C constrhet 219 E D 1 CACNA1C:219:D:E ENST00000347598 12 2595377 rs770311259 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu289Ile p.Leu289Ile c.865C>A missense_variant 3 1.31902919451284e-05 3 0 0 0 0 0 0 0 CACNA1C constrhet 289 I L 1 CACNA1C:289:L:I ENST00000347598 12 2595410 rs200289321 A G gnomAD Exomes PASS NA p.Asn300Asp p.Asn300Asp c.898A>G missense_variant 4 1.94393686093076e-05 0 2 0 0 0 2 0 0 CACNA1C constrhet 300 D N 1 CACNA1C:300:N:D ENST00000347598 12 2595413 rs538921079 C G gnomAD Exomes PASS NA p.Gln301Glu p.Gln301Glu c.901C>G missense_variant 3 1.45825029408048e-05 3 0 0 0 0 0 0 0 CACNA1C constrhet 301 E Q 1 CACNA1C:301:Q:E ENST00000347598 12 2595423 rs201756421 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile304Thr p.Ile304Thr c.911T>C missense_variant 112 0.000494005769281663 1 2 6 0 0 99 4 0 CACNA1C constrhet 304 T I 1 CACNA1C:304:I:T ENST00000347598 12 2602392 rs745856938 T C gnomAD Exomes PASS NA p.Leu318Pro p.Leu318Pro c.953T>C missense_variant 2 9.7253559480277e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 318 P L 1 CACNA1C:318:L:P ENST00000347598 12 2602398 rs377737331 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr320Met p.Thr320Met c.959C>T missense_variant 16 7.04938978719655e-05 1 4 0 0 0 6 0 5 CACNA1C constrhet 320 M T 1 CACNA1C:320:T:M ENST00000347598 12 2602428 rs377345545 C T gnomAD Exomes PASS NA p.Thr330Met p.Thr330Met c.989C>T missense_variant 5 2.42163586345848e-05 0 0 0 0 1 2 1 1 CACNA1C constrhet 330 M T 1 CACNA1C:330:T:M ENST00000347598 12 2602541 rs768152404 G A gnomAD Exomes PASS NA p.Val368Met p.Val368Met c.1102G>A missense_variant 2 9.65372102676977e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 368 M V 1 CACNA1C:368:V:M ENST00000347598 12 2614020 rs1131653 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val376Ile p.Val376Ile c.1126G>A missense_variant 9 3.97179145447003e-05 1 1 0 0 0 2 1 4 CACNA1C constrhet 376 I V 1 CACNA1C:376:V:I ENST00000347598 12 2614074 rs753538989 T C gnomAD Exomes PASS NA p.Phe394Leu p.Phe394Leu c.1180T>C missense_variant 2 9.7264910710812e-06 0 1 0 0 0 0 0 1 CACNA1C constrhet 394 L F 1 CACNA1C:394:F:L ENST00000347598 12 2614080 rs757029407 G A gnomAD Exomes PASS NA p.Val396Ile p.Val396Ile c.1186G>A missense_variant 3 1.45893108982152e-05 0 0 0 0 0 1 1 1 CACNA1C constrhet 396 I V 1 CACNA1C:396:V:I ENST00000347598 12 2622120 rs775414849 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu454Lys p.Glu454Lys c.1360G>A missense_variant 2 9.15130772187346e-06 0 0 0 0 0 1 0 1 CACNA1C constrhet 454 K E 1 CACNA1C:454:E:K ENST00000347598 12 2659115 rs769782016 T C gnomAD Exomes PASS NA p.Met466Thr p.Met466Thr c.1397T>C missense_variant 2 1.0535076537331e-05 0 0 0 0 0 2 0 0 CACNA1C constrhet 466 T M 1 CACNA1C:466:M:T ENST00000347598 12 2659124 rs777076698 G A gnomAD Exomes PASS NA p.Ser469Asn p.Ser469Asn c.1406G>A missense_variant 3 1.55369572422937e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 469 N S 1 CACNA1C:469:S:N ENST00000347598 12 2659138 rs765581751 G T gnomAD Exomes PASS NA p.Val474Phe p.Val474Phe c.1420G>T missense_variant 3 1.52625152625153e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 474 F V 1 CACNA1C:474:V:F ENST00000347598 12 2659153 rs752677964 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val479Met p.Val479Met c.1435G>A missense_variant 5 2.28327183721185e-05 0 0 0 0 0 5 0 0 CACNA1C constrhet 479 M V 1 CACNA1C:479:V:M ENST00000347598 12 2659171 rs763065970 G A gnomAD Exomes PASS NA p.Glu485Lys p.Glu485Lys c.1453G>A missense_variant 3 1.52984732123734e-05 0 3 0 0 0 0 0 0 CACNA1C constrhet 485 K E 1 CACNA1C:485:E:K ENST00000347598 12 2659173 rs766606659 G C gnomAD Exomes PASS NA p.Glu485Asp p.Glu485Asp c.1455G>C missense_variant 2 1.02103328568511e-05 0 0 0 0 0 0 0 2 CACNA1C constrhet 485 D E 1 CACNA1C:485:E:D ENST00000347598 12 2659186 rs121912775 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly490Arg p.Gly490Arg c.1468G>A missense_variant 101 0.00047290843368981 0 12 63 1 0 21 0 4 CACNA1C constrhet 490 R G 1 CACNA1C:490:G:R ENST00000347598 12 2659190 rs777785794 C G gnomAD Exomes PASS NA p.Ala491Gly p.Ala491Gly c.1472C>G missense_variant 2 1.05133677470904e-05 0 0 0 2 0 0 0 0 CACNA1C constrhet 491 G A 1 CACNA1C:491:A:G ENST00000347598 12 2659195 rs376530064 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu493Met p.Leu493Met c.1477C>A missense_variant 10 4.76985451943716e-05 2 0 0 0 0 8 0 0 CACNA1C constrhet 493 M L 1 CACNA1C:493:L:M ENST00000347598 12 2659199 rs762879256 C T gnomAD Exomes PASS NA p.Ala494Val p.Ala494Val c.1481C>T missense_variant 4 2.1613677134891e-05 1 1 0 0 0 2 0 0 CACNA1C constrhet 494 V A 1 CACNA1C:494:A:V ENST00000347598 12 2666119 rs954219850 A G gnomAD Exomes PASS NA p.His495Arg p.His495Arg c.1484A>G missense_variant 2 9.70534570441399e-06 2 0 0 0 0 0 0 0 CACNA1C constrhet 495 R H 1 CACNA1C:495:H:R ENST00000347598 12 2666120 rs373335068 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.His495Gln p.His495Gln c.1485C>A missense_variant 12 5.27890198838642e-05 11 1 0 0 0 0 0 0 CACNA1C constrhet 495 Q H 1 CACNA1C:495:H:Q ENST00000347598 12 2666121 rs760888275 C T gnomAD Exomes PASS NA p.Arg496Trp p.Arg496Trp c.1486C>T missense_variant 13 6.3084134825354e-05 0 0 9 1 0 3 0 0 CACNA1C constrhet 496 W R 1 CACNA1C:496:R:W ENST00000347598 12 2666122 rs369255950 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg496Gln p.Arg496Gln c.1487G>A missense_variant 12 5.27945938335914e-05 2 0 0 1 0 3 0 6 CACNA1C constrhet 496 Q R 1 CACNA1C:496:R:Q ENST00000347598 12 2675589 rs370634418 C T gnomAD Exomes PASS NA p.Arg504Cys p.Arg504Cys c.1510C>T missense_variant 2 1.1324130589874e-05 0 0 0 0 0 0 0 2 CACNA1C constrhet 504 C R 1 CACNA1C:504:R:C ENST00000347598 12 2675599 rs768830617 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg507His p.Arg507His c.1520G>A missense_variant 8 3.95980794931446e-05 0 2 0 3 0 3 0 0 CACNA1C constrhet 507 H R 1 CACNA1C:507:R:H ENST00000347598 12 2675601 rs776805699 C T gnomAD Exomes PASS NA p.Arg508Trp p.Arg508Trp c.1522C>T missense_variant 4 2.22042121390428e-05 1 0 0 0 0 3 0 0 CACNA1C constrhet 508 W R 1 CACNA1C:508:R:W ENST00000347598 12 2675634 rs371702432 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala519Thr p.Ala519Thr c.1555G>A missense_variant 6 2.96841605319402e-05 0 0 0 0 0 6 0 0 CACNA1C constrhet 519 T A 1 CACNA1C:519:A:T ENST00000347598 12 2675635 rs1231323774 C T gnomAD Exomes PASS NA p.Ala519Val p.Ala519Val c.1556C>T missense_variant 2 1.10333870291502e-05 0 0 0 0 1 1 0 0 CACNA1C constrhet 519 V A 1 CACNA1C:519:A:V ENST00000347598 12 2675728 rs781306162 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn550Ser p.Asn550Ser c.1649A>G missense_variant 3 1.45187049315201e-05 1 1 0 0 0 1 0 0 CACNA1C constrhet 550 S N 1 CACNA1C:550:N:S ENST00000347598 12 2675748 rs1443291194 G A gnomAD Exomes PASS NA p.Asp557Asn p.Asp557Asn c.1669G>A missense_variant 2 1.12325474294315e-05 0 0 0 1 0 1 0 0 CACNA1C constrhet 557 N D 1 CACNA1C:557:D:N ENST00000347598 12 2676738 rs572234918 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr558Met p.Thr558Met c.1673C>T missense_variant 26 0.000138434834463884 0 1 0 15 0 7 0 3 CACNA1C constrhet 558 M T 1 CACNA1C:558:T:M ENST00000347598 12 2676758 rs777945001 G A gnomAD Exomes PASS NA p.Ala565Thr p.Ala565Thr c.1693G>A missense_variant 7 3.84497077822209e-05 0 0 0 0 0 0 0 7 CACNA1C constrhet 565 T A 1 CACNA1C:565:A:T ENST00000347598 12 2676768 rs749561588 C T gnomAD Exomes PASS NA p.Thr568Met p.Thr568Met c.1703C>T missense_variant 2 1.06073784924794e-05 0 1 0 0 0 1 0 0 CACNA1C constrhet 568 M T 1 CACNA1C:568:T:M ENST00000347598 12 2676788 rs1157777158 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Met575Leu p.Met575Leu c.1723A>T missense_variant 2 9.04592616715062e-06 2 0 0 0 0 0 0 0 CACNA1C constrhet 575 L M 1 CACNA1C:575:M:L ENST00000347598 12 2676794 rs772171893 A G gnomAD Exomes PASS NA p.Ser577Gly p.Ser577Gly c.1729A>G missense_variant 4 1.98586067201525e-05 0 4 0 0 0 0 0 0 CACNA1C constrhet 577 G S 1 CACNA1C:577:S:G ENST00000347598 12 2676818 rs763738559 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val585Met p.Val585Met c.1753G>A missense_variant 7 3.09995128647978e-05 0 0 0 1 0 5 0 1 CACNA1C constrhet 585 M V 1 CACNA1C:585:V:M ENST00000347598 12 2676833 rs776145143 C T gnomAD Exomes PASS NA p.Arg590Cys p.Arg590Cys c.1768C>T missense_variant 3 1.45887433256499e-05 0 0 0 1 0 1 0 1 CACNA1C constrhet 590 C R 1 CACNA1C:590:R:C ENST00000347598 12 2676848 rs201392574 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val595Ile p.Val595Ile c.1783G>A missense_variant 41 0.000180398989765657 0 0 0 1 18 17 2 3 CACNA1C constrhet 595 I V 1 CACNA1C:595:V:I ENST00000347598 12 2676888 rs757507674 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr608Ile p.Thr608Ile c.1823C>T missense_variant 3 1.32038766581868e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 608 I T 1 CACNA1C:608:T:I ENST00000347598 12 2676888 rs757507674 C A gnomAD Exomes PASS NA p.Thr608Asn p.Thr608Asn c.1823C>A missense_variant 2 9.71062342202369e-06 2 0 0 0 0 0 0 0 CACNA1C constrhet 608 N T 1 CACNA1C:608:T:N ENST00000347598 12 2676893 rs745683109 A G gnomAD Exomes PASS NA p.Ile610Val p.Ile610Val c.1828A>G missense_variant 3 1.45646622454825e-05 0 0 0 0 0 0 0 3 CACNA1C constrhet 610 V I 1 CACNA1C:610:I:V ENST00000347598 12 2676929 rs768270021 G A gnomAD Exomes PASS NA p.Val622Ile p.Val622Ile c.1864G>A missense_variant 5 2.44042912505735e-05 0 0 1 0 0 4 0 0 CACNA1C constrhet 622 I V 1 CACNA1C:622:V:I ENST00000347598 12 2690913 rs1485010033 C T gnomAD Exomes PASS NA p.Arg685Trp p.Arg685Trp c.2053C>T missense_variant 2 9.70930345457017e-06 0 0 0 2 0 0 0 0 CACNA1C constrhet 685 W R 1 CACNA1C:685:R:W ENST00000347598 12 2690928 rs369638898 G A gnomAD Exomes PASS NA p.Asp690Asn p.Asp690Asn c.2068G>A missense_variant 2 9.73709834469328e-06 1 0 0 0 0 1 0 0 CACNA1C constrhet 690 N D 1 CACNA1C:690:D:N ENST00000347598 12 2692072 rs752663570 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys730Ser p.Cys730Ser c.2188T>A missense_variant 11 5.37030708392325e-05 0 0 0 10 0 0 1 0 CACNA1C constrhet 730 S C 1 CACNA1C:730:C:S ENST00000347598 12 2693752 rs778456629 G A gnomAD Exomes PASS NA p.Glu770Lys p.Glu770Lys c.2308G>A missense_variant 5 2.43053530109471e-05 0 0 0 0 0 1 0 4 CACNA1C constrhet 770 K E 1 CACNA1C:770:E:K ENST00000347598 12 2693758 rs1361366772 G A gnomAD Exomes PASS NA p.Glu772Lys p.Glu772Lys c.2314G>A missense_variant 2 9.72980336067408e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 772 K E 1 CACNA1C:772:E:K ENST00000347598 12 2694552 rs749935207 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro784Ser p.Pro784Ser c.2350C>T missense_variant 16 7.12580610681583e-05 0 6 0 0 0 10 0 0 CACNA1C constrhet 784 S P 1 CACNA1C:784:P:S ENST00000347598 12 2694564 rs751261669 C G gnomAD Exomes PASS NA p.Gln788Glu p.Gln788Glu c.2362C>G missense_variant 15 7.37492133417244e-05 0 0 0 0 0 0 0 15 CACNA1C constrhet 788 E Q 1 CACNA1C:788:Q:E ENST00000347598 12 2694583 rs771393283 C T gnomAD Exomes PASS NA p.Pro794Leu p.Pro794Leu c.2381C>T missense_variant 3 1.49136499666928e-05 0 0 0 0 0 1 1 1 CACNA1C constrhet 794 L P 1 CACNA1C:794:P:L ENST00000347598 12 2694589 rs1277492029 T G gnomAD Exomes PASS NA p.Val796Gly p.Val796Gly c.2387T>G missense_variant 2 1.00158250035055e-05 0 2 0 0 0 0 0 0 CACNA1C constrhet 796 G V 1 CACNA1C:796:V:G ENST00000347598 12 2694597 rs749753740 T A gnomAD Exomes PASS NA p.Ser799Thr p.Ser799Thr c.2395T>A missense_variant 4 2.04033747181784e-05 0 0 0 0 0 4 0 0 CACNA1C constrhet 799 T S 1 CACNA1C:799:S:T ENST00000347598 12 2694598 rs398123519 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser799Tyr p.Ser799Tyr c.2396C>A missense_variant 5 2.30846653185222e-05 0 0 0 0 0 4 1 0 CACNA1C constrhet 799 Y S 1 CACNA1C:799:S:Y ENST00000347598 12 2694600 rs779009338 A C gnomAD Exomes PASS NA p.Lys800Gln p.Lys800Gln c.2398A>C missense_variant 2 1.03902580940111e-05 0 2 0 0 0 0 0 0 CACNA1C constrhet 800 Q K 1 CACNA1C:800:K:Q ENST00000347598 12 2694617 rs764523329 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu805Asp p.Glu805Asp c.2415G>T missense_variant 3 1.49754402779442e-05 0 0 0 0 2 1 0 0 CACNA1C constrhet 805 D E 1 CACNA1C:805:E:D ENST00000347598 12 2694627 rs1404975281 A G gnomAD Exomes PASS NA p.Ile809Val p.Ile809Val c.2425A>G missense_variant 2 1.2200329408894e-05 0 0 0 0 0 0 0 2 CACNA1C constrhet 809 V I 1 CACNA1C:809:I:V ENST00000347598 12 2694639 rs545511851 G A gnomAD Exomes PASS NA p.Gly813Arg p.Gly813Arg c.2437G>A missense_variant 5 3.35913146296893e-05 0 0 0 0 0 3 0 2 CACNA1C constrhet 813 R G 1 CACNA1C:813:G:R ENST00000347598 12 2694651 rs112532048 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro817Ser p.Pro817Ser c.2449C>T missense_variant 403 0.00247911514659383 18 26 17 0 4 319 11 8 CACNA1C constrhet 817 S P 1 CACNA1C:817:P:S ENST00000347598 12 2694658 rs1258421090 C T gnomAD Exomes PASS NA p.Thr819Ile p.Thr819Ile c.2456C>T missense_variant 2 1.43387677263016e-05 0 0 0 0 2 0 0 0 CACNA1C constrhet 819 I T 1 CACNA1C:819:T:I ENST00000347598 12 2695026 rs773015884 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn829Ser p.Asn829Ser c.2486A>G missense_variant 9 4.06008932196508e-05 2 4 0 1 0 2 0 0 CACNA1C constrhet 829 S N 1 CACNA1C:829:N:S ENST00000347598 12 2695057 rs774002530 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn839Lys p.Asn839Lys c.2517C>A missense_variant 10 4.72036554510781e-05 0 0 0 10 0 0 0 0 CACNA1C constrhet 839 K N 1 CACNA1C:839:N:K ENST00000347598 12 2702398 rs767204844 G C gnomAD Exomes PASS NA p.Glu850Asp p.Glu850Asp c.2550G>C missense_variant 5 2.43380062305296e-05 0 0 0 0 0 0 1 4 CACNA1C constrhet 850 D E 1 CACNA1C:850:E:D ENST00000347598 12 2702414 rs145549773 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly856Ser p.Gly856Ser c.2566G>A missense_variant 12 5.29231203471757e-05 0 3 0 1 0 8 0 0 CACNA1C constrhet 856 S G 1 CACNA1C:856:G:S ENST00000347598 12 2702427 rs730880056 G A gnomAD Exomes PASS NA p.Arg860Gln p.Arg860Gln c.2579G>A missense_variant 3 1.4600529512537e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 860 Q R 1 CACNA1C:860:R:Q ENST00000347598 12 2702463 rs1212862331 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val872Ala p.Val872Ala c.2615T>C missense_variant 2 8.81453340267433e-06 2 0 0 0 0 0 0 0 CACNA1C constrhet 872 A V 1 CACNA1C:872:V:A ENST00000347598 12 2705064 rs1290122723 T G gnomAD Exomes PASS NA p.Ile896Met p.Ile896Met c.2688T>G missense_variant 2 9.71647330884782e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 896 M I 1 CACNA1C:896:I:M ENST00000347598 12 2705071 rs772168142 G A gnomAD Exomes PASS NA p.Asp899Asn p.Asp899Asn c.2695G>A missense_variant 3 1.45720197790882e-05 0 0 1 0 0 2 0 0 CACNA1C constrhet 899 N D 1 CACNA1C:899:D:N ENST00000347598 12 2706415 rs377165829 T C gnomAD Exomes PASS NA p.Ile938Thr p.Ile938Thr c.2813T>C missense_variant 6 2.91191458383887e-05 0 0 0 0 0 1 1 4 CACNA1C constrhet 938 T I 1 CACNA1C:938:I:T ENST00000347598 12 2706418 rs754495060 T C gnomAD Exomes PASS NA p.Val939Ala p.Val939Ala c.2816T>C missense_variant 4 1.94135176323274e-05 2 0 0 0 0 2 0 0 CACNA1C constrhet 939 A V 1 CACNA1C:939:V:A ENST00000347598 12 2706426 rs369884505 A G gnomAD Exomes PASS NA p.Thr942Ala p.Thr942Ala c.2824A>G missense_variant 2 9.70798384591488e-06 2 0 0 0 0 0 0 0 CACNA1C constrhet 942 A T 1 CACNA1C:942:T:A ENST00000347598 12 2706439 rs747728381 T C gnomAD Exomes PASS NA p.Ile946Thr p.Ile946Thr c.2837T>C missense_variant 5 2.42664259437213e-05 0 1 0 0 0 4 0 0 CACNA1C constrhet 946 T I 1 CACNA1C:946:I:T ENST00000347598 12 2714266 rs372495864 G A gnomAD Exomes PASS NA p.Val1014Met p.Val1014Met c.3040G>A missense_variant 2 9.70581669594588e-06 0 1 0 0 0 1 0 0 CACNA1C constrhet 1014 M V 1 CACNA1C:1014:V:M ENST00000347598 12 2714860 rs756593624 G A gnomAD Exomes PASS NA p.Val1042Met p.Val1042Met c.3124G>A missense_variant 3 1.44178088775255e-05 0 3 0 0 0 0 0 0 CACNA1C constrhet 1042 M V 1 CACNA1C:1042:V:M ENST00000347598 12 2715781 rs1305965146 A G gnomAD Genomes NA PASS p.Lys1074Arg p.Lys1074Arg c.3221A>G missense_variant 2 9.41530929291027e-05 0 0 0 0 0 2 0 0 CACNA1C constrhet 1074 R K 1 CACNA1C:1074:K:R ENST00000347598 12 2715820 rs750998195 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1087Val p.Ala1087Val c.3260C>T missense_variant 19 8.64099835366242e-05 1 2 1 5 0 3 0 7 CACNA1C constrhet 1087 V A 1 CACNA1C:1087:A:V ENST00000347598 12 2716160 rs786205779 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1094Val p.Ile1094Val c.3280A>G missense_variant 2 8.79878928659416e-06 1 0 0 0 0 1 0 0 CACNA1C constrhet 1094 V I 1 CACNA1C:1094:I:V ENST00000347598 12 2716164 rs766410481 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1095Met p.Thr1095Met c.3284C>T missense_variant 5 2.19983281270623e-05 0 2 0 1 0 0 1 1 CACNA1C constrhet 1095 M T 1 CACNA1C:1095:T:M ENST00000347598 12 2716235 rs771549676 G A gnomAD Exomes PASS NA p.Asp1119Asn p.Asp1119Asn c.3355G>A missense_variant 3 1.45700381735e-05 3 0 0 0 0 0 0 0 CACNA1C constrhet 1119 N D 1 CACNA1C:1119:D:N ENST00000347598 12 2716271 rs766023530 G A gnomAD Exomes PASS NA p.Val1131Ile p.Val1131Ile c.3391G>A missense_variant 2 9.74934435659202e-06 0 0 0 0 1 1 0 0 CACNA1C constrhet 1131 I V 1 CACNA1C:1131:V:I ENST00000347598 12 2717687 rs1057518445 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1143Cys p.Arg1143Cys c.3427C>T missense_variant 3 1.34630573705751e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 1143 C R 1 CACNA1C:1143:R:C ENST00000347598 12 2717688 rs745853358 G A gnomAD Exomes PASS NA p.Arg1143His p.Arg1143His c.3428G>A missense_variant 4 1.97976678347291e-05 0 0 0 0 0 2 0 2 CACNA1C constrhet 1143 H R 1 CACNA1C:1143:R:H ENST00000347598 12 2717711 rs776318939 G A gnomAD Exomes PASS NA p.Asp1151Asn p.Asp1151Asn c.3451G>A missense_variant 7 3.39242616626765e-05 0 7 0 0 0 0 0 0 CACNA1C constrhet 1151 N D 1 CACNA1C:1151:D:N ENST00000347598 12 2717736 rs1373685560 G A gnomAD Exomes PASS NA p.Arg1159His p.Arg1159His c.3476G>A missense_variant 4 1.92828700623801e-05 0 0 0 1 1 2 0 0 CACNA1C constrhet 1159 H R 1 CACNA1C:1159:R:H ENST00000347598 12 2717744 rs752247655 A C gnomAD Exomes PASS NA p.Ile1162Leu p.Ile1162Leu c.3484A>C missense_variant 2 9.63029304981751e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 1162 L I 1 CACNA1C:1162:I:L ENST00000347598 12 2719708 rs368861681 G A gnomAD Exomes PASS NA p.Arg1207Gln p.Arg1207Gln c.3620G>A missense_variant 2 9.74193611238298e-06 0 0 0 0 1 1 0 0 CACNA1C constrhet 1207 Q R 1 CACNA1C:1207:R:Q ENST00000347598 12 2719791 rs747533547 G A gnomAD Exomes PASS NA p.Val1235Met p.Val1235Met c.3703G>A missense_variant 2 9.65586497238423e-06 0 2 0 0 0 0 0 0 CACNA1C constrhet 1235 M V 1 CACNA1C:1235:V:M ENST00000347598 12 2719827 rs373124557 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1247Ile p.Val1247Ile c.3739G>A missense_variant 8 3.49812413093479e-05 0 0 0 2 0 6 0 0 CACNA1C constrhet 1247 I V 1 CACNA1C:1247:V:I ENST00000347598 12 2719839 rs766971426 C T gnomAD Exomes PASS NA p.Leu1251Phe p.Leu1251Phe c.3751C>T missense_variant 2 9.64255064749728e-06 0 0 0 0 0 0 0 2 CACNA1C constrhet 1251 F L 1 CACNA1C:1251:L:F ENST00000347598 12 2721099 rs373930708 G T gnomAD Exomes PASS NA p.Ala1270Ser p.Ala1270Ser c.3808G>T missense_variant 2 9.67043168807055e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 1270 S A 1 CACNA1C:1270:A:S ENST00000347598 12 2721099 rs373930708 G A gnomAD Exomes PASS NA p.Ala1270Thr p.Ala1270Thr c.3808G>A missense_variant 4 1.93408633761411e-05 2 0 0 0 0 1 1 0 CACNA1C constrhet 1270 T A 1 CACNA1C:1270:A:T ENST00000347598 12 2721141 rs760543068 G A gnomAD Exomes PASS NA p.Val1284Met p.Val1284Met c.3850G>A missense_variant 12 5.80091267692784e-05 0 10 0 0 0 2 0 0 CACNA1C constrhet 1284 M V 1 CACNA1C:1284:V:M ENST00000347598 12 2742809 rs771788166 T A gnomAD Exomes PASS NA p.Asp1301Glu p.Asp1301Glu c.3903T>A missense_variant 3 1.45961252152928e-05 0 0 0 0 0 0 0 3 CACNA1C constrhet 1301 E D 1 CACNA1C:1301:D:E ENST00000347598 12 2742837 rs786205760 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1311Ile p.Val1311Ile c.3931G>A missense_variant 2 8.81655396171852e-06 0 1 0 0 0 1 0 0 CACNA1C constrhet 1311 I V 1 CACNA1C:1311:V:I ENST00000347598 12 2742842 rs746871049 T G gnomAD Exomes PASS NA p.Ile1312Met p.Ile1312Met c.3936T>G missense_variant 2 9.72658567662993e-06 0 0 0 2 0 0 0 0 CACNA1C constrhet 1312 M I 1 CACNA1C:1312:I:M ENST00000347598 12 2742849 rs114851656 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1315Val p.Ile1315Val c.3943A>G missense_variant 99 0.000436361713006224 89 9 0 0 0 0 1 0 CACNA1C constrhet 1315 V I 1 CACNA1C:1315:I:V ENST00000347598 12 2743496 rs367895193 G T gnomAD Exomes PASS NA p.Ala1336Ser p.Ala1336Ser c.4006G>T missense_variant 2 1.15976990165151e-05 0 0 0 0 0 2 0 0 CACNA1C constrhet 1336 S A 1 CACNA1C:1336:A:S ENST00000347598 12 2743496 rs367895193 G A gnomAD Exomes PASS NA p.Ala1336Thr p.Ala1336Thr c.4006G>A missense_variant 16 9.2781592132121e-05 0 0 14 0 0 2 0 0 CACNA1C constrhet 1336 T A 1 CACNA1C:1336:A:T ENST00000347598 12 2757671 rs756734279 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1363Val p.Met1363Val c.4087A>G missense_variant 3 1.31973710836801e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 1363 V M 1 CACNA1C:1363:M:V ENST00000347598 12 2757672 rs778291516 T C gnomAD Exomes PASS NA p.Met1363Thr p.Met1363Thr c.4088T>C missense_variant 2 9.70506313143567e-06 0 0 0 0 0 0 0 2 CACNA1C constrhet 1363 T M 1 CACNA1C:1363:M:T ENST00000347598 12 2760809 rs749588699 G A gnomAD Exomes PASS NA p.Ala1365Thr p.Ala1365Thr c.4093G>A missense_variant 3 1.45496871817256e-05 0 2 0 1 0 0 0 0 CACNA1C constrhet 1365 T A 1 CACNA1C:1365:A:T ENST00000347598 12 2760822 rs779278894 C A gnomAD Exomes PASS NA p.Ser1369Tyr p.Ser1369Tyr c.4106C>A missense_variant 3 1.45450314172679e-05 0 0 0 1 1 1 0 0 CACNA1C constrhet 1369 Y S 1 CACNA1C:1369:S:Y ENST00000347598 12 2760900 rs777058699 G A gnomAD Exomes PASS NA p.Arg1395Gln p.Arg1395Gln c.4184G>A missense_variant 2 9.72809961574007e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 1395 Q R 1 CACNA1C:1395:R:Q ENST00000347598 12 2774067 rs398123522 C T gnomAD Exomes PASS NA p.Pro1485Ser p.Pro1485Ser c.4453C>T missense_variant 2 9.71458547863763e-06 0 2 0 0 0 0 0 0 CACNA1C constrhet 1485 S P 1 CACNA1C:1485:P:S ENST00000347598 12 2774080 rs727503835 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1489Met p.Thr1489Met c.4466C>T missense_variant 3 1.3179397965101e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 1489 M T 1 CACNA1C:1489:T:M ENST00000347598 12 2774127 rs781315664 A G gnomAD Exomes PASS NA p.Ile1505Val p.Ile1505Val c.4513A>G missense_variant 2 9.64692263168049e-06 0 1 0 0 0 1 0 0 CACNA1C constrhet 1505 V I 1 CACNA1C:1505:I:V ENST00000347598 12 2774139 rs200206894 A G gnomAD Exomes PASS NA p.Met1509Val p.Met1509Val c.4525A>G missense_variant 2 9.65204382027894e-06 1 0 0 0 0 1 0 0 CACNA1C constrhet 1509 V M 1 CACNA1C:1509:M:V ENST00000347598 12 2774852 rs755621352 G A gnomAD Exomes PASS NA p.Ala1550Thr p.Ala1550Thr c.4648G>A missense_variant 2 9.70968055150986e-06 0 0 0 0 0 0 0 2 CACNA1C constrhet 1550 T A 1 CACNA1C:1550:A:T ENST00000347598 12 2778178 rs764831817 C T gnomAD Exomes PASS NA p.Thr1616Met p.Thr1616Met c.4847C>T missense_variant 2 9.65996908809892e-06 0 1 0 0 0 1 0 0 CACNA1C constrhet 1616 M T 1 CACNA1C:1616:T:M ENST00000347598 12 2783799 rs745938574 C T gnomAD Exomes PASS NA p.Pro1655Ser p.Pro1655Ser c.4963C>T missense_variant 2 1.35973022952246e-05 0 0 0 0 0 2 0 0 CACNA1C constrhet 1655 S P 1 CACNA1C:1655:P:S ENST00000347598 12 2786268 rs757629968 G A gnomAD Exomes PASS NA p.Val1661Ile p.Val1661Ile c.4981G>A missense_variant 2 9.76104950804311e-06 0 0 0 0 0 1 0 1 CACNA1C constrhet 1661 I V 1 CACNA1C:1661:V:I ENST00000347598 12 2786332 rs747957522 G A gnomAD Exomes PASS NA p.Arg1682His p.Arg1682His c.5045G>A missense_variant 2 9.73643471233704e-06 0 0 0 0 0 1 0 1 CACNA1C constrhet 1682 H R 1 CACNA1C:1682:R:H ENST00000347598 12 2786358 rs786205764 C T gnomAD Exomes PASS NA p.Pro1691Ser p.Pro1691Ser c.5071C>T missense_variant 3 1.46069275788531e-05 0 0 0 0 0 3 0 0 CACNA1C constrhet 1691 S P 1 CACNA1C:1691:P:S ENST00000347598 12 2786373 rs370432385 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1696Thr p.Ala1696Thr c.5086G>A missense_variant 17 7.50996174337135e-05 0 0 1 0 0 16 0 0 CACNA1C constrhet 1696 T A 1 CACNA1C:1696:A:T ENST00000347598 12 2786374 rs767199033 C T gnomAD Exomes PASS NA p.Ala1696Val p.Ala1696Val c.5087C>T missense_variant 14 6.82660425199922e-05 0 0 0 0 0 1 0 13 CACNA1C constrhet 1696 V A 1 CACNA1C:1696:A:V ENST00000347598 12 2786907 rs1261175505 G T gnomAD Exomes PASS NA p.Leu1703Phe p.Leu1703Phe c.5109G>T missense_variant 4 1.96623966495276e-05 2 1 0 0 0 1 0 0 CACNA1C constrhet 1703 F L 1 CACNA1C:1703:L:F ENST00000347598 12 2786926 rs778011390 G A gnomAD Exomes PASS NA p.Gly1710Arg p.Gly1710Arg c.5128G>A missense_variant 2 9.72961402621158e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 1710 R G 1 CACNA1C:1710:G:R ENST00000347598 12 2786926 rs778011390 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1710Arg p.Gly1710Arg c.5128G>C missense_variant 2 8.81803111001376e-06 0 1 0 0 0 1 0 0 CACNA1C constrhet 1710 R G 1 CACNA1C:1710:G:R ENST00000347598 12 2786958 rs778856101 T G gnomAD Exomes PASS NA p.Asp1720Glu p.Asp1720Glu c.5160T>G missense_variant 2 9.70704148789532e-06 1 0 0 0 0 0 0 1 CACNA1C constrhet 1720 E D 1 CACNA1C:1720:D:E ENST00000347598 12 2786965 rs773930851 G A gnomAD Exomes PASS NA p.Ala1723Thr p.Ala1723Thr c.5167G>A missense_variant 16 7.76631168150356e-05 0 0 0 0 0 15 1 0 CACNA1C constrhet 1723 T A 1 CACNA1C:1723:A:T ENST00000347598 12 2786986 rs746554838 G A gnomAD Exomes PASS NA p.Ala1730Thr p.Ala1730Thr c.5188G>A missense_variant 7 3.39673913043478e-05 0 5 0 0 0 2 0 0 CACNA1C constrhet 1730 T A 1 CACNA1C:1730:A:T ENST00000347598 12 2786989 rs1337057545 A G gnomAD Exomes PASS NA p.Met1731Val p.Met1731Val c.5191A>G missense_variant 2 9.7047805749112e-06 0 0 0 0 1 1 0 0 CACNA1C constrhet 1731 V M 1 CACNA1C:1731:M:V ENST00000347598 12 2786995 rs768415458 G A gnomAD Exomes PASS NA p.Glu1733Lys p.Glu1733Lys c.5197G>A missense_variant 3 1.45577359809003e-05 0 0 0 0 0 2 0 1 CACNA1C constrhet 1733 K E 1 CACNA1C:1733:E:K ENST00000347598 12 2787007 rs368700869 G A gnomAD Exomes PASS NA p.Ala1737Thr p.Ala1737Thr c.5209G>A missense_variant 4 1.9413140754977e-05 0 0 0 0 0 1 0 3 CACNA1C constrhet 1737 T A 1 CACNA1C:1737:A:T ENST00000347598 12 2788616 rs761966966 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1748Ser p.Gly1748Ser c.5242G>A missense_variant 9 5.05300035932447e-05 0 1 0 0 0 7 1 0 CACNA1C constrhet 1748 S G 1 CACNA1C:1748:G:S ENST00000347598 12 2788637 rs147896322 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1755Ile p.Val1755Ile c.5263G>A missense_variant 57 0.000274590282394427 0 8 1 2 0 35 2 9 CACNA1C constrhet 1755 I V 1 CACNA1C:1755:V:I ENST00000347598 12 2788638 rs531161884 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1755Ala p.Val1755Ala c.5264T>C missense_variant 19 9.09909392180526e-05 0 0 0 19 0 0 0 0 CACNA1C constrhet 1755 A V 1 CACNA1C:1755:V:A ENST00000347598 12 2788655 rs747708938 G A gnomAD Exomes PASS NA p.Asp1761Asn p.Asp1761Asn c.5281G>A missense_variant 2 1.01168496130305e-05 0 0 0 1 0 1 0 0 CACNA1C constrhet 1761 N D 1 CACNA1C:1761:D:N ENST00000347598 12 2788656 rs769297492 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1761Gly p.Asp1761Gly c.5282A>G missense_variant 8 3.64474655343654e-05 4 4 0 0 0 0 0 0 CACNA1C constrhet 1761 G D 1 CACNA1C:1761:D:G ENST00000347598 12 2788658 rs533676935 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1762Ser p.Gly1762Ser c.5284G>A missense_variant 19 8.61592040703422e-05 1 0 0 5 0 0 0 13 CACNA1C constrhet 1762 S G 1 CACNA1C:1762:G:S ENST00000347598 12 2788662 rs376706496 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1763Gln p.Arg1763Gln c.5288G>A missense_variant 7 3.16269823340713e-05 0 0 0 0 1 3 0 3 CACNA1C constrhet 1763 Q R 1 CACNA1C:1763:R:Q ENST00000347598 12 2788667 rs200865354 G A gnomAD Exomes PASS NA p.Ala1765Thr p.Ala1765Thr c.5293G>A missense_variant 16 7.95631980427453e-05 11 3 0 1 0 1 0 0 CACNA1C constrhet 1765 T A 1 CACNA1C:1765:A:T ENST00000347598 12 2788668 rs201492706 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1765Gly p.Ala1765Gly c.5294C>G missense_variant 174 0.000780430043865551 0 38 42 0 0 65 10 19 CACNA1C constrhet 1765 G A 1 CACNA1C:1765:A:G ENST00000347598 12 2788678 rs750668170 G T gnomAD Exomes PASS NA p.Gln1768His p.Gln1768His c.5304G>T missense_variant 3 1.47942125040684e-05 0 0 0 0 0 0 0 3 CACNA1C constrhet 1768 H Q 1 CACNA1C:1768:Q:H ENST00000347598 12 2788680 rs554737427 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1769Ser p.Thr1769Ser c.5306C>G missense_variant 13 5.79880812189987e-05 0 0 0 0 0 2 1 10 CACNA1C constrhet 1769 S T 1 CACNA1C:1769:T:S ENST00000347598 12 2788682 rs751493277 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1770Val p.Phe1770Val c.5308T>G missense_variant 6 2.677256704297e-05 0 0 0 5 0 0 1 0 CACNA1C constrhet 1770 V F 1 CACNA1C:1770:F:V ENST00000347598 12 2788705 rs748975371 C G gnomAD Exomes PASS NA p.His1777Gln p.His1777Gln c.5331C>G missense_variant 4 1.96191914931186e-05 0 0 0 0 0 0 0 4 CACNA1C constrhet 1777 Q H 1 CACNA1C:1777:H:Q ENST00000347598 12 2788716 rs201049603 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1781Val p.Ala1781Val c.5342C>T missense_variant 7 3.11174729055718e-05 1 3 0 0 0 1 1 1 CACNA1C constrhet 1781 V A 1 CACNA1C:1781:A:V ENST00000347598 12 2788731 rs1312429867 G A gnomAD Exomes PASS NA p.Gly1786Asp p.Gly1786Asp c.5357G>A missense_variant 2 9.78693835207532e-06 0 2 0 0 0 0 0 0 CACNA1C constrhet 1786 D G 1 CACNA1C:1786:G:D ENST00000347598 12 2788733 rs769917254 G A gnomAD Exomes PASS NA p.Asp1787Asn p.Asp1787Asn c.5359G>A missense_variant 6 2.93550691311878e-05 0 0 0 0 2 3 1 0 CACNA1C constrhet 1787 N D 1 CACNA1C:1787:D:N ENST00000347598 12 2788743 rs375571032 C T gnomAD Exomes PASS NA p.Ser1790Leu p.Ser1790Leu c.5369C>T missense_variant 2 9.78952520802741e-06 0 1 0 0 0 0 0 1 CACNA1C constrhet 1790 L S 1 CACNA1C:1790:S:L ENST00000347598 12 2788754 rs759468937 G A gnomAD Exomes PASS NA p.Glu1794Lys p.Glu1794Lys c.5380G>A missense_variant 5 2.44661486367462e-05 0 0 0 0 0 2 0 3 CACNA1C constrhet 1794 K E 1 CACNA1C:1794:E:K ENST00000347598 12 2788773 rs752694570 C T gnomAD Exomes PASS NA p.Thr1800Ile p.Thr1800Ile c.5399C>T missense_variant 4 1.95738767041506e-05 0 0 0 0 0 3 1 0 CACNA1C constrhet 1800 I T 1 CACNA1C:1800:T:I ENST00000347598 12 2788794 rs756883184 C T gnomAD Exomes PASS NA p.Ser1807Leu p.Ser1807Leu c.5420C>T missense_variant 2 9.79518272913381e-06 1 1 0 0 0 0 0 0 CACNA1C constrhet 1807 L S 1 CACNA1C:1807:S:L ENST00000347598 12 2788802 rs374863121 G C gnomAD Exomes PASS NA p.Gly1810Arg p.Gly1810Arg c.5428G>C missense_variant 20 9.79671809943669e-05 0 0 0 0 0 0 2 18 CACNA1C constrhet 1810 R G 1 CACNA1C:1810:G:R ENST00000347598 12 2788811 rs200937586 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1813Thr p.Ala1813Thr c.5437G>A missense_variant 23 0.000102138695466818 1 1 0 0 17 3 1 0 CACNA1C constrhet 1813 T A 1 CACNA1C:1813:A:T ENST00000347598 12 2788838 rs767425352 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1822Thr p.Ala1822Thr c.5464G>A missense_variant 5 2.23118663429959e-05 1 0 0 0 0 1 0 3 CACNA1C constrhet 1822 T A 1 CACNA1C:1822:A:T ENST00000347598 12 2788847 rs775251529 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1825Cys p.Arg1825Cys c.5473C>T missense_variant 15 6.72706072293479e-05 0 0 0 8 0 0 0 7 CACNA1C constrhet 1825 C R 1 CACNA1C:1825:R:C ENST00000347598 12 2788848 rs189719120 G A gnomAD Exomes PASS NA p.Arg1825His p.Arg1825His c.5474G>A missense_variant 3 1.48769674789491e-05 0 0 0 0 1 0 2 0 CACNA1C constrhet 1825 H R 1 CACNA1C:1825:R:H ENST00000347598 12 2788856 rs371760034 C T gnomAD Exomes PASS NA p.Arg1828Cys p.Arg1828Cys c.5482C>T missense_variant 9 4.48837510846906e-05 0 6 0 0 0 3 0 0 CACNA1C constrhet 1828 C R 1 CACNA1C:1828:R:C ENST00000347598 12 2788857 rs756829999 G A gnomAD Exomes PASS NA p.Arg1828His p.Arg1828His c.5483G>A missense_variant 3 1.5000600024001e-05 0 1 0 1 0 1 0 0 CACNA1C constrhet 1828 H R 1 CACNA1C:1828:R:H ENST00000347598 12 2788862 rs750078053 G A gnomAD Exomes PASS NA p.Ala1830Thr p.Ala1830Thr c.5488G>A missense_variant 4 2.00970688425093e-05 0 0 0 2 0 0 0 2 CACNA1C constrhet 1830 T A 1 CACNA1C:1830:A:T ENST00000347598 12 2788865 rs781633980 G A gnomAD Exomes PASS NA p.Gly1831Ser p.Gly1831Ser c.5491G>A missense_variant 2 1.00797306695965e-05 1 0 0 0 0 0 0 1 CACNA1C constrhet 1831 S G 1 CACNA1C:1831:G:S ENST00000347598 12 2788871 rs1269164283 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1833Ser p.Pro1833Ser c.5497C>T missense_variant 2 9.12175721530996e-06 0 0 0 0 0 2 0 0 CACNA1C constrhet 1833 S P 1 CACNA1C:1833:P:S ENST00000347598 12 2788878 rs192749597 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1835Met p.Thr1835Met c.5504C>T missense_variant 254 0.00116225862542326 219 27 0 0 0 6 2 0 CACNA1C constrhet 1835 M T 1 CACNA1C:1835:T:M ENST00000347598 12 2788881 rs1291945037 T C gnomAD Exomes PASS NA p.Val1836Ala p.Val1836Ala c.5507T>C missense_variant 2 1.02122097179388e-05 0 0 0 2 0 0 0 0 CACNA1C constrhet 1836 A V 1 CACNA1C:1836:V:A ENST00000347598 12 2788893 rs374177870 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1840Gly p.Glu1840Gly c.5519A>G missense_variant 5 2.34752805296023e-05 4 0 0 0 0 1 0 0 CACNA1C constrhet 1840 G E 1 CACNA1C:1840:E:G ENST00000347598 12 2788901 rs111298509 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1843Arg p.Gly1843Arg c.5527G>A missense_variant 997 0.00476965028943214 879 92 0 0 0 13 11 2 CACNA1C constrhet 1843 R G 1 CACNA1C:1843:G:R ENST00000347598 12 2788905 rs199999203 C T gnomAD Exomes PASS NA p.Pro1844Leu p.Pro1844Leu c.5531C>T missense_variant 4 2.1656975170278e-05 1 0 0 0 0 3 0 0 CACNA1C constrhet 1844 L P 1 CACNA1C:1844:P:L ENST00000347598 12 2788922 rs370471203 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1850Val p.Ile1850Val c.5548A>G missense_variant 6 3.03920575422956e-05 0 0 0 0 0 6 0 0 CACNA1C constrhet 1850 V I 1 CACNA1C:1850:I:V ENST00000347598 12 2788925 rs113157354 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1851Trp p.Arg1851Trp c.5551C>T missense_variant 11 5.61837925081467e-05 2 0 0 1 0 7 0 1 CACNA1C constrhet 1851 W R 1 CACNA1C:1851:R:W ENST00000347598 12 2788926 rs201918158 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1851Gln p.Arg1851Gln c.5552G>A missense_variant 3 1.55487141213422e-05 0 0 0 1 0 1 0 1 CACNA1C constrhet 1851 Q R 1 CACNA1C:1851:R:Q ENST00000347598 12 2788926 rs201918158 G C gnomAD Exomes PASS NA p.Arg1851Pro p.Arg1851Pro c.5552G>C missense_variant 35 0.00020383916507478 0 0 0 0 0 1 0 34 CACNA1C constrhet 1851 P R 1 CACNA1C:1851:R:P ENST00000347598 12 2788929 rs756492434 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1852Ala p.Val1852Ala c.5555T>C missense_variant 3 1.57234352561348e-05 3 0 0 0 0 0 0 0 CACNA1C constrhet 1852 A V 1 CACNA1C:1852:V:A ENST00000347598 12 2788941 rs745997744 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1856Val p.Ala1856Val c.5567C>T missense_variant 4 2.28707346079956e-05 0 0 0 0 0 4 0 0 CACNA1C constrhet 1856 V A 1 CACNA1C:1856:A:V ENST00000347598 12 2788941 rs745997744 C G gnomAD Exomes PASS NA p.Ala1856Gly p.Ala1856Gly c.5567C>G missense_variant 2 1.30162573053744e-05 2 0 0 0 0 0 0 0 CACNA1C constrhet 1856 G A 1 CACNA1C:1856:A:G ENST00000347598 12 2788959 rs780210232 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1862Ser p.Asn1862Ser c.5585A>G missense_variant 3 1.86261361943079e-05 0 0 0 0 0 1 0 2 CACNA1C constrhet 1862 S N 1 CACNA1C:1862:N:S ENST00000347598 12 2788962 rs374425919 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1863Thr p.Arg1863Thr c.5588G>C missense_variant 54 0.000338919224251553 0 0 0 0 47 6 1 0 CACNA1C constrhet 1863 T R 1 CACNA1C:1863:R:T ENST00000347598 12 2795398 rs186867242 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1964Arg p.Gln1964Arg c.5891A>G missense_variant segdup 47 0.000206727893310813 0 0 0 45 0 0 2 0 CACNA1C constrhet 1964 R Q 1 CACNA1C:1964:Q:R ENST00000347598 12 2797643 rs770487446 C G gnomAD Exomes PASS NA p.Leu1987Val p.Leu1987Val c.5959C>G missense_variant 5 2.45895995829604e-05 0 0 0 0 0 0 0 5 CACNA1C constrhet 1987 V L 1 CACNA1C:1987:L:V ENST00000347598 12 2797748 rs767660098 C T gnomAD Exomes PASS NA p.Leu2022Phe p.Leu2022Phe c.6064C>T missense_variant 3 1.46111960725105e-05 3 0 0 0 0 0 0 0 CACNA1C constrhet 2022 F L 1 CACNA1C:2022:L:F ENST00000347598 2 165946666 rs145220602 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1999His p.Gln1999His c.5997A>C missense_variant segdup 19 9.86408331516265e-05 16 3 0 0 0 0 0 0 SCN3A constrhet 1999 H Q 1 SCN3A:1999:Q:H ENST00000360093 2 165946692 rs1478038782 T C gnomAD Genomes NA PASS p.Lys1991Glu p.Lys1991Glu c.5971A>G missense_variant segdup 2 9.40733772342427e-05 2 0 0 0 0 0 0 0 SCN3A constrhet 1991 E K 1 SCN3A:1991:K:E ENST00000360093 2 165946698 rs769926645 C T gnomAD Exomes PASS NA p.Glu1989Lys p.Glu1989Lys c.5965G>A missense_variant segdup 5 2.60118614088024e-05 0 0 0 0 0 5 0 0 SCN3A constrhet 1989 K E 1 SCN3A:1989:E:K ENST00000360093 2 165946716 rs774354894 T G gnomAD Exomes PASS NA p.Lys1983Gln p.Lys1983Gln c.5947A>C missense_variant segdup 4 2.007548381916e-05 0 0 0 0 0 0 0 4 SCN3A constrhet 1983 Q K 1 SCN3A:1983:K:Q ENST00000360093 2 165946752 rs544616252 C G gnomAD Exomes PASS NA p.Asp1971His p.Asp1971His c.5911G>C missense_variant segdup 3 1.47024229593037e-05 0 0 0 0 0 0 0 3 SCN3A constrhet 1971 H D 1 SCN3A:1971:D:H ENST00000360093 2 165946781 rs749832883 C T gnomAD Exomes PASS NA p.Ser1961Asn p.Ser1961Asn c.5882G>A missense_variant segdup 2 9.71430236737549e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1961 N S 1 SCN3A:1961:S:N ENST00000360093 2 165946782 rs184544899 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1961Cys p.Ser1961Cys c.5881A>T missense_variant segdup 5 2.20035557746132e-05 1 0 0 0 0 4 0 0 SCN3A constrhet 1961 C S 1 SCN3A:1961:S:C ENST00000360093 2 165946785 rs751266947 C T gnomAD Exomes PASS NA p.Gly1960Arg p.Gly1960Arg c.5878G>A missense_variant segdup 3 1.4558018556621e-05 0 0 0 0 0 0 0 3 SCN3A constrhet 1960 R G 1 SCN3A:1960:G:R ENST00000360093 2 165946820 rs189059609 T G gnomAD Exomes PASS NA p.Lys1948Thr p.Lys1948Thr c.5843A>C missense_variant segdup 18 8.67653863951874e-05 0 0 0 18 0 0 0 0 SCN3A constrhet 1948 T K 1 SCN3A:1948:K:T ENST00000360093 2 165946826 rs745891599 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1946Thr p.Ile1946Thr c.5837T>C missense_variant segdup 3 1.31103982939002e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 1946 T I 1 SCN3A:1946:I:T ENST00000360093 2 165946832 rs772325512 A G gnomAD Exomes PASS NA p.Met1944Thr p.Met1944Thr c.5831T>C missense_variant segdup 7 3.37177152876121e-05 0 0 0 0 0 0 0 7 SCN3A constrhet 1944 T M 1 SCN3A:1944:M:T ENST00000360093 2 165946838 rs149264761 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1942Arg p.Gln1942Arg c.5825A>G missense_variant segdup 9 3.9316075032545e-05 8 0 0 0 0 1 0 0 SCN3A constrhet 1942 R Q 1 SCN3A:1942:Q:R ENST00000360093 2 165946862 rs776798468 C T gnomAD Exomes PASS NA p.Gly1934Glu p.Gly1934Glu c.5801G>A missense_variant segdup 2 9.62936571368044e-06 0 0 0 2 0 0 0 0 SCN3A constrhet 1934 E G 1 SCN3A:1934:G:E ENST00000360093 2 165946879 rs773793799 G T gnomAD Exomes PASS NA p.Asn1928Lys p.Asn1928Lys c.5784C>A missense_variant segdup 4 1.92591023332402e-05 0 0 0 0 0 4 0 0 SCN3A constrhet 1928 K N 1 SCN3A:1928:N:K ENST00000360093 2 165946889 rs765919309 C T gnomAD Exomes PASS NA p.Ser1925Asn p.Ser1925Asn c.5774G>A missense_variant segdup 2 9.62704815449487e-06 0 2 0 0 0 0 0 0 SCN3A constrhet 1925 N S 1 SCN3A:1925:S:N ENST00000360093 2 165946894 rs373422316 T C gnomAD Exomes PASS NA p.Ile1923Met p.Ile1923Met c.5769A>G missense_variant segdup 2 9.62667744854541e-06 1 0 0 0 0 0 0 1 SCN3A constrhet 1923 M I 1 SCN3A:1923:I:M ENST00000360093 2 165946895 rs1295645330 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1923Thr p.Ile1923Thr c.5768T>C missense_variant segdup 2 8.73286175879836e-06 0 1 0 0 0 0 1 0 SCN3A constrhet 1923 T I 1 SCN3A:1923:I:T ENST00000360093 2 165946937 rs376113629 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1909His p.Arg1909His c.5726G>A missense_variant segdup 6 2.61757263764069e-05 3 0 0 0 0 1 0 2 SCN3A constrhet 1909 H R 1 SCN3A:1909:R:H ENST00000360093 2 165946938 rs200752113 G A gnomAD Exomes PASS NA p.Arg1909Cys p.Arg1909Cys c.5725C>T missense_variant segdup 2 9.61704910465273e-06 0 0 0 0 0 1 0 1 SCN3A constrhet 1909 C R 1 SCN3A:1909:R:C ENST00000360093 2 165946959 rs1186732321 C T gnomAD Exomes PASS NA p.Val1902Met p.Val1902Met c.5704G>A missense_variant segdup 2 9.61519970769793e-06 1 0 0 0 0 1 0 0 SCN3A constrhet 1902 M V 1 SCN3A:1902:V:M ENST00000360093 2 165946964 rs747096151 T C gnomAD Exomes PASS NA p.Glu1900Gly p.Glu1900Gly c.5699A>G missense_variant segdup 5 2.40370747841471e-05 1 0 0 0 0 4 0 0 SCN3A constrhet 1900 G E 1 SCN3A:1900:E:G ENST00000360093 2 165946973 rs768691987 C T gnomAD Exomes PASS NA p.Arg1897His p.Arg1897His c.5690G>A missense_variant segdup 6 2.88472633562829e-05 0 0 0 2 1 1 0 2 SCN3A constrhet 1897 H R 1 SCN3A:1897:R:H ENST00000360093 2 165946974 rs781506035 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1897Cys p.Arg1897Cys c.5689C>T missense_variant segdup 3 1.30866071662261e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 1897 C R 1 SCN3A:1897:R:C ENST00000360093 2 165947017 rs770414744 G C gnomAD Exomes PASS NA p.Asn1882Lys p.Asn1882Lys c.5646C>G missense_variant segdup 2 9.61714159317568e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 1882 K N 1 SCN3A:1882:N:K ENST00000360093 2 165947074 rs200922494 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1863Asp p.Glu1863Asp c.5589G>C missense_variant segdup 4 1.74445481425917e-05 0 2 0 0 0 2 0 0 SCN3A constrhet 1863 D E 1 SCN3A:1863:E:D ENST00000360093 2 165947079 rs41265137 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1862Cys p.Gly1862Cys c.5584G>T missense_variant segdup 4932 0.0215115670470009 57 2691 26 5 238 1527 115 273 SCN3A constrhet 1862 C G 1 SCN3A:1862:G:C ENST00000360093 2 165947080 rs146618194 C A gnomAD Exomes PASS NA p.Leu1861Phe p.Leu1861Phe c.5583G>T missense_variant segdup 2 9.61362827944895e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1861 F L 1 SCN3A:1861:L:F ENST00000360093 2 165947080 rs146618194 C G gnomAD Genomes NA PASS p.Leu1861Phe p.Leu1861Phe c.5583G>C missense_variant segdup 2 9.41176470588235e-05 0 0 0 0 0 1 1 0 SCN3A constrhet 1861 F L 1 SCN3A:1861:L:F ENST00000360093 2 165947126 rs748446001 C T gnomAD Exomes PASS NA p.Arg1846Gln p.Arg1846Gln c.5537G>A missense_variant segdup 9 4.32542581414126e-05 1 5 0 0 0 0 0 3 SCN3A constrhet 1846 Q R 1 SCN3A:1846:R:Q ENST00000360093 2 165947135 rs778168402 C T gnomAD Exomes PASS NA p.Ser1843Asn p.Ser1843Asn c.5528G>A missense_variant segdup 2 9.61178019781044e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1843 N S 1 SCN3A:1843:S:N ENST00000360093 2 165947149 rs1254524364 A T gnomAD Exomes PASS NA p.Asp1838Glu p.Asp1838Glu c.5514T>A missense_variant segdup 2 9.61187258501701e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 1838 E D 1 SCN3A:1838:D:E ENST00000360093 2 165947156 rs758945688 G A gnomAD Exomes PASS NA p.Ala1836Val p.Ala1836Val c.5507C>T missense_variant segdup 2 9.61159542872521e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1836 V A 1 SCN3A:1836:A:V ENST00000360093 2 165947164 rs775000071 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1833His p.Gln1833His c.5499G>C missense_variant segdup 8 3.48830111015183e-05 0 0 0 8 0 0 0 0 SCN3A constrhet 1833 H Q 1 SCN3A:1833:Q:H ENST00000360093 2 165947180 rs143406452 T C gnomAD Exomes PASS NA p.Lys1828Arg p.Lys1828Arg c.5483A>G missense_variant segdup 3 1.44175317185698e-05 3 0 0 0 0 0 0 0 SCN3A constrhet 1828 R K 1 SCN3A:1828:K:R ENST00000360093 2 165947202 rs201706536 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1821His p.Asp1821His c.5461G>C missense_variant segdup 58 0.000252948154350708 0 0 0 0 52 4 2 0 SCN3A constrhet 1821 H D 1 SCN3A:1821:D:H ENST00000360093 2 165947210 rs750426459 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1818Asp p.Ala1818Asp c.5453C>A missense_variant segdup 2 8.72189369755961e-06 1 0 0 0 0 1 0 0 SCN3A constrhet 1818 D A 1 SCN3A:1818:A:D ENST00000360093 2 165947238 rs370463938 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1809Lys p.Glu1809Lys c.5425G>A missense_variant segdup 22 9.59366469269748e-05 1 0 0 0 0 21 0 0 SCN3A constrhet 1809 K E 1 SCN3A:1809:E:K ENST00000360093 2 165947239 rs535637931 T C gnomAD Exomes PASS NA p.Ile1808Met p.Ile1808Met c.5424A>G missense_variant segdup 3 1.44183632274064e-05 0 0 0 3 0 0 0 0 SCN3A constrhet 1808 M I 1 SCN3A:1808:I:M ENST00000360093 2 165947252 rs764672375 G A gnomAD Exomes PASS NA p.Ala1804Val p.Ala1804Val c.5411C>T missense_variant segdup 7 3.36412306923365e-05 0 1 0 0 0 5 1 0 SCN3A constrhet 1804 V A 1 SCN3A:1804:A:V ENST00000360093 2 165947256 rs3731762 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1803Asn p.Asp1803Asn c.5407G>A missense_variant segdup 282 0.00122972265829409 0 0 0 232 0 3 6 41 SCN3A constrhet 1803 N D 1 SCN3A:1803:D:N ENST00000360093 2 165947399 rs763009016 A G gnomAD Exomes PASS NA p.Ile1755Thr p.Ile1755Thr c.5264T>C missense_variant segdup 3 1.44172545702697e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 1755 T I 1 SCN3A:1755:I:T ENST00000360093 2 165947636 rs550328522 T G gnomAD Exomes PASS NA p.Asn1676Thr p.Asn1676Thr c.5027A>C missense_variant segdup 6 2.88322921672273e-05 0 0 0 0 0 0 0 6 SCN3A constrhet 1676 T N 1 SCN3A:1676:N:T ENST00000360093 2 165947688 rs761912704 C T gnomAD Exomes PASS NA p.Gly1659Ser p.Gly1659Ser c.4975G>A missense_variant segdup 2 9.61122591186506e-06 0 0 0 0 0 1 0 1 SCN3A constrhet 1659 S G 1 SCN3A:1659:G:S ENST00000360093 2 165947766 rs770743040 G A gnomAD Exomes PASS NA p.Arg1633Cys p.Arg1633Cys c.4897C>T missense_variant segdup 2 9.61205736475835e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1633 C R 1 SCN3A:1633:R:C ENST00000360093 2 165948810 rs573641796 T C gnomAD Exomes PASS NA p.Ile1587Met p.Ile1587Met c.4761A>G missense_variant segdup 4 1.92292900546112e-05 0 0 0 0 2 2 0 0 SCN3A constrhet 1587 M I 1 SCN3A:1587:I:M ENST00000360093 2 165948811 rs758183236 A G gnomAD Exomes PASS NA p.Ile1587Thr p.Ile1587Thr c.4760T>C missense_variant segdup 3 1.44214129138946e-05 0 1 0 0 0 2 0 0 SCN3A constrhet 1587 T I 1 SCN3A:1587:I:T ENST00000360093 2 165948839 rs138241452 C T gnomAD Exomes PASS NA p.Val1578Ile p.Val1578Ile c.4732G>A missense_variant segdup 5 2.40398484527954e-05 1 0 0 0 0 3 1 0 SCN3A constrhet 1578 I V 1 SCN3A:1578:V:I ENST00000360093 2 165948881 rs775646688 C G gnomAD Exomes PASS NA p.Val1564Leu p.Val1564Leu c.4690G>C missense_variant segdup 7 3.36590244653024e-05 0 5 0 0 0 2 0 0 SCN3A constrhet 1564 L V 1 SCN3A:1564:V:L ENST00000360093 2 165948892 rs768990821 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1560Gln p.Arg1560Gln c.4679G>A missense_variant segdup 3 1.30896905597152e-05 1 0 0 0 0 2 0 0 SCN3A constrhet 1560 Q R 1 SCN3A:1560:R:Q ENST00000360093 2 165948911 rs761196437 T C gnomAD Exomes PASS NA p.Met1554Val p.Met1554Val c.4660A>G missense_variant segdup 4 1.92370582690495e-05 0 3 0 0 0 1 0 0 SCN3A constrhet 1554 V M 1 SCN3A:1554:M:V ENST00000360093 2 165948931 rs762536754 G A gnomAD Exomes PASS NA p.Thr1547Met p.Thr1547Met c.4640C>T missense_variant segdup 4 1.92381685263563e-05 0 1 0 0 0 2 0 1 SCN3A constrhet 1547 M T 1 SCN3A:1547:T:M ENST00000360093 2 165948940 rs751272471 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1544Thr p.Met1544Thr c.4631T>C missense_variant segdup 6 2.61780104712042e-05 2 2 0 0 0 1 0 1 SCN3A constrhet 1544 T M 1 SCN3A:1544:M:T ENST00000360093 2 165948980 rs1236809636 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1531Gly p.Ser1531Gly c.4591A>G missense_variant segdup 3 1.30887768101778e-05 3 0 0 0 0 0 0 0 SCN3A constrhet 1531 G S 1 SCN3A:1531:S:G ENST00000360093 2 165950948 rs768888254 T C gnomAD Exomes PASS NA p.Lys1491Arg p.Lys1491Arg c.4472A>G missense_variant segdup 4 1.92248538911104e-05 4 0 0 0 0 0 0 0 SCN3A constrhet 1491 R K 1 SCN3A:1491:K:R ENST00000360093 2 165950976 rs781561214 C T gnomAD Exomes PASS NA p.Asp1482Asn p.Asp1482Asn c.4444G>A missense_variant segdup 3 1.44211356163593e-05 0 0 0 0 0 0 0 3 SCN3A constrhet 1482 N D 1 SCN3A:1482:D:N ENST00000360093 2 165953009 rs1457401377 C T gnomAD Exomes PASS NA p.Asp1421Asn p.Asp1421Asn c.4261G>A missense_variant segdup 2 9.62352760027716e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1421 N D 1 SCN3A:1421:D:N ENST00000360093 2 165953788 rs768382383 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1405Thr p.Ala1405Thr c.4213G>A missense_variant 5 2.18035932321647e-05 0 1 0 1 0 3 0 0 SCN3A constrhet 1405 T A 1 SCN3A:1405:A:T ENST00000360093 2 165953810 rs1055802917 T G gnomAD Exomes PASS NA p.Lys1397Asn p.Lys1397Asn c.4191A>C missense_variant 2 9.61159542872521e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1397 N K 1 SCN3A:1397:K:N ENST00000360093 2 165953815 rs200031995 C T gnomAD Exomes PASS NA p.Val1396Met p.Val1396Met c.4186G>A missense_variant 8 3.84474903400681e-05 0 0 0 2 0 3 0 3 SCN3A constrhet 1396 M V 1 SCN3A:1396:V:M ENST00000360093 2 165953826 rs770870751 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1392Gln p.Arg1392Gln c.4175G>A missense_variant 6 2.61663657534605e-05 2 0 0 1 1 2 0 0 SCN3A constrhet 1392 Q R 1 SCN3A:1392:R:Q ENST00000360093 2 165953848 rs534313591 G C gnomAD Exomes PASS NA p.Gln1385Glu p.Gln1385Glu c.4153C>G missense_variant 49 0.000235468245425188 0 0 0 0 0 0 0 49 SCN3A constrhet 1385 E Q 1 SCN3A:1385:Q:E ENST00000360093 2 165953872 rs754043732 C T gnomAD Exomes PASS NA p.Asp1377Asn p.Asp1377Asn c.4129G>A missense_variant 3 1.44153148304759e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 1377 N D 1 SCN3A:1377:D:N ENST00000360093 2 165953878 rs762231496 T C gnomAD Exomes PASS NA p.Ile1375Val p.Ile1375Val c.4123A>G missense_variant 3 1.4415037767399e-05 0 0 0 0 0 1 0 2 SCN3A constrhet 1375 V I 1 SCN3A:1375:I:V ENST00000360093 2 165953884 rs977221211 A G gnomAD Exomes PASS NA p.Phe1373Leu p.Phe1373Leu c.4117T>C missense_variant 4 1.92209739267489e-05 0 0 0 0 0 0 0 4 SCN3A constrhet 1373 L F 1 SCN3A:1373:F:L ENST00000360093 2 165953887 rs758906955 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1372Val p.Met1372Val c.4114A>G missense_variant 6 2.61588364549545e-05 0 5 0 0 0 1 0 0 SCN3A constrhet 1372 V M 1 SCN3A:1372:M:V ENST00000360093 2 165953895 rs754584273 G A gnomAD Exomes PASS NA p.Thr1369Met p.Thr1369Met c.4106C>T missense_variant 6 2.88309067320167e-05 0 0 0 1 0 2 0 3 SCN3A constrhet 1369 M T 1 SCN3A:1369:T:M ENST00000360093 2 165953900 rs780866749 C T gnomAD Exomes PASS NA p.Met1367Ile p.Met1367Ile c.4101G>A missense_variant 2 9.61020988698393e-06 0 0 0 2 0 0 0 0 SCN3A constrhet 1367 I M 1 SCN3A:1367:M:I ENST00000360093 2 165956828 rs752111359 C T gnomAD Exomes PASS NA p.Arg1317Gln p.Arg1317Gln c.3950G>A missense_variant 2 9.61122591186506e-06 2 0 0 0 0 0 0 0 SCN3A constrhet 1317 Q R 1 SCN3A:1317:R:Q ENST00000360093 2 165956886 rs375050462 C T gnomAD Exomes PASS NA p.Gly1298Ser p.Gly1298Ser c.3892G>A missense_variant 2 9.61224215160428e-06 0 1 0 0 0 1 0 0 SCN3A constrhet 1298 S G 1 SCN3A:1298:G:S ENST00000360093 2 165956901 rs1476802227 C T gnomAD Exomes PASS NA p.Gly1293Ser p.Gly1293Ser c.3877G>A missense_variant 2 9.61325860626977e-06 0 0 0 1 0 0 0 1 SCN3A constrhet 1293 S G 1 SCN3A:1293:G:S ENST00000360093 2 165956922 rs538251957 T G gnomAD Exomes PASS NA p.Ser1286Arg p.Ser1286Arg c.3856A>C missense_variant 5 2.40511809129828e-05 0 1 0 0 0 0 0 4 SCN3A constrhet 1286 R S 1 SCN3A:1286:S:R ENST00000360093 2 165969400 rs751582800 C T gnomAD Exomes PASS NA p.Val1280Ile p.Val1280Ile c.3838G>A missense_variant 2 9.6473879697072e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1280 I V 1 SCN3A:1280:V:I ENST00000360093 2 165969462 rs779302317 C G gnomAD Exomes PASS NA p.Trp1259Ser p.Trp1259Ser c.3776G>C missense_variant 5 2.40516436893297e-05 0 0 5 0 0 0 0 0 SCN3A constrhet 1259 S W 1 SCN3A:1259:W:S ENST00000360093 2 165969502 rs761181797 C G gnomAD Exomes PASS NA p.Val1246Leu p.Val1246Leu c.3736G>C missense_variant 4 1.92609570769572e-05 0 0 0 0 0 0 0 4 SCN3A constrhet 1246 L V 1 SCN3A:1246:V:L ENST00000360093 2 165969505 rs769153045 T G gnomAD Exomes PASS NA p.Lys1245Gln p.Lys1245Gln c.3733A>C missense_variant 14 6.74308833445718e-05 0 11 0 0 0 0 3 0 SCN3A constrhet 1245 Q K 1 SCN3A:1245:K:Q ENST00000360093 2 165969549 rs146060800 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1230Thr p.Ile1230Thr c.3689T>C missense_variant 11 4.80958418958506e-05 8 1 0 0 0 1 1 0 SCN3A constrhet 1230 T I 1 SCN3A:1230:I:T ENST00000360093 2 165969555 rs766254817 A G gnomAD Exomes PASS NA p.Ile1228Thr p.Ile1228Thr c.3683T>C missense_variant 3 1.44773670495126e-05 0 0 0 0 0 2 0 1 SCN3A constrhet 1228 T I 1 SCN3A:1228:I:T ENST00000360093 2 165969556 rs769710212 T C gnomAD Exomes PASS NA p.Ile1228Val p.Ile1228Val c.3682A>G missense_variant 10 4.82606849156403e-05 0 0 0 0 0 10 0 0 SCN3A constrhet 1228 V I 1 SCN3A:1228:I:V ENST00000360093 2 165970334 rs769359817 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1221Cys p.Gly1221Cys c.3661G>T missense_variant 4 1.74442438356403e-05 4 0 0 0 0 0 0 0 SCN3A constrhet 1221 C G 1 SCN3A:1221:G:C ENST00000360093 2 165970377 rs1384651333 G T gnomAD Exomes PASS NA p.Asn1206Lys p.Asn1206Lys c.3618C>A missense_variant segdup 2 9.61150304684647e-06 0 2 0 0 0 0 0 0 SCN3A constrhet 1206 K N 1 SCN3A:1206:N:K ENST00000360093 2 165970402 rs1267526438 G C gnomAD Exomes PASS NA p.Thr1198Ser p.Thr1198Ser c.3593C>G missense_variant segdup 2 9.61214975729322e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 1198 S T 1 SCN3A:1198:T:S ENST00000360093 2 165970406 rs530839611 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1197Glu p.Lys1197Glu c.3589A>G missense_variant segdup 6 2.61620301735415e-05 0 1 0 0 0 5 0 0 SCN3A constrhet 1197 E K 1 SCN3A:1197:K:E ENST00000360093 2 165970408 rs767542222 C T gnomAD Exomes PASS NA p.Arg1196Gln p.Arg1196Gln c.3587G>A missense_variant segdup 3 1.44182246359398e-05 2 0 0 0 0 1 0 0 SCN3A constrhet 1196 Q R 1 SCN3A:1196:R:Q ENST00000360093 2 165970451 rs1477240711 C A gnomAD Exomes PASS NA p.Val1182Leu p.Val1182Leu c.3544G>T missense_variant 2 9.63530375295081e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1182 L V 1 SCN3A:1182:V:L ENST00000360093 2 165970470 rs758604346 T G gnomAD Exomes PASS NA p.Lys1175Asn p.Lys1175Asn c.3525A>C missense_variant 4 1.95742598482995e-05 0 0 0 0 0 3 0 1 SCN3A constrhet 1175 N K 1 SCN3A:1175:K:N ENST00000360093 2 165971985 rs563038965 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1165Leu p.Pro1165Leu c.3494C>T missense_variant 3 1.30882057814968e-05 0 0 0 0 0 2 0 1 SCN3A constrhet 1165 L P 1 SCN3A:1165:P:L ENST00000360093 2 165971985 rs563038965 G T gnomAD Exomes PASS NA p.Pro1165Gln p.Pro1165Gln c.3494C>A missense_variant 3 1.44173931430878e-05 0 0 0 0 0 0 0 3 SCN3A constrhet 1165 Q P 1 SCN3A:1165:P:Q ENST00000360093 2 165972001 rs377632429 C T gnomAD Exomes PASS NA p.Glu1160Lys p.Glu1160Lys c.3478G>A missense_variant 5 2.40294504945261e-05 0 5 0 0 0 0 0 0 SCN3A constrhet 1160 K E 1 SCN3A:1160:E:K ENST00000360093 2 165972019 rs1433523136 G T gnomAD Exomes PASS NA p.Gln1154Lys p.Gln1154Lys c.3460C>A missense_variant 2 9.61187258501701e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1154 K Q 1 SCN3A:1154:Q:K ENST00000360093 2 165972024 rs1375842957 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1152Asp p.Gly1152Asp c.3455G>A missense_variant 3 1.30832969908417e-05 0 1 0 2 0 0 0 0 SCN3A constrhet 1152 D G 1 SCN3A:1152:G:D ENST00000360093 2 165972030 rs775381308 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1150Gln p.Arg1150Gln c.3449G>A missense_variant 12 5.23368399016067e-05 0 0 0 0 0 11 1 0 SCN3A constrhet 1150 Q R 1 SCN3A:1150:R:Q ENST00000360093 2 165972048 rs768613952 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1144Gly p.Val1144Gly c.3431T>G missense_variant 17 7.41425630647919e-05 0 0 0 0 17 0 0 0 SCN3A constrhet 1144 G V 1 SCN3A:1144:V:G ENST00000360093 2 165972075 rs144155311 G A gnomAD Exomes PASS NA p.Ala1135Val p.Ala1135Val c.3404C>T missense_variant 2 9.61390555299185e-06 2 0 0 0 0 0 0 0 SCN3A constrhet 1135 V A 1 SCN3A:1135:A:V ENST00000360093 2 165984147 rs774375940 G T gnomAD Exomes PASS NA p.Ser1129Arg p.Ser1129Arg c.3387C>A missense_variant segdup 23 0.000110883986423943 0 23 0 0 0 0 0 0 SCN3A constrhet 1129 R S 1 SCN3A:1129:S:R ENST00000360093 2 165984184 rs767706892 G T gnomAD Exomes PASS NA p.Thr1117Asn p.Thr1117Asn c.3350C>A missense_variant segdup 2 9.61399798106042e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1117 N T 1 SCN3A:1117:T:N ENST00000360093 2 165984191 rs761099837 A T gnomAD Exomes PASS NA p.Leu1115Ile p.Leu1115Ile c.3343T>A missense_variant segdup 2 9.61335102189921e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 1115 I L 1 SCN3A:1115:L:I ENST00000360093 2 165984214 rs12474273 A G gnomAD Exomes PASS NA p.Val1107Ala p.Val1107Ala c.3320T>C missense_variant segdup 32 0.000153788483164967 0 32 0 0 0 0 0 0 SCN3A constrhet 1107 A V 1 SCN3A:1107:V:A ENST00000360093 2 165984266 rs780784373 A G gnomAD Exomes PASS NA p.Tyr1090His p.Tyr1090His c.3268T>C missense_variant segdup 3 1.44173931430878e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 1090 H Y 1 SCN3A:1090:Y:H ENST00000360093 2 165984278 rs149911613 C T gnomAD Exomes PASS NA p.Asp1086Asn p.Asp1086Asn c.3256G>A missense_variant segdup 5 2.40292195309496e-05 0 0 0 0 0 5 0 0 SCN3A constrhet 1086 N D 1 SCN3A:1086:D:N ENST00000360093 2 165984281 rs144957412 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1085Val p.Ile1085Val c.3253A>G missense_variant segdup 6 2.61613457396248e-05 0 0 0 0 0 6 0 0 SCN3A constrhet 1085 V I 1 SCN3A:1085:I:V ENST00000360093 2 165984283 rs377559620 A G gnomAD Exomes PASS NA p.Val1084Ala p.Val1084Ala c.3251T>C missense_variant segdup 5 2.40280647796626e-05 4 1 0 0 0 0 0 0 SCN3A constrhet 1084 A V 1 SCN3A:1084:V:A ENST00000360093 2 165984284 rs140990288 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1084Ile p.Val1084Ile c.3250G>A missense_variant segdup 1225 0.00534136791342188 21 172 0 0 31 791 44 166 SCN3A constrhet 1084 I V 1 SCN3A:1084:V:I ENST00000360093 2 165984298 rs775682057 C T gnomAD Exomes PASS NA p.Ser1079Asn p.Ser1079Asn c.3236G>A missense_variant segdup 2 9.61094879286483e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1079 N S 1 SCN3A:1079:S:N ENST00000360093 2 165984301 rs760738000 C G gnomAD Exomes PASS NA p.Ser1078Thr p.Ser1078Thr c.3233G>C missense_variant segdup 2 9.61122591186506e-06 0 0 0 2 0 0 0 0 SCN3A constrhet 1078 T S 1 SCN3A:1078:S:T ENST00000360093 2 165984314 rs765819507 C T gnomAD Exomes PASS NA p.Val1074Ile p.Val1074Ile c.3220G>A missense_variant segdup 8 3.84445341483575e-05 0 0 0 0 0 0 0 8 SCN3A constrhet 1074 I V 1 SCN3A:1074:V:I ENST00000360093 2 165984316 rs751031460 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1073Ala p.Gly1073Ala c.3218G>C missense_variant segdup 3 1.30796463263633e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 1073 A G 1 SCN3A:1073:G:A ENST00000360093 2 165984335 rs1000317389 C T gnomAD Exomes PASS NA p.Gly1067Arg p.Gly1067Arg c.3199G>A missense_variant segdup 4 1.92220823281786e-05 0 0 0 0 0 4 0 0 SCN3A constrhet 1067 R G 1 SCN3A:1067:G:R ENST00000360093 2 165984356 rs751094000 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1060Gln p.Glu1060Gln c.3178G>C missense_variant segdup 3 1.30810150867707e-05 0 3 0 0 0 0 0 0 SCN3A constrhet 1060 Q E 1 SCN3A:1060:E:Q ENST00000360093 2 165984387 rs1458392843 C T gnomAD Exomes PASS NA p.Met1049Ile p.Met1049Ile c.3147G>A missense_variant segdup 2 9.61270414980438e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1049 I M 1 SCN3A:1049:M:I ENST00000360093 2 165984392 rs148308241 A G gnomAD Exomes PASS NA p.Cys1048Arg p.Cys1048Arg c.3142T>C missense_variant segdup 3 1.44182246359398e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 1048 R C 1 SCN3A:1048:C:R ENST00000360093 2 165984407 rs150421779 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1043Asp p.Asn1043Asp c.3127A>G missense_variant segdup 2 8.7211330496058e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1043 D N 1 SCN3A:1043:N:D ENST00000360093 2 165984413 rs768733111 C T gnomAD Exomes PASS NA p.Glu1041Lys p.Glu1041Lys c.3121G>A missense_variant segdup 2 9.61362827944895e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 1041 K E 1 SCN3A:1041:E:K ENST00000360093 2 165984416 rs776963443 G A gnomAD Exomes PASS NA p.His1040Tyr p.His1040Tyr c.3118C>T missense_variant segdup 2 9.61372070218616e-06 0 2 0 0 0 0 0 0 SCN3A constrhet 1040 Y H 1 SCN3A:1040:H:Y ENST00000360093 2 165984424 rs188214239 A G gnomAD Exomes PASS NA p.Ile1037Thr p.Ile1037Thr c.3110T>C missense_variant segdup 13 6.24867816423449e-05 0 0 0 10 0 3 0 0 SCN3A constrhet 1037 T I 1 SCN3A:1037:I:T ENST00000360093 2 165984434 rs770351039 G T gnomAD Exomes PASS NA p.Pro1034Thr p.Pro1034Thr c.3100C>A missense_variant segdup 4 1.92315089041886e-05 0 0 0 0 0 4 0 0 SCN3A constrhet 1034 T P 1 SCN3A:1034:P:T ENST00000360093 2 165984439 rs147300771 C G gnomAD Exomes PASS NA p.Arg1032Thr p.Arg1032Thr c.3095G>C missense_variant segdup 3 1.44261286041278e-05 0 0 0 0 0 2 1 0 SCN3A constrhet 1032 T R 1 SCN3A:1032:R:T ENST00000360093 2 165984448 rs750993591 G T gnomAD Exomes PASS NA p.Ala1029Asp p.Ala1029Asp c.3086C>A missense_variant segdup 2 9.61658668872071e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 1029 D A 1 SCN3A:1029:A:D ENST00000360093 2 165984466 rs202046674 C T gnomAD Exomes PASS NA p.Arg1023Gln p.Arg1023Gln c.3068G>A missense_variant segdup 8 3.84774474061391e-05 0 0 2 5 0 1 0 0 SCN3A constrhet 1023 Q R 1 SCN3A:1023:R:Q ENST00000360093 2 165984467 rs777474317 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1023Trp p.Arg1023Trp c.3067C>T missense_variant segdup 10 4.3645251396648e-05 2 6 0 1 0 0 0 1 SCN3A constrhet 1023 W R 1 SCN3A:1023:R:W ENST00000360093 2 165984481 rs747040733 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1018Ala p.Val1018Ala c.3053T>C missense_variant segdup 20 8.72646037314345e-05 0 0 0 20 0 0 0 0 SCN3A constrhet 1018 A V 1 SCN3A:1018:V:A ENST00000360093 2 165984540 rs781269284 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp998Glu p.Asp998Glu c.2994C>A missense_variant segdup 16 6.99178465303269e-05 0 0 0 16 0 0 0 0 SCN3A constrhet 998 E D 1 SCN3A:998:D:E ENST00000360093 2 165986509 rs772467017 C T gnomAD Exomes PASS NA p.Ala955Thr p.Ala955Thr c.2863G>A missense_variant segdup 2 9.60919407689277e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 955 T A 1 SCN3A:955:A:T ENST00000360093 2 165986592 rs761594098 T C gnomAD Exomes PASS NA p.Asn927Ser p.Asn927Ser c.2780A>G missense_variant segdup 3 1.44169774326247e-05 0 0 0 0 0 0 0 3 SCN3A constrhet 927 S N 1 SCN3A:927:N:S ENST00000360093 2 165986613 rs371456512 G A gnomAD Exomes PASS NA p.Thr920Met p.Thr920Met c.2759C>T missense_variant segdup 6 2.88328463785945e-05 2 1 0 0 0 0 0 3 SCN3A constrhet 920 M T 1 SCN3A:920:T:M ENST00000360093 2 165986623 rs200738468 C T gnomAD Exomes PASS NA p.Asp917Asn p.Asp917Asn c.2749G>A missense_variant segdup 3 1.44154533660084e-05 0 3 0 0 0 0 0 0 SCN3A constrhet 917 N D 1 SCN3A:917:D:N ENST00000360093 2 165986625 rs766258051 T C gnomAD Exomes PASS NA p.Asn916Ser p.Asn916Ser c.2747A>G missense_variant segdup 2 9.61030224400557e-06 1 0 0 0 0 0 0 1 SCN3A constrhet 916 S N 1 SCN3A:916:N:S ENST00000360093 2 165986674 rs749586926 C T gnomAD Exomes PASS NA p.Gly900Ser p.Gly900Ser c.2698G>A missense_variant segdup 4 1.92187575073272e-05 0 0 0 0 0 4 0 0 SCN3A constrhet 900 S G 1 SCN3A:900:G:S ENST00000360093 2 165986728 rs746512784 G C gnomAD Exomes PASS NA p.Leu882Val p.Leu882Val c.2644C>G missense_variant segdup 2 9.60965578212988e-06 0 0 0 0 2 0 0 0 SCN3A constrhet 882 V L 1 SCN3A:882:L:V ENST00000360093 2 165987870 rs377309807 A G gnomAD Exomes PASS NA p.Tyr817His p.Tyr817His c.2449T>C missense_variant segdup 12 5.80293241518047e-05 0 0 0 0 0 12 0 0 SCN3A constrhet 817 H Y 1 SCN3A:817:Y:H ENST00000360093 2 165987876 rs755440336 C T gnomAD Exomes PASS NA p.Asp815Asn p.Asp815Asn c.2443G>A missense_variant segdup 3 1.45351654101824e-05 3 0 0 0 0 0 0 0 SCN3A constrhet 815 N D 1 SCN3A:815:D:N ENST00000360093 2 165994399 rs756647854 A G gnomAD Exomes PASS NA p.Val794Ala p.Val794Ala c.2381T>C missense_variant segdup 3 1.44227995615469e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 794 A V 1 SCN3A:794:V:A ENST00000360093 2 165994424 rs756928766 C G gnomAD Exomes PASS NA p.Glu786Gln p.Glu786Gln c.2356G>C missense_variant segdup 2 9.61482991365883e-06 0 2 0 0 0 0 0 0 SCN3A constrhet 786 Q E 1 SCN3A:786:E:Q ENST00000360093 2 165994430 rs778744191 T G gnomAD Exomes PASS NA p.Met784Leu p.Met784Leu c.2350A>C missense_variant segdup 5 2.40336085982638e-05 0 5 0 0 0 0 0 0 SCN3A constrhet 784 L M 1 SCN3A:784:M:L ENST00000360093 2 165994451 rs746866750 T A gnomAD Exomes PASS NA p.Met777Leu p.Met777Leu c.2329A>T missense_variant segdup 4 1.92281808218124e-05 0 4 0 0 0 0 0 0 SCN3A constrhet 777 L M 1 SCN3A:777:M:L ENST00000360093 2 165994495 rs374167456 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Val762Ala p.Val762Ala c.2285T>C missense_variant segdup 3 1.308386759126e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 762 A V 1 SCN3A:762:V:A ENST00000360093 2 165994528 rs753117449 T C gnomAD Exomes PASS NA p.His751Arg p.His751Arg c.2252A>G missense_variant segdup 4 1.92285505518594e-05 0 0 0 0 0 4 0 0 SCN3A constrhet 751 R H 1 SCN3A:751:H:R ENST00000360093 2 165994534 rs764690975 A G gnomAD Exomes PASS NA p.Val749Ala p.Val749Ala c.2246T>C missense_variant segdup 3 1.44225222106842e-05 0 0 0 1 0 0 1 1 SCN3A constrhet 749 A V 1 SCN3A:749:V:A ENST00000360093 2 165994547 rs1271683392 C T gnomAD Exomes PASS NA p.Ala745Thr p.Ala745Thr c.2233G>A missense_variant segdup 3 1.44250187525244e-05 2 0 0 0 0 1 0 0 SCN3A constrhet 745 T A 1 SCN3A:745:A:T ENST00000360093 2 165994576 rs1169251444 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn735Ser p.Asn735Ser c.2204A>G missense_variant segdup 2 8.72630807358023e-06 1 0 0 0 0 1 0 0 SCN3A constrhet 735 S N 1 SCN3A:735:N:S ENST00000360093 2 165994600 rs745450559 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro727Leu p.Pro727Leu c.2180C>T missense_variant segdup 3 1.31019242359395e-05 0 0 0 1 0 2 0 0 SCN3A constrhet 727 L P 1 SCN3A:727:P:L ENST00000360093 2 165994620 rs201833165 T G gnomAD Exomes PASS NA p.Glu720Asp p.Glu720Asp c.2160A>C missense_variant segdup 19 9.16988416988417e-05 0 0 16 0 0 3 0 0 SCN3A constrhet 720 D E 1 SCN3A:720:E:D ENST00000360093 2 165996022 rs751290489 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val706Met p.Val706Met c.2116G>A missense_variant 3 1.30826123360313e-05 0 0 0 0 0 2 1 0 SCN3A constrhet 706 M V 1 SCN3A:706:V:M ENST00000360093 2 165996030 rs1206384329 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln703Arg p.Gln703Arg c.2108A>G missense_variant 3 1.30828405463394e-05 0 0 0 3 0 0 0 0 SCN3A constrhet 703 R Q 1 SCN3A:703:Q:R ENST00000360093 2 165996060 rs1244798421 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met693Thr p.Met693Thr c.2078T>C missense_variant 3 1.30853513853025e-05 0 0 0 0 0 2 1 0 SCN3A constrhet 693 T M 1 SCN3A:693:M:T ENST00000360093 2 165996061 rs138331141 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met693Val p.Met693Val c.2077A>G missense_variant 85 0.000370719282636381 0 0 0 1 0 12 2 70 SCN3A constrhet 693 V M 1 SCN3A:693:M:V ENST00000360093 2 165996068 rs769734235 C G gnomAD Exomes PASS NA p.Gln690His p.Gln690His c.2070G>C missense_variant 2 9.61455258679537e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 690 H Q 1 SCN3A:690:Q:H ENST00000360093 2 165996102 rs139860168 G A gnomAD Exomes PASS NA p.Thr679Met p.Thr679Met c.2036C>T missense_variant 8 3.84582103471815e-05 4 1 0 0 0 2 0 1 SCN3A constrhet 679 M T 1 SCN3A:679:T:M ENST00000360093 2 165996111 rs762573176 G A gnomAD Exomes PASS NA p.Thr676Ile p.Thr676Ile c.2027C>T missense_variant 2 9.61519970769793e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 676 I T 1 SCN3A:676:T:I ENST00000360093 2 165996117 rs751294193 C T gnomAD Exomes PASS NA p.Gly674Asp p.Gly674Asp c.2021G>A missense_variant 8 3.84622781207331e-05 0 8 0 0 0 0 0 0 SCN3A constrhet 674 D G 1 SCN3A:674:G:D ENST00000360093 2 165997166 rs762367543 G T gnomAD Exomes PASS NA p.Pro672Thr p.Pro672Thr c.2014C>A missense_variant 7 3.36515811435769e-05 0 0 0 0 0 0 0 7 SCN3A constrhet 672 T P 1 SCN3A:672:P:T ENST00000360093 2 165997172 rs200440339 G A gnomAD Exomes PASS NA p.Leu670Phe p.Leu670Phe c.2008C>T missense_variant 44 0.000211507955583329 0 0 0 0 0 0 0 44 SCN3A constrhet 670 F L 1 SCN3A:670:L:F ENST00000360093 2 165997177 rs199975643 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly668Glu p.Gly668Glu c.2003G>A missense_variant 46 0.000200621052998849 0 0 38 0 0 5 3 0 SCN3A constrhet 668 E G 1 SCN3A:668:G:E ENST00000360093 2 165997214 rs764003738 A C gnomAD Exomes PASS NA p.Leu656Val p.Leu656Val c.1966T>G missense_variant 2 9.61335102189921e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 656 V L 1 SCN3A:656:L:V ENST00000360093 2 165997253 rs1490499639 T C gnomAD Exomes PASS NA p.Lys643Glu p.Lys643Glu c.1927A>G missense_variant 2 9.61325860626977e-06 0 0 0 0 0 1 0 1 SCN3A constrhet 643 E K 1 SCN3A:643:K:E ENST00000360093 2 165997256 rs112457070 C A gnomAD Exomes PASS NA p.Gly642Trp p.Gly642Trp c.1924G>T missense_variant 5 2.40329154810428e-05 0 1 0 0 0 4 0 0 SCN3A constrhet 642 W G 1 SCN3A:642:G:W ENST00000360093 2 165997282 rs773717117 C G gnomAD Exomes PASS NA p.Arg633Thr p.Arg633Thr c.1898G>C missense_variant 5 2.40326844508532e-05 0 0 0 0 0 0 0 5 SCN3A constrhet 633 T R 1 SCN3A:633:R:T ENST00000360093 2 165997300 rs749744297 T C gnomAD Exomes PASS NA p.Gln627Arg p.Gln627Arg c.1880A>G missense_variant 2 9.61335102189921e-06 1 0 0 0 0 1 0 0 SCN3A constrhet 627 R Q 1 SCN3A:627:Q:R ENST00000360093 2 165997318 rs965476894 C T gnomAD Exomes PASS NA p.Arg621His p.Arg621His c.1862G>A missense_variant 2 9.61381312670044e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 621 H R 1 SCN3A:621:R:H ENST00000360093 2 165997321 rs369720053 C G gnomAD Exomes PASS NA p.Arg620Pro p.Arg620Pro c.1859G>C missense_variant 2 9.61335102189921e-06 2 0 0 0 0 0 0 0 SCN3A constrhet 620 P R 1 SCN3A:620:R:P ENST00000360093 2 165997325 rs577018955 C T gnomAD Exomes PASS NA p.Glu619Lys p.Glu619Lys c.1855G>A missense_variant 3 1.44196106705119e-05 1 1 0 0 0 1 0 0 SCN3A constrhet 619 K E 1 SCN3A:619:E:K ENST00000360093 2 165997340 rs868728039 G C gnomAD Exomes PASS NA p.Pro614Ala p.Pro614Ala c.1840C>G missense_variant 3 1.44219675409584e-05 0 0 0 0 0 0 0 3 SCN3A constrhet 614 A P 1 SCN3A:614:P:A ENST00000360093 2 165997367 rs755167692 C T gnomAD Exomes PASS NA p.Glu605Lys p.Glu605Lys c.1813G>A missense_variant 5 2.4036612568264e-05 1 0 0 0 0 4 0 0 SCN3A constrhet 605 K E 1 SCN3A:605:E:K ENST00000360093 2 165997432 rs774769014 C T gnomAD Exomes PASS NA p.Arg583Gln p.Arg583Gln c.1748G>A missense_variant 5 2.4033377554748e-05 0 1 0 2 0 0 0 2 SCN3A constrhet 583 Q R 1 SCN3A:583:R:Q ENST00000360093 2 165997448 rs774982624 A G gnomAD Exomes PASS NA p.Phe578Leu p.Phe578Leu c.1732T>C missense_variant 2 9.61307378034126e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 578 L F 1 SCN3A:578:F:L ENST00000360093 2 165997468 rs765013479 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg571His p.Arg571His c.1712G>A missense_variant 27 0.000117789740949822 2 1 0 1 0 20 3 0 SCN3A constrhet 571 H R 1 SCN3A:571:R:H ENST00000360093 2 165997469 rs776460316 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg571Cys p.Arg571Cys c.1711C>T missense_variant 3 1.30882057814968e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 571 C R 1 SCN3A:571:R:C ENST00000360093 2 165997493 rs202004044 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg563Cys p.Arg563Cys c.1687C>T missense_variant 38 0.000166242311293103 0 4 12 0 0 21 0 1 SCN3A constrhet 563 C R 1 SCN3A:563:R:C ENST00000360093 2 166003301 rs147678484 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser540Phe p.Ser540Phe c.1619C>T missense_variant 346 0.00150870338716992 3 32 0 0 78 136 14 83 SCN3A constrhet 540 F S 1 SCN3A:540:S:F ENST00000360093 2 166003318 rs141748745 T G gnomAD Exomes PASS NA p.Arg534Ser p.Arg534Ser c.1602A>C missense_variant 24 0.000115324735233629 0 1 0 22 0 0 1 0 SCN3A constrhet 534 S R 1 SCN3A:534:R:S ENST00000360093 2 166003322 rs754513062 T C gnomAD Exomes PASS NA p.Lys533Arg p.Lys533Arg c.1598A>G missense_variant 2 9.61076405574243e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 533 R K 1 SCN3A:533:K:R ENST00000360093 2 166003325 rs551260434 A G gnomAD Exomes PASS NA p.Val532Ala p.Val532Ala c.1595T>C missense_variant 4 1.92213433796888e-05 3 1 0 0 0 0 0 0 SCN3A constrhet 532 A V 1 SCN3A:532:V:A ENST00000360093 2 166003341 rs749133387 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu527Lys p.Glu527Lys c.1579G>A missense_variant 8 3.48811859603226e-05 0 1 0 0 0 0 1 6 SCN3A constrhet 527 K E 1 SCN3A:527:E:K ENST00000360093 2 166003343 rs1403176076 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser526Phe p.Ser526Phe c.1577C>T missense_variant 2 8.71961215165149e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 526 F S 1 SCN3A:526:S:F ENST00000360093 2 166003354 rs760800398 G C gnomAD Exomes PASS NA p.Ser522Arg p.Ser522Arg c.1566C>G missense_variant 3 1.44154533660084e-05 0 3 0 0 0 0 0 0 SCN3A constrhet 522 R S 1 SCN3A:522:S:R ENST00000360093 2 166003361 rs764009631 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg520Thr p.Arg520Thr c.1559G>C missense_variant 16 6.9756288965427e-05 0 0 0 16 0 0 0 0 SCN3A constrhet 520 T R 1 SCN3A:520:R:T ENST00000360093 2 166003370 rs776782913 T C gnomAD Exomes PASS NA p.Lys517Arg p.Lys517Arg c.1550A>G missense_variant 4 1.92196809532962e-05 0 0 0 0 0 4 0 0 SCN3A constrhet 517 R K 1 SCN3A:517:K:R ENST00000360093 2 166003392 rs200940443 C T gnomAD Exomes PASS NA p.Glu510Lys p.Glu510Lys c.1528G>A missense_variant 12 5.76601510695958e-05 0 12 0 0 0 0 0 0 SCN3A constrhet 510 K E 1 SCN3A:510:E:K ENST00000360093 2 166003397 rs143763998 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln508Arg p.Gln508Arg c.1523A>G missense_variant 26 0.000113352981183405 0 5 0 0 0 21 0 0 SCN3A constrhet 508 R Q 1 SCN3A:508:Q:R ENST00000360093 2 166003399 rs755522851 T G gnomAD Exomes PASS NA p.Arg507Ser p.Arg507Ser c.1521A>C missense_variant 4 1.92209739267489e-05 0 4 0 0 0 0 0 0 SCN3A constrhet 507 S R 1 SCN3A:507:R:S ENST00000360093 2 166003400 rs780520734 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg507Lys p.Arg507Lys c.1520G>A missense_variant 14 6.10415431302103e-05 0 0 9 1 0 3 0 1 SCN3A constrhet 507 K R 1 SCN3A:507:R:K ENST00000360093 2 166003415 rs747726149 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg502Gln p.Arg502Gln c.1505G>A missense_variant 6 2.6160205096008e-05 0 0 0 0 0 6 0 0 SCN3A constrhet 502 Q R 1 SCN3A:502:R:Q ENST00000360093 2 166003472 rs142029708 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu483Ala p.Glu483Ala c.1448A>C missense_variant 3 1.30812432413577e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 483 A E 1 SCN3A:483:E:A ENST00000360093 2 166003478 rs772065512 A G gnomAD Exomes PASS NA p.Leu481Pro p.Leu481Pro c.1442T>C missense_variant 7 3.36415540475595e-05 0 0 0 0 0 0 0 7 SCN3A constrhet 481 P L 1 SCN3A:481:L:P ENST00000360093 2 166003520 rs761990576 G A gnomAD Exomes PASS NA p.Ala467Val p.Ala467Val c.1400C>T missense_variant 15 7.2425980647778e-05 0 0 0 0 0 15 0 0 SCN3A constrhet 467 V A 1 SCN3A:467:A:V ENST00000360093 2 166003532 rs112943141 G A gnomAD Exomes PASS NA p.Ala463Val p.Ala463Val c.1388C>T missense_variant 7 3.37034290831704e-05 0 1 0 2 0 3 0 1 SCN3A constrhet 463 V A 1 SCN3A:463:A:V ENST00000360093 2 166010994 rs777791237 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu450Lys p.Glu450Lys c.1348G>A missense_variant segdup 5 2.18003610139784e-05 1 2 0 0 0 1 0 1 SCN3A constrhet 450 K E 1 SCN3A:450:E:K ENST00000360093 2 166011012 rs771117930 C T gnomAD Exomes PASS NA p.Glu444Lys p.Glu444Lys c.1330G>A missense_variant segdup 2 9.61039460280239e-06 0 0 0 1 0 1 0 0 SCN3A constrhet 444 K E 1 SCN3A:444:E:K ENST00000360093 2 166011123 rs149918908 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val407Ile p.Val407Ile c.1219G>A missense_variant segdup 2 8.72585120678522e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 407 I V 1 SCN3A:407:V:I ENST00000360093 2 166011137 rs750026037 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile402Thr p.Ile402Thr c.1205T>C missense_variant segdup 9 3.92721560413667e-05 0 0 0 9 0 0 0 0 SCN3A constrhet 402 T I 1 SCN3A:402:I:T ENST00000360093 2 166012312 rs752328633 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg378Gln p.Arg378Gln c.1133G>A missense_variant segdup 4 1.7440136730672e-05 0 1 0 1 1 0 1 0 SCN3A constrhet 378 Q R 1 SCN3A:378:R:Q ENST00000360093 2 166012321 rs148689026 G C gnomAD Exomes PASS NA p.Ser375Cys p.Ser375Cys c.1124C>G missense_variant segdup 2 9.61020988698393e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 375 C S 1 SCN3A:375:S:C ENST00000360093 2 166012350 rs762422656 G C gnomAD Exomes PASS NA p.Ser365Arg p.Ser365Arg c.1095C>G missense_variant segdup 2 9.61002517826597e-06 0 2 0 0 0 0 0 0 SCN3A constrhet 365 R S 1 SCN3A:365:S:R ENST00000360093 2 166012375 rs774195502 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg357Gln p.Arg357Gln c.1070G>A missense_variant segdup 11 4.79549397947529e-05 2 0 0 0 0 9 0 0 SCN3A constrhet 357 Q R 1 SCN3A:357:R:Q ENST00000360093 2 166018822 rs755224774 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala343Ser p.Ala343Ser c.1027G>T missense_variant segdup 2 8.75802453998476e-06 1 0 0 0 0 1 0 0 SCN3A constrhet 343 S A 1 SCN3A:343:A:S ENST00000360093 2 166018858 rs771446983 G T gnomAD Exomes PASS NA p.Gln331Lys p.Gln331Lys c.991C>A missense_variant segdup 11 5.33996135809781e-05 0 0 0 0 0 0 0 11 SCN3A constrhet 331 K Q 1 SCN3A:331:Q:K ENST00000360093 2 166019077 rs369361605 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile319Thr p.Ile319Thr c.956T>C missense_variant segdup 50 0.000218032129214561 0 0 0 26 0 23 1 0 SCN3A constrhet 319 T I 1 SCN3A:319:I:T ENST00000360093 2 166019103 rs1471853642 C T gnomAD Exomes PASS NA p.Met310Ile p.Met310Ile c.930G>A missense_variant segdup 2 9.61131828841644e-06 0 0 0 0 0 1 0 1 SCN3A constrhet 310 I M 1 SCN3A:310:M:I ENST00000360093 2 166019105 rs776260027 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met310Leu p.Met310Leu c.928A>T missense_variant segdup 6 2.61604332167741e-05 0 2 0 0 0 2 0 2 SCN3A constrhet 310 L M 1 SCN3A:310:M:L ENST00000360093 2 166019117 rs773352929 C G gnomAD Exomes PASS NA p.Val306Leu p.Val306Leu c.916G>C missense_variant segdup 4 1.92224518237301e-05 0 4 0 0 0 0 0 0 SCN3A constrhet 306 L V 1 SCN3A:306:V:L ENST00000360093 2 166019140 rs749622694 G A gnomAD Exomes PASS NA p.Thr298Ile p.Thr298Ile c.893C>T missense_variant segdup 2 9.61085642341589e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 298 I T 1 SCN3A:298:T:I ENST00000360093 2 166019143 rs1229817884 C T gnomAD Exomes PASS NA p.Gly297Asp p.Gly297Asp c.890G>A missense_variant segdup 2 9.61113353708936e-06 0 0 0 2 0 0 0 0 SCN3A constrhet 297 D G 1 SCN3A:297:G:D ENST00000360093 2 166019161 rs757676103 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr291Ile p.Thr291Ile c.872C>T missense_variant segdup 5 2.18007412252017e-05 4 0 0 0 0 1 0 0 SCN3A constrhet 291 I T 1 SCN3A:291:T:I ENST00000360093 2 166019167 rs542063434 G A gnomAD Exomes PASS NA p.Thr289Ile p.Thr289Ile c.866C>T missense_variant segdup 2 9.61085642341589e-06 1 1 0 0 0 0 0 0 SCN3A constrhet 289 I T 1 SCN3A:289:T:I ENST00000360093 2 166019183 rs142323631 C T gnomAD Exomes PASS NA p.Asp284Asn p.Asp284Asn c.850G>A missense_variant segdup 14 6.72766415500538e-05 2 6 0 0 0 6 0 0 SCN3A constrhet 284 N D 1 SCN3A:284:D:N ENST00000360093 2 166019184 rs747954941 G C gnomAD Exomes PASS NA p.Ser283Arg p.Ser283Arg c.849C>G missense_variant segdup 6 2.88328463785945e-05 0 1 0 0 0 4 1 0 SCN3A constrhet 283 R S 1 SCN3A:283:S:R ENST00000360093 2 166019186 rs369051978 T C gnomAD Exomes PASS NA p.Ser283Gly p.Ser283Gly c.847A>G missense_variant segdup 2 9.61094879286483e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 283 G S 1 SCN3A:283:S:G ENST00000360093 2 166019188 rs773151991 G C gnomAD Exomes PASS NA p.Pro282Arg p.Pro282Arg c.845C>G missense_variant segdup 2 9.6106716898444e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 282 R P 1 SCN3A:282:P:R ENST00000360093 2 166019255 rs1252699928 C A gnomAD Exomes PASS NA p.Val260Leu p.Val260Leu c.778G>T missense_variant segdup 2 9.61057932572175e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 260 L V 1 SCN3A:260:V:L ENST00000360093 2 166020372 rs187637533 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val212Ile p.Val212Ile c.634G>A missense_variant segdup 539 0.00236314372648913 1 29 0 80 350 65 14 0 SCN3A constrhet 212 I V 1 SCN3A:212:V:I ENST00000360093 2 166020381 rs761496434 G T gnomAD Exomes PASS NA p.Leu209Ile p.Leu209Ile c.625C>A missense_variant segdup 2 9.67660776838072e-06 0 2 0 0 0 0 0 0 SCN3A constrhet 209 I L 1 SCN3A:209:L:I ENST00000360093 2 166020944 rs183764694 C T gnomAD Exomes PASS NA p.Arg187His p.Arg187His c.560G>A missense_variant segdup 24 0.000115425680290103 4 3 0 2 1 6 0 8 SCN3A constrhet 187 H R 1 SCN3A:187:R:H ENST00000360093 2 166020945 rs777999021 G A gnomAD Exomes PASS NA p.Arg187Cys p.Arg187Cys c.559C>T missense_variant segdup 2 9.6182515942252e-06 1 0 0 0 0 1 0 0 SCN3A constrhet 187 C R 1 SCN3A:187:R:C ENST00000360093 2 166020953 rs200410949 G A gnomAD Exomes PASS NA p.Thr184Met p.Thr184Met c.551C>T missense_variant segdup 7 3.36690619799332e-05 1 1 0 0 0 3 1 1 SCN3A constrhet 184 M T 1 SCN3A:184:T:M ENST00000360093 2 166020984 rs767399908 A C gnomAD Exomes PASS NA p.Leu174Val p.Leu174Val c.520T>G missense_variant segdup 2 9.62389806367171e-06 0 0 0 1 0 0 0 1 SCN3A constrhet 174 V L 1 SCN3A:174:L:V ENST00000360093 2 166021003 rs757345466 A C gnomAD Exomes PASS NA p.Phe167Leu p.Phe167Leu c.501T>G missense_variant segdup 3 1.4438070303777e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 167 L F 1 SCN3A:167:F:L ENST00000360093 2 166025322 rs1056441967 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu133Phe p.Leu133Phe c.397C>T missense_variant segdup 3 1.31010087776759e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 133 F L 1 SCN3A:133:L:F ENST00000360093 2 166027028 rs200538599 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile99Val p.Ile99Val c.295A>G missense_variant 6 2.6278216234682e-05 0 4 0 0 0 1 1 0 SCN3A constrhet 99 V I 1 SCN3A:99:I:V ENST00000360093 2 166032689 rs1391994104 C T gnomAD Exomes PASS NA p.Met72Ile p.Met72Ile c.216G>A missense_variant segdup 2 9.61482991365883e-06 0 1 0 0 0 1 0 0 SCN3A constrhet 72 I M 1 SCN3A:72:M:I ENST00000360093 2 166032697 rs764443863 G C gnomAD Exomes PASS NA p.Pro70Ala p.Pro70Ala c.208C>G missense_variant segdup 4 1.92244843032086e-05 0 4 0 0 0 0 0 0 SCN3A constrhet 70 A P 1 SCN3A:70:P:A ENST00000360093 2 166032725 rs778352249 G T gnomAD Exomes PASS NA p.Asn60Lys p.Asn60Lys c.180C>A missense_variant segdup 2 9.61085642341589e-06 0 0 0 0 0 2 0 0 SCN3A constrhet 60 K N 1 SCN3A:60:N:K ENST00000360093 2 166032773 rs781159373 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp44Glu p.Asp44Glu c.132T>G missense_variant segdup 6 2.64033373818451e-05 0 0 0 0 0 6 0 0 SCN3A constrhet 44 E D 1 SCN3A:44:D:E ENST00000360093 2 166032783 rs748061167 T C gnomAD Exomes PASS NA p.Gln41Arg p.Gln41Arg c.122A>G missense_variant segdup 3 1.44142066420664e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 41 R Q 1 SCN3A:41:Q:R ENST00000360093 2 166032817 rs369447779 C A gnomAD Exomes PASS NA p.Ala30Ser p.Ala30Ser c.88G>T missense_variant segdup 2 9.60984047664809e-06 2 0 0 0 0 0 0 0 SCN3A constrhet 30 S A 1 SCN3A:30:A:S ENST00000360093 2 166032822 rs775711350 C T gnomAD Exomes PASS NA p.Arg28His p.Arg28His c.83G>A missense_variant segdup 2 9.60993282656954e-06 0 1 0 0 0 1 0 0 SCN3A constrhet 28 H R 1 SCN3A:28:R:H ENST00000360093 2 166032823 rs868421885 G A gnomAD Exomes PASS NA p.Arg28Cys p.Arg28Cys c.82C>T missense_variant segdup 3 1.4415037767399e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 28 C R 1 SCN3A:28:R:C ENST00000360093 2 166032829 rs141705204 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu26Lys p.Glu26Lys c.76G>A missense_variant segdup 5 2.17997907220091e-05 2 3 0 0 0 0 0 0 SCN3A constrhet 26 K E 1 SCN3A:26:E:K ENST00000360093 2 166032837 rs139585434 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala23Val p.Ala23Val c.68C>T missense_variant segdup 31 0.000135153988350598 2 0 0 0 3 26 0 0 SCN3A constrhet 23 V A 1 SCN3A:23:A:V ENST00000360093 2 166032850 rs765781930 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg19Gly p.Arg19Gly c.55A>G missense_variant segdup 3 1.30794182274772e-05 0 0 0 0 0 3 0 0 SCN3A constrhet 19 G R 1 SCN3A:19:R:G ENST00000360093 2 166032861 rs139769668 C A gnomAD Exomes PASS NA p.Arg15Leu p.Arg15Leu c.44G>T missense_variant segdup 4 1.92217128468318e-05 0 0 0 0 0 4 0 0 SCN3A constrhet 15 L R 1 SCN3A:15:R:L ENST00000360093 2 166032861 rs139769668 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg15His p.Arg15His c.44G>A missense_variant segdup 52 0.000226723754545375 33 4 0 0 1 10 2 2 SCN3A constrhet 15 H R 1 SCN3A:15:R:H ENST00000360093 2 166032862 rs558749829 G A gnomAD Exomes PASS NA p.Arg15Cys p.Arg15Cys c.43C>T missense_variant segdup 3 1.44164231892972e-05 0 0 0 2 0 1 0 0 SCN3A constrhet 15 C R 1 SCN3A:15:R:C ENST00000360093 2 166032873 rs751175820 G C gnomAD Exomes PASS NA p.Pro11Arg p.Pro11Arg c.32C>G missense_variant segdup 2 9.6106716898444e-06 0 0 0 0 0 0 0 2 SCN3A constrhet 11 R P 1 SCN3A:11:P:R ENST00000360093 2 166032901 rs772128810 C T gnomAD Exomes PASS NA p.Ala2Thr p.Ala2Thr c.4G>A missense_variant segdup 3 1.44179474609995e-05 0 0 0 0 0 0 0 3 SCN3A constrhet 2 T A 1 SCN3A:2:A:T ENST00000360093 3 53529223 rs369742276 G A gnomAD Exomes PASS NA p.Met10Ile p.Met10Ile c.30G>A missense_variant NA 2 9.72876211230883e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 10 I M 1 CACNA1D:10:M:I ENST00000350061;NM_001128840.2 3 53529240 rs760088044 A G gnomAD Exomes PASS NA p.Gln16Arg p.Gln16Arg c.47A>G missense_variant NA 4 1.94550636666958e-05 1 0 0 0 0 3 0 0 CACNA1D constrhet 16 R Q 1 CACNA1D:16:Q:R ENST00000350061;NM_001128840.2 3 53529246 rs765724402 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala18Gly p.Ala18Gly c.53C>G missense_variant NA 2 8.81997548046816e-06 0 0 0 2 0 0 0 0 CACNA1D constrhet 18 G A 1 CACNA1D:18:A:G ENST00000350061;NM_001128840.2 3 53529253 rs201981216 C A gnomAD Exomes PASS NA p.His20Gln p.His20Gln c.60C>A missense_variant NA 3 1.45993926652651e-05 0 0 1 1 0 1 0 0 CACNA1D constrhet 20 Q H 1 CACNA1D:20:H:Q ENST00000350061;NM_001128840.2 3 53531239 rs758415159 C G gnomAD Exomes PASS NA p.Pro43Arg p.Pro43Arg c.128C>G missense_variant NA 5 2.40437789126441e-05 0 1 0 1 0 0 0 3 CACNA1D constrhet 43 R P 1 CACNA1D:43:P:R ENST00000350061;NM_001128840.2 3 53531239 rs758415159 C T gnomAD Exomes PASS NA p.Pro43Leu p.Pro43Leu c.128C>T missense_variant NA 3 1.44262673475865e-05 0 1 0 0 2 0 0 0 CACNA1D constrhet 43 L P 1 CACNA1D:43:P:L ENST00000350061;NM_001128840.2 3 53531283 rs1471359438 G A gnomAD Exomes PASS NA p.Asp58Asn p.Asp58Asn c.172G>A missense_variant NA 4 1.92254082996088e-05 0 2 0 0 1 1 0 0 CACNA1D constrhet 58 N D 1 CACNA1D:58:D:N ENST00000350061;NM_001128840.2 3 53531292 rs1157252380 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg61Gly p.Arg61Gly c.181A>G missense_variant NA 2 8.72014440559136e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 61 G R 1 CACNA1D:61:R:G ENST00000350061;NM_001128840.2 3 53531316 rs575300482 A G gnomAD Exomes PASS NA p.Met69Val p.Met69Val c.205A>G missense_variant NA 2 9.60974812850155e-06 1 0 0 0 0 1 0 0 CACNA1D constrhet 69 V M 1 CACNA1D:69:M:V ENST00000350061;NM_001128840.2 3 53531321 rs764773584 C G gnomAD Exomes PASS NA p.Ser70Arg p.Ser70Arg c.210C>G missense_variant NA 2 9.60947109471095e-06 0 0 0 2 0 0 0 0 CACNA1D constrhet 70 R S 1 CACNA1D:70:S:R ENST00000350061;NM_001128840.2 3 53531364 rs914971602 C T gnomAD Exomes PASS NA p.Arg85Cys p.Arg85Cys c.253C>T missense_variant NA 2 9.60919407689277e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 85 C R 1 CACNA1D:85:R:C ENST00000350061;NM_001128840.2 3 53531401 rs769128755 C T gnomAD Exomes PASS NA p.Ser97Leu p.Ser97Leu c.290C>T missense_variant NA 10 4.80455087058462e-05 0 0 0 0 0 0 0 10 CACNA1D constrhet 97 L S 1 CACNA1D:97:S:L ENST00000350061;NM_001128840.2 3 53531421 rs1380932577 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg104Cys p.Arg104Cys c.310C>T missense_variant NA 4 1.74395284351511e-05 1 0 0 0 2 1 0 0 CACNA1D constrhet 104 C R 1 CACNA1D:104:R:C ENST00000350061;NM_001128840.2 3 53531422 rs144915770 G A gnomAD Exomes PASS NA p.Arg104His p.Arg104His c.311G>A missense_variant NA 8 3.84382537501321e-05 0 0 0 0 0 6 0 2 CACNA1D constrhet 104 H R 1 CACNA1D:104:R:H ENST00000350061;NM_001128840.2 3 53531446 rs762596454 A G gnomAD Exomes PASS NA p.Asn112Ser p.Asn112Ser c.335A>G missense_variant NA 5 2.40248320664239e-05 0 5 0 0 0 0 0 0 CACNA1D constrhet 112 S N 1 CACNA1D:112:N:S ENST00000350061;NM_001128840.2 3 53531473 rs776373174 G A gnomAD Exomes PASS NA p.Ser121Asn p.Ser121Asn c.362G>A missense_variant NA 4 1.92374283405794e-05 0 3 0 0 0 1 0 0 CACNA1D constrhet 121 N S 1 CACNA1D:121:S:N ENST00000350061;NM_001128840.2 3 53531483 rs368995943 A C gnomAD Exomes PASS NA p.Glu124Asp p.Glu124Asp c.372A>C missense_variant NA 3 1.44366807183692e-05 1 0 0 0 0 2 0 0 CACNA1D constrhet 124 D E 1 CACNA1D:124:E:D ENST00000350061;NM_001128840.2 3 53535697 rs373329119 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile145Val p.Ile145Val c.433A>G missense_variant NA 10 4.36570650228326e-05 5 1 0 0 0 3 0 1 CACNA1D constrhet 145 V I 1 CACNA1D:145:I:V ENST00000350061;NM_001128840.2 3 53684840 rs771872770 C T gnomAD Exomes PASS NA p.Thr173Ile p.Thr173Ile c.518C>T missense_variant NA 3 1.44169774326247e-05 0 0 0 0 0 1 0 2 CACNA1D constrhet 173 I T 1 CACNA1D:173:T:I ENST00000350061;NM_001128840.2 3 53684867 rs760620751 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala182Val p.Ala182Val c.545C>T missense_variant NA 2 8.7202204471729e-06 0 0 1 0 0 1 0 0 CACNA1D constrhet 182 V A 1 CACNA1D:182:A:V ENST00000350061;NM_001128840.2 3 53694206 rs1208257269 G A gnomAD Exomes PASS NA p.Gly224Arg p.Gly224Arg c.670G>A missense_variant NA 2 9.61141066674356e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 224 R G 1 CACNA1D:224:G:R ENST00000350061;NM_001128840.2 3 53694221 rs747770734 G A gnomAD Exomes PASS NA p.Gly229Ser p.Gly229Ser c.685G>A missense_variant NA 2 9.6106716898444e-06 2 0 0 0 0 0 0 0 CACNA1D constrhet 229 S G 1 CACNA1D:229:G:S ENST00000350061;NM_001128840.2 3 53699710 rs768966508 A G gnomAD Exomes PASS NA p.Ile264Val p.Ile264Val c.790A>G missense_variant NA 3 1.44182246359398e-05 0 0 0 3 0 0 0 0 CACNA1D constrhet 264 V I 1 CACNA1D:264:I:V ENST00000350061;NM_001128840.2 3 53700371 rs200101586 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val309Ile p.Val309Ile c.925G>A missense_variant NA 77 0.000335933546236672 0 11 0 1 0 21 2 42 CACNA1D constrhet 309 I V 1 CACNA1D:309:V:I ENST00000350061;NM_001128840.2 3 53700399 rs755537392 C T gnomAD Exomes PASS NA p.Ala318Val p.Ala318Val c.953C>T missense_variant NA 3 1.44158689885826e-05 0 0 0 1 0 1 0 1 CACNA1D constrhet 318 V A 1 CACNA1D:318:A:V ENST00000350061;NM_001128840.2 3 53700408 rs763483604 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly321Glu p.Gly321Glu c.962G>A missense_variant NA 14 6.10356884389687e-05 2 2 0 0 0 9 1 0 CACNA1D constrhet 321 E G 1 CACNA1D:321:G:E ENST00000350061;NM_001128840.2 3 53700476 rs959324592 A G gnomAD Exomes PASS NA p.Ile344Val p.Ile344Val c.1030A>G missense_variant NA 2 9.60947109471095e-06 0 2 0 0 0 0 0 0 CACNA1D constrhet 344 V I 1 CACNA1D:344:I:V ENST00000350061;NM_001128840.2 3 53700479 rs1199547685 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr345Pro p.Thr345Pro c.1033A>C missense_variant NA 3 1.30787339785509e-05 0 1 0 0 0 0 2 0 CACNA1D constrhet 345 P T 1 CACNA1D:345:T:P ENST00000350061;NM_001128840.2 3 53700551 rs148674323 G A gnomAD Exomes PASS NA p.Val369Met p.Val369Met c.1105G>A missense_variant NA 9 4.32463600980251e-05 0 2 0 0 0 6 1 0 CACNA1D constrhet 369 M V 1 CACNA1D:369:V:M ENST00000350061;NM_001128840.2 3 53700558 rs577554366 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr371Ser p.Tyr371Ser c.1112A>C missense_variant NA 9 3.92382546824317e-05 0 0 0 0 0 9 0 0 CACNA1D constrhet 371 S Y 1 CACNA1D:371:Y:S ENST00000350061;NM_001128840.2 3 53707080 rs1223628194 T G gnomAD Exomes PASS NA p.Trp383Gly p.Trp383Gly c.1147T>G missense_variant NA 2 1.5054572826496e-05 2 0 0 0 0 0 0 0 CACNA1D constrhet 383 G W 1 CACNA1D:383:W:G ENST00000350061;NM_001128840.2 3 53707122 rs963644283 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val397Ile p.Val397Ile c.1189G>A missense_variant NA 7 4.52980612429788e-05 2 1 0 0 2 1 0 1 CACNA1D constrhet 397 I V 1 CACNA1D:397:V:I ENST00000350061;NM_001128840.2 3 53736702 rs371212198 C T gnomAD Exomes PASS NA p.Arg419Trp p.Arg419Trp c.1255C>T missense_variant NA 3 1.44162846351238e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 419 W R 1 CACNA1D:419:R:W ENST00000350061;NM_001128840.2 3 53736792 rs768158230 G A gnomAD Exomes PASS NA p.Asp449Asn p.Asp449Asn c.1345G>A missense_variant NA 3 1.44158689885826e-05 0 0 0 0 0 1 2 0 CACNA1D constrhet 449 N D 1 CACNA1D:449:D:N ENST00000350061;NM_001128840.2 3 53736796 rs556582252 C T gnomAD Exomes PASS NA p.Pro450Leu p.Pro450Leu c.1349C>T missense_variant NA 3 1.44158689885826e-05 0 1 0 0 0 0 0 2 CACNA1D constrhet 450 L P 1 CACNA1D:450:P:L ENST00000350061;NM_001128840.2 3 53736798 rs200910800 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu451Gln p.Glu451Gln c.1351G>C missense_variant NA 35 0.000152598535054063 2 0 0 0 0 33 0 0 CACNA1D constrhet 451 Q E 1 CACNA1D:451:E:Q ENST00000350061;NM_001128840.2 3 53736801 rs760504266 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn452Asp p.Asn452Asp c.1354A>G missense_variant NA 2 8.72014440559136e-06 1 1 0 0 0 0 0 0 CACNA1D constrhet 452 D N 1 CACNA1D:452:N:D ENST00000350061;NM_001128840.2 3 53736825 rs35874056 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly460Ser p.Gly460Ser c.1378G>A missense_variant NA 57 0.000248552291913765 2 0 0 0 1 41 1 12 CACNA1D constrhet 460 S G 1 CACNA1D:460:G:S ENST00000350061;NM_001128840.2 3 53736826 rs367786816 G A gnomAD Exomes PASS NA p.Gly460Asp p.Gly460Asp c.1379G>A missense_variant NA 9 4.32521794292635e-05 0 1 0 0 0 8 0 0 CACNA1D constrhet 460 D G 1 CACNA1D:460:G:D ENST00000350061;NM_001128840.2 3 53736831 rs765353117 C G gnomAD Exomes PASS NA p.Arg462Gly p.Arg462Gly c.1384C>G missense_variant NA 2 9.61307378034126e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 462 G R 1 CACNA1D:462:R:G ENST00000350061;NM_001128840.2 3 53736832 rs35057005 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg462Gln p.Arg462Gln c.1385G>A missense_variant NA 15 6.54210498770084e-05 7 2 0 2 0 4 0 0 CACNA1D constrhet 462 Q R 1 CACNA1D:462:R:Q ENST00000350061;NM_001128840.2 3 53736836 rs150652713 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn463Lys p.Asn463Lys c.1389T>G missense_variant NA 27 0.000117757889778615 0 0 0 0 0 24 1 2 CACNA1D constrhet 463 K N 1 CACNA1D:463:N:K ENST00000350061;NM_001128840.2 3 53736837 rs764734420 A G gnomAD Exomes PASS NA p.Thr464Ala p.Thr464Ala c.1390A>G missense_variant NA 4 1.92263323848343e-05 0 4 0 0 0 0 0 0 CACNA1D constrhet 464 A T 1 CACNA1D:464:T:A ENST00000350061;NM_001128840.2 3 53752368 rs760909552 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu477Asp p.Glu477Asp c.1431G>C missense_variant NA 3 1.30803306707594e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 477 D E 1 CACNA1D:477:E:D ENST00000350061;NM_001128840.2 3 53752376 rs199737839 G A gnomAD Exomes PASS NA p.Ser480Asn p.Ser480Asn c.1439G>A missense_variant NA 10 4.80552058204465e-05 0 0 0 1 0 0 0 9 CACNA1D constrhet 480 N S 1 CACNA1D:480:S:N ENST00000350061;NM_001128840.2 3 53752378 rs374319069 G A gnomAD Exomes PASS NA p.Gly481Ser p.Gly481Ser c.1441G>A missense_variant NA 3 1.44162846351238e-05 0 0 0 1 0 1 0 1 CACNA1D constrhet 481 S G 1 CACNA1D:481:G:S ENST00000350061;NM_001128840.2 3 53752387 rs899802931 G A gnomAD Exomes PASS NA p.Glu484Lys p.Glu484Lys c.1450G>A missense_variant NA 2 9.61122591186506e-06 0 0 0 0 1 0 0 1 CACNA1D constrhet 484 K E 1 CACNA1D:484:E:K ENST00000350061;NM_001128840.2 3 53752394 rs745835964 G A gnomAD Exomes PASS NA p.Arg486Gln p.Arg486Gln c.1457G>A missense_variant NA 8 3.84478598959985e-05 2 4 0 0 0 2 0 0 CACNA1D constrhet 486 Q R 1 CACNA1D:486:R:Q ENST00000350061;NM_001128840.2 3 53752400 rs375512160 G A gnomAD Exomes PASS NA p.Cys488Tyr p.Cys488Tyr c.1463G>A missense_variant NA 2 9.61242694555521e-06 2 0 0 0 0 0 0 0 CACNA1D constrhet 488 Y C 1 CACNA1D:488:C:Y ENST00000350061;NM_001128840.2 3 53752406 rs749519475 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly490Glu p.Gly490Glu c.1469G>A missense_variant NA 4 1.74445481425917e-05 0 0 0 0 0 3 0 1 CACNA1D constrhet 490 E G 1 CACNA1D:490:G:E ENST00000350061;NM_001128840.2 3 53752408 rs769060712 A G gnomAD Exomes PASS NA p.Ser491Gly p.Ser491Gly c.1471A>G missense_variant NA 2 9.61344343930552e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 491 G S 1 CACNA1D:491:S:G ENST00000350061;NM_001128840.2 3 53752414 rs139380111 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Trp493Arg p.Trp493Arg c.1477T>A missense_variant NA 41 0.000178839376068674 41 0 0 0 0 0 0 0 CACNA1D constrhet 493 S C 1 CACNA1D:493:C:S ENST00000350061;NM_001128840.2 3 53753795 rs1333911973 A G gnomAD Genomes NA PASS p.Lys518Glu p.Lys518Glu c.1552A>G missense_variant NA 2 9.40910801656003e-05 0 0 0 0 0 2 0 0 CACNA1D constrhet 498 E K 1 CACNA1D:498:K:E ENST00000350061;NM_001128840.2 3 53753799 rs144884666 C T gnomAD Exomes PASS NA p.Ser519Phe p.Ser519Phe c.1556C>T missense_variant NA 2 9.61076405574243e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 499 F S 1 CACNA1D:499:S:F ENST00000350061;NM_001128840.2 3 53756345 rs143078083 C T gnomAD Exomes PASS NA p.Arg524Cys p.Arg524Cys c.1570C>T missense_variant NA 5 2.40232160359772e-05 4 0 0 0 0 1 0 0 CACNA1D constrhet 504 C R 1 CACNA1D:504:R:C ENST00000350061;NM_001128840.2 3 53756352 rs141239749 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg526His p.Arg526His c.1577G>A missense_variant NA 9 3.9233465274024e-05 1 0 0 0 0 7 0 1 CACNA1D constrhet 506 H R 1 CACNA1D:506:R:H ENST00000350061;NM_001128840.2 3 53756354 rs139268281 C T gnomAD Exomes PASS NA p.Arg527Cys p.Arg527Cys c.1579C>T missense_variant NA 2 9.60910174116923e-06 1 0 0 0 0 1 0 0 CACNA1D constrhet 507 C R 1 CACNA1D:507:R:C ENST00000350061;NM_001128840.2 3 53756364 rs752606091 G A gnomAD Exomes PASS NA p.Arg530Gln p.Arg530Gln c.1589G>A missense_variant NA 2 9.60928641439087e-06 0 2 0 0 0 0 0 0 CACNA1D constrhet 510 Q R 1 CACNA1D:510:R:Q ENST00000350061;NM_001128840.2 3 53756368 rs762756866 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe531Leu p.Phe531Leu c.1593C>G missense_variant NA 4 1.74373997349515e-05 1 0 0 0 0 3 0 0 CACNA1D constrhet 511 L F 1 CACNA1D:511:F:L ENST00000350061;NM_001128840.2 3 53756370 rs202097014 A G gnomAD Exomes PASS NA p.Asn532Ser p.Asn532Ser c.1595A>G missense_variant NA 4 1.92183881537855e-05 0 2 0 0 0 2 0 0 CACNA1D constrhet 512 S N 1 CACNA1D:512:N:S ENST00000350061;NM_001128840.2 3 53756390 rs138150805 G A gnomAD Exomes PASS NA p.Ala539Thr p.Ala539Thr c.1615G>A missense_variant NA 2 9.60919407689277e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 519 T A 1 CACNA1D:519:A:T ENST00000350061;NM_001128840.2 3 53756426 rs199772983 G A gnomAD Exomes PASS NA p.Val551Ile p.Val551Ile c.1651G>A missense_variant NA 6 2.88347862861756e-05 3 0 0 0 0 2 0 1 CACNA1D constrhet 531 I V 1 CACNA1D:531:V:I ENST00000350061;NM_001128840.2 3 53756472 rs55797424 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn566Ser p.Asn566Ser c.1697A>G missense_variant NA 25 0.000108978997567589 2 4 0 8 0 7 1 3 CACNA1D constrhet 546 S N 1 CACNA1D:546:N:S ENST00000350061;NM_001128840.2 3 53757461 rs1291223718 A T gnomAD Exomes PASS NA p.Asp576Val p.Asp576Val c.1727A>T missense_variant NA 2 9.61113353708936e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 556 V D 1 CACNA1D:556:D:V ENST00000350061;NM_001128840.2 3 53757472 rs758865477 A G gnomAD Exomes PASS NA p.Lys580Glu p.Lys580Glu c.1738A>G missense_variant NA 3 1.44140681304954e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 560 E K 1 CACNA1D:560:K:E ENST00000350061;NM_001128840.2 3 53757484 rs745525591 G A gnomAD Exomes PASS NA p.Ala584Thr p.Ala584Thr c.1750G>A missense_variant NA 3 1.44137911153392e-05 0 1 0 0 0 2 0 0 CACNA1D constrhet 564 T A 1 CACNA1D:564:A:T ENST00000350061;NM_001128840.2 3 53757516 rs373740752 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met594Ile p.Met594Ile c.1782G>A missense_variant NA 10 4.35950197049489e-05 3 1 0 0 0 5 0 1 CACNA1D constrhet 574 I M 1 CACNA1D:574:M:I ENST00000350061;NM_001128840.2 3 53757544 rs773365038 G A gnomAD Exomes PASS NA p.Val604Ile p.Val604Ile c.1810G>A missense_variant NA 6 2.88273052235077e-05 0 2 0 0 0 2 0 2 CACNA1D constrhet 584 I V 1 CACNA1D:584:V:I ENST00000350061;NM_001128840.2 3 53757559 rs760813746 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg609Trp p.Arg609Trp c.1825C>T missense_variant NA 2 8.71900394098978e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 589 W R 1 CACNA1D:589:R:W ENST00000350061;NM_001128840.2 3 53757599 rs765798948 C T gnomAD Exomes PASS NA p.Thr622Met p.Thr622Met c.1865C>T missense_variant NA 2 9.60919407689277e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 602 M T 1 CACNA1D:602:T:M ENST00000350061;NM_001128840.2 3 53757820 rs779537136 C T gnomAD Exomes PASS NA p.His652Tyr p.His652Tyr c.1954C>T missense_variant NA 2 9.60984047664809e-06 0 2 0 0 0 0 0 0 CACNA1D constrhet 632 Y H 1 CACNA1D:632:H:Y ENST00000350061;NM_001128840.2 3 53757865 rs368260280 A T gnomAD Exomes PASS NA p.Met667Leu p.Met667Leu c.1999A>T missense_variant NA 9 4.32409578352616e-05 0 0 0 0 0 9 0 0 CACNA1D constrhet 647 L M 1 CACNA1D:647:M:L ENST00000350061;NM_001128840.2 3 53757869 rs778399253 A G gnomAD Exomes PASS NA p.Lys668Arg p.Lys668Arg c.2003A>G missense_variant NA 2 9.60910174116923e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 648 R K 1 CACNA1D:648:K:R ENST00000350061;NM_001128840.2 3 53757881 rs777591848 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser672Trp p.Ser672Trp c.2015C>G missense_variant NA 3 1.30783918809343e-05 0 0 0 0 2 0 1 0 CACNA1D constrhet 652 W S 1 CACNA1D:652:S:W ENST00000350061;NM_001128840.2 3 53757961 rs753366323 G T gnomAD Exomes PASS NA p.Asp699Tyr p.Asp699Tyr c.2095G>T missense_variant NA 2 9.60956343753303e-06 0 0 0 1 0 0 1 0 CACNA1D constrhet 679 Y D 1 CACNA1D:679:D:Y ENST00000350061;NM_001128840.2 3 53757968 rs369605872 C T gnomAD Exomes PASS NA p.Thr701Met p.Thr701Met c.2102C>T missense_variant NA 6 2.88295214299443e-05 0 3 0 1 0 2 0 0 CACNA1D constrhet 681 M T 1 CACNA1D:681:T:M ENST00000350061;NM_001128840.2 3 53757995 rs149676780 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn710Ser p.Asn710Ser c.2129A>G missense_variant NA 32 0.000139533261241148 0 6 0 0 0 8 0 18 CACNA1D constrhet 690 S N 1 CACNA1D:690:N:S ENST00000350061;NM_001128840.2 3 53758001 rs1411664894 C G gnomAD Exomes PASS NA p.Pro712Arg p.Pro712Arg c.2135C>G missense_variant NA 2 9.61205736475835e-06 0 2 0 0 0 0 0 0 CACNA1D constrhet 692 R P 1 CACNA1D:692:P:R ENST00000350061;NM_001128840.2 3 53760912 rs748590097 A G gnomAD Exomes PASS NA p.Thr723Ala p.Thr723Ala c.2167A>G missense_variant NA 2 9.60965578212988e-06 0 0 2 0 0 0 0 0 CACNA1D constrhet 703 A T 1 CACNA1D:703:T:A ENST00000350061;NM_001128840.2 3 53760942 rs760977697 G A gnomAD Exomes PASS NA p.Asp733Asn p.Asp733Asn c.2197G>A missense_variant NA 4 1.92189421894219e-05 0 1 0 0 0 1 0 2 CACNA1D constrhet 713 N D 1 CACNA1D:713:D:N ENST00000350061;NM_001128840.2 3 53760951 rs775056182 A G gnomAD Exomes PASS NA p.Met736Val p.Met736Val c.2206A>G missense_variant NA 9 4.32417888647589e-05 0 0 0 9 0 0 0 0 CACNA1D constrhet 716 V M 1 CACNA1D:716:M:V ENST00000350061;NM_001128840.2 3 53760981 rs568551083 A G gnomAD Exomes PASS NA p.Met746Val p.Met746Val c.2236A>G missense_variant NA 2 9.60937875366358e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 726 V M 1 CACNA1D:726:M:V ENST00000350061;NM_001128840.2 3 53760987 rs184573217 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val748Ile p.Val748Ile c.2242G>A missense_variant NA 96 0.000418493944915735 0 0 0 78 0 1 0 17 CACNA1D constrhet 728 I V 1 CACNA1D:728:V:I ENST00000350061;NM_001128840.2 3 53765121 rs1175460516 A G gnomAD Genomes NA PASS p.Asn805Ser p.Asn805Ser c.2414A>G missense_variant NA 2 9.40556809631302e-05 2 0 0 0 0 0 0 0 CACNA1D constrhet 785 S N 1 CACNA1D:785:N:S ENST00000350061;NM_001128840.2 3 53765136 rs763129695 A G gnomAD Exomes PASS NA p.Lys810Arg p.Lys810Arg c.2429A>G missense_variant NA 2 9.61880669084193e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 790 R K 1 CACNA1D:790:K:R ENST00000350061;NM_001128840.2 3 53765169 rs757267401 A T gnomAD Exomes PASS NA p.Asn821Ile p.Asn821Ile c.2462A>T missense_variant NA 2 9.61815908435126e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 801 I N 1 CACNA1D:801:N:I ENST00000350061;NM_001128840.2 3 53766050 rs147933585 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile825Thr p.Ile825Thr c.2474T>C missense_variant NA 36 0.000156951650172211 2 0 3 1 0 26 1 3 CACNA1D constrhet 805 T I 1 CACNA1D:805:I:T ENST00000350061;NM_001128840.2 3 53766071 rs751240151 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp832Val p.Asp832Val c.2495A>T missense_variant NA 3 1.30782778523724e-05 3 0 0 0 0 0 0 0 CACNA1D constrhet 812 V D 1 CACNA1D:812:D:V ENST00000350061;NM_001128840.2 3 53766103 rs35090700 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val843Met p.Val843Met c.2527G>A missense_variant NA 56 0.000244172560236499 47 5 0 0 0 3 1 0 CACNA1D constrhet 823 M V 1 CACNA1D:823:V:M ENST00000350061;NM_001128840.2 3 53766877 rs768629978 C G gnomAD Exomes PASS NA p.Pro857Ala p.Pro857Ala c.2569C>G missense_variant NA 3 1.44161460836136e-05 0 0 0 0 0 0 0 3 CACNA1D constrhet 837 A P 1 CACNA1D:837:P:A ENST00000350061;NM_001128840.2 3 53766886 rs747902160 C T gnomAD Exomes PASS NA p.Pro860Ser p.Pro860Ser c.2578C>T missense_variant NA 3 1.44151762976061e-05 0 0 0 0 0 0 0 3 CACNA1D constrhet 840 S P 1 CACNA1D:840:P:S ENST00000350061;NM_001128840.2 3 53766892 rs760959586 G A gnomAD Exomes PASS NA p.Gly862Arg p.Gly862Arg c.2584G>A missense_variant NA 3 1.44153148304759e-05 0 1 0 0 0 1 0 1 CACNA1D constrhet 842 R G 1 CACNA1D:842:G:R ENST00000350061;NM_001128840.2 3 53766914 rs776897309 C T gnomAD Exomes PASS NA p.Ser869Leu p.Ser869Leu c.2606C>T missense_variant NA 3 1.44143451562995e-05 0 0 0 1 1 1 0 0 CACNA1D constrhet 849 L S 1 CACNA1D:849:S:L ENST00000350061;NM_001128840.2 3 53766920 rs186968009 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu871Trp p.Leu871Trp c.2612T>G missense_variant NA 144 0.000627790178571429 0 2 38 0 0 14 2 88 CACNA1D constrhet 851 W L 1 CACNA1D:851:L:W ENST00000350061;NM_001128840.2 3 53766941 rs568467080 C T gnomAD Exomes PASS NA p.Ala878Val p.Ala878Val c.2633C>T missense_variant NA 5 2.40248320664239e-05 1 0 0 0 0 4 0 0 CACNA1D constrhet 858 V A 1 CACNA1D:858:A:V ENST00000350061;NM_001128840.2 3 53769408 rs564937293 G A gnomAD Exomes PASS NA p.Val897Ile p.Val897Ile c.2689G>A missense_variant NA 9 4.32459444914277e-05 0 2 0 5 0 2 0 0 CACNA1D constrhet 877 I V 1 CACNA1D:877:V:I ENST00000350061;NM_001128840.2 3 53769430 rs769988052 A G gnomAD Exomes PASS NA p.Asn904Ser p.Asn904Ser c.2711A>G missense_variant NA 3 1.44143451562995e-05 0 0 0 0 0 2 0 1 CACNA1D constrhet 884 S N 1 CACNA1D:884:N:S ENST00000350061;NM_001128840.2 3 53769438 rs1366252476 A G gnomAD Exomes PASS NA p.Ile907Val p.Ile907Val c.2719A>G missense_variant NA 5 2.40234468841589e-05 0 0 0 0 5 0 0 0 CACNA1D constrhet 887 V I 1 CACNA1D:887:I:V ENST00000350061;NM_001128840.2 3 53769492 rs764701041 G A gnomAD Exomes PASS NA p.Ala925Thr p.Ala925Thr c.2773G>A missense_variant NA 3 1.44191948321606e-05 0 1 0 0 0 2 0 0 CACNA1D constrhet 905 T A 1 CACNA1D:905:A:T ENST00000350061;NM_001128840.2 3 53769507 rs751464393 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg930Cys p.Arg930Cys c.2788C>T missense_variant NA 4 1.74547485643469e-05 1 1 2 0 0 0 0 0 CACNA1D constrhet 910 C R 1 CACNA1D:910:R:C ENST00000350061;NM_001128840.2 3 53769508 rs115066564 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg930His p.Arg930His c.2789G>A missense_variant NA 116 0.000506616587325851 5 11 0 1 0 51 7 41 CACNA1D constrhet 910 H R 1 CACNA1D:910:R:H ENST00000350061;NM_001128840.2 3 53769522 rs368864820 C T gnomAD Exomes PASS NA p.Arg935Trp p.Arg935Trp c.2803C>T missense_variant NA 8 3.8472636337405e-05 0 5 0 0 0 3 0 0 CACNA1D constrhet 915 W R 1 CACNA1D:915:R:W ENST00000350061;NM_001128840.2 3 53769529 rs145327253 C T gnomAD Exomes PASS NA p.Thr937Met p.Thr937Met c.2810C>T missense_variant NA 7 3.36690619799332e-05 5 0 0 0 0 1 0 1 CACNA1D constrhet 917 M T 1 CACNA1D:917:T:M ENST00000350061;NM_001128840.2 3 53774326 rs200504982 A G gnomAD Exomes PASS NA p.Tyr944Cys p.Tyr944Cys c.2831A>G missense_variant NA 4 1.92191268750661e-05 0 0 0 4 0 0 0 0 CACNA1D constrhet 924 C Y 1 CACNA1D:924:Y:C ENST00000350061;NM_001128840.2 3 53774329 rs149224560 C T gnomAD Exomes PASS NA p.Ala945Val p.Ala945Val c.2834C>T missense_variant NA 2 9.60965578212988e-06 2 0 0 0 0 0 0 0 CACNA1D constrhet 925 V A 1 CACNA1D:925:A:V ENST00000350061;NM_001128840.2 3 53777041 rs778190780 A G gnomAD Exomes PASS NA p.Thr959Ala p.Thr959Ala c.2875A>G missense_variant NA 2 9.60956343753303e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 939 A T 1 CACNA1D:939:T:A ENST00000350061;NM_001128840.2 3 53777110 rs1211161359 G C gnomAD Exomes PASS NA p.Val982Leu p.Val982Leu c.2944G>C missense_variant NA 3 1.44139296215863e-05 1 0 0 0 0 2 0 0 CACNA1D constrhet 962 L V 1 CACNA1D:962:V:L ENST00000350061;NM_001128840.2 3 53777140 rs1391281420 A T gnomAD Exomes PASS NA p.Ile992Phe p.Ile992Phe c.2974A>T missense_variant NA 4 1.92191268750661e-05 0 3 0 0 0 0 0 1 CACNA1D constrhet 972 F I 1 CACNA1D:972:I:F ENST00000350061;NM_001128840.2 3 53777144 rs537772338 A G gnomAD Exomes PASS NA p.Gln993Arg p.Gln993Arg c.2978A>G missense_variant NA 2 9.60984047664809e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 973 R Q 1 CACNA1D:973:Q:R ENST00000350061;NM_001128840.2 3 53778801 rs776649485 G A gnomAD Exomes PASS NA p.Val1005Ile p.Val1005Ile c.3013G>A missense_variant NA 7 3.3632502450368e-05 0 7 0 0 0 0 0 0 CACNA1D constrhet 985 I V 1 CACNA1D:985:V:I ENST00000350061;NM_001128840.2 3 53779672 rs780809499 G A gnomAD Exomes PASS NA p.Val1030Met p.Val1030Met c.3088G>A missense_variant NA 2 9.60965578212988e-06 0 1 0 1 0 0 0 0 CACNA1D constrhet 1010 M V 1 CACNA1D:1010:V:M ENST00000350061;NM_001128840.2 3 53779682 rs150147528 G A gnomAD Exomes PASS NA p.Arg1033Gln p.Arg1033Gln c.3098G>A missense_variant NA 14 6.72669440627312e-05 0 7 0 0 0 7 0 0 CACNA1D constrhet 1013 Q R 1 CACNA1D:1013:R:Q ENST00000350061;NM_001128840.2 3 53779860 rs149327469 A G gnomAD Exomes PASS NA p.Tyr1062Cys p.Tyr1062Cys c.3185A>G missense_variant NA 4 1.92213433796888e-05 2 0 0 0 0 0 0 2 CACNA1D constrhet 1042 C Y 1 CACNA1D:1042:Y:C ENST00000350061;NM_001128840.2 3 53779862 rs185924781 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1063Cys p.Arg1063Cys c.3187C>T missense_variant NA 4 1.74395284351511e-05 0 3 0 0 0 0 1 0 CACNA1D constrhet 1043 C R 1 CACNA1D:1043:R:C ENST00000350061;NM_001128840.2 3 53779863 rs202058955 G A gnomAD Exomes PASS NA p.Arg1063His p.Arg1063His c.3188G>A missense_variant NA 4 1.92217128468318e-05 0 0 0 0 1 0 0 3 CACNA1D constrhet 1043 H R 1 CACNA1D:1043:R:H ENST00000350061;NM_001128840.2 3 53779869 rs773341387 C T gnomAD Exomes PASS NA p.Thr1065Met p.Thr1065Met c.3194C>T missense_variant NA 2 9.61150304684647e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1045 M T 1 CACNA1D:1045:T:M ENST00000350061;NM_001128840.2 3 53779884 rs747040925 G A gnomAD Exomes PASS NA p.Ser1070Asn p.Ser1070Asn c.3209G>A missense_variant NA 2 9.61196497399963e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1050 N S 1 CACNA1D:1050:S:N ENST00000350061;NM_001128840.2 3 53779889 rs771135764 C G gnomAD Exomes PASS NA p.Pro1072Ala p.Pro1072Ala c.3214C>G missense_variant NA 2 9.61261174661155e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1052 A P 1 CACNA1D:1052:P:A ENST00000350061;NM_001128840.2 3 53779901 rs777269334 A G gnomAD Exomes PASS NA p.Arg1076Gly p.Arg1076Gly c.3226A>G missense_variant NA 2 9.6150148071228e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1056 G R 1 CACNA1D:1056:R:G ENST00000350061;NM_001128840.2 3 53781339 rs775883474 A G gnomAD Exomes PASS NA p.Ile1080Val p.Ile1080Val c.3238A>G missense_variant NA 2 9.61030224400557e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1060 V I 1 CACNA1D:1060:I:V ENST00000350061;NM_001128840.2 3 53781349 rs768907021 A C gnomAD Exomes PASS NA p.Lys1083Thr p.Lys1083Thr c.3248A>C missense_variant NA 5 2.40229851922319e-05 0 5 0 0 0 0 0 0 CACNA1D constrhet 1063 T K 1 CACNA1D:1063:K:T ENST00000350061;NM_001128840.2 3 53781378 rs765175731 C T gnomAD Exomes PASS NA p.Arg1093Cys p.Arg1093Cys c.3277C>T missense_variant NA 3 1.44137911153392e-05 0 0 0 0 0 2 0 1 CACNA1D constrhet 1073 C R 1 CACNA1D:1073:R:C ENST00000350061;NM_001128840.2 3 53781379 rs758204752 G A gnomAD Exomes PASS NA p.Arg1093His p.Arg1093His c.3278G>A missense_variant NA 3 1.44136526117539e-05 0 1 0 0 0 1 0 1 CACNA1D constrhet 1073 H R 1 CACNA1D:1073:R:H ENST00000350061;NM_001128840.2 3 53781398 rs781593694 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1099Lys p.Asn1099Lys c.3297C>G missense_variant NA 5 2.1795989537925e-05 0 3 0 0 0 2 0 0 CACNA1D constrhet 1079 K N 1 CACNA1D:1079:N:K ENST00000350061;NM_001128840.2 3 53781414 rs374721231 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1105Asn p.Asp1105Asn c.3313G>A missense_variant NA 4 1.74375517677318e-05 1 0 0 0 0 3 0 0 CACNA1D constrhet 1085 N D 1 CACNA1D:1085:D:N ENST00000350061;NM_001128840.2 3 53781418 rs780543741 A G gnomAD Exomes PASS NA p.Asn1106Ser p.Asn1106Ser c.3317A>G missense_variant NA 6 2.88273052235077e-05 0 5 0 0 0 1 0 0 CACNA1D constrhet 1086 S N 1 CACNA1D:1086:N:S ENST00000350061;NM_001128840.2 3 53781420 rs768995869 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1107Ile p.Val1107Ile c.3319G>A missense_variant NA 3 1.30782778523724e-05 0 1 0 0 0 2 0 0 CACNA1D constrhet 1087 I V 1 CACNA1D:1087:V:I ENST00000350061;NM_001128840.2 3 53781432 rs1370453608 A G gnomAD Exomes PASS NA p.Met1111Val p.Met1111Val c.3331A>G missense_variant NA 2 9.60910174116923e-06 0 2 0 0 0 0 0 0 CACNA1D constrhet 1091 V M 1 CACNA1D:1091:M:V ENST00000350061;NM_001128840.2 3 53781439 rs760291838 C T gnomAD Exomes PASS NA p.Ala1113Val p.Ala1113Val c.3338C>T missense_variant NA 2 9.60910174116923e-06 0 1 0 0 0 0 0 1 CACNA1D constrhet 1093 V A 1 CACNA1D:1093:A:V ENST00000350061;NM_001128840.2 3 53781457 rs1057518141 C T gnomAD Exomes PASS NA p.Thr1119Met p.Thr1119Met c.3356C>T missense_variant NA 2 9.60919407689277e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1099 M T 1 CACNA1D:1099:T:M ENST00000350061;NM_001128840.2 3 53781475 rs775480398 C G gnomAD Exomes PASS NA p.Ala1125Gly p.Ala1125Gly c.3374C>G missense_variant NA 2 9.61011753173741e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1105 G A 1 CACNA1D:1105:A:G ENST00000350061;NM_001128840.2 3 53781475 rs775480398 C T gnomAD Exomes PASS NA p.Ala1125Val p.Ala1125Val c.3374C>T missense_variant NA 6 2.88303525952122e-05 0 0 0 0 0 6 0 0 CACNA1D constrhet 1105 V A 1 CACNA1D:1105:A:V ENST00000350061;NM_001128840.2 3 53783314 rs771879305 G A gnomAD Exomes PASS NA p.Asp1132Asn p.Asp1132Asn c.3394G>A missense_variant NA 3 1.44208583294878e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 1112 N D 1 CACNA1D:1112:D:N ENST00000350061;NM_001128840.2 3 53783335 rs199788509 G A gnomAD Exomes PASS NA p.Gly1139Ser p.Gly1139Ser c.3415G>A missense_variant NA 9 4.32534266325766e-05 0 6 0 0 0 1 0 2 CACNA1D constrhet 1119 S G 1 CACNA1D:1119:G:S ENST00000350061;NM_001128840.2 3 53783341 rs146892408 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1141Val p.Ile1141Val c.3421A>G missense_variant NA 141 0.000614829155983465 2 6 51 0 0 41 3 38 CACNA1D constrhet 1121 V I 1 CACNA1D:1121:I:V ENST00000350061;NM_001128840.2 3 53783347 rs765372540 A G gnomAD Exomes PASS NA p.Asn1143Asp p.Asn1143Asp c.3427A>G missense_variant NA 2 9.61178019781044e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1123 D N 1 CACNA1D:1123:N:D ENST00000350061;NM_001128840.2 3 53783349 rs753177006 C A gnomAD Exomes PASS NA p.Asn1143Lys p.Asn1143Lys c.3429C>A missense_variant NA 9 4.32521794292635e-05 0 9 0 0 0 0 0 0 CACNA1D constrhet 1123 K N 1 CACNA1D:1123:N:K ENST00000350061;NM_001128840.2 3 53783350 rs377257596 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.His1144Asp p.His1144Asp c.3430C>G missense_variant NA 2 8.72067672451382e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1124 D H 1 CACNA1D:1124:H:D ENST00000350061;NM_001128840.2 3 53783356 rs778371783 G A gnomAD Exomes PASS NA p.Val1146Met p.Val1146Met c.3436G>A missense_variant NA 15 7.20869657154391e-05 0 0 0 1 0 1 0 13 CACNA1D constrhet 1126 M V 1 CACNA1D:1126:V:M ENST00000350061;NM_001128840.2 3 53783356 rs778371783 G T gnomAD Exomes PASS NA p.Val1146Leu p.Val1146Leu c.3436G>T missense_variant NA 4 1.92231908574504e-05 4 0 0 0 0 0 0 0 CACNA1D constrhet 1126 L V 1 CACNA1D:1126:V:L ENST00000350061;NM_001128840.2 3 53783377 rs779504539 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1153Val p.Ile1153Val c.3457A>G missense_variant NA 2 8.72151335699771e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1133 V I 1 CACNA1D:1133:I:V ENST00000350061;NM_001128840.2 3 53783380 rs751014979 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1154Val p.Ile1154Val c.3460A>G missense_variant NA 2 8.72250231146311e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1134 V I 1 CACNA1D:1134:I:V ENST00000350061;NM_001128840.2 3 53783389 rs539345919 A G gnomAD Exomes PASS NA p.Ile1157Val p.Ile1157Val c.3469A>G missense_variant NA 9 4.32476069657479e-05 0 0 0 0 0 0 0 9 CACNA1D constrhet 1137 V I 1 CACNA1D:1137:I:V ENST00000350061;NM_001128840.2 3 53783393 rs146540139 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1158Thr p.Ile1158Thr c.3473T>C missense_variant NA 2 8.72029649008066e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1138 T I 1 CACNA1D:1138:I:T ENST00000350061;NM_001128840.2 3 53783437 rs149170250 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1173Ile p.Val1173Ile c.3517G>A missense_variant NA 3 1.30789620535714e-05 2 0 0 1 0 0 0 0 CACNA1D constrhet 1153 I V 1 CACNA1D:1153:V:I ENST00000350061;NM_001128840.2 3 53785794 rs757830356 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1199Thr p.Ala1199Thr c.3595G>A missense_variant NA 3 1.30781638257989e-05 2 0 0 0 0 1 0 0 CACNA1D constrhet 1179 T A 1 CACNA1D:1179:A:T ENST00000350061;NM_001128840.2 3 53785812 rs781143092 T A gnomAD Exomes PASS NA p.Leu1205Met p.Leu1205Met c.3613T>A missense_variant NA 3 1.44137911153392e-05 0 0 0 3 0 0 0 0 CACNA1D constrhet 1185 M L 1 CACNA1D:1185:L:M ENST00000350061;NM_001128840.2 3 53785816 rs745599441 G A gnomAD Exomes PASS NA p.Arg1206Gln p.Arg1206Gln c.3617G>A missense_variant NA 6 2.88275822306783e-05 0 0 0 0 0 6 0 0 CACNA1D constrhet 1186 Q R 1 CACNA1D:1186:R:Q ENST00000350061;NM_001128840.2 3 53785860 rs187042250 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1221Met p.Val1221Met c.3661G>A missense_variant NA 7 3.05167798693882e-05 5 0 0 0 0 2 0 0 CACNA1D constrhet 1201 M V 1 CACNA1D:1201:V:M ENST00000350061;NM_001128840.2 3 53785887 rs768096420 A G gnomAD Exomes PASS NA p.Met1230Val p.Met1230Val c.3688A>G missense_variant NA 4 1.92182034823385e-05 0 0 0 0 0 4 0 0 CACNA1D constrhet 1210 V M 1 CACNA1D:1210:M:V ENST00000350061;NM_001128840.2 3 53785929 rs896838045 A G gnomAD Exomes PASS NA p.Met1244Val p.Met1244Val c.3730A>G missense_variant NA 3 1.44136526117539e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 1224 V M 1 CACNA1D:1224:M:V ENST00000350061;NM_001128840.2 3 53787605 rs777098313 G A gnomAD Exomes PASS NA p.Glu1248Lys p.Glu1248Lys c.3742G>A missense_variant NA 2 9.60919407689277e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1228 K E 1 CACNA1D:1228:E:K ENST00000350061;NM_001128840.2 3 53787617 rs759853974 A G gnomAD Exomes PASS NA p.Met1252Val p.Met1252Val c.3754A>G missense_variant NA 4 1.92182034823385e-05 0 0 0 0 0 0 0 4 CACNA1D constrhet 1232 V M 1 CACNA1D:1232:M:V ENST00000350061;NM_001128840.2 3 53787622 rs751188326 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1253Leu p.Phe1253Leu c.3759C>A missense_variant NA 2 8.71854783867199e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1233 L F 1 CACNA1D:1233:F:L ENST00000350061;NM_001128840.2 3 53787624 rs147146258 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1254Ser p.Asn1254Ser c.3761A>G missense_variant NA 126 0.000549263725054273 3 20 0 12 0 74 5 12 CACNA1D constrhet 1234 S N 1 CACNA1D:1234:N:S ENST00000350061;NM_001128840.2 3 53787624 rs147146258 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1254Ile p.Asn1254Ile c.3761A>T missense_variant NA 3 1.30777077393874e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 1234 I N 1 CACNA1D:1234:N:I ENST00000350061;NM_001128840.2 3 53787632 rs767083533 A G gnomAD Exomes PASS NA p.Met1257Val p.Met1257Val c.3769A>G missense_variant NA 6 2.88273052235077e-05 0 0 0 0 0 6 0 0 CACNA1D constrhet 1237 V M 1 CACNA1D:1237:M:V ENST00000350061;NM_001128840.2 3 53787649 rs184010364 G A gnomAD Exomes PASS NA p.Met1262Ile p.Met1262Ile c.3786G>A missense_variant NA 2 9.60910174116923e-06 2 0 0 0 0 0 0 0 CACNA1D constrhet 1242 I M 1 CACNA1D:1242:M:I ENST00000350061;NM_001128840.2 3 53787651 rs756094397 T C gnomAD Exomes PASS NA p.Val1263Ala p.Val1263Ala c.3788T>C missense_variant NA 5 2.40227543529231e-05 0 0 0 0 0 4 1 0 CACNA1D constrhet 1243 A V 1 CACNA1D:1243:V:A ENST00000350061;NM_001128840.2 3 53787654 rs779878981 T A gnomAD Exomes PASS NA p.Phe1264Tyr p.Phe1264Tyr c.3791T>A missense_variant NA 3 1.44136526117539e-05 0 3 0 0 0 0 0 0 CACNA1D constrhet 1244 Y F 1 CACNA1D:1244:F:Y ENST00000350061;NM_001128840.2 3 53787662 rs754732747 G T gnomAD Exomes PASS NA p.Val1267Leu p.Val1267Leu c.3799G>T missense_variant NA 22 0.00010570113484582 0 0 0 0 0 0 0 22 CACNA1D constrhet 1247 L V 1 CACNA1D:1247:V:L ENST00000350061;NM_001128840.2 3 53787671 rs748437057 G A gnomAD Exomes PASS NA p.Val1270Ile p.Val1270Ile c.3808G>A missense_variant NA 7 3.36321792691247e-05 0 0 0 0 0 7 0 0 CACNA1D constrhet 1250 I V 1 CACNA1D:1250:V:I ENST00000350061;NM_001128840.2 3 53796059 rs200382504 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1294Phe p.Ser1294Phe c.3881C>T missense_variant NA 53 0.000231045546488108 0 9 4 0 0 34 3 3 CACNA1D constrhet 1274 F S 1 CACNA1D:1274:S:F ENST00000350061;NM_001128840.2 3 53796067 rs1329352704 G A gnomAD Exomes PASS NA p.Val1297Ile p.Val1297Ile c.3889G>A missense_variant NA 2 9.60919407689277e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1277 I V 1 CACNA1D:1277:V:I ENST00000350061;NM_001128840.2 3 53796091 rs144474773 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1305Thr p.Ala1305Thr c.3913G>A missense_variant NA 60 0.000261565557047448 3 6 0 0 3 48 0 0 CACNA1D constrhet 1285 T A 1 CACNA1D:1285:A:T ENST00000350061;NM_001128840.2 3 53796092 rs371512946 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1305Val p.Ala1305Val c.3914C>T missense_variant NA 92 0.000401049704007882 5 1 0 78 0 0 3 5 CACNA1D constrhet 1285 V A 1 CACNA1D:1285:A:V ENST00000350061;NM_001128840.2 3 53796100 rs781171340 G A gnomAD Exomes PASS NA p.Glu1308Lys p.Glu1308Lys c.3922G>A missense_variant NA 4 1.92193115642598e-05 0 0 0 0 0 0 0 4 CACNA1D constrhet 1288 K E 1 CACNA1D:1288:E:K ENST00000350061;NM_001128840.2 3 53796103 rs1233357713 G A gnomAD Exomes PASS NA p.Ala1309Thr p.Ala1309Thr c.3925G>A missense_variant NA 2 9.60928641439087e-06 2 0 0 0 0 0 0 0 CACNA1D constrhet 1289 T A 1 CACNA1D:1289:A:T ENST00000350061;NM_001128840.2 3 53804003 rs780925951 A G gnomAD Exomes PASS NA p.Thr1312Ala p.Thr1312Ala c.3934A>G missense_variant NA 2 9.61048696337443e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1292 A T 1 CACNA1D:1292:T:A ENST00000350061;NM_001128840.2 3 53804006 rs745312784 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1313Lys p.Glu1313Lys c.3937G>A missense_variant NA 2 8.71976421757556e-06 2 0 0 0 0 0 0 0 CACNA1D constrhet 1293 K E 1 CACNA1D:1293:E:K ENST00000350061;NM_001128840.2 3 53804021 rs72556360 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1318Ser p.Pro1318Ser c.3952C>T missense_variant NA 1179 0.00514012172366287 16 26 1 0 510 570 18 38 CACNA1D constrhet 1298 S P 1 CACNA1D:1298:P:S ENST00000350061;NM_001128840.2 3 53804037 rs775567082 C T gnomAD Exomes PASS NA p.Thr1323Ile p.Thr1323Ile c.3968C>T missense_variant NA 5 2.40264483143044e-05 0 0 0 0 0 0 0 5 CACNA1D constrhet 1303 I T 1 CACNA1D:1303:T:I ENST00000350061;NM_001128840.2 3 53804039 rs1205535399 C A gnomAD Genomes NA PASS p.Pro1324Thr p.Pro1324Thr c.3970C>A missense_variant NA 2 9.40379913485048e-05 0 0 0 0 0 2 0 0 CACNA1D constrhet 1304 T P 1 CACNA1D:1304:P:T ENST00000350061;NM_001128840.2 3 53804452 rs779416991 A G gnomAD Exomes PASS NA p.Asn1326Ser p.Asn1326Ser c.3977A>G missense_variant NA 2 9.60937875366358e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1306 S N 1 CACNA1D:1306:N:S ENST00000350061;NM_001128840.2 3 53804462 rs752959799 G C gnomAD Exomes PASS NA p.Glu1329Asp p.Glu1329Asp c.3987G>C missense_variant NA 2 9.60937875366358e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1309 D E 1 CACNA1D:1309:E:D ENST00000350061;NM_001128840.2 3 53804467 rs375571185 A G gnomAD Exomes PASS NA p.Asn1331Ser p.Asn1331Ser c.3992A>G missense_variant NA 5 2.40236777367774e-05 0 0 0 0 0 5 0 0 CACNA1D constrhet 1311 S N 1 CACNA1D:1311:N:S ENST00000350061;NM_001128840.2 3 53804470 rs769400033 G C gnomAD Exomes PASS NA p.Arg1332Thr p.Arg1332Thr c.3995G>C missense_variant NA 2 9.60947109471095e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 1312 T R 1 CACNA1D:1312:R:T ENST00000350061;NM_001128840.2 3 53804530 rs148194645 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1352Lys p.Arg1352Lys c.4055G>A missense_variant NA 7 3.05173120351559e-05 0 0 0 0 0 7 0 0 CACNA1D constrhet 1332 K R 1 CACNA1D:1332:R:K ENST00000350061;NM_001128840.2 3 53804531 rs138000029 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1352Ser p.Arg1352Ser c.4056G>C missense_variant NA 18 7.84724038713053e-05 3 0 0 0 0 14 1 0 CACNA1D constrhet 1332 S R 1 CACNA1D:1332:R:S ENST00000350061;NM_001128840.2 3 53808616 rs757017962 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1391Ile p.Met1391Ile c.4173G>A missense_variant NA 4 1.74378558412458e-05 0 0 0 0 0 4 0 0 CACNA1D constrhet 1371 I M 1 CACNA1D:1371:M:I ENST00000350061;NM_001128840.2 3 53808657 rs548326759 G A gnomAD Exomes PASS NA p.Arg1405Lys p.Arg1405Lys c.4214G>A missense_variant NA 2 9.60937875366358e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1385 K R 1 CACNA1D:1385:R:K ENST00000350061;NM_001128840.2 3 53809992 rs762646899 A G gnomAD Exomes PASS NA p.Asn1448Asp p.Asn1448Asp c.4342A>G missense_variant NA 7 3.3632502450368e-05 0 0 0 0 0 7 0 0 CACNA1D constrhet 1428 D N 1 CACNA1D:1428:N:D ENST00000350061;NM_001128840.2 3 53809998 rs750386159 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1450Arg p.Gly1450Arg c.4348G>A missense_variant NA 4 1.74378558412458e-05 0 2 0 0 0 2 0 0 CACNA1D constrhet 1430 R G 1 CACNA1D:1430:G:R ENST00000350061;NM_001128840.2 3 53810031 rs754067835 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1461Val p.Ile1461Val c.4381A>G missense_variant NA 8 3.48766239428023e-05 0 0 0 8 0 0 0 0 CACNA1D constrhet 1441 V I 1 CACNA1D:1441:I:V ENST00000350061;NM_001128840.2 3 53810035 rs1426428227 T G gnomAD Exomes PASS NA p.Val1462Gly p.Val1462Gly c.4385T>G missense_variant NA 2 9.61030224400557e-06 0 0 0 0 0 0 1 1 CACNA1D constrhet 1442 G V 1 CACNA1D:1442:V:G ENST00000350061;NM_001128840.2 3 53810927 rs759583357 C T gnomAD Exomes PASS NA p.Arg1531Cys p.Arg1531Cys c.4591C>T missense_variant NA 13 6.24687656171914e-05 1 9 0 1 0 2 0 0 CACNA1D constrhet 1511 C R 1 CACNA1D:1511:R:C ENST00000350061;NM_001128840.2 3 53814129 rs765670623 G A gnomAD Exomes PASS NA p.Arg1575Gln p.Arg1575Gln c.4724G>A missense_variant NA 3 1.44137911153392e-05 0 0 2 0 0 1 0 0 CACNA1D constrhet 1555 Q R 1 CACNA1D:1555:R:Q ENST00000350061;NM_001128840.2 3 53814150 rs199780299 C T gnomAD Exomes PASS NA p.Thr1582Ile p.Thr1582Ile c.4745C>T missense_variant NA 6 2.88284132841328e-05 0 0 0 0 0 6 0 0 CACNA1D constrhet 1562 I T 1 CACNA1D:1562:T:I ENST00000350061;NM_001128840.2 3 53814152 rs755747884 G A gnomAD Exomes PASS NA p.Glu1583Lys p.Glu1583Lys c.4747G>A missense_variant NA 5 2.40255247174598e-05 0 1 0 0 0 3 0 1 CACNA1D constrhet 1563 K E 1 CACNA1D:1563:E:K ENST00000350061;NM_001128840.2 3 53815616 rs771911205 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1592Gln p.Glu1592Gln c.4774G>C missense_variant NA 3 1.30788480150668e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 1572 Q E 1 CACNA1D:1572:E:Q ENST00000350061;NM_001128840.2 3 53815619 rs373600397 C T gnomAD Exomes PASS NA p.Leu1593Phe p.Leu1593Phe c.4777C>T missense_variant NA 3 1.44146221927523e-05 0 1 0 0 0 2 0 0 CACNA1D constrhet 1573 F L 1 CACNA1D:1573:L:F ENST00000350061;NM_001128840.2 3 53815623 rs375679511 G A gnomAD Exomes PASS NA p.Arg1594Gln p.Arg1594Gln c.4781G>A missense_variant NA 2 9.60993282656954e-06 0 1 1 0 0 0 0 0 CACNA1D constrhet 1574 Q R 1 CACNA1D:1574:R:Q ENST00000350061;NM_001128840.2 3 53815628 rs770972652 G A gnomAD Exomes PASS NA p.Val1596Met p.Val1596Met c.4786G>A missense_variant NA 3 1.44144836731948e-05 0 0 0 0 0 2 1 0 CACNA1D constrhet 1576 M V 1 CACNA1D:1576:V:M ENST00000350061;NM_001128840.2 3 53815652 rs759563699 A G gnomAD Exomes PASS NA p.Thr1604Ala p.Thr1604Ala c.4810A>G missense_variant NA 2 9.60956343753303e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1584 A T 1 CACNA1D:1584:T:A ENST00000350061;NM_001128840.2 3 53820920 rs145414503 C T gnomAD Exomes PASS NA p.Arg1642Trp p.Arg1642Trp c.4924C>T missense_variant NA 3 1.44151762976061e-05 0 1 0 0 0 2 0 0 CACNA1D constrhet 1622 W R 1 CACNA1D:1622:R:W ENST00000350061;NM_001128840.2 3 53820948 rs759078326 A G gnomAD Exomes PASS NA p.Tyr1651Cys p.Tyr1651Cys c.4952A>G missense_variant NA 3 1.44146221927523e-05 0 2 0 0 0 0 1 0 CACNA1D constrhet 1631 C Y 1 CACNA1D:1631:Y:C ENST00000350061;NM_001128840.2 3 53820968 rs746613836 A G gnomAD Exomes PASS NA p.Ile1658Val p.Ile1658Val c.4972A>G missense_variant NA 2 9.61002517826597e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1638 V I 1 CACNA1D:1638:I:V ENST00000350061;NM_001128840.2 3 53834295 rs763635817 A T gnomAD Exomes PASS NA p.His1668Leu p.His1668Leu c.5003A>T missense_variant NA 2 9.60910174116923e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1648 L H 1 CACNA1D:1648:H:L ENST00000350061;NM_001128840.2 3 53834348 rs758791188 G A gnomAD Exomes PASS NA p.Glu1686Lys p.Glu1686Lys c.5056G>A missense_variant NA 3 1.44136526117539e-05 0 1 0 0 0 1 0 1 CACNA1D constrhet 1666 K E 1 CACNA1D:1666:E:K ENST00000350061;NM_001128840.2 3 53834350 rs368500737 G T gnomAD Exomes PASS NA p.Glu1686Asp p.Glu1686Asp c.5058G>T missense_variant NA 7 3.36318560940923e-05 0 7 0 0 0 0 0 0 CACNA1D constrhet 1666 D E 1 CACNA1D:1666:E:D ENST00000350061;NM_001128840.2 3 53834367 rs148898845 G A gnomAD Exomes PASS NA p.Arg1692Gln p.Arg1692Gln c.5075G>A missense_variant NA 5 2.40232160359772e-05 0 3 0 0 0 0 0 2 CACNA1D constrhet 1672 Q R 1 CACNA1D:1672:R:Q ENST00000350061;NM_001128840.2 3 53834369 rs147973409 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1693Lys p.Glu1693Lys c.5077G>A missense_variant NA 147 0.000640818853152218 0 8 1 0 7 128 3 0 CACNA1D constrhet 1673 K E 1 CACNA1D:1673:E:K ENST00000350061;NM_001128840.2 3 53834380 rs748990289 T A gnomAD Exomes PASS NA p.Asp1696Glu p.Asp1696Glu c.5088T>A missense_variant NA 2 9.60910174116923e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 1676 E D 1 CACNA1D:1676:D:E ENST00000350061;NM_001128840.2 3 53835145 rs376144085 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1721Phe p.Leu1721Phe c.5161C>T missense_variant NA 4 1.74395284351511e-05 0 0 3 0 0 1 0 0 CACNA1D constrhet 1701 F L 1 CACNA1D:1701:L:F ENST00000350061;NM_001128840.2 3 53835209 rs759409255 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1742Thr p.Ser1742Thr c.5225G>C missense_variant NA 6 2.6162942807807e-05 4 2 0 0 0 0 0 0 CACNA1D constrhet 1722 T S 1 CACNA1D:1722:S:T ENST00000350061;NM_001128840.2 3 53835224 rs775837923 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1747Leu p.Pro1747Leu c.5240C>T missense_variant NA 5 2.18016918112846e-05 0 0 0 0 0 3 0 2 CACNA1D constrhet 1727 L P 1 CACNA1D:1727:P:L ENST00000350061;NM_001128840.2 3 53835247 rs1416266402 T G gnomAD Exomes PASS NA p.Ser1755Ala p.Ser1755Ala c.5263T>G missense_variant NA 2 9.61141066674356e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1735 A S 1 CACNA1D:1735:S:A ENST00000350061;NM_001128840.2 3 53835248 rs1461261149 C T gnomAD Exomes PASS NA p.Ser1755Leu p.Ser1755Leu c.5264C>T missense_variant NA 3 1.44175317185698e-05 0 0 0 1 0 1 1 0 CACNA1D constrhet 1735 L S 1 CACNA1D:1735:S:L ENST00000350061;NM_001128840.2 3 53835263 rs764285234 A G gnomAD Exomes PASS NA p.His1760Arg p.His1760Arg c.5279A>G missense_variant NA 32 0.000153750060058617 0 0 0 0 0 0 1 31 CACNA1D constrhet 1740 R H 1 CACNA1D:1740:H:R ENST00000350061;NM_001128840.2 3 53835299 rs201147414 C T gnomAD Exomes PASS NA p.Thr1772Ile p.Thr1772Ile c.5315C>T missense_variant NA 206 0.000989746989919955 0 0 0 0 0 0 0 206 CACNA1D constrhet 1752 I T 1 CACNA1D:1752:T:I ENST00000350061;NM_001128840.2 3 53835305 rs1295073545 C A gnomAD Exomes PASS NA p.Thr1774Lys p.Thr1774Lys c.5321C>A missense_variant NA 2 9.60919407689277e-06 0 2 0 0 0 0 0 0 CACNA1D constrhet 1754 K T 1 CACNA1D:1754:T:K ENST00000350061;NM_001128840.2 3 53835340 rs199874790 G A gnomAD Exomes PASS NA p.Ala1786Thr p.Ala1786Thr c.5356G>A missense_variant NA 2 9.60919407689277e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1766 T A 1 CACNA1D:1766:A:T ENST00000350061;NM_001128840.2 3 53835340 rs199874790 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1786Pro p.Ala1786Pro c.5356G>C missense_variant NA 55 0.000239757975222103 5 0 0 0 1 49 0 0 CACNA1D constrhet 1766 P A 1 CACNA1D:1766:A:P ENST00000350061;NM_001128840.2 3 53835355 rs535459203 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1791Trp p.Arg1791Trp c.5371C>T missense_variant NA 16 6.97556807282493e-05 4 5 0 1 0 3 1 2 CACNA1D constrhet 1771 W R 1 CACNA1D:1771:R:W ENST00000350061;NM_001128840.2 3 53835365 rs758936849 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1794Asn p.Ile1794Asn c.5381T>A missense_variant NA 6 2.61563276515977e-05 0 1 0 0 0 5 0 0 CACNA1D constrhet 1774 N I 1 CACNA1D:1774:I:N ENST00000350061;NM_001128840.2 3 53835421 rs555675934 C T gnomAD Exomes PASS NA p.Arg1813Trp p.Arg1813Trp c.5437C>T missense_variant NA 6 2.88342320002307e-05 0 0 0 1 0 0 0 5 CACNA1D constrhet 1793 W R 1 CACNA1D:1793:R:W ENST00000350061;NM_001128840.2 3 53835422 rs143003364 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1813Gln p.Arg1813Gln c.5438G>A missense_variant NA 82 0.000357582047636906 59 20 0 0 0 3 0 0 CACNA1D constrhet 1793 Q R 1 CACNA1D:1793:R:Q ENST00000350061;NM_001128840.2 3 53835432 rs1348788074 G C gnomAD Exomes PASS NA p.Gln1816His p.Gln1816His c.5448G>C missense_variant NA 3 1.44215515666612e-05 2 0 0 0 0 0 1 0 CACNA1D constrhet 1796 H Q 1 CACNA1D:1796:Q:H ENST00000350061;NM_001128840.2 3 53835446 rs757029372 T G gnomAD Exomes PASS NA p.Val1821Gly p.Val1821Gly c.5462T>G missense_variant NA 2 9.62093515489706e-06 0 0 0 0 2 0 0 0 CACNA1D constrhet 1801 G V 1 CACNA1D:1801:V:G ENST00000350061;NM_001128840.2 3 53836178 rs376315757 C T gnomAD Exomes PASS NA p.Arg1825Cys p.Arg1825Cys c.5473C>T missense_variant NA 13 6.24627625838442e-05 2 0 0 0 2 8 1 0 CACNA1D constrhet 1805 C R 1 CACNA1D:1805:R:C ENST00000350061;NM_001128840.2 3 53836179 rs754161736 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1825His p.Arg1825His c.5474G>A missense_variant NA 2 8.71923201004456e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1805 H R 1 CACNA1D:1805:R:H ENST00000350061;NM_001128840.2 3 53836182 rs369626956 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr1826Cys p.Tyr1826Cys c.5477A>G missense_variant NA 6 2.6157239888047e-05 6 0 0 0 0 0 0 0 CACNA1D constrhet 1806 C Y 1 CACNA1D:1806:Y:C ENST00000350061;NM_001128840.2 3 53836185 rs763788750 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr1827Cys p.Tyr1827Cys c.5480A>G missense_variant NA 5 2.17965596310278e-05 0 0 0 0 0 5 0 0 CACNA1D constrhet 1807 C Y 1 CACNA1D:1807:Y:C ENST00000350061;NM_001128840.2 3 53836200 rs568955412 G C gnomAD Exomes PASS NA p.Arg1832Thr p.Arg1832Thr c.5495G>C missense_variant NA 2 9.60956343753303e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1812 T R 1 CACNA1D:1812:R:T ENST00000350061;NM_001128840.2 3 53837454 rs767284638 G A gnomAD Exomes PASS NA p.Asp1834Asn p.Asp1834Asn c.5500G>A missense_variant NA 22 0.000105711292849112 0 1 0 17 0 3 0 1 CACNA1D constrhet 1814 N D 1 CACNA1D:1814:D:N ENST00000350061;NM_001128840.2 3 53837467 rs755639163 A C gnomAD Exomes PASS NA p.Glu1838Ala p.Glu1838Ala c.5513A>C missense_variant NA 2 9.60947109471095e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1818 A E 1 CACNA1D:1818:E:A ENST00000350061;NM_001128840.2 3 53837487 rs144688228 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1845Trp p.Arg1845Trp c.5533C>T missense_variant NA 63 0.000274629468177855 3 3 0 3 0 20 1 33 CACNA1D constrhet 1825 W R 1 CACNA1D:1825:R:W ENST00000350061;NM_001128840.2 3 53837488 rs139829141 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1845Gln p.Arg1845Gln c.5534G>A missense_variant NA 27 0.000117699369654487 5 0 0 5 2 11 0 4 CACNA1D constrhet 1825 Q R 1 CACNA1D:1825:R:Q ENST00000350061;NM_001128840.2 3 53837524 rs777163376 C T gnomAD Exomes PASS NA p.Pro1857Leu p.Pro1857Leu c.5570C>T missense_variant NA 3 1.44143451562995e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 1837 L P 1 CACNA1D:1837:P:L ENST00000350061;NM_001128840.2 3 53837571 rs767266272 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1873Lys p.Glu1873Lys c.5617G>A missense_variant NA 4 1.74457654765747e-05 2 0 0 0 0 2 0 0 CACNA1D constrhet 1853 K E 1 CACNA1D:1853:E:K ENST00000350061;NM_001128840.2 3 53837582 rs1280489244 C A gnomAD Exomes PASS NA p.Ser1876Arg p.Ser1876Arg c.5628C>A missense_variant NA 3 1.44293203790101e-05 0 3 0 0 0 0 0 0 CACNA1D constrhet 1856 R S 1 CACNA1D:1856:S:R ENST00000350061;NM_001128840.2 3 53837584 rs772809958 C T gnomAD Exomes PASS NA p.Ser1877Leu p.Ser1877Leu c.5630C>T missense_variant NA 3 1.44304308926665e-05 0 0 0 1 0 1 0 1 CACNA1D constrhet 1857 L S 1 CACNA1D:1857:S:L ENST00000350061;NM_001128840.2 3 53839035 rs756330247 T C gnomAD Exomes PASS NA p.Tyr1891His p.Tyr1891His c.5671T>C missense_variant NA 2 9.6150148071228e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 1871 H Y 1 CACNA1D:1871:Y:H ENST00000350061;NM_001128840.2 3 53839053 rs547120247 G A gnomAD Exomes PASS NA p.Asp1897Asn p.Asp1897Asn c.5689G>A missense_variant NA 2 9.60956343753303e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 1877 N D 1 CACNA1D:1877:D:N ENST00000350061;NM_001128840.2 3 53839069 rs375782771 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1902Gln p.Arg1902Gln c.5705G>A missense_variant NA 13 5.66769847844095e-05 0 0 0 0 0 13 0 0 CACNA1D constrhet 1882 Q R 1 CACNA1D:1882:R:Q ENST00000350061;NM_001128840.2 3 53839077 rs769332902 C T gnomAD Exomes PASS NA p.His1905Tyr p.His1905Tyr c.5713C>T missense_variant NA 2 9.60984047664809e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1885 Y H 1 CACNA1D:1885:H:Y ENST00000350061;NM_001128840.2 3 53839104 rs199515604 G A gnomAD Exomes PASS NA p.Asp1914Asn p.Asp1914Asn c.5740G>A missense_variant NA 2 9.61048696337443e-06 0 0 0 1 0 1 0 0 CACNA1D constrhet 1894 N D 1 CACNA1D:1894:D:N ENST00000350061;NM_001128840.2 3 53839111 rs368496441 C T gnomAD Exomes PASS NA p.Ser1916Leu p.Ser1916Leu c.5747C>T missense_variant NA 9 4.3247191335185e-05 0 5 0 0 0 2 0 2 CACNA1D constrhet 1896 L S 1 CACNA1D:1896:S:L ENST00000350061;NM_001128840.2 3 53839113 rs569507177 C G gnomAD Exomes PASS NA p.Pro1917Ala p.Pro1917Ala c.5749C>G missense_variant NA 2 9.61030224400557e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1897 A P 1 CACNA1D:1897:P:A ENST00000350061;NM_001128840.2 3 53839116 rs142184099 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1918Ile p.Val1918Ile c.5752G>A missense_variant NA 35 0.000152615835419083 19 6 0 0 0 10 0 0 CACNA1D constrhet 1898 I V 1 CACNA1D:1898:V:I ENST00000350061;NM_001128840.2 3 53839119 rs779483775 T G gnomAD Exomes PASS NA p.Cys1919Gly p.Cys1919Gly c.5755T>G missense_variant NA 2 9.61039460280239e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1899 G C 1 CACNA1D:1899:C:G ENST00000350061;NM_001128840.2 3 53839120 rs748445000 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys1919Tyr p.Cys1919Tyr c.5756G>A missense_variant NA 2 8.72075277537957e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1899 Y C 1 CACNA1D:1899:C:Y ENST00000350061;NM_001128840.2 3 53839123 rs772551322 A G gnomAD Exomes PASS NA p.Tyr1920Cys p.Tyr1920Cys c.5759A>G missense_variant NA 6 2.88339548652493e-05 0 0 0 0 3 2 0 1 CACNA1D constrhet 1900 C Y 1 CACNA1D:1900:Y:C ENST00000350061;NM_001128840.2 3 53839132 rs373251538 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1923Gln p.Arg1923Gln c.5768G>A missense_variant NA 7 3.05298232759373e-05 0 0 0 0 0 4 0 3 CACNA1D constrhet 1903 Q R 1 CACNA1D:1903:R:Q ENST00000350061;NM_001128840.2 3 53839159 rs761482709 C A gnomAD Exomes PASS NA p.Pro1932His p.Pro1932His c.5795C>A missense_variant NA 2 9.62816044366563e-06 0 0 0 2 0 0 0 0 CACNA1D constrhet 1912 H P 1 CACNA1D:1912:P:H ENST00000350061;NM_001128840.2 3 53842678 rs760564550 C G gnomAD Exomes PASS NA p.His1938Asp p.His1938Asp c.5812C>G missense_variant NA 2 9.84251968503937e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1918 D H 1 CACNA1D:1918:H:D ENST00000350061;NM_001128840.2 3 53842681 rs571923567 C T gnomAD Exomes PASS NA p.Arg1939Trp p.Arg1939Trp c.5815C>T missense_variant NA 6 2.95002655023895e-05 0 1 0 0 0 5 0 0 CACNA1D constrhet 1919 W R 1 CACNA1D:1919:R:W ENST00000350061;NM_001128840.2 3 53842682 rs777056686 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1939Gln p.Arg1939Gln c.5816G>A missense_variant NA 6 2.66934787831333e-05 1 0 0 0 1 4 0 0 CACNA1D constrhet 1919 Q R 1 CACNA1D:1919:R:Q ENST00000350061;NM_001128840.2 3 53842685 rs765406325 G C gnomAD Exomes PASS NA p.Arg1940Thr p.Arg1940Thr c.5819G>C missense_variant NA 2 9.81652907165084e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1920 T R 1 CACNA1D:1920:R:T ENST00000350061;NM_001128840.2 3 53842697 rs752740909 A C gnomAD Exomes PASS NA p.Asn1944Thr p.Asn1944Thr c.5831A>C missense_variant NA 2 9.78559755751485e-06 0 0 0 2 0 0 0 0 CACNA1D constrhet 1924 T N 1 CACNA1D:1924:N:T ENST00000350061;NM_001128840.2 3 53842711 rs751909241 C T gnomAD Exomes PASS NA p.Arg1949Cys p.Arg1949Cys c.5845C>T missense_variant NA 2 9.78196010916667e-06 0 0 0 0 1 0 0 1 CACNA1D constrhet 1929 C R 1 CACNA1D:1929:R:C ENST00000350061;NM_001128840.2 3 53842714 rs368181208 C T gnomAD Exomes PASS NA p.Arg1950Trp p.Arg1950Trp c.5848C>T missense_variant NA 2 9.77507551245833e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 1930 W R 1 CACNA1D:1930:R:W ENST00000350061;NM_001128840.2 3 53842738 rs773336682 C G gnomAD Exomes PASS NA p.Pro1958Ala p.Pro1958Ala c.5872C>G missense_variant NA 5 2.44759694931516e-05 0 0 0 0 0 4 1 0 CACNA1D constrhet 1938 A P 1 CACNA1D:1938:P:A ENST00000350061;NM_001128840.2 3 53842738 rs773336682 C T gnomAD Exomes PASS NA p.Pro1958Ser p.Pro1958Ser c.5872C>T missense_variant NA 2 9.79038779726065e-06 0 0 0 0 1 0 0 1 CACNA1D constrhet 1938 S P 1 CACNA1D:1938:P:S ENST00000350061;NM_001128840.2 3 53842739 rs770886605 C T gnomAD Exomes PASS NA p.Pro1958Leu p.Pro1958Leu c.5873C>T missense_variant NA 10 4.89394814372547e-05 0 4 0 3 0 2 1 0 CACNA1D constrhet 1938 L P 1 CACNA1D:1938:P:L ENST00000350061;NM_001128840.2 3 53842742 rs759752832 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1959Leu p.Ser1959Leu c.5876C>T missense_variant NA 3 1.33007022770802e-05 0 0 0 2 0 1 0 0 CACNA1D constrhet 1939 L S 1 CACNA1D:1939:S:L ENST00000350061;NM_001128840.2 3 53842760 rs762956075 A G gnomAD Exomes PASS NA p.His1965Arg p.His1965Arg c.5894A>G missense_variant NA 2 9.8080563374756e-06 0 1 0 0 0 1 0 0 CACNA1D constrhet 1945 R H 1 CACNA1D:1945:H:R ENST00000350061;NM_001128840.2 3 53842763 rs150366975 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1966His p.Arg1966His c.5897G>A missense_variant NA 9 4.00512656199936e-05 0 0 0 0 0 9 0 0 CACNA1D constrhet 1946 H R 1 CACNA1D:1946:R:H ENST00000350061;NM_001128840.2 3 53842766 rs752102016 C T gnomAD Exomes PASS NA p.Thr1967Met p.Thr1967Met c.5900C>T missense_variant NA 2 9.82656119490984e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 1947 M T 1 CACNA1D:1947:T:M ENST00000350061;NM_001128840.2 3 53844020 rs769517898 G A gnomAD Exomes PASS NA p.Gly1983Ser p.Gly1983Ser c.5947G>A missense_variant NA 5 2.42447752509334e-05 0 3 0 0 0 2 0 0 CACNA1D constrhet 1963 S G 1 CACNA1D:1963:G:S ENST00000350061;NM_001128840.2 3 53844047 rs768899746 T C gnomAD Exomes PASS NA p.Tyr1992His p.Tyr1992His c.5974T>C missense_variant NA 4 1.93229247178853e-05 0 0 0 0 0 4 0 0 CACNA1D constrhet 1972 H Y 1 CACNA1D:1972:Y:H ENST00000350061;NM_001128840.2 3 53844054 rs761898369 C T gnomAD Exomes PASS NA p.Pro1994Leu p.Pro1994Leu c.5981C>T missense_variant NA 8 3.86104112974063e-05 0 1 0 0 0 2 1 4 CACNA1D constrhet 1974 L P 1 CACNA1D:1974:P:L ENST00000350061;NM_001128840.2 3 53844063 rs202077075 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1997Leu p.Ser1997Leu c.5990C>T missense_variant NA 9 3.93600923650167e-05 1 3 0 0 0 3 1 1 CACNA1D constrhet 1977 L S 1 CACNA1D:1977:S:L ENST00000350061;NM_001128840.2 3 53844068 rs777154919 C T gnomAD Exomes PASS NA p.Arg1999Trp p.Arg1999Trp c.5995C>T missense_variant NA 5 2.40940632228219e-05 0 1 0 2 0 1 0 1 CACNA1D constrhet 1979 W R 1 CACNA1D:1979:R:W ENST00000350061;NM_001128840.2 3 53844069 rs143354476 G A gnomAD Exomes PASS NA p.Arg1999Gln p.Arg1999Gln c.5996G>A missense_variant NA 34 0.000163826998689384 1 0 1 1 0 5 0 26 CACNA1D constrhet 1979 Q R 1 CACNA1D:1979:R:Q ENST00000350061;NM_001128840.2 3 53844069 rs143354476 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1999Pro p.Arg1999Pro c.5996G>C missense_variant NA 21 9.1792845403364e-05 1 0 0 0 2 17 1 0 CACNA1D constrhet 1979 P R 1 CACNA1D:1979:R:P ENST00000350061;NM_001128840.2 3 53844104 rs367976757 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2011Trp p.Arg2011Trp c.6031C>T missense_variant NA 12 5.23848188794887e-05 9 1 0 0 0 1 0 1 CACNA1D constrhet 1991 W R 1 CACNA1D:1991:R:W ENST00000350061;NM_001128840.2 3 53844105 rs570389846 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2011Gln p.Arg2011Gln c.6032G>A missense_variant NA 3 1.30949470964137e-05 1 1 0 1 0 0 0 0 CACNA1D constrhet 1991 Q R 1 CACNA1D:1991:R:Q ENST00000350061;NM_001128840.2 3 53844117 rs780303719 C T gnomAD Exomes PASS NA p.Pro2015Leu p.Pro2015Leu c.6044C>T missense_variant NA 2 9.61889921317404e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 1995 L P 1 CACNA1D:1995:P:L ENST00000350061;NM_001128840.2 3 53844123 rs879161514 A G gnomAD Exomes PASS NA p.Tyr2017Cys p.Tyr2017Cys c.6050A>G missense_variant NA 3 1.44270998643853e-05 0 0 0 1 0 0 0 2 CACNA1D constrhet 1997 C Y 1 CACNA1D:1997:Y:C ENST00000350061;NM_001128840.2 3 53844126 rs141581705 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2018Asn p.Thr2018Asn c.6053C>A missense_variant NA 50 0.000218212923442178 1 0 0 0 1 47 0 1 CACNA1D constrhet 1998 N T 1 CACNA1D:1998:T:N ENST00000350061;NM_001128840.2 3 53844167 rs371748395 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2032Met p.Val2032Met c.6094G>A missense_variant NA 5 2.18161509328586e-05 5 0 0 0 0 0 0 0 CACNA1D constrhet 2012 M V 1 CACNA1D:2012:V:M ENST00000350061;NM_001128840.2 3 53844173 rs368340190 G A gnomAD Exomes PASS NA p.Gly2034Ser p.Gly2034Ser c.6100G>A missense_variant NA 7 3.36674426210585e-05 0 0 0 0 0 7 0 0 CACNA1D constrhet 2014 S G 1 CACNA1D:2014:G:S ENST00000350061;NM_001128840.2 3 53844191 rs200170591 C T gnomAD Exomes PASS NA p.His2040Tyr p.His2040Tyr c.6118C>T missense_variant NA 3 1.44259898633378e-05 0 2 0 1 0 0 0 0 CACNA1D constrhet 2020 Y H 1 CACNA1D:2020:H:Y ENST00000350061;NM_001128840.2 3 53844194 rs779080006 C T gnomAD Exomes PASS NA p.Arg2041Cys p.Arg2041Cys c.6121C>T missense_variant NA 7 3.36612904777018e-05 0 0 0 0 2 0 0 5 CACNA1D constrhet 2021 C R 1 CACNA1D:2021:R:C ENST00000350061;NM_001128840.2 3 53844195 rs748413924 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2041His p.Arg2041His c.6122G>A missense_variant NA 4 1.74510933109959e-05 0 1 0 0 0 3 0 0 CACNA1D constrhet 2021 H R 1 CACNA1D:2021:R:H ENST00000350061;NM_001128840.2 3 53844209 rs145573139 A G gnomAD Exomes PASS NA p.Thr2046Ala p.Thr2046Ala c.6136A>G missense_variant NA 3 1.44237703735757e-05 1 0 0 0 0 2 0 0 CACNA1D constrhet 2026 A T 1 CACNA1D:2026:T:A ENST00000350061;NM_001128840.2 3 53844215 rs771286149 G A gnomAD Exomes PASS NA p.Glu2048Lys p.Glu2048Lys c.6142G>A missense_variant NA 5 2.40407731512645e-05 0 0 0 0 1 2 0 2 CACNA1D constrhet 2028 K E 1 CACNA1D:2028:E:K ENST00000350061;NM_001128840.2 3 53844221 rs770332315 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp2050Asn p.Asp2050Asn c.6148G>A missense_variant NA 3 1.30891194513041e-05 0 0 0 2 0 1 0 0 CACNA1D constrhet 2030 N D 1 CACNA1D:2030:D:N ENST00000350061;NM_001128840.2 3 53844233 rs142692903 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2054Trp p.Arg2054Trp c.6160C>T missense_variant NA 19 8.29071614333339e-05 6 11 0 1 0 0 1 0 CACNA1D constrhet 2034 W R 1 CACNA1D:2034:R:W ENST00000350061;NM_001128840.2 3 53844234 rs771758707 G A gnomAD Exomes PASS NA p.Arg2054Gln p.Arg2054Gln c.6161G>A missense_variant NA 25 0.000120237396716076 0 1 0 0 0 3 0 21 CACNA1D constrhet 2034 Q R 1 CACNA1D:2034:R:Q ENST00000350061;NM_001128840.2 3 53844275 rs552738200 C T gnomAD Exomes PASS NA p.Arg2068Trp p.Arg2068Trp c.6202C>T missense_variant NA 18 8.66617879289759e-05 0 0 0 8 0 3 0 7 CACNA1D constrhet 2048 W R 1 CACNA1D:2048:R:W ENST00000350061;NM_001128840.2 3 53844276 rs752571686 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2068Gln p.Arg2068Gln c.6203G>A missense_variant NA 7 3.05826430393904e-05 0 0 0 1 1 5 0 0 CACNA1D constrhet 2048 Q R 1 CACNA1D:2048:R:Q ENST00000350061;NM_001128840.2 3 53844290 rs778071347 G A gnomAD Exomes PASS NA p.Asp2073Asn p.Asp2073Asn c.6217G>A missense_variant NA 3 1.44703839475207e-05 0 0 0 0 1 1 0 1 CACNA1D constrhet 2053 N D 1 CACNA1D:2053:D:N ENST00000350061;NM_001128840.2 3 53844306 rs757425708 C T gnomAD Exomes PASS NA p.Ala2078Val p.Ala2078Val c.6233C>T missense_variant NA 3 1.45132263869807e-05 2 0 0 1 0 0 0 0 CACNA1D constrhet 2058 V A 1 CACNA1D:2058:A:V ENST00000350061;NM_001128840.2 3 53845152 rs373783390 G A gnomAD Exomes PASS NA p.Glu2089Lys p.Glu2089Lys c.6265G>A missense_variant NA 3 1.4415037767399e-05 2 0 0 0 0 1 0 0 CACNA1D constrhet 2069 K E 1 CACNA1D:2069:E:K ENST00000350061;NM_001128840.2 3 53845162 rs770605004 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2092Glu p.Gly2092Glu c.6275G>A missense_variant NA 5 2.17978899642515e-05 0 0 0 0 0 5 0 0 CACNA1D constrhet 2072 E G 1 CACNA1D:2072:G:E ENST00000350061;NM_001128840.2 3 53845164 rs140215004 C T gnomAD Exomes PASS NA p.Arg2093Cys p.Arg2093Cys c.6277C>T missense_variant NA 10 4.80478171876652e-05 2 0 1 0 0 7 0 0 CACNA1D constrhet 2073 C R 1 CACNA1D:2073:R:C ENST00000350061;NM_001128840.2 3 53845165 rs745397912 G A gnomAD Exomes PASS NA p.Arg2093His p.Arg2093His c.6278G>A missense_variant NA 3 1.44148992398543e-05 0 0 0 0 0 3 0 0 CACNA1D constrhet 2073 H R 1 CACNA1D:2073:R:H ENST00000350061;NM_001128840.2 3 53845184 rs1260954979 A C gnomAD Genomes NA PASS p.Lys2099Asn p.Lys2099Asn c.6297A>C missense_variant NA 2 9.41087897609637e-05 0 0 0 1 0 0 1 0 CACNA1D constrhet 2079 N K 1 CACNA1D:2079:K:N ENST00000350061;NM_001128840.2 3 53845185 rs762624826 T C gnomAD Exomes PASS NA p.Phe2100Leu p.Phe2100Leu c.6298T>C missense_variant NA 4 1.92187575073272e-05 0 0 0 4 0 0 0 0 CACNA1D constrhet 2080 L F 1 CACNA1D:2080:F:L ENST00000350061;NM_001128840.2 3 53845197 rs1391568387 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2104Ala p.Thr2104Ala c.6310A>G missense_variant NA 6 2.61567837618686e-05 4 1 0 0 0 1 0 0 CACNA1D constrhet 2084 A T 1 CACNA1D:2084:T:A ENST00000350061;NM_001128840.2 3 53845206 rs762059527 G A gnomAD Exomes PASS NA p.Glu2107Lys p.Glu2107Lys c.6319G>A missense_variant NA 2 9.60984047664809e-06 1 0 0 0 0 0 0 1 CACNA1D constrhet 2087 K E 1 CACNA1D:2087:E:K ENST00000350061;NM_001128840.2 3 53845233 rs200161467 A T gnomAD Exomes PASS NA p.Ile2116Phe p.Ile2116Phe c.6346A>T missense_variant NA 2 9.61002517826597e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 2096 F I 1 CACNA1D:2096:I:F ENST00000350061;NM_001128840.2 3 53845236 rs41276455 G A gnomAD Exomes PASS NA p.Asp2117Asn p.Asp2117Asn c.6349G>A missense_variant NA 4 1.92207892056048e-05 0 0 0 0 0 4 0 0 CACNA1D constrhet 2097 N D 1 CACNA1D:2097:D:N ENST00000350061;NM_001128840.2 3 53845263 rs745379545 C G gnomAD Exomes PASS NA p.Leu2126Val p.Leu2126Val c.6376C>G missense_variant NA 2 9.61178019781044e-06 0 0 0 0 0 0 0 2 CACNA1D constrhet 2106 V L 1 CACNA1D:2106:L:V ENST00000350061;NM_001128840.2 3 53845278 rs371604022 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val2131Met p.Val2131Met c.6391G>A missense_variant NA 11 4.79720889664195e-05 9 0 0 0 0 0 0 2 CACNA1D constrhet 2111 M V 1 CACNA1D:2111:V:M ENST00000350061;NM_001128840.2 3 53845281 rs886044438 C T gnomAD Exomes PASS NA p.Arg2132Cys p.Arg2132Cys c.6394C>T missense_variant NA 2 9.61510725652145e-06 0 0 0 0 0 1 0 1 CACNA1D constrhet 2112 C R 1 CACNA1D:2112:R:C ENST00000350061;NM_001128840.2 3 53845287 rs768481685 C G gnomAD Exomes PASS NA p.Arg2134Gly p.Arg2134Gly c.6400C>G missense_variant NA 15 7.21722896899478e-05 13 0 0 0 1 1 0 0 CACNA1D constrhet 2114 G R 1 CACNA1D:2114:R:G ENST00000350061;NM_001128840.2 3 53845288 rs149416995 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2134Leu p.Arg2134Leu c.6401G>T missense_variant NA 32 0.000139630676859706 32 0 0 0 0 0 0 0 CACNA1D constrhet 2114 L R 1 CACNA1D:2114:R:L ENST00000350061;NM_001128840.2 3 53845288 rs149416995 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2134Gln p.Arg2134Gln c.6401G>A missense_variant NA 5 2.18172932593291e-05 1 2 0 0 0 2 0 0 CACNA1D constrhet 2114 Q R 1 CACNA1D:2114:R:Q ENST00000350061;NM_001128840.2 3 53845296 rs773604700 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2137Arg p.Gly2137Arg c.6409G>A missense_variant NA 8 3.4896401308615e-05 0 1 0 0 0 5 1 1 CACNA1D constrhet 2117 R G 1 CACNA1D:2117:G:R ENST00000350061;NM_001128840.2 3 53845308 rs148707870 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2141Ser p.Pro2141Ser c.6421C>T missense_variant NA 6 2.61725293132328e-05 3 0 0 0 0 3 0 0 CACNA1D constrhet 2121 S P 1 CACNA1D:2121:P:S ENST00000350061;NM_001128840.2 3 53845312 rs755450141 T A gnomAD Exomes PASS NA p.Leu2142His p.Leu2142His c.6425T>A missense_variant NA 5 2.40405419699782e-05 0 0 5 0 0 0 0 0 CACNA1D constrhet 2122 H L 1 CACNA1D:2122:L:H ENST00000350061;NM_001128840.2 3 53845320 rs373663753 C T gnomAD Exomes PASS NA p.Arg2145Trp p.Arg2145Trp c.6433C>T missense_variant NA 6 2.88553098579357e-05 1 2 0 0 0 2 0 1 CACNA1D constrhet 2125 W R 1 CACNA1D:2125:R:W ENST00000350061;NM_001128840.2 3 53845321 rs753048719 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2145Gln p.Arg2145Gln c.6434G>A missense_variant NA 5 2.18157701839506e-05 0 3 0 0 0 1 0 1 CACNA1D constrhet 2125 Q R 1 CACNA1D:2125:R:Q ENST00000350061;NM_001128840.2 3 53845330 rs780793573 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr2148Cys p.Tyr2148Cys c.6443A>G missense_variant NA 2 8.72821220029501e-06 0 0 0 0 0 2 0 0 CACNA1D constrhet 2128 C Y 1 CACNA1D:2128:Y:C ENST00000350061;NM_001128840.2 3 53845342 rs779549091 A G gnomAD Exomes PASS NA p.Asp2152Gly p.Asp2152Gly c.6455A>G missense_variant NA 32 0.000154133672427413 0 32 0 0 0 0 0 0 CACNA1D constrhet 2132 G D 1 CACNA1D:2132:D:G ENST00000350061;NM_001128840.2 3 53845362 rs1461917633 G A gnomAD Exomes PASS NA p.Asp2159Asn p.Asp2159Asn c.6475G>A missense_variant NA 2 9.73122360405597e-06 2 0 0 0 0 0 0 0 CACNA1D constrhet 2139 N D 1 CACNA1D:2139:D:N ENST00000350061;NM_001128840.2 3 53845378 rs747919321 C A gnomAD Exomes PASS NA p.Pro2164His p.Pro2164His c.6491C>A missense_variant NA 6 2.96407540607833e-05 0 6 0 0 0 0 0 0 CACNA1D constrhet 2144 H P 1 CACNA1D:2144:P:H ENST00000350061;NM_001128840.2 3 53845384 rs150838215 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2166Lys p.Arg2166Lys c.6497G>A missense_variant NA 103 0.000468411765775926 86 13 0 0 0 0 4 0 CACNA1D constrhet 2146 K R 1 CACNA1D:2146:R:K ENST00000350061;NM_001128840.2 3 53845416 rs1428483747 T C gnomAD Exomes PASS NA p.Cys2177Arg p.Cys2177Arg c.6529T>C missense_variant NA 2 1.08338840557728e-05 1 0 0 0 0 0 0 1 CACNA1D constrhet 2157 R C 1 CACNA1D:2157:C:R ENST00000350061;NM_001128840.2 3 53845425 rs192849222 A G gnomAD Exomes PASS NA p.Thr2180Ala p.Thr2180Ala c.6538A>G missense_variant NA 2 1.1339925610088e-05 0 0 0 0 0 2 0 0 CACNA1D constrhet 2160 A T 1 CACNA1D:2160:T:A ENST00000350061;NM_001128840.2 3 38888281 rs141241382 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1760Lys p.Asn1760Lys c.5280T>A missense_variant NA 69 0.000300834488712167 61 5 0 0 0 0 3 0 SCN11A constr 1760 K N 1 SCN11A:1760:N:K ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888322 rs1484570597 A G gnomAD Genomes NA PASS p.Tyr1747His p.Tyr1747His c.5239T>C missense_variant NA 4 0.000188430374976446 0 0 0 0 0 3 1 0 SCN11A constr 1747 H Y 1 SCN11A:1747:Y:H ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888354 rs143852849 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1736Val p.Gly1736Val c.5207G>T missense_variant NA 351 0.00153026524597597 4 14 26 0 75 226 5 1 SCN11A constr 1736 V G 1 SCN11A:1736:G:V ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888494 rs201107889 G C gnomAD Exomes PASS NA p.Phe1689Leu p.Phe1689Leu c.5067C>G missense_variant NA 36 0.000173022021858449 0 16 17 0 0 2 1 0 SCN11A constr 1689 L F 1 SCN11A:1689:F:L ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888588 rs141457896 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1658His p.Arg1658His c.4973G>A missense_variant NA 41 0.000178903366001379 1 4 0 0 0 29 3 4 SCN11A constr 1658 H R 1 SCN11A:1658:R:H ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888735 rs72869687 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1609Ile p.Thr1609Ile c.4826C>T missense_variant NA 8667 0.037803580152139 1573 1828 63 2451 139 1346 138 1129 SCN11A constr 1609 I T 1 SCN11A:1609:T:I ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888736 rs755516018 T C gnomAD Exomes PASS NA p.Thr1609Ala p.Thr1609Ala c.4825A>G missense_variant NA 62 0.000298059727323424 1 1 0 0 0 2 1 57 SCN11A constr 1609 A T 1 SCN11A:1609:T:A ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888862 rs201595463 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys1567Arg p.Cys1567Arg c.4699T>C missense_variant NA 33 0.000143950167069436 0 0 0 32 0 1 0 0 SCN11A constr 1567 R C 1 SCN11A:1567:C:R ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38888933 rs151155193 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Cys1543Tyr p.Cys1543Tyr c.4628G>A missense_variant NA 24 0.000104661811521521 22 0 0 0 0 2 0 0 SCN11A constr 1543 Y C 1 SCN11A:1543:C:Y ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38892017 rs201336927 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1428Ser p.Gly1428Ser c.4282G>A missense_variant NA 49 0.000213835599699757 0 2 0 0 0 46 1 0 SCN11A constr 1428 S G 1 SCN11A:1428:G:S ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38892218 rs150340436 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1361Asn p.Asp1361Asn c.4081G>A missense_variant NA 26 0.00011530853904081 14 8 0 0 0 4 0 0 SCN11A constr 1361 N D 1 SCN11A:1361:D:N ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38892235 rs555362768 C A gnomAD Exomes PASS NA p.Cys1355Phe p.Cys1355Phe c.4064G>T missense_variant NA 34 0.000179035944098659 0 0 0 1 0 1 0 32 SCN11A constr 1355 F C 1 SCN11A:1355:C:F ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38904784 rs577088346 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1320Ser p.Gly1320Ser c.3958G>A missense_variant NA 40 0.000175249511491987 1 0 0 0 0 0 0 39 SCN11A constr 1320 S G 1 SCN11A:1320:G:S ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38908898 rs536925812 C T gnomAD Exomes PASS NA p.Val1289Ile p.Val1289Ile c.3865G>A missense_variant NA 25 0.000120243179806841 0 21 0 0 0 2 1 1 SCN11A constr 1289 I V 1 SCN11A:1289:V:I ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38913189 rs143552154 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1169Ser p.Asn1169Ser c.3506A>G missense_variant NA 73 0.000335879267507132 0 37 0 0 2 28 6 0 SCN11A constr 1169 S N 1 SCN11A:1169:N:S ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38913706 rs141686175 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1158Pro p.Leu1158Pro c.3473T>C missense_variant NA 101 0.000440790105353199 1 2 0 0 25 71 2 0 SCN11A constr 1158 P L 1 SCN11A:1158:L:P ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38924811 rs35693485 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1044Lys p.Asn1044Lys c.3132C>G missense_variant NA 314 0.00136926565497994 241 23 12 0 0 30 5 3 SCN11A constr 1044 K N 1 SCN11A:1044:N:K ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38936089 rs181467215 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp924Asn p.Asp924Asn c.2770G>A missense_variant NA 27 0.000117784602498779 26 1 0 0 0 0 0 0 SCN11A constr 924 N D 1 SCN11A:924:D:N ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38936134 rs33985936 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val909Ile p.Val909Ile c.2725G>A missense_variant NA 50363 0.21965143968668 2267 8612 1371 1767 4285 25464 1297 5300 SCN11A constr 909 I V 1 SCN11A:909:V:I ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38936171 rs748188321 C A gnomAD Exomes PASS NA p.Glu896Asp p.Glu896Asp c.2688G>T missense_variant NA 40 0.000192218975857297 0 36 0 0 0 0 4 0 SCN11A constr 896 D E 1 SCN11A:896:E:D ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38936197 rs763133649 T C gnomAD Exomes PASS NA p.Lys888Glu p.Lys888Glu c.2662A>G missense_variant NA 46 0.0002210433244916 0 0 0 0 0 0 1 45 SCN11A constr 888 E K 1 SCN11A:888:K:E ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38936310 rs138439635 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu850Pro p.Leu850Pro c.2549T>C missense_variant NA 53 0.000231051589896506 51 1 0 0 0 0 0 1 SCN11A constr 850 P L 1 SCN11A:850:L:P ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38938380 rs758506159 A G gnomAD Exomes PASS NA p.Cys787Arg p.Cys787Arg c.2359T>C missense_variant NA 72 0.000346557051954678 0 55 0 0 0 0 17 0 SCN11A constr 787 R C 1 SCN11A:787:C:R ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38938526 rs140995438 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro738Leu p.Pro738Leu c.2213C>T missense_variant NA 108 0.000470982259668219 105 2 0 0 0 0 0 1 SCN11A constr 738 L P 1 SCN11A:738:P:L ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38938538 rs200211620 T C gnomAD Exomes PASS NA p.Lys734Arg p.Lys734Arg c.2201A>G missense_variant NA 411 0.00197520184544406 0 2 0 2 0 1 7 399 SCN11A constr 734 R K 1 SCN11A:734:K:R ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38938644 rs145734191 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly699Arg p.Gly699Arg c.2095G>A missense_variant NA 36 0.00015705024735414 0 4 0 0 1 31 0 0 SCN11A constr 699 R G 1 SCN11A:699:G:R ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38941459 rs547815342 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu650Phe p.Leu650Phe c.1948C>T missense_variant NA 35 0.000152658437649932 0 0 0 35 0 0 0 0 SCN11A constr 650 F L 1 SCN11A:650:L:F ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38941544 rs370738551 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile621Met p.Ile621Met c.1863A>G missense_variant NA 24 0.000104760491326704 0 1 1 1 0 19 2 0 SCN11A constr 621 M I 1 SCN11A:621:I:M ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38945454 rs141228634 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala582Thr p.Ala582Thr c.1744G>A missense_variant NA 32 0.00013958438748626 0 4 0 0 1 27 0 0 SCN11A constr 582 T A 1 SCN11A:582:A:T ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38945468 rs374524879 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro577Leu p.Pro577Leu c.1730C>T missense_variant NA 45 0.000196300820101204 2 1 0 0 0 39 2 1 SCN11A constr 577 L P 1 SCN11A:577:P:L ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38949471 rs13059805 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly481Glu p.Gly481Glu c.1442G>A missense_variant NA 7011 0.031209102320985 90 2211 94 19 1120 2979 145 353 SCN11A constr 481 E G 1 SCN11A:481:G:E ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38950530 rs150269814 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys419Asn p.Lys419Asn c.1257G>T missense_variant NA 114 0.000497039562605185 0 4 5 0 4 99 2 0 SCN11A constr 419 N K 1 SCN11A:419:K:N ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38950678 rs138034948 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg370His p.Arg370His c.1109G>A missense_variant NA 94 0.000409979064898814 79 5 0 0 0 10 0 0 SCN11A constr 370 H R 1 SCN11A:370:R:H ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38951561 rs112707835 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln366Arg p.Gln366Arg c.1097A>G missense_variant NA 59 0.000257630671149731 0 5 0 1 0 19 0 34 SCN11A constr 366 R Q 1 SCN11A:366:Q:R ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38962696 rs371647806 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn255His p.Asn255His c.763A>C missense_variant NA 67 0.000292170697459423 0 1 0 60 0 1 1 4 SCN11A constr 255 H N 1 SCN11A:255:N:H ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38962699 rs574777861 C A gnomAD Exomes PASS NA p.Val254Phe p.Val254Phe c.760G>T missense_variant NA 408 0.00196104819948859 0 2 0 2 0 1 7 396 SCN11A constr 254 F V 1 SCN11A:254:V:F ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38966906 rs146942592 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg238Cys p.Arg238Cys c.712C>T missense_variant NA 48 0.000209520982653409 0 3 0 0 0 42 2 1 SCN11A constr 238 C R 1 SCN11A:238:R:C ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38968310 rs139915721 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile201Phe p.Ile201Phe c.601A>T missense_variant NA 154 0.000671955040099135 139 11 0 0 0 0 3 1 SCN11A constr 201 F I 1 SCN11A:201:I:F ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38988312 rs189732398 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile118Met p.Ile118Met c.354C>G missense_variant NA 30 0.000130900332486845 27 2 0 0 0 0 1 0 SCN11A constr 118 M I 1 SCN11A:118:I:M ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 3 38991759 rs150835546 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala32Val p.Ala32Val c.95C>T missense_variant NA 133 0.000579859264232711 0 11 7 0 8 99 7 1 SCN11A constr 32 V A 1 SCN11A:32:A:V ENST00000302328;ENST00000450244;NM_001287223.1;NM_014139.2;XM_005264842.1 2 167055358 rs200410805 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1920His p.Asp1920His c.5758G>C missense_variant segdup 83 0.000365294392070911 77 6 0 0 0 0 0 0 SCN9A constr 1931 H D 1 SCN9A:1931:D:H ENST00000409435;XM_005246757.1 2 167055370 rs111558968 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1916Phe p.Leu1916Phe c.5746C>T missense_variant segdup 218 0.00095773657850804 178 17 0 0 0 18 5 0 SCN9A constr 1927 F L 1 SCN9A:1927:L:F ENST00000409435;XM_005246757.1 2 167055393 rs3750904 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1908Gly p.Asp1908Gly c.5723A>G missense_variant segdup 14201 0.0622949237598919 115 10929 20 2238 16 345 234 304 SCN9A constr 1919 G D 1 SCN9A:1919:D:G ENST00000409435;XM_005246757.1 2 167055438 rs79805025 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1893His p.Arg1893His c.5678G>A missense_variant segdup 63 0.000276163172983351 0 0 0 61 0 0 1 1 SCN9A constr 1904 H R 1 SCN9A:1904:R:H ENST00000409435;XM_005246757.1 2 167060594 rs202084411 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Trp1538Arg p.Trp1538Arg c.4612T>C missense_variant segdup 499 0.00219996296655527 5 37 11 1 3 261 13 168 SCN9A constr 1549 R W 1 SCN9A:1549:W:R ENST00000409435;XM_005246757.1 2 167083160 rs149346064 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1428Ile p.Val1428Ile c.4282G>A missense_variant 298 0.00141621518867028 4 17 123 2 0 57 8 87 SCN9A constr 1439 I V 1 SCN9A:1439:V:I ENST00000409435;XM_005246757.1 2 167089942 rs180922748 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1267Val p.Leu1267Val c.3799C>G missense_variant 267 0.00135029888638272 6 28 0 0 6 223 4 0 SCN9A constr 1278 V L 1 SCN9A:1278:L:V ENST00000409435;XM_005246757.1 2 167094638 rs141268327 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1245Ser p.Asn1245Ser c.3734A>G missense_variant 975 0.00432280490183908 26 117 7 0 25 749 19 32 SCN9A constr 1256 S N 1 SCN9A:1256:N:S ENST00000409435;XM_005246757.1 2 167099130 rs73019664 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1159Thr p.Ile1159Thr c.3476T>C missense_variant 80 0.000511724896695536 50 6 0 0 21 3 0 0 SCN9A constr 1170 T I 1 SCN9A:1170:I:T ENST00000409435;XM_005246757.1 2 167099133 rs151241025 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1158Thr p.Asn1158Thr c.3473A>C missense_variant 101 0.000647577036020671 90 6 0 0 0 2 1 2 SCN9A constr 1169 T N 1 SCN9A:1169:N:T ENST00000409435;XM_005246757.1 2 167099158 rs6746030 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Trp1150Arg p.Trp1150Arg c.3448T>C missense_variant 134979 0.878906860446945 10289 19165 4616 9551 13028 55403 3782 19145 SCN9A constr 1161 R W 1 SCN9A:1161:W:R ENST00000409435;XM_005246757.1 2 167108344 rs184563685 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1124Ser p.Pro1124Ser c.3370C>T missense_variant 49 0.000216137057360128 35 9 3 0 0 1 1 0 SCN9A constr 1135 S P 1 SCN9A:1135:P:S ENST00000409435;XM_005246757.1 2 167108345 rs200160858 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1123Phe p.Leu1123Phe c.3369G>T missense_variant 100 0.000441084361795037 3 7 0 0 24 66 0 0 SCN9A constr 1134 F L 1 SCN9A:1134:L:F ENST00000409435;XM_005246757.1 2 167108385 rs74401238 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1110Gln p.Arg1110Gln c.3329G>A missense_variant 4715 0.0208233963997385 532 257 88 6 697 2190 96 849 SCN9A constr 1121 Q R 1 SCN9A:1121:R:Q ENST00000409435;XM_005246757.1 2 167108386 rs190664764 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1110Trp p.Arg1110Trp c.3328C>T missense_variant 719 0.00317590727587547 2 0 0 0 557 137 21 2 SCN9A constr 1121 W R 1 SCN9A:1121:R:W ENST00000409435;XM_005246757.1 2 167128911 rs200817435 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1106Leu p.Val1106Leu c.3316G>T missense_variant 20 0.000102292372057816 0 1 0 0 0 19 0 0 SCN9A constr 1117 L V 1 SCN9A:1117:V:L ENST00000409435;XM_005246757.1 2 167128917 rs201984007 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1104Gly p.Ser1104Gly c.3310A>G missense_variant 72 0.000350678953418146 3 1 0 1 5 58 2 2 SCN9A constr 1115 G S 1 SCN9A:1115:S:G ENST00000409435;XM_005246757.1 2 167128931 rs145258166 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1099Leu p.Ser1099Leu c.3296C>T missense_variant 56 0.000257926638294736 46 4 0 0 0 3 3 0 SCN9A constr 1110 L S 1 SCN9A:1110:S:L ENST00000409435;XM_005246757.1 2 167128958 rs200866100 A C gnomAD Exomes PASS NA p.Met1090Arg p.Met1090Arg c.3269T>G missense_variant 21 0.00010357276726706 0 21 0 0 0 0 0 0 SCN9A constr 1101 R M 1 SCN9A:1101:M:R ENST00000409435;XM_005246757.1 2 167129093 rs200560768 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1045Arg p.Lys1045Arg c.3134A>G missense_variant 30 0.000132116685456595 29 1 0 0 0 0 0 0 SCN9A constr 1056 R K 1 SCN9A:1056:K:R ENST00000409435;XM_005246757.1 2 167129209 rs147623238 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1006Asn p.Lys1006Asn c.3018G>C missense_variant 106 0.000488249762784313 97 8 0 0 0 0 1 0 SCN9A constr 1017 N K 1 SCN9A:1017:K:N ENST00000409435;XM_005246757.1 2 167129240 rs188145203 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg996His p.Arg996His c.2987G>A missense_variant 52 0.000249302432616429 41 8 0 0 0 3 0 0 SCN9A constr 1007 H R 1 SCN9A:1007:R:H ENST00000409435;XM_005246757.1 2 167129256 rs4369876 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val991Leu p.Val991Leu c.2971G>T missense_variant 6328 0.0333843313109997 53 4848 9 829 2 258 103 226 SCN9A constr 1002 L V 1 SCN9A:1002:V:L ENST00000409435;XM_005246757.1 2 167129258 rs199692186 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr990Cys p.Tyr990Cys c.2969A>G missense_variant 106 0.00056285377483725 3 0 23 0 3 72 4 1 SCN9A constr 1001 C Y 1 SCN9A:1001:Y:C ENST00000409435;XM_005246757.1 2 167133515 rs201890077 A G gnomAD Exomes PASS NA p.Val940Ala p.Val940Ala c.2819T>C missense_variant segdup 61 0.00029311421844217 0 0 0 1 0 0 0 60 SCN9A constr 951 A V 1 SCN9A:951:V:A ENST00000409435;XM_005246757.1 2 167133540 rs12478318 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met932Leu p.Met932Leu c.2794A>C missense_variant segdup 8578 0.0373984165184333 57 6857 14 867 3 297 145 338 SCN9A constr 943 L M 1 SCN9A:943:M:L ENST00000409435;XM_005246757.1 2 167134706 rs41268671 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val810Met p.Val810Met c.2428G>A missense_variant segdup 62 0.000273298715496037 1 0 14 0 0 18 2 27 SCN9A constr 821 M V 1 SCN9A:821:V:M ENST00000409435;XM_005246757.1 2 167134730 rs201890240 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser802Gly p.Ser802Gly c.2404A>G missense_variant segdup 662 0.00293369494890407 0 2 0 0 0 2 8 650 SCN9A constr 813 G S 1 SCN9A:813:S:G ENST00000409435;XM_005246757.1 2 167134745 rs147639592 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Trp797Arg p.Trp797Arg c.2389T>C missense_variant segdup 32 0.000141450218363775 31 0 0 1 0 0 0 0 SCN9A constr 808 R W 1 SCN9A:808:W:R ENST00000409435;XM_005246757.1 2 167134775 rs149707354 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Met787Val p.Met787Val c.2359A>G missense_variant segdup 388 0.0017273925276917 0 0 3 339 0 5 8 33 SCN9A constr 798 V M 1 SCN9A:798:M:V ENST00000409435;XM_005246757.1 2 167136962 rs182650126 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile739Val p.Ile739Val c.2215A>G missense_variant segdup 472 0.00241054921708221 10 61 3 0 56 306 18 18 SCN9A constr 750 V I 1 SCN9A:750:I:V ENST00000409435;XM_005246757.1 2 167137018 rs200945460 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile720Lys p.Ile720Lys c.2159T>A missense_variant 33 0.000167386937732059 0 9 0 0 0 19 5 0 SCN9A constr 731 K I 1 SCN9A:731:I:K ENST00000409435;XM_005246757.1 2 167137020 rs202055175 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Trp719Cys p.Trp719Cys c.2157G>C missense_variant 184 0.000932400932400932 166 13 0 0 0 3 2 0 SCN9A constr 730 C W 1 SCN9A:730:W:C ENST00000409435;XM_005246757.1 2 167137045 rs187526567 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu711Ser p.Leu711Ser c.2132T>C missense_variant 43 0.000213770817797663 0 0 0 42 0 1 0 0 SCN9A constr 722 S L 1 SCN9A:722:L:S ENST00000409435;XM_005246757.1 2 167138287 rs200374987 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg658His p.Arg658His c.1973G>A missense_variant 25 0.000110303201440119 2 13 0 0 0 7 3 0 SCN9A constr 669 H R 1 SCN9A:669:R:H ENST00000409435;XM_005246757.1 2 167138288 rs200174262 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg658Cys p.Arg658Cys c.1972C>T missense_variant 39 0.000172415317553648 32 1 0 0 0 4 0 2 SCN9A constr 669 C R 1 SCN9A:669:R:C ENST00000409435;XM_005246757.1 2 167138296 rs121908919 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys655Arg p.Lys655Arg c.1964A>G missense_variant 428 0.00189179632248939 4 96 2 0 23 293 8 2 SCN9A constr 666 R K 1 SCN9A:666:K:R ENST00000409435;XM_005246757.1 2 167141099 rs200671761 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro613Leu p.Pro613Leu c.1838C>T missense_variant 190 0.000835554148306464 1 1 0 0 0 2 3 183 SCN9A constr 613 L P 1 SCN9A:613:P:L ENST00000409435;XM_005246757.1 2 167141109 rs41268673 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro610Thr p.Pro610Thr c.1828C>A missense_variant 5198 0.0228573941339431 78 397 460 2 495 3179 162 425 SCN9A constr 610 T P 1 SCN9A:610:P:T ENST00000409435;XM_005246757.1 2 167141144 rs201318927 C T gnomAD Exomes PASS NA p.Arg598His p.Arg598His c.1793G>A missense_variant 22 0.000106751550323651 0 1 10 0 0 0 1 10 SCN9A constr 598 H R 1 SCN9A:598:R:H ENST00000409435;XM_005246757.1 2 167141193 rs201391809 C T gnomAD Exomes PASS NA p.Glu582Lys p.Glu582Lys c.1744G>A missense_variant 23 0.000111604976611479 0 1 0 0 5 17 0 0 SCN9A constr 582 K E 1 SCN9A:582:E:K ENST00000409435;XM_005246757.1 2 167141318 rs199748300 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg540His p.Arg540His c.1619G>A missense_variant 44 0.000196539124686207 0 39 0 0 0 2 0 3 SCN9A constr 540 H R 1 SCN9A:540:R:H ENST00000409435;XM_005246757.1 2 167141319 rs200568743 G A gnomAD Exomes PASS NA p.Arg540Cys p.Arg540Cys c.1618C>T missense_variant 34 0.000167927771302132 0 3 0 0 0 0 0 31 SCN9A constr 540 C R 1 SCN9A:540:R:C ENST00000409435;XM_005246757.1 2 167142893 rs187453572 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu519Lys p.Glu519Lys c.1555G>A missense_variant 104 0.00045793594180691 4 4 0 0 1 89 2 4 SCN9A constr 519 K E 1 SCN9A:519:E:K ENST00000409435;XM_005246757.1 2 167142979 rs58022607 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser490Asn p.Ser490Asn c.1469G>A missense_variant 4023 0.0176996990655192 2539 262 218 0 2 402 77 523 SCN9A constr 490 N S 1 SCN9A:490:S:N ENST00000409435;XM_005246757.1 2 167143124 rs770771659 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala442Thr p.Ala442Thr c.1324G>A missense_variant 17 0.000105789814307761 0 0 0 17 0 0 0 0 SCN9A constr 442 T A 1 SCN9A:442:A:T ENST00000409435;XM_005246757.1 2 167144984 rs200415928 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Met426Lys p.Met426Lys c.1277T>A missense_variant 42 0.000184904730039094 33 9 0 0 0 0 0 0 SCN9A constr 426 K M 1 SCN9A:426:M:K ENST00000409435;XM_005246757.1 2 167145126 rs544004654 T C gnomAD Exomes PASS NA p.Met379Val p.Met379Val c.1135A>G missense_variant 24 0.00011756061719324 1 0 0 0 0 1 0 22 SCN9A constr 379 V M 1 SCN9A:379:M:V ENST00000409435;XM_005246757.1 2 167145152 rs200391162 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr370Met p.Thr370Met c.1109C>T missense_variant 92 0.00046135176065873 42 2 1 15 0 4 1 27 SCN9A constr 370 M T 1 SCN9A:370:T:M ENST00000409435;XM_005246757.1 2 167149749 rs200457046 A G gnomAD Exomes PASS NA p.Tyr367His p.Tyr367His c.1099T>C missense_variant 24 0.000142494122117463 0 3 0 0 0 18 3 0 SCN9A constr 367 H Y 1 SCN9A:367:Y:H ENST00000409435;XM_005246757.1 2 167160752 rs71428908 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile228Met p.Ile228Met c.684C>G missense_variant segdup 194 0.000851781276618165 3 3 0 0 18 166 4 0 SCN9A constr 228 M I 1 SCN9A:228:I:M ENST00000409435;XM_005246757.1 2 167160837 rs200764978 T C gnomAD Exomes PASS NA p.Tyr200Cys p.Tyr200Cys c.599A>G missense_variant segdup 24 0.000116321901475349 0 0 0 0 0 0 0 24 SCN9A constr 200 C Y 1 SCN9A:200:Y:C ENST00000409435;XM_005246757.1 2 167162344 rs73969684 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg185His p.Arg185His c.554G>A missense_variant segdup 654 0.00287834376402862 259 28 0 70 53 217 8 19 SCN9A constr 185 H R 1 SCN9A:185:R:H ENST00000409435;XM_005246757.1 2 167163482 rs200486515 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys121Gln p.Lys121Gln c.361A>C missense_variant 30 0.000133024715992231 2 0 0 0 0 28 0 0 SCN9A constr 121 Q K 1 SCN9A:121:K:Q ENST00000409435;XM_005246757.1 2 167168114 rs199836776 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser51Arg p.Ser51Arg c.153T>A missense_variant 24 0.000105600337921081 0 0 22 0 0 2 0 0 SCN9A constr 51 R S 1 SCN9A:51:S:R ENST00000409435;XM_005246757.1 2 167168238 rs267607030 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln10Arg p.Gln10Arg c.29A>G missense_variant 25 0.000110372352167272 0 0 0 21 0 0 3 1 SCN9A constr 10 R Q 1 SCN9A:10:Q:R ENST00000409435;XM_005246757.1 3 38591847 rs45489199 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2006Ala p.Pro2006Ala c.6016C>G missense_variant 204 0.00113843097425137 4 3 1 0 25 166 3 2 SCN5A constrhet 2006 A P 1 SCN5A:2006:P:A ENST00000333535;NM_198056.2 3 38591853 rs41311117 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe2004Leu p.Phe2004Leu c.6010T>C missense_variant 350 0.00195046922716836 6 24 10 0 11 266 17 16 SCN5A constrhet 2004 L F 1 SCN5A:2004:F:L ENST00000333535;NM_198056.2 3 38591900 rs145009013 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1988Arg p.Leu1988Arg c.5963T>G missense_variant 54 0.000262462088809394 0 0 0 51 0 0 3 0 SCN5A constrhet 1988 R L 1 SCN5A:1988:L:R ENST00000333535;NM_198056.2 3 38591978 rs199473638 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1962Leu p.Pro1962Leu c.5885C>T missense_variant 31 0.00013867640085532 0 0 19 2 0 8 2 0 SCN5A constrhet 1962 L P 1 SCN5A:1962:P:L ENST00000333535;NM_198056.2 3 38592012 rs41315493 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1951Leu p.Val1951Leu c.5851G>T missense_variant 1519 0.00673220110622607 68 1279 0 47 12 29 29 55 SCN5A constrhet 1951 L V 1 SCN5A:1951:V:L ENST00000333535;NM_198056.2 3 38592012 rs41315493 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1951Met p.Val1951Met c.5851G>A missense_variant 25 0.000110799886540916 0 0 0 11 0 4 0 10 SCN5A constrhet 1951 M V 1 SCN5A:1951:V:M ENST00000333535;NM_198056.2 3 38592097 rs760280154 C G gnomAD Genomes NA PASS p.Lys1922Asn p.Lys1922Asn c.5766G>C missense_variant segdup 8 0.000376399736520184 0 0 0 0 0 8 0 0 SCN5A constrhet 1922 N K 1 SCN5A:1922:K:N ENST00000333535;NM_198056.2 3 38592152 rs150264233 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1904Leu p.Ser1904Leu c.5711C>T missense_variant segdup 39 0.000171559786386071 33 2 1 0 0 3 0 0 SCN5A constrhet 1904 L S 1 SCN5A:1904:S:L ENST00000333535;NM_198056.2 3 38592356 rs45563942 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1836Thr p.Ile1836Thr c.5507T>C missense_variant segdup 67 0.000294609093307537 62 1 0 0 0 0 1 3 SCN5A constrhet 1836 T I 1 SCN5A:1836:I:T ENST00000333535;NM_198056.2 3 38592369 rs199473320 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1832Glu p.Gln1832Glu c.5494C>G missense_variant segdup 23 0.000101106900765775 18 0 0 0 0 4 1 0 SCN5A constrhet 1832 E Q 1 SCN5A:1832:Q:E ENST00000333535;NM_198056.2 3 38592408 rs137854619 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1819Asn p.Asp1819Asn c.5455G>A missense_variant segdup 66 0.000289704939908172 0 1 0 0 0 7 1 57 SCN5A constrhet 1819 N D 1 SCN5A:1819:D:N ENST00000333535;NM_198056.2 3 38592503 rs199473316 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1787Asn p.Ser1787Asn c.5360G>A missense_variant segdup 152 0.000664428591411386 0 5 128 0 0 16 3 0 SCN5A constrhet 1787 N S 1 SCN5A:1787:S:N ENST00000333535;NM_198056.2 3 38595797 rs199473278 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1596Ile p.Phe1596Ile c.4786T>A missense_variant segdup 23 0.000101552427544551 0 1 0 0 1 19 2 0 SCN5A constrhet 1596 I F 1 SCN5A:1596:F:I ENST00000333535;NM_198056.2 3 38595989 rs199473618 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1532Ile p.Val1532Ile c.4594G>A missense_variant segdup 71 0.000312461492421709 13 2 0 2 0 1 0 53 SCN5A constrhet 1532 I V 1 SCN5A:1532:V:I ENST00000333535;NM_198056.2 3 38603947 rs41313031 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu1308Phe p.Leu1308Phe c.3922C>T missense_variant 99 0.000438802556578936 96 3 0 0 0 0 0 0 SCN5A constrhet 1308 F L 1 SCN5A:1308:L:F ENST00000333535;NM_198056.2 3 38603958 rs199473603 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1304Met p.Thr1304Met c.3911C>T missense_variant 43 0.000190102301564144 2 3 0 0 0 37 0 1 SCN5A constrhet 1304 M T 1 SCN5A:1304:T:M ENST00000333535;NM_198056.2 3 38603991 rs41311127 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe1293Ser p.Phe1293Ser c.3878T>C missense_variant 101 0.000444957442684195 1 28 48 0 0 20 4 0 SCN5A constrhet 1293 S F 1 SCN5A:1293:F:S ENST00000333535;NM_198056.2 3 38607989 rs199473600 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1251Met p.Val1251Met c.3751G>A missense_variant 45 0.000196210093047186 30 2 5 4 0 1 0 3 SCN5A constrhet 1251 M V 1 SCN5A:1251:V:M ENST00000333535;NM_198056.2 3 38608013 rs199473599 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1243Asn p.Asp1243Asn c.3727G>A missense_variant 29 0.000126563495596463 0 3 19 1 1 3 0 2 SCN5A constrhet 1243 N D 1 SCN5A:1243:D:N ENST00000333535;NM_198056.2 3 38616876 rs41261344 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1193Gln p.Arg1193Gln c.3578G>A missense_variant 1048 0.00474663478087577 2 10 0 861 15 118 22 20 SCN5A constrhet 1193 Q R 1 SCN5A:1193:R:Q ENST00000333535;NM_198056.2 3 38616915 rs41310765 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1180Val p.Ala1180Val c.3539C>T missense_variant 26 0.00012092123376865 0 0 0 20 0 5 0 1 SCN5A constrhet 1180 V A 1 SCN5A:1180:A:V ENST00000333535;NM_198056.2 3 38620896 rs199473193 C T gnomAD Exomes PASS NA p.Glu1107Lys p.Glu1107Lys c.3319G>A missense_variant 31 0.000153368162748357 0 0 0 0 0 0 0 31 SCN5A constrhet 1107 K E 1 SCN5A:1107:E:K ENST00000333535;NM_198056.2 3 38620907 rs7626962 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1103Tyr p.Ser1103Tyr c.3308C>A missense_variant 1648 0.0073394495412844 1472 125 0 0 0 31 19 1 SCN5A constrhet 1103 Y S 1 SCN5A:1103:S:Y ENST00000333535;NM_198056.2 3 38620923 rs199473191 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1098Leu p.Val1098Leu c.3292G>T missense_variant 24 0.000106655290102389 0 0 0 24 0 0 0 0 SCN5A constrhet 1098 L V 1 SCN5A:1098:V:L ENST00000333535;NM_198056.2 3 38620946 rs1805125 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1090Leu p.Pro1090Leu c.3269C>T missense_variant 340 0.00151462504120671 3 2 2 294 0 4 7 28 SCN5A constrhet 1090 L P 1 SCN5A:1090:P:L ENST00000333535;NM_198056.2 3 38620953 rs369704754 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1088Thr p.Ala1088Thr c.3262G>A missense_variant 25 0.000111454887519728 21 1 0 0 0 0 2 1 SCN5A constrhet 1088 T A 1 SCN5A:1088:A:T ENST00000333535;NM_198056.2 3 38622444 rs199473187 G A gnomAD Exomes PASS NA p.Thr1069Met p.Thr1069Met c.3206C>T missense_variant 37 0.000181001673042491 0 32 2 1 0 0 0 2 SCN5A constrhet 1069 M T 1 SCN5A:1069:T:M ENST00000333535;NM_198056.2 3 38622493 rs137854617 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1053Lys p.Glu1053Lys c.3157G>A missense_variant 23 0.000101301057935396 1 7 0 0 0 13 2 0 SCN5A constrhet 1053 K E 1 SCN5A:1053:E:K ENST00000333535;NM_198056.2 3 38622582 rs199473592 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1023His p.Arg1023His c.3068G>A missense_variant 71 0.00031421212416247 0 5 0 0 0 6 3 57 SCN5A constrhet 1023 H R 1 SCN5A:1023:R:H ENST00000333535;NM_198056.2 3 38622640 rs199473183 A G gnomAD Exomes PASS NA p.Cys1004Arg p.Cys1004Arg c.3010T>C missense_variant 70 0.000349496724716408 0 0 0 0 0 0 1 69 SCN5A constrhet 1004 R C 1 SCN5A:1004:C:R ENST00000333535;NM_198056.2 3 38627199 rs199473177 C T gnomAD Exomes PASS NA p.Val924Ile p.Val924Ile c.2770G>A missense_variant 31 0.000155492912532729 0 0 0 0 0 2 1 28 SCN5A constrhet 924 I V 1 SCN5A:924:V:I ENST00000333535;NM_198056.2 3 38627472 rs45475899 C T gnomAD Exomes PASS NA p.Gly833Arg p.Gly833Arg c.2497G>A missense_variant 35 0.000168450639149854 0 0 0 2 0 2 0 31 SCN5A constrhet 833 R G 1 SCN5A:833:G:R ENST00000333535;NM_198056.2 3 38639408 rs45553235 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln692Lys p.Gln692Lys c.2074C>A missense_variant 71 0.000312469743246693 0 15 17 0 0 34 2 3 SCN5A constrhet 692 K Q 1 SCN5A:692:Q:K ENST00000333535;NM_198056.2 3 38639416 rs199473145 C T gnomAD Exomes PASS NA p.Arg689His p.Arg689His c.2066G>A missense_variant 23 0.000111714477224818 4 2 0 2 0 4 0 11 SCN5A constrhet 689 H R 1 SCN5A:689:R:H ENST00000333535;NM_198056.2 3 38640418 rs199473140 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala672Thr p.Ala672Thr c.2014G>A missense_variant 196 0.000863451338349574 0 11 0 0 0 3 2 180 SCN5A constrhet 672 T A 1 SCN5A:672:A:T ENST00000333535;NM_198056.2 3 38640465 rs41313681 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro656Leu p.Pro656Leu c.1967C>T missense_variant 101 0.000445369480284684 90 9 0 0 0 1 1 0 SCN5A constrhet 656 L P 1 SCN5A:656:P:L ENST00000333535;NM_198056.2 3 38645241 rs45488304 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu618Phe p.Leu618Phe c.1852C>T missense_variant 103 0.000582105072791392 97 4 0 0 0 1 1 0 SCN5A constrhet 618 F L 1 SCN5A:618:L:F ENST00000333535;NM_198056.2 3 38645249 rs12720452 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly615Glu p.Gly615Glu c.1844G>A missense_variant 56 0.000310689953618428 4 3 0 0 0 48 0 1 SCN5A constrhet 615 E G 1 SCN5A:615:G:E ENST00000333535;NM_198056.2 3 38645378 rs36210423 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala572Val p.Ala572Val c.1715C>T missense_variant 57 0.000250844951415294 37 16 0 0 0 2 2 0 SCN5A constrhet 572 V A 1 SCN5A:572:A:V ENST00000333535;NM_198056.2 3 38645378 rs36210423 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala572Asp p.Ala572Asp c.1715C>A missense_variant 1037 0.00456361780030982 4 12 0 0 692 303 26 0 SCN5A constrhet 572 D A 1 SCN5A:572:A:D ENST00000333535;NM_198056.2 3 38645379 rs184442491 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala572Ser p.Ala572Ser c.1714G>T missense_variant 57 0.000250855991057204 37 16 0 0 0 2 2 0 SCN5A constrhet 572 S A 1 SCN5A:572:A:S ENST00000333535;NM_198056.2 3 38645420 rs1805124 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.His558Arg p.His558Arg c.1673A>G missense_variant 51182 0.225372082782915 5532 6625 1313 1393 3533 23996 1233 7557 SCN5A constrhet 558 R H 1 SCN5A:558:H:R ENST00000333535;NM_198056.2 3 38645522 rs41313691 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser524Tyr p.Ser524Tyr c.1571C>A missense_variant 872 0.00395411055185236 666 69 79 0 0 41 13 4 SCN5A constrhet 524 Y S 1 SCN5A:524:S:Y ENST00000333535;NM_198056.2 3 38646297 rs144511230 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg481Trp p.Arg481Trp c.1441C>T missense_variant 262 0.00115303706442044 227 29 0 1 0 3 2 0 SCN5A constrhet 481 W R 1 SCN5A:481:R:W ENST00000333535;NM_198056.2 3 38646357 rs41313697 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu461Val p.Leu461Val c.1381T>G missense_variant 263 0.0011610043791496 200 35 5 0 0 16 7 0 SCN5A constrhet 461 V L 1 SCN5A:461:L:V ENST00000333535;NM_198056.2 3 38646366 rs752130196 G A gnomAD Exomes PASS NA p.Arg458Cys p.Arg458Cys c.1372C>T missense_variant 35 0.000171010329023873 1 0 0 0 0 1 0 33 SCN5A constrhet 458 C R 1 SCN5A:458:R:C ENST00000333535;NM_198056.2 3 38647444 rs199473339 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu446Lys p.Glu446Lys c.1336G>A missense_variant 144 0.000652658677641001 0 1 23 1 0 10 2 107 SCN5A constrhet 446 K E 1 SCN5A:446:E:K ENST00000333535;NM_198056.2 3 38651264 rs199473087 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu299Met p.Leu299Met c.895T>A missense_variant 47 0.000206827963140617 42 3 0 0 0 2 0 0 SCN5A constrhet 299 M L 1 SCN5A:299:L:M ENST00000333535;NM_198056.2 3 38651303 rs61746118 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala286Ser p.Ala286Ser c.856G>T missense_variant 68 0.000299095675428411 62 6 0 0 0 0 0 0 SCN5A constrhet 286 S A 1 SCN5A:286:A:S ENST00000333535;NM_198056.2 3 38655243 rs45471994 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val232Ile p.Val232Ile c.694G>A missense_variant 28 0.000131420847101232 25 3 0 0 0 0 0 0 SCN5A constrhet 232 I V 1 SCN5A:232:V:I ENST00000333535;NM_198056.2 3 38655278 rs45620037 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr220Ile p.Thr220Ile c.659C>T missense_variant 137 0.000614179017492894 2 5 0 0 59 70 1 0 SCN5A constrhet 220 I T 1 SCN5A:220:T:I ENST00000333535;NM_198056.2 3 38655290 rs41276525 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser216Leu p.Ser216Leu c.647C>T missense_variant 145 0.000651322409084376 1 16 8 0 0 99 4 17 SCN5A constrhet 216 L S 1 SCN5A:216:S:L ENST00000333535;NM_198056.2 3 38662377 rs199473068 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg190Gly p.Arg190Gly c.568C>G missense_variant 83 0.000373537353735374 0 0 0 0 75 5 3 0 SCN5A constrhet 190 G R 1 SCN5A:190:R:G ENST00000333535;NM_198056.2 3 38662392 rs192113333 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala185Thr p.Ala185Thr c.553G>A missense_variant 83 0.000368250587869914 0 0 0 0 74 8 1 0 SCN5A constrhet 185 T A 1 SCN5A:185:A:T ENST00000333535;NM_198056.2 3 38662449 rs201232332 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala166Thr p.Ala166Thr c.496G>A missense_variant 45 0.000198267581928571 0 2 0 0 19 19 4 1 SCN5A constrhet 166 T A 1 SCN5A:166:A:T ENST00000333535;NM_198056.2 3 38663937 rs199473061 C T gnomAD Exomes PASS NA p.Val146Met p.Val146Met c.436G>A missense_variant 26 0.000127833226805644 1 21 0 1 0 0 0 3 SCN5A constrhet 146 M V 1 SCN5A:146:V:M ENST00000333535;NM_198056.2 3 38671821 rs199473059 C G gnomAD Exomes PASS NA p.Val125Leu p.Val125Leu c.373G>C missense_variant 54 0.000262023989751951 0 0 0 0 0 2 1 51 SCN5A constrhet 125 L V 1 SCN5A:125:V:L ENST00000333535;NM_198056.2 3 38674699 rs6791924 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg34Cys p.Arg34Cys c.100C>T missense_variant 2312 0.0101965211868892 1887 218 14 0 1 139 40 13 SCN5A constrhet 34 C R 1 SCN5A:34:R:C ENST00000333535;NM_198056.2 3 38674719 rs199473045 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg27His p.Arg27His c.80G>A missense_variant 55 0.000242446683770178 4 48 0 0 0 2 1 0 SCN5A constrhet 27 H R 1 SCN5A:27:R:H ENST00000333535;NM_198056.2 3 38674747 rs199473044 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg18Trp p.Arg18Trp c.52C>T missense_variant 68 0.000300167740796327 0 0 0 0 0 13 2 53 SCN5A constrhet 18 W R 1 SCN5A:18:R:W ENST00000333535;NM_198056.2 12 52056609 rs758891499 C T gnomAD Exomes PASS NA p.Ala3Val p.Ala3Val c.8C>T missense_variant NA 5 2.43833451998947e-05 0 0 0 0 0 3 2 0 SCN8A constrhet 3 V A 1 SCN8A:3:A:V ENST00000354534;NM_014191.3 12 52056612 rs751889285 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg4Gln p.Arg4Gln c.11G>A missense_variant NA 3 1.32412916438622e-05 0 0 0 1 0 1 1 0 SCN8A constrhet 4 Q R 1 SCN8A:4:R:Q ENST00000354534;NM_014191.3 12 52056623 rs780814153 C G gnomAD Exomes PASS NA p.Pro8Ala p.Pro8Ala c.22C>G missense_variant NA 2 9.72620726547683e-06 0 0 0 0 1 1 0 0 SCN8A constrhet 8 A P 1 SCN8A:8:P:A ENST00000354534;NM_014191.3 12 52056633 rs745556675 C T gnomAD Exomes PASS NA p.Pro11Leu p.Pro11Leu c.32C>T missense_variant NA 2 9.71940089612876e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 11 L P 1 SCN8A:11:P:L ENST00000354534;NM_014191.3 12 52056671 rs1170755479 A G gnomAD Exomes PASS NA p.Asn24Asp p.Asn24Asp c.70A>G missense_variant NA 5 2.42694883991845e-05 0 5 0 0 0 0 0 0 SCN8A constrhet 24 D N 1 SCN8A:24:N:D ENST00000354534;NM_014191.3 12 52056672 rs769269501 A G gnomAD Exomes PASS NA p.Asn24Ser p.Asn24Ser c.71A>G missense_variant NA 2 9.70779535967382e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 24 S N 1 SCN8A:24:N:S ENST00000354534;NM_014191.3 12 52056675 rs779565282 T C gnomAD Exomes PASS NA p.Ile25Thr p.Ile25Thr c.74T>C missense_variant NA 2 9.70760688075176e-06 0 0 0 0 0 0 0 2 SCN8A constrhet 25 T I 1 SCN8A:25:I:T ENST00000354534;NM_014191.3 12 52056683 rs768570935 C T gnomAD Exomes PASS NA p.Arg28Cys p.Arg28Cys c.82C>T missense_variant NA 4 1.94146483521817e-05 0 2 0 0 0 1 0 1 SCN8A constrhet 28 C R 1 SCN8A:28:R:C ENST00000354534;NM_014191.3 12 52056684 rs531796685 G A gnomAD Exomes PASS NA p.Arg28His p.Arg28His c.83G>A missense_variant NA 2 9.70722994486293e-06 0 0 0 0 0 1 0 1 SCN8A constrhet 28 H R 1 SCN8A:28:R:H ENST00000354534;NM_014191.3 12 52056696 rs375419028 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser32Asn p.Ser32Asn c.95G>A missense_variant NA 24 0.000105583613423197 0 3 0 0 0 16 1 4 SCN8A constrhet 32 N S 1 SCN8A:32:S:N ENST00000354534;NM_014191.3 12 52056734 rs373541157 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg45Trp p.Arg45Trp c.133C>T missense_variant NA 3 1.31985323232057e-05 1 0 0 0 0 2 0 0 SCN8A constrhet 45 W R 1 SCN8A:45:R:W ENST00000354534;NM_014191.3 12 52056735 rs775601133 G A gnomAD Exomes PASS NA p.Arg45Gln p.Arg45Gln c.134G>A missense_variant NA 2 9.7067588161637e-06 0 0 0 1 0 1 0 0 SCN8A constrhet 45 Q R 1 SCN8A:45:R:Q ENST00000354534;NM_014191.3 12 52056761 rs755721954 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys54Gln p.Lys54Gln c.160A>C missense_variant NA 3 1.3197603315238e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 54 Q K 1 SCN8A:54:K:Q ENST00000354534;NM_014191.3 12 52056872 rs762256592 C A gnomAD Exomes PASS NA p.Gln91Lys p.Gln91Lys c.271C>A missense_variant NA 2 9.74288525804032e-06 0 0 0 0 0 0 0 2 SCN8A constrhet 91 K Q 1 SCN8A:91:Q:K ENST00000354534;NM_014191.3 12 52077964 rs768941210 G A gnomAD Exomes PASS NA p.Val95Ile p.Val95Ile c.283G>A missense_variant NA 3 1.45793847499636e-05 0 1 0 2 0 0 0 0 SCN8A constrhet 95 I V 1 SCN8A:95:V:I ENST00000354534;NM_014191.3 12 52077977 rs370578497 G C gnomAD Exomes PASS NA p.Arg99Thr p.Arg99Thr c.296G>C missense_variant NA 3 1.45713120009326e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 99 T R 1 SCN8A:99:R:T ENST00000354534;NM_014191.3 12 52078021 rs527246057 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile114Val p.Ile114Val c.340A>G missense_variant NA 6 2.64031050051486e-05 0 0 0 0 0 6 0 0 SCN8A constrhet 114 V I 1 SCN8A:114:I:V ENST00000354534;NM_014191.3 12 52078053 rs574226931 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile124Met p.Ile124Met c.372A>G missense_variant NA 2 8.80677064527209e-06 1 0 0 0 0 1 0 0 SCN8A constrhet 124 M I 1 SCN8A:124:I:M ENST00000354534;NM_014191.3 12 52080213 rs796053232 A C gnomAD Exomes PASS NA p.Asn153His p.Asn153His c.457A>C missense_variant NA 2 9.70449803483915e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 153 H N 1 SCN8A:153:N:H ENST00000354534;NM_014191.3 12 52080880 rs775272996 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr164Met p.Thr164Met c.491C>T missense_variant NA 4 1.76192825428149e-05 0 0 0 0 2 2 0 0 SCN8A constrhet 164 M T 1 SCN8A:164:T:M ENST00000354534;NM_014191.3 12 52080897 rs763847342 A T gnomAD Exomes PASS NA p.Thr170Ser p.Thr170Ser c.508A>T missense_variant NA 2 9.71807854151077e-06 0 1 0 0 0 1 0 0 SCN8A constrhet 170 S T 1 SCN8A:170:T:S ENST00000354534;NM_014191.3 12 52080902 rs761410658 T G gnomAD Exomes PASS NA p.Phe171Leu p.Phe171Leu c.513T>G missense_variant NA 2 9.71751192824589e-06 0 2 0 0 0 0 0 0 SCN8A constrhet 171 L F 1 SCN8A:171:F:L ENST00000354534;NM_014191.3 12 52082546 rs767123396 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile207Val p.Ile207Val c.619A>G missense_variant NA 6 2.63282607550945e-05 0 0 0 0 0 6 0 0 SCN8A constrhet 207 V I 1 SCN8A:207:I:V ENST00000354534;NM_014191.3 12 52082571 rs1435940285 A G gnomAD Exomes PASS NA p.Asn215Ser p.Asn215Ser c.644A>G missense_variant NA 2 9.67305088024763e-06 0 2 0 0 0 0 0 0 SCN8A constrhet 215 S N 1 SCN8A:215:N:S ENST00000354534;NM_014191.3 12 52082585 rs760547585 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg220Cys p.Arg220Cys c.658C>T missense_variant NA 2 8.77169899037745e-06 0 0 0 1 0 1 0 0 SCN8A constrhet 220 C R 1 SCN8A:220:R:C ENST00000354534;NM_014191.3 12 52093522 rs760924400 A G gnomAD Exomes PASS NA p.Tyr292Cys p.Tyr292Cys c.875A>G missense_variant NA 2 9.71307574256464e-06 0 0 0 1 0 0 1 0 SCN8A constrhet 292 C Y 1 SCN8A:292:Y:C ENST00000354534;NM_014191.3 12 52093549 rs368726668 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp301Gly p.Asp301Gly c.902A>G missense_variant NA 5 2.20592776910113e-05 5 0 0 0 0 0 0 0 SCN8A constrhet 301 G D 1 SCN8A:301:D:G ENST00000354534;NM_014191.3 12 52094954 rs1380654654 C A gnomAD Exomes PASS NA p.Leu319Met p.Leu319Met c.955C>A missense_variant NA 2 9.73766724443492e-06 0 2 0 0 0 0 0 0 SCN8A constrhet 319 M L 1 SCN8A:319:L:M ENST00000354534;NM_014191.3 12 52096584 rs770066284 G A gnomAD Exomes PASS NA p.Met340Ile p.Met340Ile c.1020G>A missense_variant NA 3 1.49779823659221e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 340 I M 1 SCN8A:340:M:I ENST00000354534;NM_014191.3 12 52100213 rs755154133 C T gnomAD Exomes PASS NA p.Ala450Val p.Ala450Val c.1349C>T missense_variant NA 12 7.03713260303535e-05 0 0 0 1 11 0 0 0 SCN8A constrhet 450 V A 1 SCN8A:450:A:V ENST00000354534;NM_014191.3 12 52100275 rs748156622 G A gnomAD Exomes PASS NA p.Gly471Arg p.Gly471Arg c.1411G>A missense_variant NA 3 1.54187738990995e-05 0 2 0 0 0 0 0 1 SCN8A constrhet 471 R G 1 SCN8A:471:G:R ENST00000354534;NM_014191.3 12 52100287 rs771577480 C T gnomAD Exomes PASS NA p.Arg475Trp p.Arg475Trp c.1423C>T missense_variant NA 6 3.11756331251494e-05 1 2 0 1 0 1 0 1 SCN8A constrhet 475 W R 1 SCN8A:475:R:W ENST00000354534;NM_014191.3 12 52100288 rs201018451 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg475Gln p.Arg475Gln c.1424G>A missense_variant NA 16 7.47824298681025e-05 14 1 0 0 0 0 0 1 SCN8A constrhet 475 Q R 1 SCN8A:475:R:Q ENST00000354534;NM_014191.3 12 52100326 rs200027738 G A gnomAD Exomes PASS NA p.Ala488Thr p.Ala488Thr c.1462G>A missense_variant NA 2 1.02414944388685e-05 0 0 0 0 0 2 0 0 SCN8A constrhet 488 T A 1 SCN8A:488:A:T ENST00000354534;NM_014191.3 12 52100338 rs576362165 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg492Cys p.Arg492Cys c.1474C>T missense_variant NA 11 5.04240201696081e-05 1 2 0 0 0 6 1 1 SCN8A constrhet 492 C R 1 SCN8A:492:R:C ENST00000354534;NM_014191.3 12 52100339 rs750170064 G A gnomAD Exomes PASS NA p.Arg492His p.Arg492His c.1475G>A missense_variant NA 5 2.53652597402597e-05 0 2 1 0 0 2 0 0 SCN8A constrhet 492 H R 1 SCN8A:492:R:H ENST00000354534;NM_014191.3 12 52100351 rs1490018848 A G gnomAD Exomes PASS NA p.Lys496Arg p.Lys496Arg c.1487A>G missense_variant NA 2 1.00808484042017e-05 0 1 0 0 0 1 0 0 SCN8A constrhet 496 R K 1 SCN8A:496:K:R ENST00000354534;NM_014191.3 12 52100368 rs201487381 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu502Lys p.Glu502Lys c.1504G>A missense_variant NA 2 9.13700945680479e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 502 K E 1 SCN8A:502:E:K ENST00000354534;NM_014191.3 12 52100383 rs777851383 G C gnomAD Exomes PASS NA p.Glu507Gln p.Glu507Gln c.1519G>C missense_variant NA 2 1.00284808857154e-05 0 1 0 0 0 1 0 0 SCN8A constrhet 507 Q E 1 SCN8A:507:E:Q ENST00000354534;NM_014191.3 12 52100393 rs746209495 G A gnomAD Exomes PASS NA p.Gly510Glu p.Gly510Glu c.1529G>A missense_variant NA 3 1.5053137575642e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 510 E G 1 SCN8A:510:G:E ENST00000354534;NM_014191.3 12 52100401 rs1246972517 G A gnomAD Exomes PASS NA p.Glu513Lys p.Glu513Lys c.1537G>A missense_variant NA 2 1.00120144173008e-05 0 0 0 0 0 0 0 2 SCN8A constrhet 513 K E 1 SCN8A:513:E:K ENST00000354534;NM_014191.3 12 52100441 rs773875275 G A gnomAD Exomes PASS NA p.Arg526Lys p.Arg526Lys c.1577G>A missense_variant NA 2 1.01775991043713e-05 0 0 0 2 0 0 0 0 SCN8A constrhet 526 K R 1 SCN8A:526:R:K ENST00000354534;NM_014191.3 12 52100452 rs761336234 C T gnomAD Exomes PASS NA p.Arg530Trp p.Arg530Trp c.1588C>T missense_variant NA 2 1.05185652676975e-05 0 0 0 2 0 0 0 0 SCN8A constrhet 530 W R 1 SCN8A:530:R:W ENST00000354534;NM_014191.3 12 52100453 rs771976211 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg530Gln p.Arg530Gln c.1589G>A missense_variant NA 2 9.45993245608226e-06 0 0 0 1 0 1 0 0 SCN8A constrhet 530 Q R 1 SCN8A:530:R:Q ENST00000354534;NM_014191.3 12 52115384 rs761977560 A G gnomAD Exomes PASS NA p.Ser564Gly p.Ser564Gly c.1690A>G missense_variant NA 2 9.80584428319278e-06 0 2 0 0 0 0 0 0 SCN8A constrhet 564 G S 1 SCN8A:564:S:G ENST00000354534;NM_014191.3 12 52115401 rs267603508 G C gnomAD Exomes PASS NA p.Arg569Ser p.Arg569Ser c.1707G>C missense_variant NA 3 1.47575337209646e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 569 S R 1 SCN8A:569:R:S ENST00000354534;NM_014191.3 12 52115411 rs370074236 C T gnomAD Exomes PASS NA p.Arg573Trp p.Arg573Trp c.1717C>T missense_variant NA 4 1.97673384267175e-05 0 0 0 0 0 0 0 4 SCN8A constrhet 573 W R 1 SCN8A:573:R:W ENST00000354534;NM_014191.3 12 52115424 rs373820887 C A gnomAD Exomes PASS NA p.Pro577Gln p.Pro577Gln c.1730C>A missense_variant NA 2 9.98701687805852e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 577 Q P 1 SCN8A:577:P:Q ENST00000354534;NM_014191.3 12 52115424 rs373820887 C G gnomAD Exomes PASS NA p.Pro577Arg p.Pro577Arg c.1730C>G missense_variant NA 2 9.98701687805852e-06 0 0 0 0 0 0 0 2 SCN8A constrhet 577 R P 1 SCN8A:577:P:R ENST00000354534;NM_014191.3 12 52115440 rs745641690 G C gnomAD Exomes PASS NA p.Glu582Asp p.Glu582Asp c.1746G>C missense_variant NA 3 1.54460828733833e-05 0 0 0 0 3 0 0 0 SCN8A constrhet 582 D E 1 SCN8A:582:E:D ENST00000354534;NM_014191.3 12 52115473 rs760717246 G C gnomAD Exomes PASS NA p.Glu593Asp p.Glu593Asp c.1779G>C missense_variant NA 6 3.46720600982375e-05 0 0 0 0 0 6 0 0 SCN8A constrhet 593 D E 1 SCN8A:593:E:D ENST00000354534;NM_014191.3 12 52115484 rs755358223 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg597His p.Arg597His c.1790G>A missense_variant NA 5 2.65595784463709e-05 0 0 0 0 0 5 0 0 SCN8A constrhet 597 H R 1 SCN8A:597:R:H ENST00000354534;NM_014191.3 12 52115504 rs1285097368 C T gnomAD Exomes PASS NA p.Pro604Ser p.Pro604Ser c.1810C>T missense_variant NA 2 1.17377780386173e-05 0 2 0 0 0 0 0 0 SCN8A constrhet 604 S P 1 SCN8A:604:P:S ENST00000354534;NM_014191.3 12 52115511 rs1359860813 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg606Gln p.Arg606Gln c.1817G>A missense_variant NA 2 1.02169048908324e-05 1 0 0 0 0 1 0 0 SCN8A constrhet 606 Q R 1 SCN8A:606:R:Q ENST00000354534;NM_014191.3 12 52115513 rs367949317 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala607Thr p.Ala607Thr c.1819G>A missense_variant NA 32 0.000163463797877014 28 3 0 0 0 0 1 0 SCN8A constrhet 607 T A 1 SCN8A:607:A:T ENST00000354534;NM_014191.3 12 52115522 rs917515945 C A gnomAD Exomes PASS NA p.Arg610Ser p.Arg610Ser c.1828C>A missense_variant NA 2 1.08695652173913e-05 0 1 0 0 0 1 0 0 SCN8A constrhet 610 S R 1 SCN8A:610:R:S ENST00000354534;NM_014191.3 12 52115525 rs745847594 C T gnomAD Exomes PASS NA p.Arg611Trp p.Arg611Trp c.1831C>T missense_variant NA 3 1.60005120163845e-05 0 0 0 0 0 1 0 2 SCN8A constrhet 611 W R 1 SCN8A:611:R:W ENST00000354534;NM_014191.3 12 52115526 rs866054004 G A gnomAD Exomes PASS NA p.Arg611Gln p.Arg611Gln c.1832G>A missense_variant NA 2 1.06131199388684e-05 1 0 0 0 0 0 0 1 SCN8A constrhet 611 Q R 1 SCN8A:611:R:Q ENST00000354534;NM_014191.3 12 52115568 rs765763546 G A gnomAD Exomes PASS NA p.Arg625His p.Arg625His c.1874G>A missense_variant NA 2 1.02380342974149e-05 0 0 0 0 0 1 0 1 SCN8A constrhet 625 H R 1 SCN8A:625:R:H ENST00000354534;NM_014191.3 12 52115570 rs753009673 T C gnomAD Exomes PASS NA p.Ser626Pro p.Ser626Pro c.1876T>C missense_variant NA 2 1.02153393535733e-05 0 0 0 0 0 2 0 0 SCN8A constrhet 626 P S 1 SCN8A:626:S:P ENST00000354534;NM_014191.3 12 52115577 rs763701191 G C gnomAD Exomes PASS NA p.Arg628Pro p.Arg628Pro c.1883G>C missense_variant NA 2 1.01876566352208e-05 0 1 0 0 0 1 0 0 SCN8A constrhet 628 P R 1 SCN8A:628:R:P ENST00000354534;NM_014191.3 12 52115591 rs751275472 C G gnomAD Exomes PASS NA p.Leu633Val p.Leu633Val c.1897C>G missense_variant NA 6 3.05741831597399e-05 0 0 0 6 0 0 0 0 SCN8A constrhet 633 V L 1 SCN8A:633:L:V ENST00000354534;NM_014191.3 12 52115592 rs756775458 T C gnomAD Exomes PASS NA p.Leu633Pro p.Leu633Pro c.1898T>C missense_variant NA 2 1.01967982053635e-05 0 2 0 0 0 0 0 0 SCN8A constrhet 633 P L 1 SCN8A:633:L:P ENST00000354534;NM_014191.3 12 52115595 rs780504431 G T gnomAD Exomes PASS NA p.Arg634Leu p.Arg634Leu c.1901G>T missense_variant NA 2 1.02186797465767e-05 0 0 0 0 0 2 0 0 SCN8A constrhet 634 L R 1 SCN8A:634:R:L ENST00000354534;NM_014191.3 12 52115597 rs749983172 C T gnomAD Exomes PASS NA p.Arg635Cys p.Arg635Cys c.1903C>T missense_variant NA 2 1.02183664919326e-05 0 0 0 0 2 0 0 0 SCN8A constrhet 635 C R 1 SCN8A:635:R:C ENST00000354534;NM_014191.3 12 52115609 rs368345284 C T gnomAD Exomes PASS NA p.Arg639Cys p.Arg639Cys c.1915C>T missense_variant NA 2 1.02659918488025e-05 1 1 0 0 0 0 0 0 SCN8A constrhet 639 C R 1 SCN8A:639:R:C ENST00000354534;NM_014191.3 12 52115636 rs1198938905 G C gnomAD Exomes PASS NA p.Val648Leu p.Val648Leu c.1942G>C missense_variant NA 2 1.03458621724241e-05 0 0 0 0 0 0 0 2 SCN8A constrhet 648 L V 1 SCN8A:648:V:L ENST00000354534;NM_014191.3 12 52115648 rs1048609401 A G gnomAD Genomes NA PASS p.Ile652Val p.Ile652Val c.1954A>G missense_variant NA 2 9.40556809631302e-05 1 0 0 0 0 1 0 0 SCN8A constrhet 652 V I 1 SCN8A:652:I:V ENST00000354534;NM_014191.3 12 52115660 rs759683682 G A gnomAD Exomes PASS NA p.Gly656Ser p.Gly656Ser c.1966G>A missense_variant NA 5 2.61539105327029e-05 0 0 0 5 0 0 0 0 SCN8A constrhet 656 S G 1 SCN8A:656:G:S ENST00000354534;NM_014191.3 12 52139690 rs556325115 A G gnomAD Exomes PASS NA p.Thr668Ala p.Thr668Ala c.2002A>G missense_variant NA 4 2.26945204080475e-05 0 0 0 0 0 0 0 4 SCN8A constrhet 668 A T 1 SCN8A:668:T:A ENST00000354534;NM_014191.3 12 52139691 rs758253791 C T gnomAD Exomes PASS NA p.Thr668Ile p.Thr668Ile c.2003C>T missense_variant NA 3 1.67108576012121e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 668 I T 1 SCN8A:668:T:I ENST00000354534;NM_014191.3 12 52139699 rs781261493 G C gnomAD Exomes PASS NA p.Val671Leu p.Val671Leu c.2011G>C missense_variant NA 2 1.08340014300882e-05 0 0 0 0 0 2 0 0 SCN8A constrhet 671 L V 1 SCN8A:671:V:L ENST00000354534;NM_014191.3 12 52139712 rs780039059 A G gnomAD Exomes PASS NA p.Lys675Arg p.Lys675Arg c.2024A>G missense_variant NA 2 1.06321900185e-05 0 0 0 0 0 2 0 0 SCN8A constrhet 675 R K 1 SCN8A:675:K:R ENST00000354534;NM_014191.3 12 52139730 rs769132740 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Leu681His p.Leu681His c.2042T>A missense_variant NA 4 1.7876935178233e-05 0 0 0 0 0 4 0 0 SCN8A constrhet 681 H L 1 SCN8A:681:L:H ENST00000354534;NM_014191.3 12 52139744 rs373073046 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp686Asn p.Asp686Asn c.2056G>A missense_variant NA 7 3.09997874300291e-05 1 0 0 0 0 6 0 0 SCN8A constrhet 686 N D 1 SCN8A:686:D:N ENST00000354534;NM_014191.3 12 52139744 rs373073046 G C gnomAD Exomes PASS NA p.Asp686His p.Asp686His c.2056G>C missense_variant NA 2 9.77287830811931e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 686 H D 1 SCN8A:686:D:H ENST00000354534;NM_014191.3 12 52139766 rs766163250 G A gnomAD Exomes PASS NA p.Arg693Gln p.Arg693Gln c.2078G>A missense_variant NA 2 9.78176873942346e-06 0 1 0 0 0 1 0 0 SCN8A constrhet 693 Q R 1 SCN8A:693:R:Q ENST00000354534;NM_014191.3 12 52139786 rs187153231 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile700Leu p.Ile700Leu c.2098A>T missense_variant NA 743 0.00329621578457034 3 730 0 0 0 0 10 0 SCN8A constrhet 700 L I 1 SCN8A:700:I:L ENST00000354534;NM_014191.3 12 52139818 rs763887945 A C gnomAD Exomes PASS NA p.Glu710Asp p.Glu710Asp c.2130A>C missense_variant NA 3 1.52043464158287e-05 0 0 0 2 0 1 0 0 SCN8A constrhet 710 D E 1 SCN8A:710:E:D ENST00000354534;NM_014191.3 12 52145166 rs373603736 C T gnomAD Exomes PASS NA p.Pro720Leu p.Pro720Leu c.2159C>T missense_variant NA 2 9.71647330884782e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 720 L P 1 SCN8A:720:P:L ENST00000354534;NM_014191.3 12 52145195 rs923938885 T G gnomAD Exomes,gnomAD Genomes PASS PASS p.Phe730Val p.Phe730Val c.2188T>G missense_variant NA 3 1.32003907315657e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 730 V F 1 SCN8A:730:F:V ENST00000354534;NM_014191.3 12 52145288 rs544063018 A G gnomAD Exomes PASS NA p.Ile761Val p.Ile761Val c.2281A>G missense_variant NA 6 2.91191458383887e-05 0 0 0 6 0 0 0 0 SCN8A constrhet 761 V I 1 SCN8A:761:I:V ENST00000354534;NM_014191.3 12 52156331 rs1280217170 A G gnomAD Exomes PASS NA p.Ile805Met p.Ile805Met c.2415A>G missense_variant NA 2 9.72072361066558e-06 0 0 0 0 2 0 0 0 SCN8A constrhet 805 M I 1 SCN8A:805:I:M ENST00000354534;NM_014191.3 12 52159631 rs1038198905 G C gnomAD Exomes PASS NA p.Lys907Asn p.Lys907Asn c.2721G>C missense_variant NA 2 9.62399068397702e-06 0 1 0 0 0 0 1 0 SCN8A constrhet 907 N K 1 SCN8A:907:K:N ENST00000354534;NM_014191.3 12 52162714 rs759936291 T A gnomAD Exomes PASS NA p.Asp989Glu p.Asp989Glu c.2967T>A missense_variant NA 3 1.46854379197588e-05 0 3 0 0 0 0 0 0 SCN8A constrhet 989 E D 1 SCN8A:989:D:E ENST00000354534;NM_014191.3 12 52162808 rs781237471 G C gnomAD Exomes PASS NA p.Ala1021Pro p.Ala1021Pro c.3061G>C missense_variant NA 9 4.37003515450502e-05 0 0 0 0 0 0 1 8 SCN8A constrhet 1021 P A 1 SCN8A:1021:A:P ENST00000354534;NM_014191.3 12 52162823 rs117217073 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1026Cys p.Arg1026Cys c.3076C>T missense_variant NA 2561 0.0112736941267619 36 138 137 2 552 1513 57 126 SCN8A constrhet 1026 C R 1 SCN8A:1026:R:C ENST00000354534;NM_014191.3 12 52162824 rs780010793 G A gnomAD Exomes PASS NA p.Arg1026His p.Arg1026His c.3077G>A missense_variant NA 3 1.45670667754341e-05 0 3 0 0 0 0 0 0 SCN8A constrhet 1026 H R 1 SCN8A:1026:R:H ENST00000354534;NM_014191.3 12 52162824 rs780010793 G T gnomAD Exomes PASS NA p.Arg1026Leu p.Arg1026Leu c.3077G>T missense_variant NA 2 9.7113778502894e-06 2 0 0 0 0 0 0 0 SCN8A constrhet 1026 L R 1 SCN8A:1026:R:L ENST00000354534;NM_014191.3 12 52162850 rs571608674 G A gnomAD Exomes PASS NA p.Asp1035Asn p.Asp1035Asn c.3103G>A missense_variant NA 8 3.88640051300487e-05 0 0 0 0 0 0 0 8 SCN8A constrhet 1035 N D 1 SCN8A:1035:D:N ENST00000354534;NM_014191.3 12 52162870 rs777192592 G T gnomAD Exomes PASS NA p.Lys1041Asn p.Lys1041Asn c.3123G>T missense_variant NA 3 1.45868990197604e-05 0 0 0 0 0 0 0 3 SCN8A constrhet 1041 N K 1 SCN8A:1041:K:N ENST00000354534;NM_014191.3 12 52162876 rs199680789 C G gnomAD Exomes PASS NA p.Asn1043Lys p.Asn1043Lys c.3129C>G missense_variant NA 3 1.45975456659887e-05 0 3 0 0 0 0 0 0 SCN8A constrhet 1043 K N 1 SCN8A:1043:N:K ENST00000354534;NM_014191.3 12 52162883 rs775833241 G A gnomAD Exomes PASS NA p.Ala1046Thr p.Ala1046Thr c.3136G>A missense_variant NA 3 1.46275817681821e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 1046 T A 1 SCN8A:1046:A:T ENST00000354534;NM_014191.3 12 52162887 rs762469719 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1047Ser p.Asn1047Ser c.3140A>G missense_variant NA 5 2.2075055187638e-05 1 0 0 1 0 0 0 3 SCN8A constrhet 1047 S N 1 SCN8A:1047:N:S ENST00000354534;NM_014191.3 12 52162895 rs202006479 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1050Ser p.Gly1050Ser c.3148G>A missense_variant NA 21 9.29269328802039e-05 1 3 0 1 0 14 2 0 SCN8A constrhet 1050 S G 1 SCN8A:1050:G:S ENST00000354534;NM_014191.3 12 52162905 rs587780453 T G gnomAD Exomes PASS NA p.Ile1053Ser p.Ile1053Ser c.3158T>G missense_variant NA 15 7.33324207520973e-05 0 0 0 0 0 0 0 15 SCN8A constrhet 1053 S I 1 SCN8A:1053:I:S ENST00000354534;NM_014191.3 12 52162910 rs370141803 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1055Trp p.Arg1055Trp c.3163C>T missense_variant NA 11 4.87666471600078e-05 0 0 0 0 1 9 1 0 SCN8A constrhet 1055 W R 1 SCN8A:1055:R:W ENST00000354534;NM_014191.3 12 52162911 rs756127631 G A gnomAD Exomes PASS NA p.Arg1055Gln p.Arg1055Gln c.3164G>A missense_variant NA 6 2.93708758395175e-05 0 0 0 1 0 3 0 2 SCN8A constrhet 1055 Q R 1 SCN8A:1055:R:Q ENST00000354534;NM_014191.3 12 52162977 rs746302474 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr1077Cys p.Tyr1077Cys c.3230A>G missense_variant NA 3 1.31778927670939e-05 1 0 0 0 0 2 0 0 SCN8A constrhet 1077 C Y 1 SCN8A:1077:Y:C ENST00000354534;NM_014191.3 12 52162982 rs538883540 A G gnomAD Exomes PASS NA p.Ile1079Val p.Ile1079Val c.3235A>G missense_variant NA 4 1.93698972426951e-05 0 1 0 0 0 3 0 0 SCN8A constrhet 1079 V I 1 SCN8A:1079:I:V ENST00000354534;NM_014191.3 12 52163013 rs774119406 A G gnomAD Exomes PASS NA p.Asn1089Ser p.Asn1089Ser c.3266A>G missense_variant NA 2 9.6668793380121e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1089 S N 1 SCN8A:1089:N:S ENST00000354534;NM_014191.3 12 52163019 rs558738676 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1091Ser p.Asn1091Ser c.3272A>G missense_variant NA 6 2.62971046887738e-05 0 0 0 0 0 5 1 0 SCN8A constrhet 1091 S N 1 SCN8A:1091:N:S ENST00000354534;NM_014191.3 12 52163019 rs558738676 A C gnomAD Exomes PASS NA p.Asn1091Thr p.Asn1091Thr c.3272A>C missense_variant NA 3 1.44990575612585e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 1091 T N 1 SCN8A:1091:N:T ENST00000354534;NM_014191.3 12 52163027 rs575624653 G A gnomAD Exomes PASS NA p.Val1094Ile p.Val1094Ile c.3280G>A missense_variant NA 2 9.66594494277761e-06 1 1 0 0 0 0 0 0 SCN8A constrhet 1094 I V 1 SCN8A:1094:V:I ENST00000354534;NM_014191.3 12 52163045 rs754870866 G A gnomAD Exomes PASS NA p.Val1100Met p.Val1100Met c.3298G>A missense_variant NA 4 1.93356278278356e-05 1 1 0 0 0 0 0 2 SCN8A constrhet 1100 M V 1 SCN8A:1100:V:M ENST00000354534;NM_014191.3 12 52163097 rs770263378 C T gnomAD Exomes PASS NA p.Ser1117Leu p.Ser1117Leu c.3350C>T missense_variant NA 8 4.04780457199526e-05 0 0 0 0 0 5 0 3 SCN8A constrhet 1117 L S 1 SCN8A:1117:S:L ENST00000354534;NM_014191.3 12 52163111 rs554826191 A T gnomAD Exomes PASS NA p.Ser1122Cys p.Ser1122Cys c.3364A>T missense_variant NA 2 1.06388637693494e-05 2 0 0 0 0 0 0 0 SCN8A constrhet 1122 C S 1 SCN8A:1122:S:C ENST00000354534;NM_014191.3 12 52163689 rs1171704983 T C gnomAD Exomes PASS NA p.Ile1137Thr p.Ile1137Thr c.3410T>C missense_variant NA 2 1.01098945537998e-05 0 0 0 0 0 2 0 0 SCN8A constrhet 1137 T I 1 SCN8A:1137:I:T ENST00000354534;NM_014191.3 12 52163700 rs780984594 C A gnomAD Exomes PASS NA p.Pro1141Thr p.Pro1141Thr c.3421C>A missense_variant NA 4 2.01763412222828e-05 0 0 0 0 0 4 0 0 SCN8A constrhet 1141 T P 1 SCN8A:1141:P:T ENST00000354534;NM_014191.3 12 52163721 rs536452913 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1148Met p.Val1148Met c.3442G>A missense_variant NA 9 4.11903083781087e-05 0 0 0 0 0 8 1 0 SCN8A constrhet 1148 M V 1 SCN8A:1148:V:M ENST00000354534;NM_014191.3 12 52163731 rs1352068232 C T gnomAD Genomes NA PASS p.Pro1151Leu p.Pro1151Leu c.3452C>T missense_variant NA 2 9.41176470588235e-05 0 0 0 0 0 2 0 0 SCN8A constrhet 1151 L P 1 SCN8A:1151:P:L ENST00000354534;NM_014191.3 12 52164324 rs201042588 C T gnomAD Exomes PASS NA p.Arg1168Trp p.Arg1168Trp c.3502C>T missense_variant NA 2 1.02709475976254e-05 0 0 0 2 0 0 0 0 SCN8A constrhet 1168 W R 1 SCN8A:1168:R:W ENST00000354534;NM_014191.3 12 52164325 rs763817893 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1168Gln p.Arg1168Gln c.3503G>A missense_variant NA 4 1.83412200579583e-05 0 2 0 0 0 1 0 1 SCN8A constrhet 1168 Q R 1 SCN8A:1168:R:Q ENST00000354534;NM_014191.3 12 52164351 rs148742419 G A gnomAD Exomes PASS NA p.Glu1177Lys p.Glu1177Lys c.3529G>A missense_variant NA 3 1.46119077306733e-05 1 0 0 0 0 1 0 1 SCN8A constrhet 1177 K E 1 SCN8A:1177:E:K ENST00000354534;NM_014191.3 12 52164352 rs560509683 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu1177Gly p.Glu1177Gly c.3530A>G missense_variant NA 2 8.82028665931643e-06 2 0 0 0 0 0 0 0 SCN8A constrhet 1177 G E 1 SCN8A:1177:E:G ENST00000354534;NM_014191.3 12 52164462 rs769243993 G A gnomAD Exomes PASS NA p.Ala1214Thr p.Ala1214Thr c.3640G>A missense_variant NA 8 3.86495835507372e-05 1 0 0 2 0 2 0 3 SCN8A constrhet 1214 T A 1 SCN8A:1214:A:T ENST00000354534;NM_014191.3 12 52168037 rs377197765 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1237Arg p.Lys1237Arg c.3710A>G missense_variant NA 2 8.75503414463316e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1237 R K 1 SCN8A:1237:K:R ENST00000354534;NM_014191.3 12 52168066 rs1327733187 A C gnomAD Exomes PASS NA p.Met1247Leu p.Met1247Leu c.3739A>C missense_variant NA 2 9.63855421686747e-06 0 0 0 0 0 0 0 2 SCN8A constrhet 1247 L M 1 SCN8A:1247:M:L ENST00000354534;NM_014191.3 12 52168096 rs750829844 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1257Ile p.Val1257Ile c.3769G>A missense_variant NA 5 2.18833703891739e-05 2 1 0 0 0 1 1 0 SCN8A constrhet 1257 I V 1 SCN8A:1257:V:I ENST00000354534;NM_014191.3 12 52180472 rs750239826 C G gnomAD Exomes PASS NA p.Ile1363Met p.Ile1363Met c.4089C>G missense_variant NA 3 1.45618344028192e-05 0 0 0 0 0 0 0 3 SCN8A constrhet 1363 M I 1 SCN8A:1363:I:M ENST00000354534;NM_014191.3 12 52180517 rs752899010 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Lys1378Asn p.Lys1378Asn c.4134G>T missense_variant NA 2 8.80405690942386e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1378 N K 1 SCN8A:1378:K:N ENST00000354534;NM_014191.3 12 52180523 rs777863633 G A gnomAD Exomes PASS NA p.Met1380Ile p.Met1380Ile c.4140G>A missense_variant NA 2 9.71411363570131e-06 0 0 0 0 0 1 0 1 SCN8A constrhet 1380 I M 1 SCN8A:1380:M:I ENST00000354534;NM_014191.3 12 52182518 rs751631247 G A gnomAD Exomes PASS NA p.Val1423Ile p.Val1423Ile c.4267G>A missense_variant NA 2 9.71118923223338e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1423 I V 1 SCN8A:1423:V:I ENST00000354534;NM_014191.3 12 52184279 rs760096460 G A gnomAD Exomes PASS NA p.Arg1506His p.Arg1506His c.4517G>A missense_variant NA 2 9.98332784250302e-06 0 1 0 0 0 0 0 1 SCN8A constrhet 1506 H R 1 SCN8A:1506:R:H ENST00000354534;NM_014191.3 12 52188173 rs184568764 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1515Ile p.Val1515Ile c.4543G>A missense_variant NA 115 0.000506987611867919 1 0 0 0 95 15 4 0 SCN8A constrhet 1515 I V 1 SCN8A:1515:V:I ENST00000354534;NM_014191.3 12 52188206 rs774231634 A G gnomAD Exomes PASS NA p.Ile1526Val p.Ile1526Val c.4576A>G missense_variant NA 2 9.70939772605905e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1526 V I 1 SCN8A:1526:I:V ENST00000354534;NM_014191.3 12 52188220 rs771231471 G A gnomAD Exomes PASS NA p.Met1530Ile p.Met1530Ile c.4590G>A missense_variant NA 8 3.88300505761409e-05 0 0 0 0 0 0 0 8 SCN8A constrhet 1530 I M 1 SCN8A:1530:M:I ENST00000354534;NM_014191.3 12 52188264 rs759753811 C T gnomAD Exomes PASS NA p.Thr1545Ile p.Thr1545Ile c.4634C>T missense_variant NA 2 9.70609931280817e-06 0 1 0 1 0 0 0 0 SCN8A constrhet 1545 I T 1 SCN8A:1545:T:I ENST00000354534;NM_014191.3 12 52188308 rs764328953 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1560Met p.Val1560Met c.4678G>A missense_variant NA 3 1.31995776135164e-05 0 3 0 0 0 0 0 0 SCN8A constrhet 1560 M V 1 SCN8A:1560:V:M ENST00000354534;NM_014191.3 12 52188317 rs751979396 A G gnomAD Exomes PASS NA p.Ile1563Val p.Ile1563Val c.4687A>G missense_variant NA 2 9.70836084035571e-06 0 0 0 0 0 1 1 0 SCN8A constrhet 1563 V I 1 SCN8A:1563:I:V ENST00000354534;NM_014191.3 12 52188338 rs1253616121 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1570Met p.Val1570Met c.4708G>A missense_variant NA 2 8.79995072027597e-06 0 1 0 1 0 0 0 0 SCN8A constrhet 1570 M V 1 SCN8A:1570:V:M ENST00000354534;NM_014191.3 12 52188349 rs780940263 G A gnomAD Exomes PASS NA p.Met1573Ile p.Met1573Ile c.4719G>A missense_variant NA 14 6.79532481652623e-05 0 5 0 0 0 8 0 1 SCN8A constrhet 1573 I M 1 SCN8A:1573:M:I ENST00000354534;NM_014191.3 12 52188352 rs1377093609 T G gnomAD Exomes PASS NA p.Phe1574Leu p.Phe1574Leu c.4722T>G missense_variant NA 2 9.70779535967382e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1574 L F 1 SCN8A:1574:F:L ENST00000354534;NM_014191.3 12 52188378 rs201458257 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1583Thr p.Ile1583Thr c.4748T>C missense_variant NA 44 0.00019360573072963 0 0 0 0 3 38 3 0 SCN8A constrhet 1583 T I 1 SCN8A:1583:I:T ENST00000354534;NM_014191.3 12 52200420 rs780491922 G A gnomAD Exomes PASS NA p.Arg1717His p.Arg1717His c.5150G>A missense_variant NA 2 9.65912932608255e-06 0 0 0 0 0 1 0 1 SCN8A constrhet 1717 H R 1 SCN8A:1717:R:H ENST00000354534;NM_014191.3 12 52200483 rs761093069 A G gnomAD Exomes PASS NA p.Asn1738Ser p.Asn1738Ser c.5213A>G missense_variant NA 2 9.66407669411265e-06 0 0 0 2 0 0 0 0 SCN8A constrhet 1738 S N 1 SCN8A:1738:N:S ENST00000354534;NM_014191.3 12 52200749 rs764115258 A G gnomAD Exomes PASS NA p.Ile1827Val p.Ile1827Val c.5479A>G missense_variant NA 4 1.93766530707151e-05 0 1 0 3 0 0 0 0 SCN8A constrhet 1827 V I 1 SCN8A:1827:I:V ENST00000354534;NM_014191.3 12 52200776 rs202187894 A G gnomAD Exomes PASS NA p.Met1836Val p.Met1836Val c.5506A>G missense_variant NA 6 2.9086678301338e-05 0 3 0 1 0 2 0 0 SCN8A constrhet 1836 V M 1 SCN8A:1836:M:V ENST00000354534;NM_014191.3 12 52200791 rs779068291 C T gnomAD Exomes PASS NA p.Arg1841Cys p.Arg1841Cys c.5521C>T missense_variant NA 2 9.70026190707149e-06 2 0 0 0 0 0 0 0 SCN8A constrhet 1841 C R 1 SCN8A:1841:R:C ENST00000354534;NM_014191.3 12 52200828 rs1410900258 A G gnomAD Exomes PASS NA p.Lys1853Arg p.Lys1853Arg c.5558A>G missense_variant NA 2 9.70365051332311e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1853 R K 1 SCN8A:1853:K:R ENST00000354534;NM_014191.3 12 52200932 rs748964384 A T gnomAD Exomes PASS NA p.Thr1888Ser p.Thr1888Ser c.5662A>T missense_variant NA 2 9.70581669594588e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1888 S T 1 SCN8A:1888:T:S ENST00000354534;NM_014191.3 12 52200941 rs774029281 C T gnomAD Exomes PASS NA p.Arg1891Cys p.Arg1891Cys c.5671C>T missense_variant NA 2 9.70581669594588e-06 0 0 0 0 0 1 0 1 SCN8A constrhet 1891 C R 1 SCN8A:1891:R:C ENST00000354534;NM_014191.3 12 52200981 rs142069713 G A gnomAD Exomes PASS NA p.Arg1904His p.Arg1904His c.5711G>A missense_variant NA 3 1.45587250439188e-05 0 0 0 0 0 2 1 0 SCN8A constrhet 1904 H R 1 SCN8A:1904:R:H ENST00000354534;NM_014191.3 12 52200995 rs758646467 C T gnomAD Exomes PASS NA p.His1909Tyr p.His1909Tyr c.5725C>T missense_variant NA 2 9.7056282938476e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1909 Y H 1 SCN8A:1909:H:Y ENST00000354534;NM_014191.3 12 52201031 rs368796221 A C gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1921Pro p.Thr1921Pro c.5761A>C missense_variant NA 27 0.000118773204765005 1 0 0 0 1 25 0 0 SCN8A constrhet 1921 P T 1 SCN8A:1921:T:P ENST00000354534;NM_014191.3 12 52201031 rs368796221 A G gnomAD Exomes PASS NA p.Thr1921Ala p.Thr1921Ala c.5761A>G missense_variant NA 2 9.7056282938476e-06 0 0 0 0 0 0 0 2 SCN8A constrhet 1921 A T 1 SCN8A:1921:T:A ENST00000354534;NM_014191.3 12 52201056 rs748909364 G C gnomAD Exomes PASS NA p.Gly1929Ala p.Gly1929Ala c.5786G>C missense_variant NA 2 9.70854934855634e-06 0 0 0 0 0 2 0 0 SCN8A constrhet 1929 A G 1 SCN8A:1929:G:A ENST00000354534;NM_014191.3 12 52201064 rs773966403 C T gnomAD Exomes PASS NA p.Arg1932Trp p.Arg1932Trp c.5794C>T missense_variant NA 3 1.45666423889294e-05 0 0 0 0 0 3 0 0 SCN8A constrhet 1932 W R 1 SCN8A:1932:R:W ENST00000354534;NM_014191.3 12 52201065 rs371766742 G A gnomAD Exomes PASS NA p.Arg1932Gln p.Arg1932Gln c.5795G>A missense_variant NA 2 9.71147216206505e-06 1 0 0 1 0 0 0 0 SCN8A constrhet 1932 Q R 1 SCN8A:1932:R:Q ENST00000354534;NM_014191.3 12 52201065 rs371766742 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1932Pro p.Arg1932Pro c.5795G>C missense_variant NA 13 5.72384642479746e-05 0 5 0 0 0 8 0 0 SCN8A constrhet 1932 P R 1 SCN8A:1932:R:P ENST00000354534;NM_014191.3 12 52201079 rs796053230 A C gnomAD Exomes PASS NA p.Ser1937Arg p.Ser1937Arg c.5809A>C missense_variant NA 2 9.71335878233334e-06 0 2 0 0 0 0 0 0 SCN8A constrhet 1937 R S 1 SCN8A:1937:S:R ENST00000354534;NM_014191.3 12 52201149 rs369346315 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1960Gln p.Arg1960Gln c.5879G>A missense_variant NA 8 3.53756898259516e-05 0 0 0 0 0 7 0 1 SCN8A constrhet 1960 Q R 1 SCN8A:1960:R:Q ENST00000354534;NM_014191.3 12 52201173 rs754672110 G A gnomAD Exomes PASS NA p.Arg1968Lys p.Arg1968Lys c.5903G>A missense_variant NA 3 1.47443332612499e-05 0 0 0 0 0 0 0 3 SCN8A constrhet 1968 K R 1 SCN8A:1968:R:K ENST00000354534;NM_014191.3 1 181452903 rs763180598 T C gnomAD Exomes PASS NA p.Val8Ala p.Val8Ala c.23T>C missense_variant NA 8 3.91041245075324e-05 0 0 0 0 0 0 0 8 CACNA1E constrhet 8 A V 1 CACNA1E:8:V:A ENST00000367573;NM_001205293.1 1 181452908 rs751662861 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala10Ser p.Ala10Ser c.28G>T missense_variant NA 5 2.21625311383563e-05 3 1 0 0 0 0 0 1 CACNA1E constrhet 10 S A 1 CACNA1E:10:A:S ENST00000367573;NM_001205293.1 1 181452909 rs761740155 C A gnomAD Exomes PASS NA p.Ala10Asp p.Ala10Asp c.29C>A missense_variant NA 2 9.76657876745776e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 10 D A 1 CACNA1E:10:A:D ENST00000367573;NM_001205293.1 1 181452912 rs767620162 G T gnomAD Exomes PASS NA p.Arg11Met p.Arg11Met c.32G>T missense_variant NA 2 9.74915426086787e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 11 M R 1 CACNA1E:11:R:M ENST00000367573;NM_001205293.1 1 181452930 rs780589733 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly17Glu p.Gly17Glu c.50G>A missense_variant NA 4 1.76480450378109e-05 0 3 0 0 0 0 1 0 CACNA1E constrhet 17 E G 1 CACNA1E:17:G:E ENST00000367573;NM_001205293.1 1 181452936 rs758128368 C T gnomAD Exomes PASS NA p.Ser19Leu p.Ser19Leu c.56C>T missense_variant NA 3 1.45937110834371e-05 0 0 0 0 0 1 0 2 CACNA1E constrhet 19 L S 1 CACNA1E:19:S:L ENST00000367573;NM_001205293.1 1 181452972 rs780719691 C T gnomAD Exomes PASS NA p.Pro31Leu p.Pro31Leu c.92C>T missense_variant NA 2 9.74241066209423e-06 0 0 0 0 0 0 0 2 CACNA1E constrhet 31 L P 1 CACNA1E:31:P:L ENST00000367573;NM_001205293.1 1 181452993 rs971589755 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala38Val p.Ala38Val c.113C>T missense_variant NA 2 8.8172536018481e-06 2 0 0 0 0 0 0 0 CACNA1E constrhet 38 V A 1 CACNA1E:38:A:V ENST00000367573;NM_001205293.1 1 181453002 rs773295315 A C gnomAD Exomes PASS NA p.Gln41Pro p.Gln41Pro c.122A>C missense_variant NA 3 1.45657936900982e-05 0 3 0 0 0 0 0 0 CACNA1E constrhet 41 P Q 1 CACNA1E:41:Q:P ENST00000367573;NM_001205293.1 1 181453047 rs370195946 T C gnomAD Exomes PASS NA p.Ile56Thr p.Ile56Thr c.167T>C missense_variant NA 2 9.70543989906343e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 56 T I 1 CACNA1E:56:I:T ENST00000367573;NM_001205293.1 1 181453070 rs756045659 A G gnomAD Exomes PASS NA p.Thr64Ala p.Thr64Ala c.190A>G missense_variant NA 3 1.45588663496069e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 64 A T 1 CACNA1E:64:T:A ENST00000367573;NM_001205293.1 1 181453073 rs779908347 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Val65Phe p.Val65Phe c.193G>T missense_variant NA 3 1.31992291650168e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 65 F V 1 CACNA1E:65:V:F ENST00000367573;NM_001205293.1 1 181453077 rs768401805 A G gnomAD Exomes PASS NA p.Asn66Ser p.Asn66Ser c.197A>G missense_variant NA 4 1.94118217994759e-05 0 0 0 0 0 0 1 3 CACNA1E constrhet 66 S N 1 CACNA1E:66:N:S ENST00000367573;NM_001205293.1 1 181453080 rs1427594736 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg67Thr p.Arg67Thr c.200G>C missense_variant NA 2 8.79902154880377e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 67 T R 1 CACNA1E:67:R:T ENST00000367573;NM_001205293.1 1 181453088 rs772298538 T C gnomAD Exomes PASS NA p.Phe70Leu p.Phe70Leu c.208T>C missense_variant NA 2 9.70609931280817e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 70 L F 1 CACNA1E:70:F:L ENST00000367573;NM_001205293.1 1 181453109 rs766557860 A G gnomAD Exomes PASS NA p.Ile77Val p.Ile77Val c.229A>G missense_variant NA 3 1.4564945090157e-05 0 3 0 0 0 0 0 0 CACNA1E constrhet 77 V I 1 CACNA1E:77:I:V ENST00000367573;NM_001205293.1 1 181453121 rs777347120 T C gnomAD Exomes PASS NA p.Tyr81His p.Tyr81His c.241T>C missense_variant NA 6 2.91412085830573e-05 0 1 0 0 0 3 2 0 CACNA1E constrhet 81 H Y 1 CACNA1E:81:Y:H ENST00000367573;NM_001205293.1 1 181453124 rs760059469 G T gnomAD Exomes PASS NA p.Ala82Ser p.Ala82Ser c.244G>T missense_variant NA 2 9.7143967359627e-06 0 0 0 0 0 0 0 2 CACNA1E constrhet 82 S A 1 CACNA1E:82:A:S ENST00000367573;NM_001205293.1 1 181453133 rs753054065 C T gnomAD Exomes PASS NA p.Leu85Phe p.Leu85Phe c.253C>T missense_variant NA 2 9.71826742728306e-06 0 2 0 0 0 0 0 0 CACNA1E constrhet 85 F L 1 CACNA1E:85:L:F ENST00000367573;NM_001205293.1 1 181479636 rs372638168 C T gnomAD Exomes PASS NA p.Ala97Val p.Ala97Val c.290C>T missense_variant NA 3 1.45611276137224e-05 1 0 0 0 0 2 0 0 CACNA1E constrhet 97 V A 1 CACNA1E:97:A:V ENST00000367573;NM_001205293.1 1 181479711 rs369308237 G A gnomAD Exomes PASS NA p.Arg122Gln p.Arg122Gln c.365G>A missense_variant NA 3 1.45662180271514e-05 0 0 0 0 0 2 0 1 CACNA1E constrhet 122 Q R 1 CACNA1E:122:R:Q ENST00000367573;NM_001205293.1 1 181480536 rs1352808556 C G gnomAD Exomes PASS NA p.Ile134Met p.Ile134Met c.402C>G missense_variant NA 2 9.70449803483915e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 134 M I 1 CACNA1E:134:I:M ENST00000367573;NM_001205293.1 1 181480603 rs758390509 C T gnomAD Exomes PASS NA p.Arg157Cys p.Arg157Cys c.469C>T missense_variant NA 5 2.4261951437278e-05 1 0 0 2 1 1 0 0 CACNA1E constrhet 157 C R 1 CACNA1E:157:R:C ENST00000367573;NM_001205293.1 1 181480618 rs757554194 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val162Ile p.Val162Ile c.484G>A missense_variant NA 2 8.79786036036036e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 162 I V 1 CACNA1E:162:V:I ENST00000367573;NM_001205293.1 1 181546919 rs751409680 G A gnomAD Exomes PASS NA p.Gly177Glu p.Gly177Glu c.530G>A missense_variant NA 8 4.00440484532986e-05 0 4 0 0 0 2 2 0 CACNA1E constrhet 177 E G 1 CACNA1E:177:G:E ENST00000367573;NM_001205293.1 1 181547003 rs373595017 C T gnomAD Exomes PASS NA p.Pro205Leu p.Pro205Leu c.614C>T missense_variant NA 2 1.01429136533761e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 205 L P 1 CACNA1E:205:P:L ENST00000367573;NM_001205293.1 1 181548303 rs1282710723 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile238Val p.Ile238Val c.712A>G missense_variant NA 5 2.20000704002253e-05 0 0 0 0 0 5 0 0 CACNA1E constrhet 238 V I 1 CACNA1E:238:I:V ENST00000367573;NM_001205293.1 1 181549733 rs747543665 A G gnomAD Exomes PASS NA p.Ile258Val p.Ile258Val c.772A>G missense_variant NA 2 9.70779535967382e-06 1 0 0 0 0 1 0 0 CACNA1E constrhet 258 V I 1 CACNA1E:258:I:V ENST00000367573;NM_001205293.1 1 181680145 rs749043003 C T gnomAD Exomes PASS NA p.Arg371Trp p.Arg371Trp c.1111C>T missense_variant NA 2 9.7110949259529e-06 0 0 0 1 0 1 0 0 CACNA1E constrhet 371 W R 1 CACNA1E:371:R:W ENST00000367573;NM_001205293.1 1 181680148 rs768773946 C T gnomAD Exomes PASS NA p.Arg372Cys p.Arg372Cys c.1114C>T missense_variant NA 2 9.71128354034553e-06 1 0 1 0 0 0 0 0 CACNA1E constrhet 372 C R 1 CACNA1E:372:R:C ENST00000367573;NM_001205293.1 1 181680184 rs773379517 C T gnomAD Exomes PASS NA p.Arg384Cys p.Arg384Cys c.1150C>T missense_variant NA 2 9.7122267222206e-06 0 1 0 0 0 0 0 1 CACNA1E constrhet 384 C R 1 CACNA1E:384:R:C ENST00000367573;NM_001205293.1 1 181680185 rs370964593 G A gnomAD Exomes PASS NA p.Arg384His p.Arg384His c.1151G>A missense_variant NA 2 9.712415380581e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 384 H R 1 CACNA1E:384:R:H ENST00000367573;NM_001205293.1 1 181684488 rs777265667 G A gnomAD Exomes PASS NA p.Ala396Thr p.Ala396Thr c.1186G>A missense_variant NA 2 1.01386973801606e-05 1 0 0 0 0 0 0 1 CACNA1E constrhet 396 T A 1 CACNA1E:396:A:T ENST00000367573;NM_001205293.1 1 181684504 rs746325499 A G gnomAD Exomes PASS NA p.Asn401Ser p.Asn401Ser c.1202A>G missense_variant NA 3 1.52061960180041e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 401 S N 1 CACNA1E:401:N:S ENST00000367573;NM_001205293.1 1 181684506 rs770239808 G A gnomAD Exomes PASS NA p.Ala402Thr p.Ala402Thr c.1204G>A missense_variant NA 2 1.01332522673152e-05 0 0 0 0 0 0 0 2 CACNA1E constrhet 402 T A 1 CACNA1E:402:A:T ENST00000367573;NM_001205293.1 1 181684510 rs191210738 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly403Ala p.Gly403Ala c.1208G>C missense_variant NA 8 3.6693881295294e-05 0 7 0 0 0 0 1 0 CACNA1E constrhet 403 A G 1 CACNA1E:403:G:A ENST00000367573;NM_001205293.1 1 181685182 rs1210233585 G A gnomAD Exomes PASS NA p.Arg411Gln p.Arg411Gln c.1232G>A missense_variant NA 2 1.32520540683806e-05 0 0 0 1 1 0 0 0 CACNA1E constrhet 411 Q R 1 CACNA1E:411:R:Q ENST00000367573;NM_001205293.1 1 181685217 rs746405819 A G gnomAD Exomes PASS NA p.Met423Val p.Met423Val c.1267A>G missense_variant NA 7 4.43178220955999e-05 0 0 0 6 0 1 0 0 CACNA1E constrhet 423 V M 1 CACNA1E:423:M:V ENST00000367573;NM_001205293.1 1 181685247 rs575438278 G A gnomAD Exomes PASS NA p.Val433Ile p.Val433Ile c.1297G>A missense_variant NA 12 8.03686240891556e-05 0 0 0 0 0 0 1 11 CACNA1E constrhet 433 I V 1 CACNA1E:433:V:I ENST00000367573;NM_001205293.1 1 181685262 rs768993953 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val438Leu p.Val438Leu c.1312G>C missense_variant NA 2 1.2292260792605e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 438 L V 1 CACNA1E:438:V:L ENST00000367573;NM_001205293.1 1 181686244 rs757539233 G A gnomAD Exomes PASS NA p.Arg444Gln p.Arg444Gln c.1331G>A missense_variant NA 16 7.76359842787132e-05 0 8 0 0 0 8 0 0 CACNA1E constrhet 444 Q R 1 CACNA1E:444:R:Q ENST00000367573;NM_001205293.1 1 181686261 rs35606457 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala450Ser p.Ala450Ser c.1348G>T missense_variant NA 50 0.000219913617930877 41 7 0 0 0 0 2 0 CACNA1E constrhet 450 S A 1 CACNA1E:450:A:S ENST00000367573;NM_001205293.1 1 181686262 rs770425338 C T gnomAD Exomes PASS NA p.Ala450Val p.Ala450Val c.1349C>T missense_variant NA 20 9.70421551121807e-05 0 0 0 0 0 0 0 20 CACNA1E constrhet 450 V A 1 CACNA1E:450:A:V ENST00000367573;NM_001205293.1 1 181686289 rs781394397 G A gnomAD Exomes PASS NA p.Arg459Gln p.Arg459Gln c.1376G>A missense_variant NA 5 2.42603033508331e-05 0 0 0 1 0 0 0 4 CACNA1E constrhet 459 Q R 1 CACNA1E:459:R:Q ENST00000367573;NM_001205293.1 1 181686310 rs762966764 G A gnomAD Exomes PASS NA p.Arg466His p.Arg466His c.1397G>A missense_variant NA 2 9.70487475859124e-06 0 0 0 0 0 1 1 0 CACNA1E constrhet 466 H R 1 CACNA1E:466:R:H ENST00000367573;NM_001205293.1 1 181686329 rs754223861 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met472Ile p.Met472Ile c.1416G>A missense_variant NA 4 1.75940180338685e-05 0 0 0 0 0 4 0 0 CACNA1E constrhet 472 I M 1 CACNA1E:472:M:I ENST00000367573;NM_001205293.1 1 181687234 rs144517660 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Met523Ile p.Met523Ile c.1569G>A missense_variant NA 42 0.000184961730537182 0 8 0 0 0 31 2 1 CACNA1E constrhet 523 I M 1 CACNA1E:523:M:I ENST00000367573;NM_001205293.1 1 181687235 rs745542051 T A gnomAD Exomes PASS NA p.Ser524Thr p.Ser524Thr c.1570T>A missense_variant NA 5 2.42916553305608e-05 0 0 0 0 0 0 0 5 CACNA1E constrhet 524 T S 1 CACNA1E:524:S:T ENST00000367573;NM_001205293.1 1 181688944 rs377297262 T C gnomAD Exomes PASS NA p.Phe566Leu p.Phe566Leu c.1696T>C missense_variant NA 2 1.03700016592003e-05 0 1 0 0 0 0 1 0 CACNA1E constrhet 566 L F 1 CACNA1E:566:F:L ENST00000367573;NM_001205293.1 1 181689433 rs746915512 G A gnomAD Exomes PASS NA p.Val615Ile p.Val615Ile c.1843G>A missense_variant NA 2 9.72668028401906e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 615 I V 1 CACNA1E:615:V:I ENST00000367573;NM_001205293.1 1 181689932 rs777239816 G T gnomAD Exomes PASS NA p.Asp633Tyr p.Asp633Tyr c.1897G>T missense_variant NA 3 1.47470874502286e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 633 Y D 1 CACNA1E:633:D:Y ENST00000367573;NM_001205293.1 1 181690930 rs367947941 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn665Asp p.Asn665Asp c.1993A>G missense_variant NA 10 4.39850450846712e-05 1 1 0 0 0 8 0 0 CACNA1E constrhet 665 D N 1 CACNA1E:665:N:D ENST00000367573;NM_001205293.1 1 181690939 rs1228711500 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg668Cys p.Arg668Cys c.2002C>T missense_variant NA 3 1.31974871984374e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 668 C R 1 CACNA1E:668:R:C ENST00000367573;NM_001205293.1 1 181695268 rs1415894919 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro737Leu p.Pro737Leu c.2210C>T missense_variant NA 3 1.32860938883968e-05 3 0 0 0 0 0 0 0 CACNA1E constrhet 737 L P 1 CACNA1E:737:P:L ENST00000367573;NM_001205293.1 1 181695287 rs770442548 G A gnomAD Exomes PASS NA p.Met743Ile p.Met743Ile c.2229G>A missense_variant NA 4 1.96964772850376e-05 0 0 0 4 0 0 0 0 CACNA1E constrhet 743 I M 1 CACNA1E:743:M:I ENST00000367573;NM_001205293.1 1 181695292 rs776757923 C T gnomAD Exomes PASS NA p.Ser745Leu p.Ser745Leu c.2234C>T missense_variant NA 2 9.8917838843057e-06 1 0 0 0 0 0 0 1 CACNA1E constrhet 745 L S 1 CACNA1E:745:S:L ENST00000367573;NM_001205293.1 1 181695297 rs1357407338 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu747Lys p.Glu747Lys c.2239G>A missense_variant NA 4 1.80643995845188e-05 0 0 0 0 0 4 0 0 CACNA1E constrhet 747 K E 1 CACNA1E:747:E:K ENST00000367573;NM_001205293.1 1 181700319 rs775550860 G C gnomAD Exomes PASS NA p.Arg750Thr p.Arg750Thr c.2249G>C missense_variant NA 5 2.42661904022364e-05 0 5 0 0 0 0 0 0 CACNA1E constrhet 750 T R 1 CACNA1E:750:R:T ENST00000367573;NM_001205293.1 1 181700330 rs142822925 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.His754Tyr p.His754Tyr c.2260C>T missense_variant NA 18 7.9191193939234e-05 2 1 0 11 0 0 2 2 CACNA1E constrhet 754 Y H 1 CACNA1E:754:H:Y ENST00000367573;NM_001205293.1 1 181700340 rs763922481 C T gnomAD Exomes PASS NA p.Ser757Leu p.Ser757Leu c.2270C>T missense_variant NA 4 1.94127638922592e-05 0 0 0 2 0 2 0 0 CACNA1E constrhet 757 L S 1 CACNA1E:757:S:L ENST00000367573;NM_001205293.1 1 181700354 rs774490890 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg762Cys p.Arg762Cys c.2284C>T missense_variant NA 4 1.75988173594734e-05 1 1 0 0 0 0 0 2 CACNA1E constrhet 762 C R 1 CACNA1E:762:R:C ENST00000367573;NM_001205293.1 1 181701528 rs1206135758 G A gnomAD Exomes PASS NA p.Arg769Gln p.Arg769Gln c.2306G>A missense_variant NA 3 2.77484877074199e-05 0 1 0 0 0 1 0 1 CACNA1E constrhet 769 Q R 1 CACNA1E:769:R:Q ENST00000367573;NM_001205293.1 1 181701551 rs368380946 G A gnomAD Exomes PASS NA p.Val777Met p.Val777Met c.2329G>A missense_variant NA 2 1.61277316345456e-05 0 0 0 0 0 1 1 0 CACNA1E constrhet 777 M V 1 CACNA1E:777:V:M ENST00000367573;NM_001205293.1 1 181701608 rs765523410 G A gnomAD Exomes PASS NA p.Ala796Thr p.Ala796Thr c.2386G>A missense_variant NA 2 1.52830419366671e-05 0 0 0 0 0 0 0 2 CACNA1E constrhet 796 T A 1 CACNA1E:796:A:T ENST00000367573;NM_001205293.1 1 181701627 rs374689888 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala802Val p.Ala802Val c.2405C>T missense_variant NA 45 0.000295998105612124 3 4 0 2 1 9 3 23 CACNA1E constrhet 802 V A 1 CACNA1E:802:A:V ENST00000367573;NM_001205293.1 1 181701630 rs566701744 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro803Leu p.Pro803Leu c.2408C>T missense_variant NA 5 3.28791625019727e-05 0 1 0 0 0 1 3 0 CACNA1E constrhet 803 L P 1 CACNA1E:803:P:L ENST00000367573;NM_001205293.1 1 181701647 rs958027601 A G gnomAD Exomes PASS NA p.Asn809Asp p.Asn809Asp c.2425A>G missense_variant NA 2 1.52818741690481e-05 0 1 0 0 0 1 0 0 CACNA1E constrhet 809 D N 1 CACNA1E:809:N:D ENST00000367573;NM_001205293.1 1 181701650 rs745482696 C T gnomAD Exomes PASS NA p.Pro810Ser p.Pro810Ser c.2428C>T missense_variant NA 3 2.292070962517e-05 0 0 0 3 0 0 0 0 CACNA1E constrhet 810 S P 1 CACNA1E:810:P:S ENST00000367573;NM_001205293.1 1 181701660 rs186600513 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro813Leu p.Pro813Leu c.2438C>T missense_variant NA 3 1.97217912645613e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 813 L P 1 CACNA1E:813:P:L ENST00000367573;NM_001205293.1 1 181701678 rs866117834 C T gnomAD Exomes PASS NA p.Pro819Leu p.Pro819Leu c.2456C>T missense_variant NA 8 6.15365681055967e-05 0 0 0 0 6 2 0 0 CACNA1E constrhet 819 L P 1 CACNA1E:819:P:L ENST00000367573;NM_001205293.1 1 181701692 rs1284163110 C T gnomAD Exomes PASS NA p.Pro824Ser p.Pro824Ser c.2470C>T missense_variant NA 11 8.84173297966401e-05 0 11 0 0 0 0 0 0 CACNA1E constrhet 824 S P 1 CACNA1E:824:P:S ENST00000367573;NM_001205293.1 1 181701699 rs1218563653 T G gnomAD Exomes PASS NA p.Leu826Arg p.Leu826Arg c.2477T>G missense_variant NA 2 1.67361215711871e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 826 R L 1 CACNA1E:826:L:R ENST00000367573;NM_001205293.1 1 181701705 rs926850053 G A gnomAD Exomes PASS NA p.Arg828Gln p.Arg828Gln c.2483G>A missense_variant NA 2 1.79015771289451e-05 0 1 0 0 0 1 0 0 CACNA1E constrhet 828 Q R 1 CACNA1E:828:R:Q ENST00000367573;NM_001205293.1 1 181701708 rs748035206 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg829Gln p.Arg829Gln c.2486G>A missense_variant NA 4 2.96709491736641e-05 0 0 0 0 1 0 0 3 CACNA1E constrhet 829 Q R 1 CACNA1E:829:R:Q ENST00000367573;NM_001205293.1 1 181701714 rs773503365 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg831Thr p.Arg831Thr c.2492G>C missense_variant NA 68 0.000550946331345605 0 0 0 0 27 39 2 0 CACNA1E constrhet 831 T R 1 CACNA1E:831:R:T ENST00000367573;NM_001205293.1 1 181701758 rs776705172 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu846Lys p.Glu846Lys c.2536G>A missense_variant NA 3 2.77223331115547e-05 0 1 0 0 0 0 0 2 CACNA1E constrhet 846 K E 1 CACNA1E:846:E:K ENST00000367573;NM_001205293.1 1 181701768 rs570878178 G A gnomAD Exomes PASS NA p.Arg849His p.Arg849His c.2546G>A missense_variant NA 2 2.15494020040944e-05 1 1 0 0 0 0 0 0 CACNA1E constrhet 849 H R 1 CACNA1E:849:R:H ENST00000367573;NM_001205293.1 1 181701770 rs765828134 A G gnomAD Exomes PASS NA p.Ile850Val p.Ile850Val c.2548A>G missense_variant NA 3 3.10571866329869e-05 2 0 0 1 0 0 0 0 CACNA1E constrhet 850 V I 1 CACNA1E:850:I:V ENST00000367573;NM_001205293.1 1 181701776 rs980201415 C T gnomAD Exomes PASS NA p.Arg852Cys p.Arg852Cys c.2554C>T missense_variant NA 2 1.96703253471812e-05 0 0 0 1 0 1 0 0 CACNA1E constrhet 852 C R 1 CACNA1E:852:R:C ENST00000367573;NM_001205293.1 1 181701777 rs538192254 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg852His p.Arg852His c.2555G>A missense_variant NA 11 8.71080139372822e-05 0 0 0 7 1 1 0 2 CACNA1E constrhet 852 H R 1 CACNA1E:852:R:H ENST00000367573;NM_001205293.1 1 181701779 rs556292815 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly853Arg p.Gly853Arg c.2557G>A missense_variant NA 8 6.22219456802414e-05 7 0 0 0 0 1 0 0 CACNA1E constrhet 853 R G 1 CACNA1E:853:G:R ENST00000367573;NM_001205293.1 1 181701782 rs750125514 G C gnomAD Exomes PASS NA p.Gly854Arg p.Gly854Arg c.2560G>C missense_variant NA 3 2.71941115683751e-05 0 2 0 0 0 0 1 0 CACNA1E constrhet 854 R G 1 CACNA1E:854:G:R ENST00000367573;NM_001205293.1 1 181701799 rs35737760 T A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp859Glu p.Asp859Glu c.2577T>A missense_variant NA 19045 0.127686820333347 2191 2102 322 589 1479 8748 411 3203 CACNA1E constrhet 859 E D 1 CACNA1E:859:D:E ENST00000367573;NM_001205293.1 1 181701810 rs202202209 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg863Gln p.Arg863Gln c.2588G>A missense_variant NA 237 0.00149374141256255 223 7 0 0 0 6 1 0 CACNA1E constrhet 863 Q R 1 CACNA1E:863:R:Q ENST00000367573;NM_001205293.1 1 181701827 rs777502766 A G gnomAD Exomes PASS NA p.Asn869Asp p.Asn869Asp c.2605A>G missense_variant NA 10 6.88572451593357e-05 0 10 0 0 0 0 0 0 CACNA1E constrhet 869 D N 1 CACNA1E:869:N:D ENST00000367573;NM_001205293.1 1 181701857 rs771126920 C T gnomAD Exomes PASS NA p.Arg879Trp p.Arg879Trp c.2635C>T missense_variant NA 6 3.87121749790309e-05 1 3 0 0 0 2 0 0 CACNA1E constrhet 879 W R 1 CACNA1E:879:R:W ENST00000367573;NM_001205293.1 1 181701858 rs572337472 G A gnomAD Exomes PASS NA p.Arg879Gln p.Arg879Gln c.2636G>A missense_variant NA 11 7.06713780918728e-05 0 1 0 3 0 1 0 6 CACNA1E constrhet 879 Q R 1 CACNA1E:879:R:Q ENST00000367573;NM_001205293.1 1 181701876 rs769727778 C A gnomAD Exomes PASS NA p.Ala885Asp p.Ala885Asp c.2654C>A missense_variant NA 6 3.65844735494256e-05 0 6 0 0 0 0 0 0 CACNA1E constrhet 885 D A 1 CACNA1E:885:A:D ENST00000367573;NM_001205293.1 1 181701887 rs374935515 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.His889Asp p.His889Asp c.2665C>G missense_variant NA 9 4.70357053265323e-05 0 0 0 0 1 8 0 0 CACNA1E constrhet 889 D H 1 CACNA1E:889:H:D ENST00000367573;NM_001205293.1 1 181701902 rs751910426 C A gnomAD Exomes PASS NA p.Pro894Thr p.Pro894Thr c.2680C>A missense_variant NA 2 1.12971373054068e-05 0 0 0 0 0 0 0 2 CACNA1E constrhet 894 T P 1 CACNA1E:894:P:T ENST00000367573;NM_001205293.1 1 181701903 rs200322209 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro894Leu p.Pro894Leu c.2681C>T missense_variant NA 66 0.000331578312768779 19 10 0 0 0 37 0 0 CACNA1E constrhet 894 L P 1 CACNA1E:894:P:L ENST00000367573;NM_001205293.1 1 181701953 rs370013304 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg911Trp p.Arg911Trp c.2731C>T missense_variant NA 6 2.68158821531366e-05 2 0 0 2 0 0 1 1 CACNA1E constrhet 911 W R 1 CACNA1E:911:R:W ENST00000367573;NM_001205293.1 1 181701954 rs781514358 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg911Gln p.Arg911Gln c.2732G>A missense_variant NA 6 2.6727010316626e-05 1 0 0 1 0 3 1 0 CACNA1E constrhet 911 Q R 1 CACNA1E:911:R:Q ENST00000367573;NM_001205293.1 1 181701977 rs769941881 C T gnomAD Exomes PASS NA p.Arg919Trp p.Arg919Trp c.2755C>T missense_variant NA 8 3.90716574197077e-05 0 2 0 0 0 6 0 0 CACNA1E constrhet 919 W R 1 CACNA1E:919:R:W ENST00000367573;NM_001205293.1 1 181701978 rs201406071 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg919Gln p.Arg919Gln c.2756G>A missense_variant NA 249 0.00109995935893132 6 11 5 0 85 132 9 1 CACNA1E constrhet 919 Q R 1 CACNA1E:919:R:Q ENST00000367573;NM_001205293.1 1 181701980 rs769232172 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg920Cys p.Arg920Cys c.2758C>T missense_variant NA 5 2.20908552695526e-05 1 0 0 1 0 2 0 1 CACNA1E constrhet 920 C R 1 CACNA1E:920:R:C ENST00000367573;NM_001205293.1 1 181701981 rs377338098 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg920His p.Arg920His c.2759G>A missense_variant NA 8 3.53169698039908e-05 0 0 0 1 0 6 0 1 CACNA1E constrhet 920 H R 1 CACNA1E:920:R:H ENST00000367573;NM_001205293.1 1 181701986 rs767745136 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg922Trp p.Arg922Trp c.2764C>T missense_variant NA 4 1.76467993117748e-05 0 3 0 1 0 0 0 0 CACNA1E constrhet 922 W R 1 CACNA1E:922:R:W ENST00000367573;NM_001205293.1 1 181701987 rs199820931 G T gnomAD Exomes PASS NA p.Arg922Leu p.Arg922Leu c.2765G>T missense_variant NA 2 9.73198123674017e-06 0 0 0 0 0 0 0 2 CACNA1E constrhet 922 L R 1 CACNA1E:922:R:L ENST00000367573;NM_001205293.1 1 181701987 rs199820931 G A gnomAD Exomes PASS NA p.Arg922Gln p.Arg922Gln c.2765G>A missense_variant NA 10 4.86599061837009e-05 1 0 0 0 0 4 0 5 CACNA1E constrhet 922 Q R 1 CACNA1E:922:R:Q ENST00000367573;NM_001205293.1 1 181701989 rs560469774 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.His923Tyr p.His923Tyr c.2767C>T missense_variant NA 78 0.000344009385281691 0 0 0 77 0 0 1 0 CACNA1E constrhet 923 Y H 1 CACNA1E:923:H:Y ENST00000367573;NM_001205293.1 1 181701990 rs1157364148 A G gnomAD Exomes PASS NA p.His923Arg p.His923Arg c.2768A>G missense_variant NA 2 9.72573429293912e-06 0 0 0 2 0 0 0 0 CACNA1E constrhet 923 R H 1 CACNA1E:923:H:R ENST00000367573;NM_001205293.1 1 181701992 rs757890592 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg924Cys p.Arg924Cys c.2770C>T missense_variant NA 8 3.52705693551658e-05 2 2 0 0 0 3 1 0 CACNA1E constrhet 924 C R 1 CACNA1E:924:R:C ENST00000367573;NM_001205293.1 1 181701993 rs764081616 G A gnomAD Exomes PASS NA p.Arg924His p.Arg924His c.2771G>A missense_variant NA 6 2.91842988472202e-05 0 2 0 0 0 3 0 1 CACNA1E constrhet 924 H R 1 CACNA1E:924:R:H ENST00000367573;NM_001205293.1 1 181701996 rs373971175 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg925His p.Arg925His c.2774G>A missense_variant NA 5 2.20347796962726e-05 0 0 0 0 0 2 1 2 CACNA1E constrhet 925 H R 1 CACNA1E:925:R:H ENST00000367573;NM_001205293.1 1 181701998 rs370910420 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val926Ile p.Val926Ile c.2776G>A missense_variant NA 70 0.000308380912102629 1 3 0 2 0 9 1 54 CACNA1E constrhet 926 I V 1 CACNA1E:926:V:I ENST00000367573;NM_001205293.1 1 181702034 rs375056155 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg938Trp p.Arg938Trp c.2812C>T missense_variant NA 15 6.60147344887379e-05 0 1 1 12 0 0 0 1 CACNA1E constrhet 938 W R 1 CACNA1E:938:R:W ENST00000367573;NM_001205293.1 1 181702035 rs762485881 G A gnomAD Exomes PASS NA p.Arg938Gln p.Arg938Gln c.2813G>A missense_variant NA 10 4.85493455548219e-05 0 0 0 1 0 2 0 7 CACNA1E constrhet 938 Q R 1 CACNA1E:938:R:Q ENST00000367573;NM_001205293.1 1 181702038 rs1482138540 G A gnomAD Exomes PASS NA p.Ser939Asn p.Ser939Asn c.2816G>A missense_variant NA 3 1.45628240228345e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 939 N S 1 CACNA1E:939:S:N ENST00000367573;NM_001205293.1 1 181702058 rs757105337 C T gnomAD Exomes PASS NA p.Arg946Cys p.Arg946Cys c.2836C>T missense_variant NA 3 1.4559007658038e-05 0 0 0 0 0 2 0 1 CACNA1E constrhet 946 C R 1 CACNA1E:946:R:C ENST00000367573;NM_001205293.1 1 181702059 rs767352253 G A gnomAD Exomes PASS NA p.Arg946His p.Arg946His c.2837G>A missense_variant NA 3 1.4559007658038e-05 0 0 0 0 0 1 0 2 CACNA1E constrhet 946 H R 1 CACNA1E:946:R:H ENST00000367573;NM_001205293.1 1 181702106 rs779087765 C T gnomAD Exomes PASS NA p.Leu962Phe p.Leu962Phe c.2884C>T missense_variant NA 2 9.71770079199261e-06 0 0 0 0 0 0 0 2 CACNA1E constrhet 962 F L 1 CACNA1E:962:L:F ENST00000367573;NM_001205293.1 1 181702111 rs748692975 G T gnomAD Exomes PASS NA p.Arg963Ser p.Arg963Ser c.2889G>T missense_variant NA 5 2.43176468299516e-05 0 0 0 0 0 5 0 0 CACNA1E constrhet 963 S R 1 CACNA1E:963:R:S ENST00000367573;NM_001205293.1 1 181702120 rs778330521 T G gnomAD Exomes PASS NA p.His966Gln p.His966Gln c.2898T>G missense_variant NA 9 4.38399937649787e-05 0 0 0 0 8 1 0 0 CACNA1E constrhet 966 Q H 1 CACNA1E:966:H:Q ENST00000367573;NM_001205293.1 1 181702137 rs747398390 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr972Met p.Thr972Met c.2915C>T missense_variant NA 2 8.91003537284043e-06 0 0 0 0 0 1 0 1 CACNA1E constrhet 972 M T 1 CACNA1E:972:T:M ENST00000367573;NM_001205293.1 1 181702604 rs148719824 G A gnomAD Exomes PASS NA p.Gly994Arg p.Gly994Arg c.2980G>A missense_variant NA 10 6.03529440166091e-05 5 0 0 0 0 4 0 1 CACNA1E constrhet 994 R G 1 CACNA1E:994:G:R ENST00000367573;NM_001205293.1 1 181702605 rs1429283789 G T gnomAD Exomes PASS NA p.Gly994Val p.Gly994Val c.2981G>T missense_variant NA 2 1.19981762772059e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 994 V G 1 CACNA1E:994:G:V ENST00000367573;NM_001205293.1 1 181702611 rs545969150 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala996Val p.Ala996Val c.2987C>T missense_variant NA 6 3.13820661952383e-05 4 2 0 0 0 0 0 0 CACNA1E constrhet 996 V A 1 CACNA1E:996:A:V ENST00000367573;NM_001205293.1 1 181702616 rs41304253 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly998Ser p.Gly998Ser c.2992G>A missense_variant NA 5424 0.0280095844005618 125 603 351 2 175 3633 161 374 CACNA1E constrhet 998 S G 1 CACNA1E:998:G:S ENST00000367573;NM_001205293.1 1 181702625 rs369934954 G A gnomAD Exomes PASS NA p.Glu1001Lys p.Glu1001Lys c.3001G>A missense_variant NA 2 1.10514333709082e-05 2 0 0 0 0 0 0 0 CACNA1E constrhet 1001 K E 1 CACNA1E:1001:E:K ENST00000367573;NM_001205293.1 1 181702638 rs368922708 C G gnomAD Exomes PASS NA p.Pro1005Arg p.Pro1005Arg c.3014C>G missense_variant NA 2 1.01899404907475e-05 1 0 0 0 0 1 0 0 CACNA1E constrhet 1005 R P 1 CACNA1E:1005:P:R ENST00000367573;NM_001205293.1 1 181702652 rs1234271289 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.His1010Tyr p.His1010Tyr c.3028C>T missense_variant NA 2 8.94766510679038e-06 1 0 0 0 0 1 0 0 CACNA1E constrhet 1010 Y H 1 CACNA1E:1010:H:Y ENST00000367573;NM_001205293.1 1 181702677 rs143890308 A G gnomAD Exomes PASS NA p.His1018Arg p.His1018Arg c.3053A>G missense_variant NA 2 9.77220978979977e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1018 R H 1 CACNA1E:1018:H:R ENST00000367573;NM_001205293.1 1 181702679 rs547399351 G A gnomAD Exomes PASS NA p.Val1019Met p.Val1019Met c.3055G>A missense_variant NA 12 5.86355507344103e-05 1 2 0 0 0 6 2 1 CACNA1E constrhet 1019 M V 1 CACNA1E:1019:V:M ENST00000367573;NM_001205293.1 1 181702689 rs74127835 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1022Met p.Thr1022Met c.3065C>T missense_variant NA 707 0.00312984195847536 317 63 13 0 193 98 8 15 CACNA1E constrhet 1022 M T 1 CACNA1E:1022:T:M ENST00000367573;NM_001205293.1 1 181702697 rs747813929 G A gnomAD Exomes PASS NA p.Glu1025Lys p.Glu1025Lys c.3073G>A missense_variant NA 2 9.75685907192757e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1025 K E 1 CACNA1E:1025:E:K ENST00000367573;NM_001205293.1 1 181702697 rs747813929 G C gnomAD Exomes PASS NA p.Glu1025Gln p.Glu1025Gln c.3073G>C missense_variant NA 7 3.41490067517465e-05 0 0 0 0 0 0 0 7 CACNA1E constrhet 1025 Q E 1 CACNA1E:1025:E:Q ENST00000367573;NM_001205293.1 1 181702713 rs1334265515 G T gnomAD Exomes PASS NA p.Ser1030Ile p.Ser1030Ile c.3089G>T missense_variant NA 2 9.7695366308776e-06 1 1 0 0 0 0 0 0 CACNA1E constrhet 1030 I S 1 CACNA1E:1030:S:I ENST00000367573;NM_001205293.1 1 181702714 rs746949281 T G gnomAD Exomes PASS NA p.Ser1030Arg p.Ser1030Arg c.3090T>G missense_variant NA 2 9.77517106549365e-06 0 2 0 0 0 0 0 0 CACNA1E constrhet 1030 R S 1 CACNA1E:1030:S:R ENST00000367573;NM_001205293.1 1 181702733 rs765058950 A G gnomAD Exomes PASS NA p.Asn1037Asp p.Asn1037Asp c.3109A>G missense_variant NA 2 9.78770468537423e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1037 D N 1 CACNA1E:1037:N:D ENST00000367573;NM_001205293.1 1 181702736 rs558308956 G A gnomAD Exomes PASS NA p.Val1038Met p.Val1038Met c.3112G>A missense_variant NA 5 2.44639938937871e-05 1 0 0 0 0 0 0 4 CACNA1E constrhet 1038 M V 1 CACNA1E:1038:V:M ENST00000367573;NM_001205293.1 1 181702748 rs570189573 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1042Val p.Met1042Val c.3124A>G missense_variant NA 27 0.000119677668147124 1 17 0 0 1 6 2 0 CACNA1E constrhet 1042 V M 1 CACNA1E:1042:M:V ENST00000367573;NM_001205293.1 1 181702754 rs377401371 C T gnomAD Exomes PASS NA p.Arg1044Trp p.Arg1044Trp c.3130C>T missense_variant NA 19 9.31363418005706e-05 0 0 0 0 4 15 0 0 CACNA1E constrhet 1044 W R 1 CACNA1E:1044:R:W ENST00000367573;NM_001205293.1 1 181702767 rs370791292 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Gln1048Arg p.Gln1048Arg c.3143A>G missense_variant NA 7 3.09857908016467e-05 0 0 0 0 0 7 0 0 CACNA1E constrhet 1048 R Q 1 CACNA1E:1048:Q:R ENST00000367573;NM_001205293.1 1 181702791 rs780418929 T C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1056Thr p.Ile1056Thr c.3167T>C missense_variant NA 3 1.33404482390608e-05 0 0 0 3 0 0 0 0 CACNA1E constrhet 1056 T I 1 CACNA1E:1056:I:T ENST00000367573;NM_001205293.1 1 181702794 rs202026230 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1057Met p.Thr1057Met c.3170C>T missense_variant NA 31 0.000138896356434934 3 1 0 0 2 25 0 0 CACNA1E constrhet 1057 M T 1 CACNA1E:1057:T:M ENST00000367573;NM_001205293.1 1 181702800 A T gnomAD Exomes PASS NA p.Asn1059Ile p.Asn1059Ile c.3176A>T missense_variant NA 2 1.03772116432315e-05 0 0 0 1 0 1 0 0 CACNA1E constrhet 1059 I N 1 CACNA1E:1059:N:I ENST00000367573;NM_001205293.1 1 181702802 rs777276812 A G gnomAD Exomes PASS NA p.Thr1060Ala p.Thr1060Ala c.3178A>G missense_variant NA 2 9.8837669012414e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1060 A T 1 CACNA1E:1060:T:A ENST00000367573;NM_001205293.1 1 181702803 rs746583309 C T gnomAD Exomes PASS NA p.Thr1060Met p.Thr1060Met c.3179C>T missense_variant NA 4 2.07187328422994e-05 3 0 0 1 0 0 0 0 CACNA1E constrhet 1060 M T 1 CACNA1E:1060:T:M ENST00000367573;NM_001205293.1 1 181702811 rs745746461 G C gnomAD Exomes PASS NA p.Ala1063Pro p.Ala1063Pro c.3187G>C missense_variant NA 3 1.4965131244201e-05 0 3 0 0 0 0 0 0 CACNA1E constrhet 1063 P A 1 CACNA1E:1063:A:P ENST00000367573;NM_001205293.1 1 181702815 rs769503828 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1064Ile p.Thr1064Ile c.3191C>T missense_variant NA 2 9.09371987705291e-06 1 0 0 0 0 1 0 0 CACNA1E constrhet 1064 I T 1 CACNA1E:1064:T:I ENST00000367573;NM_001205293.1 1 181702818 rs775285956 C T gnomAD Exomes PASS NA p.Thr1065Ile p.Thr1065Ile c.3194C>T missense_variant NA 2 1.01091791346543e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 1065 I T 1 CACNA1E:1065:T:I ENST00000367573;NM_001205293.1 1 181702832 rs767567788 G A gnomAD Exomes PASS NA p.Val1070Ile p.Val1070Ile c.3208G>A missense_variant NA 3 1.56867666436594e-05 1 0 0 0 0 1 0 1 CACNA1E constrhet 1070 I V 1 CACNA1E:1070:V:I ENST00000367573;NM_001205293.1 1 181702838 rs553844010 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1072Ile p.Val1072Ile c.3214G>A missense_variant NA 3 1.43058787624461e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 1072 I V 1 CACNA1E:1072:V:I ENST00000367573;NM_001205293.1 1 181702838 rs553844010 G T gnomAD Exomes PASS NA p.Val1072Phe p.Val1072Phe c.3214G>T missense_variant NA 2 1.0611430633078e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 1072 F V 1 CACNA1E:1072:V:F ENST00000367573;NM_001205293.1 1 181702841 rs373647895 G A gnomAD Exomes PASS NA p.Ala1073Thr p.Ala1073Thr c.3217G>A missense_variant NA 6 3.21688219777392e-05 0 2 0 0 0 3 0 1 CACNA1E constrhet 1073 T A 1 CACNA1E:1073:A:T ENST00000367573;NM_001205293.1 1 181702853 rs371974841 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1077Met p.Val1077Met c.3229G>A missense_variant NA 21 0.000104912922274512 19 0 0 0 0 1 0 1 CACNA1E constrhet 1077 M V 1 CACNA1E:1077:V:M ENST00000367573;NM_001205293.1 1 181702859 rs1007809575 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1079Ser p.Pro1079Ser c.3235C>T missense_variant NA 2 1.0268416404822e-05 2 0 0 0 0 0 0 0 CACNA1E constrhet 1079 S P 1 CACNA1E:1079:P:S ENST00000367573;NM_001205293.1 1 181702860 rs745794317 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1079Leu p.Pro1079Leu c.3236C>T missense_variant NA 3 1.55082038398313e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 1079 L P 1 CACNA1E:1079:P:L ENST00000367573;NM_001205293.1 1 181702865 rs375232970 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1081Met p.Val1081Met c.3241G>A missense_variant NA 7 3.65546701202126e-05 0 0 0 0 0 7 0 0 CACNA1E constrhet 1081 M V 1 CACNA1E:1081:V:M ENST00000367573;NM_001205293.1 1 181702883 rs371930330 C T gnomAD Exomes PASS NA p.His1087Tyr p.His1087Tyr c.3259C>T missense_variant NA 2 1.34127367348034e-05 0 2 0 0 0 0 0 0 CACNA1E constrhet 1087 Y H 1 CACNA1E:1087:H:Y ENST00000367573;NM_001205293.1 1 181702883 rs371930330 C G gnomAD Exomes PASS NA p.His1087Asp p.His1087Asp c.3259C>G missense_variant NA 2 1.34127367348034e-05 2 0 0 0 0 0 0 0 CACNA1E constrhet 1087 D H 1 CACNA1E:1087:H:D ENST00000367573;NM_001205293.1 1 181702886 rs772170723 A G gnomAD Exomes PASS NA p.Ile1088Val p.Ile1088Val c.3262A>G missense_variant NA 2 1.36720352191627e-05 0 2 0 0 0 0 0 0 CACNA1E constrhet 1088 V I 1 CACNA1E:1088:I:V ENST00000367573;NM_001205293.1 1 181705423 rs1382064469 C T gnomAD Exomes PASS NA p.Thr1092Met p.Thr1092Met c.3275C>T missense_variant NA 2 1.13910785073131e-05 1 1 0 0 0 0 0 0 CACNA1E constrhet 1092 M T 1 CACNA1E:1092:T:M ENST00000367573;NM_001205293.1 1 181705443 rs773411866 T A gnomAD Exomes PASS NA p.Leu1099Met p.Leu1099Met c.3295T>A missense_variant NA 7 3.75782432708103e-05 0 0 0 0 0 0 0 7 CACNA1E constrhet 1099 M L 1 CACNA1E:1099:L:M ENST00000367573;NM_001205293.1 1 181705491 rs373021789 A C gnomAD Exomes PASS NA p.Lys1115Gln p.Lys1115Gln c.3343A>C missense_variant NA 3 1.50884181302432e-05 1 1 0 0 0 1 0 0 CACNA1E constrhet 1115 Q K 1 CACNA1E:1115:K:Q ENST00000367573;NM_001205293.1 1 181705509 rs376475241 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1121Cys p.Arg1121Cys c.3361C>T missense_variant NA 18 8.11541929666366e-05 3 1 0 9 0 3 0 2 CACNA1E constrhet 1121 C R 1 CACNA1E:1121:R:C ENST00000367573;NM_001205293.1 1 181705510 rs370899738 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1121His p.Arg1121His c.3362G>A missense_variant NA 15 6.74946004319654e-05 5 4 0 1 0 4 1 0 CACNA1E constrhet 1121 H R 1 CACNA1E:1121:R:H ENST00000367573;NM_001205293.1 1 181705533 rs753850027 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1129Ser p.Pro1129Ser c.3385C>T missense_variant NA 4 1.79451059209877e-05 0 0 0 0 0 4 0 0 CACNA1E constrhet 1129 S P 1 CACNA1E:1129:P:S ENST00000367573;NM_001205293.1 1 181706665 rs754474207 C T gnomAD Exomes PASS NA p.Arg1143Trp p.Arg1143Trp c.3427C>T missense_variant NA 2 9.73065545695158e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1143 W R 1 CACNA1E:1143:R:W ENST00000367573;NM_001205293.1 1 181706686 rs546281059 G A gnomAD Exomes PASS NA p.Val1150Met p.Val1150Met c.3448G>A missense_variant NA 2 9.70986911096438e-06 1 0 0 0 0 1 0 0 CACNA1E constrhet 1150 M V 1 CACNA1E:1150:V:M ENST00000367573;NM_001205293.1 1 181706695 rs372912168 C T gnomAD Exomes PASS NA p.Arg1153Cys p.Arg1153Cys c.3457C>T missense_variant NA 15 7.28176548831519e-05 0 1 0 0 0 13 1 0 CACNA1E constrhet 1153 C R 1 CACNA1E:1153:R:C ENST00000367573;NM_001205293.1 1 181706707 rs757363772 A G gnomAD Exomes PASS NA p.Met1157Val p.Met1157Val c.3469A>G missense_variant NA 2 9.70732417609086e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1157 V M 1 CACNA1E:1157:M:V ENST00000367573;NM_001205293.1 1 181706729 rs377232916 C T gnomAD Genomes NA PASS p.Ala1164Val p.Ala1164Val c.3491C>T missense_variant NA 2 9.40999341300461e-05 1 0 0 0 0 1 0 0 CACNA1E constrhet 1164 V A 1 CACNA1E:1164:A:V ENST00000367573;NM_001205293.1 1 181706743 rs769961549 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1169Thr p.Ala1169Thr c.3505G>A missense_variant NA 5 2.19975538720094e-05 1 0 0 1 0 3 0 0 CACNA1E constrhet 1169 T A 1 CACNA1E:1169:A:T ENST00000367573;NM_001205293.1 1 181706777 rs202226007 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser1180Leu p.Ser1180Leu c.3539C>T missense_variant NA 15 6.60600882562779e-05 0 10 0 0 0 5 0 0 CACNA1E constrhet 1180 L S 1 CACNA1E:1180:S:L ENST00000367573;NM_001205293.1 1 181706783 rs376174454 G A gnomAD Exomes PASS NA p.Arg1182His p.Arg1182His c.3545G>A missense_variant NA 3 1.45988243080157e-05 0 1 0 0 0 2 0 0 CACNA1E constrhet 1182 H R 1 CACNA1E:1182:R:H ENST00000367573;NM_001205293.1 1 181707559 rs1201264561 A G gnomAD Exomes PASS NA p.Ile1203Met p.Ile1203Met c.3609A>G missense_variant NA 3 1.45583011433119e-05 0 3 0 0 0 0 0 0 CACNA1E constrhet 1203 M I 1 CACNA1E:1203:I:M ENST00000367573;NM_001205293.1 1 181708361 rs376915340 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1231Ile p.Val1231Ile c.3691G>A missense_variant NA 19 8.3584820996507e-05 5 4 0 0 0 9 1 0 CACNA1E constrhet 1231 I V 1 CACNA1E:1231:V:I ENST00000367573;NM_001205293.1 1 181719616 rs767788342 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1242Thr p.Ala1242Thr c.3724G>A missense_variant NA 9 3.96472277777288e-05 5 1 0 0 0 3 0 0 CACNA1E constrhet 1242 T A 1 CACNA1E:1242:A:T ENST00000367573;NM_001205293.1 1 181721285 rs751178486 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn1246Lys p.Asn1246Lys c.3738C>A missense_variant NA 2 8.79724118516433e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1246 K N 1 CACNA1E:1246:N:K ENST00000367573;NM_001205293.1 1 181724395 rs376774223 C A gnomAD Exomes PASS NA p.Thr1284Asn p.Thr1284Asn c.3851C>A missense_variant NA 3 1.45667838483501e-05 3 0 0 0 0 0 0 0 CACNA1E constrhet 1284 N T 1 CACNA1E:1284:T:N ENST00000367573;NM_001205293.1 1 181724528 rs779159820 G T gnomAD Exomes PASS NA p.Glu1328Asp p.Glu1328Asp c.3984G>T missense_variant NA 7 3.40291483962548e-05 0 0 0 0 0 7 0 0 CACNA1E constrhet 1328 D E 1 CACNA1E:1328:E:D ENST00000367573;NM_001205293.1 1 181725204 rs574530214 G A gnomAD Exomes PASS NA p.Val1368Ile p.Val1368Ile c.4102G>A missense_variant NA 4 1.94573349288348e-05 0 0 0 0 0 3 0 1 CACNA1E constrhet 1368 I V 1 CACNA1E:1368:V:I ENST00000367573;NM_001205293.1 1 181726099 rs375022550 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1389Gln p.Arg1389Gln c.4166G>A missense_variant NA 2 8.79654471723507e-06 2 0 0 0 0 0 0 0 CACNA1E constrhet 1389 Q R 1 CACNA1E:1389:R:Q ENST00000367573;NM_001205293.1 1 181726111 rs760283783 G A gnomAD Exomes PASS NA p.Arg1393His p.Arg1393His c.4178G>A missense_variant NA 2 9.70402717127608e-06 0 0 0 0 0 1 0 1 CACNA1E constrhet 1393 H R 1 CACNA1E:1393:R:H ENST00000367573;NM_001205293.1 1 181726119 rs770435124 C T gnomAD Exomes PASS NA p.Arg1396Cys p.Arg1396Cys c.4186C>T missense_variant NA 3 1.45561820104999e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 1396 C R 1 CACNA1E:1396:R:C ENST00000367573;NM_001205293.1 1 181726120 rs776066299 G A gnomAD Exomes PASS NA p.Arg1396His p.Arg1396His c.4187G>A missense_variant NA 2 9.70412134033324e-06 0 0 0 0 0 1 0 1 CACNA1E constrhet 1396 H R 1 CACNA1E:1396:R:H ENST00000367573;NM_001205293.1 1 181726241 rs750597963 G C gnomAD Exomes PASS NA p.Glu1436Asp p.Glu1436Asp c.4308G>C missense_variant NA 2 9.70666459591155e-06 0 0 0 0 0 0 0 2 CACNA1E constrhet 1436 D E 1 CACNA1E:1436:E:D ENST00000367573;NM_001205293.1 1 181727104 rs769190799 A G gnomAD Exomes PASS NA p.Ile1451Val p.Ile1451Val c.4351A>G missense_variant NA 4 1.94123870441729e-05 0 1 0 0 0 2 0 1 CACNA1E constrhet 1451 V I 1 CACNA1E:1451:I:V ENST00000367573;NM_001205293.1 1 181727110 rs373070905 G A gnomAD Exomes PASS NA p.Ala1453Thr p.Ala1453Thr c.4357G>A missense_variant NA 3 1.4559007658038e-05 1 1 0 0 0 0 0 1 CACNA1E constrhet 1453 T A 1 CACNA1E:1453:A:T ENST00000367573;NM_001205293.1 1 181727165 rs1298140930 T C gnomAD Exomes PASS NA p.Val1471Ala p.Val1471Ala c.4412T>C missense_variant NA 2 9.70299143225857e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1471 A V 1 CACNA1E:1471:V:A ENST00000367573;NM_001205293.1 1 181727945 rs778501089 G A gnomAD Exomes PASS NA p.Ala1516Thr p.Ala1516Thr c.4546G>A missense_variant NA 2 9.70732417609086e-06 1 1 0 0 0 0 0 0 CACNA1E constrhet 1516 T A 1 CACNA1E:1516:A:T ENST00000367573;NM_001205293.1 1 181727954 rs558577396 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1519Val p.Met1519Val c.4555A>G missense_variant NA 23 0.000101190528566526 0 0 0 22 0 1 0 0 CACNA1E constrhet 1519 V M 1 CACNA1E:1519:M:V ENST00000367573;NM_001205293.1 1 181727964 rs576927174 C T gnomAD Exomes PASS NA p.Ser1522Phe p.Ser1522Phe c.4565C>T missense_variant NA 4 1.94121986256163e-05 0 0 0 0 0 0 0 4 CACNA1E constrhet 1522 F S 1 CACNA1E:1522:S:F ENST00000367573;NM_001205293.1 1 181731752 rs773509097 G A gnomAD Exomes PASS NA p.Val1550Met p.Val1550Met c.4648G>A missense_variant NA 5 2.46718642060594e-05 0 0 2 0 0 3 0 0 CACNA1E constrhet 1550 M V 1 CACNA1E:1550:V:M ENST00000367573;NM_001205293.1 1 181732566 rs772523843 A T gnomAD Exomes PASS NA p.Met1572Leu p.Met1572Leu c.4714A>T missense_variant NA 8 3.89203495047386e-05 0 0 0 8 0 0 0 0 CACNA1E constrhet 1572 L M 1 CACNA1E:1572:M:L ENST00000367573;NM_001205293.1 1 181735736 rs944914239 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1624Val p.Ile1624Val c.4870A>G missense_variant NA 3 1.32384869292006e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 1624 V I 1 CACNA1E:1624:I:V ENST00000367573;NM_001205293.1 1 181740487 rs1317486763 G A gnomAD Exomes PASS NA p.Arg1647Gln p.Arg1647Gln c.4940G>A missense_variant NA 2 1.02040816326531e-05 0 0 0 0 0 1 0 1 CACNA1E constrhet 1647 Q R 1 CACNA1E:1647:R:Q ENST00000367573;NM_001205293.1 1 181741273 rs775398717 C T gnomAD Exomes PASS NA p.Thr1682Ile p.Thr1682Ile c.5045C>T missense_variant NA 3 1.45529338714685e-05 0 3 0 0 0 0 0 0 CACNA1E constrhet 1682 I T 1 CACNA1E:1682:T:I ENST00000367573;NM_001205293.1 1 181741278 rs373091982 G A gnomAD Exomes PASS NA p.Ala1684Thr p.Ala1684Thr c.5050G>A missense_variant NA 5 2.42558311017969e-05 0 1 0 0 0 4 0 0 CACNA1E constrhet 1684 T A 1 CACNA1E:1684:A:T ENST00000367573;NM_001205293.1 1 181741279 rs146835258 C T gnomAD Exomes PASS NA p.Ala1684Val p.Ala1684Val c.5051C>T missense_variant NA 9 4.36562603077281e-05 0 4 1 0 0 4 0 0 CACNA1E constrhet 1684 V A 1 CACNA1E:1684:A:V ENST00000367573;NM_001205293.1 1 181741296 rs569085430 G A gnomAD Exomes PASS NA p.Glu1690Lys p.Glu1690Lys c.5068G>A missense_variant NA 4 1.94018412347332e-05 0 2 0 0 0 1 0 1 CACNA1E constrhet 1690 K E 1 CACNA1E:1690:E:K ENST00000367573;NM_001205293.1 1 181741300 rs777413804 A G gnomAD Exomes PASS NA p.Asn1691Ser p.Asn1691Ser c.5072A>G missense_variant NA 3 1.45510986079449e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 1691 S N 1 CACNA1E:1691:N:S ENST00000367573;NM_001205293.1 1 181741305 rs745342948 C T gnomAD Exomes PASS NA p.Arg1693Cys p.Arg1693Cys c.5077C>T missense_variant NA 2 9.70101472614035e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1693 C R 1 CACNA1E:1693:R:C ENST00000367573;NM_001205293.1 1 181741306 rs964315512 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1693His p.Arg1693His c.5078G>A missense_variant NA 6 2.63835999542684e-05 0 0 0 0 0 5 0 1 CACNA1E constrhet 1693 H R 1 CACNA1E:1693:R:H ENST00000367573;NM_001205293.1 1 181741317 rs768500940 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Asp1697Asn p.Asp1697Asn c.5089G>A missense_variant NA 2 8.79530682427856e-06 0 1 0 0 0 1 0 0 CACNA1E constrhet 1697 N D 1 CACNA1E:1697:D:N ENST00000367573;NM_001205293.1 1 181741329 rs762078001 G A gnomAD Exomes PASS NA p.Val1701Met p.Val1701Met c.5101G>A missense_variant NA 12 5.82286834494672e-05 1 0 0 0 0 9 0 2 CACNA1E constrhet 1701 M V 1 CACNA1E:1701:V:M ENST00000367573;NM_001205293.1 1 181745336 rs368636412 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1747Ile p.Val1747Ile c.5239G>A missense_variant NA 43 0.000189150669505393 2 4 0 25 1 3 3 5 CACNA1E constrhet 1747 I V 1 CACNA1E:1747:V:I ENST00000367573;NM_001205293.1 1 181745355 rs371470806 G A gnomAD Exomes PASS NA p.Arg1753Gln p.Arg1753Gln c.5258G>A missense_variant NA 3 1.45618344028192e-05 0 1 0 1 0 1 0 0 CACNA1E constrhet 1753 Q R 1 CACNA1E:1753:R:Q ENST00000367573;NM_001205293.1 1 181750567 rs963141863 C T gnomAD Exomes PASS NA p.Arg1758Cys p.Arg1758Cys c.5272C>T missense_variant NA 2 1.13526707157859e-05 0 0 0 1 0 0 0 1 CACNA1E constrhet 1758 C R 1 CACNA1E:1758:R:C ENST00000367573;NM_001205293.1 1 181750574 rs766192834 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.His1760Arg p.His1760Arg c.5279A>G missense_variant NA 2 9.85046986741268e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1760 R H 1 CACNA1E:1760:H:R ENST00000367573;NM_001205293.1 1 181752848 rs373022078 G A gnomAD Exomes PASS NA p.Asp1800Asn p.Asp1800Asn c.5398G>A missense_variant NA 9 4.36829587924089e-05 1 0 0 0 0 8 0 0 CACNA1E constrhet 1800 N D 1 CACNA1E:1800:D:N ENST00000367573;NM_001205293.1 1 181752855 rs750198669 C T gnomAD Exomes PASS NA p.Thr1802Met p.Thr1802Met c.5405C>T missense_variant NA 2 9.70751264403522e-06 0 1 0 0 0 1 0 0 CACNA1E constrhet 1802 M T 1 CACNA1E:1802:T:M ENST00000367573;NM_001205293.1 1 181753850 rs761790010 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1842Val p.Ile1842Val c.5524A>G missense_variant NA 15 7.59509053347916e-05 0 0 0 0 1 5 1 8 CACNA1E constrhet 1842 V I 1 CACNA1E:1842:I:V ENST00000367573;NM_001205293.1 1 181754522 rs557456591 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1883Met p.Val1883Met c.5647G>A missense_variant NA 42 0.000185371537524496 0 1 0 40 0 1 0 0 CACNA1E constrhet 1883 M V 1 CACNA1E:1883:V:M ENST00000367573;NM_001205293.1 1 181754522 rs557456591 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1883Leu p.Val1883Leu c.5647G>C missense_variant NA 2 8.82721607259502e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1883 L V 1 CACNA1E:1883:V:L ENST00000367573;NM_001205293.1 1 181754532 rs575547532 A G gnomAD Exomes PASS NA p.Gln1886Arg p.Gln1886Arg c.5657A>G missense_variant NA 2 9.76829601844254e-06 0 0 0 2 0 0 0 0 CACNA1E constrhet 1886 R Q 1 CACNA1E:1886:Q:R ENST00000367573;NM_001205293.1 1 181754552 rs768172934 C G gnomAD Exomes PASS NA p.Gln1893Glu p.Gln1893Glu c.5677C>G missense_variant NA 2 9.88796930774327e-06 0 0 0 0 0 1 0 1 CACNA1E constrhet 1893 E Q 1 CACNA1E:1893:Q:E ENST00000367573;NM_001205293.1 1 181754870 rs199591744 C T gnomAD Exomes PASS NA p.Arg1901Cys p.Arg1901Cys c.5701C>T missense_variant NA 5 2.43427458617332e-05 0 2 1 0 0 2 0 0 CACNA1E constrhet 1901 C R 1 CACNA1E:1901:R:C ENST00000367573;NM_001205293.1 1 181754871 rs747480727 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1901His p.Arg1901His c.5702G>A missense_variant NA 8 3.52979588955269e-05 0 4 0 0 0 1 1 2 CACNA1E constrhet 1901 H R 1 CACNA1E:1901:R:H ENST00000367573;NM_001205293.1 1 181754879 rs149629433 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1904Thr p.Pro1904Thr c.5710C>A missense_variant NA 549 0.00242337029451232 0 544 0 0 0 0 5 0 CACNA1E constrhet 1904 T P 1 CACNA1E:1904:P:T ENST00000367573;NM_001205293.1 1 181754880 rs191359537 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro1904Leu p.Pro1904Leu c.5711C>T missense_variant NA 52 0.000229525852556123 49 1 0 0 0 2 0 0 CACNA1E constrhet 1904 L P 1 CACNA1E:1904:P:L ENST00000367573;NM_001205293.1 1 181754904 rs771502205 T C gnomAD Exomes PASS NA p.Ile1912Thr p.Ile1912Thr c.5735T>C missense_variant NA 2 9.75238689669297e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 1912 T I 1 CACNA1E:1912:I:T ENST00000367573;NM_001205293.1 1 181754915 rs773162075 A G gnomAD Exomes PASS NA p.Lys1916Glu p.Lys1916Glu c.5746A>G missense_variant NA 2 9.75962054595317e-06 0 0 0 0 0 1 1 0 CACNA1E constrhet 1916 E K 1 CACNA1E:1916:K:E ENST00000367573;NM_001205293.1 1 181754931 rs770750685 T C gnomAD Exomes PASS NA p.Leu1921Pro p.Leu1921Pro c.5762T>C missense_variant NA 11 5.43730784059791e-05 0 11 0 0 0 0 0 0 CACNA1E constrhet 1921 P L 1 CACNA1E:1921:L:P ENST00000367573;NM_001205293.1 1 181754945 rs765549822 G A gnomAD Exomes PASS NA p.Val1926Ile p.Val1926Ile c.5776G>A missense_variant NA 4 1.99706431545628e-05 0 0 0 0 0 1 0 3 CACNA1E constrhet 1926 I V 1 CACNA1E:1926:V:I ENST00000367573;NM_001205293.1 1 181759588 rs776416674 C T gnomAD Exomes PASS NA p.Arg1932Trp p.Arg1932Trp c.5794C>T missense_variant NA 8 3.88470204335328e-05 3 1 0 1 0 3 0 0 CACNA1E constrhet 1932 W R 1 CACNA1E:1932:R:W ENST00000367573;NM_001205293.1 1 181759589 rs759385572 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg1932Gln p.Arg1932Gln c.5795G>A missense_variant NA 10 4.40288124548705e-05 3 1 0 2 0 3 0 1 CACNA1E constrhet 1932 Q R 1 CACNA1E:1932:R:Q ENST00000367573;NM_001205293.1 1 181759606 rs768084651 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met1938Val p.Met1938Val c.5812A>G missense_variant NA 12 5.28071395252638e-05 0 0 0 0 0 12 0 0 CACNA1E constrhet 1938 V M 1 CACNA1E:1938:M:V ENST00000367573;NM_001205293.1 1 181759621 rs549170593 C T gnomAD Exomes PASS NA p.Pro1943Ser p.Pro1943Ser c.5827C>T missense_variant NA 5 2.4264070734619e-05 0 1 0 0 0 4 0 0 CACNA1E constrhet 1943 S P 1 CACNA1E:1943:P:S ENST00000367573;NM_001205293.1 1 181759630 rs567484183 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ile1946Leu p.Ile1946Leu c.5836A>T missense_variant NA 15 6.5989758389498e-05 0 0 0 0 0 0 1 14 CACNA1E constrhet 1946 L I 1 CACNA1E:1946:I:L ENST00000367573;NM_001205293.1 1 181759649 rs756661624 T C gnomAD Exomes PASS NA p.Met1952Thr p.Met1952Thr c.5855T>C missense_variant NA 13 6.30829103543319e-05 0 13 0 0 0 0 0 0 CACNA1E constrhet 1952 T M 1 CACNA1E:1952:M:T ENST00000367573;NM_001205293.1 1 181759652 rs781224815 A C gnomAD Exomes PASS NA p.Asp1953Ala p.Asp1953Ala c.5858A>C missense_variant NA 124 0.000607872934947792 39 13 0 8 8 48 0 8 CACNA1E constrhet 1953 A D 1 CACNA1E:1953:D:A ENST00000367573;NM_001205293.1 1 181759657 rs704326 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala1955Thr p.Ala1955Thr c.5863G>A missense_variant NA 86487 0.380802050035664 2744 10296 3201 5685 7917 47679 2212 6753 CACNA1E constrhet 1955 T A 1 CACNA1E:1955:A:T ENST00000367573;NM_001205293.1 1 181759660 rs1033770342 G A gnomAD Exomes PASS NA p.Asp1956Asn p.Asp1956Asn c.5866G>A missense_variant NA 2 9.70506313143567e-06 0 0 0 0 0 0 0 2 CACNA1E constrhet 1956 N D 1 CACNA1E:1956:D:N ENST00000367573;NM_001205293.1 1 181759666 rs376329789 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly1958Arg p.Gly1958Arg c.5872G>A missense_variant NA 14 6.15893573590484e-05 3 7 0 0 0 2 0 2 CACNA1E constrhet 1958 R G 1 CACNA1E:1958:G:R ENST00000367573;NM_001205293.1 1 181759669 rs761958333 C A gnomAD Exomes PASS NA p.Gln1959Lys p.Gln1959Lys c.5875C>A missense_variant NA 3 1.45574534161491e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 1959 K Q 1 CACNA1E:1959:Q:K ENST00000367573;NM_001205293.1 1 181759681 rs767454901 C T gnomAD Exomes PASS NA p.Arg1963Trp p.Arg1963Trp c.5887C>T missense_variant NA 6 2.91185805662593e-05 0 2 0 0 2 1 0 1 CACNA1E constrhet 1963 W R 1 CACNA1E:1963:R:W ENST00000367573;NM_001205293.1 1 181759682 rs369566269 G A gnomAD Exomes PASS NA p.Arg1963Gln p.Arg1963Gln c.5888G>A missense_variant NA 26 0.000126184190091629 1 0 0 0 0 0 0 25 CACNA1E constrhet 1963 Q R 1 CACNA1E:1963:R:Q ENST00000367573;NM_001205293.1 1 181762810 rs558131870 G A gnomAD Exomes PASS NA p.Val1970Ile p.Val1970Ile c.5908G>A missense_variant NA 35 0.000179485338611912 0 16 1 0 0 7 0 11 CACNA1E constrhet 1970 I V 1 CACNA1E:1970:V:I ENST00000367573;NM_001205293.1 1 181762828 rs547396023 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Val1976Met p.Val1976Met c.5926G>A missense_variant NA 26 0.000119878645924587 7 3 1 10 0 3 0 2 CACNA1E constrhet 1976 M V 1 CACNA1E:1976:V:M ENST00000367573;NM_001205293.1 1 181762834 rs756903198 C T gnomAD Exomes PASS NA p.Pro1978Ser p.Pro1978Ser c.5932C>T missense_variant NA 3 1.5292390506484e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 1978 S P 1 CACNA1E:1978:P:S ENST00000367573;NM_001205293.1 1 181762844 rs767199053 A G gnomAD Exomes PASS NA p.His1981Arg p.His1981Arg c.5942A>G missense_variant NA 2 1.01523873338816e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 1981 R H 1 CACNA1E:1981:H:R ENST00000367573;NM_001205293.1 1 181762862 rs749959606 C T gnomAD Exomes PASS NA p.Ser1987Leu p.Ser1987Leu c.5960C>T missense_variant NA 5 2.5386896299606e-05 0 0 0 2 0 3 0 0 CACNA1E constrhet 1987 L S 1 CACNA1E:1987:S:L ENST00000367573;NM_001205293.1 1 181762868 rs368523919 C A gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr1989Asn p.Thr1989Asn c.5966C>A missense_variant NA 10 4.57485840813227e-05 0 0 0 0 0 10 0 0 CACNA1E constrhet 1989 N T 1 CACNA1E:1989:T:N ENST00000367573;NM_001205293.1 1 181762871 rs1461724797 A G gnomAD Exomes PASS NA p.Gln1990Arg p.Gln1990Arg c.5969A>G missense_variant NA 2 1.01307884792673e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 1990 R Q 1 CACNA1E:1990:Q:R ENST00000367573;NM_001205293.1 1 181762875 rs772249008 G C gnomAD Exomes PASS NA p.Glu1991Asp p.Glu1991Asp c.5973G>C missense_variant NA 13 6.58961881589619e-05 0 9 0 0 0 2 2 0 CACNA1E constrhet 1991 D E 1 CACNA1E:1991:E:D ENST00000367573;NM_001205293.1 1 181762892 rs544113218 G T gnomAD Exomes PASS NA p.Arg1997Met p.Arg1997Met c.5990G>T missense_variant NA 63 0.000319181274698551 0 0 0 0 0 0 2 61 CACNA1E constrhet 1997 M R 1 CACNA1E:1997:R:M ENST00000367573;NM_001205293.1 1 181762892 rs544113218 G A gnomAD Exomes PASS NA p.Arg1997Lys p.Arg1997Lys c.5990G>A missense_variant NA 3 1.51991083189786e-05 0 3 0 0 0 0 0 0 CACNA1E constrhet 1997 K R 1 CACNA1E:1997:R:K ENST00000367573;NM_001205293.1 1 181762909 rs150740651 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2003Cys p.Arg2003Cys c.6007C>T missense_variant NA 14 6.41049122678486e-05 2 10 0 0 0 1 1 0 CACNA1E constrhet 2003 C R 1 CACNA1E:2003:R:C ENST00000367573;NM_001205293.1 1 181762910 rs189129701 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2003His p.Arg2003His c.6008G>A missense_variant NA 263 0.00120480823850622 237 10 0 1 0 12 2 1 CACNA1E constrhet 2003 H R 1 CACNA1E:2003:R:H ENST00000367573;NM_001205293.1 1 181764007 rs376772306 C G gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2012Arg p.Thr2012Arg c.6035C>G missense_variant NA 10 4.45791726105563e-05 0 0 0 0 0 10 0 0 CACNA1E constrhet 2012 R T 1 CACNA1E:2012:T:R ENST00000367573;NM_001205293.1 1 181764011 rs1292174239 C A gnomAD Exomes PASS NA p.Asp2013Glu p.Asp2013Glu c.6039C>A missense_variant NA 2 9.75781112780781e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2013 E D 1 CACNA1E:2013:D:E ENST00000367573;NM_001205293.1 1 181764027 rs1259782913 C T gnomAD Exomes PASS NA p.Arg2019Cys p.Arg2019Cys c.6055C>T missense_variant NA 3 1.45854806402054e-05 0 0 0 0 3 0 0 0 CACNA1E constrhet 2019 C R 1 CACNA1E:2019:R:C ENST00000367573;NM_001205293.1 1 181764028 rs775309185 G A gnomAD Exomes PASS NA p.Arg2019His p.Arg2019His c.6056G>A missense_variant NA 5 2.43107891282151e-05 0 4 0 0 0 1 0 0 CACNA1E constrhet 2019 H R 1 CACNA1E:2019:R:H ENST00000367573;NM_001205293.1 1 181764039 rs762994535 A T gnomAD Exomes PASS NA p.Thr2023Ser p.Thr2023Ser c.6067A>T missense_variant NA 2 9.71571808872394e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2023 S T 1 CACNA1E:2023:T:S ENST00000367573;NM_001205293.1 1 181764046 rs764017933 G A gnomAD Exomes PASS NA p.Arg2025Gln p.Arg2025Gln c.6074G>A missense_variant NA 3 1.45667838483501e-05 0 1 0 0 0 1 0 1 CACNA1E constrhet 2025 Q R 1 CACNA1E:2025:R:Q ENST00000367573;NM_001205293.1 1 181764067 rs1049589906 C T gnomAD Exomes PASS NA p.Ser2032Leu p.Ser2032Leu c.6095C>T missense_variant NA 2 9.70751264403522e-06 1 0 0 0 0 1 0 0 CACNA1E constrhet 2032 L S 1 CACNA1E:2032:S:L ENST00000367573;NM_001205293.1 1 181764088 rs376416157 T C gnomAD Exomes PASS NA p.Met2039Thr p.Met2039Thr c.6116T>C missense_variant NA 2 9.70525151159292e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2039 T M 1 CACNA1E:2039:M:T ENST00000367573;NM_001205293.1 1 181764094 rs748537145 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2041Gln p.Arg2041Gln c.6122G>A missense_variant NA 7 3.07954915400385e-05 0 1 0 0 0 5 0 1 CACNA1E constrhet 2041 Q R 1 CACNA1E:2041:R:Q ENST00000367573;NM_001205293.1 1 181764114 rs776451660 A C gnomAD Exomes PASS NA p.Lys2048Gln p.Lys2048Gln c.6142A>C missense_variant NA 2 9.70600510535868e-06 0 0 0 0 0 0 0 2 CACNA1E constrhet 2048 Q K 1 CACNA1E:2048:K:Q ENST00000367573;NM_001205293.1 1 181764123 rs762359465 C T gnomAD Exomes PASS NA p.Arg2051Cys p.Arg2051Cys c.6151C>T missense_variant NA 2 9.70581669594588e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2051 C R 1 CACNA1E:2051:R:C ENST00000367573;NM_001205293.1 1 181764126 rs768597410 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2052Trp p.Arg2052Trp c.6154C>T missense_variant NA 3 1.3197835554969e-05 0 0 0 0 0 2 0 1 CACNA1E constrhet 2052 W R 1 CACNA1E:2052:R:W ENST00000367573;NM_001205293.1 1 181764127 rs192353760 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2052Gln p.Arg2052Gln c.6155G>A missense_variant NA 10 4.39997536013798e-05 0 0 0 0 6 2 0 2 CACNA1E constrhet 2052 Q R 1 CACNA1E:2052:R:Q ENST00000367573;NM_001205293.1 1 181764148 rs373484172 G A gnomAD Exomes PASS NA p.Arg2059Gln p.Arg2059Gln c.6176G>A missense_variant NA 2 9.71081201810095e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2059 Q R 1 CACNA1E:2059:R:Q ENST00000367573;NM_001205293.1 1 181764159 rs754004543 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.His2063Tyr p.His2063Tyr c.6187C>T missense_variant NA 5 2.20157632865131e-05 0 0 0 0 0 5 0 0 CACNA1E constrhet 2063 Y H 1 CACNA1E:2063:H:Y ENST00000367573;NM_001205293.1 1 181764163 rs779562850 G A gnomAD Exomes PASS NA p.Arg2064His p.Arg2064His c.6191G>A missense_variant NA 3 1.45907300228588e-05 0 1 0 0 0 2 0 0 CACNA1E constrhet 2064 H R 1 CACNA1E:2064:R:H ENST00000367573;NM_001205293.1 1 181765822 rs760371226 A T gnomAD Exomes,gnomAD Genomes PASS PASS p.His2076Leu p.His2076Leu c.6227A>T missense_variant NA 12 5.38749562265981e-05 0 0 0 10 0 0 0 2 CACNA1E constrhet 2076 L H 1 CACNA1E:2076:H:L ENST00000367573;NM_001205293.1 1 181765824 rs370905391 C T gnomAD Exomes PASS NA p.Arg2077Cys p.Arg2077Cys c.6229C>T missense_variant NA 12 5.95539409820445e-05 0 1 0 1 0 5 0 5 CACNA1E constrhet 2077 C R 1 CACNA1E:2077:R:C ENST00000367573;NM_001205293.1 1 181765825 rs759720068 G A gnomAD Exomes PASS NA p.Arg2077His p.Arg2077His c.6230G>A missense_variant NA 7 3.46304926434939e-05 0 1 1 0 0 4 1 0 CACNA1E constrhet 2077 H R 1 CACNA1E:2077:R:H ENST00000367573;NM_001205293.1 1 181765831 rs765358070 G A gnomAD Exomes PASS NA p.Gly2079Glu p.Gly2079Glu c.6236G>A missense_variant NA 2 9.84804467073063e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2079 E G 1 CACNA1E:2079:G:E ENST00000367573;NM_001205293.1 1 181765861 rs779786799 G A gnomAD Exomes PASS NA p.Arg2089Gln p.Arg2089Gln c.6266G>A missense_variant NA 2 9.74592376738429e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2089 Q R 1 CACNA1E:2089:R:Q ENST00000367573;NM_001205293.1 1 181765920 rs201622587 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2109Pro p.Ala2109Pro c.6325G>C missense_variant NA 42 0.000187911055433761 0 0 0 0 0 24 0 18 CACNA1E constrhet 2109 P A 1 CACNA1E:2109:A:P ENST00000367573;NM_001205293.1 1 181765941 rs765523959 C T gnomAD Exomes PASS NA p.Arg2116Cys p.Arg2116Cys c.6346C>T missense_variant NA 8 4.01683051987829e-05 0 4 0 0 0 4 0 0 CACNA1E constrhet 2116 C R 1 CACNA1E:2116:R:C ENST00000367573;NM_001205293.1 1 181765942 rs372520364 G A gnomAD Exomes PASS NA p.Arg2116His p.Arg2116His c.6347G>A missense_variant NA 191 0.000960725926522072 0 0 0 0 0 4 4 183 CACNA1E constrhet 2116 H R 1 CACNA1E:2116:R:H ENST00000367573;NM_001205293.1 1 181765944 rs751935827 C T gnomAD Exomes PASS NA p.Arg2117Cys p.Arg2117Cys c.6349C>T missense_variant NA 3 1.50622069145571e-05 0 1 0 1 0 1 0 0 CACNA1E constrhet 2117 C R 1 CACNA1E:2117:R:C ENST00000367573;NM_001205293.1 1 181765945 rs376695821 G A gnomAD Exomes PASS NA p.Arg2117His p.Arg2117His c.6350G>A missense_variant NA 66 0.000333687244046716 0 2 17 3 0 7 2 35 CACNA1E constrhet 2117 H R 1 CACNA1E:2117:R:H ENST00000367573;NM_001205293.1 1 181765953 rs757667329 A G gnomAD Exomes PASS NA p.Arg2120Gly p.Arg2120Gly c.6358A>G missense_variant NA 2 1.01292492200478e-05 0 1 0 0 0 1 0 0 CACNA1E constrhet 2120 G R 1 CACNA1E:2120:R:G ENST00000367573;NM_001205293.1 1 181765954 rs200113695 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2120Lys p.Arg2120Lys c.6359G>A missense_variant NA 140 0.000639777722939687 2 16 2 0 1 43 9 67 CACNA1E constrhet 2120 K R 1 CACNA1E:2120:R:K ENST00000367573;NM_001205293.1 1 181765981 rs372939707 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2129Met p.Thr2129Met c.6386C>T missense_variant NA 9 4.34925482767286e-05 3 0 0 0 1 3 0 2 CACNA1E constrhet 2129 M T 1 CACNA1E:2129:T:M ENST00000367573;NM_001205293.1 1 181767446 rs750847643 G A gnomAD Exomes PASS NA p.Glu2140Lys p.Glu2140Lys c.6418G>A missense_variant NA 2 1.00945862733816e-05 0 0 0 0 0 0 0 2 CACNA1E constrhet 2140 K E 1 CACNA1E:2140:E:K ENST00000367573;NM_001205293.1 1 181767456 rs369522939 T A gnomAD Exomes PASS NA p.Ile2143Asn p.Ile2143Asn c.6428T>A missense_variant NA 4 1.99972003919451e-05 4 0 0 0 0 0 0 0 CACNA1E constrhet 2143 N I 1 CACNA1E:2143:I:N ENST00000367573;NM_001205293.1 1 181767462 rs189356042 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ser2145Phe p.Ser2145Phe c.6434C>T missense_variant NA 3 1.34935770573207e-05 3 0 0 0 0 0 0 0 CACNA1E constrhet 2145 F S 1 CACNA1E:2145:S:F ENST00000367573;NM_001205293.1 1 181767468 rs777197271 C G gnomAD Exomes PASS NA p.Ser2147Cys p.Ser2147Cys c.6440C>G missense_variant NA 3 1.48445772759211e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 2147 C S 1 CACNA1E:2147:S:C ENST00000367573;NM_001205293.1 1 181767494 rs528317539 C A gnomAD Exomes PASS NA p.Arg2156Ser p.Arg2156Ser c.6466C>A missense_variant NA 17 8.32280742981915e-05 0 0 0 0 0 0 0 17 CACNA1E constrhet 2156 S R 1 CACNA1E:2156:R:S ENST00000367573;NM_001205293.1 1 181767495 rs373527839 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2156His p.Arg2156His c.6467G>A missense_variant NA 6 2.65860813002366e-05 0 0 0 0 0 5 0 1 CACNA1E constrhet 2156 H R 1 CACNA1E:2156:R:H ENST00000367573;NM_001205293.1 1 181767497 rs749525291 C T gnomAD Exomes PASS NA p.Arg2157Trp p.Arg2157Trp c.6469C>T missense_variant NA 3 1.46684920790143e-05 1 0 0 0 1 1 0 0 CACNA1E constrhet 2157 W R 1 CACNA1E:2157:R:W ENST00000367573;NM_001205293.1 1 181767498 rs2480373 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2157Gln p.Arg2157Gln c.6470G>A missense_variant NA 111 0.00049136786188579 4 10 0 0 2 86 3 6 CACNA1E constrhet 2157 Q R 1 CACNA1E:2157:R:Q ENST00000367573;NM_001205293.1 1 181767512 rs373618053 G A gnomAD Exomes PASS NA p.Val2162Ile p.Val2162Ile c.6484G>A missense_variant NA 22 0.000107205161441227 5 0 0 2 0 2 0 13 CACNA1E constrhet 2162 I V 1 CACNA1E:2162:V:I ENST00000367573;NM_001205293.1 1 181767516 rs761056113 C T gnomAD Exomes PASS NA p.Pro2163Leu p.Pro2163Leu c.6488C>T missense_variant NA 6 2.92238154613466e-05 0 5 0 0 1 0 0 0 CACNA1E constrhet 2163 L P 1 CACNA1E:2163:P:L ENST00000367573;NM_001205293.1 1 181767524 rs762551756 C T gnomAD Exomes PASS NA p.Pro2166Ser p.Pro2166Ser c.6496C>T missense_variant NA 6 2.9198501143608e-05 0 6 0 0 0 0 0 0 CACNA1E constrhet 2166 S P 1 CACNA1E:2166:P:S ENST00000367573;NM_001205293.1 1 181767528 rs370385055 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2167Gln p.Arg2167Gln c.6500G>A missense_variant NA 15 6.61398991146072e-05 0 3 0 2 0 9 0 1 CACNA1E constrhet 2167 Q R 1 CACNA1E:2167:R:Q ENST00000367573;NM_001205293.1 1 181767543 rs74695054 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Tyr2172Cys p.Tyr2172Cys c.6515A>G missense_variant NA 225 0.000991233093968897 187 26 0 0 0 6 5 1 CACNA1E constrhet 2172 C Y 1 CACNA1E:2172:Y:C ENST00000367573;NM_001205293.1 1 181767558 rs754653742 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2177Gln p.Arg2177Gln c.6530G>A missense_variant NA 10 4.403734366743e-05 1 1 0 0 0 6 2 0 CACNA1E constrhet 2177 Q R 1 CACNA1E:2177:R:Q ENST00000367573;NM_001205293.1 1 181767561 rs1323103339 A T gnomAD Exomes PASS NA p.His2178Leu p.His2178Leu c.6533A>T missense_variant NA 2 9.71269838186445e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2178 L H 1 CACNA1E:2178:H:L ENST00000367573;NM_001205293.1 1 181767563 rs748177305 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2179Thr p.Ala2179Thr c.6535G>A missense_variant NA 6 2.64175200993299e-05 0 0 0 0 0 6 0 0 CACNA1E constrhet 2179 T A 1 CACNA1E:2179:A:T ENST00000367573;NM_001205293.1 1 181767564 rs199885694 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Ala2179Val p.Ala2179Val c.6536C>T missense_variant NA 93 0.000409457139083344 1 18 0 0 0 74 0 0 CACNA1E constrhet 2179 V A 1 CACNA1E:2179:A:V ENST00000367573;NM_001205293.1 1 181767581 rs548645440 C T gnomAD Exomes PASS NA p.Pro2185Ser p.Pro2185Ser c.6553C>T missense_variant NA 3 1.45659351330355e-05 0 0 0 0 0 2 0 1 CACNA1E constrhet 2185 S P 1 CACNA1E:2185:P:S ENST00000367573;NM_001205293.1 1 181767596 rs751185780 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2190Lys p.Glu2190Lys c.6568G>A missense_variant NA 18 7.92351170038561e-05 0 0 0 9 0 1 0 8 CACNA1E constrhet 2190 K E 1 CACNA1E:2190:E:K ENST00000367573;NM_001205293.1 1 181767599 rs367661786 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2191Gln p.Glu2191Gln c.6571G>C missense_variant NA 7 3.08171836616097e-05 7 0 0 0 0 0 0 0 CACNA1E constrhet 2191 Q E 1 CACNA1E:2191:E:Q ENST00000367573;NM_001205293.1 1 181767631 rs1317052053 G T gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2201Asp p.Glu2201Asp c.6603G>T missense_variant NA 2 8.80366936939316e-06 0 0 0 1 1 0 0 0 CACNA1E constrhet 2201 D E 1 CACNA1E:2201:E:D ENST00000367573;NM_001205293.1 1 181767636 rs758593393 A G gnomAD Exomes PASS NA p.Asn2203Ser p.Asn2203Ser c.6608A>G missense_variant NA 4 1.94240761423785e-05 0 4 0 0 0 0 0 0 CACNA1E constrhet 2203 S N 1 CACNA1E:2203:N:S ENST00000367573;NM_001205293.1 1 181767638 rs777870704 A T gnomAD Exomes PASS NA p.Asn2204Tyr p.Asn2204Tyr c.6610A>T missense_variant NA 2 9.712415380581e-06 0 0 0 2 0 0 0 0 CACNA1E constrhet 2204 Y N 1 CACNA1E:2204:N:Y ENST00000367573;NM_001205293.1 1 181767638 rs777870704 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Asn2204Asp p.Asn2204Asp c.6610A>G missense_variant NA 3 1.32064341747299e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 2204 D N 1 CACNA1E:2204:N:D ENST00000367573;NM_001205293.1 1 181767639 rs923912118 A G gnomAD Exomes PASS NA p.Asn2204Ser p.Asn2204Ser c.6611A>G missense_variant NA 2 9.71279271929058e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2204 S N 1 CACNA1E:2204:N:S ENST00000367573;NM_001205293.1 1 181767651 rs1175759822 C T gnomAD Exomes PASS NA p.Thr2208Ile p.Thr2208Ile c.6623C>T missense_variant NA 3 1.45737187272286e-05 0 2 0 0 0 0 1 0 CACNA1E constrhet 2208 I T 1 CACNA1E:2208:T:I ENST00000367573;NM_001205293.1 1 181767653 rs201030442 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2209Lys p.Glu2209Lys c.6625G>A missense_variant NA 15 6.60542701883868e-05 1 0 0 0 4 10 0 0 CACNA1E constrhet 2209 K E 1 CACNA1E:2209:E:K ENST00000367573;NM_001205293.1 1 181767666 rs761599460 C G gnomAD Exomes PASS NA p.Ser2213Cys p.Ser2213Cys c.6638C>G missense_variant NA 2 9.7183618729227e-06 0 0 0 2 0 0 0 0 CACNA1E constrhet 2213 C S 1 CACNA1E:2213:S:C ENST00000367573;NM_001205293.1 1 181767669 rs767278261 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2214Leu p.Pro2214Leu c.6641C>T missense_variant NA 3 1.32151604320476e-05 0 1 0 0 0 2 0 0 CACNA1E constrhet 2214 L P 1 CACNA1E:2214:P:L ENST00000367573;NM_001205293.1 1 181767704 rs746785304 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2226Cys p.Arg2226Cys c.6676C>T missense_variant NA 5 2.20441058469786e-05 0 2 0 0 0 3 0 0 CACNA1E constrhet 2226 C R 1 CACNA1E:2226:R:C ENST00000367573;NM_001205293.1 1 181767705 rs758685371 G A gnomAD Exomes PASS NA p.Arg2226His p.Arg2226His c.6677G>A missense_variant NA 3 1.45941370486763e-05 0 0 1 0 1 0 1 0 CACNA1E constrhet 2226 H R 1 CACNA1E:2226:R:H ENST00000367573;NM_001205293.1 1 181767732 rs1191760603 T C gnomAD Exomes PASS NA p.Leu2235Pro p.Leu2235Pro c.6704T>C missense_variant NA 2 9.74411942392766e-06 0 0 0 2 0 0 0 0 CACNA1E constrhet 2235 P L 1 CACNA1E:2235:L:P ENST00000367573;NM_001205293.1 1 181767735 rs781574328 A G gnomAD Exomes PASS NA p.His2236Arg p.His2236Arg c.6707A>G missense_variant NA 4 1.94891883727502e-05 0 4 0 0 0 0 0 0 CACNA1E constrhet 2236 R H 1 CACNA1E:2236:H:R ENST00000367573;NM_001205293.1 1 181767749 rs202118773 G A gnomAD Exomes PASS NA p.Ala2241Thr p.Ala2241Thr c.6721G>A missense_variant NA 97 0.000473341596478729 9 1 0 2 0 0 2 83 CACNA1E constrhet 2241 T A 1 CACNA1E:2241:A:T ENST00000367573;NM_001205293.1 1 181767750 rs771867476 C A gnomAD Exomes PASS NA p.Ala2241Asp p.Ala2241Asp c.6722C>A missense_variant NA 3 1.46317196172342e-05 0 0 0 0 0 3 0 0 CACNA1E constrhet 2241 D A 1 CACNA1E:2241:A:D ENST00000367573;NM_001205293.1 1 181767789 rs765080904 C T gnomAD Exomes PASS NA p.Ala2254Val p.Ala2254Val c.6761C>T missense_variant NA 2 9.82414775518224e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2254 V A 1 CACNA1E:2254:A:V ENST00000367573;NM_001205293.1 1 181767794 rs542899440 G A gnomAD Exomes PASS NA p.Val2256Met p.Val2256Met c.6766G>A missense_variant NA 6 2.95464618111981e-05 1 0 0 1 0 2 0 2 CACNA1E constrhet 2256 M V 1 CACNA1E:2256:V:M ENST00000367573;NM_001205293.1 1 181767812 rs751733559 C T gnomAD Exomes PASS NA p.Arg2262Cys p.Arg2262Cys c.6784C>T missense_variant NA 2 9.86339202051586e-06 0 2 0 0 0 0 0 0 CACNA1E constrhet 2262 C R 1 CACNA1E:2262:R:C ENST00000367573;NM_001205293.1 1 181767813 rs370396474 G T gnomAD Exomes PASS NA p.Arg2262Leu p.Arg2262Leu c.6785G>T missense_variant NA 2 9.87664075694575e-06 0 0 0 0 0 2 0 0 CACNA1E constrhet 2262 L R 1 CACNA1E:2262:R:L ENST00000367573;NM_001205293.1 1 181767813 rs370396474 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2262His p.Arg2262His c.6785G>A missense_variant NA 13 5.80974428187092e-05 1 1 1 0 0 10 0 0 CACNA1E constrhet 2262 H R 1 CACNA1E:2262:R:H ENST00000367573;NM_001205293.1 1 181767845 rs1047211592 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2273Trp p.Arg2273Trp c.6817C>T missense_variant NA 2 8.97247245450956e-06 0 0 0 0 0 1 0 1 CACNA1E constrhet 2273 W R 1 CACNA1E:2273:R:W ENST00000367573;NM_001205293.1 1 181767860 rs200469194 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met2278Val p.Met2278Val c.6832A>G missense_variant NA 136 0.000608615489264202 4 2 0 0 2 107 3 18 CACNA1E constrhet 2278 V M 1 CACNA1E:2278:M:V ENST00000367573;NM_001205293.1 1 181767869 rs746705934 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Gly2281Arg p.Gly2281Arg c.6841G>A missense_variant NA 5 2.25012375680662e-05 0 0 0 0 0 5 0 0 CACNA1E constrhet 2281 R G 1 CACNA1E:2281:G:R ENST00000367573;NM_001205293.1 1 181767878 rs770456006 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2284Trp p.Arg2284Trp c.6850C>T missense_variant NA 4 1.81517852280772e-05 1 0 0 0 0 3 0 0 CACNA1E constrhet 2284 W R 1 CACNA1E:2284:R:W ENST00000367573;NM_001205293.1 1 181767879 rs758954362 G A gnomAD Exomes PASS NA p.Arg2284Gln p.Arg2284Gln c.6851G>A missense_variant NA 2 1.0105195080791e-05 0 0 0 1 0 1 0 0 CACNA1E constrhet 2284 Q R 1 CACNA1E:2284:R:Q ENST00000367573;NM_001205293.1 1 181767881 rs769784112 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2285Trp p.Arg2285Trp c.6853C>T missense_variant NA 4 1.82545042989358e-05 0 2 0 0 0 1 0 1 CACNA1E constrhet 2285 W R 1 CACNA1E:2285:R:W ENST00000367573;NM_001205293.1 1 181767882 rs775338609 G A gnomAD Exomes PASS NA p.Arg2285Gln p.Arg2285Gln c.6854G>A missense_variant NA 5 2.51807981305775e-05 2 0 0 0 0 0 0 3 CACNA1E constrhet 2285 Q R 1 CACNA1E:2285:R:Q ENST00000367573;NM_001205293.1 1 181767884 rs762766720 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2286Trp p.Arg2286Trp c.6856C>T missense_variant NA 8 3.66495024830038e-05 0 1 0 0 0 6 0 1 CACNA1E constrhet 2286 W R 1 CACNA1E:2286:R:W ENST00000367573;NM_001205293.1 1 181767885 rs749565023 G A gnomAD Exomes,gnomAD Genomes PASS PASS p.Arg2286Gln p.Arg2286Gln c.6857G>A missense_variant NA 15 6.88218614937097e-05 2 2 1 1 0 8 1 0 CACNA1E constrhet 2286 Q R 1 CACNA1E:2286:R:Q ENST00000367573;NM_001205293.1 1 181767891 rs764706217 G A gnomAD Exomes PASS NA p.Arg2288His p.Arg2288His c.6863G>A missense_variant NA 10 5.09829513010849e-05 2 0 0 0 0 7 0 1 CACNA1E constrhet 2288 H R 1 CACNA1E:2288:R:H ENST00000367573;NM_001205293.1 1 181767897 rs756086125 G C gnomAD Exomes PASS NA p.Gly2290Ala p.Gly2290Ala c.6869G>C missense_variant NA 2 1.02756969491456e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 2290 A G 1 CACNA1E:2290:G:A ENST00000367573;NM_001205293.1 1 181767906 rs750079172 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Pro2293Leu p.Pro2293Leu c.6878C>T missense_variant NA 5 2.35804565176382e-05 1 0 0 0 0 4 0 0 CACNA1E constrhet 2293 L P 1 CACNA1E:2293:P:L ENST00000367573;NM_001205293.1 1 181767911 rs377536482 A T gnomAD Exomes PASS NA p.Met2295Leu p.Met2295Leu c.6883A>T missense_variant NA 2 1.06341121048098e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 2295 L M 1 CACNA1E:2295:M:L ENST00000367573;NM_001205293.1 1 181767911 rs377536482 A G gnomAD Exomes,gnomAD Genomes PASS PASS p.Met2295Val p.Met2295Val c.6883A>G missense_variant NA 2 9.55420098217186e-06 0 0 0 0 0 1 1 0 CACNA1E constrhet 2295 V M 1 CACNA1E:2295:M:V ENST00000367573;NM_001205293.1 1 181767916 rs540012833 G A gnomAD Exomes PASS NA p.Met2296Ile p.Met2296Ile c.6888G>A missense_variant NA 3 1.68302945301543e-05 0 0 0 0 0 0 0 3 CACNA1E constrhet 2296 I M 1 CACNA1E:2296:M:I ENST00000367573;NM_001205293.1 1 181767934 rs1342464777 C A gnomAD Exomes PASS NA p.Asn2302Lys p.Asn2302Lys c.6906C>A missense_variant NA 2 1.20691319880274e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 2302 K N 1 CACNA1E:2302:N:K ENST00000367573;NM_001205293.1 1 181767948 rs564755599 C T gnomAD Exomes,gnomAD Genomes PASS PASS p.Thr2307Met p.Thr2307Met c.6920C>T missense_variant NA 14 8.11904844752195e-05 5 0 0 0 1 8 0 0 CACNA1E constrhet 2307 M T 1 CACNA1E:2307:T:M ENST00000367573;NM_001205293.1 1 181767950 rs769144197 G C gnomAD Exomes,gnomAD Genomes PASS PASS p.Glu2308Gln p.Glu2308Gln c.6922G>C missense_variant NA 13 7.60874654679964e-05 0 0 0 13 0 0 0 0 CACNA1E constrhet 2308 Q E 1 CACNA1E:2308:E:Q ENST00000367573;NM_001205293.1 1 181767960 rs762920383 A G gnomAD Exomes PASS NA p.Asp2311Gly p.Asp2311Gly c.6932A>G missense_variant NA 2 1.37801785911145e-05 0 0 0 0 0 2 0 0 CACNA1E constrhet 2311 G D 1 CACNA1E:2311:D:G ENST00000367573;NM_001205293.1