Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49216381C>ACA412963847CACNA1Fc.3236+1G>T (n.3236+1G>T)
c.3074+1G>T (n.3074+1G>T)
c.3269+1G>T (n.3269+1G>T)
c.503+1G>T (n.503+1G>T)
 gnomAD v4
Xg.49216381C=CA2428539705CACNA1Fc.3236+1G= (n.3236+1G=)
c.3074+1G= (n.3074+1G=)
c.3269+1G= (n.3269+1G=)
c.503+1G= (n.503+1G=)
Xg.49216381C>GCA412963848CACNA1Fc.3236+1G>C (n.3236+1G>C)
c.3074+1G>C (n.3074+1G>C)
c.3269+1G>C (n.3269+1G>C)
c.503+1G>C (n.503+1G>C)
Xg.49216381C>TCA16621894CACNA1Fc.3236+1G>A (n.3236+1G>A)
c.3074+1G>A (n.3074+1G>A)
c.3269+1G>A (n.3269+1G>A)
c.503+1G>A (n.503+1G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.49216382G>ACA10410513CACNA1Fc.3236C>T (p.Ala1079Val)
c.3074C>T (p.Ala1025Val)
c.3269C>T (p.Ala1090Val)
c.503C>T (p.Ala168Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.49216382G>CCA412963849CACNA1Fc.3236C>G (p.Ala1079Gly)
c.3074C>G (p.Ala1025Gly)
c.3269C>G (p.Ala1090Gly)
c.503C>G (p.Ala168Gly)
Xg.49216382G=CA2428539706CACNA1Fc.3236C= (p.Ala1079=)
c.3074C= (p.Ala1025=)
c.3269C= (p.Ala1090=)
c.503C= (p.Ala168=)
Xg.49216382G>TCA412963850CACNA1Fc.3236C>A (p.Ala1079Glu)
c.3074C>A (p.Ala1025Glu)
c.3269C>A (p.Ala1090Glu)
c.503C>A (p.Ala168Glu)
Xg.49216383C>ACA412963851CACNA1Fc.3235G>T (p.Ala1079Ser)
c.3073G>T (p.Ala1025Ser)
c.3268G>T (p.Ala1090Ser)
c.502G>T (p.Ala168Ser)
Xg.49216383C>GCA412963852CACNA1Fc.3235G>C (p.Ala1079Pro)
c.3073G>C (p.Ala1025Pro)
c.3268G>C (p.Ala1090Pro)
c.502G>C (p.Ala168Pro)
Xg.49216383C>TCA412963853CACNA1Fc.3235G>A (p.Ala1079Thr)
c.3073G>A (p.Ala1025Thr)
c.3268G>A (p.Ala1090Thr)
c.502G>A (p.Ala168Thr)
 gnomAD v4
Xg.49216384A=CA2428539707CACNA1Fc.3234T= (p.Pro1078=)
c.3072T= (p.Pro1024=)
c.3267T= (p.Pro1089=)
c.501T= (p.Pro167=)
Xg.49216384A>CCA516377267CACNA1Fc.3234T>G (p.Pro1078=)
c.3072T>G (p.Pro1024=)
c.3267T>G (p.Pro1089=)
c.501T>G (p.Pro167=)
 dbSNP gnomAD v2 gnomAD v4
Xg.49216384A>GCA516377268CACNA1Fc.3234T>C (p.Pro1078=)
c.3072T>C (p.Pro1024=)
c.3267T>C (p.Pro1089=)
c.501T>C (p.Pro167=)
Xg.49216384A>TCA516377269CACNA1Fc.3234T>A (p.Pro1078=)
c.3072T>A (p.Pro1024=)
c.3267T>A (p.Pro1089=)
c.501T>A (p.Pro167=)
Xg.49216385G>ACA412963854CACNA1Fc.3233C>T (p.Pro1078Leu)
c.3071C>T (p.Pro1024Leu)
c.3266C>T (p.Pro1089Leu)
c.500C>T (p.Pro167Leu)
Xg.49216385G>CCA412963855CACNA1Fc.3233C>G (p.Pro1078Arg)
c.3071C>G (p.Pro1024Arg)
c.3266C>G (p.Pro1089Arg)
c.500C>G (p.Pro167Arg)
Xg.49216385G>TCA412963856CACNA1Fc.3233C>A (p.Pro1078His)
c.3071C>A (p.Pro1024His)
c.3266C>A (p.Pro1089His)
c.500C>A (p.Pro167His)
Xg.49216386G>ACA412963857CACNA1Fc.3232C>T (p.Pro1078Ser)
c.3070C>T (p.Pro1024Ser)
c.3265C>T (p.Pro1089Ser)
c.499C>T (p.Pro167Ser)
Xg.49216386G>CCA412963858CACNA1Fc.3232C>G (p.Pro1078Ala)
c.3070C>G (p.Pro1024Ala)
c.3265C>G (p.Pro1089Ala)
c.499C>G (p.Pro167Ala)
Xg.49216386G>TCA412963859CACNA1Fc.3232C>A (p.Pro1078Thr)
c.3070C>A (p.Pro1024Thr)
c.3265C>A (p.Pro1089Thr)
c.499C>A (p.Pro167Thr)
Xg.49216387C>ACA412963862CACNA1Fc.3231G>T (p.Trp1077Cys)
c.3069G>T (p.Trp1023Cys)
c.3264G>T (p.Trp1088Cys)
c.498G>T (p.Trp166Cys)
 COSMIC
Xg.49216387C>GCA412963860CACNA1Fc.3231G>C (p.Trp1077Cys)
c.3069G>C (p.Trp1023Cys)
c.3264G>C (p.Trp1088Cys)
c.498G>C (p.Trp166Cys)
Xg.49216387C>TCA412963861CACNA1Fc.3231G>A (p.Trp1077Ter)
c.3069G>A (p.Trp1023Ter)
c.3264G>A (p.Trp1088Ter)
c.498G>A (p.Trp166Ter)
 COSMIC
Xg.49216388C>ACA412963863CACNA1Fc.3230G>T (p.Trp1077Leu)
c.3068G>T (p.Trp1023Leu)
c.3263G>T (p.Trp1088Leu)
c.497G>T (p.Trp166Leu)
 gnomAD v4
Xg.49216388C>GCA412963864CACNA1Fc.3230G>C (p.Trp1077Ser)
c.3068G>C (p.Trp1023Ser)
c.3263G>C (p.Trp1088Ser)
c.497G>C (p.Trp166Ser)
Xg.49216388C>TCA412963865CACNA1Fc.3230G>A (p.Trp1077Ter)
c.3068G>A (p.Trp1023Ter)
c.3263G>A (p.Trp1088Ter)
c.497G>A (p.Trp166Ter)
Xg.49216389A>CCA412963866CACNA1Fc.3229T>G (p.Trp1077Gly)
c.3067T>G (p.Trp1023Gly)
c.3262T>G (p.Trp1088Gly)
c.496T>G (p.Trp166Gly)
Xg.49216389A>GCA412963867CACNA1Fc.3229T>C (p.Trp1077Arg)
c.3067T>C (p.Trp1023Arg)
c.3262T>C (p.Trp1088Arg)
c.496T>C (p.Trp166Arg)
Xg.49216389A>TCA412963868CACNA1Fc.3229T>A (p.Trp1077Arg)
c.3067T>A (p.Trp1023Arg)
c.3262T>A (p.Trp1088Arg)
c.496T>A (p.Trp166Arg)
Xg.49216390G>ACA516377270CACNA1Fc.3228C>T (p.Gly1076=)
c.3066C>T (p.Gly1022=)
c.3261C>T (p.Gly1087=)
c.495C>T (p.Gly165=)
 dbSNP gnomAD v2 gnomAD v4
Xg.49216390G>CCA516377271CACNA1Fc.3228C>G (p.Gly1076=)
c.3066C>G (p.Gly1022=)
c.3261C>G (p.Gly1087=)
c.495C>G (p.Gly165=)
Xg.49216390G=CA2428539708CACNA1Fc.3228C= (p.Gly1076=)
c.3066C= (p.Gly1022=)
c.3261C= (p.Gly1087=)
c.495C= (p.Gly165=)
Xg.49216390G>TCA516377272CACNA1Fc.3228C>A (p.Gly1076=)
c.3066C>A (p.Gly1022=)
c.3261C>A (p.Gly1087=)
c.495C>A (p.Gly165=)
Xg.49216391C>ACA412963869CACNA1Fc.3227G>T (p.Gly1076Val)
c.3065G>T (p.Gly1022Val)
c.3260G>T (p.Gly1087Val)
c.494G>T (p.Gly165Val)
 gnomAD v4
Xg.49216391C>GCA412963870CACNA1Fc.3227G>C (p.Gly1076Ala)
c.3065G>C (p.Gly1022Ala)
c.3260G>C (p.Gly1087Ala)
c.494G>C (p.Gly165Ala)
 gnomAD v4
Xg.49216391C>TCA412963871CACNA1Fc.3227G>A (p.Gly1076Asp)
c.3065G>A (p.Gly1022Asp)
c.3260G>A (p.Gly1087Asp)
c.494G>A (p.Gly165Asp)
Xg.49216392C>ACA412963872CACNA1Fc.3226G>T (p.Gly1076Cys)
c.3064G>T (p.Gly1022Cys)
c.3259G>T (p.Gly1087Cys)
c.493G>T (p.Gly165Cys)
Xg.49216392C>GCA412963873CACNA1Fc.3226G>C (p.Gly1076Arg)
c.3064G>C (p.Gly1022Arg)
c.3259G>C (p.Gly1087Arg)
c.493G>C (p.Gly165Arg)
Xg.49216392C>TCA412963874CACNA1Fc.3226G>A (p.Gly1076Ser)
c.3064G>A (p.Gly1022Ser)
c.3259G>A (p.Gly1087Ser)
c.493G>A (p.Gly165Ser)
Xg.49216393T>ACA412963876CACNA1Fc.3225A>T (p.Glu1075Asp)
c.3063A>T (p.Glu1021Asp)
c.3258A>T (p.Glu1086Asp)
c.492A>T (p.Glu164Asp)
Xg.49216393T>CCA516377273CACNA1Fc.3225A>G (p.Glu1075=)
c.3063A>G (p.Glu1021=)
c.3258A>G (p.Glu1086=)
c.492A>G (p.Glu164=)
Xg.49216393T>GCA412963875CACNA1Fc.3225A>C (p.Glu1075Asp)
c.3063A>C (p.Glu1021Asp)
c.3258A>C (p.Glu1086Asp)
c.492A>C (p.Glu164Asp)
 dbSNP
Xg.49216393T=CA2428539709CACNA1Fc.3225A= (p.Glu1075=)
c.3063A= (p.Glu1021=)
c.3258A= (p.Glu1086=)
c.492A= (p.Glu164=)
Xg.49216394delCA2573158897CACNA1Fc.3225del (p.Gly1076AlafsTer?)
c.3063del (p.Gly1022AlafsTer?)
c.3258del (p.Gly1087AlafsTer?)
c.492del (p.Gly165AlafsTer?)
 ClinVar dbSNP
Xg.49216394T>ACA412963877CACNA1Fc.3224A>T (p.Glu1075Val)
c.3062A>T (p.Glu1021Val)
c.3257A>T (p.Glu1086Val)
c.491A>T (p.Glu164Val)
Xg.49216394T>CCA412963878CACNA1Fc.3224A>G (p.Glu1075Gly)
c.3062A>G (p.Glu1021Gly)
c.3257A>G (p.Glu1086Gly)
c.491A>G (p.Glu164Gly)
Xg.49216394T>GCA412963879CACNA1Fc.3224A>C (p.Glu1075Ala)
c.3062A>C (p.Glu1021Ala)
c.3257A>C (p.Glu1086Ala)
c.491A>C (p.Glu164Ala)
Xg.49216395C>ACA412963880CACNA1Fc.3223G>T (p.Glu1075Ter)
c.3061G>T (p.Glu1021Ter)
c.3256G>T (p.Glu1086Ter)
c.490G>T (p.Glu164Ter)
Xg.49216395C>GCA412963881CACNA1Fc.3223G>C (p.Glu1075Gln)
c.3061G>C (p.Glu1021Gln)
c.3256G>C (p.Glu1086Gln)
c.490G>C (p.Glu164Gln)
Xg.49216395C>TCA412963882CACNA1Fc.3223G>A (p.Glu1075Lys)
c.3061G>A (p.Glu1021Lys)
c.3256G>A (p.Glu1086Lys)
c.490G>A (p.Glu164Lys)
 COSMIC
Xg.49216396A>CCA412963884CACNA1Fc.3222T>G (p.Phe1074Leu)
c.3060T>G (p.Phe1020Leu)
c.3255T>G (p.Phe1085Leu)
c.489T>G (p.Phe163Leu)
Xg.49216396A>GCA516377274CACNA1Fc.3222T>C (p.Phe1074=)
c.3060T>C (p.Phe1020=)
c.3255T>C (p.Phe1085=)
c.489T>C (p.Phe163=)
Xg.49216396A>TCA412963883CACNA1Fc.3222T>A (p.Phe1074Leu)
c.3060T>A (p.Phe1020Leu)
c.3255T>A (p.Phe1085Leu)
c.489T>A (p.Phe163Leu)
Xg.49216397A>CCA412963885CACNA1Fc.3221T>G (p.Phe1074Cys)
c.3059T>G (p.Phe1020Cys)
c.3254T>G (p.Phe1085Cys)
c.488T>G (p.Phe163Cys)
Xg.49216397A>GCA412963886CACNA1Fc.3221T>C (p.Phe1074Ser)
c.3059T>C (p.Phe1020Ser)
c.3254T>C (p.Phe1085Ser)
c.488T>C (p.Phe163Ser)
Xg.49216397A>TCA412963887CACNA1Fc.3221T>A (p.Phe1074Tyr)
c.3059T>A (p.Phe1020Tyr)
c.3254T>A (p.Phe1085Tyr)
c.488T>A (p.Phe163Tyr)
Xg.49216398A>CCA412963888CACNA1Fc.3220T>G (p.Phe1074Val)
c.3058T>G (p.Phe1020Val)
c.3253T>G (p.Phe1085Val)
c.487T>G (p.Phe163Val)
Xg.49216398A>GCA412963889CACNA1Fc.3220T>C (p.Phe1074Leu)
c.3058T>C (p.Phe1020Leu)
c.3253T>C (p.Phe1085Leu)
c.487T>C (p.Phe163Leu)
Xg.49216398A>TCA412963890CACNA1Fc.3220T>A (p.Phe1074Ile)
c.3058T>A (p.Phe1020Ile)
c.3253T>A (p.Phe1085Ile)
c.487T>A (p.Phe163Ile)
Xg.49216399G>ACA516377275CACNA1Fc.3219C>T (p.Thr1073=)
c.3057C>T (p.Thr1019=)
c.3252C>T (p.Thr1084=)
c.486C>T (p.Thr162=)
Xg.49216399G>CCA516377276CACNA1Fc.3219C>G (p.Thr1073=)
c.3057C>G (p.Thr1019=)
c.3252C>G (p.Thr1084=)
c.486C>G (p.Thr162=)
 gnomAD v4
Xg.49216399G>TCA516377277CACNA1Fc.3219C>A (p.Thr1073=)
c.3057C>A (p.Thr1019=)
c.3252C>A (p.Thr1084=)
c.486C>A (p.Thr162=)
Xg.49216400G>ACA412963893CACNA1Fc.3218C>T (p.Thr1073Ile)
c.3056C>T (p.Thr1019Ile)
c.3251C>T (p.Thr1084Ile)
c.485C>T (p.Thr162Ile)
Xg.49216400G>CCA412963891CACNA1Fc.3218C>G (p.Thr1073Ser)
c.3056C>G (p.Thr1019Ser)
c.3251C>G (p.Thr1084Ser)
c.485C>G (p.Thr162Ser)
Xg.49216400G>TCA412963892CACNA1Fc.3218C>A (p.Thr1073Asn)
c.3056C>A (p.Thr1019Asn)
c.3251C>A (p.Thr1084Asn)
c.485C>A (p.Thr162Asn)
 gnomAD v4
Xg.49216401T>ACA412963894CACNA1Fc.3217A>T (p.Thr1073Ser)
c.3055A>T (p.Thr1019Ser)
c.3250A>T (p.Thr1084Ser)
c.484A>T (p.Thr162Ser)
Xg.49216401T>CCA412963895CACNA1Fc.3217A>G (p.Thr1073Ala)
c.3055A>G (p.Thr1019Ala)
c.3250A>G (p.Thr1084Ala)
c.484A>G (p.Thr162Ala)
Xg.49216401T>GCA412963896CACNA1Fc.3217A>C (p.Thr1073Pro)
c.3055A>C (p.Thr1019Pro)
c.3250A>C (p.Thr1084Pro)
c.484A>C (p.Thr162Pro)
Xg.49216402G>ACA516377278CACNA1Fc.3216C>T (p.Ser1072=)
c.3054C>T (p.Ser1018=)
c.3249C>T (p.Ser1083=)
c.483C>T (p.Ser161=)
Xg.49216402G>CCA516377279CACNA1Fc.3216C>G (p.Ser1072=)
c.3054C>G (p.Ser1018=)
c.3249C>G (p.Ser1083=)
c.483C>G (p.Ser161=)
Xg.49216402G>TCA516377280CACNA1Fc.3216C>A (p.Ser1072=)
c.3054C>A (p.Ser1018=)
c.3249C>A (p.Ser1083=)
c.483C>A (p.Ser161=)
Xg.49216403delCA2579607587CACNA1Fc.3216del (p.Thr1073ProfsTer?)
c.3054del (p.Thr1019ProfsTer?)
c.3249del (p.Thr1084ProfsTer?)
c.483del (p.Thr162ProfsTer?)
Xg.49216403G>ACA412963897CACNA1Fc.3215C>T (p.Ser1072Phe)
c.3053C>T (p.Ser1018Phe)
c.3248C>T (p.Ser1083Phe)
c.482C>T (p.Ser161Phe)
 COSMIC
Xg.49216403G>CCA412963898CACNA1Fc.3215C>G (p.Ser1072Cys)
c.3053C>G (p.Ser1018Cys)
c.3248C>G (p.Ser1083Cys)
c.482C>G (p.Ser161Cys)
Xg.49216403G>TCA412963899CACNA1Fc.3215C>A (p.Ser1072Tyr)
c.3053C>A (p.Ser1018Tyr)
c.3248C>A (p.Ser1083Tyr)
c.482C>A (p.Ser161Tyr)
Xg.49216404A>CCA412963900CACNA1Fc.3214T>G (p.Ser1072Ala)
c.3052T>G (p.Ser1018Ala)
c.3247T>G (p.Ser1083Ala)
c.481T>G (p.Ser161Ala)
Xg.49216404A>GCA412963901CACNA1Fc.3214T>C (p.Ser1072Pro)
c.3052T>C (p.Ser1018Pro)
c.3247T>C (p.Ser1083Pro)
c.481T>C (p.Ser161Pro)
Xg.49216404A>TCA412963902CACNA1Fc.3214T>A (p.Ser1072Thr)
c.3052T>A (p.Ser1018Thr)
c.3247T>A (p.Ser1083Thr)
c.481T>A (p.Ser161Thr)
Xg.49216405G>ACA516377281CACNA1Fc.3213C>T (p.Val1071=)
c.3051C>T (p.Val1017=)
c.3246C>T (p.Val1082=)
c.480C>T (p.Val160=)
Xg.49216405G>CCA516377282CACNA1Fc.3213C>G (p.Val1071=)
c.3051C>G (p.Val1017=)
c.3246C>G (p.Val1082=)
c.480C>G (p.Val160=)
Xg.49216405G=CA2428539710CACNA1Fc.3213C= (p.Val1071=)
c.3051C= (p.Val1017=)
c.3246C= (p.Val1082=)
c.480C= (p.Val160=)
Xg.49216405G>TCA516377283CACNA1Fc.3213C>A (p.Val1071=)
c.3051C>A (p.Val1017=)
c.3246C>A (p.Val1082=)
c.480C>A (p.Val160=)
 dbSNP
Xg.49216406A>CCA412963903CACNA1Fc.3212T>G (p.Val1071Gly)
c.3050T>G (p.Val1017Gly)
c.3245T>G (p.Val1082Gly)
c.479T>G (p.Val160Gly)
Xg.49216406A>GCA412963904CACNA1Fc.3212T>C (p.Val1071Ala)
c.3050T>C (p.Val1017Ala)
c.3245T>C (p.Val1082Ala)
c.479T>C (p.Val160Ala)
Xg.49216406A>TCA412963905CACNA1Fc.3212T>A (p.Val1071Asp)
c.3050T>A (p.Val1017Asp)
c.3245T>A (p.Val1082Asp)
c.479T>A (p.Val160Asp)
Xg.49216407C>ACA412963906CACNA1Fc.3211G>T (p.Val1071Phe)
c.3049G>T (p.Val1017Phe)
c.3244G>T (p.Val1082Phe)
c.478G>T (p.Val160Phe)
 dbSNP
Xg.49216407C=CA2428539711CACNA1Fc.3211G= (p.Val1071=)
c.3049G= (p.Val1017=)
c.3244G= (p.Val1082=)
c.478G= (p.Val160=)
Xg.49216407C>GCA412963908CACNA1Fc.3211G>C (p.Val1071Leu)
c.3049G>C (p.Val1017Leu)
c.3244G>C (p.Val1082Leu)
c.478G>C (p.Val160Leu)
 gnomAD v4
Xg.49216407C>TCA412963907CACNA1Fc.3211G>A (p.Val1071Ile)
c.3049G>A (p.Val1017Ile)
c.3244G>A (p.Val1082Ile)
c.478G>A (p.Val160Ile)
Xg.49216408A>CCA516377284CACNA1Fc.3210T>G (p.Thr1070=)
c.3048T>G (p.Thr1016=)
c.3243T>G (p.Thr1081=)
c.477T>G (p.Thr159=)
 gnomAD v4
Xg.49216408A>GCA516377285CACNA1Fc.3210T>C (p.Thr1070=)
c.3048T>C (p.Thr1016=)
c.3243T>C (p.Thr1081=)
c.477T>C (p.Thr159=)
Xg.49216408A>TCA516377286CACNA1Fc.3210T>A (p.Thr1070=)
c.3048T>A (p.Thr1016=)
c.3243T>A (p.Thr1081=)
c.477T>A (p.Thr159=)
Xg.49216409G>ACA412963909CACNA1Fc.3209C>T (p.Thr1070Ile)
c.3047C>T (p.Thr1016Ile)
c.3242C>T (p.Thr1081Ile)
c.476C>T (p.Thr159Ile)
Xg.49216409G>CCA412963911CACNA1Fc.3209C>G (p.Thr1070Ser)
c.3047C>G (p.Thr1016Ser)
c.3242C>G (p.Thr1081Ser)
c.476C>G (p.Thr159Ser)
Xg.49216409G>TCA412963910CACNA1Fc.3209C>A (p.Thr1070Asn)
c.3047C>A (p.Thr1016Asn)
c.3242C>A (p.Thr1081Asn)
c.476C>A (p.Thr159Asn)
Xg.49216410T>ACA412963912CACNA1Fc.3208A>T (p.Thr1070Ser)
c.3046A>T (p.Thr1016Ser)
c.3241A>T (p.Thr1081Ser)
c.475A>T (p.Thr159Ser)
Xg.49216410T>CCA10410514CACNA1Fc.3208A>G (p.Thr1070Ala)
c.3046A>G (p.Thr1016Ala)
c.3241A>G (p.Thr1081Ala)
c.475A>G (p.Thr159Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216410T>GCA412963913CACNA1Fc.3208A>C (p.Thr1070Pro)
c.3046A>C (p.Thr1016Pro)
c.3241A>C (p.Thr1081Pro)
c.475A>C (p.Thr159Pro)
Xg.49216410T=CA2428539712CACNA1Fc.3208A= (p.Thr1070=)
c.3046A= (p.Thr1016=)
c.3241A= (p.Thr1081=)
c.475A= (p.Thr159=)
Xg.49216411G>ACA516377287CACNA1Fc.3207C>T (p.Phe1069=)
c.3045C>T (p.Phe1015=)
c.3240C>T (p.Phe1080=)
c.474C>T (p.Phe158=)
Xg.49216411G>CCA412963914CACNA1Fc.3207C>G (p.Phe1069Leu)
c.3045C>G (p.Phe1015Leu)
c.3240C>G (p.Phe1080Leu)
c.474C>G (p.Phe158Leu)
Xg.49216411G>TCA412963915CACNA1Fc.3207C>A (p.Phe1069Leu)
c.3045C>A (p.Phe1015Leu)
c.3240C>A (p.Phe1080Leu)
c.474C>A (p.Phe158Leu)
Xg.49216412A>CCA412963916CACNA1Fc.3206T>G (p.Phe1069Cys)
c.3044T>G (p.Phe1015Cys)
c.3239T>G (p.Phe1080Cys)
c.473T>G (p.Phe158Cys)
Xg.49216412A>GCA412963917CACNA1Fc.3206T>C (p.Phe1069Ser)
c.3044T>C (p.Phe1015Ser)
c.3239T>C (p.Phe1080Ser)
c.473T>C (p.Phe158Ser)
Xg.49216412A>TCA412963918CACNA1Fc.3206T>A (p.Phe1069Tyr)
c.3044T>A (p.Phe1015Tyr)
c.3239T>A (p.Phe1080Tyr)
c.473T>A (p.Phe158Tyr)
Xg.49216413A>CCA412963919CACNA1Fc.3205T>G (p.Phe1069Val)
c.3043T>G (p.Phe1015Val)
c.3238T>G (p.Phe1080Val)
c.472T>G (p.Phe158Val)
Xg.49216413A>GCA412963921CACNA1Fc.3205T>C (p.Phe1069Leu)
c.3043T>C (p.Phe1015Leu)
c.3238T>C (p.Phe1080Leu)
c.472T>C (p.Phe158Leu)
Xg.49216413A>TCA412963920CACNA1Fc.3205T>A (p.Phe1069Ile)
c.3043T>A (p.Phe1015Ile)
c.3238T>A (p.Phe1080Ile)
c.472T>A (p.Phe158Ile)
Xg.49216414C>ACA516377288CACNA1Fc.3204G>T (p.Leu1068=)
c.3042G>T (p.Leu1014=)
c.3237G>T (p.Leu1079=)
c.471G>T (p.Leu157=)
Xg.49216414C=CA2428539713CACNA1Fc.3204G= (p.Leu1068=)
c.3042G= (p.Leu1014=)
c.3237G= (p.Leu1079=)
c.471G= (p.Leu157=)
Xg.49216414C>GCA516377289CACNA1Fc.3204G>C (p.Leu1068=)
c.3042G>C (p.Leu1014=)
c.3237G>C (p.Leu1079=)
c.471G>C (p.Leu157=)
Xg.49216414C>TCA516377290CACNA1Fc.3204G>A (p.Leu1068=)
c.3042G>A (p.Leu1014=)
c.3237G>A (p.Leu1079=)
c.471G>A (p.Leu157=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216415A>CCA412963922CACNA1Fc.3203T>G (p.Leu1068Arg)
c.3041T>G (p.Leu1014Arg)
c.3236T>G (p.Leu1079Arg)
c.470T>G (p.Leu157Arg)
Xg.49216415A>GCA412963923CACNA1Fc.3203T>C (p.Leu1068Pro)
c.3041T>C (p.Leu1014Pro)
c.3236T>C (p.Leu1079Pro)
c.470T>C (p.Leu157Pro)
Xg.49216415A>TCA412963924CACNA1Fc.3203T>A (p.Leu1068Gln)
c.3041T>A (p.Leu1014Gln)
c.3236T>A (p.Leu1079Gln)
c.470T>A (p.Leu157Gln)
Xg.49216416G>ACA516377291CACNA1Fc.3202C>T (p.Leu1068=)
c.3040C>T (p.Leu1014=)
c.3235C>T (p.Leu1079=)
c.469C>T (p.Leu157=)
Xg.49216416G>CCA412963925CACNA1Fc.3202C>G (p.Leu1068Val)
c.3040C>G (p.Leu1014Val)
c.3235C>G (p.Leu1079Val)
c.469C>G (p.Leu157Val)
Xg.49216416G>TCA412963926CACNA1Fc.3202C>A (p.Leu1068Met)
c.3040C>A (p.Leu1014Met)
c.3235C>A (p.Leu1079Met)
c.469C>A (p.Leu157Met)
Xg.49216417G>ACA516377292CACNA1Fc.3201C>T (p.Ala1067=)
c.3039C>T (p.Ala1013=)
c.3234C>T (p.Ala1078=)
c.468C>T (p.Ala156=)
 dbSNP gnomAD v4
Xg.49216417G>CCA516377294CACNA1Fc.3201C>G (p.Ala1067=)
c.3039C>G (p.Ala1013=)
c.3234C>G (p.Ala1078=)
c.468C>G (p.Ala156=)
Xg.49216417G=CA2428539714CACNA1Fc.3201C= (p.Ala1067=)
c.3039C= (p.Ala1013=)
c.3234C= (p.Ala1078=)
c.468C= (p.Ala156=)
Xg.49216417G>TCA516377293CACNA1Fc.3201C>A (p.Ala1067=)
c.3039C>A (p.Ala1013=)
c.3234C>A (p.Ala1078=)
c.468C>A (p.Ala156=)
Xg.49216418G>ACA412963927CACNA1Fc.3200C>T (p.Ala1067Val)
c.3038C>T (p.Ala1013Val)
c.3233C>T (p.Ala1078Val)
c.467C>T (p.Ala156Val)
Xg.49216418G>CCA10410515CACNA1Fc.3200C>G (p.Ala1067Gly)
c.3038C>G (p.Ala1013Gly)
c.3233C>G (p.Ala1078Gly)
c.467C>G (p.Ala156Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49216418G=CA2428539715CACNA1Fc.3200C= (p.Ala1067=)
c.3038C= (p.Ala1013=)
c.3233C= (p.Ala1078=)
c.467C= (p.Ala156=)
Xg.49216418G>TCA412963928CACNA1Fc.3200C>A (p.Ala1067Asp)
c.3038C>A (p.Ala1013Asp)
c.3233C>A (p.Ala1078Asp)
c.467C>A (p.Ala156Asp)
Xg.49216419C>ACA412963929CACNA1Fc.3199G>T (p.Ala1067Ser)
c.3037G>T (p.Ala1013Ser)
c.3232G>T (p.Ala1078Ser)
c.466G>T (p.Ala156Ser)
Xg.49216419C>GCA412963930CACNA1Fc.3199G>C (p.Ala1067Pro)
c.3037G>C (p.Ala1013Pro)
c.3232G>C (p.Ala1078Pro)
c.466G>C (p.Ala156Pro)
Xg.49216419C>TCA412963931CACNA1Fc.3199G>A (p.Ala1067Thr)
c.3037G>A (p.Ala1013Thr)
c.3232G>A (p.Ala1078Thr)
c.466G>A (p.Ala156Thr)
Xg.49216420C>ACA412963932CACNA1Fc.3198G>T (p.Met1066Ile)
c.3036G>T (p.Met1012Ile)
c.3231G>T (p.Met1077Ile)
c.465G>T (p.Met155Ile)
Xg.49216420C=CA2428539716CACNA1Fc.3198G= (p.Met1066=)
c.3036G= (p.Met1012=)
c.3231G= (p.Met1077=)
c.465G= (p.Met155=)
Xg.49216420C>GCA412963933CACNA1Fc.3198G>C (p.Met1066Ile)
c.3036G>C (p.Met1012Ile)
c.3231G>C (p.Met1077Ile)
c.465G>C (p.Met155Ile)
Xg.49216420C>TCA10410516CACNA1Fc.3198G>A (p.Met1066Ile)
c.3036G>A (p.Met1012Ile)
c.3231G>A (p.Met1077Ile)
c.465G>A (p.Met155Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.49216421A>CCA412963934CACNA1Fc.3197T>G (p.Met1066Arg)
c.3035T>G (p.Met1012Arg)
c.3230T>G (p.Met1077Arg)
c.464T>G (p.Met155Arg)
Xg.49216421A>GCA412963935CACNA1Fc.3197T>C (p.Met1066Thr)
c.3035T>C (p.Met1012Thr)
c.3230T>C (p.Met1077Thr)
c.464T>C (p.Met155Thr)
 gnomAD v4
Xg.49216421A>TCA412963936CACNA1Fc.3197T>A (p.Met1066Lys)
c.3035T>A (p.Met1012Lys)
c.3230T>A (p.Met1077Lys)
c.464T>A (p.Met155Lys)
Xg.49216422T>ACA412963937CACNA1Fc.3196A>T (p.Met1066Leu)
c.3034A>T (p.Met1012Leu)
c.3229A>T (p.Met1077Leu)
c.463A>T (p.Met155Leu)
Xg.49216422T>CCA412963938CACNA1Fc.3196A>G (p.Met1066Val)
c.3034A>G (p.Met1012Val)
c.3229A>G (p.Met1077Val)
c.463A>G (p.Met155Val)
Xg.49216422T>GCA412963939CACNA1Fc.3196A>C (p.Met1066Leu)
c.3034A>C (p.Met1012Leu)
c.3229A>C (p.Met1077Leu)
c.463A>C (p.Met155Leu)
Xg.49216423C>ACA412963940CACNA1Fc.3195G>T (p.Met1065Ile)
c.3033G>T (p.Met1011Ile)
c.3228G>T (p.Met1076Ile)
c.462G>T (p.Met154Ile)
Xg.49216423C>GCA412963942CACNA1Fc.3195G>C (p.Met1065Ile)
c.3033G>C (p.Met1011Ile)
c.3228G>C (p.Met1076Ile)
c.462G>C (p.Met154Ile)
Xg.49216423C>TCA412963941CACNA1Fc.3195G>A (p.Met1065Ile)
c.3033G>A (p.Met1011Ile)
c.3228G>A (p.Met1076Ile)
c.462G>A (p.Met154Ile)
 COSMIC
Xg.49216424A=CA2428539717CACNA1Fc.3194T= (p.Met1065=)
c.3032T= (p.Met1011=)
c.3227T= (p.Met1076=)
c.461T= (p.Met154=)
Xg.49216424A>CCA412963943CACNA1Fc.3194T>G (p.Met1065Arg)
c.3032T>G (p.Met1011Arg)
c.3227T>G (p.Met1076Arg)
c.461T>G (p.Met154Arg)
Xg.49216424A>GCA412963944CACNA1Fc.3194T>C (p.Met1065Thr)
c.3032T>C (p.Met1011Thr)
c.3227T>C (p.Met1076Thr)
c.461T>C (p.Met154Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.49216424A>TCA412963945CACNA1Fc.3194T>A (p.Met1065Lys)
c.3032T>A (p.Met1011Lys)
c.3227T>A (p.Met1076Lys)
c.461T>A (p.Met154Lys)
Xg.49216425T>ACA412963946CACNA1Fc.3193A>T (p.Met1065Leu)
c.3031A>T (p.Met1011Leu)
c.3226A>T (p.Met1076Leu)
c.460A>T (p.Met154Leu)
Xg.49216425T>CCA412963947CACNA1Fc.3193A>G (p.Met1065Val)
c.3031A>G (p.Met1011Val)
c.3226A>G (p.Met1076Val)
c.460A>G (p.Met154Val)
 COSMIC
Xg.49216425T>GCA412963948CACNA1Fc.3193A>C (p.Met1065Leu)
c.3031A>C (p.Met1011Leu)
c.3226A>C (p.Met1076Leu)
c.460A>C (p.Met154Leu)
Xg.49216426G>ACA516377296CACNA1Fc.3192C>T (p.Ala1064=)
c.3030C>T (p.Ala1010=)
c.3225C>T (p.Ala1075=)
c.459C>T (p.Ala153=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216426G>CCA516377297CACNA1Fc.3192C>G (p.Ala1064=)
c.3030C>G (p.Ala1010=)
c.3225C>G (p.Ala1075=)
c.459C>G (p.Ala153=)
Xg.49216426G=CA2428539718CACNA1Fc.3192C= (p.Ala1064=)
c.3030C= (p.Ala1010=)
c.3225C= (p.Ala1075=)
c.459C= (p.Ala153=)
Xg.49216426G>TCA516377295CACNA1Fc.3192C>A (p.Ala1064=)
c.3030C>A (p.Ala1010=)
c.3225C>A (p.Ala1075=)
c.459C>A (p.Ala153=)
Xg.49216427G>ACA412963949CACNA1Fc.3191C>T (p.Ala1064Val)
c.3029C>T (p.Ala1010Val)
c.3224C>T (p.Ala1075Val)
c.458C>T (p.Ala153Val)
Xg.49216427G>CCA412963950CACNA1Fc.3191C>G (p.Ala1064Gly)
c.3029C>G (p.Ala1010Gly)
c.3224C>G (p.Ala1075Gly)
c.458C>G (p.Ala153Gly)
Xg.49216427G>TCA412963951CACNA1Fc.3191C>A (p.Ala1064Asp)
c.3029C>A (p.Ala1010Asp)
c.3224C>A (p.Ala1075Asp)
c.458C>A (p.Ala153Asp)
Xg.49216428C>ACA412963952CACNA1Fc.3190G>T (p.Ala1064Ser)
c.3028G>T (p.Ala1010Ser)
c.3223G>T (p.Ala1075Ser)
c.457G>T (p.Ala153Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216428C=CA2428539719CACNA1Fc.3190G= (p.Ala1064=)
c.3028G= (p.Ala1010=)
c.3223G= (p.Ala1075=)
c.457G= (p.Ala153=)
Xg.49216428C>GCA412963953CACNA1Fc.3190G>C (p.Ala1064Pro)
c.3028G>C (p.Ala1010Pro)
c.3223G>C (p.Ala1075Pro)
c.457G>C (p.Ala153Pro)
Xg.49216428C>TCA412963954CACNA1Fc.3190G>A (p.Ala1064Thr)
c.3028G>A (p.Ala1010Thr)
c.3223G>A (p.Ala1075Thr)
c.457G>A (p.Ala153Thr)
Xg.49216429T>ACA516377298CACNA1Fc.3189A>T (p.Ser1063=)
c.3027A>T (p.Ser1009=)
c.3222A>T (p.Ser1074=)
c.456A>T (p.Ser152=)
Xg.49216429T>CCA516377299CACNA1Fc.3189A>G (p.Ser1063=)
c.3027A>G (p.Ser1009=)
c.3222A>G (p.Ser1074=)
c.456A>G (p.Ser152=)
Xg.49216429T>GCA516377300CACNA1Fc.3189A>C (p.Ser1063=)
c.3027A>C (p.Ser1009=)
c.3222A>C (p.Ser1074=)
c.456A>C (p.Ser152=)
Xg.49216430G>ACA10410517CACNA1Fc.3188C>T (p.Ser1063Leu)
c.3026C>T (p.Ser1009Leu)
c.3221C>T (p.Ser1074Leu)
c.455C>T (p.Ser152Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49216430G>CCA412963956CACNA1Fc.3188C>G (p.Ser1063Ter)
c.3026C>G (p.Ser1009Ter)
c.3221C>G (p.Ser1074Ter)
c.455C>G (p.Ser152Ter)
Xg.49216430G=CA2428539720CACNA1Fc.3188C= (p.Ser1063=)
c.3026C= (p.Ser1009=)
c.3221C= (p.Ser1074=)
c.455C= (p.Ser152=)
Xg.49216430G>TCA412963955CACNA1Fc.3188C>A (p.Ser1063Ter)
c.3026C>A (p.Ser1009Ter)
c.3221C>A (p.Ser1074Ter)
c.455C>A (p.Ser152Ter)
Xg.49216431A>CCA412963957CACNA1Fc.3187T>G (p.Ser1063Ala)
c.3025T>G (p.Ser1009Ala)
c.3220T>G (p.Ser1074Ala)
c.454T>G (p.Ser152Ala)
Xg.49216431A>GCA412963958CACNA1Fc.3187T>C (p.Ser1063Pro)
c.3025T>C (p.Ser1009Pro)
c.3220T>C (p.Ser1074Pro)
c.454T>C (p.Ser152Pro)
Xg.49216431A>TCA412963959CACNA1Fc.3187T>A (p.Ser1063Thr)
c.3025T>A (p.Ser1009Thr)
c.3220T>A (p.Ser1074Thr)
c.454T>A (p.Ser152Thr)
Xg.49216432A>CCA516377301CACNA1Fc.3186T>G (p.Leu1062=)
c.3024T>G (p.Leu1008=)
c.3219T>G (p.Leu1073=)
c.453T>G (p.Leu151=)
Xg.49216432A>GCA516377302CACNA1Fc.3186T>C (p.Leu1062=)
c.3024T>C (p.Leu1008=)
c.3219T>C (p.Leu1073=)
c.453T>C (p.Leu151=)
Xg.49216432A>TCA516377303CACNA1Fc.3186T>A (p.Leu1062=)
c.3024T>A (p.Leu1008=)
c.3219T>A (p.Leu1073=)
c.453T>A (p.Leu151=)
Xg.49216433A>CCA412963960CACNA1Fc.3185T>G (p.Leu1062Arg)
c.3023T>G (p.Leu1008Arg)
c.3218T>G (p.Leu1073Arg)
c.452T>G (p.Leu151Arg)
Xg.49216433A>GCA412963961CACNA1Fc.3185T>C (p.Leu1062Pro)
c.3023T>C (p.Leu1008Pro)
c.3218T>C (p.Leu1073Pro)
c.452T>C (p.Leu151Pro)
Xg.49216433A>TCA412963962CACNA1Fc.3185T>A (p.Leu1062His)
c.3023T>A (p.Leu1008His)
c.3218T>A (p.Leu1073His)
c.452T>A (p.Leu151His)
Xg.49216434G>ACA412963963CACNA1Fc.3184C>T (p.Leu1062Phe)
c.3022C>T (p.Leu1008Phe)
c.3217C>T (p.Leu1073Phe)
c.451C>T (p.Leu151Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.49216434G>CCA412963964CACNA1Fc.3184C>G (p.Leu1062Val)
c.3022C>G (p.Leu1008Val)
c.3217C>G (p.Leu1073Val)
c.451C>G (p.Leu151Val)
Xg.49216434G=CA2428539721CACNA1Fc.3184C= (p.Leu1062=)
c.3022C= (p.Leu1008=)
c.3217C= (p.Leu1073=)
c.451C= (p.Leu151=)
Xg.49216434G>TCA412963965CACNA1Fc.3184C>A (p.Leu1062Ile)
c.3022C>A (p.Leu1008Ile)
c.3217C>A (p.Leu1073Ile)
c.451C>A (p.Leu151Ile)
Xg.49216435G>ACA516377304CACNA1Fc.3183C>T (p.Val1061=)
c.3021C>T (p.Val1007=)
c.3216C>T (p.Val1072=)
c.450C>T (p.Val150=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216435G>CCA516377305CACNA1Fc.3183C>G (p.Val1061=)
c.3021C>G (p.Val1007=)
c.3216C>G (p.Val1072=)
c.450C>G (p.Val150=)
Xg.49216435G=CA2428539722CACNA1Fc.3183C= (p.Val1061=)
c.3021C= (p.Val1007=)
c.3216C= (p.Val1072=)
c.450C= (p.Val150=)
Xg.49216435G>TCA516377306CACNA1Fc.3183C>A (p.Val1061=)
c.3021C>A (p.Val1007=)
c.3216C>A (p.Val1072=)
c.450C>A (p.Val150=)
Xg.49216436A=CA2428539723CACNA1Fc.3182T= (p.Val1061=)
c.3020T= (p.Val1007=)
c.3215T= (p.Val1072=)
c.449T= (p.Val150=)
Xg.49216436A>CCA412963966CACNA1Fc.3182T>G (p.Val1061Gly)
c.3020T>G (p.Val1007Gly)
c.3215T>G (p.Val1072Gly)
c.449T>G (p.Val150Gly)
Xg.49216436A>GCA412963967CACNA1Fc.3182T>C (p.Val1061Ala)
c.3020T>C (p.Val1007Ala)
c.3215T>C (p.Val1072Ala)
c.449T>C (p.Val150Ala)
Xg.49216436A>TCA412963968CACNA1Fc.3182T>A (p.Val1061Asp)
c.3020T>A (p.Val1007Asp)
c.3215T>A (p.Val1072Asp)
c.449T>A (p.Val150Asp)
 ClinVar dbSNP
Xg.49216437C>ACA412963969CACNA1Fc.3181G>T (p.Val1061Phe)
c.3019G>T (p.Val1007Phe)
c.3214G>T (p.Val1072Phe)
c.448G>T (p.Val150Phe)
Xg.49216437C=CA2428539724CACNA1Fc.3181G= (p.Val1061=)
c.3019G= (p.Val1007=)
c.3214G= (p.Val1072=)
c.448G= (p.Val150=)
Xg.49216437C>GCA329140235CACNA1Fc.3181G>C (p.Val1061Leu)
c.3019G>C (p.Val1007Leu)
c.3214G>C (p.Val1072Leu)
c.448G>C (p.Val150Leu)
 ClinVar dbSNP
Xg.49216437C>TCA412963970CACNA1Fc.3181G>A (p.Val1061Ile)
c.3019G>A (p.Val1007Ile)
c.3214G>A (p.Val1072Ile)
c.448G>A (p.Val150Ile)
Xg.49216438A=CA2428539725CACNA1Fc.3180T= (p.Asn1060=)
c.3018T= (p.Asn1006=)
c.3213T= (p.Asn1071=)
c.447T= (p.Asn149=)
Xg.49216438A>CCA412963971CACNA1Fc.3180T>G (p.Asn1060Lys)
c.3018T>G (p.Asn1006Lys)
c.3213T>G (p.Asn1071Lys)
c.447T>G (p.Asn149Lys)
 ClinVar dbSNP
Xg.49216438A>GCA516377307CACNA1Fc.3180T>C (p.Asn1060=)
c.3018T>C (p.Asn1006=)
c.3213T>C (p.Asn1071=)
c.447T>C (p.Asn149=)
Xg.49216438A>TCA412963972CACNA1Fc.3180T>A (p.Asn1060Lys)
c.3018T>A (p.Asn1006Lys)
c.3213T>A (p.Asn1071Lys)
c.447T>A (p.Asn149Lys)
Xg.49216438_49216439delCA2695233569CACNA1Fc.3179_3180del (p.Asn1060SerfsTer15)
c.3017_3018del (p.Asn1006SerfsTer15)
c.3212_3213del (p.Asn1071SerfsTer15)
c.446_447del (p.Asn149SerfsTer15)
Xg.49216439T>ACA412963973CACNA1Fc.3179A>T (p.Asn1060Ile)
c.3017A>T (p.Asn1006Ile)
c.3212A>T (p.Asn1071Ile)
c.446A>T (p.Asn149Ile)
Xg.49216439T>CCA412963974CACNA1Fc.3179A>G (p.Asn1060Ser)
c.3017A>G (p.Asn1006Ser)
c.3212A>G (p.Asn1071Ser)
c.446A>G (p.Asn149Ser)
Xg.49216439T>GCA412963975CACNA1Fc.3179A>C (p.Asn1060Thr)
c.3017A>C (p.Asn1006Thr)
c.3212A>C (p.Asn1071Thr)
c.446A>C (p.Asn149Thr)
Xg.49216440T>ACA412963976CACNA1Fc.3178A>T (p.Asn1060Tyr)
c.3016A>T (p.Asn1006Tyr)
c.3211A>T (p.Asn1071Tyr)
c.445A>T (p.Asn149Tyr)
Xg.49216440T>CCA412963977CACNA1Fc.3178A>G (p.Asn1060Asp)
c.3016A>G (p.Asn1006Asp)
c.3211A>G (p.Asn1071Asp)
c.445A>G (p.Asn149Asp)
Xg.49216440T>GCA412963978CACNA1Fc.3178A>C (p.Asn1060His)
c.3016A>C (p.Asn1006His)
c.3211A>C (p.Asn1071His)
c.445A>C (p.Asn149His)
Xg.49216441G>ACA516377308CACNA1Fc.3177C>T (p.Asp1059=)
c.3015C>T (p.Asp1005=)
c.3210C>T (p.Asp1070=)
c.444C>T (p.Asp148=)
Xg.49216441G>CCA412963979CACNA1Fc.3177C>G (p.Asp1059Glu)
c.3015C>G (p.Asp1005Glu)
c.3210C>G (p.Asp1070Glu)
c.444C>G (p.Asp148Glu)
Xg.49216441G>TCA412963980CACNA1Fc.3177C>A (p.Asp1059Glu)
c.3015C>A (p.Asp1005Glu)
c.3210C>A (p.Asp1070Glu)
c.444C>A (p.Asp148Glu)
Xg.49216442T>ACA412963981CACNA1Fc.3176A>T (p.Asp1059Val)
c.3014A>T (p.Asp1005Val)
c.3209A>T (p.Asp1070Val)
c.443A>T (p.Asp148Val)
Xg.49216442T>CCA412963982CACNA1Fc.3176A>G (p.Asp1059Gly)
c.3014A>G (p.Asp1005Gly)
c.3209A>G (p.Asp1070Gly)
c.443A>G (p.Asp148Gly)
Xg.49216442T>GCA412963983CACNA1Fc.3176A>C (p.Asp1059Ala)
c.3014A>C (p.Asp1005Ala)
c.3209A>C (p.Asp1070Ala)
c.443A>C (p.Asp148Ala)
 gnomAD v4
Xg.49216443C>ACA412963985CACNA1Fc.3175G>T (p.Asp1059Tyr)
c.3013G>T (p.Asp1005Tyr)
c.3208G>T (p.Asp1070Tyr)
c.442G>T (p.Asp148Tyr)
Xg.49216443C=CA2428539726CACNA1Fc.3175G= (p.Asp1059=)
c.3013G= (p.Asp1005=)
c.3208G= (p.Asp1070=)
c.442G= (p.Asp148=)
Xg.49216443C>GCA412963984CACNA1Fc.3175G>C (p.Asp1059His)
c.3013G>C (p.Asp1005His)
c.3208G>C (p.Asp1070His)
c.442G>C (p.Asp148His)
Xg.49216443C>TCA10410518CACNA1Fc.3175G>A (p.Asp1059Asn)
c.3013G>A (p.Asp1005Asn)
c.3208G>A (p.Asp1070Asn)
c.442G>A (p.Asp148Asn)
 dbSNP ExAC
Xg.49216444A>CCA412963986CACNA1Fc.3174T>G (p.Phe1058Leu)
c.3012T>G (p.Phe1004Leu)
c.3207T>G (p.Phe1069Leu)
c.441T>G (p.Phe147Leu)
Xg.49216444A>GCA516377309CACNA1Fc.3174T>C (p.Phe1058=)
c.3012T>C (p.Phe1004=)
c.3207T>C (p.Phe1069=)
c.441T>C (p.Phe147=)
Xg.49216444A>TCA412963987CACNA1Fc.3174T>A (p.Phe1058Leu)
c.3012T>A (p.Phe1004Leu)
c.3207T>A (p.Phe1069Leu)
c.441T>A (p.Phe147Leu)
Xg.49216445A>CCA412963988CACNA1Fc.3173T>G (p.Phe1058Cys)
c.3011T>G (p.Phe1004Cys)
c.3206T>G (p.Phe1069Cys)
c.440T>G (p.Phe147Cys)
Xg.49216445A>GCA412963989CACNA1Fc.3173T>C (p.Phe1058Ser)
c.3011T>C (p.Phe1004Ser)
c.3206T>C (p.Phe1069Ser)
c.440T>C (p.Phe147Ser)
Xg.49216445A>TCA412963990CACNA1Fc.3173T>A (p.Phe1058Tyr)
c.3011T>A (p.Phe1004Tyr)
c.3206T>A (p.Phe1069Tyr)
c.440T>A (p.Phe147Tyr)
Xg.49216446A>CCA412963991CACNA1Fc.3172T>G (p.Phe1058Val)
c.3010T>G (p.Phe1004Val)
c.3205T>G (p.Phe1069Val)
c.439T>G (p.Phe147Val)
Xg.49216446A>GCA412963992CACNA1Fc.3172T>C (p.Phe1058Leu)
c.3010T>C (p.Phe1004Leu)
c.3205T>C (p.Phe1069Leu)
c.439T>C (p.Phe147Leu)
Xg.49216446A>TCA412963993CACNA1Fc.3172T>A (p.Phe1058Ile)
c.3010T>A (p.Phe1004Ile)
c.3205T>A (p.Phe1069Ile)
c.439T>A (p.Phe147Ile)
Xg.49216447G>ACA516377310CACNA1Fc.3171C>T (p.Asn1057=)
c.3009C>T (p.Asn1003=)
c.3204C>T (p.Asn1068=)
c.438C>T (p.Asn146=)
 dbSNP gnomAD v2
Xg.49216447G>CCA412963994CACNA1Fc.3171C>G (p.Asn1057Lys)
c.3009C>G (p.Asn1003Lys)
c.3204C>G (p.Asn1068Lys)
c.438C>G (p.Asn146Lys)
Xg.49216447G=CA2428539727CACNA1Fc.3171C= (p.Asn1057=)
c.3009C= (p.Asn1003=)
c.3204C= (p.Asn1068=)
c.438C= (p.Asn146=)
Xg.49216447G>TCA412963995CACNA1Fc.3171C>A (p.Asn1057Lys)
c.3009C>A (p.Asn1003Lys)
c.3204C>A (p.Asn1068Lys)
c.438C>A (p.Asn146Lys)
 dbSNP
Xg.49216448T>ACA412963996CACNA1Fc.3170A>T (p.Asn1057Ile)
c.3008A>T (p.Asn1003Ile)
c.3203A>T (p.Asn1068Ile)
c.437A>T (p.Asn146Ile)
Xg.49216448T>CCA412963997CACNA1Fc.3170A>G (p.Asn1057Ser)
c.3008A>G (p.Asn1003Ser)
c.3203A>G (p.Asn1068Ser)
c.437A>G (p.Asn146Ser)
Xg.49216448T>GCA412963998CACNA1Fc.3170A>C (p.Asn1057Thr)
c.3008A>C (p.Asn1003Thr)
c.3203A>C (p.Asn1068Thr)
c.437A>C (p.Asn146Thr)
Xg.49216449T>ACA412964000CACNA1Fc.3169A>T (p.Asn1057Tyr)
c.3007A>T (p.Asn1003Tyr)
c.3202A>T (p.Asn1068Tyr)
c.436A>T (p.Asn146Tyr)
Xg.49216449T>CCA412964001CACNA1Fc.3169A>G (p.Asn1057Asp)
c.3007A>G (p.Asn1003Asp)
c.3202A>G (p.Asn1068Asp)
c.436A>G (p.Asn146Asp)
Xg.49216449T>GCA412963999CACNA1Fc.3169A>C (p.Asn1057His)
c.3007A>C (p.Asn1003His)
c.3202A>C (p.Asn1068His)
c.436A>C (p.Asn146His)
Xg.49216450G>ACA516377311CACNA1Fc.3168C>T (p.Phe1056=)
c.3006C>T (p.Phe1002=)
c.3201C>T (p.Phe1067=)
c.435C>T (p.Phe145=)
Xg.49216450G>CCA412964002CACNA1Fc.3168C>G (p.Phe1056Leu)
c.3006C>G (p.Phe1002Leu)
c.3201C>G (p.Phe1067Leu)
c.435C>G (p.Phe145Leu)
Xg.49216450G>TCA412964003CACNA1Fc.3168C>A (p.Phe1056Leu)
c.3006C>A (p.Phe1002Leu)
c.3201C>A (p.Phe1067Leu)
c.435C>A (p.Phe145Leu)
Xg.49216451A>CCA412964004CACNA1Fc.3167T>G (p.Phe1056Cys)
c.3005T>G (p.Phe1002Cys)
c.3200T>G (p.Phe1067Cys)
c.434T>G (p.Phe145Cys)
Xg.49216451A>GCA412964005CACNA1Fc.3167T>C (p.Phe1056Ser)
c.3005T>C (p.Phe1002Ser)
c.3200T>C (p.Phe1067Ser)
c.434T>C (p.Phe145Ser)
Xg.49216451A>TCA412964006CACNA1Fc.3167T>A (p.Phe1056Tyr)
c.3005T>A (p.Phe1002Tyr)
c.3200T>A (p.Phe1067Tyr)
c.434T>A (p.Phe145Tyr)
Xg.49216452A>CCA412964007CACNA1Fc.3166T>G (p.Phe1056Val)
c.3004T>G (p.Phe1002Val)
c.3199T>G (p.Phe1067Val)
c.433T>G (p.Phe145Val)
Xg.49216452A>GCA412964008CACNA1Fc.3166T>C (p.Phe1056Leu)
c.3004T>C (p.Phe1002Leu)
c.3199T>C (p.Phe1067Leu)
c.433T>C (p.Phe145Leu)
Xg.49216452A>TCA412964009CACNA1Fc.3166T>A (p.Phe1056Ile)
c.3004T>A (p.Phe1002Ile)
c.3199T>A (p.Phe1067Ile)
c.433T>A (p.Phe145Ile)
Xg.49216453A>CCA412964010CACNA1Fc.3165T>G (p.Asp1055Glu)
c.3003T>G (p.Asp1001Glu)
c.3198T>G (p.Asp1066Glu)
c.432T>G (p.Asp144Glu)
Xg.49216453A>GCA516377312CACNA1Fc.3165T>C (p.Asp1055=)
c.3003T>C (p.Asp1001=)
c.3198T>C (p.Asp1066=)
c.432T>C (p.Asp144=)
Xg.49216453A>TCA412964011CACNA1Fc.3165T>A (p.Asp1055Glu)
c.3003T>A (p.Asp1001Glu)
c.3198T>A (p.Asp1066Glu)
c.432T>A (p.Asp144Glu)
Xg.49216454T>ACA412964012CACNA1Fc.3164A>T (p.Asp1055Val)
c.3002A>T (p.Asp1001Val)
c.3197A>T (p.Asp1066Val)
c.431A>T (p.Asp144Val)
 dbSNP
Xg.49216454T>CCA412964013CACNA1Fc.3164A>G (p.Asp1055Gly)
c.3002A>G (p.Asp1001Gly)
c.3197A>G (p.Asp1066Gly)
c.431A>G (p.Asp144Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216454T>GCA412964014CACNA1Fc.3164A>C (p.Asp1055Ala)
c.3002A>C (p.Asp1001Ala)
c.3197A>C (p.Asp1066Ala)
c.431A>C (p.Asp144Ala)
Xg.49216454T=CA2428539728CACNA1Fc.3164A= (p.Asp1055=)
c.3002A= (p.Asp1001=)
c.3197A= (p.Asp1066=)
c.431A= (p.Asp144=)
Xg.49216455C>ACA412964015CACNA1Fc.3163G>T (p.Asp1055Tyr)
c.3001G>T (p.Asp1001Tyr)
c.3196G>T (p.Asp1066Tyr)
c.430G>T (p.Asp144Tyr)
Xg.49216455C=CA2428539729CACNA1Fc.3163G= (p.Asp1055=)
c.3001G= (p.Asp1001=)
c.3196G= (p.Asp1066=)
c.430G= (p.Asp144=)
Xg.49216455C>GCA412964017CACNA1Fc.3163G>C (p.Asp1055His)
c.3001G>C (p.Asp1001His)
c.3196G>C (p.Asp1066His)
c.430G>C (p.Asp144His)
Xg.49216455C>TCA412964016CACNA1Fc.3163G>A (p.Asp1055Asn)
c.3001G>A (p.Asp1001Asn)
c.3196G>A (p.Asp1066Asn)
c.430G>A (p.Asp144Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216456A>CCA412964018CACNA1Fc.3162T>G (p.Ser1054Arg)
c.3000T>G (p.Ser1000Arg)
c.3195T>G (p.Ser1065Arg)
c.429T>G (p.Ser143Arg)
 COSMIC
Xg.49216456A>GCA516377313CACNA1Fc.3162T>C (p.Ser1054=)
c.3000T>C (p.Ser1000=)
c.3195T>C (p.Ser1065=)
c.429T>C (p.Ser143=)
Xg.49216456A>TCA412964019CACNA1Fc.3162T>A (p.Ser1054Arg)
c.3000T>A (p.Ser1000Arg)
c.3195T>A (p.Ser1065Arg)
c.429T>A (p.Ser143Arg)
Xg.49216457C>ACA412964020CACNA1Fc.3161G>T (p.Ser1054Ile)
c.2999G>T (p.Ser1000Ile)
c.3194G>T (p.Ser1065Ile)
c.428G>T (p.Ser143Ile)
Xg.49216457C=CA2428539730CACNA1Fc.3161G= (p.Ser1054=)
c.2999G= (p.Ser1000=)
c.3194G= (p.Ser1065=)
c.428G= (p.Ser143=)
Xg.49216457C>GCA412964021CACNA1Fc.3161G>C (p.Ser1054Thr)
c.2999G>C (p.Ser1000Thr)
c.3194G>C (p.Ser1065Thr)
c.428G>C (p.Ser143Thr)
Xg.49216457C>TCA412964022CACNA1Fc.3161G>A (p.Ser1054Asn)
c.2999G>A (p.Ser1000Asn)
c.3194G>A (p.Ser1065Asn)
c.428G>A (p.Ser143Asn)
 dbSNP
Xg.49216458T>ACA412964023CACNA1Fc.3160A>T (p.Ser1054Cys)
c.2998A>T (p.Ser1000Cys)
c.3193A>T (p.Ser1065Cys)
c.427A>T (p.Ser143Cys)
Xg.49216458T>CCA412964024CACNA1Fc.3160A>G (p.Ser1054Gly)
c.2998A>G (p.Ser1000Gly)
c.3193A>G (p.Ser1065Gly)
c.427A>G (p.Ser143Gly)
 dbSNP
Xg.49216458T>GCA412964025CACNA1Fc.3160A>C (p.Ser1054Arg)
c.2998A>C (p.Ser1000Arg)
c.3193A>C (p.Ser1065Arg)
c.427A>C (p.Ser143Arg)
Xg.49216458T=CA2428539731CACNA1Fc.3160A= (p.Ser1054=)
c.2998A= (p.Ser1000=)
c.3193A= (p.Ser1065=)
c.427A= (p.Ser143=)
Xg.49216459G>ACA516377314CACNA1Fc.3159C>T (p.Asn1053=)
c.2997C>T (p.Asn999=)
c.3192C>T (p.Asn1064=)
c.426C>T (p.Asn142=)
Xg.49216459G>CCA412964026CACNA1Fc.3159C>G (p.Asn1053Lys)
c.2997C>G (p.Asn999Lys)
c.3192C>G (p.Asn1064Lys)
c.426C>G (p.Asn142Lys)
Xg.49216459G=CA2428539732CACNA1Fc.3159C= (p.Asn1053=)
c.2997C= (p.Asn999=)
c.3192C= (p.Asn1064=)
c.426C= (p.Asn142=)
Xg.49216459G>TCA10410519CACNA1Fc.3159C>A (p.Asn1053Lys)
c.2997C>A (p.Asn999Lys)
c.3192C>A (p.Asn1064Lys)
c.426C>A (p.Asn142Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216460T>ACA412964029CACNA1Fc.3158A>T (p.Asn1053Ile)
c.2996A>T (p.Asn999Ile)
c.3191A>T (p.Asn1064Ile)
c.425A>T (p.Asn142Ile)
Xg.49216460T>CCA412964028CACNA1Fc.3158A>G (p.Asn1053Ser)
c.2996A>G (p.Asn999Ser)
c.3191A>G (p.Asn1064Ser)
c.425A>G (p.Asn142Ser)
Xg.49216460T>GCA412964027CACNA1Fc.3158A>C (p.Asn1053Thr)
c.2996A>C (p.Asn999Thr)
c.3191A>C (p.Asn1064Thr)
c.425A>C (p.Asn142Thr)
Xg.49216461T>ACA412964030CACNA1Fc.3157A>T (p.Asn1053Tyr)
c.2995A>T (p.Asn999Tyr)
c.3190A>T (p.Asn1064Tyr)
c.424A>T (p.Asn142Tyr)
Xg.49216461T>CCA412964032CACNA1Fc.3157A>G (p.Asn1053Asp)
c.2995A>G (p.Asn999Asp)
c.3190A>G (p.Asn1064Asp)
c.424A>G (p.Asn142Asp)
Xg.49216461T>GCA412964031CACNA1Fc.3157A>C (p.Asn1053His)
c.2995A>C (p.Asn999His)
c.3190A>C (p.Asn1064His)
c.424A>C (p.Asn142His)
 gnomAD v4
Xg.49216462G>ACA516377315CACNA1Fc.3156C>T (p.Val1052=)
c.2994C>T (p.Val998=)
c.3189C>T (p.Val1063=)
c.423C>T (p.Val141=)
Xg.49216462G>CCA516377316CACNA1Fc.3156C>G (p.Val1052=)
c.2994C>G (p.Val998=)
c.3189C>G (p.Val1063=)
c.423C>G (p.Val141=)
 gnomAD v4
Xg.49216462G>TCA516377317CACNA1Fc.3156C>A (p.Val1052=)
c.2994C>A (p.Val998=)
c.3189C>A (p.Val1063=)
c.423C>A (p.Val141=)
Xg.49216463A>CCA412964033CACNA1Fc.3155T>G (p.Val1052Gly)
c.2993T>G (p.Val998Gly)
c.3188T>G (p.Val1063Gly)
c.422T>G (p.Val141Gly)
Xg.49216463A>GCA412964034CACNA1Fc.3155T>C (p.Val1052Ala)
c.2993T>C (p.Val998Ala)
c.3188T>C (p.Val1063Ala)
c.422T>C (p.Val141Ala)
 gnomAD v4
Xg.49216463A>TCA412964035CACNA1Fc.3155T>A (p.Val1052Asp)
c.2993T>A (p.Val998Asp)
c.3188T>A (p.Val1063Asp)
c.422T>A (p.Val141Asp)
Xg.49216464C>ACA412964036CACNA1Fc.3154G>T (p.Val1052Phe)
c.2992G>T (p.Val998Phe)
c.3187G>T (p.Val1063Phe)
c.421G>T (p.Val141Phe)
Xg.49216464C=CA2428539733CACNA1Fc.3154G= (p.Val1052=)
c.2992G= (p.Val998=)
c.3187G= (p.Val1063=)
c.421G= (p.Val141=)
Xg.49216464C>GCA412964037CACNA1Fc.3154G>C (p.Val1052Leu)
c.2992G>C (p.Val998Leu)
c.3187G>C (p.Val1063Leu)
c.421G>C (p.Val141Leu)
Xg.49216464C>TCA412964038CACNA1Fc.3154G>A (p.Val1052Ile)
c.2992G>A (p.Val998Ile)
c.3187G>A (p.Val1063Ile)
c.421G>A (p.Val141Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216465C>ACA412964039CACNA1Fc.3153G>T (p.Trp1051Cys)
c.2991G>T (p.Trp997Cys)
c.3186G>T (p.Trp1062Cys)
c.420G>T (p.Trp140Cys)
Xg.49216465C=CA2428539734CACNA1Fc.3153G= (p.Trp1051=)
c.2991G= (p.Trp997=)
c.3186G= (p.Trp1062=)
c.420G= (p.Trp140=)
Xg.49216465C>GCA412964040CACNA1Fc.3153G>C (p.Trp1051Cys)
c.2991G>C (p.Trp997Cys)
c.3186G>C (p.Trp1062Cys)
c.420G>C (p.Trp140Cys)
Xg.49216465C>TCA412964041CACNA1Fc.3153G>A (p.Trp1051Ter)
c.2991G>A (p.Trp997Ter)
c.3186G>A (p.Trp1062Ter)
c.420G>A (p.Trp140Ter)
 ClinVar dbSNP
Xg.49216466C>ACA412964042CACNA1Fc.3152G>T (p.Trp1051Leu)
c.2990G>T (p.Trp997Leu)
c.3185G>T (p.Trp1062Leu)
c.419G>T (p.Trp140Leu)
 COSMIC
Xg.49216466C>GCA412964043CACNA1Fc.3152G>C (p.Trp1051Ser)
c.2990G>C (p.Trp997Ser)
c.3185G>C (p.Trp1062Ser)
c.419G>C (p.Trp140Ser)
Xg.49216466C>TCA412964044CACNA1Fc.3152G>A (p.Trp1051Ter)
c.2990G>A (p.Trp997Ter)
c.3185G>A (p.Trp1062Ter)
c.419G>A (p.Trp140Ter)
Xg.49216467A>CCA412964047CACNA1Fc.3151T>G (p.Trp1051Gly)
c.2989T>G (p.Trp997Gly)
c.3184T>G (p.Trp1062Gly)
c.418T>G (p.Trp140Gly)
Xg.49216467A>GCA412964045CACNA1Fc.3151T>C (p.Trp1051Arg)
c.2989T>C (p.Trp997Arg)
c.3184T>C (p.Trp1062Arg)
c.418T>C (p.Trp140Arg)
Xg.49216467A>TCA412964046CACNA1Fc.3151T>A (p.Trp1051Arg)
c.2989T>A (p.Trp997Arg)
c.3184T>A (p.Trp1062Arg)
c.418T>A (p.Trp140Arg)
Xg.49216468G>ACA516377320CACNA1Fc.3150C>T (p.Leu1050=)
c.2988C>T (p.Leu996=)
c.3183C>T (p.Leu1061=)
c.417C>T (p.Leu139=)
Xg.49216468G>CCA516377319CACNA1Fc.3150C>G (p.Leu1050=)
c.2988C>G (p.Leu996=)
c.3183C>G (p.Leu1061=)
c.417C>G (p.Leu139=)
Xg.49216468G>TCA516377318CACNA1Fc.3150C>A (p.Leu1050=)
c.2988C>A (p.Leu996=)
c.3183C>A (p.Leu1061=)
c.417C>A (p.Leu139=)
Xg.49216469A>CCA412964048CACNA1Fc.3149T>G (p.Leu1050Arg)
c.2987T>G (p.Leu996Arg)
c.3182T>G (p.Leu1061Arg)
c.416T>G (p.Leu139Arg)
Xg.49216469A>GCA412964049CACNA1Fc.3149T>C (p.Leu1050Pro)
c.2987T>C (p.Leu996Pro)
c.3182T>C (p.Leu1061Pro)
c.416T>C (p.Leu139Pro)
Xg.49216469A>TCA412964050CACNA1Fc.3149T>A (p.Leu1050His)
c.2987T>A (p.Leu996His)
c.3182T>A (p.Leu1061His)
c.416T>A (p.Leu139His)
Xg.49216470G>ACA412964051CACNA1Fc.3148C>T (p.Leu1050Phe)
c.2986C>T (p.Leu996Phe)
c.3181C>T (p.Leu1061Phe)
c.415C>T (p.Leu139Phe)
Xg.49216470G>CCA412964052CACNA1Fc.3148C>G (p.Leu1050Val)
c.2986C>G (p.Leu996Val)
c.3181C>G (p.Leu1061Val)
c.415C>G (p.Leu139Val)
Xg.49216470G>TCA412964053CACNA1Fc.3148C>A (p.Leu1050Ile)
c.2986C>A (p.Leu996Ile)
c.3181C>A (p.Leu1061Ile)
c.415C>A (p.Leu139Ile)
Xg.49216471C>ACA516377321CACNA1Fc.3147G>T (p.Arg1049=)
c.2985G>T (p.Arg995=)
c.3180G>T (p.Arg1060=)
c.414G>T (p.Arg138=)
Xg.49216471C=CA2428539735CACNA1Fc.3147G= (p.Arg1049=)
c.2985G= (p.Arg995=)
c.3180G= (p.Arg1060=)
c.414G= (p.Arg138=)
Xg.49216471C>GCA329140242CACNA1Fc.3147G>C (p.Arg1049=)
c.2985G>C (p.Arg995=)
c.3180G>C (p.Arg1060=)
c.414G>C (p.Arg138=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216471C>TCA516377322CACNA1Fc.3147G>A (p.Arg1049=)
c.2985G>A (p.Arg995=)
c.3180G>A (p.Arg1060=)
c.414G>A (p.Arg138=)
Xg.49216472C>ACA412964054CACNA1Fc.3146G>T (p.Arg1049Leu)
c.2984G>T (p.Arg995Leu)
c.3179G>T (p.Arg1060Leu)
c.413G>T (p.Arg138Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.49216472C=CA2428539736CACNA1Fc.3146G= (p.Arg1049=)
c.2984G= (p.Arg995=)
c.3179G= (p.Arg1060=)
c.413G= (p.Arg138=)
Xg.49216472C>GCA412964055CACNA1Fc.3146G>C (p.Arg1049Pro)
c.2984G>C (p.Arg995Pro)
c.3179G>C (p.Arg1060Pro)
c.413G>C (p.Arg138Pro)
 gnomAD v4
Xg.49216472C>TCA10410520CACNA1Fc.3146G>A (p.Arg1049Gln)
c.2984G>A (p.Arg995Gln)
c.3179G>A (p.Arg1060Gln)
c.413G>A (p.Arg138Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.49216473G>ACA412964056CACNA1Fc.3145C>T (p.Arg1049Trp)
c.2983C>T (p.Arg995Trp)
c.3178C>T (p.Arg1060Trp)
c.412C>T (p.Arg138Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.49216473G>CCA412964057CACNA1Fc.3145C>G (p.Arg1049Gly)
c.2983C>G (p.Arg995Gly)
c.3178C>G (p.Arg1060Gly)
c.412C>G (p.Arg138Gly)
Xg.49216473G>TCA516377323CACNA1Fc.3145C>A (p.Arg1049=)
c.2983C>A (p.Arg995=)
c.3178C>A (p.Arg1060=)
c.412C>A (p.Arg138=)
 gnomAD v4
Xg.49216474C>ACA412964059CACNA1Fc.3144G>T (p.Glu1048Asp)
c.2982G>T (p.Glu994Asp)
c.3177G>T (p.Glu1059Asp)
c.411G>T (p.Glu137Asp)
 dbSNP gnomAD v4
Xg.49216474C=CA2428539737CACNA1Fc.3144G= (p.Glu1048=)
c.2982G= (p.Glu994=)
c.3177G= (p.Glu1059=)
c.411G= (p.Glu137=)
Xg.49216474C>GCA412964058CACNA1Fc.3144G>C (p.Glu1048Asp)
c.2982G>C (p.Glu994Asp)
c.3177G>C (p.Glu1059Asp)
c.411G>C (p.Glu137Asp)
Xg.49216474C>TCA516377324CACNA1Fc.3144G>A (p.Glu1048=)
c.2982G>A (p.Glu994=)
c.3177G>A (p.Glu1059=)
c.411G>A (p.Glu137=)
 COSMIC
Xg.49216475T>ACA412964060CACNA1Fc.3143A>T (p.Glu1048Val)
c.2981A>T (p.Glu994Val)
c.3176A>T (p.Glu1059Val)
c.410A>T (p.Glu137Val)
Xg.49216475T>CCA412964061CACNA1Fc.3143A>G (p.Glu1048Gly)
c.2981A>G (p.Glu994Gly)
c.3176A>G (p.Glu1059Gly)
c.410A>G (p.Glu137Gly)
Xg.49216475T>GCA412964062CACNA1Fc.3143A>C (p.Glu1048Ala)
c.2981A>C (p.Glu994Ala)
c.3176A>C (p.Glu1059Ala)
c.410A>C (p.Glu137Ala)
Xg.49216476C>ACA412964063CACNA1Fc.3142G>T (p.Glu1048Ter)
c.2980G>T (p.Glu994Ter)
c.3175G>T (p.Glu1059Ter)
c.409G>T (p.Glu137Ter)
Xg.49216476C>GCA412964064CACNA1Fc.3142G>C (p.Glu1048Gln)
c.2980G>C (p.Glu994Gln)
c.3175G>C (p.Glu1059Gln)
c.409G>C (p.Glu137Gln)
Xg.49216476C>TCA412964065CACNA1Fc.3142G>A (p.Glu1048Lys)
c.2980G>A (p.Glu994Lys)
c.3175G>A (p.Glu1059Lys)
c.409G>A (p.Glu137Lys)
Xg.49216477C>ACA516377325CACNA1Fc.3141G>T (p.Arg1047=)
c.2979G>T (p.Arg993=)
c.3174G>T (p.Arg1058=)
c.408G>T (p.Arg136=)
Xg.49216477C>GCA516377326CACNA1Fc.3141G>C (p.Arg1047=)
c.2979G>C (p.Arg993=)
c.3174G>C (p.Arg1058=)
c.408G>C (p.Arg136=)
Xg.49216477C>TCA516377327CACNA1Fc.3141G>A (p.Arg1047=)
c.2979G>A (p.Arg993=)
c.3174G>A (p.Arg1058=)
c.408G>A (p.Arg136=)
Xg.49216478C>ACA412964067CACNA1Fc.3140G>T (p.Arg1047Leu)
c.2978G>T (p.Arg993Leu)
c.3173G>T (p.Arg1058Leu)
c.407G>T (p.Arg136Leu)
Xg.49216478C=CA2428539738CACNA1Fc.3140G= (p.Arg1047=)
c.2978G= (p.Arg993=)
c.3173G= (p.Arg1058=)
c.407G= (p.Arg136=)
Xg.49216478C>GCA412964066CACNA1Fc.3140G>C (p.Arg1047Pro)
c.2978G>C (p.Arg993Pro)
c.3173G>C (p.Arg1058Pro)
c.407G>C (p.Arg136Pro)
Xg.49216478C>TCA10410521CACNA1Fc.3140G>A (p.Arg1047Gln)
c.2978G>A (p.Arg993Gln)
c.3173G>A (p.Arg1058Gln)
c.407G>A (p.Arg136Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.49216479G>ACA10410522CACNA1Fc.3139C>T (p.Arg1047Trp)
c.2977C>T (p.Arg993Trp)
c.3172C>T (p.Arg1058Trp)
c.406C>T (p.Arg136Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216479G>CCA412964068CACNA1Fc.3139C>G (p.Arg1047Gly)
c.2977C>G (p.Arg993Gly)
c.3172C>G (p.Arg1058Gly)
c.406C>G (p.Arg136Gly)
Xg.49216479G=CA2428539739CACNA1Fc.3139C= (p.Arg1047=)
c.2977C= (p.Arg993=)
c.3172C= (p.Arg1058=)
c.406C= (p.Arg136=)
Xg.49216479G>TCA516377328CACNA1Fc.3139C>A (p.Arg1047=)
c.2977C>A (p.Arg993=)
c.3172C>A (p.Arg1058=)
c.406C>A (p.Arg136=)
Xg.49216480G>ACA516377329CACNA1Fc.3138C>T (p.Val1046=)
c.2976C>T (p.Val992=)
c.3171C>T (p.Val1057=)
c.405C>T (p.Val135=)
Xg.49216480G>CCA516377330CACNA1Fc.3138C>G (p.Val1046=)
c.2976C>G (p.Val992=)
c.3171C>G (p.Val1057=)
c.405C>G (p.Val135=)
Xg.49216480G>TCA516377331CACNA1Fc.3138C>A (p.Val1046=)
c.2976C>A (p.Val992=)
c.3171C>A (p.Val1057=)
c.405C>A (p.Val135=)
Xg.49216481A>CCA412964069CACNA1Fc.3137T>G (p.Val1046Gly)
c.2975T>G (p.Val992Gly)
c.3170T>G (p.Val1057Gly)
c.404T>G (p.Val135Gly)
Xg.49216481A>GCA412964070CACNA1Fc.3137T>C (p.Val1046Ala)
c.2975T>C (p.Val992Ala)
c.3170T>C (p.Val1057Ala)
c.404T>C (p.Val135Ala)
Xg.49216481A>TCA412964071CACNA1Fc.3137T>A (p.Val1046Asp)
c.2975T>A (p.Val992Asp)
c.3170T>A (p.Val1057Asp)
c.404T>A (p.Val135Asp)

Number of alleles fetched