Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.1208006C>ACA620697717CACNA1Hc.3155-7C>A (n.3155-7C>A)
c.3116-7C>A (n.3116-7C>A)
c.*2602-7C>A (n.*2602-7C>A)
c.2375-7C>A (n.2375-7C>A)
c.*1068-7C>A (n.*1068-7C>A)
c.2609-7C>A (n.2609-7C>A)
c.206-7C>A (n.206-7C>A)
c.3174-7C>A (n.3174-7C>A)
n.3257-7C>A
n.3253-7C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208006C=CA2201517569CACNA1Hc.3155-7C= (n.3155-7C=)
c.3116-7C= (n.3116-7C=)
c.*2602-7C= (n.*2602-7C=)
c.2375-7C= (n.2375-7C=)
c.*1068-7C= (n.*1068-7C=)
c.2609-7C= (n.2609-7C=)
c.206-7C= (n.206-7C=)
c.3174-7C= (n.3174-7C=)
n.3257-7C=
n.3253-7C=
16g.1208006C>GCA620697718CACNA1Hc.3155-7C>G (n.3155-7C>G)
c.3116-7C>G (n.3116-7C>G)
c.*2602-7C>G (n.*2602-7C>G)
c.2375-7C>G (n.2375-7C>G)
c.*1068-7C>G (n.*1068-7C>G)
c.2609-7C>G (n.2609-7C>G)
c.206-7C>G (n.206-7C>G)
c.3174-7C>G (n.3174-7C>G)
n.3257-7C>G
n.3253-7C>G
 ClinVar dbSNP gnomAD v2
16g.1208006C>TCA7800666CACNA1Hc.3155-7C>T (n.3155-7C>T)
c.3116-7C>T (n.3116-7C>T)
c.*2602-7C>T (n.*2602-7C>T)
c.2375-7C>T (n.2375-7C>T)
c.*1068-7C>T (n.*1068-7C>T)
c.2609-7C>T (n.2609-7C>T)
c.206-7C>T (n.206-7C>T)
c.3174-7C>T (n.3174-7C>T)
n.3257-7C>T
n.3253-7C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208007C>ACA2630927001CACNA1Hc.3155-6C>A (n.3155-6C>A)
c.3116-6C>A (n.3116-6C>A)
c.*2602-6C>A (n.*2602-6C>A)
c.2375-6C>A (n.2375-6C>A)
c.*1068-6C>A (n.*1068-6C>A)
c.2609-6C>A (n.2609-6C>A)
c.206-6C>A (n.206-6C>A)
c.3174-6C>A (n.3174-6C>A)
n.3257-6C>A
n.3253-6C>A
 gnomAD v4
16g.1208007C=CA2201517570CACNA1Hc.3155-6C= (n.3155-6C=)
c.3116-6C= (n.3116-6C=)
c.*2602-6C= (n.*2602-6C=)
c.2375-6C= (n.2375-6C=)
c.*1068-6C= (n.*1068-6C=)
c.2609-6C= (n.2609-6C=)
c.206-6C= (n.206-6C=)
c.3174-6C= (n.3174-6C=)
n.3257-6C=
n.3253-6C=
16g.1208007C>TCA620697719CACNA1Hc.3155-6C>T (n.3155-6C>T)
c.3116-6C>T (n.3116-6C>T)
c.*2602-6C>T (n.*2602-6C>T)
c.2375-6C>T (n.2375-6C>T)
c.*1068-6C>T (n.*1068-6C>T)
c.2609-6C>T (n.2609-6C>T)
c.206-6C>T (n.206-6C>T)
c.3174-6C>T (n.3174-6C>T)
n.3257-6C>T
n.3253-6C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208008C>ACA2630927002CACNA1Hc.3155-5C>A (n.3155-5C>A)
c.3116-5C>A (n.3116-5C>A)
c.*2602-5C>A (n.*2602-5C>A)
c.2375-5C>A (n.2375-5C>A)
c.*1068-5C>A (n.*1068-5C>A)
c.2609-5C>A (n.2609-5C>A)
c.206-5C>A (n.206-5C>A)
c.3174-5C>A (n.3174-5C>A)
n.3257-5C>A
n.3253-5C>A
 gnomAD v4
16g.1208008C=CA2201517571CACNA1Hc.3155-5C= (n.3155-5C=)
c.3116-5C= (n.3116-5C=)
c.*2602-5C= (n.*2602-5C=)
c.2375-5C= (n.2375-5C=)
c.*1068-5C= (n.*1068-5C=)
c.2609-5C= (n.2609-5C=)
c.206-5C= (n.206-5C=)
c.3174-5C= (n.3174-5C=)
n.3257-5C=
n.3253-5C=
16g.1208008C>GCA2201517572CACNA1Hc.3155-5C>G (n.3155-5C>G)
c.3116-5C>G (n.3116-5C>G)
c.*2602-5C>G (n.*2602-5C>G)
c.2375-5C>G (n.2375-5C>G)
c.*1068-5C>G (n.*1068-5C>G)
c.2609-5C>G (n.2609-5C>G)
c.206-5C>G (n.206-5C>G)
c.3174-5C>G (n.3174-5C>G)
n.3257-5C>G
n.3253-5C>G
 dbSNP gnomAD v4
16g.1208008C>TCA7800667CACNA1Hc.3155-5C>T (n.3155-5C>T)
c.3116-5C>T (n.3116-5C>T)
c.*2602-5C>T (n.*2602-5C>T)
c.2375-5C>T (n.2375-5C>T)
c.*1068-5C>T (n.*1068-5C>T)
c.2609-5C>T (n.2609-5C>T)
c.206-5C>T (n.206-5C>T)
c.3174-5C>T (n.3174-5C>T)
n.3257-5C>T
n.3253-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208009G>ACA7800668CACNA1Hc.3155-4G>A (n.3155-4G>A)
c.3116-4G>A (n.3116-4G>A)
c.*2602-4G>A (n.*2602-4G>A)
c.2375-4G>A (n.2375-4G>A)
c.*1068-4G>A (n.*1068-4G>A)
c.2609-4G>A (n.2609-4G>A)
c.206-4G>A (n.206-4G>A)
c.3174-4G>A (n.3174-4G>A)
n.3257-4G>A
n.3253-4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208009G=CA2201517573CACNA1Hc.3155-4G= (n.3155-4G=)
c.3116-4G= (n.3116-4G=)
c.*2602-4G= (n.*2602-4G=)
c.2375-4G= (n.2375-4G=)
c.*1068-4G= (n.*1068-4G=)
c.2609-4G= (n.2609-4G=)
c.206-4G= (n.206-4G=)
c.3174-4G= (n.3174-4G=)
n.3257-4G=
n.3253-4G=
16g.1208009G>TCA7800669CACNA1Hc.3155-4G>T (n.3155-4G>T)
c.3116-4G>T (n.3116-4G>T)
c.*2602-4G>T (n.*2602-4G>T)
c.2375-4G>T (n.2375-4G>T)
c.*1068-4G>T (n.*1068-4G>T)
c.2609-4G>T (n.2609-4G>T)
c.206-4G>T (n.206-4G>T)
c.3174-4G>T (n.3174-4G>T)
n.3257-4G>T
n.3253-4G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208010C>ACA2630927003CACNA1Hc.3155-3C>A (n.3155-3C>A)
c.3116-3C>A (n.3116-3C>A)
c.*2602-3C>A (n.*2602-3C>A)
c.2375-3C>A (n.2375-3C>A)
c.*1068-3C>A (n.*1068-3C>A)
c.2609-3C>A (n.2609-3C>A)
c.206-3C>A (n.206-3C>A)
c.3174-3C>A (n.3174-3C>A)
n.3257-3C>A
n.3253-3C>A
 gnomAD v4
16g.1208011A>CCA394171573CACNA1Hc.3155-2A>C (n.3155-2A>C)
c.3116-2A>C (n.3116-2A>C)
c.*2602-2A>C (n.*2602-2A>C)
c.2375-2A>C (n.2375-2A>C)
c.*1068-2A>C (n.*1068-2A>C)
c.2609-2A>C (n.2609-2A>C)
c.206-2A>C (n.206-2A>C)
c.3174-2A>C (n.3174-2A>C)
n.3257-2A>C
n.3253-2A>C
16g.1208011A>GCA394171572CACNA1Hc.3155-2A>G (n.3155-2A>G)
c.3116-2A>G (n.3116-2A>G)
c.*2602-2A>G (n.*2602-2A>G)
c.2375-2A>G (n.2375-2A>G)
c.*1068-2A>G (n.*1068-2A>G)
c.2609-2A>G (n.2609-2A>G)
c.206-2A>G (n.206-2A>G)
c.3174-2A>G (n.3174-2A>G)
n.3257-2A>G
n.3253-2A>G
 gnomAD v4
16g.1208011A>TCA394171570CACNA1Hc.3155-2A>T (n.3155-2A>T)
c.3116-2A>T (n.3116-2A>T)
c.*2602-2A>T (n.*2602-2A>T)
c.2375-2A>T (n.2375-2A>T)
c.*1068-2A>T (n.*1068-2A>T)
c.2609-2A>T (n.2609-2A>T)
c.206-2A>T (n.206-2A>T)
c.3174-2A>T (n.3174-2A>T)
n.3257-2A>T
n.3253-2A>T
16g.1208012G>ACA394171574CACNA1Hc.3155-1G>A (n.3155-1G>A)
c.3116-1G>A (n.3116-1G>A)
c.*2602-1G>A (n.*2602-1G>A)
c.2375-1G>A (n.2375-1G>A)
c.*1068-1G>A (n.*1068-1G>A)
c.2609-1G>A (n.2609-1G>A)
c.206-1G>A (n.206-1G>A)
c.3174-1G>A (n.3174-1G>A)
n.3257-1G>A
n.3253-1G>A
16g.1208012G>CCA394171576CACNA1Hc.3155-1G>C (n.3155-1G>C)
c.3116-1G>C (n.3116-1G>C)
c.*2602-1G>C (n.*2602-1G>C)
c.2375-1G>C (n.2375-1G>C)
c.*1068-1G>C (n.*1068-1G>C)
c.2609-1G>C (n.2609-1G>C)
c.206-1G>C (n.206-1G>C)
c.3174-1G>C (n.3174-1G>C)
n.3257-1G>C
n.3253-1G>C
16g.1208012G>TCA394171578CACNA1Hc.3155-1G>T (n.3155-1G>T)
c.3116-1G>T (n.3116-1G>T)
c.*2602-1G>T (n.*2602-1G>T)
c.2375-1G>T (n.2375-1G>T)
c.*1068-1G>T (n.*1068-1G>T)
c.2609-1G>T (n.2609-1G>T)
c.206-1G>T (n.206-1G>T)
c.3174-1G>T (n.3174-1G>T)
n.3257-1G>T
n.3253-1G>T
 gnomAD v4
16g.1208013A>CCA394171580CACNA1Hc.3155A>C (p.Glu1052Ala)
c.3116A>C (p.Glu1039Ala)
c.*2602A>C (n.*2602A>C)
c.2375A>C (p.Glu792Ala)
c.*1068A>C (n.*1068A>C)
c.2609A>C (p.Glu870Ala)
c.206A>C (p.Glu69Ala)
c.3174A>C (p.Arg1058Ser)
n.3257A>C
n.3253A>C
16g.1208013A>GCA394171582CACNA1Hc.3155A>G (p.Glu1052Gly)
c.3116A>G (p.Glu1039Gly)
c.*2602A>G (n.*2602A>G)
c.2375A>G (p.Glu792Gly)
c.*1068A>G (n.*1068A>G)
c.2609A>G (p.Glu870Gly)
c.206A>G (p.Glu69Gly)
c.3174A>G (p.Arg1058=)
n.3257A>G
n.3253A>G
16g.1208013A>TCA394171583CACNA1Hc.3155A>T (p.Glu1052Val)
c.3116A>T (p.Glu1039Val)
c.*2602A>T (n.*2602A>T)
c.2375A>T (p.Glu792Val)
c.*1068A>T (n.*1068A>T)
c.2609A>T (p.Glu870Val)
c.206A>T (p.Glu69Val)
c.3174A>T (p.Arg1058Ser)
n.3257A>T
n.3253A>T
16g.1208014G>ACA492891758CACNA1Hc.3156G>A (p.Glu1052=)
c.3117G>A (p.Glu1039=)
c.*2603G>A (n.*2603G>A)
c.2376G>A (p.Glu792=)
c.*1069G>A (n.*1069G>A)
c.2610G>A (p.Glu870=)
c.207G>A (p.Glu69=)
c.3175G>A (p.Ala1059Thr)
n.3258G>A
n.3254G>A
16g.1208014G>CCA394171585CACNA1Hc.3156G>C (p.Glu1052Asp)
c.3117G>C (p.Glu1039Asp)
c.*2603G>C (n.*2603G>C)
c.2376G>C (p.Glu792Asp)
c.*1069G>C (n.*1069G>C)
c.2610G>C (p.Glu870Asp)
c.207G>C (p.Glu69Asp)
c.3175G>C (p.Ala1059Pro)
n.3258G>C
n.3254G>C
16g.1208014G>TCA394171587CACNA1Hc.3156G>T (p.Glu1052Asp)
c.3117G>T (p.Glu1039Asp)
c.*2603G>T (n.*2603G>T)
c.2376G>T (p.Glu792Asp)
c.*1069G>T (n.*1069G>T)
c.2610G>T (p.Glu870Asp)
c.207G>T (p.Glu69Asp)
c.3175G>T (p.Ala1059Ser)
n.3258G>T
n.3254G>T
 gnomAD v4
16g.1208015C>ACA394171589CACNA1Hc.3157C>A (p.Leu1053Met)
c.3118C>A (p.Leu1040Met)
c.*2604C>A (n.*2604C>A)
c.2377C>A (p.Leu793Met)
c.*1070C>A (n.*1070C>A)
c.2611C>A (p.Leu871Met)
c.208C>A (p.Leu70Met)
c.3176C>A (p.Ala1059Asp)
n.3259C>A
n.3255C>A
 gnomAD v4
16g.1208015C=CA2201517574CACNA1Hc.3157C= (p.Leu1053=)
c.3118C= (p.Leu1040=)
c.*2604C= (n.*2604C=)
c.2377C= (p.Leu793=)
c.*1070C= (n.*1070C=)
c.2611C= (p.Leu871=)
c.208C= (p.Leu70=)
c.3176C= (p.Ala1059=)
n.3259C=
n.3255C=
16g.1208015C>GCA7800670CACNA1Hc.3157C>G (p.Leu1053Val)
c.3118C>G (p.Leu1040Val)
c.*2604C>G (n.*2604C>G)
c.2377C>G (p.Leu793Val)
c.*1070C>G (n.*1070C>G)
c.2611C>G (p.Leu871Val)
c.208C>G (p.Leu70Val)
c.3176C>G (p.Ala1059Gly)
n.3259C>G
n.3255C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208015C>TCA492891759CACNA1Hc.3157C>T (p.Leu1053=)
c.3118C>T (p.Leu1040=)
c.*2604C>T (n.*2604C>T)
c.2377C>T (p.Leu793=)
c.*1070C>T (n.*1070C>T)
c.2611C>T (p.Leu871=)
c.208C>T (p.Leu70=)
c.3176C>T (p.Ala1059Val)
n.3259C>T
n.3255C>T
 COSMIC COSMIC COSMIC
16g.1208016T>ACA394171592CACNA1Hc.3158T>A (p.Leu1053Gln)
c.3119T>A (p.Leu1040Gln)
c.*2605T>A (n.*2605T>A)
c.2378T>A (p.Leu793Gln)
c.*1071T>A (n.*1071T>A)
c.2612T>A (p.Leu871Gln)
c.209T>A (p.Leu70Gln)
c.3177T>A (p.Ala1059=)
n.3260T>A
n.3256T>A
16g.1208016T>CCA394171593CACNA1Hc.3158T>C (p.Leu1053Pro)
c.3119T>C (p.Leu1040Pro)
c.*2605T>C (n.*2605T>C)
c.2378T>C (p.Leu793Pro)
c.*1071T>C (n.*1071T>C)
c.2612T>C (p.Leu871Pro)
c.209T>C (p.Leu70Pro)
c.3177T>C (p.Ala1059=)
n.3260T>C
n.3256T>C
 gnomAD v4
16g.1208016T>GCA394171595CACNA1Hc.3158T>G (p.Leu1053Arg)
c.3119T>G (p.Leu1040Arg)
c.*2605T>G (n.*2605T>G)
c.2378T>G (p.Leu793Arg)
c.*1071T>G (n.*1071T>G)
c.2612T>G (p.Leu871Arg)
c.209T>G (p.Leu70Arg)
c.3177T>G (p.Ala1059=)
n.3260T>G
n.3256T>G
16g.1208017G>ACA492891760CACNA1Hc.3159G>A (p.Leu1053=)
c.3120G>A (p.Leu1040=)
c.*2606G>A (n.*2606G>A)
c.2379G>A (p.Leu793=)
c.*1072G>A (n.*1072G>A)
c.2613G>A (p.Leu871=)
c.210G>A (p.Leu70=)
c.3178G>A (p.Glu1060Lys)
n.3261G>A
n.3257G>A
 gnomAD v4
16g.1208017G>CCA492891762CACNA1Hc.3159G>C (p.Leu1053=)
c.3120G>C (p.Leu1040=)
c.*2606G>C (n.*2606G>C)
c.2379G>C (p.Leu793=)
c.*1072G>C (n.*1072G>C)
c.2613G>C (p.Leu871=)
c.210G>C (p.Leu70=)
c.3178G>C (p.Glu1060Gln)
n.3261G>C
n.3257G>C
16g.1208017G>TCA492891761CACNA1Hc.3159G>T (p.Leu1053=)
c.3120G>T (p.Leu1040=)
c.*2606G>T (n.*2606G>T)
c.2379G>T (p.Leu793=)
c.*1072G>T (n.*1072G>T)
c.2613G>T (p.Leu871=)
c.210G>T (p.Leu70=)
c.3178G>T (p.Glu1060Ter)
n.3261G>T
n.3257G>T
 gnomAD v4
16g.1208018A=CA2201517575CACNA1Hc.3160A= (p.Lys1054=)
c.3121A= (p.Lys1041=)
c.*2607A= (n.*2607A=)
c.2380A= (p.Lys794=)
c.*1073A= (n.*1073A=)
c.2614A= (p.Lys872=)
c.211A= (p.Lys71=)
c.3179A= (p.Glu1060=)
n.3262A=
n.3258A=
16g.1208018A>CCA394171600CACNA1Hc.3160A>C (p.Lys1054Gln)
c.3121A>C (p.Lys1041Gln)
c.*2607A>C (n.*2607A>C)
c.2380A>C (p.Lys794Gln)
c.*1073A>C (n.*1073A>C)
c.2614A>C (p.Lys872Gln)
c.211A>C (p.Lys71Gln)
c.3179A>C (p.Glu1060Ala)
n.3262A>C
n.3258A>C
16g.1208018A>GCA394171598CACNA1Hc.3160A>G (p.Lys1054Glu)
c.3121A>G (p.Lys1041Glu)
c.*2607A>G (n.*2607A>G)
c.2380A>G (p.Lys794Glu)
c.*1073A>G (n.*1073A>G)
c.2614A>G (p.Lys872Glu)
c.211A>G (p.Lys71Glu)
c.3179A>G (p.Glu1060Gly)
n.3262A>G
n.3258A>G
16g.1208018A>TCA394171597CACNA1Hc.3160A>T (p.Lys1054Ter)
c.3121A>T (p.Lys1041Ter)
c.*2607A>T (n.*2607A>T)
c.2380A>T (p.Lys794Ter)
c.*1073A>T (n.*1073A>T)
c.2614A>T (p.Lys872Ter)
c.211A>T (p.Lys71Ter)
c.3179A>T (p.Glu1060Val)
n.3262A>T
n.3258A>T
 dbSNP gnomAD v4
16g.1208019A>CCA394171601CACNA1Hc.3161A>C (p.Lys1054Thr)
c.3122A>C (p.Lys1041Thr)
c.*2608A>C (n.*2608A>C)
c.2381A>C (p.Lys794Thr)
c.*1074A>C (n.*1074A>C)
c.2615A>C (p.Lys872Thr)
c.212A>C (p.Lys71Thr)
c.3180A>C (p.Glu1060Asp)
n.3263A>C
n.3259A>C
16g.1208019A>GCA394171603CACNA1Hc.3161A>G (p.Lys1054Arg)
c.3122A>G (p.Lys1041Arg)
c.*2608A>G (n.*2608A>G)
c.2381A>G (p.Lys794Arg)
c.*1074A>G (n.*1074A>G)
c.2615A>G (p.Lys872Arg)
c.212A>G (p.Lys71Arg)
c.3180A>G (p.Glu1060=)
n.3263A>G
n.3259A>G
16g.1208019A>TCA394171605CACNA1Hc.3161A>T (p.Lys1054Met)
c.3122A>T (p.Lys1041Met)
c.*2608A>T (n.*2608A>T)
c.2381A>T (p.Lys794Met)
c.*1074A>T (n.*1074A>T)
c.2615A>T (p.Lys872Met)
c.212A>T (p.Lys71Met)
c.3180A>T (p.Glu1060Asp)
n.3263A>T
n.3259A>T
16g.1208020G>ACA492891763CACNA1Hc.3162G>A (p.Lys1054=)
c.3123G>A (p.Lys1041=)
c.*2609G>A (n.*2609G>A)
c.2382G>A (p.Lys794=)
c.*1075G>A (n.*1075G>A)
c.2616G>A (p.Lys872=)
c.213G>A (p.Lys71=)
c.3181G>A (p.Asp1061Asn)
n.3264G>A
n.3260G>A
16g.1208020G>CCA394171608CACNA1Hc.3162G>C (p.Lys1054Asn)
c.3123G>C (p.Lys1041Asn)
c.*2609G>C (n.*2609G>C)
c.2382G>C (p.Lys794Asn)
c.*1075G>C (n.*1075G>C)
c.2616G>C (p.Lys872Asn)
c.213G>C (p.Lys71Asn)
c.3181G>C (p.Asp1061His)
n.3264G>C
n.3260G>C
 dbSNP gnomAD v3 gnomAD v4
16g.1208020G=CA2201517576CACNA1Hc.3162G= (p.Lys1054=)
c.3123G= (p.Lys1041=)
c.*2609G= (n.*2609G=)
c.2382G= (p.Lys794=)
c.*1075G= (n.*1075G=)
c.2616G= (p.Lys872=)
c.213G= (p.Lys71=)
c.3181G= (p.Asp1061=)
n.3264G=
n.3260G=
16g.1208020G>TCA394171609CACNA1Hc.3162G>T (p.Lys1054Asn)
c.3123G>T (p.Lys1041Asn)
c.*2609G>T (n.*2609G>T)
c.2382G>T (p.Lys794Asn)
c.*1075G>T (n.*1075G>T)
c.2616G>T (p.Lys872Asn)
c.213G>T (p.Lys71Asn)
c.3181G>T (p.Asp1061Tyr)
n.3264G>T
n.3260G>T
16g.1208021A=CA2201517577CACNA1Hc.3163A= (p.Met1055=)
c.3124A= (p.Met1042=)
c.*2610A= (n.*2610A=)
c.2383A= (p.Met795=)
c.*1076A= (n.*1076A=)
c.2617A= (p.Met873=)
c.214A= (p.Met72=)
c.3182A= (p.Asp1061=)
n.3265A=
n.3261A=
16g.1208021A>CCA394171612CACNA1Hc.3163A>C (p.Met1055Leu)
c.3124A>C (p.Met1042Leu)
c.*2610A>C (n.*2610A>C)
c.2383A>C (p.Met795Leu)
c.*1076A>C (n.*1076A>C)
c.2617A>C (p.Met873Leu)
c.214A>C (p.Met72Leu)
c.3182A>C (p.Asp1061Ala)
n.3265A>C
n.3261A>C
16g.1208021A>GCA7800671CACNA1Hc.3163A>G (p.Met1055Val)
c.3124A>G (p.Met1042Val)
c.*2610A>G (n.*2610A>G)
c.2383A>G (p.Met795Val)
c.*1076A>G (n.*1076A>G)
c.2617A>G (p.Met873Val)
c.214A>G (p.Met72Val)
c.3182A>G (p.Asp1061Gly)
n.3265A>G
n.3261A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208021A>TCA394171615CACNA1Hc.3163A>T (p.Met1055Leu)
c.3124A>T (p.Met1042Leu)
c.*2610A>T (n.*2610A>T)
c.2383A>T (p.Met795Leu)
c.*1076A>T (n.*1076A>T)
c.2617A>T (p.Met873Leu)
c.214A>T (p.Met72Leu)
c.3182A>T (p.Asp1061Val)
n.3265A>T
n.3261A>T
16g.1208022T>ACA394171617CACNA1Hc.3164T>A (p.Met1055Lys)
c.3125T>A (p.Met1042Lys)
c.*2611T>A (n.*2611T>A)
c.2384T>A (p.Met795Lys)
c.*1077T>A (n.*1077T>A)
c.2618T>A (p.Met873Lys)
c.215T>A (p.Met72Lys)
c.3183T>A (p.Asp1061Glu)
n.3266T>A
n.3262T>A
16g.1208022T>CCA394171620CACNA1Hc.3164T>C (p.Met1055Thr)
c.3125T>C (p.Met1042Thr)
c.*2611T>C (n.*2611T>C)
c.2384T>C (p.Met795Thr)
c.*1077T>C (n.*1077T>C)
c.2618T>C (p.Met873Thr)
c.215T>C (p.Met72Thr)
c.3183T>C (p.Asp1061=)
n.3266T>C
n.3262T>C
 dbSNP gnomAD v3 gnomAD v4
16g.1208022T>GCA394171622CACNA1Hc.3164T>G (p.Met1055Arg)
c.3125T>G (p.Met1042Arg)
c.*2611T>G (n.*2611T>G)
c.2384T>G (p.Met795Arg)
c.*1077T>G (n.*1077T>G)
c.2618T>G (p.Met873Arg)
c.215T>G (p.Met72Arg)
c.3183T>G (p.Asp1061Glu)
n.3266T>G
n.3262T>G
16g.1208022T=CA2201517578CACNA1Hc.3164T= (p.Met1055=)
c.3125T= (p.Met1042=)
c.*2611T= (n.*2611T=)
c.2384T= (p.Met795=)
c.*1077T= (n.*1077T=)
c.2618T= (p.Met873=)
c.215T= (p.Met72=)
c.3183T= (p.Asp1061=)
n.3266T=
n.3262T=
16g.1208023G>ACA276661698CACNA1Hc.3165G>A (p.Met1055Ile)
c.3126G>A (p.Met1042Ile)
c.*2612G>A (n.*2612G>A)
c.2385G>A (p.Met795Ile)
c.*1078G>A (n.*1078G>A)
c.2619G>A (p.Met873Ile)
c.216G>A (p.Met72Ile)
c.3184G>A (p.Val1062Met)
n.3267G>A
n.3263G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208023G>CCA394171625CACNA1Hc.3165G>C (p.Met1055Ile)
c.3126G>C (p.Met1042Ile)
c.*2612G>C (n.*2612G>C)
c.2385G>C (p.Met795Ile)
c.*1078G>C (n.*1078G>C)
c.2619G>C (p.Met873Ile)
c.216G>C (p.Met72Ile)
c.3184G>C (p.Val1062Leu)
n.3267G>C
n.3263G>C
16g.1208023G=CA2201517579CACNA1Hc.3165G= (p.Met1055=)
c.3126G= (p.Met1042=)
c.*2612G= (n.*2612G=)
c.2385G= (p.Met795=)
c.*1078G= (n.*1078G=)
c.2619G= (p.Met873=)
c.216G= (p.Met72=)
c.3184G= (p.Val1062=)
n.3267G=
n.3263G=
16g.1208023G>TCA394171628CACNA1Hc.3165G>T (p.Met1055Ile)
c.3126G>T (p.Met1042Ile)
c.*2612G>T (n.*2612G>T)
c.2385G>T (p.Met795Ile)
c.*1078G>T (n.*1078G>T)
c.2619G>T (p.Met873Ile)
c.216G>T (p.Met72Ile)
c.3184G>T (p.Val1062Leu)
n.3267G>T
n.3263G>T
16g.1208024T>ACA394171635CACNA1Hc.3166T>A (p.Cys1056Ser)
c.3127T>A (p.Cys1043Ser)
c.*2613T>A (n.*2613T>A)
c.2386T>A (p.Cys796Ser)
c.*1079T>A (n.*1079T>A)
c.2620T>A (p.Cys874Ser)
c.217T>A (p.Cys73Ser)
c.3185T>A (p.Val1062Glu)
n.3268T>A
n.3264T>A
 gnomAD v4
16g.1208024T>CCA394171632CACNA1Hc.3166T>C (p.Cys1056Arg)
c.3127T>C (p.Cys1043Arg)
c.*2613T>C (n.*2613T>C)
c.2386T>C (p.Cys796Arg)
c.*1079T>C (n.*1079T>C)
c.2620T>C (p.Cys874Arg)
c.217T>C (p.Cys73Arg)
c.3185T>C (p.Val1062Ala)
n.3268T>C
n.3264T>C
 dbSNP gnomAD v2 gnomAD v4
16g.1208024T>GCA394171630CACNA1Hc.3166T>G (p.Cys1056Gly)
c.3127T>G (p.Cys1043Gly)
c.*2613T>G (n.*2613T>G)
c.2386T>G (p.Cys796Gly)
c.*1079T>G (n.*1079T>G)
c.2620T>G (p.Cys874Gly)
c.217T>G (p.Cys73Gly)
c.3185T>G (p.Val1062Gly)
n.3268T>G
n.3264T>G
 gnomAD v4
16g.1208024T=CA2201517580CACNA1Hc.3166T= (p.Cys1056=)
c.3127T= (p.Cys1043=)
c.*2613T= (n.*2613T=)
c.2386T= (p.Cys796=)
c.*1079T= (n.*1079T=)
c.2620T= (p.Cys874=)
c.217T= (p.Cys73=)
c.3185T= (p.Val1062=)
n.3268T=
n.3264T=
16g.1208025G>ACA276661708CACNA1Hc.3167G>A (p.Cys1056Tyr)
c.3128G>A (p.Cys1043Tyr)
c.*2614G>A (n.*2614G>A)
c.2387G>A (p.Cys796Tyr)
c.*1080G>A (n.*1080G>A)
c.2621G>A (p.Cys874Tyr)
c.218G>A (p.Cys73Tyr)
c.3186G>A (p.Val1062=)
n.3269G>A
n.3265G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208025G>CCA394171639CACNA1Hc.3167G>C (p.Cys1056Ser)
c.3128G>C (p.Cys1043Ser)
c.*2614G>C (n.*2614G>C)
c.2387G>C (p.Cys796Ser)
c.*1080G>C (n.*1080G>C)
c.2621G>C (p.Cys874Ser)
c.218G>C (p.Cys73Ser)
c.3186G>C (p.Val1062=)
n.3269G>C
n.3265G>C
16g.1208025G=CA2201517581CACNA1Hc.3167G= (p.Cys1056=)
c.3128G= (p.Cys1043=)
c.*2614G= (n.*2614G=)
c.2387G= (p.Cys796=)
c.*1080G= (n.*1080G=)
c.2621G= (p.Cys874=)
c.218G= (p.Cys73=)
c.3186G= (p.Val1062=)
n.3269G=
n.3265G=
16g.1208025G>TCA394171643CACNA1Hc.3167G>T (p.Cys1056Phe)
c.3128G>T (p.Cys1043Phe)
c.*2614G>T (n.*2614G>T)
c.2387G>T (p.Cys796Phe)
c.*1080G>T (n.*1080G>T)
c.2621G>T (p.Cys874Phe)
c.218G>T (p.Cys73Phe)
c.3186G>T (p.Val1062=)
n.3269G>T
n.3265G>T
16g.1208026T>ACA394171645CACNA1Hc.3168T>A (p.Cys1056Ter)
c.3129T>A (p.Cys1043Ter)
c.*2615T>A (n.*2615T>A)
c.2388T>A (p.Cys796Ter)
c.*1081T>A (n.*1081T>A)
c.2622T>A (p.Cys874Ter)
c.219T>A (p.Cys73Ter)
c.3187T>A (p.Phe1063Ile)
n.3270T>A
n.3266T>A
 dbSNP
16g.1208026T>CCA492891764CACNA1Hc.3168T>C (p.Cys1056=)
c.3129T>C (p.Cys1043=)
c.*2615T>C (n.*2615T>C)
c.2388T>C (p.Cys796=)
c.*1081T>C (n.*1081T>C)
c.2622T>C (p.Cys874=)
c.219T>C (p.Cys73=)
c.3187T>C (p.Phe1063Leu)
n.3270T>C
n.3266T>C
 ClinVar dbSNP gnomAD v4
16g.1208026T>GCA394171646CACNA1Hc.3168T>G (p.Cys1056Trp)
c.3129T>G (p.Cys1043Trp)
c.*2615T>G (n.*2615T>G)
c.2388T>G (p.Cys796Trp)
c.*1081T>G (n.*1081T>G)
c.2622T>G (p.Cys874Trp)
c.219T>G (p.Cys73Trp)
c.3187T>G (p.Phe1063Val)
n.3270T>G
n.3266T>G
16g.1208026T=CA2201517582CACNA1Hc.3168T= (p.Cys1056=)
c.3129T= (p.Cys1043=)
c.*2615T= (n.*2615T=)
c.2388T= (p.Cys796=)
c.*1081T= (n.*1081T=)
c.2622T= (p.Cys874=)
c.219T= (p.Cys73=)
c.3187T= (p.Phe1063=)
n.3270T=
n.3266T=
16g.1208027T>ACA394171647CACNA1Hc.3169T>A (p.Ser1057Thr)
c.3130T>A (p.Ser1044Thr)
c.*2616T>A (n.*2616T>A)
c.2389T>A (p.Ser797Thr)
c.*1082T>A (n.*1082T>A)
c.2623T>A (p.Ser875Thr)
c.220T>A (p.Ser74Thr)
c.3188T>A (p.Phe1063Tyr)
n.3271T>A
n.3267T>A
16g.1208027T>CCA394171649CACNA1Hc.3169T>C (p.Ser1057Pro)
c.3130T>C (p.Ser1044Pro)
c.*2616T>C (n.*2616T>C)
c.2389T>C (p.Ser797Pro)
c.*1082T>C (n.*1082T>C)
c.2623T>C (p.Ser875Pro)
c.220T>C (p.Ser74Pro)
c.3188T>C (p.Phe1063Ser)
n.3271T>C
n.3267T>C
 dbSNP gnomAD v4
16g.1208027T>GCA394171650CACNA1Hc.3169T>G (p.Ser1057Ala)
c.3130T>G (p.Ser1044Ala)
c.*2616T>G (n.*2616T>G)
c.2389T>G (p.Ser797Ala)
c.*1082T>G (n.*1082T>G)
c.2623T>G (p.Ser875Ala)
c.220T>G (p.Ser74Ala)
c.3188T>G (p.Phe1063Cys)
n.3271T>G
n.3267T>G
16g.1208027T=CA2201517583CACNA1Hc.3169T= (p.Ser1057=)
c.3130T= (p.Ser1044=)
c.*2616T= (n.*2616T=)
c.2389T= (p.Ser797=)
c.*1082T= (n.*1082T=)
c.2623T= (p.Ser875=)
c.220T= (p.Ser74=)
c.3188T= (p.Phe1063=)
n.3271T=
n.3267T=
16g.1208028C>ACA394171652CACNA1Hc.3170C>A (p.Ser1057Tyr)
c.3131C>A (p.Ser1044Tyr)
c.*2617C>A (n.*2617C>A)
c.2390C>A (p.Ser797Tyr)
c.*1083C>A (n.*1083C>A)
c.2624C>A (p.Ser875Tyr)
c.221C>A (p.Ser74Tyr)
c.3189C>A (p.Phe1063Leu)
n.3272C>A
n.3268C>A
16g.1208028C=CA2201517584CACNA1Hc.3170C= (p.Ser1057=)
c.3131C= (p.Ser1044=)
c.*2617C= (n.*2617C=)
c.2390C= (p.Ser797=)
c.*1083C= (n.*1083C=)
c.2624C= (p.Ser875=)
c.221C= (p.Ser74=)
c.3189C= (p.Phe1063=)
n.3272C=
n.3268C=
16g.1208028C>GCA394171653CACNA1Hc.3170C>G (p.Ser1057Cys)
c.3131C>G (p.Ser1044Cys)
c.*2617C>G (n.*2617C>G)
c.2390C>G (p.Ser797Cys)
c.*1083C>G (n.*1083C>G)
c.2624C>G (p.Ser875Cys)
c.221C>G (p.Ser74Cys)
c.3189C>G (p.Phe1063Leu)
n.3272C>G
n.3268C>G
16g.1208028C>TCA394171655CACNA1Hc.3170C>T (p.Ser1057Phe)
c.3131C>T (p.Ser1044Phe)
c.*2617C>T (n.*2617C>T)
c.2390C>T (p.Ser797Phe)
c.*1083C>T (n.*1083C>T)
c.2624C>T (p.Ser875Phe)
c.221C>T (p.Ser74Phe)
c.3189C>T (p.Phe1063=)
n.3272C>T
n.3268C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208029C>ACA492891765CACNA1Hc.3171C>A (p.Ser1057=)
c.3132C>A (p.Ser1044=)
c.*2618C>A (n.*2618C>A)
c.2391C>A (p.Ser797=)
c.*1084C>A (n.*1084C>A)
c.2625C>A (p.Ser875=)
c.222C>A (p.Ser74=)
c.3190C>A (p.Pro1064Thr)
n.3273C>A
n.3269C>A
 gnomAD v4
16g.1208029C=CA2201517585CACNA1Hc.3171C= (p.Ser1057=)
c.3132C= (p.Ser1044=)
c.*2618C= (n.*2618C=)
c.2391C= (p.Ser797=)
c.*1084C= (n.*1084C=)
c.2625C= (p.Ser875=)
c.222C= (p.Ser74=)
c.3190C= (p.Pro1064=)
n.3273C=
n.3269C=
16g.1208029C>GCA492891766CACNA1Hc.3171C>G (p.Ser1057=)
c.3132C>G (p.Ser1044=)
c.*2618C>G (n.*2618C>G)
c.2391C>G (p.Ser797=)
c.*1084C>G (n.*1084C>G)
c.2625C>G (p.Ser875=)
c.222C>G (p.Ser74=)
c.3190C>G (p.Pro1064Ala)
n.3273C>G
n.3269C>G
16g.1208029C>TCA492891767CACNA1Hc.3171C>T (p.Ser1057=)
c.3132C>T (p.Ser1044=)
c.*2618C>T (n.*2618C>T)
c.2391C>T (p.Ser797=)
c.*1084C>T (n.*1084C>T)
c.2625C>T (p.Ser875=)
c.222C>T (p.Ser74=)
c.3190C>T (p.Pro1064Ser)
n.3273C>T
n.3269C>T
 dbSNP gnomAD v4
16g.1208030C>ACA394171658CACNA1Hc.3172C>A (p.Leu1058Met)
c.3133C>A (p.Leu1045Met)
c.*2619C>A (n.*2619C>A)
c.2392C>A (p.Leu798Met)
c.*1085C>A (n.*1085C>A)
c.2626C>A (p.Leu876Met)
c.223C>A (p.Leu75Met)
c.3191C>A (p.Pro1064His)
n.3274C>A
n.3270C>A
16g.1208030C=CA2201517586CACNA1Hc.3172C= (p.Leu1058=)
c.3133C= (p.Leu1045=)
c.*2619C= (n.*2619C=)
c.2392C= (p.Leu798=)
c.*1085C= (n.*1085C=)
c.2626C= (p.Leu876=)
c.223C= (p.Leu75=)
c.3191C= (p.Pro1064=)
n.3274C=
n.3270C=
16g.1208030C>GCA394171660CACNA1Hc.3172C>G (p.Leu1058Val)
c.3133C>G (p.Leu1045Val)
c.*2619C>G (n.*2619C>G)
c.2392C>G (p.Leu798Val)
c.*1085C>G (n.*1085C>G)
c.2626C>G (p.Leu876Val)
c.223C>G (p.Leu75Val)
c.3191C>G (p.Pro1064Arg)
n.3274C>G
n.3270C>G
16g.1208030C>TCA492891768CACNA1Hc.3172C>T (p.Leu1058=)
c.3133C>T (p.Leu1045=)
c.*2619C>T (n.*2619C>T)
c.2392C>T (p.Leu798=)
c.*1085C>T (n.*1085C>T)
c.2626C>T (p.Leu876=)
c.223C>T (p.Leu75=)
c.3191C>T (p.Pro1064Leu)
n.3274C>T
n.3270C>T
 dbSNP gnomAD v2 gnomAD v4
16g.1208031delCA2630927034CACNA1Hc.3173del (p.Leu1058ArgfsTer3)
c.3134del (p.Leu1045ArgfsTer3)
c.*2620del (n.*2620del)
c.2393del (p.Leu798ArgfsTer3)
c.*1086del (n.*1086del)
c.2627del (p.Leu876ArgfsTer3)
c.224del (p.Leu75ArgfsTer3)
c.3192del (p.Gly1065AlafsTer?)
n.3275del
n.3271del
 gnomAD v4
16g.1208031T>ACA394171668CACNA1Hc.3173T>A (p.Leu1058Gln)
c.3134T>A (p.Leu1045Gln)
c.*2620T>A (n.*2620T>A)
c.2393T>A (p.Leu798Gln)
c.*1086T>A (n.*1086T>A)
c.2627T>A (p.Leu876Gln)
c.224T>A (p.Leu75Gln)
c.3192T>A (p.Pro1064=)
n.3275T>A
n.3271T>A
16g.1208031T>CCA394171665CACNA1Hc.3173T>C (p.Leu1058Pro)
c.3134T>C (p.Leu1045Pro)
c.*2620T>C (n.*2620T>C)
c.2393T>C (p.Leu798Pro)
c.*1086T>C (n.*1086T>C)
c.2627T>C (p.Leu876Pro)
c.224T>C (p.Leu75Pro)
c.3192T>C (p.Pro1064=)
n.3275T>C
n.3271T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208031T>GCA394171663CACNA1Hc.3173T>G (p.Leu1058Arg)
c.3134T>G (p.Leu1045Arg)
c.*2620T>G (n.*2620T>G)
c.2393T>G (p.Leu798Arg)
c.*1086T>G (n.*1086T>G)
c.2627T>G (p.Leu876Arg)
c.224T>G (p.Leu75Arg)
c.3192T>G (p.Pro1064=)
n.3275T>G
n.3271T>G
 gnomAD v4
16g.1208031T=CA2201517587CACNA1Hc.3173T= (p.Leu1058=)
c.3134T= (p.Leu1045=)
c.*2620T= (n.*2620T=)
c.2393T= (p.Leu798=)
c.*1086T= (n.*1086T=)
c.2627T= (p.Leu876=)
c.224T= (p.Leu75=)
c.3192T= (p.Pro1064=)
n.3275T=
n.3271T=
16g.1208032G>ACA492891771CACNA1Hc.3174G>A (p.Leu1058=)
c.3135G>A (p.Leu1045=)
c.*2621G>A (n.*2621G>A)
c.2394G>A (p.Leu798=)
c.*1087G>A (n.*1087G>A)
c.2628G>A (p.Leu876=)
c.225G>A (p.Leu75=)
c.3193G>A (p.Gly1065Ser)
n.3276G>A
n.3272G>A
16g.1208032G>CCA492891769CACNA1Hc.3174G>C (p.Leu1058=)
c.3135G>C (p.Leu1045=)
c.*2621G>C (n.*2621G>C)
c.2394G>C (p.Leu798=)
c.*1087G>C (n.*1087G>C)
c.2628G>C (p.Leu876=)
c.225G>C (p.Leu75=)
c.3193G>C (p.Gly1065Arg)
n.3276G>C
n.3272G>C
 gnomAD v4
16g.1208032G>TCA492891770CACNA1Hc.3174G>T (p.Leu1058=)
c.3135G>T (p.Leu1045=)
c.*2621G>T (n.*2621G>T)
c.2394G>T (p.Leu798=)
c.*1087G>T (n.*1087G>T)
c.2628G>T (p.Leu876=)
c.225G>T (p.Leu75=)
c.3193G>T (p.Gly1065Cys)
n.3276G>T
n.3272G>T
16g.1208033G>ACA394171671CACNA1Hc.3175G>A (p.Ala1059Thr)
c.3136G>A (p.Ala1046Thr)
c.*2622G>A (n.*2622G>A)
c.2395G>A (p.Ala799Thr)
c.*1088G>A (n.*1088G>A)
c.2629G>A (p.Ala877Thr)
c.226G>A (p.Ala76Thr)
c.3194G>A (p.Gly1065Asp)
n.3277G>A
n.3273G>A
 gnomAD v4
16g.1208033G>CCA394171673CACNA1Hc.3175G>C (p.Ala1059Pro)
c.3136G>C (p.Ala1046Pro)
c.*2622G>C (n.*2622G>C)
c.2395G>C (p.Ala799Pro)
c.*1088G>C (n.*1088G>C)
c.2629G>C (p.Ala877Pro)
c.226G>C (p.Ala76Pro)
c.3194G>C (p.Gly1065Ala)
n.3277G>C
n.3273G>C
16g.1208033G=CA2201517588CACNA1Hc.3175G= (p.Ala1059=)
c.3136G= (p.Ala1046=)
c.*2622G= (n.*2622G=)
c.2395G= (p.Ala799=)
c.*1088G= (n.*1088G=)
c.2629G= (p.Ala877=)
c.226G= (p.Ala76=)
c.3194G= (p.Gly1065=)
n.3277G=
n.3273G=
16g.1208033G>TCA7800672CACNA1Hc.3175G>T (p.Ala1059Ser)
c.3136G>T (p.Ala1046Ser)
c.*2622G>T (n.*2622G>T)
c.2395G>T (p.Ala799Ser)
c.*1088G>T (n.*1088G>T)
c.2629G>T (p.Ala877Ser)
c.226G>T (p.Ala76Ser)
c.3194G>T (p.Gly1065Val)
n.3277G>T
n.3273G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208034C>ACA394171676CACNA1Hc.3176C>A (p.Ala1059Asp)
c.3137C>A (p.Ala1046Asp)
c.*2623C>A (n.*2623C>A)
c.2396C>A (p.Ala799Asp)
c.*1089C>A (n.*1089C>A)
c.2630C>A (p.Ala877Asp)
c.227C>A (p.Ala76Asp)
c.3195C>A (p.Gly1065=)
n.3278C>A
n.3274C>A
 gnomAD v4
16g.1208034C=CA2201517589CACNA1Hc.3176C= (p.Ala1059=)
c.3137C= (p.Ala1046=)
c.*2623C= (n.*2623C=)
c.2396C= (p.Ala799=)
c.*1089C= (n.*1089C=)
c.2630C= (p.Ala877=)
c.227C= (p.Ala76=)
c.3195C= (p.Gly1065=)
n.3278C=
n.3274C=
16g.1208034C>GCA394171678CACNA1Hc.3176C>G (p.Ala1059Gly)
c.3137C>G (p.Ala1046Gly)
c.*2623C>G (n.*2623C>G)
c.2396C>G (p.Ala799Gly)
c.*1089C>G (n.*1089C>G)
c.2630C>G (p.Ala877Gly)
c.227C>G (p.Ala76Gly)
c.3195C>G (p.Gly1065=)
n.3278C>G
n.3274C>G
16g.1208034C>TCA7800673CACNA1Hc.3176C>T (p.Ala1059Val)
c.3137C>T (p.Ala1046Val)
c.*2623C>T (n.*2623C>T)
c.2396C>T (p.Ala799Val)
c.*1089C>T (n.*1089C>T)
c.2630C>T (p.Ala877Val)
c.227C>T (p.Ala76Val)
c.3195C>T (p.Gly1065=)
n.3278C>T
n.3274C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208035C>ACA492891772CACNA1Hc.3177C>A (p.Ala1059=)
c.3138C>A (p.Ala1046=)
c.*2624C>A (n.*2624C>A)
c.2397C>A (p.Ala799=)
c.*1090C>A (n.*1090C>A)
c.2631C>A (p.Ala877=)
c.228C>A (p.Ala76=)
c.3196C>A (p.Arg1066Ser)
n.3279C>A
n.3275C>A
 gnomAD v4
16g.1208035C=CA2201517590CACNA1Hc.3177C= (p.Ala1059=)
c.3138C= (p.Ala1046=)
c.*2624C= (n.*2624C=)
c.2397C= (p.Ala799=)
c.*1090C= (n.*1090C=)
c.2631C= (p.Ala877=)
c.228C= (p.Ala76=)
c.3196C= (p.Arg1066=)
n.3279C=
n.3275C=
16g.1208035C>GCA492891773CACNA1Hc.3177C>G (p.Ala1059=)
c.3138C>G (p.Ala1046=)
c.*2624C>G (n.*2624C>G)
c.2397C>G (p.Ala799=)
c.*1090C>G (n.*1090C>G)
c.2631C>G (p.Ala877=)
c.228C>G (p.Ala76=)
c.3196C>G (p.Arg1066Gly)
n.3279C>G
n.3275C>G
 ClinVar gnomAD v4
16g.1208035C>TCA7800674CACNA1Hc.3177C>T (p.Ala1059=)
c.3138C>T (p.Ala1046=)
c.*2624C>T (n.*2624C>T)
c.2397C>T (p.Ala799=)
c.*1090C>T (n.*1090C>T)
c.2631C>T (p.Ala877=)
c.228C>T (p.Ala76=)
c.3196C>T (p.Arg1066Cys)
n.3279C>T
n.3275C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208036G>ACA7800675CACNA1Hc.3178G>A (p.Val1060Met)
c.3139G>A (p.Val1047Met)
c.*2625G>A (n.*2625G>A)
c.2398G>A (p.Val800Met)
c.*1091G>A (n.*1091G>A)
c.2632G>A (p.Val878Met)
c.229G>A (p.Val77Met)
c.3197G>A (p.Arg1066His)
n.3280G>A
n.3276G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208036G>CCA394171685CACNA1Hc.3178G>C (p.Val1060Leu)
c.3139G>C (p.Val1047Leu)
c.*2625G>C (n.*2625G>C)
c.2398G>C (p.Val800Leu)
c.*1091G>C (n.*1091G>C)
c.2632G>C (p.Val878Leu)
c.229G>C (p.Val77Leu)
c.3197G>C (p.Arg1066Pro)
n.3280G>C
n.3276G>C
 dbSNP gnomAD v2 gnomAD v4
16g.1208036G=CA2201517591CACNA1Hc.3178G= (p.Val1060=)
c.3139G= (p.Val1047=)
c.*2625G= (n.*2625G=)
c.2398G= (p.Val800=)
c.*1091G= (n.*1091G=)
c.2632G= (p.Val878=)
c.229G= (p.Val77=)
c.3197G= (p.Arg1066=)
n.3280G=
n.3276G=
16g.1208036G>TCA7800676CACNA1Hc.3178G>T (p.Val1060Leu)
c.3139G>T (p.Val1047Leu)
c.*2625G>T (n.*2625G>T)
c.2398G>T (p.Val800Leu)
c.*1091G>T (n.*1091G>T)
c.2632G>T (p.Val878Leu)
c.229G>T (p.Val77Leu)
c.3197G>T (p.Arg1066Leu)
n.3280G>T
n.3276G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208037T>ACA394171726CACNA1Hc.3179T>A (p.Val1060Glu)
c.3140T>A (p.Val1047Glu)
c.*2626T>A (n.*2626T>A)
c.2399T>A (p.Val800Glu)
c.*1092T>A (n.*1092T>A)
c.2633T>A (p.Val878Glu)
c.230T>A (p.Val77Glu)
c.3198T>A (p.Arg1066=)
n.3281T>A
n.3277T>A
16g.1208037T>CCA7800677CACNA1Hc.3179T>C (p.Val1060Ala)
c.3140T>C (p.Val1047Ala)
c.*2626T>C (n.*2626T>C)
c.2399T>C (p.Val800Ala)
c.*1092T>C (n.*1092T>C)
c.2633T>C (p.Val878Ala)
c.230T>C (p.Val77Ala)
c.3198T>C (p.Arg1066=)
n.3281T>C
n.3277T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208037T>GCA394171729CACNA1Hc.3179T>G (p.Val1060Gly)
c.3140T>G (p.Val1047Gly)
c.*2626T>G (n.*2626T>G)
c.2399T>G (p.Val800Gly)
c.*1092T>G (n.*1092T>G)
c.2633T>G (p.Val878Gly)
c.230T>G (p.Val77Gly)
c.3198T>G (p.Arg1066=)
n.3281T>G
n.3277T>G
16g.1208037T=CA2201517592CACNA1Hc.3179T= (p.Val1060=)
c.3140T= (p.Val1047=)
c.*2626T= (n.*2626T=)
c.2399T= (p.Val800=)
c.*1092T= (n.*1092T=)
c.2633T= (p.Val878=)
c.230T= (p.Val77=)
c.3198T= (p.Arg1066=)
n.3281T=
n.3277T=
16g.1208038G>ACA492891774CACNA1Hc.3180G>A (p.Val1060=)
c.3141G>A (p.Val1047=)
c.*2627G>A (n.*2627G>A)
c.2400G>A (p.Val800=)
c.*1093G>A (n.*1093G>A)
c.2634G>A (p.Val878=)
c.231G>A (p.Val77=)
c.3199G>A (p.Asp1067Asn)
n.3282G>A
n.3278G>A
16g.1208038G>CCA492891775CACNA1Hc.3180G>C (p.Val1060=)
c.3141G>C (p.Val1047=)
c.*2627G>C (n.*2627G>C)
c.2400G>C (p.Val800=)
c.*1093G>C (n.*1093G>C)
c.2634G>C (p.Val878=)
c.231G>C (p.Val77=)
c.3199G>C (p.Asp1067His)
n.3282G>C
n.3278G>C
 dbSNP gnomAD v3 gnomAD v4
16g.1208038G=CA2201517593CACNA1Hc.3180G= (p.Val1060=)
c.3141G= (p.Val1047=)
c.*2627G= (n.*2627G=)
c.2400G= (p.Val800=)
c.*1093G= (n.*1093G=)
c.2634G= (p.Val878=)
c.231G= (p.Val77=)
c.3199G= (p.Asp1067=)
n.3282G=
n.3278G=
16g.1208038G>TCA492891776CACNA1Hc.3180G>T (p.Val1060=)
c.3141G>T (p.Val1047=)
c.*2627G>T (n.*2627G>T)
c.2400G>T (p.Val800=)
c.*1093G>T (n.*1093G>T)
c.2634G>T (p.Val878=)
c.231G>T (p.Val77=)
c.3199G>T (p.Asp1067Tyr)
n.3282G>T
n.3278G>T
16g.1208039A=CA2201517594CACNA1Hc.3181A= (p.Thr1061=)
c.3142A= (p.Thr1048=)
c.*2628A= (n.*2628A=)
c.2401A= (p.Thr801=)
c.*1094A= (n.*1094A=)
c.2635A= (p.Thr879=)
c.232A= (p.Thr78=)
c.3200A= (p.Asp1067=)
n.3283A=
n.3279A=
16g.1208039A>CCA394171737CACNA1Hc.3181A>C (p.Thr1061Pro)
c.3142A>C (p.Thr1048Pro)
c.*2628A>C (n.*2628A>C)
c.2401A>C (p.Thr801Pro)
c.*1094A>C (n.*1094A>C)
c.2635A>C (p.Thr879Pro)
c.232A>C (p.Thr78Pro)
c.3200A>C (p.Asp1067Ala)
n.3283A>C
n.3279A>C
16g.1208039A>GCA394171735CACNA1Hc.3181A>G (p.Thr1061Ala)
c.3142A>G (p.Thr1048Ala)
c.*2628A>G (n.*2628A>G)
c.2401A>G (p.Thr801Ala)
c.*1094A>G (n.*1094A>G)
c.2635A>G (p.Thr879Ala)
c.232A>G (p.Thr78Ala)
c.3200A>G (p.Asp1067Gly)
n.3283A>G
n.3279A>G
 gnomAD v4
16g.1208039A>TCA394171732CACNA1Hc.3181A>T (p.Thr1061Ser)
c.3142A>T (p.Thr1048Ser)
c.*2628A>T (n.*2628A>T)
c.2401A>T (p.Thr801Ser)
c.*1094A>T (n.*1094A>T)
c.2635A>T (p.Thr879Ser)
c.232A>T (p.Thr78Ser)
c.3200A>T (p.Asp1067Val)
n.3283A>T
n.3279A>T
 ClinVar dbSNP
16g.1208040C>ACA394171739CACNA1Hc.3182C>A (p.Thr1061Asn)
c.3143C>A (p.Thr1048Asn)
c.*2629C>A (n.*2629C>A)
c.2402C>A (p.Thr801Asn)
c.*1095C>A (n.*1095C>A)
c.2636C>A (p.Thr879Asn)
c.233C>A (p.Thr78Asn)
c.3201C>A (p.Asp1067Glu)
n.3284C>A
n.3280C>A
 ClinVar dbSNP gnomAD v4
16g.1208040C>GCA394171743CACNA1Hc.3182C>G (p.Thr1061Ser)
c.3143C>G (p.Thr1048Ser)
c.*2629C>G (n.*2629C>G)
c.2402C>G (p.Thr801Ser)
c.*1095C>G (n.*1095C>G)
c.2636C>G (p.Thr879Ser)
c.233C>G (p.Thr78Ser)
c.3201C>G (p.Asp1067Glu)
n.3284C>G
n.3280C>G
16g.1208040C>TCA394171741CACNA1Hc.3182C>T (p.Thr1061Ile)
c.3143C>T (p.Thr1048Ile)
c.*2629C>T (n.*2629C>T)
c.2402C>T (p.Thr801Ile)
c.*1095C>T (n.*1095C>T)
c.2636C>T (p.Thr879Ile)
c.233C>T (p.Thr78Ile)
c.3201C>T (p.Asp1067=)
n.3284C>T
n.3280C>T
 gnomAD v4
16g.1208044dupCA2630927049CACNA1Hc.3186dup (p.Asn1063GlnfsTer?)
c.3147dup (p.Asn1050GlnfsTer?)
c.*2633dup (n.*2633dup)
c.2406dup (p.Asn803GlnfsTer?)
c.*1099dup (n.*1099dup)
c.2640dup (p.Asn881GlnfsTer?)
c.237dup (p.Asn80GlnfsTer?)
c.3205dup (p.Gln1069ProfsTer?)
n.3288dup
n.3284dup
 gnomAD v4
16g.1208044delCA2630927050CACNA1Hc.3186del (p.Asn1063ThrfsTer?)
c.3147del (p.Asn1050ThrfsTer?)
c.*2633del (n.*2633del)
c.2406del (p.Asn803ThrfsTer?)
c.*1099del (n.*1099del)
c.2640del (p.Asn881ThrfsTer?)
c.237del (p.Asn80ThrfsTer?)
c.3205del (p.Gln1069AsnfsTer?)
n.3288del
n.3284del
 gnomAD v4
16g.1208041C>ACA492891777CACNA1Hc.3183C>A (p.Thr1061=)
c.3144C>A (p.Thr1048=)
c.*2630C>A (n.*2630C>A)
c.2403C>A (p.Thr801=)
c.*1096C>A (n.*1096C>A)
c.2637C>A (p.Thr879=)
c.234C>A (p.Thr78=)
c.3202C>A (p.Pro1068Thr)
n.3285C>A
n.3281C>A
16g.1208041C=CA2201517595CACNA1Hc.3183C= (p.Thr1061=)
c.3144C= (p.Thr1048=)
c.*2630C= (n.*2630C=)
c.2403C= (p.Thr801=)
c.*1096C= (n.*1096C=)
c.2637C= (p.Thr879=)
c.234C= (p.Thr78=)
c.3202C= (p.Pro1068=)
n.3285C=
n.3281C=
16g.1208041C>GCA492891778CACNA1Hc.3183C>G (p.Thr1061=)
c.3144C>G (p.Thr1048=)
c.*2630C>G (n.*2630C>G)
c.2403C>G (p.Thr801=)
c.*1096C>G (n.*1096C>G)
c.2637C>G (p.Thr879=)
c.234C>G (p.Thr78=)
c.3202C>G (p.Pro1068Ala)
n.3285C>G
n.3281C>G
16g.1208041C>TCA276661730CACNA1Hc.3183C>T (p.Thr1061=)
c.3144C>T (p.Thr1048=)
c.*2630C>T (n.*2630C>T)
c.2403C>T (p.Thr801=)
c.*1096C>T (n.*1096C>T)
c.2637C>T (p.Thr879=)
c.234C>T (p.Thr78=)
c.3202C>T (p.Pro1068Ser)
n.3285C>T
n.3281C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208042C>ACA7800678CACNA1Hc.3184C>A (p.Pro1062Thr)
c.3145C>A (p.Pro1049Thr)
c.*2631C>A (n.*2631C>A)
c.2404C>A (p.Pro802Thr)
c.*1097C>A (n.*1097C>A)
c.2638C>A (p.Pro880Thr)
c.235C>A (p.Pro79Thr)
c.3203C>A (p.Pro1068His)
n.3286C>A
n.3282C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208042C=CA2201517596CACNA1Hc.3184C= (p.Pro1062=)
c.3145C= (p.Pro1049=)
c.*2631C= (n.*2631C=)
c.2404C= (p.Pro802=)
c.*1097C= (n.*1097C=)
c.2638C= (p.Pro880=)
c.235C= (p.Pro79=)
c.3203C= (p.Pro1068=)
n.3286C=
n.3282C=
16g.1208042C>GCA394171746CACNA1Hc.3184C>G (p.Pro1062Ala)
c.3145C>G (p.Pro1049Ala)
c.*2631C>G (n.*2631C>G)
c.2404C>G (p.Pro802Ala)
c.*1097C>G (n.*1097C>G)
c.2638C>G (p.Pro880Ala)
c.235C>G (p.Pro79Ala)
c.3203C>G (p.Pro1068Arg)
n.3286C>G
n.3282C>G
 dbSNP gnomAD v2 gnomAD v4
16g.1208042C>TCA394171747CACNA1Hc.3184C>T (p.Pro1062Ser)
c.3145C>T (p.Pro1049Ser)
c.*2631C>T (n.*2631C>T)
c.2404C>T (p.Pro802Ser)
c.*1097C>T (n.*1097C>T)
c.2638C>T (p.Pro880Ser)
c.235C>T (p.Pro79Ser)
c.3203C>T (p.Pro1068Leu)
n.3286C>T
n.3282C>T
16g.1208043C>ACA394171749CACNA1Hc.3185C>A (p.Pro1062His)
c.3146C>A (p.Pro1049His)
c.*2632C>A (n.*2632C>A)
c.2405C>A (p.Pro802His)
c.*1098C>A (n.*1098C>A)
c.2639C>A (p.Pro880His)
c.236C>A (p.Pro79His)
c.3204C>A (p.Pro1068=)
n.3287C>A
n.3283C>A
 gnomAD v4
16g.1208043C=CA2201517597CACNA1Hc.3185C= (p.Pro1062=)
c.3146C= (p.Pro1049=)
c.*2632C= (n.*2632C=)
c.2405C= (p.Pro802=)
c.*1098C= (n.*1098C=)
c.2639C= (p.Pro880=)
c.236C= (p.Pro79=)
c.3204C= (p.Pro1068=)
n.3287C=
n.3283C=
16g.1208043C>GCA394171752CACNA1Hc.3185C>G (p.Pro1062Arg)
c.3146C>G (p.Pro1049Arg)
c.*2632C>G (n.*2632C>G)
c.2405C>G (p.Pro802Arg)
c.*1098C>G (n.*1098C>G)
c.2639C>G (p.Pro880Arg)
c.236C>G (p.Pro79Arg)
c.3204C>G (p.Pro1068=)
n.3287C>G
n.3283C>G
16g.1208043C>TCA394171755CACNA1Hc.3185C>T (p.Pro1062Leu)
c.3146C>T (p.Pro1049Leu)
c.*2632C>T (n.*2632C>T)
c.2405C>T (p.Pro802Leu)
c.*1098C>T (n.*1098C>T)
c.2639C>T (p.Pro880Leu)
c.236C>T (p.Pro79Leu)
c.3204C>T (p.Pro1068=)
n.3287C>T
n.3283C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208044C>ACA492891779CACNA1Hc.3186C>A (p.Pro1062=)
c.3147C>A (p.Pro1049=)
c.*2633C>A (n.*2633C>A)
c.2406C>A (p.Pro802=)
c.*1099C>A (n.*1099C>A)
c.2640C>A (p.Pro880=)
c.237C>A (p.Pro79=)
c.3205C>A (p.Gln1069Lys)
n.3288C>A
n.3284C>A
 gnomAD v3 gnomAD v4
16g.1208044C=CA2201517598CACNA1Hc.3186C= (p.Pro1062=)
c.3147C= (p.Pro1049=)
c.*2633C= (n.*2633C=)
c.2406C= (p.Pro802=)
c.*1099C= (n.*1099C=)
c.2640C= (p.Pro880=)
c.237C= (p.Pro79=)
c.3205C= (p.Gln1069=)
n.3288C=
n.3284C=
16g.1208044C>GCA492891780CACNA1Hc.3186C>G (p.Pro1062=)
c.3147C>G (p.Pro1049=)
c.*2633C>G (n.*2633C>G)
c.2406C>G (p.Pro802=)
c.*1099C>G (n.*1099C>G)
c.2640C>G (p.Pro880=)
c.237C>G (p.Pro79=)
c.3205C>G (p.Gln1069Glu)
n.3288C>G
n.3284C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208044C>TCA492891781CACNA1Hc.3186C>T (p.Pro1062=)
c.3147C>T (p.Pro1049=)
c.*2633C>T (n.*2633C>T)
c.2406C>T (p.Pro802=)
c.*1099C>T (n.*1099C>T)
c.2640C>T (p.Pro880=)
c.237C>T (p.Pro79=)
c.3205C>T (p.Gln1069Ter)
n.3288C>T
n.3284C>T
 ClinVar dbSNP gnomAD v4
16g.1208045A>CCA394171758CACNA1Hc.3187A>C (p.Asn1063His)
c.3148A>C (p.Asn1050His)
c.*2634A>C (n.*2634A>C)
c.2407A>C (p.Asn803His)
c.*1100A>C (n.*1100A>C)
c.2641A>C (p.Asn881His)
c.238A>C (p.Asn80His)
c.3206A>C (p.Gln1069Pro)
n.3289A>C
n.3285A>C
16g.1208045A>GCA394171760CACNA1Hc.3187A>G (p.Asn1063Asp)
c.3148A>G (p.Asn1050Asp)
c.*2634A>G (n.*2634A>G)
c.2407A>G (p.Asn803Asp)
c.*1100A>G (n.*1100A>G)
c.2641A>G (p.Asn881Asp)
c.238A>G (p.Asn80Asp)
c.3206A>G (p.Gln1069Arg)
n.3289A>G
n.3285A>G
 gnomAD v4
16g.1208045A>TCA394171762CACNA1Hc.3187A>T (p.Asn1063Tyr)
c.3148A>T (p.Asn1050Tyr)
c.*2634A>T (n.*2634A>T)
c.2407A>T (p.Asn803Tyr)
c.*1100A>T (n.*1100A>T)
c.2641A>T (p.Asn881Tyr)
c.238A>T (p.Asn80Tyr)
c.3206A>T (p.Gln1069Leu)
n.3289A>T
n.3285A>T
16g.1208046A=CA2201517599CACNA1Hc.3188A= (p.Asn1063=)
c.3149A= (p.Asn1050=)
c.*2635A= (n.*2635A=)
c.2408A= (p.Asn803=)
c.*1101A= (n.*1101A=)
c.2642A= (p.Asn881=)
c.239A= (p.Asn80=)
c.3207A= (p.Gln1069=)
n.3290A=
n.3286A=
16g.1208046A>CCA394171764CACNA1Hc.3188A>C (p.Asn1063Thr)
c.3149A>C (p.Asn1050Thr)
c.*2635A>C (n.*2635A>C)
c.2408A>C (p.Asn803Thr)
c.*1101A>C (n.*1101A>C)
c.2642A>C (p.Asn881Thr)
c.239A>C (p.Asn80Thr)
c.3207A>C (p.Gln1069His)
n.3290A>C
n.3286A>C
16g.1208046A>GCA394171766CACNA1Hc.3188A>G (p.Asn1063Ser)
c.3149A>G (p.Asn1050Ser)
c.*2635A>G (n.*2635A>G)
c.2408A>G (p.Asn803Ser)
c.*1101A>G (n.*1101A>G)
c.2642A>G (p.Asn881Ser)
c.239A>G (p.Asn80Ser)
c.3207A>G (p.Gln1069=)
n.3290A>G
n.3286A>G
 dbSNP
16g.1208046A>TCA394171768CACNA1Hc.3188A>T (p.Asn1063Ile)
c.3149A>T (p.Asn1050Ile)
c.*2635A>T (n.*2635A>T)
c.2408A>T (p.Asn803Ile)
c.*1101A>T (n.*1101A>T)
c.2642A>T (p.Asn881Ile)
c.239A>T (p.Asn80Ile)
c.3207A>T (p.Gln1069His)
n.3290A>T
n.3286A>T
16g.1208047C>ACA394171774CACNA1Hc.3189C>A (p.Asn1063Lys)
c.3150C>A (p.Asn1050Lys)
c.*2636C>A (n.*2636C>A)
c.2409C>A (p.Asn803Lys)
c.*1102C>A (n.*1102C>A)
c.2643C>A (p.Asn881Lys)
c.240C>A (p.Asn80Lys)
c.3208C>A (p.Arg1070=)
n.3291C>A
n.3287C>A
 gnomAD v4
16g.1208047C=CA2201517600CACNA1Hc.3189C= (p.Asn1063=)
c.3150C= (p.Asn1050=)
c.*2636C= (n.*2636C=)
c.2409C= (p.Asn803=)
c.*1102C= (n.*1102C=)
c.2643C= (p.Asn881=)
c.240C= (p.Asn80=)
c.3208C= (p.Arg1070=)
n.3291C=
n.3287C=
16g.1208047C>GCA394171772CACNA1Hc.3189C>G (p.Asn1063Lys)
c.3150C>G (p.Asn1050Lys)
c.*2636C>G (n.*2636C>G)
c.2409C>G (p.Asn803Lys)
c.*1102C>G (n.*1102C>G)
c.2643C>G (p.Asn881Lys)
c.240C>G (p.Asn80Lys)
c.3208C>G (p.Arg1070Gly)
n.3291C>G
n.3287C>G
 gnomAD v3 gnomAD v4
16g.1208047C>TCA7800679CACNA1Hc.3189C>T (p.Asn1063=)
c.3150C>T (p.Asn1050=)
c.*2636C>T (n.*2636C>T)
c.2409C>T (p.Asn803=)
c.*1102C>T (n.*1102C>T)
c.2643C>T (p.Asn881=)
c.240C>T (p.Asn80=)
c.3208C>T (p.Arg1070Trp)
n.3291C>T
n.3287C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208048G>ACA7800680CACNA1Hc.3190G>A (p.Gly1064Arg)
c.3151G>A (p.Gly1051Arg)
c.*2637G>A (n.*2637G>A)
c.2410G>A (p.Gly804Arg)
c.*1103G>A (n.*1103G>A)
c.2644G>A (p.Gly882Arg)
c.241G>A (p.Gly81Arg)
c.3209G>A (p.Arg1070Gln)
n.3292G>A
n.3288G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208048G>CCA394171778CACNA1Hc.3190G>C (p.Gly1064Arg)
c.3151G>C (p.Gly1051Arg)
c.*2637G>C (n.*2637G>C)
c.2410G>C (p.Gly804Arg)
c.*1103G>C (n.*1103G>C)
c.2644G>C (p.Gly882Arg)
c.241G>C (p.Gly81Arg)
c.3209G>C (p.Arg1070Pro)
n.3292G>C
n.3288G>C
16g.1208048G=CA2201517601CACNA1Hc.3190G= (p.Gly1064=)
c.3151G= (p.Gly1051=)
c.*2637G= (n.*2637G=)
c.2410G= (p.Gly804=)
c.*1103G= (n.*1103G=)
c.2644G= (p.Gly882=)
c.241G= (p.Gly81=)
c.3209G= (p.Arg1070=)
n.3292G=
n.3288G=
16g.1208048G>TCA394171780CACNA1Hc.3190G>T (p.Gly1064Trp)
c.3151G>T (p.Gly1051Trp)
c.*2637G>T (n.*2637G>T)
c.2410G>T (p.Gly804Trp)
c.*1103G>T (n.*1103G>T)
c.2644G>T (p.Gly882Trp)
c.241G>T (p.Gly81Trp)
c.3209G>T (p.Arg1070Leu)
n.3292G>T
n.3288G>T
 gnomAD v4
16g.1208049G>ACA394171784CACNA1Hc.3191G>A (p.Gly1064Glu)
c.3152G>A (p.Gly1051Glu)
c.*2638G>A (n.*2638G>A)
c.2411G>A (p.Gly804Glu)
c.*1104G>A (n.*1104G>A)
c.2645G>A (p.Gly882Glu)
c.242G>A (p.Gly81Glu)
c.3210G>A (p.Arg1070=)
n.3293G>A
n.3289G>A
 dbSNP gnomAD v2 gnomAD v4
16g.1208049G>CCA394171787CACNA1Hc.3191G>C (p.Gly1064Ala)
c.3152G>C (p.Gly1051Ala)
c.*2638G>C (n.*2638G>C)
c.2411G>C (p.Gly804Ala)
c.*1104G>C (n.*1104G>C)
c.2645G>C (p.Gly882Ala)
c.242G>C (p.Gly81Ala)
c.3210G>C (p.Arg1070=)
n.3293G>C
n.3289G>C
16g.1208049G=CA2201517602CACNA1Hc.3191G= (p.Gly1064=)
c.3152G= (p.Gly1051=)
c.*2638G= (n.*2638G=)
c.2411G= (p.Gly804=)
c.*1104G= (n.*1104G=)
c.2645G= (p.Gly882=)
c.242G= (p.Gly81=)
c.3210G= (p.Arg1070=)
n.3293G=
n.3289G=
16g.1208049G>TCA394171788CACNA1Hc.3191G>T (p.Gly1064Val)
c.3152G>T (p.Gly1051Val)
c.*2638G>T (n.*2638G>T)
c.2411G>T (p.Gly804Val)
c.*1104G>T (n.*1104G>T)
c.2645G>T (p.Gly882Val)
c.242G>T (p.Gly81Val)
c.3210G>T (p.Arg1070=)
n.3293G>T
n.3289G>T
16g.1208050G>ACA492891782CACNA1Hc.3192G>A (p.Gly1064=)
c.3153G>A (p.Gly1051=)
c.*2639G>A (n.*2639G>A)
c.2412G>A (p.Gly804=)
c.*1105G>A (n.*1105G>A)
c.2646G>A (p.Gly882=)
c.243G>A (p.Gly81=)
c.3211G>A (p.Ala1071Thr)
n.3294G>A
n.3290G>A
 dbSNP gnomAD v3 gnomAD v4
16g.1208050G>CCA492891783CACNA1Hc.3192G>C (p.Gly1064=)
c.3153G>C (p.Gly1051=)
c.*2639G>C (n.*2639G>C)
c.2412G>C (p.Gly804=)
c.*1105G>C (n.*1105G>C)
c.2646G>C (p.Gly882=)
c.243G>C (p.Gly81=)
c.3211G>C (p.Ala1071Pro)
n.3294G>C
n.3290G>C
16g.1208050G=CA2201517603CACNA1Hc.3192G= (p.Gly1064=)
c.3153G= (p.Gly1051=)
c.*2639G= (n.*2639G=)
c.2412G= (p.Gly804=)
c.*1105G= (n.*1105G=)
c.2646G= (p.Gly882=)
c.243G= (p.Gly81=)
c.3211G= (p.Ala1071=)
n.3294G=
n.3290G=
16g.1208050G>TCA492891784CACNA1Hc.3192G>T (p.Gly1064=)
c.3153G>T (p.Gly1051=)
c.*2639G>T (n.*2639G>T)
c.2412G>T (p.Gly804=)
c.*1105G>T (n.*1105G>T)
c.2646G>T (p.Gly882=)
c.243G>T (p.Gly81=)
c.3211G>T (p.Ala1071Ser)
n.3294G>T
n.3290G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208051C>ACA394171790CACNA1Hc.3193C>A (p.His1065Asn)
c.3154C>A (p.His1052Asn)
c.*2640C>A (n.*2640C>A)
c.2413C>A (p.His805Asn)
c.*1106C>A (n.*1106C>A)
c.2647C>A (p.His883Asn)
c.244C>A (p.His82Asn)
c.3212C>A (p.Ala1071Glu)
n.3295C>A
n.3291C>A
16g.1208051C=CA2201517604CACNA1Hc.3193C= (p.His1065=)
c.3154C= (p.His1052=)
c.*2640C= (n.*2640C=)
c.2413C= (p.His805=)
c.*1106C= (n.*1106C=)
c.2647C= (p.His883=)
c.244C= (p.His82=)
c.3212C= (p.Ala1071=)
n.3295C=
n.3291C=
16g.1208051C>GCA394171791CACNA1Hc.3193C>G (p.His1065Asp)
c.3154C>G (p.His1052Asp)
c.*2640C>G (n.*2640C>G)
c.2413C>G (p.His805Asp)
c.*1106C>G (n.*1106C>G)
c.2647C>G (p.His883Asp)
c.244C>G (p.His82Asp)
c.3212C>G (p.Ala1071Gly)
n.3295C>G
n.3291C>G
 dbSNP gnomAD v2 gnomAD v4
16g.1208051C>TCA394171793CACNA1Hc.3193C>T (p.His1065Tyr)
c.3154C>T (p.His1052Tyr)
c.*2640C>T (n.*2640C>T)
c.2413C>T (p.His805Tyr)
c.*1106C>T (n.*1106C>T)
c.2647C>T (p.His883Tyr)
c.244C>T (p.His82Tyr)
c.3212C>T (p.Ala1071Val)
n.3295C>T
n.3291C>T
 dbSNP
16g.1208052A>CCA394171795CACNA1Hc.3194A>C (p.His1065Pro)
c.3155A>C (p.His1052Pro)
c.*2641A>C (n.*2641A>C)
c.2414A>C (p.His805Pro)
c.*1107A>C (n.*1107A>C)
c.2648A>C (p.His883Pro)
c.245A>C (p.His82Pro)
c.3213A>C (p.Ala1071=)
n.3296A>C
n.3292A>C
16g.1208052A>GCA394171797CACNA1Hc.3194A>G (p.His1065Arg)
c.3155A>G (p.His1052Arg)
c.*2641A>G (n.*2641A>G)
c.2414A>G (p.His805Arg)
c.*1107A>G (n.*1107A>G)
c.2648A>G (p.His883Arg)
c.245A>G (p.His82Arg)
c.3213A>G (p.Ala1071=)
n.3296A>G
n.3292A>G
16g.1208052A>TCA394171799CACNA1Hc.3194A>T (p.His1065Leu)
c.3155A>T (p.His1052Leu)
c.*2641A>T (n.*2641A>T)
c.2414A>T (p.His805Leu)
c.*1107A>T (n.*1107A>T)
c.2648A>T (p.His883Leu)
c.245A>T (p.His82Leu)
c.3213A>T (p.Ala1071=)
n.3296A>T
n.3292A>T
16g.1208053C>ACA394171801CACNA1Hc.3195C>A (p.His1065Gln)
c.3156C>A (p.His1052Gln)
c.*2642C>A (n.*2642C>A)
c.2415C>A (p.His805Gln)
c.*1108C>A (n.*1108C>A)
c.2649C>A (p.His883Gln)
c.246C>A (p.His82Gln)
c.3214C>A (p.Pro1072Thr)
n.3297C>A
n.3293C>A
 gnomAD v4
16g.1208053C=CA2201517605CACNA1Hc.3195C= (p.His1065=)
c.3156C= (p.His1052=)
c.*2642C= (n.*2642C=)
c.2415C= (p.His805=)
c.*1108C= (n.*1108C=)
c.2649C= (p.His883=)
c.246C= (p.His82=)
c.3214C= (p.Pro1072=)
n.3297C=
n.3293C=
16g.1208053C>GCA394171802CACNA1Hc.3195C>G (p.His1065Gln)
c.3156C>G (p.His1052Gln)
c.*2642C>G (n.*2642C>G)
c.2415C>G (p.His805Gln)
c.*1108C>G (n.*1108C>G)
c.2649C>G (p.His883Gln)
c.246C>G (p.His82Gln)
c.3214C>G (p.Pro1072Ala)
n.3297C>G
n.3293C>G
 ClinVar dbSNP
16g.1208053C>TCA492891785CACNA1Hc.3195C>T (p.His1065=)
c.3156C>T (p.His1052=)
c.*2642C>T (n.*2642C>T)
c.2415C>T (p.His805=)
c.*1108C>T (n.*1108C>T)
c.2649C>T (p.His883=)
c.246C>T (p.His82=)
c.3214C>T (p.Pro1072Ser)
n.3297C>T
n.3293C>T
 gnomAD v4
16g.1208054C>ACA394171804CACNA1Hc.3196C>A (p.Leu1066Met)
c.3157C>A (p.Leu1053Met)
c.*2643C>A (n.*2643C>A)
c.2416C>A (p.Leu806Met)
c.*1109C>A (n.*1109C>A)
c.2650C>A (p.Leu884Met)
c.247C>A (p.Leu83Met)
c.3215C>A (p.Pro1072His)
n.3298C>A
n.3294C>A
 gnomAD v4
16g.1208054C>GCA394171806CACNA1Hc.3196C>G (p.Leu1066Val)
c.3157C>G (p.Leu1053Val)
c.*2643C>G (n.*2643C>G)
c.2416C>G (p.Leu806Val)
c.*1109C>G (n.*1109C>G)
c.2650C>G (p.Leu884Val)
c.247C>G (p.Leu83Val)
c.3215C>G (p.Pro1072Arg)
n.3298C>G
n.3294C>G
16g.1208054C>TCA492891786CACNA1Hc.3196C>T (p.Leu1066=)
c.3157C>T (p.Leu1053=)
c.*2643C>T (n.*2643C>T)
c.2416C>T (p.Leu806=)
c.*1109C>T (n.*1109C>T)
c.2650C>T (p.Leu884=)
c.247C>T (p.Leu83=)
c.3215C>T (p.Pro1072Leu)
n.3298C>T
n.3294C>T
 ClinVar dbSNP gnomAD v4
16g.1208055T>ACA394171808CACNA1Hc.3197T>A (p.Leu1066Gln)
c.3158T>A (p.Leu1053Gln)
c.*2644T>A (n.*2644T>A)
c.2417T>A (p.Leu806Gln)
c.*1110T>A (n.*1110T>A)
c.2651T>A (p.Leu884Gln)
c.248T>A (p.Leu83Gln)
c.3216T>A (p.Pro1072=)
n.3299T>A
n.3295T>A
16g.1208055T>CCA7800681CACNA1Hc.3197T>C (p.Leu1066Pro)
c.3158T>C (p.Leu1053Pro)
c.*2644T>C (n.*2644T>C)
c.2417T>C (p.Leu806Pro)
c.*1110T>C (n.*1110T>C)
c.2651T>C (p.Leu884Pro)
c.248T>C (p.Leu83Pro)
c.3216T>C (p.Pro1072=)
n.3299T>C
n.3295T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208055T>GCA394171811CACNA1Hc.3197T>G (p.Leu1066Arg)
c.3158T>G (p.Leu1053Arg)
c.*2644T>G (n.*2644T>G)
c.2417T>G (p.Leu806Arg)
c.*1110T>G (n.*1110T>G)
c.2651T>G (p.Leu884Arg)
c.248T>G (p.Leu83Arg)
c.3216T>G (p.Pro1072=)
n.3299T>G
n.3295T>G
16g.1208055T=CA2201517606CACNA1Hc.3197T= (p.Leu1066=)
c.3158T= (p.Leu1053=)
c.*2644T= (n.*2644T=)
c.2417T= (p.Leu806=)
c.*1110T= (n.*1110T=)
c.2651T= (p.Leu884=)
c.248T= (p.Leu83=)
c.3216T= (p.Pro1072=)
n.3299T=
n.3295T=
16g.1208056G>ACA492891787CACNA1Hc.3198G>A (p.Leu1066=)
c.3159G>A (p.Leu1053=)
c.*2645G>A (n.*2645G>A)
c.2418G>A (p.Leu806=)
c.*1111G>A (n.*1111G>A)
c.2652G>A (p.Leu884=)
c.249G>A (p.Leu83=)
c.3217G>A (p.Gly1073Arg)
n.3300G>A
n.3296G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208056G>CCA492891788CACNA1Hc.3198G>C (p.Leu1066=)
c.3159G>C (p.Leu1053=)
c.*2645G>C (n.*2645G>C)
c.2418G>C (p.Leu806=)
c.*1111G>C (n.*1111G>C)
c.2652G>C (p.Leu884=)
c.249G>C (p.Leu83=)
c.3217G>C (p.Gly1073Arg)
n.3300G>C
n.3296G>C
16g.1208056G=CA2201517607CACNA1Hc.3198G= (p.Leu1066=)
c.3159G= (p.Leu1053=)
c.*2645G= (n.*2645G=)
c.2418G= (p.Leu806=)
c.*1111G= (n.*1111G=)
c.2652G= (p.Leu884=)
c.249G= (p.Leu83=)
c.3217G= (p.Gly1073=)
n.3300G=
n.3296G=
16g.1208056G>TCA492891789CACNA1Hc.3198G>T (p.Leu1066=)
c.3159G>T (p.Leu1053=)
c.*2645G>T (n.*2645G>T)
c.2418G>T (p.Leu806=)
c.*1111G>T (n.*1111G>T)
c.2652G>T (p.Leu884=)
c.249G>T (p.Leu83=)
c.3217G>T (p.Gly1073Ter)
n.3300G>T
n.3296G>T
 gnomAD v4
16g.1208057G>ACA394171813CACNA1Hc.3199G>A (p.Glu1067Lys)
c.3160G>A (p.Glu1054Lys)
c.*2646G>A (n.*2646G>A)
c.2419G>A (p.Glu807Lys)
c.*1112G>A (n.*1112G>A)
c.2653G>A (p.Glu885Lys)
c.250G>A (p.Glu84Lys)
c.3218G>A (p.Gly1073Glu)
n.3301G>A
n.3297G>A
16g.1208057G>CCA7800682CACNA1Hc.3199G>C (p.Glu1067Gln)
c.3160G>C (p.Glu1054Gln)
c.*2646G>C (n.*2646G>C)
c.2419G>C (p.Glu807Gln)
c.*1112G>C (n.*1112G>C)
c.2653G>C (p.Glu885Gln)
c.250G>C (p.Glu84Gln)
c.3218G>C (p.Gly1073Ala)
n.3301G>C
n.3297G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208057G=CA2201517608CACNA1Hc.3199G= (p.Glu1067=)
c.3160G= (p.Glu1054=)
c.*2646G= (n.*2646G=)
c.2419G= (p.Glu807=)
c.*1112G= (n.*1112G=)
c.2653G= (p.Glu885=)
c.250G= (p.Glu84=)
c.3218G= (p.Gly1073=)
n.3301G=
n.3297G=
16g.1208057G>TCA394171818CACNA1Hc.3199G>T (p.Glu1067Ter)
c.3160G>T (p.Glu1054Ter)
c.*2646G>T (n.*2646G>T)
c.2419G>T (p.Glu807Ter)
c.*1112G>T (n.*1112G>T)
c.2653G>T (p.Glu885Ter)
c.250G>T (p.Glu84Ter)
c.3218G>T (p.Gly1073Val)
n.3301G>T
n.3297G>T
 dbSNP
16g.1208058A=CA2201517609CACNA1Hc.3200A= (p.Glu1067=)
c.3161A= (p.Glu1054=)
c.*2647A= (n.*2647A=)
c.2420A= (p.Glu807=)
c.*1113A= (n.*1113A=)
c.2654A= (p.Glu885=)
c.251A= (p.Glu84=)
c.3219A= (p.Gly1073=)
n.3302A=
n.3298A=
16g.1208058A>CCA394171820CACNA1Hc.3200A>C (p.Glu1067Ala)
c.3161A>C (p.Glu1054Ala)
c.*2647A>C (n.*2647A>C)
c.2420A>C (p.Glu807Ala)
c.*1113A>C (n.*1113A>C)
c.2654A>C (p.Glu885Ala)
c.251A>C (p.Glu84Ala)
c.3219A>C (p.Gly1073=)
n.3302A>C
n.3298A>C
16g.1208058A>GCA7800683CACNA1Hc.3200A>G (p.Glu1067Gly)
c.3161A>G (p.Glu1054Gly)
c.*2647A>G (n.*2647A>G)
c.2420A>G (p.Glu807Gly)
c.*1113A>G (n.*1113A>G)
c.2654A>G (p.Glu885Gly)
c.251A>G (p.Glu84Gly)
c.3219A>G (p.Gly1073=)
n.3302A>G
n.3298A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208058A>TCA394171822CACNA1Hc.3200A>T (p.Glu1067Val)
c.3161A>T (p.Glu1054Val)
c.*2647A>T (n.*2647A>T)
c.2420A>T (p.Glu807Val)
c.*1113A>T (n.*1113A>T)
c.2654A>T (p.Glu885Val)
c.251A>T (p.Glu84Val)
c.3219A>T (p.Gly1073=)
n.3302A>T
n.3298A>T
16g.1208058_1208059delinsAGCA2201517610CACNA1Hc.3200_3201delinsAG (p.Glu1067=)
c.3161_3162delinsAG (p.Glu1054=)
c.*2647_*2648delinsAG (n.*2647_*2648delinsAG)
c.2420_2421delinsAG (p.Glu807=)
c.*1113_*1114delinsAG (n.*1113_*1114delinsAG)
c.2654_2655delinsAG (p.Glu885=)
c.251_252delinsAG (p.Glu84=)
c.3219_3220delinsAG (p.Gly1073=)
n.3302_3303delinsAG
n.3298_3299delinsAG
16g.1208059G>ACA492891790CACNA1Hc.3201G>A (p.Glu1067=)
c.3162G>A (p.Glu1054=)
c.*2648G>A (n.*2648G>A)
c.2421G>A (p.Glu807=)
c.*1114G>A (n.*1114G>A)
c.2655G>A (p.Glu885=)
c.252G>A (p.Glu84=)
c.3220G>A (p.Gly1074Arg)
n.3303G>A
n.3299G>A
 gnomAD v4
16g.1208059G>CCA394171824CACNA1Hc.3201G>C (p.Glu1067Asp)
c.3162G>C (p.Glu1054Asp)
c.*2648G>C (n.*2648G>C)
c.2421G>C (p.Glu807Asp)
c.*1114G>C (n.*1114G>C)
c.2655G>C (p.Glu885Asp)
c.252G>C (p.Glu84Asp)
c.3220G>C (p.Gly1074Arg)
n.3303G>C
n.3299G>C
16g.1208059G>TCA394171826CACNA1Hc.3201G>T (p.Glu1067Asp)
c.3162G>T (p.Glu1054Asp)
c.*2648G>T (n.*2648G>T)
c.2421G>T (p.Glu807Asp)
c.*1114G>T (n.*1114G>T)
c.2655G>T (p.Glu885Asp)
c.252G>T (p.Glu84Asp)
c.3220G>T (p.Gly1074Trp)
n.3303G>T
n.3299G>T
 gnomAD v4
16g.1208061delCA2201517611CACNA1Hc.3203del (p.Gly1068AspfsTer?)
c.3164del (p.Gly1055AspfsTer?)
c.*2650del (n.*2650del)
c.2423del (p.Gly808AspfsTer?)
c.*1116del (n.*1116del)
c.2657del (p.Gly886AspfsTer?)
c.254del (p.Gly85AspfsTer?)
c.3222del (p.Thr1075ArgfsTer?)
n.3305del
n.3301del
 dbSNP
16g.1208060G>ACA394171834CACNA1Hc.3202G>A (p.Gly1068Arg)
c.3163G>A (p.Gly1055Arg)
c.*2649G>A (n.*2649G>A)
c.2422G>A (p.Gly808Arg)
c.*1115G>A (n.*1115G>A)
c.2656G>A (p.Gly886Arg)
c.253G>A (p.Gly85Arg)
c.3221G>A (p.Gly1074Glu)
n.3304G>A
n.3300G>A
 gnomAD v4
16g.1208060G>CCA394171829CACNA1Hc.3202G>C (p.Gly1068Arg)
c.3163G>C (p.Gly1055Arg)
c.*2649G>C (n.*2649G>C)
c.2422G>C (p.Gly808Arg)
c.*1115G>C (n.*1115G>C)
c.2656G>C (p.Gly886Arg)
c.253G>C (p.Gly85Arg)
c.3221G>C (p.Gly1074Ala)
n.3304G>C
n.3300G>C
16g.1208060G=CA2201517612CACNA1Hc.3202G= (p.Gly1068=)
c.3163G= (p.Gly1055=)
c.*2649G= (n.*2649G=)
c.2422G= (p.Gly808=)
c.*1115G= (n.*1115G=)
c.2656G= (p.Gly886=)
c.253G= (p.Gly85=)
c.3221G= (p.Gly1074=)
n.3304G=
n.3300G=
16g.1208060G>TCA394171831CACNA1Hc.3202G>T (p.Gly1068Ter)
c.3163G>T (p.Gly1055Ter)
c.*2649G>T (n.*2649G>T)
c.2422G>T (p.Gly808Ter)
c.*1115G>T (n.*1115G>T)
c.2656G>T (p.Gly886Ter)
c.253G>T (p.Gly85Ter)
c.3221G>T (p.Gly1074Val)
n.3304G>T
n.3300G>T
 dbSNP
16g.1208061G>ACA394171837CACNA1Hc.3203G>A (p.Gly1068Glu)
c.3164G>A (p.Gly1055Glu)
c.*2650G>A (n.*2650G>A)
c.2423G>A (p.Gly808Glu)
c.*1116G>A (n.*1116G>A)
c.2657G>A (p.Gly886Glu)
c.254G>A (p.Gly85Glu)
c.3222G>A (p.Gly1074=)
n.3305G>A
n.3301G>A
 ClinVar gnomAD v4
16g.1208061G>CCA394171839CACNA1Hc.3203G>C (p.Gly1068Ala)
c.3164G>C (p.Gly1055Ala)
c.*2650G>C (n.*2650G>C)
c.2423G>C (p.Gly808Ala)
c.*1116G>C (n.*1116G>C)
c.2657G>C (p.Gly886Ala)
c.254G>C (p.Gly85Ala)
c.3222G>C (p.Gly1074=)
n.3305G>C
n.3301G>C
16g.1208061G>TCA394171840CACNA1Hc.3203G>T (p.Gly1068Val)
c.3164G>T (p.Gly1055Val)
c.*2650G>T (n.*2650G>T)
c.2423G>T (p.Gly808Val)
c.*1116G>T (n.*1116G>T)
c.2657G>T (p.Gly886Val)
c.254G>T (p.Gly85Val)
c.3222G>T (p.Gly1074=)
n.3305G>T
n.3301G>T
 gnomAD v4
16g.1208062A=CA2201517613CACNA1Hc.3204A= (p.Gly1068=)
c.3165A= (p.Gly1055=)
c.*2651A= (n.*2651A=)
c.2424A= (p.Gly808=)
c.*1117A= (n.*1117A=)
c.2658A= (p.Gly886=)
c.255A= (p.Gly85=)
c.3223A= (p.Thr1075=)
n.3306A=
n.3302A=
16g.1208062A>CCA492891965CACNA1Hc.3204A>C (p.Gly1068=)
c.3165A>C (p.Gly1055=)
c.*2651A>C (n.*2651A>C)
c.2424A>C (p.Gly808=)
c.*1117A>C (n.*1117A>C)
c.2658A>C (p.Gly886=)
c.255A>C (p.Gly85=)
c.3223A>C (p.Thr1075Pro)
n.3306A>C
n.3302A>C
 dbSNP
16g.1208062A>GCA492891967CACNA1Hc.3204A>G (p.Gly1068=)
c.3165A>G (p.Gly1055=)
c.*2651A>G (n.*2651A>G)
c.2424A>G (p.Gly808=)
c.*1117A>G (n.*1117A>G)
c.2658A>G (p.Gly886=)
c.255A>G (p.Gly85=)
c.3223A>G (p.Thr1075Ala)
n.3306A>G
n.3302A>G
16g.1208062A>TCA492891968CACNA1Hc.3204A>T (p.Gly1068=)
c.3165A>T (p.Gly1055=)
c.*2651A>T (n.*2651A>T)
c.2424A>T (p.Gly808=)
c.*1117A>T (n.*1117A>T)
c.2658A>T (p.Gly886=)
c.255A>T (p.Gly85=)
c.3223A>T (p.Thr1075Ser)
n.3306A>T
n.3302A>T
16g.1208063C>ACA7800684CACNA1Hc.3205C>A (p.Arg1069=)
c.3166C>A (p.Arg1056=)
c.*2652C>A (n.*2652C>A)
c.2425C>A (p.Arg809=)
c.*1118C>A (n.*1118C>A)
c.2659C>A (p.Arg887=)
c.256C>A (p.Arg86=)
c.3224C>A (p.Thr1075Lys)
n.3307C>A
n.3303C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208063C=CA2201517614CACNA1Hc.3205C= (p.Arg1069=)
c.3166C= (p.Arg1056=)
c.*2652C= (n.*2652C=)
c.2425C= (p.Arg809=)
c.*1118C= (n.*1118C=)
c.2659C= (p.Arg887=)
c.256C= (p.Arg86=)
c.3224C= (p.Thr1075=)
n.3307C=
n.3303C=
16g.1208063C>GCA394171843CACNA1Hc.3205C>G (p.Arg1069Gly)
c.3166C>G (p.Arg1056Gly)
c.*2652C>G (n.*2652C>G)
c.2425C>G (p.Arg809Gly)
c.*1118C>G (n.*1118C>G)
c.2659C>G (p.Arg887Gly)
c.256C>G (p.Arg86Gly)
c.3224C>G (p.Thr1075Arg)
n.3307C>G
n.3303C>G
16g.1208063C>TCA394171845CACNA1Hc.3205C>T (p.Arg1069Ter)
c.3166C>T (p.Arg1056Ter)
c.*2652C>T (n.*2652C>T)
c.2425C>T (p.Arg809Ter)
c.*1118C>T (n.*1118C>T)
c.2659C>T (p.Arg887Ter)
c.256C>T (p.Arg86Ter)
c.3224C>T (p.Thr1075Met)
n.3307C>T
n.3303C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1208064G>ACA7800685CACNA1Hc.3206G>A (p.Arg1069Gln)
c.3167G>A (p.Arg1056Gln)
c.*2653G>A (n.*2653G>A)
c.2426G>A (p.Arg809Gln)
c.*1119G>A (n.*1119G>A)
c.2660G>A (p.Arg887Gln)
c.257G>A (p.Arg86Gln)
c.3225G>A (p.Thr1075=)
n.3308G>A
n.3304G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208064G>CCA394171848CACNA1Hc.3206G>C (p.Arg1069Pro)
c.3167G>C (p.Arg1056Pro)
c.*2653G>C (n.*2653G>C)
c.2426G>C (p.Arg809Pro)
c.*1119G>C (n.*1119G>C)
c.2660G>C (p.Arg887Pro)
c.257G>C (p.Arg86Pro)
c.3225G>C (p.Thr1075=)
n.3308G>C
n.3304G>C
16g.1208064G=CA2201517615CACNA1Hc.3206G= (p.Arg1069=)
c.3167G= (p.Arg1056=)
c.*2653G= (n.*2653G=)
c.2426G= (p.Arg809=)
c.*1119G= (n.*1119G=)
c.2660G= (p.Arg887=)
c.257G= (p.Arg86=)
c.3225G= (p.Thr1075=)
n.3308G=
n.3304G=
16g.1208064G>TCA394171851CACNA1Hc.3206G>T (p.Arg1069Leu)
c.3167G>T (p.Arg1056Leu)
c.*2653G>T (n.*2653G>T)
c.2426G>T (p.Arg809Leu)
c.*1119G>T (n.*1119G>T)
c.2660G>T (p.Arg887Leu)
c.257G>T (p.Arg86Leu)
c.3225G>T (p.Thr1075=)
n.3308G>T
n.3304G>T
16g.1208065A>CCA492891976CACNA1Hc.3207A>C (p.Arg1069=)
c.3168A>C (p.Arg1056=)
c.*2654A>C (n.*2654A>C)
c.2427A>C (p.Arg809=)
c.*1120A>C (n.*1120A>C)
c.2661A>C (p.Arg887=)
c.258A>C (p.Arg86=)
c.3226A>C (p.Arg1076=)
n.3309A>C
n.3305A>C
 gnomAD v4
16g.1208065A>GCA492891978CACNA1Hc.3207A>G (p.Arg1069=)
c.3168A>G (p.Arg1056=)
c.*2654A>G (n.*2654A>G)
c.2427A>G (p.Arg809=)
c.*1120A>G (n.*1120A>G)
c.2661A>G (p.Arg887=)
c.258A>G (p.Arg86=)
c.3226A>G (p.Arg1076Gly)
n.3309A>G
n.3305A>G
16g.1208065A>TCA492891980CACNA1Hc.3207A>T (p.Arg1069=)
c.3168A>T (p.Arg1056=)
c.*2654A>T (n.*2654A>T)
c.2427A>T (p.Arg809=)
c.*1120A>T (n.*1120A>T)
c.2661A>T (p.Arg887=)
c.258A>T (p.Arg86=)
c.3226A>T (p.Arg1076Trp)
n.3309A>T
n.3305A>T
16g.1208066G>ACA394171854CACNA1Hc.3208G>A (p.Gly1070Ser)
c.3169G>A (p.Gly1057Ser)
c.*2655G>A (n.*2655G>A)
c.2428G>A (p.Gly810Ser)
c.*1121G>A (n.*1121G>A)
c.2662G>A (p.Gly888Ser)
c.259G>A (p.Gly87Ser)
c.3227G>A (p.Arg1076Lys)
n.3310G>A
n.3306G>A
 gnomAD v4
16g.1208066G>CCA394171856CACNA1Hc.3208G>C (p.Gly1070Arg)
c.3169G>C (p.Gly1057Arg)
c.*2655G>C (n.*2655G>C)
c.2428G>C (p.Gly810Arg)
c.*1121G>C (n.*1121G>C)
c.2662G>C (p.Gly888Arg)
c.259G>C (p.Gly87Arg)
c.3227G>C (p.Arg1076Thr)
n.3310G>C
n.3306G>C
16g.1208066G>TCA394171858CACNA1Hc.3208G>T (p.Gly1070Cys)
c.3169G>T (p.Gly1057Cys)
c.*2655G>T (n.*2655G>T)
c.2428G>T (p.Gly810Cys)
c.*1121G>T (n.*1121G>T)
c.2662G>T (p.Gly888Cys)
c.259G>T (p.Gly87Cys)
c.3227G>T (p.Arg1076Met)
n.3310G>T
n.3306G>T
 gnomAD v4
16g.1208066_1208069delinsGGCACA2201517616CACNA1Hc.3208_3211delinsGGCA (p.Gly1070=)
c.3169_3172delinsGGCA (p.Gly1057=)
c.*2655_*2658delinsGGCA (n.*2655_*2658delinsGGCA)
c.2428_2431delinsGGCA (p.Gly810=)
c.*1121_*1124delinsGGCA (n.*1121_*1124delinsGGCA)
c.2662_2665delinsGGCA (p.Gly888=)
c.259_262delinsGGCA (p.Gly87=)
c.3227_3230delinsGGCA (p.Arg1076=)
n.3310_3313delinsGGCA
n.3306_3309delinsGGCA
16g.1208067G>ACA394171860CACNA1Hc.3209G>A (p.Gly1070Asp)
c.3170G>A (p.Gly1057Asp)
c.*2656G>A (n.*2656G>A)
c.2429G>A (p.Gly810Asp)
c.*1122G>A (n.*1122G>A)
c.2663G>A (p.Gly888Asp)
c.260G>A (p.Gly87Asp)
c.3228G>A (p.Arg1076=)
n.3311G>A
n.3307G>A
 dbSNP gnomAD v4
16g.1208067G>CCA394171863CACNA1Hc.3209G>C (p.Gly1070Ala)
c.3170G>C (p.Gly1057Ala)
c.*2656G>C (n.*2656G>C)
c.2429G>C (p.Gly810Ala)
c.*1122G>C (n.*1122G>C)
c.2663G>C (p.Gly888Ala)
c.260G>C (p.Gly87Ala)
c.3228G>C (p.Arg1076Ser)
n.3311G>C
n.3307G>C
16g.1208067G>TCA394171862CACNA1Hc.3209G>T (p.Gly1070Val)
c.3170G>T (p.Gly1057Val)
c.*2656G>T (n.*2656G>T)
c.2429G>T (p.Gly810Val)
c.*1122G>T (n.*1122G>T)
c.2663G>T (p.Gly888Val)
c.260G>T (p.Gly87Val)
c.3228G>T (p.Arg1076Ser)
n.3311G>T
n.3307G>T
16g.1208069_1208071delCA2201517617CACNA1Hc.3211_3213del (p.Ser1071del)
c.3172_3174del (p.Ser1058del)
c.*2658_*2660del (n.*2658_*2660del)
c.2431_2433del (p.Ser811del)
c.*1124_*1126del (n.*1124_*1126del)
c.2665_2667del (p.Ser889del)
c.262_264del (p.Ser88del)
c.3230_3232del (p.Gln1077del)
n.3313_3315del
n.3309_3311del
 dbSNP gnomAD v4
16g.1208068C>ACA492891986CACNA1Hc.3210C>A (p.Gly1070=)
c.3171C>A (p.Gly1057=)
c.*2657C>A (n.*2657C>A)
c.2430C>A (p.Gly810=)
c.*1123C>A (n.*1123C>A)
c.2664C>A (p.Gly888=)
c.261C>A (p.Gly87=)
c.3229C>A (p.Gln1077Lys)
n.3312C>A
n.3308C>A
 gnomAD v4
16g.1208068C>GCA492891988CACNA1Hc.3210C>G (p.Gly1070=)
c.3171C>G (p.Gly1057=)
c.*2657C>G (n.*2657C>G)
c.2430C>G (p.Gly810=)
c.*1123C>G (n.*1123C>G)
c.2664C>G (p.Gly888=)
c.261C>G (p.Gly87=)
c.3229C>G (p.Gln1077Glu)
n.3312C>G
n.3308C>G
16g.1208068C>TCA492891990CACNA1Hc.3210C>T (p.Gly1070=)
c.3171C>T (p.Gly1057=)
c.*2657C>T (n.*2657C>T)
c.2430C>T (p.Gly810=)
c.*1123C>T (n.*1123C>T)
c.2664C>T (p.Gly888=)
c.261C>T (p.Gly87=)
c.3229C>T (p.Gln1077Ter)
n.3312C>T
n.3308C>T
 gnomAD v4
16g.1208069A>CCA394171866CACNA1Hc.3211A>C (p.Ser1071Arg)
c.3172A>C (p.Ser1058Arg)
c.*2658A>C (n.*2658A>C)
c.2431A>C (p.Ser811Arg)
c.*1124A>C (n.*1124A>C)
c.2665A>C (p.Ser889Arg)
c.262A>C (p.Ser88Arg)
c.3230A>C (p.Gln1077Pro)
n.3313A>C
n.3309A>C
16g.1208069A>GCA394171868CACNA1Hc.3211A>G (p.Ser1071Gly)
c.3172A>G (p.Ser1058Gly)
c.*2658A>G (n.*2658A>G)
c.2431A>G (p.Ser811Gly)
c.*1124A>G (n.*1124A>G)
c.2665A>G (p.Ser889Gly)
c.262A>G (p.Ser88Gly)
c.3230A>G (p.Gln1077Arg)
n.3313A>G
n.3309A>G
16g.1208069A>TCA394171870CACNA1Hc.3211A>T (p.Ser1071Cys)
c.3172A>T (p.Ser1058Cys)
c.*2658A>T (n.*2658A>T)
c.2431A>T (p.Ser811Cys)
c.*1124A>T (n.*1124A>T)
c.2665A>T (p.Ser889Cys)
c.262A>T (p.Ser88Cys)
c.3230A>T (p.Gln1077Leu)
n.3313A>T
n.3309A>T
16g.1208070G>ACA394171873CACNA1Hc.3212G>A (p.Ser1071Asn)
c.3173G>A (p.Ser1058Asn)
c.*2659G>A (n.*2659G>A)
c.2432G>A (p.Ser811Asn)
c.*1125G>A (n.*1125G>A)
c.2666G>A (p.Ser889Asn)
c.263G>A (p.Ser88Asn)
c.3231G>A (p.Gln1077=)
n.3314G>A
n.3310G>A
16g.1208070G>CCA394171875CACNA1Hc.3212G>C (p.Ser1071Thr)
c.3173G>C (p.Ser1058Thr)
c.*2659G>C (n.*2659G>C)
c.2432G>C (p.Ser811Thr)
c.*1125G>C (n.*1125G>C)
c.2666G>C (p.Ser889Thr)
c.263G>C (p.Ser88Thr)
c.3231G>C (p.Gln1077His)
n.3314G>C
n.3310G>C
16g.1208070G>TCA394171878CACNA1Hc.3212G>T (p.Ser1071Ile)
c.3173G>T (p.Ser1058Ile)
c.*2659G>T (n.*2659G>T)
c.2432G>T (p.Ser811Ile)
c.*1125G>T (n.*1125G>T)
c.2666G>T (p.Ser889Ile)
c.263G>T (p.Ser88Ile)
c.3231G>T (p.Gln1077His)
n.3314G>T
n.3310G>T
16g.1208071C>ACA394171880CACNA1Hc.3213C>A (p.Ser1071Arg)
c.3174C>A (p.Ser1058Arg)
c.*2660C>A (n.*2660C>A)
c.2433C>A (p.Ser811Arg)
c.*1126C>A (n.*1126C>A)
c.2667C>A (p.Ser889Arg)
c.264C>A (p.Ser88Arg)
c.3232C>A (p.Pro1078Thr)
n.3315C>A
n.3311C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208071C=CA2201517618CACNA1Hc.3213C= (p.Ser1071=)
c.3174C= (p.Ser1058=)
c.*2660C= (n.*2660C=)
c.2433C= (p.Ser811=)
c.*1126C= (n.*1126C=)
c.2667C= (p.Ser889=)
c.264C= (p.Ser88=)
c.3232C= (p.Pro1078=)
n.3315C=
n.3311C=
16g.1208071C>GCA394171881CACNA1Hc.3213C>G (p.Ser1071Arg)
c.3174C>G (p.Ser1058Arg)
c.*2660C>G (n.*2660C>G)
c.2433C>G (p.Ser811Arg)
c.*1126C>G (n.*1126C>G)
c.2667C>G (p.Ser889Arg)
c.264C>G (p.Ser88Arg)
c.3232C>G (p.Pro1078Ala)
n.3315C>G
n.3311C>G
16g.1208071C>TCA492891999CACNA1Hc.3213C>T (p.Ser1071=)
c.3174C>T (p.Ser1058=)
c.*2660C>T (n.*2660C>T)
c.2433C>T (p.Ser811=)
c.*1126C>T (n.*1126C>T)
c.2667C>T (p.Ser889=)
c.264C>T (p.Ser88=)
c.3232C>T (p.Pro1078Ser)
n.3315C>T
n.3311C>T
 dbSNP gnomAD v2 gnomAD v4
16g.1208072C>ACA394171884CACNA1Hc.3214C>A (p.Leu1072Met)
c.3175C>A (p.Leu1059Met)
c.*2661C>A (n.*2661C>A)
c.2434C>A (p.Leu812Met)
c.*1127C>A (n.*1127C>A)
c.2668C>A (p.Leu890Met)
c.265C>A (p.Leu89Met)
c.3233C>A (p.Pro1078His)
n.3316C>A
n.3312C>A
16g.1208072C=CA2201517619CACNA1Hc.3214C= (p.Leu1072=)
c.3175C= (p.Leu1059=)
c.*2661C= (n.*2661C=)
c.2434C= (p.Leu812=)
c.*1127C= (n.*1127C=)
c.2668C= (p.Leu890=)
c.265C= (p.Leu89=)
c.3233C= (p.Pro1078=)
n.3316C=
n.3312C=
16g.1208072C>GCA394171885CACNA1Hc.3214C>G (p.Leu1072Val)
c.3175C>G (p.Leu1059Val)
c.*2661C>G (n.*2661C>G)
c.2434C>G (p.Leu812Val)
c.*1127C>G (n.*1127C>G)
c.2668C>G (p.Leu890Val)
c.265C>G (p.Leu89Val)
c.3233C>G (p.Pro1078Arg)
n.3316C>G
n.3312C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208072C>TCA492892002CACNA1Hc.3214C>T (p.Leu1072=)
c.3175C>T (p.Leu1059=)
c.*2661C>T (n.*2661C>T)
c.2434C>T (p.Leu812=)
c.*1127C>T (n.*1127C>T)
c.2668C>T (p.Leu890=)
c.265C>T (p.Leu89=)
c.3233C>T (p.Pro1078Leu)
n.3316C>T
n.3312C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208073T>ACA394171887CACNA1Hc.3215T>A (p.Leu1072Gln)
c.3176T>A (p.Leu1059Gln)
c.*2662T>A (n.*2662T>A)
c.2435T>A (p.Leu812Gln)
c.*1128T>A (n.*1128T>A)
c.2669T>A (p.Leu890Gln)
c.266T>A (p.Leu89Gln)
c.3234T>A (p.Pro1078=)
n.3317T>A
n.3313T>A
16g.1208073T>CCA7800686CACNA1Hc.3215T>C (p.Leu1072Pro)
c.3176T>C (p.Leu1059Pro)
c.*2662T>C (n.*2662T>C)
c.2435T>C (p.Leu812Pro)
c.*1128T>C (n.*1128T>C)
c.2669T>C (p.Leu890Pro)
c.266T>C (p.Leu89Pro)
c.3234T>C (p.Pro1078=)
n.3317T>C
n.3313T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208073T>GCA394171891CACNA1Hc.3215T>G (p.Leu1072Arg)
c.3176T>G (p.Leu1059Arg)
c.*2662T>G (n.*2662T>G)
c.2435T>G (p.Leu812Arg)
c.*1128T>G (n.*1128T>G)
c.2669T>G (p.Leu890Arg)
c.266T>G (p.Leu89Arg)
c.3234T>G (p.Pro1078=)
n.3317T>G
n.3313T>G
16g.1208073T=CA2201517620CACNA1Hc.3215T= (p.Leu1072=)
c.3176T= (p.Leu1059=)
c.*2662T= (n.*2662T=)
c.2435T= (p.Leu812=)
c.*1128T= (n.*1128T=)
c.2669T= (p.Leu890=)
c.266T= (p.Leu89=)
c.3234T= (p.Pro1078=)
n.3317T=
n.3313T=
16g.1208074G>ACA492892011CACNA1Hc.3216G>A (p.Leu1072=)
c.3177G>A (p.Leu1059=)
c.*2663G>A (n.*2663G>A)
c.2436G>A (p.Leu812=)
c.*1129G>A (n.*1129G>A)
c.2670G>A (p.Leu890=)
c.267G>A (p.Leu89=)
c.3235G>A (p.Val1079Ile)
n.3318G>A
n.3314G>A
 gnomAD v4
16g.1208074G>CCA492892013CACNA1Hc.3216G>C (p.Leu1072=)
c.3177G>C (p.Leu1059=)
c.*2663G>C (n.*2663G>C)
c.2436G>C (p.Leu812=)
c.*1129G>C (n.*1129G>C)
c.2670G>C (p.Leu890=)
c.267G>C (p.Leu89=)
c.3235G>C (p.Val1079Leu)
n.3318G>C
n.3314G>C
16g.1208074G>TCA492892014CACNA1Hc.3216G>T (p.Leu1072=)
c.3177G>T (p.Leu1059=)
c.*2663G>T (n.*2663G>T)
c.2436G>T (p.Leu812=)
c.*1129G>T (n.*1129G>T)
c.2670G>T (p.Leu890=)
c.267G>T (p.Leu89=)
c.3235G>T (p.Val1079Phe)
n.3318G>T
n.3314G>T
16g.1208075T>ACA394171894CACNA1Hc.3217T>A (p.Ser1073Thr)
c.3178T>A (p.Ser1060Thr)
c.*2664T>A (n.*2664T>A)
c.2437T>A (p.Ser813Thr)
c.*1130T>A (n.*1130T>A)
c.2671T>A (p.Ser891Thr)
c.268T>A (p.Ser90Thr)
c.3236T>A (p.Val1079Asp)
n.3319T>A
n.3315T>A
 gnomAD v4
16g.1208075T>CCA394171895CACNA1Hc.3217T>C (p.Ser1073Pro)
c.3178T>C (p.Ser1060Pro)
c.*2664T>C (n.*2664T>C)
c.2437T>C (p.Ser813Pro)
c.*1130T>C (n.*1130T>C)
c.2671T>C (p.Ser891Pro)
c.268T>C (p.Ser90Pro)
c.3236T>C (p.Val1079Ala)
n.3319T>C
n.3315T>C
16g.1208075T>GCA394171897CACNA1Hc.3217T>G (p.Ser1073Ala)
c.3178T>G (p.Ser1060Ala)
c.*2664T>G (n.*2664T>G)
c.2437T>G (p.Ser813Ala)
c.*1130T>G (n.*1130T>G)
c.2671T>G (p.Ser891Ala)
c.268T>G (p.Ser90Ala)
c.3236T>G (p.Val1079Gly)
n.3319T>G
n.3315T>G
16g.1208076C>ACA394171900CACNA1Hc.3218C>A (p.Ser1073Tyr)
c.3179C>A (p.Ser1060Tyr)
c.*2665C>A (n.*2665C>A)
c.2438C>A (p.Ser813Tyr)
c.*1131C>A (n.*1131C>A)
c.2672C>A (p.Ser891Tyr)
c.269C>A (p.Ser90Tyr)
c.3237C>A (p.Val1079=)
n.3320C>A
n.3316C>A
 gnomAD v4
16g.1208076C=CA2201517621CACNA1Hc.3218C= (p.Ser1073=)
c.3179C= (p.Ser1060=)
c.*2665C= (n.*2665C=)
c.2438C= (p.Ser813=)
c.*1131C= (n.*1131C=)
c.2672C= (p.Ser891=)
c.269C= (p.Ser90=)
c.3237C= (p.Val1079=)
n.3320C=
n.3316C=
16g.1208076C>GCA7800687CACNA1Hc.3218C>G (p.Ser1073Cys)
c.3179C>G (p.Ser1060Cys)
c.*2665C>G (n.*2665C>G)
c.2438C>G (p.Ser813Cys)
c.*1131C>G (n.*1131C>G)
c.2672C>G (p.Ser891Cys)
c.269C>G (p.Ser90Cys)
c.3237C>G (p.Val1079=)
n.3320C>G
n.3316C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208076C>TCA7800688CACNA1Hc.3218C>T (p.Ser1073Phe)
c.3179C>T (p.Ser1060Phe)
c.*2665C>T (n.*2665C>T)
c.2438C>T (p.Ser813Phe)
c.*1131C>T (n.*1131C>T)
c.2672C>T (p.Ser891Phe)
c.269C>T (p.Ser90Phe)
c.3237C>T (p.Val1079=)
n.3320C>T
n.3316C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208077C>ACA492892026CACNA1Hc.3219C>A (p.Ser1073=)
c.3180C>A (p.Ser1060=)
c.*2666C>A (n.*2666C>A)
c.2439C>A (p.Ser813=)
c.*1132C>A (n.*1132C>A)
c.2673C>A (p.Ser891=)
c.270C>A (p.Ser90=)
c.3238C>A (p.Pro1080Thr)
n.3321C>A
n.3317C>A
16g.1208077C=CA2201517622CACNA1Hc.3219C= (p.Ser1073=)
c.3180C= (p.Ser1060=)
c.*2666C= (n.*2666C=)
c.2439C= (p.Ser813=)
c.*1132C= (n.*1132C=)
c.2673C= (p.Ser891=)
c.270C= (p.Ser90=)
c.3238C= (p.Pro1080=)
n.3321C=
n.3317C=
16g.1208077C>GCA492892025CACNA1Hc.3219C>G (p.Ser1073=)
c.3180C>G (p.Ser1060=)
c.*2666C>G (n.*2666C>G)
c.2439C>G (p.Ser813=)
c.*1132C>G (n.*1132C>G)
c.2673C>G (p.Ser891=)
c.270C>G (p.Ser90=)
c.3238C>G (p.Pro1080Ala)
n.3321C>G
n.3317C>G
 gnomAD v4
16g.1208077C>TCA492892023CACNA1Hc.3219C>T (p.Ser1073=)
c.3180C>T (p.Ser1060=)
c.*2666C>T (n.*2666C>T)
c.2439C>T (p.Ser813=)
c.*1132C>T (n.*1132C>T)
c.2673C>T (p.Ser891=)
c.270C>T (p.Ser90=)
c.3238C>T (p.Pro1080Ser)
n.3321C>T
n.3317C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208078C>ACA394171905CACNA1Hc.3220C>A (p.Pro1074Thr)
c.3181C>A (p.Pro1061Thr)
c.*2667C>A (n.*2667C>A)
c.2440C>A (p.Pro814Thr)
c.*1133C>A (n.*1133C>A)
c.2674C>A (p.Pro892Thr)
c.271C>A (p.Pro91Thr)
c.3239C>A (p.Pro1080His)
n.3322C>A
n.3318C>A
 gnomAD v4
16g.1208078C>GCA394171907CACNA1Hc.3220C>G (p.Pro1074Ala)
c.3181C>G (p.Pro1061Ala)
c.*2667C>G (n.*2667C>G)
c.2440C>G (p.Pro814Ala)
c.*1133C>G (n.*1133C>G)
c.2674C>G (p.Pro892Ala)
c.271C>G (p.Pro91Ala)
c.3239C>G (p.Pro1080Arg)
n.3322C>G
n.3318C>G
16g.1208078C>TCA394171909CACNA1Hc.3220C>T (p.Pro1074Ser)
c.3181C>T (p.Pro1061Ser)
c.*2667C>T (n.*2667C>T)
c.2440C>T (p.Pro814Ser)
c.*1133C>T (n.*1133C>T)
c.2674C>T (p.Pro892Ser)
c.271C>T (p.Pro91Ser)
c.3239C>T (p.Pro1080Leu)
n.3322C>T
n.3318C>T
 ClinVar gnomAD v4
16g.1208079C>ACA394171912CACNA1Hc.3221C>A (p.Pro1074His)
c.3182C>A (p.Pro1061His)
c.*2668C>A (n.*2668C>A)
c.2441C>A (p.Pro814His)
c.*1134C>A (n.*1134C>A)
c.2675C>A (p.Pro892His)
c.272C>A (p.Pro91His)
c.3240C>A (p.Pro1080=)
n.3323C>A
n.3319C>A
16g.1208079C=CA2201517623CACNA1Hc.3221C= (p.Pro1074=)
c.3182C= (p.Pro1061=)
c.*2668C= (n.*2668C=)
c.2441C= (p.Pro814=)
c.*1134C= (n.*1134C=)
c.2675C= (p.Pro892=)
c.272C= (p.Pro91=)
c.3240C= (p.Pro1080=)
n.3323C=
n.3319C=
16g.1208079C>GCA394171913CACNA1Hc.3221C>G (p.Pro1074Arg)
c.3182C>G (p.Pro1061Arg)
c.*2668C>G (n.*2668C>G)
c.2441C>G (p.Pro814Arg)
c.*1134C>G (n.*1134C>G)
c.2675C>G (p.Pro892Arg)
c.272C>G (p.Pro91Arg)
c.3240C>G (p.Pro1080=)
n.3323C>G
n.3319C>G
16g.1208079C>TCA394171914CACNA1Hc.3221C>T (p.Pro1074Leu)
c.3182C>T (p.Pro1061Leu)
c.*2668C>T (n.*2668C>T)
c.2441C>T (p.Pro814Leu)
c.*1134C>T (n.*1134C>T)
c.2675C>T (p.Pro892Leu)
c.272C>T (p.Pro91Leu)
c.3240C>T (p.Pro1080=)
n.3323C>T
n.3319C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208080T>ACA492892034CACNA1Hc.3222T>A (p.Pro1074=)
c.3183T>A (p.Pro1061=)
c.*2669T>A (n.*2669T>A)
c.2442T>A (p.Pro814=)
c.*1135T>A (n.*1135T>A)
c.2676T>A (p.Pro892=)
c.273T>A (p.Pro91=)
c.3241T>A (p.Ser1081Thr)
n.3324T>A
n.3320T>A
16g.1208080T>CCA492892036CACNA1Hc.3222T>C (p.Pro1074=)
c.3183T>C (p.Pro1061=)
c.*2669T>C (n.*2669T>C)
c.2442T>C (p.Pro814=)
c.*1135T>C (n.*1135T>C)
c.2676T>C (p.Pro892=)
c.273T>C (p.Pro91=)
c.3241T>C (p.Ser1081Pro)
n.3324T>C
n.3320T>C
16g.1208080T>GCA492892038CACNA1Hc.3222T>G (p.Pro1074=)
c.3183T>G (p.Pro1061=)
c.*2669T>G (n.*2669T>G)
c.2442T>G (p.Pro814=)
c.*1135T>G (n.*1135T>G)
c.2676T>G (p.Pro892=)
c.273T>G (p.Pro91=)
c.3241T>G (p.Ser1081Ala)
n.3324T>G
n.3320T>G
16g.1208081C>ACA394171916CACNA1Hc.3223C>A (p.Pro1075Thr)
c.3184C>A (p.Pro1062Thr)
c.*2670C>A (n.*2670C>A)
c.2443C>A (p.Pro815Thr)
c.*1136C>A (n.*1136C>A)
c.2677C>A (p.Pro893Thr)
c.274C>A (p.Pro92Thr)
c.3242C>A (p.Ser1081Tyr)
n.3325C>A
n.3321C>A
 gnomAD v4
16g.1208081C>GCA394171917CACNA1Hc.3223C>G (p.Pro1075Ala)
c.3184C>G (p.Pro1062Ala)
c.*2670C>G (n.*2670C>G)
c.2443C>G (p.Pro815Ala)
c.*1136C>G (n.*1136C>G)
c.2677C>G (p.Pro893Ala)
c.274C>G (p.Pro92Ala)
c.3242C>G (p.Ser1081Cys)
n.3325C>G
n.3321C>G
16g.1208081C>TCA394171918CACNA1Hc.3223C>T (p.Pro1075Ser)
c.3184C>T (p.Pro1062Ser)
c.*2670C>T (n.*2670C>T)
c.2443C>T (p.Pro815Ser)
c.*1136C>T (n.*1136C>T)
c.2677C>T (p.Pro893Ser)
c.274C>T (p.Pro92Ser)
c.3242C>T (p.Ser1081Phe)
n.3325C>T
n.3321C>T
 gnomAD v4
16g.1208082C>ACA394171921CACNA1Hc.3224C>A (p.Pro1075His)
c.3185C>A (p.Pro1062His)
c.*2671C>A (n.*2671C>A)
c.2444C>A (p.Pro815His)
c.*1137C>A (n.*1137C>A)
c.2678C>A (p.Pro893His)
c.275C>A (p.Pro92His)
c.3243C>A (p.Ser1081=)
n.3326C>A
n.3322C>A
 gnomAD v4
16g.1208082C=CA2201517624CACNA1Hc.3224C= (p.Pro1075=)
c.3185C= (p.Pro1062=)
c.*2671C= (n.*2671C=)
c.2444C= (p.Pro815=)
c.*1137C= (n.*1137C=)
c.2678C= (p.Pro893=)
c.275C= (p.Pro92=)
c.3243C= (p.Ser1081=)
n.3326C=
n.3322C=
16g.1208082C>GCA394171924CACNA1Hc.3224C>G (p.Pro1075Arg)
c.3185C>G (p.Pro1062Arg)
c.*2671C>G (n.*2671C>G)
c.2444C>G (p.Pro815Arg)
c.*1137C>G (n.*1137C>G)
c.2678C>G (p.Pro893Arg)
c.275C>G (p.Pro92Arg)
c.3243C>G (p.Ser1081=)
n.3326C>G
n.3322C>G
16g.1208082C>TCA7800689CACNA1Hc.3224C>T (p.Pro1075Leu)
c.3185C>T (p.Pro1062Leu)
c.*2671C>T (n.*2671C>T)
c.2444C>T (p.Pro815Leu)
c.*1137C>T (n.*1137C>T)
c.2678C>T (p.Pro893Leu)
c.275C>T (p.Pro92Leu)
c.3243C>T (p.Ser1081=)
n.3326C>T
n.3322C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208083C>ACA492892044CACNA1Hc.3225C>A (p.Pro1075=)
c.3186C>A (p.Pro1062=)
c.*2672C>A (n.*2672C>A)
c.2445C>A (p.Pro815=)
c.*1138C>A (n.*1138C>A)
c.2679C>A (p.Pro893=)
c.276C>A (p.Pro92=)
c.3244C>A (p.Pro1082Thr)
n.3327C>A
n.3323C>A
 gnomAD v4
16g.1208083C=CA2201517625CACNA1Hc.3225C= (p.Pro1075=)
c.3186C= (p.Pro1062=)
c.*2672C= (n.*2672C=)
c.2445C= (p.Pro815=)
c.*1138C= (n.*1138C=)
c.2679C= (p.Pro893=)
c.276C= (p.Pro92=)
c.3244C= (p.Pro1082=)
n.3327C=
n.3323C=
16g.1208083C>GCA492892045CACNA1Hc.3225C>G (p.Pro1075=)
c.3186C>G (p.Pro1062=)
c.*2672C>G (n.*2672C>G)
c.2445C>G (p.Pro815=)
c.*1138C>G (n.*1138C>G)
c.2679C>G (p.Pro893=)
c.276C>G (p.Pro92=)
c.3244C>G (p.Pro1082Ala)
n.3327C>G
n.3323C>G
16g.1208083C>TCA276661770CACNA1Hc.3225C>T (p.Pro1075=)
c.3186C>T (p.Pro1062=)
c.*2672C>T (n.*2672C>T)
c.2445C>T (p.Pro815=)
c.*1138C>T (n.*1138C>T)
c.2679C>T (p.Pro893=)
c.276C>T (p.Pro92=)
c.3244C>T (p.Pro1082Ser)
n.3327C>T
n.3323C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
16g.1208084C>ACA394171927CACNA1Hc.3226C>A (p.Leu1076Ile)
c.3187C>A (p.Leu1063Ile)
c.*2673C>A (n.*2673C>A)
c.2446C>A (p.Leu816Ile)
c.*1139C>A (n.*1139C>A)
c.2680C>A (p.Leu894Ile)
c.277C>A (p.Leu93Ile)
c.3245C>A (p.Pro1082His)
n.3328C>A
n.3324C>A
 gnomAD v4
16g.1208084C=CA2201517626CACNA1Hc.3226C= (p.Leu1076=)
c.3187C= (p.Leu1063=)
c.*2673C= (n.*2673C=)
c.2446C= (p.Leu816=)
c.*1139C= (n.*1139C=)
c.2680C= (p.Leu894=)
c.277C= (p.Leu93=)
c.3245C= (p.Pro1082=)
n.3328C=
n.3324C=
16g.1208084C>GCA394171932CACNA1Hc.3226C>G (p.Leu1076Val)
c.3187C>G (p.Leu1063Val)
c.*2673C>G (n.*2673C>G)
c.2446C>G (p.Leu816Val)
c.*1139C>G (n.*1139C>G)
c.2680C>G (p.Leu894Val)
c.277C>G (p.Leu93Val)
c.3245C>G (p.Pro1082Arg)
n.3328C>G
n.3324C>G
 gnomAD v4
16g.1208084C>TCA394171930CACNA1Hc.3226C>T (p.Leu1076Phe)
c.3187C>T (p.Leu1063Phe)
c.*2673C>T (n.*2673C>T)
c.2446C>T (p.Leu816Phe)
c.*1139C>T (n.*1139C>T)
c.2680C>T (p.Leu894Phe)
c.277C>T (p.Leu93Phe)
c.3245C>T (p.Pro1082Leu)
n.3328C>T
n.3324C>T
 dbSNP gnomAD v2 gnomAD v4
16g.1208085T>ACA394171933CACNA1Hc.3227T>A (p.Leu1076His)
c.3188T>A (p.Leu1063His)
c.*2674T>A (n.*2674T>A)
c.2447T>A (p.Leu816His)
c.*1140T>A (n.*1140T>A)
c.2681T>A (p.Leu894His)
c.278T>A (p.Leu93His)
c.3246T>A (p.Pro1082=)
n.3329T>A
n.3325T>A
 gnomAD v4
16g.1208085T>CCA394171935CACNA1Hc.3227T>C (p.Leu1076Pro)
c.3188T>C (p.Leu1063Pro)
c.*2674T>C (n.*2674T>C)
c.2447T>C (p.Leu816Pro)
c.*1140T>C (n.*1140T>C)
c.2681T>C (p.Leu894Pro)
c.278T>C (p.Leu93Pro)
c.3246T>C (p.Pro1082=)
n.3329T>C
n.3325T>C
 gnomAD v4
16g.1208085T>GCA394171937CACNA1Hc.3227T>G (p.Leu1076Arg)
c.3188T>G (p.Leu1063Arg)
c.*2674T>G (n.*2674T>G)
c.2447T>G (p.Leu816Arg)
c.*1140T>G (n.*1140T>G)
c.2681T>G (p.Leu894Arg)
c.278T>G (p.Leu93Arg)
c.3246T>G (p.Pro1082=)
n.3329T>G
n.3325T>G
16g.1208089_1208091delCA2630927076CACNA1Hc.3231_3233del (p.Ile1077del)
c.3192_3194del (p.Ile1064del)
c.*2678_*2680del (n.*2678_*2680del)
c.2451_2453del (p.Ile817del)
c.*1144_*1146del (n.*1144_*1146del)
c.2685_2687del (p.Ile895del)
c.282_284del (p.Ile94del)
c.3250_3252del (p.His1084del)
n.3333_3335del
n.3329_3331del
 gnomAD v4
16g.1208086C>ACA492892053CACNA1Hc.3228C>A (p.Leu1076=)
c.3189C>A (p.Leu1063=)
c.*2675C>A (n.*2675C>A)
c.2448C>A (p.Leu816=)
c.*1141C>A (n.*1141C>A)
c.2682C>A (p.Leu894=)
c.279C>A (p.Leu93=)
c.3247C>A (p.His1083Asn)
n.3330C>A
n.3326C>A
 gnomAD v4
16g.1208086C=CA2201517627CACNA1Hc.3228C= (p.Leu1076=)
c.3189C= (p.Leu1063=)
c.*2675C= (n.*2675C=)
c.2448C= (p.Leu816=)
c.*1141C= (n.*1141C=)
c.2682C= (p.Leu894=)
c.279C= (p.Leu93=)
c.3247C= (p.His1083=)
n.3330C=
n.3326C=
16g.1208086C>GCA492892055CACNA1Hc.3228C>G (p.Leu1076=)
c.3189C>G (p.Leu1063=)
c.*2675C>G (n.*2675C>G)
c.2448C>G (p.Leu816=)
c.*1141C>G (n.*1141C>G)
c.2682C>G (p.Leu894=)
c.279C>G (p.Leu93=)
c.3247C>G (p.His1083Asp)
n.3330C>G
n.3326C>G
 COSMIC COSMIC COSMIC
16g.1208086C>TCA7800690CACNA1Hc.3228C>T (p.Leu1076=)
c.3189C>T (p.Leu1063=)
c.*2675C>T (n.*2675C>T)
c.2448C>T (p.Leu816=)
c.*1141C>T (n.*1141C>T)
c.2682C>T (p.Leu894=)
c.279C>T (p.Leu93=)
c.3247C>T (p.His1083Tyr)
n.3330C>T
n.3326C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208087A=CA2201517628CACNA1Hc.3229A= (p.Ile1077=)
c.3190A= (p.Ile1064=)
c.*2676A= (n.*2676A=)
c.2449A= (p.Ile817=)
c.*1142A= (n.*1142A=)
c.2683A= (p.Ile895=)
c.280A= (p.Ile94=)
c.3248A= (p.His1083=)
n.3331A=
n.3327A=
16g.1208087A>CCA394171942CACNA1Hc.3229A>C (p.Ile1077Leu)
c.3190A>C (p.Ile1064Leu)
c.*2676A>C (n.*2676A>C)
c.2449A>C (p.Ile817Leu)
c.*1142A>C (n.*1142A>C)
c.2683A>C (p.Ile895Leu)
c.280A>C (p.Ile94Leu)
c.3248A>C (p.His1083Pro)
n.3331A>C
n.3327A>C
16g.1208087A>GCA394171944CACNA1Hc.3229A>G (p.Ile1077Val)
c.3190A>G (p.Ile1064Val)
c.*2676A>G (n.*2676A>G)
c.2449A>G (p.Ile817Val)
c.*1142A>G (n.*1142A>G)
c.2683A>G (p.Ile895Val)
c.280A>G (p.Ile94Val)
c.3248A>G (p.His1083Arg)
n.3331A>G
n.3327A>G
 ClinVar dbSNP gnomAD v4
16g.1208087A>TCA394171946CACNA1Hc.3229A>T (p.Ile1077Phe)
c.3190A>T (p.Ile1064Phe)
c.*2676A>T (n.*2676A>T)
c.2449A>T (p.Ile817Phe)
c.*1142A>T (n.*1142A>T)
c.2683A>T (p.Ile895Phe)
c.280A>T (p.Ile94Phe)
c.3248A>T (p.His1083Leu)
n.3331A>T
n.3327A>T
16g.1208088T>ACA394171949CACNA1Hc.3230T>A (p.Ile1077Asn)
c.3191T>A (p.Ile1064Asn)
c.*2677T>A (n.*2677T>A)
c.2450T>A (p.Ile817Asn)
c.*1143T>A (n.*1143T>A)
c.2684T>A (p.Ile895Asn)
c.281T>A (p.Ile94Asn)
c.3249T>A (p.His1083Gln)
n.3332T>A
n.3328T>A
16g.1208088T>CCA394171957CACNA1Hc.3230T>C (p.Ile1077Thr)
c.3191T>C (p.Ile1064Thr)
c.*2677T>C (n.*2677T>C)
c.2450T>C (p.Ile817Thr)
c.*1143T>C (n.*1143T>C)
c.2684T>C (p.Ile895Thr)
c.281T>C (p.Ile94Thr)
c.3249T>C (p.His1083=)
n.3332T>C
n.3328T>C
16g.1208088T>GCA394171954CACNA1Hc.3230T>G (p.Ile1077Ser)
c.3191T>G (p.Ile1064Ser)
c.*2677T>G (n.*2677T>G)
c.2450T>G (p.Ile817Ser)
c.*1143T>G (n.*1143T>G)
c.2684T>G (p.Ile895Ser)
c.281T>G (p.Ile94Ser)
c.3249T>G (p.His1083Gln)
n.3332T>G
n.3328T>G
16g.1208089C>ACA492892062CACNA1Hc.3231C>A (p.Ile1077=)
c.3192C>A (p.Ile1064=)
c.*2678C>A (n.*2678C>A)
c.2451C>A (p.Ile817=)
c.*1144C>A (n.*1144C>A)
c.2685C>A (p.Ile895=)
c.282C>A (p.Ile94=)
c.3250C>A (p.His1084Asn)
n.3333C>A
n.3329C>A
 gnomAD v4
16g.1208089C=CA2201517630CACNA1Hc.3231C= (p.Ile1077=)
c.3192C= (p.Ile1064=)
c.*2678C= (n.*2678C=)
c.2451C= (p.Ile817=)
c.*1144C= (n.*1144C=)
c.2685C= (p.Ile895=)
c.282C= (p.Ile94=)
c.3250C= (p.His1084=)
n.3333C=
n.3329C=
16g.1208089C>GCA276661774CACNA1Hc.3231C>G (p.Ile1077Met)
c.3192C>G (p.Ile1064Met)
c.*2678C>G (n.*2678C>G)
c.2451C>G (p.Ile817Met)
c.*1144C>G (n.*1144C>G)
c.2685C>G (p.Ile895Met)
c.282C>G (p.Ile94Met)
c.3250C>G (p.His1084Asp)
n.3333C>G
n.3329C>G
 dbSNP gnomAD v2 gnomAD v4
16g.1208089C>TCA276661791CACNA1Hc.3231C>T (p.Ile1077=)
c.3192C>T (p.Ile1064=)
c.*2678C>T (n.*2678C>T)
c.2451C>T (p.Ile817=)
c.*1144C>T (n.*1144C>T)
c.2685C>T (p.Ile895=)
c.282C>T (p.Ile94=)
c.3250C>T (p.His1084Tyr)
n.3333C>T
n.3329C>T
 dbSNP gnomAD v4
16g.1208089_1208091delinsCATCA2201517629CACNA1Hc.3231_3233delinsCAT (p.Ile1077=)
c.3192_3194delinsCAT (p.Ile1064=)
c.*2678_*2680delinsCAT (n.*2678_*2680delinsCAT)
c.2451_2453delinsCAT (p.Ile817=)
c.*1144_*1146delinsCAT (n.*1144_*1146delinsCAT)
c.2685_2687delinsCAT (p.Ile895=)
c.282_284delinsCAT (p.Ile94=)
c.3250_3252delinsCAT (p.His1084=)
n.3333_3335delinsCAT
n.3329_3331delinsCAT
16g.1208090A=CA2201517631CACNA1Hc.3232A= (p.Met1078=)
c.3193A= (p.Met1065=)
c.*2679A= (n.*2679A=)
c.2452A= (p.Met818=)
c.*1145A= (n.*1145A=)
c.2686A= (p.Met896=)
c.283A= (p.Met95=)
c.3251A= (p.His1084=)
n.3334A=
n.3330A=
16g.1208090A>CCA394171963CACNA1Hc.3232A>C (p.Met1078Leu)
c.3193A>C (p.Met1065Leu)
c.*2679A>C (n.*2679A>C)
c.2452A>C (p.Met818Leu)
c.*1145A>C (n.*1145A>C)
c.2686A>C (p.Met896Leu)
c.283A>C (p.Met95Leu)
c.3251A>C (p.His1084Pro)
n.3334A>C
n.3330A>C
 ClinVar
16g.1208090A>GCA7800691CACNA1Hc.3232A>G (p.Met1078Val)
c.3193A>G (p.Met1065Val)
c.*2679A>G (n.*2679A>G)
c.2452A>G (p.Met818Val)
c.*1145A>G (n.*1145A>G)
c.2686A>G (p.Met896Val)
c.283A>G (p.Met95Val)
c.3251A>G (p.His1084Arg)
n.3334A>G
n.3330A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208090A>TCA394171966CACNA1Hc.3232A>T (p.Met1078Leu)
c.3193A>T (p.Met1065Leu)
c.*2679A>T (n.*2679A>T)
c.2452A>T (p.Met818Leu)
c.*1145A>T (n.*1145A>T)
c.2686A>T (p.Met896Leu)
c.283A>T (p.Met95Leu)
c.3251A>T (p.His1084Leu)
n.3334A>T
n.3330A>T
16g.1208090_1208091delCA620697720CACNA1Hc.3232_3233del (p.Met1078ValfsTer?)
c.3193_3194del (p.Met1065ValfsTer?)
c.*2679_*2680del (n.*2679_*2680del)
c.2452_2453del (p.Met818ValfsTer?)
c.*1145_*1146del (n.*1145_*1146del)
c.2686_2687del (p.Met896ValfsTer?)
c.283_284del (p.Met95ValfsTer?)
c.3251_3252del (p.His1084ArgfsTer?)
n.3334_3335del
n.3330_3331del
 dbSNP gnomAD v2 gnomAD v4
16g.1208091T>ACA394171968CACNA1Hc.3233T>A (p.Met1078Lys)
c.3194T>A (p.Met1065Lys)
c.*2680T>A (n.*2680T>A)
c.2453T>A (p.Met818Lys)
c.*1146T>A (n.*1146T>A)
c.2687T>A (p.Met896Lys)
c.284T>A (p.Met95Lys)
c.3252T>A (p.His1084Gln)
n.3335T>A
n.3331T>A
16g.1208091T>CCA276661801CACNA1Hc.3233T>C (p.Met1078Thr)
c.3194T>C (p.Met1065Thr)
c.*2680T>C (n.*2680T>C)
c.2453T>C (p.Met818Thr)
c.*1146T>C (n.*1146T>C)
c.2687T>C (p.Met896Thr)
c.284T>C (p.Met95Thr)
c.3252T>C (p.His1084=)
n.3335T>C
n.3331T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.1208091T>GCA394171970CACNA1Hc.3233T>G (p.Met1078Arg)
c.3194T>G (p.Met1065Arg)
c.*2680T>G (n.*2680T>G)
c.2453T>G (p.Met818Arg)
c.*1146T>G (n.*1146T>G)
c.2687T>G (p.Met896Arg)
c.284T>G (p.Met95Arg)
c.3252T>G (p.His1084Gln)
n.3335T>G
n.3331T>G
16g.1208091T=CA2201517632CACNA1Hc.3233T= (p.Met1078=)
c.3194T= (p.Met1065=)
c.*2680T= (n.*2680T=)
c.2453T= (p.Met818=)
c.*1146T= (n.*1146T=)
c.2687T= (p.Met896=)
c.284T= (p.Met95=)
c.3252T= (p.His1084=)
n.3335T=
n.3331T=
16g.1208092G>ACA7800692CACNA1Hc.3234G>A (p.Met1078Ile)
c.3195G>A (p.Met1065Ile)
c.*2681G>A (n.*2681G>A)
c.2454G>A (p.Met818Ile)
c.*1147G>A (n.*1147G>A)
c.2688G>A (p.Met896Ile)
c.285G>A (p.Met95Ile)
c.3253G>A (p.Val1085Met)
n.3336G>A
n.3332G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.1208092G>CCA394171975CACNA1Hc.3234G>C (p.Met1078Ile)
c.3195G>C (p.Met1065Ile)
c.*2681G>C (n.*2681G>C)
c.2454G>C (p.Met818Ile)
c.*1147G>C (n.*1147G>C)
c.2688G>C (p.Met896Ile)
c.285G>C (p.Met95Ile)
c.3253G>C (p.Val1085Leu)
n.3336G>C
n.3332G>C
16g.1208092G=CA2201517633CACNA1Hc.3234G= (p.Met1078=)
c.3195G= (p.Met1065=)
c.*2681G= (n.*2681G=)
c.2454G= (p.Met818=)
c.*1147G= (n.*1147G=)
c.2688G= (p.Met896=)
c.285G= (p.Met95=)
c.3253G= (p.Val1085=)
n.3336G=
n.3332G=
16g.1208092G>TCA394171978CACNA1Hc.3234G>T (p.Met1078Ile)
c.3195G>T (p.Met1065Ile)
c.*2681G>T (n.*2681G>T)
c.2454G>T (p.Met818Ile)
c.*1147G>T (n.*1147G>T)
c.2688G>T (p.Met896Ile)
c.285G>T (p.Met95Ile)
c.3253G>T (p.Val1085Leu)
n.3336G>T
n.3332G>T
 dbSNP gnomAD v4
16g.1208093T>ACA394171979CACNA1Hc.3235T>A (p.Cys1079Ser)
c.3196T>A (p.Cys1066Ser)
c.*2682T>A (n.*2682T>A)
c.2455T>A (p.Cys819Ser)
c.*1148T>A (n.*1148T>A)
c.2689T>A (p.Cys897Ser)
c.286T>A (p.Cys96Ser)
c.3254T>A (p.Val1085Glu)
n.3337T>A
n.3333T>A
16g.1208093T>CCA394171980CACNA1Hc.3235T>C (p.Cys1079Arg)
c.3196T>C (p.Cys1066Arg)
c.*2682T>C (n.*2682T>C)
c.2455T>C (p.Cys819Arg)
c.*1148T>C (n.*1148T>C)
c.2689T>C (p.Cys897Arg)
c.286T>C (p.Cys96Arg)
c.3254T>C (p.Val1085Ala)
n.3337T>C
n.3333T>C
 gnomAD v4
16g.1208093T>GCA394171982CACNA1Hc.3235T>G (p.Cys1079Gly)
c.3196T>G (p.Cys1066Gly)
c.*2682T>G (n.*2682T>G)
c.2455T>G (p.Cys819Gly)
c.*1148T>G (n.*1148T>G)
c.2689T>G (p.Cys897Gly)
c.286T>G (p.Cys96Gly)
c.3254T>G (p.Val1085Gly)
n.3337T>G
n.3333T>G
16g.1208094G>ACA394171983CACNA1Hc.3236G>A (p.Cys1079Tyr)
c.3197G>A (p.Cys1066Tyr)
c.*2683G>A (n.*2683G>A)
c.2456G>A (p.Cys819Tyr)
c.*1149G>A (n.*1149G>A)
c.2690G>A (p.Cys897Tyr)
c.287G>A (p.Cys96Tyr)
c.3255G>A (p.Val1085=)
n.3338G>A
n.3334G>A
 gnomAD v4
16g.1208094G>CCA394171985CACNA1Hc.3236G>C (p.Cys1079Ser)
c.3197G>C (p.Cys1066Ser)
c.*2683G>C (n.*2683G>C)
c.2456G>C (p.Cys819Ser)
c.*1149G>C (n.*1149G>C)
c.2690G>C (p.Cys897Ser)
c.287G>C (p.Cys96Ser)
c.3255G>C (p.Val1085=)
n.3338G>C
n.3334G>C
16g.1208094G>TCA394171986CACNA1Hc.3236G>T (p.Cys1079Phe)
c.3197G>T (p.Cys1066Phe)
c.*2683G>T (n.*2683G>T)
c.2456G>T (p.Cys819Phe)
c.*1149G>T (n.*1149G>T)
c.2690G>T (p.Cys897Phe)
c.287G>T (p.Cys96Phe)
c.3255G>T (p.Val1085=)
n.3338G>T
n.3334G>T
 gnomAD v4
16g.1208095C>ACA394171987CACNA1Hc.3237C>A (p.Cys1079Ter)
c.3198C>A (p.Cys1066Ter)
c.*2684C>A (n.*2684C>A)
c.2457C>A (p.Cys819Ter)
c.*1150C>A (n.*1150C>A)
c.2691C>A (p.Cys897Ter)
c.288C>A (p.Cys96Ter)
c.3256C>A (p.His1086Asn)
n.3339C>A
n.3335C>A
 dbSNP COSMIC COSMIC COSMIC
16g.1208095C=CA2201517634CACNA1Hc.3237C= (p.Cys1079=)
c.3198C= (p.Cys1066=)
c.*2684C= (n.*2684C=)
c.2457C= (p.Cys819=)
c.*1150C= (n.*1150C=)
c.2691C= (p.Cys897=)
c.288C= (p.Cys96=)
c.3256C= (p.His1086=)
n.3339C=
n.3335C=
16g.1208095C>GCA394171989CACNA1Hc.3237C>G (p.Cys1079Trp)
c.3198C>G (p.Cys1066Trp)
c.*2684C>G (n.*2684C>G)
c.2457C>G (p.Cys819Trp)
c.*1150C>G (n.*1150C>G)
c.2691C>G (p.Cys897Trp)
c.288C>G (p.Cys96Trp)
c.3256C>G (p.His1086Asp)
n.3339C>G
n.3335C>G
16g.1208095C>TCA492892078CACNA1Hc.3237C>T (p.Cys1079=)
c.3198C>T (p.Cys1066=)
c.*2684C>T (n.*2684C>T)
c.2457C>T (p.Cys819=)
c.*1150C>T (n.*1150C>T)
c.2691C>T (p.Cys897=)
c.288C>T (p.Cys96=)
c.3256C>T (p.His1086Tyr)
n.3339C>T
n.3335C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.1208096A=CA2201517635CACNA1Hc.3238A= (p.Thr1080=)
c.3199A= (p.Thr1067=)
c.*2685A= (n.*2685A=)
c.2458A= (p.Thr820=)
c.*1151A= (n.*1151A=)
c.2692A= (p.Thr898=)
c.289A= (p.Thr97=)
c.3257A= (p.His1086=)
n.3340A=
n.3336A=
16g.1208096A>CCA7800693CACNA1Hc.3238A>C (p.Thr1080Pro)
c.3199A>C (p.Thr1067Pro)
c.*2685A>C (n.*2685A>C)
c.2458A>C (p.Thr820Pro)
c.*1151A>C (n.*1151A>C)
c.2692A>C (p.Thr898Pro)
c.289A>C (p.Thr97Pro)
c.3257A>C (p.His1086Pro)
n.3340A>C
n.3336A>C
 ClinVar dbSNP ExAC gnomAD v4
16g.1208096A>GCA394171991CACNA1Hc.3238A>G (p.Thr1080Ala)
c.3199A>G (p.Thr1067Ala)
c.*2685A>G (n.*2685A>G)
c.2458A>G (p.Thr820Ala)
c.*1151A>G (n.*1151A>G)
c.2692A>G (p.Thr898Ala)
c.289A>G (p.Thr97Ala)
c.3257A>G (p.His1086Arg)
n.3340A>G
n.3336A>G
 dbSNP gnomAD v2 gnomAD v4
16g.1208096A>TCA394171993CACNA1Hc.3238A>T (p.Thr1080Ser)
c.3199A>T (p.Thr1067Ser)
c.*2685A>T (n.*2685A>T)
c.2458A>T (p.Thr820Ser)
c.*1151A>T (n.*1151A>T)
c.2692A>T (p.Thr898Ser)
c.289A>T (p.Thr97Ser)
c.3257A>T (p.His1086Leu)
n.3340A>T
n.3336A>T
16g.1208097C>ACA394171994CACNA1Hc.3239C>A (p.Thr1080Lys)
c.3200C>A (p.Thr1067Lys)
c.*2686C>A (n.*2686C>A)
c.2459C>A (p.Thr820Lys)
c.*1152C>A (n.*1152C>A)
c.2693C>A (p.Thr898Lys)
c.290C>A (p.Thr97Lys)
c.3258C>A (p.His1086Gln)
n.3341C>A
n.3337C>A
16g.1208097C=CA2201517636CACNA1Hc.3239C= (p.Thr1080=)
c.3200C= (p.Thr1067=)
c.*2686C= (n.*2686C=)
c.2459C= (p.Thr820=)
c.*1152C= (n.*1152C=)
c.2693C= (p.Thr898=)
c.290C= (p.Thr97=)
c.3258C= (p.His1086=)
n.3341C=
n.3337C=
16g.1208097C>GCA394171996CACNA1Hc.3239C>G (p.Thr1080Arg)
c.3200C>G (p.Thr1067Arg)
c.*2686C>G (n.*2686C>G)
c.2459C>G (p.Thr820Arg)
c.*1152C>G (n.*1152C>G)
c.2693C>G (p.Thr898Arg)
c.290C>G (p.Thr97Arg)
c.3258C>G (p.His1086Gln)
n.3341C>G
n.3337C>G
16g.1208097C>TCA394171997CACNA1Hc.3239C>T (p.Thr1080Ile)
c.3200C>T (p.Thr1067Ile)
c.*2686C>T (n.*2686C>T)
c.2459C>T (p.Thr820Ile)
c.*1152C>T (n.*1152C>T)
c.2693C>T (p.Thr898Ile)
c.290C>T (p.Thr97Ile)
c.3258C>T (p.His1086=)
n.3341C>T
n.3337C>T
 dbSNP gnomAD v2 gnomAD v4
16g.1208098A>CCA492892084CACNA1Hc.3240A>C (p.Thr1080=)
c.3201A>C (p.Thr1067=)
c.*2687A>C (n.*2687A>C)
c.2460A>C (p.Thr820=)
c.*1153A>C (n.*1153A>C)
c.2694A>C (p.Thr898=)
c.291A>C (p.Thr97=)
c.3259A>C (p.Ser1087Arg)
n.3342A>C
n.3338A>C
16g.1208098A>GCA492892086CACNA1Hc.3240A>G (p.Thr1080=)
c.3201A>G (p.Thr1067=)
c.*2687A>G (n.*2687A>G)
c.2460A>G (p.Thr820=)
c.*1153A>G (n.*1153A>G)
c.2694A>G (p.Thr898=)
c.291A>G (p.Thr97=)
c.3259A>G (p.Ser1087Gly)
n.3342A>G
n.3338A>G
16g.1208098A>TCA492892088CACNA1Hc.3240A>T (p.Thr1080=)
c.3201A>T (p.Thr1067=)
c.*2687A>T (n.*2687A>T)
c.2460A>T (p.Thr820=)
c.*1153A>T (n.*1153A>T)
c.2694A>T (p.Thr898=)
c.291A>T (p.Thr97=)
c.3259A>T (p.Ser1087Cys)
n.3342A>T
n.3338A>T
16g.1208099G>ACA394172000CACNA1Hc.3241G>A (p.Ala1081Thr)
c.3202G>A (p.Ala1068Thr)
c.*2688G>A (n.*2688G>A)
c.2461G>A (p.Ala821Thr)
c.*1154G>A (n.*1154G>A)
c.2695G>A (p.Ala899Thr)
c.292G>A (p.Ala98Thr)
c.3260G>A (p.Ser1087Asn)
n.3343G>A
n.3339G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.1208099G>CCA394172001CACNA1Hc.3241G>C (p.Ala1081Pro)
c.3202G>C (p.Ala1068Pro)
c.*2688G>C (n.*2688G>C)
c.2461G>C (p.Ala821Pro)
c.*1154G>C (n.*1154G>C)
c.2695G>C (p.Ala899Pro)
c.292G>C (p.Ala98Pro)
c.3260G>C (p.Ser1087Thr)
n.3343G>C
n.3339G>C
 dbSNP gnomAD v2 gnomAD v4
16g.1208099G=CA2201517637CACNA1Hc.3241G= (p.Ala1081=)
c.3202G= (p.Ala1068=)
c.*2688G= (n.*2688G=)
c.2461G= (p.Ala821=)
c.*1154G= (n.*1154G=)
c.2695G= (p.Ala899=)
c.292G= (p.Ala98=)
c.3260G= (p.Ser1087=)
n.3343G=
n.3339G=
16g.1208099G>TCA394172002CACNA1Hc.3241G>T (p.Ala1081Ser)
c.3202G>T (p.Ala1068Ser)
c.*2688G>T (n.*2688G>T)
c.2461G>T (p.Ala821Ser)
c.*1154G>T (n.*1154G>T)
c.2695G>T (p.Ala899Ser)
c.292G>T (p.Ala98Ser)
c.3260G>T (p.Ser1087Ile)
n.3343G>T
n.3339G>T
 gnomAD v4
16g.1208100C>ACA394172006CACNA1Hc.3242C>A (p.Ala1081Asp)
c.3203C>A (p.Ala1068Asp)
c.*2689C>A (n.*2689C>A)
c.2462C>A (p.Ala821Asp)
c.*1155C>A (n.*1155C>A)
c.2696C>A (p.Ala899Asp)
c.293C>A (p.Ala98Asp)
c.3261C>A (p.Ser1087Arg)
n.3344C>A
n.3340C>A
 dbSNP gnomAD v4
16g.1208100C=CA2201517638CACNA1Hc.3242C= (p.Ala1081=)
c.3203C= (p.Ala1068=)
c.*2689C= (n.*2689C=)
c.2462C= (p.Ala821=)
c.*1155C= (n.*1155C=)
c.2696C= (p.Ala899=)
c.293C= (p.Ala98=)
c.3261C= (p.Ser1087=)
n.3344C=
n.3340C=
16g.1208100C>GCA7800694CACNA1Hc.3242C>G (p.Ala1081Gly)
c.3203C>G (p.Ala1068Gly)
c.*2689C>G (n.*2689C>G)
c.2462C>G (p.Ala821Gly)
c.*1155C>G (n.*1155C>G)
c.2696C>G (p.Ala899Gly)
c.293C>G (p.Ala98Gly)
c.3261C>G (p.Ser1087Arg)
n.3344C>G
n.3340C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.1208100C>TCA394172004CACNA1Hc.3242C>T (p.Ala1081Val)
c.3203C>T (p.Ala1068Val)
c.*2689C>T (n.*2689C>T)
c.2462C>T (p.Ala821Val)
c.*1155C>T (n.*1155C>T)
c.2696C>T (p.Ala899Val)
c.293C>T (p.Ala98Val)
c.3261C>T (p.Ser1087=)
n.3344C>T
n.3340C>T
 dbSNP gnomAD v4
16g.1208101T>ACA492892095CACNA1Hc.3243T>A (p.Ala1081=)
c.3204T>A (p.Ala1068=)
c.*2690T>A (n.*2690T>A)
c.2463T>A (p.Ala821=)
c.*1156T>A (n.*1156T>A)
c.2697T>A (p.Ala899=)
c.294T>A (p.Ala98=)
c.3262T>A (p.Cys1088Ser)
n.3345T>A
n.3341T>A
16g.1208101T>CCA492892097CACNA1Hc.3243T>C (p.Ala1081=)
c.3204T>C (p.Ala1068=)
c.*2690T>C (n.*2690T>C)
c.2463T>C (p.Ala821=)
c.*1156T>C (n.*1156T>C)
c.2697T>C (p.Ala899=)
c.294T>C (p.Ala98=)
c.3262T>C (p.Cys1088Arg)
n.3345T>C
n.3341T>C
16g.1208101T>GCA492892098CACNA1Hc.3243T>G (p.Ala1081=)
c.3204T>G (p.Ala1068=)
c.*2690T>G (n.*2690T>G)
c.2463T>G (p.Ala821=)
c.*1156T>G (n.*1156T>G)
c.2697T>G (p.Ala899=)
c.294T>G (p.Ala98=)
c.3262T>G (p.Cys1088Gly)
n.3345T>G
n.3341T>G
16g.1208102G>ACA394172007CACNA1Hc.3244G>A (p.Ala1082Thr)
c.3205G>A (p.Ala1069Thr)
c.*2691G>A (n.*2691G>A)
c.2464G>A (p.Ala822Thr)
c.*1157G>A (n.*1157G>A)
c.2698G>A (p.Ala900Thr)
c.295G>A (p.Ala99Thr)
c.3263G>A (p.Cys1088Tyr)
n.3346G>A
n.3342G>A
 gnomAD v4
16g.1208102G>CCA394172008CACNA1Hc.3244G>C (p.Ala1082Pro)
c.3205G>C (p.Ala1069Pro)
c.*2691G>C (n.*2691G>C)
c.2464G>C (p.Ala822Pro)
c.*1157G>C (n.*1157G>C)
c.2698G>C (p.Ala900Pro)
c.295G>C (p.Ala99Pro)
c.3263G>C (p.Cys1088Ser)
n.3346G>C
n.3342G>C
16g.1208102G>TCA394172010CACNA1Hc.3244G>T (p.Ala1082Ser)
c.3205G>T (p.Ala1069Ser)
c.*2691G>T (n.*2691G>T)
c.2464G>T (p.Ala822Ser)
c.*1157G>T (n.*1157G>T)
c.2698G>T (p.Ala900Ser)
c.295G>T (p.Ala99Ser)
c.3263G>T (p.Cys1088Phe)
n.3346G>T
n.3342G>T
 COSMIC COSMIC COSMIC
16g.1208103C>ACA394172012CACNA1Hc.3245C>A (p.Ala1082Asp)
c.3206C>A (p.Ala1069Asp)
c.*2692C>A (n.*2692C>A)
c.2465C>A (p.Ala822Asp)
c.*1158C>A (n.*1158C>A)
c.2699C>A (p.Ala900Asp)
c.296C>A (p.Ala99Asp)
c.3264C>A (p.Cys1088Ter)
n.3347C>A
n.3343C>A
 gnomAD v4
16g.1208103C>GCA394172014CACNA1Hc.3245C>G (p.Ala1082Gly)
c.3206C>G (p.Ala1069Gly)
c.*2692C>G (n.*2692C>G)
c.2465C>G (p.Ala822Gly)
c.*1158C>G (n.*1158C>G)
c.2699C>G (p.Ala900Gly)
c.296C>G (p.Ala99Gly)
c.3264C>G (p.Cys1088Trp)
n.3347C>G
n.3343C>G
16g.1208103C>TCA394172015CACNA1Hc.3245C>T (p.Ala1082Val)
c.3206C>T (p.Ala1069Val)
c.*2692C>T (n.*2692C>T)
c.2465C>T (p.Ala822Val)
c.*1158C>T (n.*1158C>T)
c.2699C>T (p.Ala900Val)
c.296C>T (p.Ala99Val)
c.3264C>T (p.Cys1088=)
n.3347C>T
n.3343C>T
 gnomAD v4
16g.1208104C>ACA492892105CACNA1Hc.3246C>A (p.Ala1082=)
c.3207C>A (p.Ala1069=)
c.*2693C>A (n.*2693C>A)
c.2466C>A (p.Ala822=)
c.*1159C>A (n.*1159C>A)
c.2700C>A (p.Ala900=)
c.297C>A (p.Ala99=)
c.3265C>A (p.His1089Asn)
n.3348C>A
n.3344C>A
 gnomAD v4
16g.1208104C>GCA492892109CACNA1Hc.3246C>G (p.Ala1082=)
c.3207C>G (p.Ala1069=)
c.*2693C>G (n.*2693C>G)
c.2466C>G (p.Ala822=)
c.*1159C>G (n.*1159C>G)
c.2700C>G (p.Ala900=)
c.297C>G (p.Ala99=)
c.3265C>G (p.His1089Asp)
n.3348C>G
n.3344C>G
16g.1208104C>TCA492892107CACNA1Hc.3246C>T (p.Ala1082=)
c.3207C>T (p.Ala1069=)
c.*2693C>T (n.*2693C>T)
c.2466C>T (p.Ala822=)
c.*1159C>T (n.*1159C>T)
c.2700C>T (p.Ala900=)
c.297C>T (p.Ala99=)
c.3265C>T (p.His1089Tyr)
n.3348C>T
n.3344C>T
16g.1208105A>CCA394172017CACNA1Hc.3247A>C (p.Thr1083Pro)
c.3208A>C (p.Thr1070Pro)
c.*2694A>C (n.*2694A>C)
c.2467A>C (p.Thr823Pro)
c.*1160A>C (n.*1160A>C)
c.2701A>C (p.Thr901Pro)
c.298A>C (p.Thr100Pro)
c.3266A>C (p.His1089Pro)
n.3349A>C
n.3345A>C
16g.1208105A>GCA394172020CACNA1Hc.3247A>G (p.Thr1083Ala)
c.3208A>G (p.Thr1070Ala)
c.*2694A>G (n.*2694A>G)
c.2467A>G (p.Thr823Ala)
c.*1160A>G (n.*1160A>G)
c.2701A>G (p.Thr901Ala)
c.298A>G (p.Thr100Ala)
c.3266A>G (p.His1089Arg)
n.3349A>G
n.3345A>G
16g.1208105A>TCA394172019CACNA1Hc.3247A>T (p.Thr1083Ser)
c.3208A>T (p.Thr1070Ser)
c.*2694A>T (n.*2694A>T)
c.2467A>T (p.Thr823Ser)
c.*1160A>T (n.*1160A>T)
c.2701A>T (p.Thr901Ser)
c.298A>T (p.Thr100Ser)
c.3266A>T (p.His1089Leu)
n.3349A>T
n.3345A>T
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

Number of alleles fetched