Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1208106C>ACA394172022CACNA1Hc.3248C>A (p.Thr1083Lys)
c.3209C>A (p.Thr1070Lys)
c.*2695C>A (n.*2695C>A)
c.2468C>A (p.Thr823Lys)
c.*1161C>A (n.*1161C>A)
c.2702C>A (p.Thr901Lys)
c.299C>A (p.Thr100Lys)
c.3267C>A (p.His1089Gln)
n.3350C>A
n.3346C>A
 gnomAD v4
16g.1208106C=CA2201517639CACNA1Hc.3248C= (p.Thr1083=)
c.3209C= (p.Thr1070=)
c.*2695C= (n.*2695C=)
c.2468C= (p.Thr823=)
c.*1161C= (n.*1161C=)
c.2702C= (p.Thr901=)
c.299C= (p.Thr100=)
c.3267C= (p.His1089=)
n.3350C=
n.3346C=
16g.1208106C>GCA394172023CACNA1Hc.3248C>G (p.Thr1083Arg)
c.3209C>G (p.Thr1070Arg)
c.*2695C>G (n.*2695C>G)
c.2468C>G (p.Thr823Arg)
c.*1161C>G (n.*1161C>G)
c.2702C>G (p.Thr901Arg)
c.299C>G (p.Thr100Arg)
c.3267C>G (p.His1089Gln)
n.3350C>G
n.3346C>G
16g.1208106C>TCA16620068CACNA1Hc.3248C>T (p.Thr1083Met)
c.3209C>T (p.Thr1070Met)
c.*2695C>T (n.*2695C>T)
c.2468C>T (p.Thr823Met)
c.*1161C>T (n.*1161C>T)
c.2702C>T (p.Thr901Met)
c.299C>T (p.Thr100Met)
c.3267C>T (p.His1089=)
n.3350C>T
n.3346C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208107G>ACA276661808CACNA1Hc.3249G>A (p.Thr1083=)
c.3210G>A (p.Thr1070=)
c.*2696G>A (n.*2696G>A)
c.2469G>A (p.Thr823=)
c.*1162G>A (n.*1162G>A)
c.2703G>A (p.Thr901=)
c.300G>A (p.Thr100=)
c.3268G>A (p.Ala1090Thr)
n.3351G>A
n.3347G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208107G>CCA492892113CACNA1Hc.3249G>C (p.Thr1083=)
c.3210G>C (p.Thr1070=)
c.*2696G>C (n.*2696G>C)
c.2469G>C (p.Thr823=)
c.*1162G>C (n.*1162G>C)
c.2703G>C (p.Thr901=)
c.300G>C (p.Thr100=)
c.3268G>C (p.Ala1090Pro)
n.3351G>C
n.3347G>C
 dbSNP
16g.1208107G=CA2201517640CACNA1Hc.3249G= (p.Thr1083=)
c.3210G= (p.Thr1070=)
c.*2696G= (n.*2696G=)
c.2469G= (p.Thr823=)
c.*1162G= (n.*1162G=)
c.2703G= (p.Thr901=)
c.300G= (p.Thr100=)
c.3268G= (p.Ala1090=)
n.3351G=
n.3347G=
16g.1208107G>TCA7800695CACNA1Hc.3249G>T (p.Thr1083=)
c.3210G>T (p.Thr1070=)
c.*2696G>T (n.*2696G>T)
c.2469G>T (p.Thr823=)
c.*1162G>T (n.*1162G>T)
c.2703G>T (p.Thr901=)
c.300G>T (p.Thr100=)
c.3268G>T (p.Ala1090Ser)
n.3351G>T
n.3347G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208108C>ACA394172024CACNA1Hc.3250C>A (p.Pro1084Thr)
c.3211C>A (p.Pro1071Thr)
c.*2697C>A (n.*2697C>A)
c.2470C>A (p.Pro824Thr)
c.*1163C>A (n.*1163C>A)
c.2704C>A (p.Pro902Thr)
c.301C>A (p.Pro101Thr)
c.3269C>A (p.Ala1090Asp)
n.3352C>A
n.3348C>A
 gnomAD v4
16g.1208108C>GCA394172025CACNA1Hc.3250C>G (p.Pro1084Ala)
c.3211C>G (p.Pro1071Ala)
c.*2697C>G (n.*2697C>G)
c.2470C>G (p.Pro824Ala)
c.*1163C>G (n.*1163C>G)
c.2704C>G (p.Pro902Ala)
c.301C>G (p.Pro101Ala)
c.3269C>G (p.Ala1090Gly)
n.3352C>G
n.3348C>G
16g.1208108C>TCA394172026CACNA1Hc.3250C>T (p.Pro1084Ser)
c.3211C>T (p.Pro1071Ser)
c.*2697C>T (n.*2697C>T)
c.2470C>T (p.Pro824Ser)
c.*1163C>T (n.*1163C>T)
c.2704C>T (p.Pro902Ser)
c.301C>T (p.Pro101Ser)
c.3269C>T (p.Ala1090Val)
n.3352C>T
n.3348C>T
16g.1208109C>ACA394172028CACNA1Hc.3251C>A (p.Pro1084His)
c.3212C>A (p.Pro1071His)
c.*2698C>A (n.*2698C>A)
c.2471C>A (p.Pro824His)
c.*1164C>A (n.*1164C>A)
c.2705C>A (p.Pro902His)
c.302C>A (p.Pro101His)
c.3270C>A (p.Ala1090=)
n.3353C>A
n.3349C>A
 gnomAD v4
16g.1208109C>GCA394172030CACNA1Hc.3251C>G (p.Pro1084Arg)
c.3212C>G (p.Pro1071Arg)
c.*2698C>G (n.*2698C>G)
c.2471C>G (p.Pro824Arg)
c.*1164C>G (n.*1164C>G)
c.2705C>G (p.Pro902Arg)
c.302C>G (p.Pro101Arg)
c.3270C>G (p.Ala1090=)
n.3353C>G
n.3349C>G
16g.1208109C>TCA394172031CACNA1Hc.3251C>T (p.Pro1084Leu)
c.3212C>T (p.Pro1071Leu)
c.*2698C>T (n.*2698C>T)
c.2471C>T (p.Pro824Leu)
c.*1164C>T (n.*1164C>T)
c.2705C>T (p.Pro902Leu)
c.302C>T (p.Pro101Leu)
c.3270C>T (p.Ala1090=)
n.3353C>T
n.3349C>T
 gnomAD v4
16g.1208110C>ACA492892119CACNA1Hc.3252C>A (p.Pro1084=)
c.3213C>A (p.Pro1071=)
c.*2699C>A (n.*2699C>A)
c.2472C>A (p.Pro824=)
c.*1165C>A (n.*1165C>A)
c.2706C>A (p.Pro902=)
c.303C>A (p.Pro101=)
c.3271C>A (p.His1091Asn)
n.3354C>A
n.3350C>A
 gnomAD v4
16g.1208110C=CA2201517641CACNA1Hc.3252C= (p.Pro1084=)
c.3213C= (p.Pro1071=)
c.*2699C= (n.*2699C=)
c.2472C= (p.Pro824=)
c.*1165C= (n.*1165C=)
c.2706C= (p.Pro902=)
c.303C= (p.Pro101=)
c.3271C= (p.His1091=)
n.3354C=
n.3350C=
16g.1208110C>GCA7800696CACNA1Hc.3252C>G (p.Pro1084=)
c.3213C>G (p.Pro1071=)
c.*2699C>G (n.*2699C>G)
c.2472C>G (p.Pro824=)
c.*1165C>G (n.*1165C>G)
c.2706C>G (p.Pro902=)
c.303C>G (p.Pro101=)
c.3271C>G (p.His1091Asp)
n.3354C>G
n.3350C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208110C>TCA492892121CACNA1Hc.3252C>T (p.Pro1084=)
c.3213C>T (p.Pro1071=)
c.*2699C>T (n.*2699C>T)
c.2472C>T (p.Pro824=)
c.*1165C>T (n.*1165C>T)
c.2706C>T (p.Pro902=)
c.303C>T (p.Pro101=)
c.3271C>T (p.His1091Tyr)
n.3354C>T
n.3350C>T
 dbSNP gnomAD v2 gnomAD v4
16g.1208111A=CA2201517642CACNA1Hc.3253A= (p.Met1085=)
c.3214A= (p.Met1072=)
c.*2700A= (n.*2700A=)
c.2473A= (p.Met825=)
c.*1166A= (n.*1166A=)
c.2707A= (p.Met903=)
c.304A= (p.Met102=)
c.3272A= (p.His1091=)
n.3355A=
n.3351A=
16g.1208111A>CCA276661871CACNA1Hc.3253A>C (p.Met1085Leu)
c.3214A>C (p.Met1072Leu)
c.*2700A>C (n.*2700A>C)
c.2473A>C (p.Met825Leu)
c.*1166A>C (n.*1166A>C)
c.2707A>C (p.Met903Leu)
c.304A>C (p.Met102Leu)
c.3272A>C (p.His1091Pro)
n.3355A>C
n.3351A>C
 dbSNP gnomAD v4
16g.1208111A>GCA394172033CACNA1Hc.3253A>G (p.Met1085Val)
c.3214A>G (p.Met1072Val)
c.*2700A>G (n.*2700A>G)
c.2473A>G (p.Met825Val)
c.*1166A>G (n.*1166A>G)
c.2707A>G (p.Met903Val)
c.304A>G (p.Met102Val)
c.3272A>G (p.His1091Arg)
n.3355A>G
n.3351A>G
 dbSNP gnomAD v2 gnomAD v4
16g.1208111A>TCA394172034CACNA1Hc.3253A>T (p.Met1085Leu)
c.3214A>T (p.Met1072Leu)
c.*2700A>T (n.*2700A>T)
c.2473A>T (p.Met825Leu)
c.*1166A>T (n.*1166A>T)
c.2707A>T (p.Met903Leu)
c.304A>T (p.Met102Leu)
c.3272A>T (p.His1091Leu)
n.3355A>T
n.3351A>T
16g.1208112T>ACA394172036CACNA1Hc.3254T>A (p.Met1085Lys)
c.3215T>A (p.Met1072Lys)
c.*2701T>A (n.*2701T>A)
c.2474T>A (p.Met825Lys)
c.*1167T>A (n.*1167T>A)
c.2708T>A (p.Met903Lys)
c.305T>A (p.Met102Lys)
c.3273T>A (p.His1091Gln)
n.3356T>A
n.3352T>A
16g.1208112T>CCA7800697CACNA1Hc.3254T>C (p.Met1085Thr)
c.3215T>C (p.Met1072Thr)
c.*2701T>C (n.*2701T>C)
c.2474T>C (p.Met825Thr)
c.*1167T>C (n.*1167T>C)
c.2708T>C (p.Met903Thr)
c.305T>C (p.Met102Thr)
c.3273T>C (p.His1091=)
n.3356T>C
n.3352T>C
 dbSNP ExAC gnomAD v2
16g.1208112T>GCA394172038CACNA1Hc.3254T>G (p.Met1085Arg)
c.3215T>G (p.Met1072Arg)
c.*2701T>G (n.*2701T>G)
c.2474T>G (p.Met825Arg)
c.*1167T>G (n.*1167T>G)
c.2708T>G (p.Met903Arg)
c.305T>G (p.Met102Arg)
c.3273T>G (p.His1091Gln)
n.3356T>G
n.3352T>G
16g.1208112T=CA2201517643CACNA1Hc.3254T= (p.Met1085=)
c.3215T= (p.Met1072=)
c.*2701T= (n.*2701T=)
c.2474T= (p.Met825=)
c.*1167T= (n.*1167T=)
c.2708T= (p.Met903=)
c.305T= (p.Met102=)
c.3273T= (p.His1091=)
n.3356T=
n.3352T=
16g.1208113G>ACA394172039CACNA1Hc.3255G>A (p.Met1085Ile)
c.3216G>A (p.Met1072Ile)
c.*2702G>A (n.*2702G>A)
c.2475G>A (p.Met825Ile)
c.*1168G>A (n.*1168G>A)
c.2709G>A (p.Met903Ile)
c.306G>A (p.Met102Ile)
c.3274G>A (p.Ala1092Thr)
n.3357G>A
n.3353G>A
 COSMIC COSMIC COSMIC
16g.1208113G>CCA394172041CACNA1Hc.3255G>C (p.Met1085Ile)
c.3216G>C (p.Met1072Ile)
c.*2702G>C (n.*2702G>C)
c.2475G>C (p.Met825Ile)
c.*1168G>C (n.*1168G>C)
c.2709G>C (p.Met903Ile)
c.306G>C (p.Met102Ile)
c.3274G>C (p.Ala1092Pro)
n.3357G>C
n.3353G>C
16g.1208113G>TCA394172042CACNA1Hc.3255G>T (p.Met1085Ile)
c.3216G>T (p.Met1072Ile)
c.*2702G>T (n.*2702G>T)
c.2475G>T (p.Met825Ile)
c.*1168G>T (n.*1168G>T)
c.2709G>T (p.Met903Ile)
c.306G>T (p.Met102Ile)
c.3274G>T (p.Ala1092Ser)
n.3357G>T
n.3353G>T
16g.1208114C>ACA276661874CACNA1Hc.3256C>A (p.Pro1086Thr)
c.3217C>A (p.Pro1073Thr)
c.*2703C>A (n.*2703C>A)
c.2476C>A (p.Pro826Thr)
c.*1169C>A (n.*1169C>A)
c.2710C>A (p.Pro904Thr)
c.307C>A (p.Pro103Thr)
c.3275C>A (p.Ala1092Asp)
n.3358C>A
n.3354C>A
 dbSNP gnomAD v4
16g.1208114C=CA2201517644CACNA1Hc.3256C= (p.Pro1086=)
c.3217C= (p.Pro1073=)
c.*2703C= (n.*2703C=)
c.2476C= (p.Pro826=)
c.*1169C= (n.*1169C=)
c.2710C= (p.Pro904=)
c.307C= (p.Pro103=)
c.3275C= (p.Ala1092=)
n.3358C=
n.3354C=
16g.1208114C>GCA394172044CACNA1Hc.3256C>G (p.Pro1086Ala)
c.3217C>G (p.Pro1073Ala)
c.*2703C>G (n.*2703C>G)
c.2476C>G (p.Pro826Ala)
c.*1169C>G (n.*1169C>G)
c.2710C>G (p.Pro904Ala)
c.307C>G (p.Pro103Ala)
c.3275C>G (p.Ala1092Gly)
n.3358C>G
n.3354C>G
 gnomAD v4
16g.1208114C>TCA276661877CACNA1Hc.3256C>T (p.Pro1086Ser)
c.3217C>T (p.Pro1073Ser)
c.*2703C>T (n.*2703C>T)
c.2476C>T (p.Pro826Ser)
c.*1169C>T (n.*1169C>T)
c.2710C>T (p.Pro904Ser)
c.307C>T (p.Pro103Ser)
c.3275C>T (p.Ala1092Val)
n.3358C>T
n.3354C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1208115C>ACA394172046CACNA1Hc.3257C>A (p.Pro1086His)
c.3218C>A (p.Pro1073His)
c.*2704C>A (n.*2704C>A)
c.2477C>A (p.Pro826His)
c.*1170C>A (n.*1170C>A)
c.2711C>A (p.Pro904His)
c.308C>A (p.Pro103His)
c.3276C>A (p.Ala1092=)
n.3359C>A
n.3355C>A
 COSMIC COSMIC COSMIC
16g.1208115C=CA2201517645CACNA1Hc.3257C= (p.Pro1086=)
c.3218C= (p.Pro1073=)
c.*2704C= (n.*2704C=)
c.2477C= (p.Pro826=)
c.*1170C= (n.*1170C=)
c.2711C= (p.Pro904=)
c.308C= (p.Pro103=)
c.3276C= (p.Ala1092=)
n.3359C=
n.3355C=
16g.1208115C>GCA394172048CACNA1Hc.3257C>G (p.Pro1086Arg)
c.3218C>G (p.Pro1073Arg)
c.*2704C>G (n.*2704C>G)
c.2477C>G (p.Pro826Arg)
c.*1170C>G (n.*1170C>G)
c.2711C>G (p.Pro904Arg)
c.308C>G (p.Pro103Arg)
c.3276C>G (p.Ala1092=)
n.3359C>G
n.3355C>G
16g.1208115C>TCA394172049CACNA1Hc.3257C>T (p.Pro1086Leu)
c.3218C>T (p.Pro1073Leu)
c.*2704C>T (n.*2704C>T)
c.2477C>T (p.Pro826Leu)
c.*1170C>T (n.*1170C>T)
c.2711C>T (p.Pro904Leu)
c.308C>T (p.Pro103Leu)
c.3276C>T (p.Ala1092=)
n.3359C>T
n.3355C>T
 dbSNP gnomAD v4
16g.1208116T>ACA492892135CACNA1Hc.3258T>A (p.Pro1086=)
c.3219T>A (p.Pro1073=)
c.*2705T>A (n.*2705T>A)
c.2478T>A (p.Pro826=)
c.*1171T>A (n.*1171T>A)
c.2712T>A (p.Pro904=)
c.309T>A (p.Pro103=)
c.3277T>A (p.Tyr1093Asn)
n.3360T>A
n.3356T>A
16g.1208116T>CCA492892136CACNA1Hc.3258T>C (p.Pro1086=)
c.3219T>C (p.Pro1073=)
c.*2705T>C (n.*2705T>C)
c.2478T>C (p.Pro826=)
c.*1171T>C (n.*1171T>C)
c.2712T>C (p.Pro904=)
c.309T>C (p.Pro103=)
c.3277T>C (p.Tyr1093His)
n.3360T>C
n.3356T>C
16g.1208116T>GCA492892137CACNA1Hc.3258T>G (p.Pro1086=)
c.3219T>G (p.Pro1073=)
c.*2705T>G (n.*2705T>G)
c.2478T>G (p.Pro826=)
c.*1171T>G (n.*1171T>G)
c.2712T>G (p.Pro904=)
c.309T>G (p.Pro103=)
c.3277T>G (p.Tyr1093Asp)
n.3360T>G
n.3356T>G
16g.1208117A>CCA394172054CACNA1Hc.3259A>C (p.Thr1087Pro)
c.3220A>C (p.Thr1074Pro)
c.*2706A>C (n.*2706A>C)
c.2479A>C (p.Thr827Pro)
c.*1172A>C (n.*1172A>C)
c.2713A>C (p.Thr905Pro)
c.310A>C (p.Thr104Pro)
c.3278A>C (p.Tyr1093Ser)
n.3361A>C
n.3357A>C
16g.1208117A>GCA394172052CACNA1Hc.3259A>G (p.Thr1087Ala)
c.3220A>G (p.Thr1074Ala)
c.*2706A>G (n.*2706A>G)
c.2479A>G (p.Thr827Ala)
c.*1172A>G (n.*1172A>G)
c.2713A>G (p.Thr905Ala)
c.310A>G (p.Thr104Ala)
c.3278A>G (p.Tyr1093Cys)
n.3361A>G
n.3357A>G
16g.1208117A>TCA394172051CACNA1Hc.3259A>T (p.Thr1087Ser)
c.3220A>T (p.Thr1074Ser)
c.*2706A>T (n.*2706A>T)
c.2479A>T (p.Thr827Ser)
c.*1172A>T (n.*1172A>T)
c.2713A>T (p.Thr905Ser)
c.310A>T (p.Thr104Ser)
c.3278A>T (p.Tyr1093Phe)
n.3361A>T
n.3357A>T
 gnomAD v4
16g.1208118C>ACA394172056CACNA1Hc.3260C>A (p.Thr1087Asn)
c.3221C>A (p.Thr1074Asn)
c.*2707C>A (n.*2707C>A)
c.2480C>A (p.Thr827Asn)
c.*1173C>A (n.*1173C>A)
c.2714C>A (p.Thr905Asn)
c.311C>A (p.Thr104Asn)
c.3279C>A (p.Tyr1093Ter)
n.3362C>A
n.3358C>A
 gnomAD v4
16g.1208118C=CA2201517646CACNA1Hc.3260C= (p.Thr1087=)
c.3221C= (p.Thr1074=)
c.*2707C= (n.*2707C=)
c.2480C= (p.Thr827=)
c.*1173C= (n.*1173C=)
c.2714C= (p.Thr905=)
c.311C= (p.Thr104=)
c.3279C= (p.Tyr1093=)
n.3362C=
n.3358C=
16g.1208118C>GCA394172058CACNA1Hc.3260C>G (p.Thr1087Ser)
c.3221C>G (p.Thr1074Ser)
c.*2707C>G (n.*2707C>G)
c.2480C>G (p.Thr827Ser)
c.*1173C>G (n.*1173C>G)
c.2714C>G (p.Thr905Ser)
c.311C>G (p.Thr104Ser)
c.3279C>G (p.Tyr1093Ter)
n.3362C>G
n.3358C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1208118C>TCA276661878CACNA1Hc.3260C>T (p.Thr1087Ile)
c.3221C>T (p.Thr1074Ile)
c.*2707C>T (n.*2707C>T)
c.2480C>T (p.Thr827Ile)
c.*1173C>T (n.*1173C>T)
c.2714C>T (p.Thr905Ile)
c.311C>T (p.Thr104Ile)
c.3279C>T (p.Tyr1093=)
n.3362C>T
n.3358C>T
 ClinVar dbSNP gnomAD v4
16g.1208122delCA2630927078CACNA1Hc.3264del (p.Lys1089ArgfsTer?)
c.3225del (p.Lys1076ArgfsTer?)
c.*2711del (n.*2711del)
c.2484del (p.Lys829ArgfsTer?)
c.*1177del (n.*1177del)
c.2718del (p.Lys907ArgfsTer?)
c.315del (p.Lys106ArgfsTer?)
c.3283del (p.Gln1095LysfsTer?)
n.3366del
n.3362del
 gnomAD v4
16g.1208119C>ACA7800698CACNA1Hc.3261C>A (p.Thr1087=)
c.3222C>A (p.Thr1074=)
c.*2708C>A (n.*2708C>A)
c.2481C>A (p.Thr827=)
c.*1174C>A (n.*1174C>A)
c.2715C>A (p.Thr905=)
c.312C>A (p.Thr104=)
c.3280C>A (p.Pro1094Thr)
n.3363C>A
n.3359C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208119C=CA2201517647CACNA1Hc.3261C= (p.Thr1087=)
c.3222C= (p.Thr1074=)
c.*2708C= (n.*2708C=)
c.2481C= (p.Thr827=)
c.*1174C= (n.*1174C=)
c.2715C= (p.Thr905=)
c.312C= (p.Thr104=)
c.3280C= (p.Pro1094=)
n.3363C=
n.3359C=
16g.1208119C>GCA492892145CACNA1Hc.3261C>G (p.Thr1087=)
c.3222C>G (p.Thr1074=)
c.*2708C>G (n.*2708C>G)
c.2481C>G (p.Thr827=)
c.*1174C>G (n.*1174C>G)
c.2715C>G (p.Thr905=)
c.312C>G (p.Thr104=)
c.3280C>G (p.Pro1094Ala)
n.3363C>G
n.3359C>G
16g.1208119C>TCA492892146CACNA1Hc.3261C>T (p.Thr1087=)
c.3222C>T (p.Thr1074=)
c.*2708C>T (n.*2708C>T)
c.2481C>T (p.Thr827=)
c.*1174C>T (n.*1174C>T)
c.2715C>T (p.Thr905=)
c.312C>T (p.Thr104=)
c.3280C>T (p.Pro1094Ser)
n.3363C>T
n.3359C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208120C>ACA394172060CACNA1Hc.3262C>A (p.Pro1088Thr)
c.3223C>A (p.Pro1075Thr)
c.*2709C>A (n.*2709C>A)
c.2482C>A (p.Pro828Thr)
c.*1175C>A (n.*1175C>A)
c.2716C>A (p.Pro906Thr)
c.313C>A (p.Pro105Thr)
c.3281C>A (p.Pro1094His)
n.3364C>A
n.3360C>A
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
16g.1208120C=CA2201517648CACNA1Hc.3262C= (p.Pro1088=)
c.3223C= (p.Pro1075=)
c.*2709C= (n.*2709C=)
c.2482C= (p.Pro828=)
c.*1175C= (n.*1175C=)
c.2716C= (p.Pro906=)
c.313C= (p.Pro105=)
c.3281C= (p.Pro1094=)
n.3364C=
n.3360C=
16g.1208120C>GCA394172062CACNA1Hc.3262C>G (p.Pro1088Ala)
c.3223C>G (p.Pro1075Ala)
c.*2709C>G (n.*2709C>G)
c.2482C>G (p.Pro828Ala)
c.*1175C>G (n.*1175C>G)
c.2716C>G (p.Pro906Ala)
c.313C>G (p.Pro105Ala)
c.3281C>G (p.Pro1094Arg)
n.3364C>G
n.3360C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208120C>TCA394172063CACNA1Hc.3262C>T (p.Pro1088Ser)
c.3223C>T (p.Pro1075Ser)
c.*2709C>T (n.*2709C>T)
c.2482C>T (p.Pro828Ser)
c.*1175C>T (n.*1175C>T)
c.2716C>T (p.Pro906Ser)
c.313C>T (p.Pro105Ser)
c.3281C>T (p.Pro1094Leu)
n.3364C>T
n.3360C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208121C>ACA7800700CACNA1Hc.3263C>A (p.Pro1088His)
c.3224C>A (p.Pro1075His)
c.*2710C>A (n.*2710C>A)
c.2483C>A (p.Pro828His)
c.*1176C>A (n.*1176C>A)
c.2717C>A (p.Pro906His)
c.314C>A (p.Pro105His)
c.3282C>A (p.Pro1094=)
n.3365C>A
n.3361C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208121C=CA2201517649CACNA1Hc.3263C= (p.Pro1088=)
c.3224C= (p.Pro1075=)
c.*2710C= (n.*2710C=)
c.2483C= (p.Pro828=)
c.*1176C= (n.*1176C=)
c.2717C= (p.Pro906=)
c.314C= (p.Pro105=)
c.3282C= (p.Pro1094=)
n.3365C=
n.3361C=
16g.1208121C>GCA394172065CACNA1Hc.3263C>G (p.Pro1088Arg)
c.3224C>G (p.Pro1075Arg)
c.*2710C>G (n.*2710C>G)
c.2483C>G (p.Pro828Arg)
c.*1176C>G (n.*1176C>G)
c.2717C>G (p.Pro906Arg)
c.314C>G (p.Pro105Arg)
c.3282C>G (p.Pro1094=)
n.3365C>G
n.3361C>G
 dbSNP gnomAD v4
16g.1208121C>TCA7800699CACNA1Hc.3263C>T (p.Pro1088Leu)
c.3224C>T (p.Pro1075Leu)
c.*2710C>T (n.*2710C>T)
c.2483C>T (p.Pro828Leu)
c.*1176C>T (n.*1176C>T)
c.2717C>T (p.Pro906Leu)
c.314C>T (p.Pro105Leu)
c.3282C>T (p.Pro1094=)
n.3365C>T
n.3361C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208122C>ACA492892154CACNA1Hc.3264C>A (p.Pro1088=)
c.3225C>A (p.Pro1075=)
c.*2711C>A (n.*2711C>A)
c.2484C>A (p.Pro828=)
c.*1177C>A (n.*1177C>A)
c.2718C>A (p.Pro906=)
c.315C>A (p.Pro105=)
c.3283C>A (p.Gln1095Lys)
n.3366C>A
n.3362C>A
 gnomAD v4
16g.1208122C=CA2201517650CACNA1Hc.3264C= (p.Pro1088=)
c.3225C= (p.Pro1075=)
c.*2711C= (n.*2711C=)
c.2484C= (p.Pro828=)
c.*1177C= (n.*1177C=)
c.2718C= (p.Pro906=)
c.315C= (p.Pro105=)
c.3283C= (p.Gln1095=)
n.3366C=
n.3362C=
16g.1208122C>GCA492892156CACNA1Hc.3264C>G (p.Pro1088=)
c.3225C>G (p.Pro1075=)
c.*2711C>G (n.*2711C>G)
c.2484C>G (p.Pro828=)
c.*1177C>G (n.*1177C>G)
c.2718C>G (p.Pro906=)
c.315C>G (p.Pro105=)
c.3283C>G (p.Gln1095Glu)
n.3366C>G
n.3362C>G
 dbSNP
16g.1208122C>TCA492892158CACNA1Hc.3264C>T (p.Pro1088=)
c.3225C>T (p.Pro1075=)
c.*2711C>T (n.*2711C>T)
c.2484C>T (p.Pro828=)
c.*1177C>T (n.*1177C>T)
c.2718C>T (p.Pro906=)
c.315C>T (p.Pro105=)
c.3283C>T (p.Gln1095Ter)
n.3366C>T
n.3362C>T
 dbSNP gnomAD v2 gnomAD v4
16g.1208123A>CCA394172068CACNA1Hc.3265A>C (p.Lys1089Gln)
c.3226A>C (p.Lys1076Gln)
c.*2712A>C (n.*2712A>C)
c.2485A>C (p.Lys829Gln)
c.*1178A>C (n.*1178A>C)
c.2719A>C (p.Lys907Gln)
c.316A>C (p.Lys106Gln)
c.3284A>C (p.Gln1095Pro)
n.3367A>C
n.3363A>C
16g.1208123A>GCA394172070CACNA1Hc.3265A>G (p.Lys1089Glu)
c.3226A>G (p.Lys1076Glu)
c.*2712A>G (n.*2712A>G)
c.2485A>G (p.Lys829Glu)
c.*1178A>G (n.*1178A>G)
c.2719A>G (p.Lys907Glu)
c.316A>G (p.Lys106Glu)
c.3284A>G (p.Gln1095Arg)
n.3367A>G
n.3363A>G
16g.1208123A>TCA394172071CACNA1Hc.3265A>T (p.Lys1089Ter)
c.3226A>T (p.Lys1076Ter)
c.*2712A>T (n.*2712A>T)
c.2485A>T (p.Lys829Ter)
c.*1178A>T (n.*1178A>T)
c.2719A>T (p.Lys907Ter)
c.316A>T (p.Lys106Ter)
c.3284A>T (p.Gln1095Leu)
n.3367A>T
n.3363A>T
16g.1208124A>CCA394172074CACNA1Hc.3266A>C (p.Lys1089Thr)
c.3227A>C (p.Lys1076Thr)
c.*2713A>C (n.*2713A>C)
c.2486A>C (p.Lys829Thr)
c.*1179A>C (n.*1179A>C)
c.2720A>C (p.Lys907Thr)
c.317A>C (p.Lys106Thr)
c.3285A>C (p.Gln1095His)
n.3368A>C
n.3364A>C
 gnomAD v4
16g.1208124A>GCA394172076CACNA1Hc.3266A>G (p.Lys1089Arg)
c.3227A>G (p.Lys1076Arg)
c.*2713A>G (n.*2713A>G)
c.2486A>G (p.Lys829Arg)
c.*1179A>G (n.*1179A>G)
c.2720A>G (p.Lys907Arg)
c.317A>G (p.Lys106Arg)
c.3285A>G (p.Gln1095=)
n.3368A>G
n.3364A>G
 gnomAD v4
16g.1208124A>TCA394172072CACNA1Hc.3266A>T (p.Lys1089Met)
c.3227A>T (p.Lys1076Met)
c.*2713A>T (n.*2713A>T)
c.2486A>T (p.Lys829Met)
c.*1179A>T (n.*1179A>T)
c.2720A>T (p.Lys907Met)
c.317A>T (p.Lys106Met)
c.3285A>T (p.Gln1095His)
n.3368A>T
n.3364A>T
16g.1208125G>ACA492892159CACNA1Hc.3267G>A (p.Lys1089=)
c.3228G>A (p.Lys1076=)
c.*2714G>A (n.*2714G>A)
c.2487G>A (p.Lys829=)
c.*1180G>A (n.*1180G>A)
c.2721G>A (p.Lys907=)
c.318G>A (p.Lys106=)
c.3286G>A (p.Glu1096Lys)
n.3369G>A
n.3365G>A
 dbSNP gnomAD v3 gnomAD v4
16g.1208125G>CCA394172077CACNA1Hc.3267G>C (p.Lys1089Asn)
c.3228G>C (p.Lys1076Asn)
c.*2714G>C (n.*2714G>C)
c.2487G>C (p.Lys829Asn)
c.*1180G>C (n.*1180G>C)
c.2721G>C (p.Lys907Asn)
c.318G>C (p.Lys106Asn)
c.3286G>C (p.Glu1096Gln)
n.3369G>C
n.3365G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208125G=CA2201517651CACNA1Hc.3267G= (p.Lys1089=)
c.3228G= (p.Lys1076=)
c.*2714G= (n.*2714G=)
c.2487G= (p.Lys829=)
c.*1180G= (n.*1180G=)
c.2721G= (p.Lys907=)
c.318G= (p.Lys106=)
c.3286G= (p.Glu1096=)
n.3369G=
n.3365G=
16g.1208125G>TCA394172079CACNA1Hc.3267G>T (p.Lys1089Asn)
c.3228G>T (p.Lys1076Asn)
c.*2714G>T (n.*2714G>T)
c.2487G>T (p.Lys829Asn)
c.*1180G>T (n.*1180G>T)
c.2721G>T (p.Lys907Asn)
c.318G>T (p.Lys106Asn)
c.3286G>T (p.Glu1096Ter)
n.3369G>T
n.3365G>T
16g.1208126A>CCA394172080CACNA1Hc.3268A>C (p.Ser1090Arg)
c.3229A>C (p.Ser1077Arg)
c.*2715A>C (n.*2715A>C)
c.2488A>C (p.Ser830Arg)
c.*1181A>C (n.*1181A>C)
c.2722A>C (p.Ser908Arg)
c.319A>C (p.Ser107Arg)
c.3287A>C (p.Glu1096Ala)
n.3370A>C
n.3366A>C
16g.1208126A>GCA394172082CACNA1Hc.3268A>G (p.Ser1090Gly)
c.3229A>G (p.Ser1077Gly)
c.*2715A>G (n.*2715A>G)
c.2488A>G (p.Ser830Gly)
c.*1181A>G (n.*1181A>G)
c.2722A>G (p.Ser908Gly)
c.319A>G (p.Ser107Gly)
c.3287A>G (p.Glu1096Gly)
n.3370A>G
n.3366A>G
 gnomAD v4
16g.1208126A>TCA394172084CACNA1Hc.3268A>T (p.Ser1090Cys)
c.3229A>T (p.Ser1077Cys)
c.*2715A>T (n.*2715A>T)
c.2488A>T (p.Ser830Cys)
c.*1181A>T (n.*1181A>T)
c.2722A>T (p.Ser908Cys)
c.319A>T (p.Ser107Cys)
c.3287A>T (p.Glu1096Val)
n.3370A>T
n.3366A>T
16g.1208127G>ACA394172085CACNA1Hc.3269G>A (p.Ser1090Asn)
c.3230G>A (p.Ser1077Asn)
c.*2716G>A (n.*2716G>A)
c.2489G>A (p.Ser830Asn)
c.*1182G>A (n.*1182G>A)
c.2723G>A (p.Ser908Asn)
c.320G>A (p.Ser107Asn)
c.3288G>A (p.Glu1096=)
n.3371G>A
n.3367G>A
16g.1208127G>CCA7800701CACNA1Hc.3269G>C (p.Ser1090Thr)
c.3230G>C (p.Ser1077Thr)
c.*2716G>C (n.*2716G>C)
c.2489G>C (p.Ser830Thr)
c.*1182G>C (n.*1182G>C)
c.2723G>C (p.Ser908Thr)
c.320G>C (p.Ser107Thr)
c.3288G>C (p.Glu1096Asp)
n.3371G>C
n.3367G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208127G=CA2201517652CACNA1Hc.3269G= (p.Ser1090=)
c.3230G= (p.Ser1077=)
c.*2716G= (n.*2716G=)
c.2489G= (p.Ser830=)
c.*1182G= (n.*1182G=)
c.2723G= (p.Ser908=)
c.320G= (p.Ser107=)
c.3288G= (p.Glu1096=)
n.3371G=
n.3367G=
16g.1208127G>TCA394172087CACNA1Hc.3269G>T (p.Ser1090Ile)
c.3230G>T (p.Ser1077Ile)
c.*2716G>T (n.*2716G>T)
c.2489G>T (p.Ser830Ile)
c.*1182G>T (n.*1182G>T)
c.2723G>T (p.Ser908Ile)
c.320G>T (p.Ser107Ile)
c.3288G>T (p.Glu1096Asp)
n.3371G>T
n.3367G>T
16g.1208128C>ACA7800703CACNA1Hc.3270C>A (p.Ser1090Arg)
c.3231C>A (p.Ser1077Arg)
c.*2717C>A (n.*2717C>A)
c.2490C>A (p.Ser830Arg)
c.*1183C>A (n.*1183C>A)
c.2724C>A (p.Ser908Arg)
c.321C>A (p.Ser107Arg)
c.3289C>A (p.Leu1097Ile)
n.3372C>A
n.3368C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208128C=CA2201517653CACNA1Hc.3270C= (p.Ser1090=)
c.3231C= (p.Ser1077=)
c.*2717C= (n.*2717C=)
c.2490C= (p.Ser830=)
c.*1183C= (n.*1183C=)
c.2724C= (p.Ser908=)
c.321C= (p.Ser107=)
c.3289C= (p.Leu1097=)
n.3372C=
n.3368C=
16g.1208128C>GCA394172090CACNA1Hc.3270C>G (p.Ser1090Arg)
c.3231C>G (p.Ser1077Arg)
c.*2717C>G (n.*2717C>G)
c.2490C>G (p.Ser830Arg)
c.*1183C>G (n.*1183C>G)
c.2724C>G (p.Ser908Arg)
c.321C>G (p.Ser107Arg)
c.3289C>G (p.Leu1097Val)
n.3372C>G
n.3368C>G
 gnomAD v4
16g.1208128C>TCA7800702CACNA1Hc.3270C>T (p.Ser1090=)
c.3231C>T (p.Ser1077=)
c.*2717C>T (n.*2717C>T)
c.2490C>T (p.Ser830=)
c.*1183C>T (n.*1183C>T)
c.2724C>T (p.Ser908=)
c.321C>T (p.Ser107=)
c.3289C>T (p.Leu1097Phe)
n.3372C>T
n.3368C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208129T>ACA394172092CACNA1Hc.3271T>A (p.Ser1091Thr)
c.3232T>A (p.Ser1078Thr)
c.*2718T>A (n.*2718T>A)
c.2491T>A (p.Ser831Thr)
c.*1184T>A (n.*1184T>A)
c.2725T>A (p.Ser909Thr)
c.322T>A (p.Ser108Thr)
c.3290T>A (p.Leu1097His)
n.3373T>A
n.3369T>A
16g.1208129T>CCA394172094CACNA1Hc.3271T>C (p.Ser1091Pro)
c.3232T>C (p.Ser1078Pro)
c.*2718T>C (n.*2718T>C)
c.2491T>C (p.Ser831Pro)
c.*1184T>C (n.*1184T>C)
c.2725T>C (p.Ser909Pro)
c.322T>C (p.Ser108Pro)
c.3290T>C (p.Leu1097Pro)
n.3373T>C
n.3369T>C
 dbSNP gnomAD v2 gnomAD v4
16g.1208129T>GCA394172095CACNA1Hc.3271T>G (p.Ser1091Ala)
c.3232T>G (p.Ser1078Ala)
c.*2718T>G (n.*2718T>G)
c.2491T>G (p.Ser831Ala)
c.*1184T>G (n.*1184T>G)
c.2725T>G (p.Ser909Ala)
c.322T>G (p.Ser108Ala)
c.3290T>G (p.Leu1097Arg)
n.3373T>G
n.3369T>G
16g.1208129T=CA2201517654CACNA1Hc.3271T= (p.Ser1091=)
c.3232T= (p.Ser1078=)
c.*2718T= (n.*2718T=)
c.2491T= (p.Ser831=)
c.*1184T= (n.*1184T=)
c.2725T= (p.Ser909=)
c.322T= (p.Ser108=)
c.3290T= (p.Leu1097=)
n.3373T=
n.3369T=
16g.1208130C>ACA394172098CACNA1Hc.3272C>A (p.Ser1091Ter)
c.3233C>A (p.Ser1078Ter)
c.*2719C>A (n.*2719C>A)
c.2492C>A (p.Ser831Ter)
c.*1185C>A (n.*1185C>A)
c.2726C>A (p.Ser909Ter)
c.323C>A (p.Ser108Ter)
c.3291C>A (p.Leu1097=)
n.3374C>A
n.3370C>A
 dbSNP gnomAD v2 gnomAD v4
16g.1208130C=CA2201517655CACNA1Hc.3272C= (p.Ser1091=)
c.3233C= (p.Ser1078=)
c.*2719C= (n.*2719C=)
c.2492C= (p.Ser831=)
c.*1185C= (n.*1185C=)
c.2726C= (p.Ser909=)
c.323C= (p.Ser108=)
c.3291C= (p.Leu1097=)
n.3374C=
n.3370C=
16g.1208130C>GCA394172097CACNA1Hc.3272C>G (p.Ser1091Ter)
c.3233C>G (p.Ser1078Ter)
c.*2719C>G (n.*2719C>G)
c.2492C>G (p.Ser831Ter)
c.*1185C>G (n.*1185C>G)
c.2726C>G (p.Ser909Ter)
c.323C>G (p.Ser108Ter)
c.3291C>G (p.Leu1097=)
n.3374C>G
n.3370C>G
16g.1208130C>TCA394172096CACNA1Hc.3272C>T (p.Ser1091Leu)
c.3233C>T (p.Ser1078Leu)
c.*2719C>T (n.*2719C>T)
c.2492C>T (p.Ser831Leu)
c.*1185C>T (n.*1185C>T)
c.2726C>T (p.Ser909Leu)
c.323C>T (p.Ser108Leu)
c.3291C>T (p.Leu1097=)
n.3374C>T
n.3370C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208131A>CCA492892162CACNA1Hc.3273A>C (p.Ser1091=)
c.3234A>C (p.Ser1078=)
c.*2720A>C (n.*2720A>C)
c.2493A>C (p.Ser831=)
c.*1186A>C (n.*1186A>C)
c.2727A>C (p.Ser909=)
c.324A>C (p.Ser108=)
c.3292A>C (p.Thr1098Pro)
n.3375A>C
n.3371A>C
16g.1208131A>GCA492892164CACNA1Hc.3273A>G (p.Ser1091=)
c.3234A>G (p.Ser1078=)
c.*2720A>G (n.*2720A>G)
c.2493A>G (p.Ser831=)
c.*1186A>G (n.*1186A>G)
c.2727A>G (p.Ser909=)
c.324A>G (p.Ser108=)
c.3292A>G (p.Thr1098Ala)
n.3375A>G
n.3371A>G
16g.1208131A>TCA492892165CACNA1Hc.3273A>T (p.Ser1091=)
c.3234A>T (p.Ser1078=)
c.*2720A>T (n.*2720A>T)
c.2493A>T (p.Ser831=)
c.*1186A>T (n.*1186A>T)
c.2727A>T (p.Ser909=)
c.324A>T (p.Ser108=)
c.3292A>T (p.Thr1098Ser)
n.3375A>T
n.3371A>T
16g.1208132C>ACA394172100CACNA1Hc.3274C>A (p.Pro1092Thr)
c.3235C>A (p.Pro1079Thr)
c.*2721C>A (n.*2721C>A)
c.2494C>A (p.Pro832Thr)
c.*1187C>A (n.*1187C>A)
c.2728C>A (p.Pro910Thr)
c.325C>A (p.Pro109Thr)
c.3293C>A (p.Thr1098Asn)
n.3376C>A
n.3372C>A
16g.1208132C=CA2201517656CACNA1Hc.3274C= (p.Pro1092=)
c.3235C= (p.Pro1079=)
c.*2721C= (n.*2721C=)
c.2494C= (p.Pro832=)
c.*1187C= (n.*1187C=)
c.2728C= (p.Pro910=)
c.325C= (p.Pro109=)
c.3293C= (p.Thr1098=)
n.3376C=
n.3372C=
16g.1208132C>GCA394172101CACNA1Hc.3274C>G (p.Pro1092Ala)
c.3235C>G (p.Pro1079Ala)
c.*2721C>G (n.*2721C>G)
c.2494C>G (p.Pro832Ala)
c.*1187C>G (n.*1187C>G)
c.2728C>G (p.Pro910Ala)
c.325C>G (p.Pro109Ala)
c.3293C>G (p.Thr1098Ser)
n.3376C>G
n.3372C>G
 dbSNP gnomAD v2
16g.1208132C>TCA394172103CACNA1Hc.3274C>T (p.Pro1092Ser)
c.3235C>T (p.Pro1079Ser)
c.*2721C>T (n.*2721C>T)
c.2494C>T (p.Pro832Ser)
c.*1187C>T (n.*1187C>T)
c.2728C>T (p.Pro910Ser)
c.325C>T (p.Pro109Ser)
c.3293C>T (p.Thr1098Ile)
n.3376C>T
n.3372C>T
 gnomAD v4
16g.1208133C>ACA394172104CACNA1Hc.3275C>A (p.Pro1092Gln)
c.3236C>A (p.Pro1079Gln)
c.*2722C>A (n.*2722C>A)
c.2495C>A (p.Pro832Gln)
c.*1188C>A (n.*1188C>A)
c.2729C>A (p.Pro910Gln)
c.326C>A (p.Pro109Gln)
c.3294C>A (p.Thr1098=)
n.3377C>A
n.3373C>A
 gnomAD v4
16g.1208133C>GCA394172106CACNA1Hc.3275C>G (p.Pro1092Arg)
c.3236C>G (p.Pro1079Arg)
c.*2722C>G (n.*2722C>G)
c.2495C>G (p.Pro832Arg)
c.*1188C>G (n.*1188C>G)
c.2729C>G (p.Pro910Arg)
c.326C>G (p.Pro109Arg)
c.3294C>G (p.Thr1098=)
n.3377C>G
n.3373C>G
16g.1208133C>TCA394172108CACNA1Hc.3275C>T (p.Pro1092Leu)
c.3236C>T (p.Pro1079Leu)
c.*2722C>T (n.*2722C>T)
c.2495C>T (p.Pro832Leu)
c.*1188C>T (n.*1188C>T)
c.2729C>T (p.Pro910Leu)
c.326C>T (p.Pro109Leu)
c.3294C>T (p.Thr1098=)
n.3377C>T
n.3373C>T
16g.1208134A=CA2201517657CACNA1Hc.3276A= (p.Pro1092=)
c.3237A= (p.Pro1079=)
c.*2723A= (n.*2723A=)
c.2496A= (p.Pro832=)
c.*1189A= (n.*1189A=)
c.2730A= (p.Pro910=)
c.327A= (p.Pro109=)
c.3295A= (p.Ile1099=)
n.3378A=
n.3374A=
16g.1208134A>CCA492892167CACNA1Hc.3276A>C (p.Pro1092=)
c.3237A>C (p.Pro1079=)
c.*2723A>C (n.*2723A>C)
c.2496A>C (p.Pro832=)
c.*1189A>C (n.*1189A>C)
c.2730A>C (p.Pro910=)
c.327A>C (p.Pro109=)
c.3295A>C (p.Ile1099Leu)
n.3378A>C
n.3374A>C
16g.1208134A>GCA492892170CACNA1Hc.3276A>G (p.Pro1092=)
c.3237A>G (p.Pro1079=)
c.*2723A>G (n.*2723A>G)
c.2496A>G (p.Pro832=)
c.*1189A>G (n.*1189A>G)
c.2730A>G (p.Pro910=)
c.327A>G (p.Pro109=)
c.3295A>G (p.Ile1099Val)
n.3378A>G
n.3374A>G
16g.1208134A>TCA7800704CACNA1Hc.3276A>T (p.Pro1092=)
c.3237A>T (p.Pro1079=)
c.*2723A>T (n.*2723A>T)
c.2496A>T (p.Pro832=)
c.*1189A>T (n.*1189A>T)
c.2730A>T (p.Pro910=)
c.327A>T (p.Pro109=)
c.3295A>T (p.Ile1099Phe)
n.3378A>T
n.3374A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208135T>ACA394172110CACNA1Hc.3277T>A (p.Phe1093Ile)
c.3238T>A (p.Phe1080Ile)
c.*2724T>A (n.*2724T>A)
c.2497T>A (p.Phe833Ile)
c.*1190T>A (n.*1190T>A)
c.2731T>A (p.Phe911Ile)
c.328T>A (p.Phe110Ile)
c.3296T>A (p.Ile1099Asn)
n.3379T>A
n.3375T>A
16g.1208135T>CCA394172111CACNA1Hc.3277T>C (p.Phe1093Leu)
c.3238T>C (p.Phe1080Leu)
c.*2724T>C (n.*2724T>C)
c.2497T>C (p.Phe833Leu)
c.*1190T>C (n.*1190T>C)
c.2731T>C (p.Phe911Leu)
c.328T>C (p.Phe110Leu)
c.3296T>C (p.Ile1099Thr)
n.3379T>C
n.3375T>C
16g.1208135T>GCA394172113CACNA1Hc.3277T>G (p.Phe1093Val)
c.3238T>G (p.Phe1080Val)
c.*2724T>G (n.*2724T>G)
c.2497T>G (p.Phe833Val)
c.*1190T>G (n.*1190T>G)
c.2731T>G (p.Phe911Val)
c.328T>G (p.Phe110Val)
c.3296T>G (p.Ile1099Ser)
n.3379T>G
n.3375T>G
16g.1208136T>ACA394172115CACNA1Hc.3278T>A (p.Phe1093Tyr)
c.3239T>A (p.Phe1080Tyr)
c.*2725T>A (n.*2725T>A)
c.2498T>A (p.Phe833Tyr)
c.*1191T>A (n.*1191T>A)
c.2732T>A (p.Phe911Tyr)
c.329T>A (p.Phe110Tyr)
c.3297T>A (p.Ile1099=)
n.3380T>A
n.3376T>A
16g.1208136T>CCA394172116CACNA1Hc.3278T>C (p.Phe1093Ser)
c.3239T>C (p.Phe1080Ser)
c.*2725T>C (n.*2725T>C)
c.2498T>C (p.Phe833Ser)
c.*1191T>C (n.*1191T>C)
c.2732T>C (p.Phe911Ser)
c.329T>C (p.Phe110Ser)
c.3297T>C (p.Ile1099=)
n.3380T>C
n.3376T>C
16g.1208136T>GCA394172118CACNA1Hc.3278T>G (p.Phe1093Cys)
c.3239T>G (p.Phe1080Cys)
c.*2725T>G (n.*2725T>G)
c.2498T>G (p.Phe833Cys)
c.*1191T>G (n.*1191T>G)
c.2732T>G (p.Phe911Cys)
c.329T>G (p.Phe110Cys)
c.3297T>G (p.Ile1099Met)
n.3380T>G
n.3376T>G
16g.1208137C>ACA394172121CACNA1Hc.3279C>A (p.Phe1093Leu)
c.3240C>A (p.Phe1080Leu)
c.*2726C>A (n.*2726C>A)
c.2499C>A (p.Phe833Leu)
c.*1192C>A (n.*1192C>A)
c.2733C>A (p.Phe911Leu)
c.330C>A (p.Phe110Leu)
c.3298C>A (p.Pro1100Thr)
n.3381C>A
n.3377C>A
 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208137C=CA2201517658CACNA1Hc.3279C= (p.Phe1093=)
c.3240C= (p.Phe1080=)
c.*2726C= (n.*2726C=)
c.2499C= (p.Phe833=)
c.*1192C= (n.*1192C=)
c.2733C= (p.Phe911=)
c.330C= (p.Phe110=)
c.3298C= (p.Pro1100=)
n.3381C=
n.3377C=
16g.1208137C>GCA394172119CACNA1Hc.3279C>G (p.Phe1093Leu)
c.3240C>G (p.Phe1080Leu)
c.*2726C>G (n.*2726C>G)
c.2499C>G (p.Phe833Leu)
c.*1192C>G (n.*1192C>G)
c.2733C>G (p.Phe911Leu)
c.330C>G (p.Phe110Leu)
c.3298C>G (p.Pro1100Ala)
n.3381C>G
n.3377C>G
 dbSNP gnomAD v4
16g.1208137C>TCA492892172CACNA1Hc.3279C>T (p.Phe1093=)
c.3240C>T (p.Phe1080=)
c.*2726C>T (n.*2726C>T)
c.2499C>T (p.Phe833=)
c.*1192C>T (n.*1192C>T)
c.2733C>T (p.Phe911=)
c.330C>T (p.Phe110=)
c.3298C>T (p.Pro1100Ser)
n.3381C>T
n.3377C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208138C>ACA394172122CACNA1Hc.3280C>A (p.Leu1094Met)
c.3241C>A (p.Leu1081Met)
c.*2727C>A (n.*2727C>A)
c.2500C>A (p.Leu834Met)
c.*1193C>A (n.*1193C>A)
c.2734C>A (p.Leu912Met)
c.331C>A (p.Leu111Met)
c.3299C>A (p.Pro1100His)
n.3382C>A
n.3378C>A
 ClinVar dbSNP gnomAD v4
16g.1208138C=CA2201517659CACNA1Hc.3280C= (p.Leu1094=)
c.3241C= (p.Leu1081=)
c.*2727C= (n.*2727C=)
c.2500C= (p.Leu834=)
c.*1193C= (n.*1193C=)
c.2734C= (p.Leu912=)
c.331C= (p.Leu111=)
c.3299C= (p.Pro1100=)
n.3382C=
n.3378C=
16g.1208138C>GCA394172123CACNA1Hc.3280C>G (p.Leu1094Val)
c.3241C>G (p.Leu1081Val)
c.*2727C>G (n.*2727C>G)
c.2500C>G (p.Leu834Val)
c.*1193C>G (n.*1193C>G)
c.2734C>G (p.Leu912Val)
c.331C>G (p.Leu111Val)
c.3299C>G (p.Pro1100Arg)
n.3382C>G
n.3378C>G
16g.1208138C>TCA492892174CACNA1Hc.3280C>T (p.Leu1094=)
c.3241C>T (p.Leu1081=)
c.*2727C>T (n.*2727C>T)
c.2500C>T (p.Leu834=)
c.*1193C>T (n.*1193C>T)
c.2734C>T (p.Leu912=)
c.331C>T (p.Leu111=)
c.3299C>T (p.Pro1100Leu)
n.3382C>T
n.3378C>T
 ClinVar
16g.1208139T>ACA394172125CACNA1Hc.3281T>A (p.Leu1094Gln)
c.3242T>A (p.Leu1081Gln)
c.*2728T>A (n.*2728T>A)
c.2501T>A (p.Leu834Gln)
c.*1194T>A (n.*1194T>A)
c.2735T>A (p.Leu912Gln)
c.332T>A (p.Leu111Gln)
c.3300T>A (p.Pro1100=)
n.3383T>A
n.3379T>A
16g.1208139T>CCA394172126CACNA1Hc.3281T>C (p.Leu1094Pro)
c.3242T>C (p.Leu1081Pro)
c.*2728T>C (n.*2728T>C)
c.2501T>C (p.Leu834Pro)
c.*1194T>C (n.*1194T>C)
c.2735T>C (p.Leu912Pro)
c.332T>C (p.Leu111Pro)
c.3300T>C (p.Pro1100=)
n.3383T>C
n.3379T>C
 ClinVar gnomAD v4
16g.1208139T>GCA394172127CACNA1Hc.3281T>G (p.Leu1094Arg)
c.3242T>G (p.Leu1081Arg)
c.*2728T>G (n.*2728T>G)
c.2501T>G (p.Leu834Arg)
c.*1194T>G (n.*1194T>G)
c.2735T>G (p.Leu912Arg)
c.332T>G (p.Leu111Arg)
c.3300T>G (p.Pro1100=)
n.3383T>G
n.3379T>G
16g.1208140G>ACA492892176CACNA1Hc.3282G>A (p.Leu1094=)
c.3243G>A (p.Leu1081=)
c.*2729G>A (n.*2729G>A)
c.2502G>A (p.Leu834=)
c.*1195G>A (n.*1195G>A)
c.2736G>A (p.Leu912=)
c.333G>A (p.Leu111=)
c.3301G>A (p.Gly1101Arg)
n.3384G>A
n.3380G>A
 gnomAD v4
16g.1208140G>CCA492892177CACNA1Hc.3282G>C (p.Leu1094=)
c.3243G>C (p.Leu1081=)
c.*2729G>C (n.*2729G>C)
c.2502G>C (p.Leu834=)
c.*1195G>C (n.*1195G>C)
c.2736G>C (p.Leu912=)
c.333G>C (p.Leu111=)
c.3301G>C (p.Gly1101Arg)
n.3384G>C
n.3380G>C
16g.1208140G>TCA492892178CACNA1Hc.3282G>T (p.Leu1094=)
c.3243G>T (p.Leu1081=)
c.*2729G>T (n.*2729G>T)
c.2502G>T (p.Leu834=)
c.*1195G>T (n.*1195G>T)
c.2736G>T (p.Leu912=)
c.333G>T (p.Leu111=)
c.3301G>T (p.Gly1101Ter)
n.3384G>T
n.3380G>T
 gnomAD v4
16g.1208141G>ACA7800705CACNA1Hc.3283G>A (p.Asp1095Asn)
c.3244G>A (p.Asp1082Asn)
c.*2730G>A (n.*2730G>A)
c.2503G>A (p.Asp835Asn)
c.*1196G>A (n.*1196G>A)
c.2737G>A (p.Asp913Asn)
c.334G>A (p.Asp112Asn)
c.3302G>A (p.Gly1101Glu)
n.3385G>A
n.3381G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208141G>CCA394172129CACNA1Hc.3283G>C (p.Asp1095His)
c.3244G>C (p.Asp1082His)
c.*2730G>C (n.*2730G>C)
c.2503G>C (p.Asp835His)
c.*1196G>C (n.*1196G>C)
c.2737G>C (p.Asp913His)
c.334G>C (p.Asp112His)
c.3302G>C (p.Gly1101Ala)
n.3385G>C
n.3381G>C
16g.1208141G=CA2201517660CACNA1Hc.3283G= (p.Asp1095=)
c.3244G= (p.Asp1082=)
c.*2730G= (n.*2730G=)
c.2503G= (p.Asp835=)
c.*1196G= (n.*1196G=)
c.2737G= (p.Asp913=)
c.334G= (p.Asp112=)
c.3302G= (p.Gly1101=)
n.3385G=
n.3381G=
16g.1208141G>TCA394172131CACNA1Hc.3283G>T (p.Asp1095Tyr)
c.3244G>T (p.Asp1082Tyr)
c.*2730G>T (n.*2730G>T)
c.2503G>T (p.Asp835Tyr)
c.*1196G>T (n.*1196G>T)
c.2737G>T (p.Asp913Tyr)
c.334G>T (p.Asp112Tyr)
c.3302G>T (p.Gly1101Val)
n.3385G>T
n.3381G>T
 gnomAD v4
16g.1208142A=CA2201517661CACNA1Hc.3284A= (p.Asp1095=)
c.3245A= (p.Asp1082=)
c.*2731A= (n.*2731A=)
c.2504A= (p.Asp835=)
c.*1197A= (n.*1197A=)
c.2738A= (p.Asp913=)
c.335A= (p.Asp112=)
c.3303A= (p.Gly1101=)
n.3386A=
n.3382A=
16g.1208142A>CCA394172132CACNA1Hc.3284A>C (p.Asp1095Ala)
c.3245A>C (p.Asp1082Ala)
c.*2731A>C (n.*2731A>C)
c.2504A>C (p.Asp835Ala)
c.*1197A>C (n.*1197A>C)
c.2738A>C (p.Asp913Ala)
c.335A>C (p.Asp112Ala)
c.3303A>C (p.Gly1101=)
n.3386A>C
n.3382A>C
16g.1208142A>GCA394172133CACNA1Hc.3284A>G (p.Asp1095Gly)
c.3245A>G (p.Asp1082Gly)
c.*2731A>G (n.*2731A>G)
c.2504A>G (p.Asp835Gly)
c.*1197A>G (n.*1197A>G)
c.2738A>G (p.Asp913Gly)
c.335A>G (p.Asp112Gly)
c.3303A>G (p.Gly1101=)
n.3386A>G
n.3382A>G
 dbSNP gnomAD v2 gnomAD v4
16g.1208142A>TCA394172134CACNA1Hc.3284A>T (p.Asp1095Val)
c.3245A>T (p.Asp1082Val)
c.*2731A>T (n.*2731A>T)
c.2504A>T (p.Asp835Val)
c.*1197A>T (n.*1197A>T)
c.2738A>T (p.Asp913Val)
c.335A>T (p.Asp112Val)
c.3303A>T (p.Gly1101=)
n.3386A>T
n.3382A>T
 gnomAD v4
16g.1208143T>ACA394172136CACNA1Hc.3285T>A (p.Asp1095Glu)
c.3246T>A (p.Asp1082Glu)
c.*2732T>A (n.*2732T>A)
c.2505T>A (p.Asp835Glu)
c.*1198T>A (n.*1198T>A)
c.2739T>A (p.Asp913Glu)
c.336T>A (p.Asp112Glu)
c.3304T>A (p.Cys1102Ser)
n.3387T>A
n.3383T>A
16g.1208143T>CCA492892180CACNA1Hc.3285T>C (p.Asp1095=)
c.3246T>C (p.Asp1082=)
c.*2732T>C (n.*2732T>C)
c.2505T>C (p.Asp835=)
c.*1198T>C (n.*1198T>C)
c.2739T>C (p.Asp913=)
c.336T>C (p.Asp112=)
c.3304T>C (p.Cys1102Arg)
n.3387T>C
n.3383T>C
 gnomAD v4
16g.1208143T>GCA394172137CACNA1Hc.3285T>G (p.Asp1095Glu)
c.3246T>G (p.Asp1082Glu)
c.*2732T>G (n.*2732T>G)
c.2505T>G (p.Asp835Glu)
c.*1198T>G (n.*1198T>G)
c.2739T>G (p.Asp913Glu)
c.336T>G (p.Asp112Glu)
c.3304T>G (p.Cys1102Gly)
n.3387T>G
n.3383T>G
16g.1208144G>ACA394172142CACNA1Hc.3286G>A (p.Ala1096Thr)
c.3247G>A (p.Ala1083Thr)
c.*2733G>A (n.*2733G>A)
c.2506G>A (p.Ala836Thr)
c.*1199G>A (n.*1199G>A)
c.2740G>A (p.Ala914Thr)
c.337G>A (p.Ala113Thr)
c.3305G>A (p.Cys1102Tyr)
n.3388G>A
n.3384G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208144G>CCA394172141CACNA1Hc.3286G>C (p.Ala1096Pro)
c.3247G>C (p.Ala1083Pro)
c.*2733G>C (n.*2733G>C)
c.2506G>C (p.Ala836Pro)
c.*1199G>C (n.*1199G>C)
c.2740G>C (p.Ala914Pro)
c.337G>C (p.Ala113Pro)
c.3305G>C (p.Cys1102Ser)
n.3388G>C
n.3384G>C
16g.1208144G=CA2201517662CACNA1Hc.3286G= (p.Ala1096=)
c.3247G= (p.Ala1083=)
c.*2733G= (n.*2733G=)
c.2506G= (p.Ala836=)
c.*1199G= (n.*1199G=)
c.2740G= (p.Ala914=)
c.337G= (p.Ala113=)
c.3305G= (p.Cys1102=)
n.3388G=
n.3384G=
16g.1208144G>TCA394172139CACNA1Hc.3286G>T (p.Ala1096Ser)
c.3247G>T (p.Ala1083Ser)
c.*2733G>T (n.*2733G>T)
c.2506G>T (p.Ala836Ser)
c.*1199G>T (n.*1199G>T)
c.2740G>T (p.Ala914Ser)
c.337G>T (p.Ala113Ser)
c.3305G>T (p.Cys1102Phe)
n.3388G>T
n.3384G>T
 gnomAD v4
16g.1208145C>ACA394172144CACNA1Hc.3287C>A (p.Ala1096Glu)
c.3248C>A (p.Ala1083Glu)
c.*2734C>A (n.*2734C>A)
c.2507C>A (p.Ala836Glu)
c.*1200C>A (n.*1200C>A)
c.2741C>A (p.Ala914Glu)
c.338C>A (p.Ala113Glu)
c.3306C>A (p.Cys1102Ter)
n.3389C>A
n.3385C>A
 gnomAD v4
16g.1208145C=CA2201517663CACNA1Hc.3287C= (p.Ala1096=)
c.3248C= (p.Ala1083=)
c.*2734C= (n.*2734C=)
c.2507C= (p.Ala836=)
c.*1200C= (n.*1200C=)
c.2741C= (p.Ala914=)
c.338C= (p.Ala113=)
c.3306C= (p.Cys1102=)
n.3389C=
n.3385C=
16g.1208145C>GCA394172145CACNA1Hc.3287C>G (p.Ala1096Gly)
c.3248C>G (p.Ala1083Gly)
c.*2734C>G (n.*2734C>G)
c.2507C>G (p.Ala836Gly)
c.*1200C>G (n.*1200C>G)
c.2741C>G (p.Ala914Gly)
c.338C>G (p.Ala113Gly)
c.3306C>G (p.Cys1102Trp)
n.3389C>G
n.3385C>G
16g.1208145C>TCA394172147CACNA1Hc.3287C>T (p.Ala1096Val)
c.3248C>T (p.Ala1083Val)
c.*2734C>T (n.*2734C>T)
c.2507C>T (p.Ala836Val)
c.*1200C>T (n.*1200C>T)
c.2741C>T (p.Ala914Val)
c.338C>T (p.Ala113Val)
c.3306C>T (p.Cys1102=)
n.3389C>T
n.3385C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208146A>CCA492892184CACNA1Hc.3288A>C (p.Ala1096=)
c.3249A>C (p.Ala1083=)
c.*2735A>C (n.*2735A>C)
c.2508A>C (p.Ala836=)
c.*1201A>C (n.*1201A>C)
c.2742A>C (p.Ala914=)
c.339A>C (p.Ala113=)
c.3307A>C (p.Ser1103Arg)
n.3390A>C
n.3386A>C
16g.1208146A>GCA492892186CACNA1Hc.3288A>G (p.Ala1096=)
c.3249A>G (p.Ala1083=)
c.*2735A>G (n.*2735A>G)
c.2508A>G (p.Ala836=)
c.*1201A>G (n.*1201A>G)
c.2742A>G (p.Ala914=)
c.339A>G (p.Ala113=)
c.3307A>G (p.Ser1103Gly)
n.3390A>G
n.3386A>G
 gnomAD v4
16g.1208146A>TCA492892185CACNA1Hc.3288A>T (p.Ala1096=)
c.3249A>T (p.Ala1083=)
c.*2735A>T (n.*2735A>T)
c.2508A>T (p.Ala836=)
c.*1201A>T (n.*1201A>T)
c.2742A>T (p.Ala914=)
c.339A>T (p.Ala113=)
c.3307A>T (p.Ser1103Cys)
n.3390A>T
n.3386A>T
 gnomAD v4
16g.1208147G>ACA7800706CACNA1Hc.3289G>A (p.Ala1097Thr)
c.3250G>A (p.Ala1084Thr)
c.*2736G>A (n.*2736G>A)
c.2509G>A (p.Ala837Thr)
c.*1202G>A (n.*1202G>A)
c.2743G>A (p.Ala915Thr)
c.340G>A (p.Ala114Thr)
c.3308G>A (p.Ser1103Asn)
n.3391G>A
n.3387G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208147G>CCA394172149CACNA1Hc.3289G>C (p.Ala1097Pro)
c.3250G>C (p.Ala1084Pro)
c.*2736G>C (n.*2736G>C)
c.2509G>C (p.Ala837Pro)
c.*1202G>C (n.*1202G>C)
c.2743G>C (p.Ala915Pro)
c.340G>C (p.Ala114Pro)
c.3308G>C (p.Ser1103Thr)
n.3391G>C
n.3387G>C
 gnomAD v4
16g.1208147G=CA2201517664CACNA1Hc.3289G= (p.Ala1097=)
c.3250G= (p.Ala1084=)
c.*2736G= (n.*2736G=)
c.2509G= (p.Ala837=)
c.*1202G= (n.*1202G=)
c.2743G= (p.Ala915=)
c.340G= (p.Ala114=)
c.3308G= (p.Ser1103=)
n.3391G=
n.3387G=
16g.1208147G>TCA394172150CACNA1Hc.3289G>T (p.Ala1097Ser)
c.3250G>T (p.Ala1084Ser)
c.*2736G>T (n.*2736G>T)
c.2509G>T (p.Ala837Ser)
c.*1202G>T (n.*1202G>T)
c.2743G>T (p.Ala915Ser)
c.340G>T (p.Ala114Ser)
c.3308G>T (p.Ser1103Ile)
n.3391G>T
n.3387G>T
16g.1208148C>ACA394172153CACNA1Hc.3290C>A (p.Ala1097Asp)
c.3251C>A (p.Ala1084Asp)
c.*2737C>A (n.*2737C>A)
c.2510C>A (p.Ala837Asp)
c.*1203C>A (n.*1203C>A)
c.2744C>A (p.Ala915Asp)
c.341C>A (p.Ala114Asp)
c.3309C>A (p.Ser1103Arg)
n.3392C>A
n.3388C>A
 gnomAD v4
16g.1208148C=CA2201517665CACNA1Hc.3290C= (p.Ala1097=)
c.3251C= (p.Ala1084=)
c.*2737C= (n.*2737C=)
c.2510C= (p.Ala837=)
c.*1203C= (n.*1203C=)
c.2744C= (p.Ala915=)
c.341C= (p.Ala114=)
c.3309C= (p.Ser1103=)
n.3392C=
n.3388C=
16g.1208148C>GCA394172155CACNA1Hc.3290C>G (p.Ala1097Gly)
c.3251C>G (p.Ala1084Gly)
c.*2737C>G (n.*2737C>G)
c.2510C>G (p.Ala837Gly)
c.*1203C>G (n.*1203C>G)
c.2744C>G (p.Ala915Gly)
c.341C>G (p.Ala114Gly)
c.3309C>G (p.Ser1103Arg)
n.3392C>G
n.3388C>G
16g.1208148C>TCA7800707CACNA1Hc.3290C>T (p.Ala1097Val)
c.3251C>T (p.Ala1084Val)
c.*2737C>T (n.*2737C>T)
c.2510C>T (p.Ala837Val)
c.*1203C>T (n.*1203C>T)
c.2744C>T (p.Ala915Val)
c.341C>T (p.Ala114Val)
c.3309C>T (p.Ser1103=)
n.3392C>T
n.3388C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208152delCA620697721CACNA1Hc.3294del (p.Ser1099AlafsTer?)
c.3255del (p.Ser1086AlafsTer?)
c.*2741del (n.*2741del)
c.2514del (p.Ser839AlafsTer?)
c.*1207del (n.*1207del)
c.2748del (p.Ser917AlafsTer?)
c.345del (p.Ser116AlafsTer?)
c.3313del (p.Gln1105SerfsTer?)
n.3396del
n.3392del
 gnomAD v2 gnomAD v4
16g.1208149C>ACA492892187CACNA1Hc.3291C>A (p.Ala1097=)
c.3252C>A (p.Ala1084=)
c.*2738C>A (n.*2738C>A)
c.2511C>A (p.Ala837=)
c.*1204C>A (n.*1204C>A)
c.2745C>A (p.Ala915=)
c.342C>A (p.Ala114=)
c.3310C>A (p.Pro1104Thr)
n.3393C>A
n.3389C>A
16g.1208149C=CA2201517666CACNA1Hc.3291C= (p.Ala1097=)
c.3252C= (p.Ala1084=)
c.*2738C= (n.*2738C=)
c.2511C= (p.Ala837=)
c.*1204C= (n.*1204C=)
c.2745C= (p.Ala915=)
c.342C= (p.Ala114=)
c.3310C= (p.Pro1104=)
n.3393C=
n.3389C=
16g.1208149C>GCA492892188CACNA1Hc.3291C>G (p.Ala1097=)
c.3252C>G (p.Ala1084=)
c.*2738C>G (n.*2738C>G)
c.2511C>G (p.Ala837=)
c.*1204C>G (n.*1204C>G)
c.2745C>G (p.Ala915=)
c.342C>G (p.Ala114=)
c.3310C>G (p.Pro1104Ala)
n.3393C>G
n.3389C>G
16g.1208149C>TCA7800708CACNA1Hc.3291C>T (p.Ala1097=)
c.3252C>T (p.Ala1084=)
c.*2738C>T (n.*2738C>T)
c.2511C>T (p.Ala837=)
c.*1204C>T (n.*1204C>T)
c.2745C>T (p.Ala915=)
c.342C>T (p.Ala114=)
c.3310C>T (p.Pro1104Ser)
n.3393C>T
n.3389C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208150C>ACA394172157CACNA1Hc.3292C>A (p.Pro1098Thr)
c.3253C>A (p.Pro1085Thr)
c.*2739C>A (n.*2739C>A)
c.2512C>A (p.Pro838Thr)
c.*1205C>A (n.*1205C>A)
c.2746C>A (p.Pro916Thr)
c.343C>A (p.Pro115Thr)
c.3311C>A (p.Pro1104His)
n.3394C>A
n.3390C>A
 gnomAD v4
16g.1208150C=CA2201517667CACNA1Hc.3292C= (p.Pro1098=)
c.3253C= (p.Pro1085=)
c.*2739C= (n.*2739C=)
c.2512C= (p.Pro838=)
c.*1205C= (n.*1205C=)
c.2746C= (p.Pro916=)
c.343C= (p.Pro115=)
c.3311C= (p.Pro1104=)
n.3394C=
n.3390C=
16g.1208150C>GCA276661928CACNA1Hc.3292C>G (p.Pro1098Ala)
c.3253C>G (p.Pro1085Ala)
c.*2739C>G (n.*2739C>G)
c.2512C>G (p.Pro838Ala)
c.*1205C>G (n.*1205C>G)
c.2746C>G (p.Pro916Ala)
c.343C>G (p.Pro115Ala)
c.3311C>G (p.Pro1104Arg)
n.3394C>G
n.3390C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208150C>TCA7800709CACNA1Hc.3292C>T (p.Pro1098Ser)
c.3253C>T (p.Pro1085Ser)
c.*2739C>T (n.*2739C>T)
c.2512C>T (p.Pro838Ser)
c.*1205C>T (n.*1205C>T)
c.2746C>T (p.Pro916Ser)
c.343C>T (p.Pro115Ser)
c.3311C>T (p.Pro1104Leu)
n.3394C>T
n.3390C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208155_1208162delCA2630927081CACNA1Hc.3297_3304del (p.Ser1099ArgfsTer?)
c.3258_3265del (p.Ser1086ArgfsTer?)
c.*2744_*2751del (n.*2744_*2751del)
c.2517_2524del (p.Ser839ArgfsTer?)
c.*1210_*1217del (n.*1210_*1217del)
c.2751_2758del (p.Ser917ArgfsTer?)
c.348_355del (p.Ser116ArgfsTer?)
c.3316_3323del (p.Pro1106ThrfsTer21)
n.3399_3406del
n.3395_3402del
 gnomAD v4
16g.1208151C>ACA394172162CACNA1Hc.3293C>A (p.Pro1098His)
c.3254C>A (p.Pro1085His)
c.*2740C>A (n.*2740C>A)
c.2513C>A (p.Pro838His)
c.*1206C>A (n.*1206C>A)
c.2747C>A (p.Pro916His)
c.344C>A (p.Pro115His)
c.3312C>A (p.Pro1104=)
n.3395C>A
n.3391C>A
 gnomAD v4
16g.1208151C=CA2201517668CACNA1Hc.3293C= (p.Pro1098=)
c.3254C= (p.Pro1085=)
c.*2740C= (n.*2740C=)
c.2513C= (p.Pro838=)
c.*1206C= (n.*1206C=)
c.2747C= (p.Pro916=)
c.344C= (p.Pro115=)
c.3312C= (p.Pro1104=)
n.3395C=
n.3391C=
16g.1208151C>GCA394172165CACNA1Hc.3293C>G (p.Pro1098Arg)
c.3254C>G (p.Pro1085Arg)
c.*2740C>G (n.*2740C>G)
c.2513C>G (p.Pro838Arg)
c.*1206C>G (n.*1206C>G)
c.2747C>G (p.Pro916Arg)
c.344C>G (p.Pro115Arg)
c.3312C>G (p.Pro1104=)
n.3395C>G
n.3391C>G
 dbSNP gnomAD v3 gnomAD v4
16g.1208151C>TCA276661945CACNA1Hc.3293C>T (p.Pro1098Leu)
c.3254C>T (p.Pro1085Leu)
c.*2740C>T (n.*2740C>T)
c.2513C>T (p.Pro838Leu)
c.*1206C>T (n.*1206C>T)
c.2747C>T (p.Pro916Leu)
c.344C>T (p.Pro115Leu)
c.3312C>T (p.Pro1104=)
n.3395C>T
n.3391C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208152C>ACA492892192CACNA1Hc.3294C>A (p.Pro1098=)
c.3255C>A (p.Pro1085=)
c.*2741C>A (n.*2741C>A)
c.2514C>A (p.Pro838=)
c.*1207C>A (n.*1207C>A)
c.2748C>A (p.Pro916=)
c.345C>A (p.Pro115=)
c.3313C>A (p.Gln1105Lys)
n.3396C>A
n.3392C>A
 gnomAD v4
16g.1208152C=CA2201517669CACNA1Hc.3294C= (p.Pro1098=)
c.3255C= (p.Pro1085=)
c.*2741C= (n.*2741C=)
c.2514C= (p.Pro838=)
c.*1207C= (n.*1207C=)
c.2748C= (p.Pro916=)
c.345C= (p.Pro115=)
c.3313C= (p.Gln1105=)
n.3396C=
n.3392C=
16g.1208152C>GCA492892193CACNA1Hc.3294C>G (p.Pro1098=)
c.3255C>G (p.Pro1085=)
c.*2741C>G (n.*2741C>G)
c.2514C>G (p.Pro838=)
c.*1207C>G (n.*1207C>G)
c.2748C>G (p.Pro916=)
c.345C>G (p.Pro115=)
c.3313C>G (p.Gln1105Glu)
n.3396C>G
n.3392C>G
 ClinVar dbSNP gnomAD v4
16g.1208152C>TCA276661946CACNA1Hc.3294C>T (p.Pro1098=)
c.3255C>T (p.Pro1085=)
c.*2741C>T (n.*2741C>T)
c.2514C>T (p.Pro838=)
c.*1207C>T (n.*1207C>T)
c.2748C>T (p.Pro916=)
c.345C>T (p.Pro115=)
c.3313C>T (p.Gln1105Ter)
n.3396C>T
n.3392C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208153A>CCA394172168CACNA1Hc.3295A>C (p.Ser1099Arg)
c.3256A>C (p.Ser1086Arg)
c.*2742A>C (n.*2742A>C)
c.2515A>C (p.Ser839Arg)
c.*1208A>C (n.*1208A>C)
c.2749A>C (p.Ser917Arg)
c.346A>C (p.Ser116Arg)
c.3314A>C (p.Gln1105Pro)
n.3397A>C
n.3393A>C
16g.1208153A>GCA394172169CACNA1Hc.3295A>G (p.Ser1099Gly)
c.3256A>G (p.Ser1086Gly)
c.*2742A>G (n.*2742A>G)
c.2515A>G (p.Ser839Gly)
c.*1208A>G (n.*1208A>G)
c.2749A>G (p.Ser917Gly)
c.346A>G (p.Ser116Gly)
c.3314A>G (p.Gln1105Arg)
n.3397A>G
n.3393A>G
 gnomAD v4
16g.1208153A>TCA394172171CACNA1Hc.3295A>T (p.Ser1099Cys)
c.3256A>T (p.Ser1086Cys)
c.*2742A>T (n.*2742A>T)
c.2515A>T (p.Ser839Cys)
c.*1208A>T (n.*1208A>T)
c.2749A>T (p.Ser917Cys)
c.346A>T (p.Ser116Cys)
c.3314A>T (p.Gln1105Leu)
n.3397A>T
n.3393A>T
16g.1208154G>ACA394172175CACNA1Hc.3296G>A (p.Ser1099Asn)
c.3257G>A (p.Ser1086Asn)
c.*2743G>A (n.*2743G>A)
c.2516G>A (p.Ser839Asn)
c.*1209G>A (n.*1209G>A)
c.2750G>A (p.Ser917Asn)
c.347G>A (p.Ser116Asn)
c.3315G>A (p.Gln1105=)
n.3398G>A
n.3394G>A
 dbSNP
16g.1208154G>CCA394172177CACNA1Hc.3296G>C (p.Ser1099Thr)
c.3257G>C (p.Ser1086Thr)
c.*2743G>C (n.*2743G>C)
c.2516G>C (p.Ser839Thr)
c.*1209G>C (n.*1209G>C)
c.2750G>C (p.Ser917Thr)
c.347G>C (p.Ser116Thr)
c.3315G>C (p.Gln1105His)
n.3398G>C
n.3394G>C
16g.1208154G=CA2201517670CACNA1Hc.3296G= (p.Ser1099=)
c.3257G= (p.Ser1086=)
c.*2743G= (n.*2743G=)
c.2516G= (p.Ser839=)
c.*1209G= (n.*1209G=)
c.2750G= (p.Ser917=)
c.347G= (p.Ser116=)
c.3315G= (p.Gln1105=)
n.3398G=
n.3394G=
16g.1208154G>TCA394172179CACNA1Hc.3296G>T (p.Ser1099Ile)
c.3257G>T (p.Ser1086Ile)
c.*2743G>T (n.*2743G>T)
c.2516G>T (p.Ser839Ile)
c.*1209G>T (n.*1209G>T)
c.2750G>T (p.Ser917Ile)
c.347G>T (p.Ser116Ile)
c.3315G>T (p.Gln1105His)
n.3398G>T
n.3394G>T
16g.1208155C>ACA276661947CACNA1Hc.3297C>A (p.Ser1099Arg)
c.3258C>A (p.Ser1086Arg)
c.*2744C>A (n.*2744C>A)
c.2517C>A (p.Ser839Arg)
c.*1210C>A (n.*1210C>A)
c.2751C>A (p.Ser917Arg)
c.348C>A (p.Ser116Arg)
c.3316C>A (p.Pro1106Thr)
n.3399C>A
n.3395C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208155C=CA2201517671CACNA1Hc.3297C= (p.Ser1099=)
c.3258C= (p.Ser1086=)
c.*2744C= (n.*2744C=)
c.2517C= (p.Ser839=)
c.*1210C= (n.*1210C=)
c.2751C= (p.Ser917=)
c.348C= (p.Ser116=)
c.3316C= (p.Pro1106=)
n.3399C=
n.3395C=
16g.1208155C>GCA394172182CACNA1Hc.3297C>G (p.Ser1099Arg)
c.3258C>G (p.Ser1086Arg)
c.*2744C>G (n.*2744C>G)
c.2517C>G (p.Ser839Arg)
c.*1210C>G (n.*1210C>G)
c.2751C>G (p.Ser917Arg)
c.348C>G (p.Ser116Arg)
c.3316C>G (p.Pro1106Ala)
n.3399C>G
n.3395C>G
 dbSNP gnomAD v3 gnomAD v4
16g.1208155C>TCA492892197CACNA1Hc.3297C>T (p.Ser1099=)
c.3258C>T (p.Ser1086=)
c.*2744C>T (n.*2744C>T)
c.2517C>T (p.Ser839=)
c.*1210C>T (n.*1210C>T)
c.2751C>T (p.Ser917=)
c.348C>T (p.Ser116=)
c.3316C>T (p.Pro1106Ser)
n.3399C>T
n.3395C>T
 ClinVar dbSNP gnomAD v4
16g.1208156C>ACA394172185CACNA1Hc.3298C>A (p.Leu1100Ile)
c.3259C>A (p.Leu1087Ile)
c.*2745C>A (n.*2745C>A)
c.2518C>A (p.Leu840Ile)
c.*1211C>A (n.*1211C>A)
c.2752C>A (p.Leu918Ile)
c.349C>A (p.Leu117Ile)
c.3317C>A (p.Pro1106His)
n.3400C>A
n.3396C>A
16g.1208156C=CA2201517672CACNA1Hc.3298C= (p.Leu1100=)
c.3259C= (p.Leu1087=)
c.*2745C= (n.*2745C=)
c.2518C= (p.Leu840=)
c.*1211C= (n.*1211C=)
c.2752C= (p.Leu918=)
c.349C= (p.Leu117=)
c.3317C= (p.Pro1106=)
n.3400C=
n.3396C=
16g.1208156C>GCA394172188CACNA1Hc.3298C>G (p.Leu1100Val)
c.3259C>G (p.Leu1087Val)
c.*2745C>G (n.*2745C>G)
c.2518C>G (p.Leu840Val)
c.*1211C>G (n.*1211C>G)
c.2752C>G (p.Leu918Val)
c.349C>G (p.Leu117Val)
c.3317C>G (p.Pro1106Arg)
n.3400C>G
n.3396C>G
 gnomAD v4
16g.1208156C>TCA7800710CACNA1Hc.3298C>T (p.Leu1100Phe)
c.3259C>T (p.Leu1087Phe)
c.*2745C>T (n.*2745C>T)
c.2518C>T (p.Leu840Phe)
c.*1211C>T (n.*1211C>T)
c.2752C>T (p.Leu918Phe)
c.349C>T (p.Leu117Phe)
c.3317C>T (p.Pro1106Leu)
n.3400C>T
n.3396C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208156_1208157insAAACACCA2805545537CACNA1Hc.3298_3299insAAACAC (p.Ser1099_Leu1100insGlnThr)
c.3259_3260insAAACAC (p.Ser1086_Leu1087insGlnThr)
c.*2745_*2746insAAACAC (n.*2745_*2746insAAACAC)
c.2518_2519insAAACAC (p.Ser839_Leu840insGlnThr)
c.*1211_*1212insAAACAC (n.*1211_*1212insAAACAC)
c.2752_2753insAAACAC (p.Ser917_Leu918insGlnThr)
c.349_350insAAACAC (p.Ser116_Leu117insGlnThr)
c.3317_3318insAAACAC (p.Pro1106_Pro1107insAsnThr)
n.3400_3401insAAACAC
n.3396_3397insAAACAC
16g.1208157T>ACA394172191CACNA1Hc.3299T>A (p.Leu1100His)
c.3260T>A (p.Leu1087His)
c.*2746T>A (n.*2746T>A)
c.2519T>A (p.Leu840His)
c.*1212T>A (n.*1212T>A)
c.2753T>A (p.Leu918His)
c.350T>A (p.Leu117His)
c.3318T>A (p.Pro1106=)
n.3401T>A
n.3397T>A
16g.1208157T>CCA394172194CACNA1Hc.3299T>C (p.Leu1100Pro)
c.3260T>C (p.Leu1087Pro)
c.*2746T>C (n.*2746T>C)
c.2519T>C (p.Leu840Pro)
c.*1212T>C (n.*1212T>C)
c.2753T>C (p.Leu918Pro)
c.350T>C (p.Leu117Pro)
c.3318T>C (p.Pro1106=)
n.3401T>C
n.3397T>C
 gnomAD v4
16g.1208157T>GCA394172195CACNA1Hc.3299T>G (p.Leu1100Arg)
c.3260T>G (p.Leu1087Arg)
c.*2746T>G (n.*2746T>G)
c.2519T>G (p.Leu840Arg)
c.*1212T>G (n.*1212T>G)
c.2753T>G (p.Leu918Arg)
c.350T>G (p.Leu117Arg)
c.3318T>G (p.Pro1106=)
n.3401T>G
n.3397T>G
16g.1208158C>ACA492892199CACNA1Hc.3300C>A (p.Leu1100=)
c.3261C>A (p.Leu1087=)
c.*2747C>A (n.*2747C>A)
c.2520C>A (p.Leu840=)
c.*1213C>A (n.*1213C>A)
c.2754C>A (p.Leu918=)
c.351C>A (p.Leu117=)
c.3319C>A (p.Pro1107Thr)
n.3402C>A
n.3398C>A
16g.1208158C=CA2201517673CACNA1Hc.3300C= (p.Leu1100=)
c.3261C= (p.Leu1087=)
c.*2747C= (n.*2747C=)
c.2520C= (p.Leu840=)
c.*1213C= (n.*1213C=)
c.2754C= (p.Leu918=)
c.351C= (p.Leu117=)
c.3319C= (p.Pro1107=)
n.3402C=
n.3398C=
16g.1208158C>GCA492892200CACNA1Hc.3300C>G (p.Leu1100=)
c.3261C>G (p.Leu1087=)
c.*2747C>G (n.*2747C>G)
c.2520C>G (p.Leu840=)
c.*1213C>G (n.*1213C>G)
c.2754C>G (p.Leu918=)
c.351C>G (p.Leu117=)
c.3319C>G (p.Pro1107Ala)
n.3402C>G
n.3398C>G
16g.1208158C>TCA7800711CACNA1Hc.3300C>T (p.Leu1100=)
c.3261C>T (p.Leu1087=)
c.*2747C>T (n.*2747C>T)
c.2520C>T (p.Leu840=)
c.*1213C>T (n.*1213C>T)
c.2754C>T (p.Leu918=)
c.351C>T (p.Leu117=)
c.3319C>T (p.Pro1107Ser)
n.3402C>T
n.3398C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208160delCA2630927082CACNA1Hc.3302del (p.Pro1101GlnfsTer?)
c.3263del (p.Pro1088GlnfsTer?)
c.*2749del (n.*2749del)
c.2522del (p.Pro841GlnfsTer?)
c.*1215del (n.*1215del)
c.2756del (p.Pro919GlnfsTer?)
c.353del (p.Pro118GlnfsTer?)
c.3321del (p.Arg1108AspfsTer?)
n.3404del
n.3400del
 gnomAD v4
16g.1208159C>ACA394172200CACNA1Hc.3301C>A (p.Pro1101Thr)
c.3262C>A (p.Pro1088Thr)
c.*2748C>A (n.*2748C>A)
c.2521C>A (p.Pro841Thr)
c.*1214C>A (n.*1214C>A)
c.2755C>A (p.Pro919Thr)
c.352C>A (p.Pro118Thr)
c.3320C>A (p.Pro1107His)
n.3403C>A
n.3399C>A
 gnomAD v4
16g.1208159C=CA2201517674CACNA1Hc.3301C= (p.Pro1101=)
c.3262C= (p.Pro1088=)
c.*2748C= (n.*2748C=)
c.2521C= (p.Pro841=)
c.*1214C= (n.*1214C=)
c.2755C= (p.Pro919=)
c.352C= (p.Pro118=)
c.3320C= (p.Pro1107=)
n.3403C=
n.3399C=
16g.1208159C>GCA394172203CACNA1Hc.3301C>G (p.Pro1101Ala)
c.3262C>G (p.Pro1088Ala)
c.*2748C>G (n.*2748C>G)
c.2521C>G (p.Pro841Ala)
c.*1214C>G (n.*1214C>G)
c.2755C>G (p.Pro919Ala)
c.352C>G (p.Pro118Ala)
c.3320C>G (p.Pro1107Arg)
n.3403C>G
n.3399C>G
16g.1208159C>TCA7800712CACNA1Hc.3301C>T (p.Pro1101Ser)
c.3262C>T (p.Pro1088Ser)
c.*2748C>T (n.*2748C>T)
c.2521C>T (p.Pro841Ser)
c.*1214C>T (n.*1214C>T)
c.2755C>T (p.Pro919Ser)
c.352C>T (p.Pro118Ser)
c.3320C>T (p.Pro1107Leu)
n.3403C>T
n.3399C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208160C>ACA394172216CACNA1Hc.3302C>A (p.Pro1101Gln)
c.3263C>A (p.Pro1088Gln)
c.*2749C>A (n.*2749C>A)
c.2522C>A (p.Pro841Gln)
c.*1215C>A (n.*1215C>A)
c.2756C>A (p.Pro919Gln)
c.353C>A (p.Pro118Gln)
c.3321C>A (p.Pro1107=)
n.3404C>A
n.3400C>A
 gnomAD v4
16g.1208160C>GCA394172218CACNA1Hc.3302C>G (p.Pro1101Arg)
c.3263C>G (p.Pro1088Arg)
c.*2749C>G (n.*2749C>G)
c.2522C>G (p.Pro841Arg)
c.*1215C>G (n.*1215C>G)
c.2756C>G (p.Pro919Arg)
c.353C>G (p.Pro118Arg)
c.3321C>G (p.Pro1107=)
n.3404C>G
n.3400C>G
16g.1208160C>TCA394172221CACNA1Hc.3302C>T (p.Pro1101Leu)
c.3263C>T (p.Pro1088Leu)
c.*2749C>T (n.*2749C>T)
c.2522C>T (p.Pro841Leu)
c.*1215C>T (n.*1215C>T)
c.2756C>T (p.Pro919Leu)
c.353C>T (p.Pro118Leu)
c.3321C>T (p.Pro1107=)
n.3404C>T
n.3400C>T
 gnomAD v4
16g.1208161_1208162insACACACA2805545538CACNA1Hc.3303_3304insACACA (p.Asp1102ThrfsTer?)
c.3264_3265insACACA (p.Asp1089ThrfsTer?)
c.*2750_*2751insACACA (n.*2750_*2751insACACA)
c.2523_2524insACACA (p.Asp842ThrfsTer?)
c.*1216_*1217insACACA (n.*1216_*1217insACACA)
c.2757_2758insACACA (p.Asp920ThrfsTer?)
c.354_355insACACA (p.Asp119ThrfsTer?)
c.3322_3323insACACA (p.Arg1108AsnfsTer?)
n.3405_3406insACACA
n.3401_3402insACACA
16g.1208161A>CCA492892202CACNA1Hc.3303A>C (p.Pro1101=)
c.3264A>C (p.Pro1088=)
c.*2750A>C (n.*2750A>C)
c.2523A>C (p.Pro841=)
c.*1216A>C (n.*1216A>C)
c.2757A>C (p.Pro919=)
c.354A>C (p.Pro118=)
c.3322A>C (p.Arg1108=)
n.3405A>C
n.3401A>C
16g.1208161A>GCA492892203CACNA1Hc.3303A>G (p.Pro1101=)
c.3264A>G (p.Pro1088=)
c.*2750A>G (n.*2750A>G)
c.2523A>G (p.Pro841=)
c.*1216A>G (n.*1216A>G)
c.2757A>G (p.Pro919=)
c.354A>G (p.Pro118=)
c.3322A>G (p.Arg1108Gly)
n.3405A>G
n.3401A>G
16g.1208161A>TCA492892204CACNA1Hc.3303A>T (p.Pro1101=)
c.3264A>T (p.Pro1088=)
c.*2750A>T (n.*2750A>T)
c.2523A>T (p.Pro841=)
c.*1216A>T (n.*1216A>T)
c.2757A>T (p.Pro919=)
c.354A>T (p.Pro118=)
c.3322A>T (p.Arg1108Ter)
n.3405A>T
n.3401A>T
16g.1208162G>ACA394172222CACNA1Hc.3304G>A (p.Asp1102Asn)
c.3265G>A (p.Asp1089Asn)
c.*2751G>A (n.*2751G>A)
c.2524G>A (p.Asp842Asn)
c.*1217G>A (n.*1217G>A)
c.2758G>A (p.Asp920Asn)
c.355G>A (p.Asp119Asn)
c.3323G>A (p.Arg1108Lys)
n.3406G>A
n.3402G>A
 ClinVar dbSNP gnomAD v4
16g.1208162G>CCA394172223CACNA1Hc.3304G>C (p.Asp1102His)
c.3265G>C (p.Asp1089His)
c.*2751G>C (n.*2751G>C)
c.2524G>C (p.Asp842His)
c.*1217G>C (n.*1217G>C)
c.2758G>C (p.Asp920His)
c.355G>C (p.Asp119His)
c.3323G>C (p.Arg1108Thr)
n.3406G>C
n.3402G>C
16g.1208162G=CA2201517675CACNA1Hc.3304G= (p.Asp1102=)
c.3265G= (p.Asp1089=)
c.*2751G= (n.*2751G=)
c.2524G= (p.Asp842=)
c.*1217G= (n.*1217G=)
c.2758G= (p.Asp920=)
c.355G= (p.Asp119=)
c.3323G= (p.Arg1108=)
n.3406G=
n.3402G=
16g.1208162G>TCA394172225CACNA1Hc.3304G>T (p.Asp1102Tyr)
c.3265G>T (p.Asp1089Tyr)
c.*2751G>T (n.*2751G>T)
c.2524G>T (p.Asp842Tyr)
c.*1217G>T (n.*1217G>T)
c.2758G>T (p.Asp920Tyr)
c.355G>T (p.Asp119Tyr)
c.3323G>T (p.Arg1108Ile)
n.3406G>T
n.3402G>T
 gnomAD v4
16g.1208163A=CA2201517676CACNA1Hc.3305A= (p.Asp1102=)
c.3266A= (p.Asp1089=)
c.*2752A= (n.*2752A=)
c.2525A= (p.Asp842=)
c.*1218A= (n.*1218A=)
c.2759A= (p.Asp920=)
c.356A= (p.Asp119=)
c.3324A= (p.Arg1108=)
n.3407A=
n.3403A=
16g.1208163A>CCA394172227CACNA1Hc.3305A>C (p.Asp1102Ala)
c.3266A>C (p.Asp1089Ala)
c.*2752A>C (n.*2752A>C)
c.2525A>C (p.Asp842Ala)
c.*1218A>C (n.*1218A>C)
c.2759A>C (p.Asp920Ala)
c.356A>C (p.Asp119Ala)
c.3324A>C (p.Arg1108Ser)
n.3407A>C
n.3403A>C
 gnomAD v4
16g.1208163A>GCA394172228CACNA1Hc.3305A>G (p.Asp1102Gly)
c.3266A>G (p.Asp1089Gly)
c.*2752A>G (n.*2752A>G)
c.2525A>G (p.Asp842Gly)
c.*1218A>G (n.*1218A>G)
c.2759A>G (p.Asp920Gly)
c.356A>G (p.Asp119Gly)
c.3324A>G (p.Arg1108=)
n.3407A>G
n.3403A>G
 dbSNP gnomAD v4
16g.1208163A>TCA394172231CACNA1Hc.3305A>T (p.Asp1102Val)
c.3266A>T (p.Asp1089Val)
c.*2752A>T (n.*2752A>T)
c.2525A>T (p.Asp842Val)
c.*1218A>T (n.*1218A>T)
c.2759A>T (p.Asp920Val)
c.356A>T (p.Asp119Val)
c.3324A>T (p.Arg1108Ser)
n.3407A>T
n.3403A>T
16g.1208164C>ACA394172233CACNA1Hc.3306C>A (p.Asp1102Glu)
c.3267C>A (p.Asp1089Glu)
c.*2753C>A (n.*2753C>A)
c.2526C>A (p.Asp842Glu)
c.*1219C>A (n.*1219C>A)
c.2760C>A (p.Asp920Glu)
c.357C>A (p.Asp119Glu)
c.3325C>A (p.Leu1109Ile)
n.3408C>A
n.3404C>A
 gnomAD v4
16g.1208164C=CA2201517677CACNA1Hc.3306C= (p.Asp1102=)
c.3267C= (p.Asp1089=)
c.*2753C= (n.*2753C=)
c.2526C= (p.Asp842=)
c.*1219C= (n.*1219C=)
c.2760C= (p.Asp920=)
c.357C= (p.Asp119=)
c.3325C= (p.Leu1109=)
n.3408C=
n.3404C=
16g.1208164C>GCA394172235CACNA1Hc.3306C>G (p.Asp1102Glu)
c.3267C>G (p.Asp1089Glu)
c.*2753C>G (n.*2753C>G)
c.2526C>G (p.Asp842Glu)
c.*1219C>G (n.*1219C>G)
c.2760C>G (p.Asp920Glu)
c.357C>G (p.Asp119Glu)
c.3325C>G (p.Leu1109Val)
n.3408C>G
n.3404C>G
 dbSNP gnomAD v4
16g.1208164C>TCA492892208CACNA1Hc.3306C>T (p.Asp1102=)
c.3267C>T (p.Asp1089=)
c.*2753C>T (n.*2753C>T)
c.2526C>T (p.Asp842=)
c.*1219C>T (n.*1219C>T)
c.2760C>T (p.Asp920=)
c.357C>T (p.Asp119=)
c.3325C>T (p.Leu1109Phe)
n.3408C>T
n.3404C>T
 dbSNP gnomAD v4
16g.1208167_1208168delCA2630927083CACNA1Hc.3309_3310del (p.Arg1104AlafsTer?)
c.3270_3271del (p.Arg1091AlafsTer?)
c.*2756_*2757del (n.*2756_*2757del)
c.2529_2530del (p.Arg844AlafsTer?)
c.*1222_*1223del (n.*1222_*1223del)
c.2763_2764del (p.Arg922AlafsTer?)
c.360_361del (p.Arg121AlafsTer?)
c.3328_3329del (p.Ser1110GlyfsTer19)
n.3411_3412del
n.3407_3408del
 gnomAD v4
16g.1208165T>ACA394172236CACNA1Hc.3307T>A (p.Ser1103Thr)
c.3268T>A (p.Ser1090Thr)
c.*2754T>A (n.*2754T>A)
c.2527T>A (p.Ser843Thr)
c.*1220T>A (n.*1220T>A)
c.2761T>A (p.Ser921Thr)
c.358T>A (p.Ser120Thr)
c.3326T>A (p.Leu1109His)
n.3409T>A
n.3405T>A
 dbSNP gnomAD v2 gnomAD v4
16g.1208165T>CCA276661956CACNA1Hc.3307T>C (p.Ser1103Pro)
c.3268T>C (p.Ser1090Pro)
c.*2754T>C (n.*2754T>C)
c.2527T>C (p.Ser843Pro)
c.*1220T>C (n.*1220T>C)
c.2761T>C (p.Ser921Pro)
c.358T>C (p.Ser120Pro)
c.3326T>C (p.Leu1109Pro)
n.3409T>C
n.3405T>C
 dbSNP gnomAD v3 gnomAD v4
16g.1208165T>GCA394172238CACNA1Hc.3307T>G (p.Ser1103Ala)
c.3268T>G (p.Ser1090Ala)
c.*2754T>G (n.*2754T>G)
c.2527T>G (p.Ser843Ala)
c.*1220T>G (n.*1220T>G)
c.2761T>G (p.Ser921Ala)
c.358T>G (p.Ser120Ala)
c.3326T>G (p.Leu1109Arg)
n.3409T>G
n.3405T>G
16g.1208165T=CA2201517678CACNA1Hc.3307T= (p.Ser1103=)
c.3268T= (p.Ser1090=)
c.*2754T= (n.*2754T=)
c.2527T= (p.Ser843=)
c.*1220T= (n.*1220T=)
c.2761T= (p.Ser921=)
c.358T= (p.Ser120=)
c.3326T= (p.Leu1109=)
n.3409T=
n.3405T=
16g.1208165_1208184delinsTCTCGGCGTGGCAGCAGCAGCA2201517679CACNA1Hc.3307_3326delinsTCTCGGCGTGGCAGCAGCAG (p.Ser1103=)
c.3268_3287delinsTCTCGGCGTGGCAGCAGCAG (p.Ser1090=)
c.*2754_*2773delinsTCTCGGCGTGGCAGCAGCAG (n.*2754_*2773delinsTCTCGGCGTGGCAGCAGCAG)
c.2527_2546delinsTCTCGGCGTGGCAGCAGCAG (p.Ser843=)
c.*1220_*1239delinsTCTCGGCGTGGCAGCAGCAG (n.*1220_*1239delinsTCTCGGCGTGGCAGCAGCAG)
c.2761_2780delinsTCTCGGCGTGGCAGCAGCAG (p.Ser921=)
c.358_377delinsTCTCGGCGTGGCAGCAGCAG (p.Ser120=)
c.3326_3345delinsTCTCGGCGTGGCAGCAGCAG (p.Leu1109=)
n.3409_3428delinsTCTCGGCGTGGCAGCAGCAG
n.3405_3424delinsTCTCGGCGTGGCAGCAGCAG
16g.1208166C>ACA394172241CACNA1Hc.3308C>A (p.Ser1103Tyr)
c.3269C>A (p.Ser1090Tyr)
c.*2755C>A (n.*2755C>A)
c.2528C>A (p.Ser843Tyr)
c.*1221C>A (n.*1221C>A)
c.2762C>A (p.Ser921Tyr)
c.359C>A (p.Ser120Tyr)
c.3327C>A (p.Leu1109=)
n.3410C>A
n.3406C>A
 dbSNP gnomAD v2 gnomAD v4
16g.1208166C=CA2201517681CACNA1Hc.3308C= (p.Ser1103=)
c.3269C= (p.Ser1090=)
c.*2755C= (n.*2755C=)
c.2528C= (p.Ser843=)
c.*1221C= (n.*1221C=)
c.2762C= (p.Ser921=)
c.359C= (p.Ser120=)
c.3327C= (p.Leu1109=)
n.3410C=
n.3406C=
16g.1208166C>GCA394172243CACNA1Hc.3308C>G (p.Ser1103Cys)
c.3269C>G (p.Ser1090Cys)
c.*2755C>G (n.*2755C>G)
c.2528C>G (p.Ser843Cys)
c.*1221C>G (n.*1221C>G)
c.2762C>G (p.Ser921Cys)
c.359C>G (p.Ser120Cys)
c.3327C>G (p.Leu1109=)
n.3410C>G
n.3406C>G
 dbSNP gnomAD v2 gnomAD v4
16g.1208166C>TCA276661957CACNA1Hc.3308C>T (p.Ser1103Phe)
c.3269C>T (p.Ser1090Phe)
c.*2755C>T (n.*2755C>T)
c.2528C>T (p.Ser843Phe)
c.*1221C>T (n.*1221C>T)
c.2762C>T (p.Ser921Phe)
c.359C>T (p.Ser120Phe)
c.3327C>T (p.Leu1109=)
n.3410C>T
n.3406C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208169_1208187delCA2201517680CACNA1Hc.3311_3329del (p.Arg1104ProfsTer?)
c.3272_3290del (p.Arg1091ProfsTer?)
c.*2758_*2776del (n.*2758_*2776del)
c.2531_2549del (p.Arg844ProfsTer?)
c.*1224_*1242del (n.*1224_*1242del)
c.2765_2783del (p.Arg922ProfsTer?)
c.362_380del (p.Arg121ProfsTer?)
c.3330_3348del (p.Ala1111GlyfsTer?)
n.3413_3431del
n.3409_3427del
 dbSNP
16g.1208167T>ACA492892209CACNA1Hc.3309T>A (p.Ser1103=)
c.3270T>A (p.Ser1090=)
c.*2756T>A (n.*2756T>A)
c.2529T>A (p.Ser843=)
c.*1222T>A (n.*1222T>A)
c.2763T>A (p.Ser921=)
c.360T>A (p.Ser120=)
c.3328T>A (p.Ser1110Thr)
n.3411T>A
n.3407T>A
16g.1208167T>CCA492892211CACNA1Hc.3309T>C (p.Ser1103=)
c.3270T>C (p.Ser1090=)
c.*2756T>C (n.*2756T>C)
c.2529T>C (p.Ser843=)
c.*1222T>C (n.*1222T>C)
c.2763T>C (p.Ser921=)
c.360T>C (p.Ser120=)
c.3328T>C (p.Ser1110Pro)
n.3411T>C
n.3407T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208167T>GCA492892212CACNA1Hc.3309T>G (p.Ser1103=)
c.3270T>G (p.Ser1090=)
c.*2756T>G (n.*2756T>G)
c.2529T>G (p.Ser843=)
c.*1222T>G (n.*1222T>G)
c.2763T>G (p.Ser921=)
c.360T>G (p.Ser120=)
c.3328T>G (p.Ser1110Ala)
n.3411T>G
n.3407T>G
16g.1208167T=CA2201517682CACNA1Hc.3309T= (p.Ser1103=)
c.3270T= (p.Ser1090=)
c.*2756T= (n.*2756T=)
c.2529T= (p.Ser843=)
c.*1222T= (n.*1222T=)
c.2763T= (p.Ser921=)
c.360T= (p.Ser120=)
c.3328T= (p.Ser1110=)
n.3411T=
n.3407T=
16g.1208167dupCA973686931CACNA1Hc.3309dup (p.Arg1104SerfsTer?)
c.3270dup (p.Arg1091SerfsTer?)
c.*2756dup (n.*2756dup)
c.2529dup (p.Arg844SerfsTer?)
c.*1222dup (n.*1222dup)
c.2763dup (p.Arg922SerfsTer?)
c.360dup (p.Arg121SerfsTer?)
c.3328dup (p.Ser1110PhefsTer20)
n.3411dup
n.3407dup
 dbSNP gnomAD v3 gnomAD v4
16g.1208168C>ACA492892213CACNA1Hc.3310C>A (p.Arg1104=)
c.3271C>A (p.Arg1091=)
c.*2757C>A (n.*2757C>A)
c.2530C>A (p.Arg844=)
c.*1223C>A (n.*1223C>A)
c.2764C>A (p.Arg922=)
c.361C>A (p.Arg121=)
c.3329C>A (p.Ser1110Ter)
n.3412C>A
n.3408C>A
 gnomAD v4
16g.1208168C=CA2201517683CACNA1Hc.3310C= (p.Arg1104=)
c.3271C= (p.Arg1091=)
c.*2757C= (n.*2757C=)
c.2530C= (p.Arg844=)
c.*1223C= (n.*1223C=)
c.2764C= (p.Arg922=)
c.361C= (p.Arg121=)
c.3329C= (p.Ser1110=)
n.3412C=
n.3408C=
16g.1208168C>GCA394172246CACNA1Hc.3310C>G (p.Arg1104Gly)
c.3271C>G (p.Arg1091Gly)
c.*2757C>G (n.*2757C>G)
c.2530C>G (p.Arg844Gly)
c.*1223C>G (n.*1223C>G)
c.2764C>G (p.Arg922Gly)
c.361C>G (p.Arg121Gly)
c.3329C>G (p.Ser1110Trp)
n.3412C>G
n.3408C>G
 dbSNP gnomAD v4
16g.1208168C>TCA394172248CACNA1Hc.3310C>T (p.Arg1104Trp)
c.3271C>T (p.Arg1091Trp)
c.*2757C>T (n.*2757C>T)
c.2530C>T (p.Arg844Trp)
c.*1223C>T (n.*1223C>T)
c.2764C>T (p.Arg922Trp)
c.361C>T (p.Arg121Trp)
c.3329C>T (p.Ser1110Leu)
n.3412C>T
n.3408C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208169G>ACA7800713CACNA1Hc.3311G>A (p.Arg1104Gln)
c.3272G>A (p.Arg1091Gln)
c.*2758G>A (n.*2758G>A)
c.2531G>A (p.Arg844Gln)
c.*1224G>A (n.*1224G>A)
c.2765G>A (p.Arg922Gln)
c.362G>A (p.Arg121Gln)
c.3330G>A (p.Ser1110=)
n.3413G>A
n.3409G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208169G>CCA394172251CACNA1Hc.3311G>C (p.Arg1104Pro)
c.3272G>C (p.Arg1091Pro)
c.*2758G>C (n.*2758G>C)
c.2531G>C (p.Arg844Pro)
c.*1224G>C (n.*1224G>C)
c.2765G>C (p.Arg922Pro)
c.362G>C (p.Arg121Pro)
c.3330G>C (p.Ser1110=)
n.3413G>C
n.3409G>C
16g.1208169G=CA2201517684CACNA1Hc.3311G= (p.Arg1104=)
c.3272G= (p.Arg1091=)
c.*2758G= (n.*2758G=)
c.2531G= (p.Arg844=)
c.*1224G= (n.*1224G=)
c.2765G= (p.Arg922=)
c.362G= (p.Arg121=)
c.3330G= (p.Ser1110=)
n.3413G=
n.3409G=
16g.1208169G>TCA394172253CACNA1Hc.3311G>T (p.Arg1104Leu)
c.3272G>T (p.Arg1091Leu)
c.*2758G>T (n.*2758G>T)
c.2531G>T (p.Arg844Leu)
c.*1224G>T (n.*1224G>T)
c.2765G>T (p.Arg922Leu)
c.362G>T (p.Arg121Leu)
c.3330G>T (p.Ser1110=)
n.3413G>T
n.3409G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208170G>ACA492892217CACNA1Hc.3312G>A (p.Arg1104=)
c.3273G>A (p.Arg1091=)
c.*2759G>A (n.*2759G>A)
c.2532G>A (p.Arg844=)
c.*1225G>A (n.*1225G>A)
c.2766G>A (p.Arg922=)
c.363G>A (p.Arg121=)
c.3331G>A (p.Ala1111Thr)
n.3414G>A
n.3410G>A
 ClinVar dbSNP gnomAD v4
16g.1208170G>CCA492892216CACNA1Hc.3312G>C (p.Arg1104=)
c.3273G>C (p.Arg1091=)
c.*2759G>C (n.*2759G>C)
c.2532G>C (p.Arg844=)
c.*1225G>C (n.*1225G>C)
c.2766G>C (p.Arg922=)
c.363G>C (p.Arg121=)
c.3331G>C (p.Ala1111Pro)
n.3414G>C
n.3410G>C
 dbSNP
16g.1208170G=CA2201517685CACNA1Hc.3312G= (p.Arg1104=)
c.3273G= (p.Arg1091=)
c.*2759G= (n.*2759G=)
c.2532G= (p.Arg844=)
c.*1225G= (n.*1225G=)
c.2766G= (p.Arg922=)
c.363G= (p.Arg121=)
c.3331G= (p.Ala1111=)
n.3414G=
n.3410G=
16g.1208170G>TCA492892215CACNA1Hc.3312G>T (p.Arg1104=)
c.3273G>T (p.Arg1091=)
c.*2759G>T (n.*2759G>T)
c.2532G>T (p.Arg844=)
c.*1225G>T (n.*1225G>T)
c.2766G>T (p.Arg922=)
c.363G>T (p.Arg121=)
c.3331G>T (p.Ala1111Ser)
n.3414G>T
n.3410G>T
 gnomAD v4
16g.1208171C>ACA394172256CACNA1Hc.3313C>A (p.Arg1105Ser)
c.3274C>A (p.Arg1092Ser)
c.*2760C>A (n.*2760C>A)
c.2533C>A (p.Arg845Ser)
c.*1226C>A (n.*1226C>A)
c.2767C>A (p.Arg923Ser)
c.364C>A (p.Arg122Ser)
c.3332C>A (p.Ala1111Glu)
n.3415C>A
n.3411C>A
 gnomAD v4
16g.1208171C=CA2201517686CACNA1Hc.3313C= (p.Arg1105=)
c.3274C= (p.Arg1092=)
c.*2760C= (n.*2760C=)
c.2533C= (p.Arg845=)
c.*1226C= (n.*1226C=)
c.2767C= (p.Arg923=)
c.364C= (p.Arg122=)
c.3332C= (p.Ala1111=)
n.3415C=
n.3411C=
16g.1208171C>GCA394172258CACNA1Hc.3313C>G (p.Arg1105Gly)
c.3274C>G (p.Arg1092Gly)
c.*2760C>G (n.*2760C>G)
c.2533C>G (p.Arg845Gly)
c.*1226C>G (n.*1226C>G)
c.2767C>G (p.Arg923Gly)
c.364C>G (p.Arg122Gly)
c.3332C>G (p.Ala1111Gly)
n.3415C>G
n.3411C>G
16g.1208171C>TCA7800714CACNA1Hc.3313C>T (p.Arg1105Cys)
c.3274C>T (p.Arg1092Cys)
c.*2760C>T (n.*2760C>T)
c.2533C>T (p.Arg845Cys)
c.*1226C>T (n.*1226C>T)
c.2767C>T (p.Arg923Cys)
c.364C>T (p.Arg122Cys)
c.3332C>T (p.Ala1111Val)
n.3415C>T
n.3411C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208172G>ACA7800715CACNA1Hc.3314G>A (p.Arg1105His)
c.3275G>A (p.Arg1092His)
c.*2761G>A (n.*2761G>A)
c.2534G>A (p.Arg845His)
c.*1227G>A (n.*1227G>A)
c.2768G>A (p.Arg923His)
c.365G>A (p.Arg122His)
c.3333G>A (p.Ala1111=)
n.3416G>A
n.3412G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208172G>CCA394172263CACNA1Hc.3314G>C (p.Arg1105Pro)
c.3275G>C (p.Arg1092Pro)
c.*2761G>C (n.*2761G>C)
c.2534G>C (p.Arg845Pro)
c.*1227G>C (n.*1227G>C)
c.2768G>C (p.Arg923Pro)
c.365G>C (p.Arg122Pro)
c.3333G>C (p.Ala1111=)
n.3416G>C
n.3412G>C
 dbSNP gnomAD v4
16g.1208172G=CA2201517687CACNA1Hc.3314G= (p.Arg1105=)
c.3275G= (p.Arg1092=)
c.*2761G= (n.*2761G=)
c.2534G= (p.Arg845=)
c.*1227G= (n.*1227G=)
c.2768G= (p.Arg923=)
c.365G= (p.Arg122=)
c.3333G= (p.Ala1111=)
n.3416G=
n.3412G=
16g.1208172G>TCA394172260CACNA1Hc.3314G>T (p.Arg1105Leu)
c.3275G>T (p.Arg1092Leu)
c.*2761G>T (n.*2761G>T)
c.2534G>T (p.Arg845Leu)
c.*1227G>T (n.*1227G>T)
c.2768G>T (p.Arg923Leu)
c.365G>T (p.Arg122Leu)
c.3333G>T (p.Ala1111=)
n.3416G>T
n.3412G>T
 dbSNP gnomAD v4
16g.1208173T>ACA492892219CACNA1Hc.3315T>A (p.Arg1105=)
c.3276T>A (p.Arg1092=)
c.*2762T>A (n.*2762T>A)
c.2535T>A (p.Arg845=)
c.*1228T>A (n.*1228T>A)
c.2769T>A (p.Arg923=)
c.366T>A (p.Arg122=)
c.3334T>A (p.Trp1112Arg)
n.3417T>A
n.3413T>A
16g.1208173T>CCA492892221CACNA1Hc.3315T>C (p.Arg1105=)
c.3276T>C (p.Arg1092=)
c.*2762T>C (n.*2762T>C)
c.2535T>C (p.Arg845=)
c.*1228T>C (n.*1228T>C)
c.2769T>C (p.Arg923=)
c.366T>C (p.Arg122=)
c.3334T>C (p.Trp1112Arg)
n.3417T>C
n.3413T>C
 gnomAD v4
16g.1208173T>GCA492892222CACNA1Hc.3315T>G (p.Arg1105=)
c.3276T>G (p.Arg1092=)
c.*2762T>G (n.*2762T>G)
c.2535T>G (p.Arg845=)
c.*1228T>G (n.*1228T>G)
c.2769T>G (p.Arg923=)
c.366T>G (p.Arg122=)
c.3334T>G (p.Trp1112Gly)
n.3417T>G
n.3413T>G
16g.1208173T=CA2201517688CACNA1Hc.3315T= (p.Arg1105=)
c.3276T= (p.Arg1092=)
c.*2762T= (n.*2762T=)
c.2535T= (p.Arg845=)
c.*1228T= (n.*1228T=)
c.2769T= (p.Arg923=)
c.366T= (p.Arg122=)
c.3334T= (p.Trp1112=)
n.3417T=
n.3413T=
16g.1208174G>ACA394172267CACNA1Hc.3316G>A (p.Gly1106Ser)
c.3277G>A (p.Gly1093Ser)
c.*2763G>A (n.*2763G>A)
c.2536G>A (p.Gly846Ser)
c.*1229G>A (n.*1229G>A)
c.2770G>A (p.Gly924Ser)
c.367G>A (p.Gly123Ser)
c.3335G>A (p.Trp1112Ter)
n.3418G>A
n.3414G>A
 gnomAD v4
16g.1208174G>CCA394172269CACNA1Hc.3316G>C (p.Gly1106Arg)
c.3277G>C (p.Gly1093Arg)
c.*2763G>C (n.*2763G>C)
c.2536G>C (p.Gly846Arg)
c.*1229G>C (n.*1229G>C)
c.2770G>C (p.Gly924Arg)
c.367G>C (p.Gly123Arg)
c.3335G>C (p.Trp1112Ser)
n.3418G>C
n.3414G>C
16g.1208174G>TCA394172271CACNA1Hc.3316G>T (p.Gly1106Cys)
c.3277G>T (p.Gly1093Cys)
c.*2763G>T (n.*2763G>T)
c.2536G>T (p.Gly846Cys)
c.*1229G>T (n.*1229G>T)
c.2770G>T (p.Gly924Cys)
c.367G>T (p.Gly123Cys)
c.3335G>T (p.Trp1112Leu)
n.3418G>T
n.3414G>T
16g.1208174_1208176dupCA7800716CACNA1Hc.3316_3318dup (p.Gly1106_Ser1107insGly)
c.3277_3279dup (p.Gly1093_Ser1094insGly)
c.*2763_*2765dup (n.*2763_*2765dup)
c.2536_2538dup (p.Gly846_Ser847insGly)
c.*1229_*1231dup (n.*1229_*1231dup)
c.2770_2772dup (p.Gly924_Ser925insGly)
c.367_369dup (p.Gly123_Ser124insGly)
c.3335_3337dup (p.Trp1112_Gln1113insArg)
n.3418_3420dup
n.3414_3416dup
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208174_1208177delinsGGCACA2201517689CACNA1Hc.3316_3319delinsGGCA (p.Gly1106=)
c.3277_3280delinsGGCA (p.Gly1093=)
c.*2763_*2766delinsGGCA (n.*2763_*2766delinsGGCA)
c.2536_2539delinsGGCA (p.Gly846=)
c.*1229_*1232delinsGGCA (n.*1229_*1232delinsGGCA)
c.2770_2773delinsGGCA (p.Gly924=)
c.367_370delinsGGCA (p.Gly123=)
c.3335_3338delinsGGCA (p.Trp1112=)
n.3418_3421delinsGGCA
n.3414_3417delinsGGCA
16g.1208175G>ACA394172274CACNA1Hc.3317G>A (p.Gly1106Asp)
c.3278G>A (p.Gly1093Asp)
c.*2764G>A (n.*2764G>A)
c.2537G>A (p.Gly846Asp)
c.*1230G>A (n.*1230G>A)
c.2771G>A (p.Gly924Asp)
c.368G>A (p.Gly123Asp)
c.3336G>A (p.Trp1112Ter)
n.3419G>A
n.3415G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.1208175G>CCA394172276CACNA1Hc.3317G>C (p.Gly1106Ala)
c.3278G>C (p.Gly1093Ala)
c.*2764G>C (n.*2764G>C)
c.2537G>C (p.Gly846Ala)
c.*1230G>C (n.*1230G>C)
c.2771G>C (p.Gly924Ala)
c.368G>C (p.Gly123Ala)
c.3336G>C (p.Trp1112Cys)
n.3419G>C
n.3415G>C
16g.1208175G=CA2201517691CACNA1Hc.3317G= (p.Gly1106=)
c.3278G= (p.Gly1093=)
c.*2764G= (n.*2764G=)
c.2537G= (p.Gly846=)
c.*1230G= (n.*1230G=)
c.2771G= (p.Gly924=)
c.368G= (p.Gly123=)
c.3336G= (p.Trp1112=)
n.3419G=
n.3415G=
16g.1208175G>TCA394172279CACNA1Hc.3317G>T (p.Gly1106Val)
c.3278G>T (p.Gly1093Val)
c.*2764G>T (n.*2764G>T)
c.2537G>T (p.Gly846Val)
c.*1230G>T (n.*1230G>T)
c.2771G>T (p.Gly924Val)
c.368G>T (p.Gly123Val)
c.3336G>T (p.Trp1112Cys)
n.3419G>T
n.3415G>T
16g.1208183_1208185dupCA2201517690CACNA1Hc.3325_3327dup (p.Ser1109_Ser1110insSer)
c.3286_3288dup (p.Ser1096_Ser1097insSer)
c.*2772_*2774dup (n.*2772_*2774dup)
c.2545_2547dup (p.Ser849_Ser850insSer)
c.*1238_*1240dup (n.*1238_*1240dup)
c.2779_2781dup (p.Ser927_Ser928insSer)
c.376_378dup (p.Ser126_Ser127insSer)
c.3344_3346dup (p.Gln1115_Leu1116insGln)
n.3427_3429dup
n.3423_3425dup
 dbSNP
16g.1208183_1208185delCA620697722CACNA1Hc.3325_3327del (p.Ser1109del)
c.3286_3288del (p.Ser1096del)
c.*2772_*2774del (n.*2772_*2774del)
c.2545_2547del (p.Ser849del)
c.*1238_*1240del (n.*1238_*1240del)
c.2779_2781del (p.Ser927del)
c.376_378del (p.Ser126del)
c.3344_3346del (p.Gln1115del)
n.3427_3429del
n.3423_3425del
 dbSNP gnomAD v2 gnomAD v4
16g.1208176C>ACA492892224CACNA1Hc.3318C>A (p.Gly1106=)
c.3279C>A (p.Gly1093=)
c.*2765C>A (n.*2765C>A)
c.2538C>A (p.Gly846=)
c.*1231C>A (n.*1231C>A)
c.2772C>A (p.Gly924=)
c.369C>A (p.Gly123=)
c.3337C>A (p.Gln1113Lys)
n.3420C>A
n.3416C>A
 gnomAD v4
16g.1208176C=CA2201517692CACNA1Hc.3318C= (p.Gly1106=)
c.3279C= (p.Gly1093=)
c.*2765C= (n.*2765C=)
c.2538C= (p.Gly846=)
c.*1231C= (n.*1231C=)
c.2772C= (p.Gly924=)
c.369C= (p.Gly123=)
c.3337C= (p.Gln1113=)
n.3420C=
n.3416C=
16g.1208176C>GCA492892226CACNA1Hc.3318C>G (p.Gly1106=)
c.3279C>G (p.Gly1093=)
c.*2765C>G (n.*2765C>G)
c.2538C>G (p.Gly846=)
c.*1231C>G (n.*1231C>G)
c.2772C>G (p.Gly924=)
c.369C>G (p.Gly123=)
c.3337C>G (p.Gln1113Glu)
n.3420C>G
n.3416C>G
16g.1208176C>TCA492892227CACNA1Hc.3318C>T (p.Gly1106=)
c.3279C>T (p.Gly1093=)
c.*2765C>T (n.*2765C>T)
c.2538C>T (p.Gly846=)
c.*1231C>T (n.*1231C>T)
c.2772C>T (p.Gly924=)
c.369C>T (p.Gly123=)
c.3337C>T (p.Gln1113Ter)
n.3420C>T
n.3416C>T
 dbSNP
16g.1208177A=CA2201517693CACNA1Hc.3319A= (p.Ser1107=)
c.3280A= (p.Ser1094=)
c.*2766A= (n.*2766A=)
c.2539A= (p.Ser847=)
c.*1232A= (n.*1232A=)
c.2773A= (p.Ser925=)
c.370A= (p.Ser124=)
c.3338A= (p.Gln1113=)
n.3421A=
n.3417A=
16g.1208177A>CCA394172281CACNA1Hc.3319A>C (p.Ser1107Arg)
c.3280A>C (p.Ser1094Arg)
c.*2766A>C (n.*2766A>C)
c.2539A>C (p.Ser847Arg)
c.*1232A>C (n.*1232A>C)
c.2773A>C (p.Ser925Arg)
c.370A>C (p.Ser124Arg)
c.3338A>C (p.Gln1113Pro)
n.3421A>C
n.3417A>C
16g.1208177A>GCA394172282CACNA1Hc.3319A>G (p.Ser1107Gly)
c.3280A>G (p.Ser1094Gly)
c.*2766A>G (n.*2766A>G)
c.2539A>G (p.Ser847Gly)
c.*1232A>G (n.*1232A>G)
c.2773A>G (p.Ser925Gly)
c.370A>G (p.Ser124Gly)
c.3338A>G (p.Gln1113Arg)
n.3421A>G
n.3417A>G
 dbSNP gnomAD v3 gnomAD v4
16g.1208177A>TCA394172284CACNA1Hc.3319A>T (p.Ser1107Cys)
c.3280A>T (p.Ser1094Cys)
c.*2766A>T (n.*2766A>T)
c.2539A>T (p.Ser847Cys)
c.*1232A>T (n.*1232A>T)
c.2773A>T (p.Ser925Cys)
c.370A>T (p.Ser124Cys)
c.3338A>T (p.Gln1113Leu)
n.3421A>T
n.3417A>T
16g.1208178G>ACA394172286CACNA1Hc.3320G>A (p.Ser1107Asn)
c.3281G>A (p.Ser1094Asn)
c.*2767G>A (n.*2767G>A)
c.2540G>A (p.Ser847Asn)
c.*1233G>A (n.*1233G>A)
c.2774G>A (p.Ser925Asn)
c.371G>A (p.Ser124Asn)
c.3339G>A (p.Gln1113=)
n.3422G>A
n.3418G>A
 dbSNP gnomAD v2 gnomAD v4
16g.1208178G>CCA394172288CACNA1Hc.3320G>C (p.Ser1107Thr)
c.3281G>C (p.Ser1094Thr)
c.*2767G>C (n.*2767G>C)
c.2540G>C (p.Ser847Thr)
c.*1233G>C (n.*1233G>C)
c.2774G>C (p.Ser925Thr)
c.371G>C (p.Ser124Thr)
c.3339G>C (p.Gln1113His)
n.3422G>C
n.3418G>C
16g.1208178G=CA2201517694CACNA1Hc.3320G= (p.Ser1107=)
c.3281G= (p.Ser1094=)
c.*2767G= (n.*2767G=)
c.2540G= (p.Ser847=)
c.*1233G= (n.*1233G=)
c.2774G= (p.Ser925=)
c.371G= (p.Ser124=)
c.3339G= (p.Gln1113=)
n.3422G=
n.3418G=
16g.1208178G>TCA394172292CACNA1Hc.3320G>T (p.Ser1107Ile)
c.3281G>T (p.Ser1094Ile)
c.*2767G>T (n.*2767G>T)
c.2540G>T (p.Ser847Ile)
c.*1233G>T (n.*1233G>T)
c.2774G>T (p.Ser925Ile)
c.371G>T (p.Ser124Ile)
c.3339G>T (p.Gln1113His)
n.3422G>T
n.3418G>T
16g.1208179C>ACA394172294CACNA1Hc.3321C>A (p.Ser1107Arg)
c.3282C>A (p.Ser1094Arg)
c.*2768C>A (n.*2768C>A)
c.2541C>A (p.Ser847Arg)
c.*1234C>A (n.*1234C>A)
c.2775C>A (p.Ser925Arg)
c.372C>A (p.Ser124Arg)
c.3340C>A (p.Gln1114Lys)
n.3423C>A
n.3419C>A
16g.1208179C>GCA394172295CACNA1Hc.3321C>G (p.Ser1107Arg)
c.3282C>G (p.Ser1094Arg)
c.*2768C>G (n.*2768C>G)
c.2541C>G (p.Ser847Arg)
c.*1234C>G (n.*1234C>G)
c.2775C>G (p.Ser925Arg)
c.372C>G (p.Ser124Arg)
c.3340C>G (p.Gln1114Glu)
n.3423C>G
n.3419C>G
16g.1208179C>TCA492892229CACNA1Hc.3321C>T (p.Ser1107=)
c.3282C>T (p.Ser1094=)
c.*2768C>T (n.*2768C>T)
c.2541C>T (p.Ser847=)
c.*1234C>T (n.*1234C>T)
c.2775C>T (p.Ser925=)
c.372C>T (p.Ser124=)
c.3340C>T (p.Gln1114Ter)
n.3423C>T
n.3419C>T
 gnomAD v4
16g.1208180A=CA2201517695CACNA1Hc.3322A= (p.Ser1108=)
c.3283A= (p.Ser1095=)
c.*2769A= (n.*2769A=)
c.2542A= (p.Ser848=)
c.*1235A= (n.*1235A=)
c.2776A= (p.Ser926=)
c.373A= (p.Ser125=)
c.3341A= (p.Gln1114=)
n.3424A=
n.3420A=
16g.1208180A>CCA394172297CACNA1Hc.3322A>C (p.Ser1108Arg)
c.3283A>C (p.Ser1095Arg)
c.*2769A>C (n.*2769A>C)
c.2542A>C (p.Ser848Arg)
c.*1235A>C (n.*1235A>C)
c.2776A>C (p.Ser926Arg)
c.373A>C (p.Ser125Arg)
c.3341A>C (p.Gln1114Pro)
n.3424A>C
n.3420A>C
16g.1208180A>GCA394172301CACNA1Hc.3322A>G (p.Ser1108Gly)
c.3283A>G (p.Ser1095Gly)
c.*2769A>G (n.*2769A>G)
c.2542A>G (p.Ser848Gly)
c.*1235A>G (n.*1235A>G)
c.2776A>G (p.Ser926Gly)
c.373A>G (p.Ser125Gly)
c.3341A>G (p.Gln1114Arg)
n.3424A>G
n.3420A>G
 dbSNP gnomAD v3 gnomAD v4
16g.1208180A>TCA394172298CACNA1Hc.3322A>T (p.Ser1108Cys)
c.3283A>T (p.Ser1095Cys)
c.*2769A>T (n.*2769A>T)
c.2542A>T (p.Ser848Cys)
c.*1235A>T (n.*1235A>T)
c.2776A>T (p.Ser926Cys)
c.373A>T (p.Ser125Cys)
c.3341A>T (p.Gln1114Leu)
n.3424A>T
n.3420A>T
16g.1208181G>ACA394172304CACNA1Hc.3323G>A (p.Ser1108Asn)
c.3284G>A (p.Ser1095Asn)
c.*2770G>A (n.*2770G>A)
c.2543G>A (p.Ser848Asn)
c.*1236G>A (n.*1236G>A)
c.2777G>A (p.Ser926Asn)
c.374G>A (p.Ser125Asn)
c.3342G>A (p.Gln1114=)
n.3425G>A
n.3421G>A
 dbSNP gnomAD v2 gnomAD v4
16g.1208181G>CCA394172308CACNA1Hc.3323G>C (p.Ser1108Thr)
c.3284G>C (p.Ser1095Thr)
c.*2770G>C (n.*2770G>C)
c.2543G>C (p.Ser848Thr)
c.*1236G>C (n.*1236G>C)
c.2777G>C (p.Ser926Thr)
c.374G>C (p.Ser125Thr)
c.3342G>C (p.Gln1114His)
n.3425G>C
n.3421G>C
16g.1208181G=CA2201517696CACNA1Hc.3323G= (p.Ser1108=)
c.3284G= (p.Ser1095=)
c.*2770G= (n.*2770G=)
c.2543G= (p.Ser848=)
c.*1236G= (n.*1236G=)
c.2777G= (p.Ser926=)
c.374G= (p.Ser125=)
c.3342G= (p.Gln1114=)
n.3425G=
n.3421G=
16g.1208181G>TCA394172306CACNA1Hc.3323G>T (p.Ser1108Ile)
c.3284G>T (p.Ser1095Ile)
c.*2770G>T (n.*2770G>T)
c.2543G>T (p.Ser848Ile)
c.*1236G>T (n.*1236G>T)
c.2777G>T (p.Ser926Ile)
c.374G>T (p.Ser125Ile)
c.3342G>T (p.Gln1114His)
n.3425G>T
n.3421G>T
 gnomAD v4
16g.1208182C>ACA394172311CACNA1Hc.3324C>A (p.Ser1108Arg)
c.3285C>A (p.Ser1095Arg)
c.*2771C>A (n.*2771C>A)
c.2544C>A (p.Ser848Arg)
c.*1237C>A (n.*1237C>A)
c.2778C>A (p.Ser926Arg)
c.375C>A (p.Ser125Arg)
c.3343C>A (p.Gln1115Lys)
n.3426C>A
n.3422C>A
 gnomAD v4
16g.1208182C>GCA394172313CACNA1Hc.3324C>G (p.Ser1108Arg)
c.3285C>G (p.Ser1095Arg)
c.*2771C>G (n.*2771C>G)
c.2544C>G (p.Ser848Arg)
c.*1237C>G (n.*1237C>G)
c.2778C>G (p.Ser926Arg)
c.375C>G (p.Ser125Arg)
c.3343C>G (p.Gln1115Glu)
n.3426C>G
n.3422C>G
16g.1208182C>TCA492892232CACNA1Hc.3324C>T (p.Ser1108=)
c.3285C>T (p.Ser1095=)
c.*2771C>T (n.*2771C>T)
c.2544C>T (p.Ser848=)
c.*1237C>T (n.*1237C>T)
c.2778C>T (p.Ser926=)
c.375C>T (p.Ser125=)
c.3343C>T (p.Gln1115Ter)
n.3426C>T
n.3422C>T
 gnomAD v4
16g.1208183A>CCA394172315CACNA1Hc.3325A>C (p.Ser1109Arg)
c.3286A>C (p.Ser1096Arg)
c.*2772A>C (n.*2772A>C)
c.2545A>C (p.Ser849Arg)
c.*1238A>C (n.*1238A>C)
c.2779A>C (p.Ser927Arg)
c.376A>C (p.Ser126Arg)
c.3344A>C (p.Gln1115Pro)
n.3427A>C
n.3423A>C
16g.1208183A>GCA394172317CACNA1Hc.3325A>G (p.Ser1109Gly)
c.3286A>G (p.Ser1096Gly)
c.*2772A>G (n.*2772A>G)
c.2545A>G (p.Ser849Gly)
c.*1238A>G (n.*1238A>G)
c.2779A>G (p.Ser927Gly)
c.376A>G (p.Ser126Gly)
c.3344A>G (p.Gln1115Arg)
n.3427A>G
n.3423A>G
16g.1208183A>TCA394172318CACNA1Hc.3325A>T (p.Ser1109Cys)
c.3286A>T (p.Ser1096Cys)
c.*2772A>T (n.*2772A>T)
c.2545A>T (p.Ser849Cys)
c.*1238A>T (n.*1238A>T)
c.2779A>T (p.Ser927Cys)
c.376A>T (p.Ser126Cys)
c.3344A>T (p.Gln1115Leu)
n.3427A>T
n.3423A>T
16g.1208184G>ACA394172320CACNA1Hc.3326G>A (p.Ser1109Asn)
c.3287G>A (p.Ser1096Asn)
c.*2773G>A (n.*2773G>A)
c.2546G>A (p.Ser849Asn)
c.*1239G>A (n.*1239G>A)
c.2780G>A (p.Ser927Asn)
c.377G>A (p.Ser126Asn)
c.3345G>A (p.Gln1115=)
n.3428G>A
n.3424G>A
16g.1208184G>CCA394172322CACNA1Hc.3326G>C (p.Ser1109Thr)
c.3287G>C (p.Ser1096Thr)
c.*2773G>C (n.*2773G>C)
c.2546G>C (p.Ser849Thr)
c.*1239G>C (n.*1239G>C)
c.2780G>C (p.Ser927Thr)
c.377G>C (p.Ser126Thr)
c.3345G>C (p.Gln1115His)
n.3428G>C
n.3424G>C
 dbSNP gnomAD v3 gnomAD v4
16g.1208184G=CA2201517697CACNA1Hc.3326G= (p.Ser1109=)
c.3287G= (p.Ser1096=)
c.*2773G= (n.*2773G=)
c.2546G= (p.Ser849=)
c.*1239G= (n.*1239G=)
c.2780G= (p.Ser927=)
c.377G= (p.Ser126=)
c.3345G= (p.Gln1115=)
n.3428G=
n.3424G=
16g.1208184G>TCA394172324CACNA1Hc.3326G>T (p.Ser1109Ile)
c.3287G>T (p.Ser1096Ile)
c.*2773G>T (n.*2773G>T)
c.2546G>T (p.Ser849Ile)
c.*1239G>T (n.*1239G>T)
c.2780G>T (p.Ser927Ile)
c.377G>T (p.Ser126Ile)
c.3345G>T (p.Gln1115His)
n.3428G>T
n.3424G>T
16g.1208185C>ACA394172326CACNA1Hc.3327C>A (p.Ser1109Arg)
c.3288C>A (p.Ser1096Arg)
c.*2774C>A (n.*2774C>A)
c.2547C>A (p.Ser849Arg)
c.*1240C>A (n.*1240C>A)
c.2781C>A (p.Ser927Arg)
c.378C>A (p.Ser126Arg)
c.3346C>A (p.Leu1116Ile)
n.3429C>A
n.3425C>A
 gnomAD v4
16g.1208185C=CA2201517698CACNA1Hc.3327C= (p.Ser1109=)
c.3288C= (p.Ser1096=)
c.*2774C= (n.*2774C=)
c.2547C= (p.Ser849=)
c.*1240C= (n.*1240C=)
c.2781C= (p.Ser927=)
c.378C= (p.Ser126=)
c.3346C= (p.Leu1116=)
n.3429C=
n.3425C=
16g.1208185C>GCA394172327CACNA1Hc.3327C>G (p.Ser1109Arg)
c.3288C>G (p.Ser1096Arg)
c.*2774C>G (n.*2774C>G)
c.2547C>G (p.Ser849Arg)
c.*1240C>G (n.*1240C>G)
c.2781C>G (p.Ser927Arg)
c.378C>G (p.Ser126Arg)
c.3346C>G (p.Leu1116Val)
n.3429C>G
n.3425C>G
16g.1208185C>TCA7800717CACNA1Hc.3327C>T (p.Ser1109=)
c.3288C>T (p.Ser1096=)
c.*2774C>T (n.*2774C>T)
c.2547C>T (p.Ser849=)
c.*1240C>T (n.*1240C>T)
c.2781C>T (p.Ser927=)
c.378C>T (p.Ser126=)
c.3346C>T (p.Leu1116Phe)
n.3429C>T
n.3425C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208186T>ACA394172329CACNA1Hc.3328T>A (p.Ser1110Thr)
c.3289T>A (p.Ser1097Thr)
c.*2775T>A (n.*2775T>A)
c.2548T>A (p.Ser850Thr)
c.*1241T>A (n.*1241T>A)
c.2782T>A (p.Ser928Thr)
c.379T>A (p.Ser127Thr)
c.3347T>A (p.Leu1116His)
n.3430T>A
n.3426T>A
16g.1208186T>CCA394172331CACNA1Hc.3328T>C (p.Ser1110Pro)
c.3289T>C (p.Ser1097Pro)
c.*2775T>C (n.*2775T>C)
c.2548T>C (p.Ser850Pro)
c.*1241T>C (n.*1241T>C)
c.2782T>C (p.Ser928Pro)
c.379T>C (p.Ser127Pro)
c.3347T>C (p.Leu1116Pro)
n.3430T>C
n.3426T>C
 gnomAD v4
16g.1208186T>GCA394172334CACNA1Hc.3328T>G (p.Ser1110Ala)
c.3289T>G (p.Ser1097Ala)
c.*2775T>G (n.*2775T>G)
c.2548T>G (p.Ser850Ala)
c.*1241T>G (n.*1241T>G)
c.2782T>G (p.Ser928Ala)
c.379T>G (p.Ser127Ala)
c.3347T>G (p.Leu1116Arg)
n.3430T>G
n.3426T>G
 gnomAD v4
16g.1208187C>ACA394172341CACNA1Hc.3329C>A (p.Ser1110Tyr)
c.3290C>A (p.Ser1097Tyr)
c.*2776C>A (n.*2776C>A)
c.2549C>A (p.Ser850Tyr)
c.*1242C>A (n.*1242C>A)
c.2783C>A (p.Ser928Tyr)
c.380C>A (p.Ser127Tyr)
c.3348C>A (p.Leu1116=)
n.3431C>A
n.3427C>A
16g.1208187C=CA2201517699CACNA1Hc.3329C= (p.Ser1110=)
c.3290C= (p.Ser1097=)
c.*2776C= (n.*2776C=)
c.2549C= (p.Ser850=)
c.*1242C= (n.*1242C=)
c.2783C= (p.Ser928=)
c.380C= (p.Ser127=)
c.3348C= (p.Leu1116=)
n.3431C=
n.3427C=
16g.1208187C>GCA394172337CACNA1Hc.3329C>G (p.Ser1110Cys)
c.3290C>G (p.Ser1097Cys)
c.*2776C>G (n.*2776C>G)
c.2549C>G (p.Ser850Cys)
c.*1242C>G (n.*1242C>G)
c.2783C>G (p.Ser928Cys)
c.380C>G (p.Ser127Cys)
c.3348C>G (p.Leu1116=)
n.3431C>G
n.3427C>G
 dbSNP gnomAD v3 gnomAD v4
16g.1208187C>TCA394172336CACNA1Hc.3329C>T (p.Ser1110Phe)
c.3290C>T (p.Ser1097Phe)
c.*2776C>T (n.*2776C>T)
c.2549C>T (p.Ser850Phe)
c.*1242C>T (n.*1242C>T)
c.2783C>T (p.Ser928Phe)
c.380C>T (p.Ser127Phe)
c.3348C>T (p.Leu1116=)
n.3431C>T
n.3427C>T
 dbSNP gnomAD v4
16g.1208188C>ACA492892234CACNA1Hc.3330C>A (p.Ser1110=)
c.3291C>A (p.Ser1097=)
c.*2777C>A (n.*2777C>A)
c.2550C>A (p.Ser850=)
c.*1243C>A (n.*1243C>A)
c.2784C>A (p.Ser928=)
c.381C>A (p.Ser127=)
c.3349C>A (p.Arg1117=)
n.3432C>A
n.3428C>A
 gnomAD v4
16g.1208188C=CA2201517700CACNA1Hc.3330C= (p.Ser1110=)
c.3291C= (p.Ser1097=)
c.*2777C= (n.*2777C=)
c.2550C= (p.Ser850=)
c.*1243C= (n.*1243C=)
c.2784C= (p.Ser928=)
c.381C= (p.Ser127=)
c.3349C= (p.Arg1117=)
n.3432C=
n.3428C=
16g.1208188C>GCA492892235CACNA1Hc.3330C>G (p.Ser1110=)
c.3291C>G (p.Ser1097=)
c.*2777C>G (n.*2777C>G)
c.2550C>G (p.Ser850=)
c.*1243C>G (n.*1243C>G)
c.2784C>G (p.Ser928=)
c.381C>G (p.Ser127=)
c.3349C>G (p.Arg1117Gly)
n.3432C>G
n.3428C>G
 dbSNP gnomAD v4
16g.1208188C>TCA7800718CACNA1Hc.3330C>T (p.Ser1110=)
c.3291C>T (p.Ser1097=)
c.*2777C>T (n.*2777C>T)
c.2550C>T (p.Ser850=)
c.*1243C>T (n.*1243C>T)
c.2784C>T (p.Ser928=)
c.381C>T (p.Ser127=)
c.3349C>T (p.Arg1117Trp)
n.3432C>T
n.3428C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208189G>ACA7800719CACNA1Hc.3331G>A (p.Gly1111Arg)
c.3292G>A (p.Gly1098Arg)
c.*2778G>A (n.*2778G>A)
c.2551G>A (p.Gly851Arg)
c.*1244G>A (n.*1244G>A)
c.2785G>A (p.Gly929Arg)
c.382G>A (p.Gly128Arg)
c.3350G>A (p.Arg1117Gln)
n.3433G>A
n.3429G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208189G>CCA7800720CACNA1Hc.3331G>C (p.Gly1111Arg)
c.3292G>C (p.Gly1098Arg)
c.*2778G>C (n.*2778G>C)
c.2551G>C (p.Gly851Arg)
c.*1244G>C (n.*1244G>C)
c.2785G>C (p.Gly929Arg)
c.382G>C (p.Gly128Arg)
c.3350G>C (p.Arg1117Pro)
n.3433G>C
n.3429G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208189G=CA2201517701CACNA1Hc.3331G= (p.Gly1111=)
c.3292G= (p.Gly1098=)
c.*2778G= (n.*2778G=)
c.2551G= (p.Gly851=)
c.*1244G= (n.*1244G=)
c.2785G= (p.Gly929=)
c.382G= (p.Gly128=)
c.3350G= (p.Arg1117=)
n.3433G=
n.3429G=
16g.1208189G>TCA394172344CACNA1Hc.3331G>T (p.Gly1111Trp)
c.3292G>T (p.Gly1098Trp)
c.*2778G>T (n.*2778G>T)
c.2551G>T (p.Gly851Trp)
c.*1244G>T (n.*1244G>T)
c.2785G>T (p.Gly929Trp)
c.382G>T (p.Gly128Trp)
c.3350G>T (p.Arg1117Leu)
n.3433G>T
n.3429G>T
 gnomAD v4
16g.1208192delCA2575881719CACNA1Hc.3334del (p.Asp1112ThrfsTer?)
c.3295del (p.Asp1099ThrfsTer?)
c.*2781del (n.*2781del)
c.2554del (p.Asp852ThrfsTer?)
c.*1247del (n.*1247del)
c.2788del (p.Asp930ThrfsTer?)
c.385del (p.Asp129ThrfsTer?)
c.3353del (p.Gly1118AspfsTer?)
n.3436del
n.3432del
 gnomAD v4
16g.1208190G>ACA394172346CACNA1Hc.3332G>A (p.Gly1111Glu)
c.3293G>A (p.Gly1098Glu)
c.*2779G>A (n.*2779G>A)
c.2552G>A (p.Gly851Glu)
c.*1245G>A (n.*1245G>A)
c.2786G>A (p.Gly929Glu)
c.383G>A (p.Gly128Glu)
c.3351G>A (p.Arg1117=)
n.3434G>A
n.3430G>A
16g.1208190G>CCA394172348CACNA1Hc.3332G>C (p.Gly1111Ala)
c.3293G>C (p.Gly1098Ala)
c.*2779G>C (n.*2779G>C)
c.2552G>C (p.Gly851Ala)
c.*1245G>C (n.*1245G>C)
c.2786G>C (p.Gly929Ala)
c.383G>C (p.Gly128Ala)
c.3351G>C (p.Arg1117=)
n.3434G>C
n.3430G>C
16g.1208190G>TCA394172350CACNA1Hc.3332G>T (p.Gly1111Val)
c.3293G>T (p.Gly1098Val)
c.*2779G>T (n.*2779G>T)
c.2552G>T (p.Gly851Val)
c.*1245G>T (n.*1245G>T)
c.2786G>T (p.Gly929Val)
c.383G>T (p.Gly128Val)
c.3351G>T (p.Arg1117=)
n.3434G>T
n.3430G>T
 gnomAD v4
16g.1208191G>ACA492892236CACNA1Hc.3333G>A (p.Gly1111=)
c.3294G>A (p.Gly1098=)
c.*2780G>A (n.*2780G>A)
c.2553G>A (p.Gly851=)
c.*1246G>A (n.*1246G>A)
c.2787G>A (p.Gly929=)
c.384G>A (p.Gly128=)
c.3352G>A (p.Gly1118Arg)
n.3435G>A
n.3431G>A
 ClinVar dbSNP gnomAD v4
16g.1208191G>CCA492892238CACNA1Hc.3333G>C (p.Gly1111=)
c.3294G>C (p.Gly1098=)
c.*2780G>C (n.*2780G>C)
c.2553G>C (p.Gly851=)
c.*1246G>C (n.*1246G>C)
c.2787G>C (p.Gly929=)
c.384G>C (p.Gly128=)
c.3352G>C (p.Gly1118Arg)
n.3435G>C
n.3431G>C
16g.1208191G=CA2201517702CACNA1Hc.3333G= (p.Gly1111=)
c.3294G= (p.Gly1098=)
c.*2780G= (n.*2780G=)
c.2553G= (p.Gly851=)
c.*1246G= (n.*1246G=)
c.2787G= (p.Gly929=)
c.384G= (p.Gly128=)
c.3352G= (p.Gly1118=)
n.3435G=
n.3431G=
16g.1208191G>TCA492892239CACNA1Hc.3333G>T (p.Gly1111=)
c.3294G>T (p.Gly1098=)
c.*2780G>T (n.*2780G>T)
c.2553G>T (p.Gly851=)
c.*1246G>T (n.*1246G>T)
c.2787G>T (p.Gly929=)
c.384G>T (p.Gly128=)
c.3352G>T (p.Gly1118Ter)
n.3435G>T
n.3431G>T
16g.1208192G>ACA394172353CACNA1Hc.3334G>A (p.Asp1112Asn)
c.3295G>A (p.Asp1099Asn)
c.*2781G>A (n.*2781G>A)
c.2554G>A (p.Asp852Asn)
c.*1247G>A (n.*1247G>A)
c.2788G>A (p.Asp930Asn)
c.385G>A (p.Asp129Asn)
c.3353G>A (p.Gly1118Glu)
n.3436G>A
n.3432G>A
 dbSNP gnomAD v2 gnomAD v4
16g.1208192G>CCA394172354CACNA1Hc.3334G>C (p.Asp1112His)
c.3295G>C (p.Asp1099His)
c.*2781G>C (n.*2781G>C)
c.2554G>C (p.Asp852His)
c.*1247G>C (n.*1247G>C)
c.2788G>C (p.Asp930His)
c.385G>C (p.Asp129His)
c.3353G>C (p.Gly1118Ala)
n.3436G>C
n.3432G>C
16g.1208192G=CA2201517703CACNA1Hc.3334G= (p.Asp1112=)
c.3295G= (p.Asp1099=)
c.*2781G= (n.*2781G=)
c.2554G= (p.Asp852=)
c.*1247G= (n.*1247G=)
c.2788G= (p.Asp930=)
c.385G= (p.Asp129=)
c.3353G= (p.Gly1118=)
n.3436G=
n.3432G=
16g.1208192G>TCA394172356CACNA1Hc.3334G>T (p.Asp1112Tyr)
c.3295G>T (p.Asp1099Tyr)
c.*2781G>T (n.*2781G>T)
c.2554G>T (p.Asp852Tyr)
c.*1247G>T (n.*1247G>T)
c.2788G>T (p.Asp930Tyr)
c.385G>T (p.Asp129Tyr)
c.3353G>T (p.Gly1118Val)
n.3436G>T
n.3432G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208193A=CA2201517704CACNA1Hc.3335A= (p.Asp1112=)
c.3296A= (p.Asp1099=)
c.*2782A= (n.*2782A=)
c.2555A= (p.Asp852=)
c.*1248A= (n.*1248A=)
c.2789A= (p.Asp930=)
c.386A= (p.Asp129=)
c.3354A= (p.Gly1118=)
n.3437A=
n.3433A=
16g.1208193A>CCA7800721CACNA1Hc.3335A>C (p.Asp1112Ala)
c.3296A>C (p.Asp1099Ala)
c.*2782A>C (n.*2782A>C)
c.2555A>C (p.Asp852Ala)
c.*1248A>C (n.*1248A>C)
c.2789A>C (p.Asp930Ala)
c.386A>C (p.Asp129Ala)
c.3354A>C (p.Gly1118=)
n.3437A>C
n.3433A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208193A>GCA394172359CACNA1Hc.3335A>G (p.Asp1112Gly)
c.3296A>G (p.Asp1099Gly)
c.*2782A>G (n.*2782A>G)
c.2555A>G (p.Asp852Gly)
c.*1248A>G (n.*1248A>G)
c.2789A>G (p.Asp930Gly)
c.386A>G (p.Asp129Gly)
c.3354A>G (p.Gly1118=)
n.3437A>G
n.3433A>G
 gnomAD v4
16g.1208193A>TCA7800722CACNA1Hc.3335A>T (p.Asp1112Val)
c.3296A>T (p.Asp1099Val)
c.*2782A>T (n.*2782A>T)
c.2555A>T (p.Asp852Val)
c.*1248A>T (n.*1248A>T)
c.2789A>T (p.Asp930Val)
c.386A>T (p.Asp129Val)
c.3354A>T (p.Gly1118=)
n.3437A>T
n.3433A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208194C>ACA276661990CACNA1Hc.3336C>A (p.Asp1112Glu)
c.3297C>A (p.Asp1099Glu)
c.*2783C>A (n.*2783C>A)
c.2556C>A (p.Asp852Glu)
c.*1249C>A (n.*1249C>A)
c.2790C>A (p.Asp930Glu)
c.387C>A (p.Asp129Glu)
c.3355C>A (p.Pro1119Thr)
n.3438C>A
n.3434C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208194C=CA2201517705CACNA1Hc.3336C= (p.Asp1112=)
c.3297C= (p.Asp1099=)
c.*2783C= (n.*2783C=)
c.2556C= (p.Asp852=)
c.*1249C= (n.*1249C=)
c.2790C= (p.Asp930=)
c.387C= (p.Asp129=)
c.3355C= (p.Pro1119=)
n.3438C=
n.3434C=
16g.1208194C>GCA394172362CACNA1Hc.3336C>G (p.Asp1112Glu)
c.3297C>G (p.Asp1099Glu)
c.*2783C>G (n.*2783C>G)
c.2556C>G (p.Asp852Glu)
c.*1249C>G (n.*1249C>G)
c.2790C>G (p.Asp930Glu)
c.387C>G (p.Asp129Glu)
c.3355C>G (p.Pro1119Ala)
n.3438C>G
n.3434C>G
16g.1208194C>TCA492892243CACNA1Hc.3336C>T (p.Asp1112=)
c.3297C>T (p.Asp1099=)
c.*2783C>T (n.*2783C>T)
c.2556C>T (p.Asp852=)
c.*1249C>T (n.*1249C>T)
c.2790C>T (p.Asp930=)
c.387C>T (p.Asp129=)
c.3355C>T (p.Pro1119Ser)
n.3438C>T
n.3434C>T
 gnomAD v4
16g.1208196dupCA276661986CACNA1Hc.3338dup (p.Pro1114AlafsTer?)
c.3299dup (p.Pro1101AlafsTer?)
c.*2785dup (n.*2785dup)
c.2558dup (p.Pro854AlafsTer?)
c.*1251dup (n.*1251dup)
c.2792dup (p.Pro932AlafsTer?)
c.389dup (p.Pro131AlafsTer?)
c.3357dup (p.Ala1120ArgfsTer10)
n.3440dup
n.3436dup
 dbSNP COSMIC COSMIC COSMIC
16g.1208196delCA620697723CACNA1Hc.3338del (p.Pro1113ArgfsTer?)
c.3299del (p.Pro1100ArgfsTer?)
c.*2785del (n.*2785del)
c.2558del (p.Pro853ArgfsTer?)
c.*1251del (n.*1251del)
c.2792del (p.Pro931ArgfsTer?)
c.389del (p.Pro130ArgfsTer?)
c.3357del (p.Ala1120ProfsTer?)
n.3440del
n.3436del
 gnomAD v2
16g.1208195C>ACA394172365CACNA1Hc.3337C>A (p.Pro1113Thr)
c.3298C>A (p.Pro1100Thr)
c.*2784C>A (n.*2784C>A)
c.2557C>A (p.Pro853Thr)
c.*1250C>A (n.*1250C>A)
c.2791C>A (p.Pro931Thr)
c.388C>A (p.Pro130Thr)
c.3356C>A (p.Pro1119His)
n.3439C>A
n.3435C>A
 gnomAD v4
16g.1208195C>GCA394172367CACNA1Hc.3337C>G (p.Pro1113Ala)
c.3298C>G (p.Pro1100Ala)
c.*2784C>G (n.*2784C>G)
c.2557C>G (p.Pro853Ala)
c.*1250C>G (n.*1250C>G)
c.2791C>G (p.Pro931Ala)
c.388C>G (p.Pro130Ala)
c.3356C>G (p.Pro1119Arg)
n.3439C>G
n.3435C>G
16g.1208195C>TCA394172369CACNA1Hc.3337C>T (p.Pro1113Ser)
c.3298C>T (p.Pro1100Ser)
c.*2784C>T (n.*2784C>T)
c.2557C>T (p.Pro853Ser)
c.*1250C>T (n.*1250C>T)
c.2791C>T (p.Pro931Ser)
c.388C>T (p.Pro130Ser)
c.3356C>T (p.Pro1119Leu)
n.3439C>T
n.3435C>T
 gnomAD v4
16g.1208196C>ACA394172372CACNA1Hc.3338C>A (p.Pro1113Gln)
c.3299C>A (p.Pro1100Gln)
c.*2785C>A (n.*2785C>A)
c.2558C>A (p.Pro853Gln)
c.*1251C>A (n.*1251C>A)
c.2792C>A (p.Pro931Gln)
c.389C>A (p.Pro130Gln)
c.3357C>A (p.Pro1119=)
n.3440C>A
n.3436C>A
 gnomAD v4
16g.1208196C=CA2201517706CACNA1Hc.3338C= (p.Pro1113=)
c.3299C= (p.Pro1100=)
c.*2785C= (n.*2785C=)
c.2558C= (p.Pro853=)
c.*1251C= (n.*1251C=)
c.2792C= (p.Pro931=)
c.389C= (p.Pro130=)
c.3357C= (p.Pro1119=)
n.3440C=
n.3436C=
16g.1208196C>GCA394172373CACNA1Hc.3338C>G (p.Pro1113Arg)
c.3299C>G (p.Pro1100Arg)
c.*2785C>G (n.*2785C>G)
c.2558C>G (p.Pro853Arg)
c.*1251C>G (n.*1251C>G)
c.2792C>G (p.Pro931Arg)
c.389C>G (p.Pro130Arg)
c.3357C>G (p.Pro1119=)
n.3440C>G
n.3436C>G
 ClinVar gnomAD v4
16g.1208196C>TCA7800723CACNA1Hc.3338C>T (p.Pro1113Leu)
c.3299C>T (p.Pro1100Leu)
c.*2785C>T (n.*2785C>T)
c.2558C>T (p.Pro853Leu)
c.*1251C>T (n.*1251C>T)
c.2792C>T (p.Pro931Leu)
c.389C>T (p.Pro130Leu)
c.3357C>T (p.Pro1119=)
n.3440C>T
n.3436C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208197G>ACA7800724CACNA1Hc.3339G>A (p.Pro1113=)
c.3300G>A (p.Pro1100=)
c.*2786G>A (n.*2786G>A)
c.2559G>A (p.Pro853=)
c.*1252G>A (n.*1252G>A)
c.2793G>A (p.Pro931=)
c.390G>A (p.Pro130=)
c.3358G>A (p.Ala1120Thr)
n.3441G>A
n.3437G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208197G>CCA492892245CACNA1Hc.3339G>C (p.Pro1113=)
c.3300G>C (p.Pro1100=)
c.*2786G>C (n.*2786G>C)
c.2559G>C (p.Pro853=)
c.*1252G>C (n.*1252G>C)
c.2793G>C (p.Pro931=)
c.390G>C (p.Pro130=)
c.3358G>C (p.Ala1120Pro)
n.3441G>C
n.3437G>C
16g.1208197G=CA2201517707CACNA1Hc.3339G= (p.Pro1113=)
c.3300G= (p.Pro1100=)
c.*2786G= (n.*2786G=)
c.2559G= (p.Pro853=)
c.*1252G= (n.*1252G=)
c.2793G= (p.Pro931=)
c.390G= (p.Pro130=)
c.3358G= (p.Ala1120=)
n.3441G=
n.3437G=
16g.1208197G>TCA276662007CACNA1Hc.3339G>T (p.Pro1113=)
c.3300G>T (p.Pro1100=)
c.*2786G>T (n.*2786G>T)
c.2559G>T (p.Pro853=)
c.*1252G>T (n.*1252G>T)
c.2793G>T (p.Pro931=)
c.390G>T (p.Pro130=)
c.3358G>T (p.Ala1120Ser)
n.3441G>T
n.3437G>T
 dbSNP gnomAD v4
16g.1208198C>ACA394172374CACNA1Hc.3340C>A (p.Pro1114Thr)
c.3301C>A (p.Pro1101Thr)
c.*2787C>A (n.*2787C>A)
c.2560C>A (p.Pro854Thr)
c.*1253C>A (n.*1253C>A)
c.2794C>A (p.Pro932Thr)
c.391C>A (p.Pro131Thr)
c.3359C>A (p.Ala1120Asp)
n.3442C>A
n.3438C>A
 gnomAD v4
16g.1208198C>GCA394172375CACNA1Hc.3340C>G (p.Pro1114Ala)
c.3301C>G (p.Pro1101Ala)
c.*2787C>G (n.*2787C>G)
c.2560C>G (p.Pro854Ala)
c.*1253C>G (n.*1253C>G)
c.2794C>G (p.Pro932Ala)
c.391C>G (p.Pro131Ala)
c.3359C>G (p.Ala1120Gly)
n.3442C>G
n.3438C>G
 gnomAD v4
16g.1208198C>TCA394172376CACNA1Hc.3340C>T (p.Pro1114Ser)
c.3301C>T (p.Pro1101Ser)
c.*2787C>T (n.*2787C>T)
c.2560C>T (p.Pro854Ser)
c.*1253C>T (n.*1253C>T)
c.2794C>T (p.Pro932Ser)
c.391C>T (p.Pro131Ser)
c.3359C>T (p.Ala1120Val)
n.3442C>T
n.3438C>T
 gnomAD v4
16g.1208199C>ACA394172377CACNA1Hc.3341C>A (p.Pro1114Gln)
c.3302C>A (p.Pro1101Gln)
c.*2788C>A (n.*2788C>A)
c.2561C>A (p.Pro854Gln)
c.*1254C>A (n.*1254C>A)
c.2795C>A (p.Pro932Gln)
c.392C>A (p.Pro131Gln)
c.3360C>A (p.Ala1120=)
n.3443C>A
n.3439C>A
 gnomAD v4
16g.1208199C>GCA394172379CACNA1Hc.3341C>G (p.Pro1114Arg)
c.3302C>G (p.Pro1101Arg)
c.*2788C>G (n.*2788C>G)
c.2561C>G (p.Pro854Arg)
c.*1254C>G (n.*1254C>G)
c.2795C>G (p.Pro932Arg)
c.392C>G (p.Pro131Arg)
c.3360C>G (p.Ala1120=)
n.3443C>G
n.3439C>G
16g.1208199C>TCA394172381CACNA1Hc.3341C>T (p.Pro1114Leu)
c.3302C>T (p.Pro1101Leu)
c.*2788C>T (n.*2788C>T)
c.2561C>T (p.Pro854Leu)
c.*1254C>T (n.*1254C>T)
c.2795C>T (p.Pro932Leu)
c.392C>T (p.Pro131Leu)
c.3360C>T (p.Ala1120=)
n.3443C>T
n.3439C>T
 dbSNP gnomAD v4
16g.1208200A=CA2201517708CACNA1Hc.3342A= (p.Pro1114=)
c.3303A= (p.Pro1101=)
c.*2789A= (n.*2789A=)
c.2562A= (p.Pro854=)
c.*1255A= (n.*1255A=)
c.2796A= (p.Pro932=)
c.393A= (p.Pro131=)
c.3361A= (p.Thr1121=)
n.3444A=
n.3440A=
16g.1208200A>CCA492892246CACNA1Hc.3342A>C (p.Pro1114=)
c.3303A>C (p.Pro1101=)
c.*2789A>C (n.*2789A>C)
c.2562A>C (p.Pro854=)
c.*1255A>C (n.*1255A>C)
c.2796A>C (p.Pro932=)
c.393A>C (p.Pro131=)
c.3361A>C (p.Thr1121Pro)
n.3444A>C
n.3440A>C
 gnomAD v4
16g.1208200A>GCA7800725CACNA1Hc.3342A>G (p.Pro1114=)
c.3303A>G (p.Pro1101=)
c.*2789A>G (n.*2789A>G)
c.2562A>G (p.Pro854=)
c.*1255A>G (n.*1255A>G)
c.2796A>G (p.Pro932=)
c.393A>G (p.Pro131=)
c.3361A>G (p.Thr1121Ala)
n.3444A>G
n.3440A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208200A>TCA492892247CACNA1Hc.3342A>T (p.Pro1114=)
c.3303A>T (p.Pro1101=)
c.*2789A>T (n.*2789A>T)
c.2562A>T (p.Pro854=)
c.*1255A>T (n.*1255A>T)
c.2796A>T (p.Pro932=)
c.393A>T (p.Pro131=)
c.3361A>T (p.Thr1121Ser)
n.3444A>T
n.3440A>T
 dbSNP gnomAD v2 gnomAD v4
16g.1208201C>ACA394172385CACNA1Hc.3343C>A (p.Leu1115Met)
c.3304C>A (p.Leu1102Met)
c.*2790C>A (n.*2790C>A)
c.2563C>A (p.Leu855Met)
c.*1256C>A (n.*1256C>A)
c.2797C>A (p.Leu933Met)
c.394C>A (p.Leu132Met)
c.3362C>A (p.Thr1121Asn)
n.3445C>A
n.3441C>A
 gnomAD v4
16g.1208201C=CA2201517709CACNA1Hc.3343C= (p.Leu1115=)
c.3304C= (p.Leu1102=)
c.*2790C= (n.*2790C=)
c.2563C= (p.Leu855=)
c.*1256C= (n.*1256C=)
c.2797C= (p.Leu933=)
c.394C= (p.Leu132=)
c.3362C= (p.Thr1121=)
n.3445C=
n.3441C=
16g.1208201C>GCA394172386CACNA1Hc.3343C>G (p.Leu1115Val)
c.3304C>G (p.Leu1102Val)
c.*2790C>G (n.*2790C>G)
c.2563C>G (p.Leu855Val)
c.*1256C>G (n.*1256C>G)
c.2797C>G (p.Leu933Val)
c.394C>G (p.Leu132Val)
c.3362C>G (p.Thr1121Ser)
n.3445C>G
n.3441C>G
 ClinVar dbSNP gnomAD v2
16g.1208201C>TCA492892248CACNA1Hc.3343C>T (p.Leu1115=)
c.3304C>T (p.Leu1102=)
c.*2790C>T (n.*2790C>T)
c.2563C>T (p.Leu855=)
c.*1256C>T (n.*1256C>T)
c.2797C>T (p.Leu933=)
c.394C>T (p.Leu132=)
c.3362C>T (p.Thr1121Ile)
n.3445C>T
n.3441C>T
 dbSNP gnomAD v4
16g.1208202T>ACA394172390CACNA1Hc.3344T>A (p.Leu1115Gln)
c.3305T>A (p.Leu1102Gln)
c.*2791T>A (n.*2791T>A)
c.2564T>A (p.Leu855Gln)
c.*1257T>A (n.*1257T>A)
c.2798T>A (p.Leu933Gln)
c.395T>A (p.Leu132Gln)
c.3363T>A (p.Thr1121=)
n.3446T>A
n.3442T>A
 gnomAD v4
16g.1208202T>CCA394172392CACNA1Hc.3344T>C (p.Leu1115Pro)
c.3305T>C (p.Leu1102Pro)
c.*2791T>C (n.*2791T>C)
c.2564T>C (p.Leu855Pro)
c.*1257T>C (n.*1257T>C)
c.2798T>C (p.Leu933Pro)
c.395T>C (p.Leu132Pro)
c.3363T>C (p.Thr1121=)
n.3446T>C
n.3442T>C
 gnomAD v4
16g.1208202T>GCA394172393CACNA1Hc.3344T>G (p.Leu1115Arg)
c.3305T>G (p.Leu1102Arg)
c.*2791T>G (n.*2791T>G)
c.2564T>G (p.Leu855Arg)
c.*1257T>G (n.*1257T>G)
c.2798T>G (p.Leu933Arg)
c.395T>G (p.Leu132Arg)
c.3363T>G (p.Thr1121=)
n.3446T>G
n.3442T>G
16g.1208203G>ACA492892249CACNA1Hc.3345G>A (p.Leu1115=)
c.3306G>A (p.Leu1102=)
c.*2792G>A (n.*2792G>A)
c.2565G>A (p.Leu855=)
c.*1258G>A (n.*1258G>A)
c.2799G>A (p.Leu933=)
c.396G>A (p.Leu132=)
c.3364G>A (p.Gly1122Arg)
n.3447G>A
n.3443G>A
 gnomAD v4
16g.1208203G>CCA7800726CACNA1Hc.3345G>C (p.Leu1115=)
c.3306G>C (p.Leu1102=)
c.*2792G>C (n.*2792G>C)
c.2565G>C (p.Leu855=)
c.*1258G>C (n.*1258G>C)
c.2799G>C (p.Leu933=)
c.396G>C (p.Leu132=)
c.3364G>C (p.Gly1122Arg)
n.3447G>C
n.3443G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208203G=CA2201517710CACNA1Hc.3345G= (p.Leu1115=)
c.3306G= (p.Leu1102=)
c.*2792G= (n.*2792G=)
c.2565G= (p.Leu855=)
c.*1258G= (n.*1258G=)
c.2799G= (p.Leu933=)
c.396G= (p.Leu132=)
c.3364G= (p.Gly1122=)
n.3447G=
n.3443G=
16g.1208203G>TCA492892250CACNA1Hc.3345G>T (p.Leu1115=)
c.3306G>T (p.Leu1102=)
c.*2792G>T (n.*2792G>T)
c.2565G>T (p.Leu855=)
c.*1258G>T (n.*1258G>T)
c.2799G>T (p.Leu933=)
c.396G>T (p.Leu132=)
c.3364G>T (p.Gly1122Trp)
n.3447G>T
n.3443G>T
 gnomAD v4
16g.1208205delCA2630927113CACNA1Hc.3347del (p.Gly1116GlufsTer?)
c.3308del (p.Gly1103GlufsTer?)
c.*2794del (n.*2794del)
c.2567del (p.Gly856GlufsTer?)
c.*1260del (n.*1260del)
c.2801del (p.Gly934GlufsTer?)
c.398del (p.Gly133GlufsTer?)
c.3366del (p.Arg1123AspfsTer?)
n.3449del
n.3445del
 gnomAD v4
16g.1208204G>ACA394172396CACNA1Hc.3346G>A (p.Gly1116Arg)
c.3307G>A (p.Gly1103Arg)
c.*2793G>A (n.*2793G>A)
c.2566G>A (p.Gly856Arg)
c.*1259G>A (n.*1259G>A)
c.2800G>A (p.Gly934Arg)
c.397G>A (p.Gly133Arg)
c.3365G>A (p.Gly1122Glu)
n.3448G>A
n.3444G>A
 gnomAD v4
16g.1208204G>CCA394172399CACNA1Hc.3346G>C (p.Gly1116Arg)
c.3307G>C (p.Gly1103Arg)
c.*2793G>C (n.*2793G>C)
c.2566G>C (p.Gly856Arg)
c.*1259G>C (n.*1259G>C)
c.2800G>C (p.Gly934Arg)
c.397G>C (p.Gly133Arg)
c.3365G>C (p.Gly1122Ala)
n.3448G>C
n.3444G>C
16g.1208204G=CA2201517711CACNA1Hc.3346G= (p.Gly1116=)
c.3307G= (p.Gly1103=)
c.*2793G= (n.*2793G=)
c.2566G= (p.Gly856=)
c.*1259G= (n.*1259G=)
c.2800G= (p.Gly934=)
c.397G= (p.Gly133=)
c.3365G= (p.Gly1122=)
n.3448G=
n.3444G=
16g.1208204G>TCA394172400CACNA1Hc.3346G>T (p.Gly1116Ter)
c.3307G>T (p.Gly1103Ter)
c.*2793G>T (n.*2793G>T)
c.2566G>T (p.Gly856Ter)
c.*1259G>T (n.*1259G>T)
c.2800G>T (p.Gly934Ter)
c.397G>T (p.Gly133Ter)
c.3365G>T (p.Gly1122Val)
n.3448G>T
n.3444G>T
 dbSNP gnomAD v4
16g.1208205G>ACA7800727CACNA1Hc.3347G>A (p.Gly1116Glu)
c.3308G>A (p.Gly1103Glu)
c.*2794G>A (n.*2794G>A)
c.2567G>A (p.Gly856Glu)
c.*1260G>A (n.*1260G>A)
c.2801G>A (p.Gly934Glu)
c.398G>A (p.Gly133Glu)
c.3366G>A (p.Gly1122=)
n.3449G>A
n.3445G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208205G>CCA394172403CACNA1Hc.3347G>C (p.Gly1116Ala)
c.3308G>C (p.Gly1103Ala)
c.*2794G>C (n.*2794G>C)
c.2567G>C (p.Gly856Ala)
c.*1260G>C (n.*1260G>C)
c.2801G>C (p.Gly934Ala)
c.398G>C (p.Gly133Ala)
c.3366G>C (p.Gly1122=)
n.3449G>C
n.3445G>C
16g.1208205G=CA2201517712CACNA1Hc.3347G= (p.Gly1116=)
c.3308G= (p.Gly1103=)
c.*2794G= (n.*2794G=)
c.2567G= (p.Gly856=)
c.*1260G= (n.*1260G=)
c.2801G= (p.Gly934=)
c.398G= (p.Gly133=)
c.3366G= (p.Gly1122=)
n.3449G=
n.3445G=
16g.1208205G>TCA394172404CACNA1Hc.3347G>T (p.Gly1116Val)
c.3308G>T (p.Gly1103Val)
c.*2794G>T (n.*2794G>T)
c.2567G>T (p.Gly856Val)
c.*1260G>T (n.*1260G>T)
c.2801G>T (p.Gly934Val)
c.398G>T (p.Gly133Val)
c.3366G>T (p.Gly1122=)
n.3449G>T
n.3445G>T
 gnomAD v4
16g.1208206A>CCA492892253CACNA1Hc.3348A>C (p.Gly1116=)
c.3309A>C (p.Gly1103=)
c.*2795A>C (n.*2795A>C)
c.2568A>C (p.Gly856=)
c.*1261A>C (n.*1261A>C)
c.2802A>C (p.Gly934=)
c.399A>C (p.Gly133=)
c.3367A>C (p.Arg1123=)
n.3450A>C
n.3446A>C
 gnomAD v4
16g.1208206A>GCA492892254CACNA1Hc.3348A>G (p.Gly1116=)
c.3309A>G (p.Gly1103=)
c.*2795A>G (n.*2795A>G)
c.2568A>G (p.Gly856=)
c.*1261A>G (n.*1261A>G)
c.2802A>G (p.Gly934=)
c.399A>G (p.Gly133=)
c.3367A>G (p.Arg1123Gly)
n.3450A>G
n.3446A>G
 gnomAD v4
16g.1208206A>TCA492892255CACNA1Hc.3348A>T (p.Gly1116=)
c.3309A>T (p.Gly1103=)
c.*2795A>T (n.*2795A>T)
c.2568A>T (p.Gly856=)
c.*1261A>T (n.*1261A>T)
c.2802A>T (p.Gly934=)
c.399A>T (p.Gly133=)
c.3367A>T (p.Arg1123Ter)
n.3450A>T
n.3446A>T
 gnomAD v4

Number of alleles fetched