Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
Xg.49216482C>ACA412964073CACNA1Fc.3136G>T (p.Val1046Phe)
c.2974G>T (p.Val992Phe)
c.3169G>T (p.Val1057Phe)
c.403G>T (p.Val135Phe)
Xg.49216482C=CA2428539740CACNA1Fc.3136G= (p.Val1046=)
c.2974G= (p.Val992=)
c.3169G= (p.Val1057=)
c.403G= (p.Val135=)
Xg.49216482C>GCA412964072CACNA1Fc.3136G>C (p.Val1046Leu)
c.2974G>C (p.Val992Leu)
c.3169G>C (p.Val1057Leu)
c.403G>C (p.Val135Leu)
Xg.49216482C>TCA10410523CACNA1Fc.3136G>A (p.Val1046Ile)
c.2974G>A (p.Val992Ile)
c.3169G>A (p.Val1057Ile)
c.403G>A (p.Val135Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216483C>ACA516377333CACNA1Fc.3135G>T (p.Leu1045=)
c.2973G>T (p.Leu991=)
c.3168G>T (p.Leu1056=)
c.402G>T (p.Leu134=)
Xg.49216483C=CA2428539741CACNA1Fc.3135G= (p.Leu1045=)
c.2973G= (p.Leu991=)
c.3168G= (p.Leu1056=)
c.402G= (p.Leu134=)
Xg.49216483C>GCA516377332CACNA1Fc.3135G>C (p.Leu1045=)
c.2973G>C (p.Leu991=)
c.3168G>C (p.Leu1056=)
c.402G>C (p.Leu134=)
Xg.49216483C>TCA10410524CACNA1Fc.3135G>A (p.Leu1045=)
c.2973G>A (p.Leu991=)
c.3168G>A (p.Leu1056=)
c.402G>A (p.Leu134=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216484A=CA2428539742CACNA1Fc.3134T= (p.Leu1045=)
c.2972T= (p.Leu991=)
c.3167T= (p.Leu1056=)
c.401T= (p.Leu134=)
Xg.49216484A>CCA412964074CACNA1Fc.3134T>G (p.Leu1045Arg)
c.2972T>G (p.Leu991Arg)
c.3167T>G (p.Leu1056Arg)
c.401T>G (p.Leu134Arg)
Xg.49216484A>GCA412964075CACNA1Fc.3134T>C (p.Leu1045Pro)
c.2972T>C (p.Leu991Pro)
c.3167T>C (p.Leu1056Pro)
c.401T>C (p.Leu134Pro)
Xg.49216484A>TCA412964076CACNA1Fc.3134T>A (p.Leu1045Gln)
c.2972T>A (p.Leu991Gln)
c.3167T>A (p.Leu1056Gln)
c.401T>A (p.Leu134Gln)
Xg.49216485G>ACA516377334CACNA1Fc.3133C>T (p.Leu1045=)
c.2971C>T (p.Leu991=)
c.3166C>T (p.Leu1056=)
c.400C>T (p.Leu134=)
Xg.49216485G>CCA10410525CACNA1Fc.3133C>G (p.Leu1045Val)
c.2971C>G (p.Leu991Val)
c.3166C>G (p.Leu1056Val)
c.400C>G (p.Leu134Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216485G=CA2428539743CACNA1Fc.3133C= (p.Leu1045=)
c.2971C= (p.Leu991=)
c.3166C= (p.Leu1056=)
c.400C= (p.Leu134=)
Xg.49216485G>TCA412964077CACNA1Fc.3133C>A (p.Leu1045Met)
c.2971C>A (p.Leu991Met)
c.3166C>A (p.Leu1056Met)
c.400C>A (p.Leu134Met)
Xg.49216488dupCA342081CACNA1Fc.3133dup (p.Leu1045ProfsTer11)
c.2971dup (p.Leu991ProfsTer11)
c.3166dup (p.Leu1056ProfsTer11)
c.400dup (p.Leu134ProfsTer11)
 ClinVar dbSNP gnomAD v4
Xg.49216488delCA2579607588CACNA1Fc.3133del (p.Leu1045TrpfsTer21)
c.2971del (p.Leu991TrpfsTer21)
c.3166del (p.Leu1056TrpfsTer21)
c.400del (p.Leu134TrpfsTer21)
Xg.49216486G>ACA516377335CACNA1Fc.3132C>T (p.Pro1044=)
c.2970C>T (p.Pro990=)
c.3165C>T (p.Pro1055=)
c.399C>T (p.Pro133=)
 gnomAD v4
Xg.49216486G>CCA516377336CACNA1Fc.3132C>G (p.Pro1044=)
c.2970C>G (p.Pro990=)
c.3165C>G (p.Pro1055=)
c.399C>G (p.Pro133=)
Xg.49216486G>TCA516377337CACNA1Fc.3132C>A (p.Pro1044=)
c.2970C>A (p.Pro990=)
c.3165C>A (p.Pro1055=)
c.399C>A (p.Pro133=)
Xg.49216487G>ACA412964078CACNA1Fc.3131C>T (p.Pro1044Leu)
c.2969C>T (p.Pro990Leu)
c.3164C>T (p.Pro1055Leu)
c.398C>T (p.Pro133Leu)
Xg.49216487G>CCA412964079CACNA1Fc.3131C>G (p.Pro1044Arg)
c.2969C>G (p.Pro990Arg)
c.3164C>G (p.Pro1055Arg)
c.398C>G (p.Pro133Arg)
Xg.49216487G>TCA412964080CACNA1Fc.3131C>A (p.Pro1044His)
c.2969C>A (p.Pro990His)
c.3164C>A (p.Pro1055His)
c.398C>A (p.Pro133His)
Xg.49216488G>ACA412964081CACNA1Fc.3130C>T (p.Pro1044Ser)
c.2968C>T (p.Pro990Ser)
c.3163C>T (p.Pro1055Ser)
c.397C>T (p.Pro133Ser)
Xg.49216488G>CCA412964082CACNA1Fc.3130C>G (p.Pro1044Ala)
c.2968C>G (p.Pro990Ala)
c.3163C>G (p.Pro1055Ala)
c.397C>G (p.Pro133Ala)
 gnomAD v4
Xg.49216488G>TCA412964083CACNA1Fc.3130C>A (p.Pro1044Thr)
c.2968C>A (p.Pro990Thr)
c.3163C>A (p.Pro1055Thr)
c.397C>A (p.Pro133Thr)
Xg.49216489C>ACA516377338CACNA1Fc.3129G>T (p.Arg1043=)
c.2967G>T (p.Arg989=)
c.3162G>T (p.Arg1054=)
c.396G>T (p.Arg132=)
Xg.49216489C>GCA516377339CACNA1Fc.3129G>C (p.Arg1043=)
c.2967G>C (p.Arg989=)
c.3162G>C (p.Arg1054=)
c.396G>C (p.Arg132=)
Xg.49216489C>TCA516377340CACNA1Fc.3129G>A (p.Arg1043=)
c.2967G>A (p.Arg989=)
c.3162G>A (p.Arg1054=)
c.396G>A (p.Arg132=)
Xg.49216490C>ACA412964084CACNA1Fc.3128G>T (p.Arg1043Leu)
c.2966G>T (p.Arg989Leu)
c.3161G>T (p.Arg1054Leu)
c.395G>T (p.Arg132Leu)
Xg.49216490C=CA2428539744CACNA1Fc.3128G= (p.Arg1043=)
c.2966G= (p.Arg989=)
c.3161G= (p.Arg1054=)
c.395G= (p.Arg132=)
Xg.49216490C>GCA412964085CACNA1Fc.3128G>C (p.Arg1043Pro)
c.2966G>C (p.Arg989Pro)
c.3161G>C (p.Arg1054Pro)
c.395G>C (p.Arg132Pro)
Xg.49216490C>TCA329140263CACNA1Fc.3128G>A (p.Arg1043Gln)
c.2966G>A (p.Arg989Gln)
c.3161G>A (p.Arg1054Gln)
c.395G>A (p.Arg132Gln)
 dbSNP gnomAD v2
Xg.49216491G>ACA412964086CACNA1Fc.3127C>T (p.Arg1043Trp)
c.2965C>T (p.Arg989Trp)
c.3160C>T (p.Arg1054Trp)
c.394C>T (p.Arg132Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.49216491G>CCA412964087CACNA1Fc.3127C>G (p.Arg1043Gly)
c.2965C>G (p.Arg989Gly)
c.3160C>G (p.Arg1054Gly)
c.394C>G (p.Arg132Gly)
Xg.49216491G=CA2428539745CACNA1Fc.3127C= (p.Arg1043=)
c.2965C= (p.Arg989=)
c.3160C= (p.Arg1054=)
c.394C= (p.Arg132=)
Xg.49216491G>TCA516377341CACNA1Fc.3127C>A (p.Arg1043=)
c.2965C>A (p.Arg989=)
c.3160C>A (p.Arg1054=)
c.394C>A (p.Arg132=)
Xg.49216492T>ACA516377342CACNA1Fc.3126A>T (p.Ser1042=)
c.2964A>T (p.Ser988=)
c.3159A>T (p.Ser1053=)
c.393A>T (p.Ser131=)
Xg.49216492T>CCA516377343CACNA1Fc.3126A>G (p.Ser1042=)
c.2964A>G (p.Ser988=)
c.3159A>G (p.Ser1053=)
c.393A>G (p.Ser131=)
Xg.49216492T>GCA516377344CACNA1Fc.3126A>C (p.Ser1042=)
c.2964A>C (p.Ser988=)
c.3159A>C (p.Ser1053=)
c.393A>C (p.Ser131=)
Xg.49216493G>ACA412964088CACNA1Fc.3125C>T (p.Ser1042Leu)
c.2963C>T (p.Ser988Leu)
c.3158C>T (p.Ser1053Leu)
c.392C>T (p.Ser131Leu)
Xg.49216493G>CCA412964089CACNA1Fc.3125C>G (p.Ser1042Ter)
c.2963C>G (p.Ser988Ter)
c.3158C>G (p.Ser1053Ter)
c.392C>G (p.Ser131Ter)
Xg.49216493G>TCA412964090CACNA1Fc.3125C>A (p.Ser1042Ter)
c.2963C>A (p.Ser988Ter)
c.3158C>A (p.Ser1053Ter)
c.392C>A (p.Ser131Ter)
Xg.49216494A>CCA412964091CACNA1Fc.3124T>G (p.Ser1042Ala)
c.2962T>G (p.Ser988Ala)
c.3157T>G (p.Ser1053Ala)
c.391T>G (p.Ser131Ala)
Xg.49216494A>GCA412964092CACNA1Fc.3124T>C (p.Ser1042Pro)
c.2962T>C (p.Ser988Pro)
c.3157T>C (p.Ser1053Pro)
c.391T>C (p.Ser131Pro)
Xg.49216494A>TCA412964093CACNA1Fc.3124T>A (p.Ser1042Thr)
c.2962T>A (p.Ser988Thr)
c.3157T>A (p.Ser1053Thr)
c.391T>A (p.Ser131Thr)
Xg.49216495C>ACA516377345CACNA1Fc.3123G>T (p.Val1041=)
c.2961G>T (p.Val987=)
c.3156G>T (p.Val1052=)
c.390G>T (p.Val130=)
Xg.49216495C>GCA516377346CACNA1Fc.3123G>C (p.Val1041=)
c.2961G>C (p.Val987=)
c.3156G>C (p.Val1052=)
c.390G>C (p.Val130=)
Xg.49216495C>TCA516377347CACNA1Fc.3123G>A (p.Val1041=)
c.2961G>A (p.Val987=)
c.3156G>A (p.Val1052=)
c.390G>A (p.Val130=)
Xg.49216496A>CCA412964094CACNA1Fc.3122T>G (p.Val1041Gly)
c.2960T>G (p.Val987Gly)
c.3155T>G (p.Val1052Gly)
c.389T>G (p.Val130Gly)
Xg.49216496A>GCA412964095CACNA1Fc.3122T>C (p.Val1041Ala)
c.2960T>C (p.Val987Ala)
c.3155T>C (p.Val1052Ala)
c.389T>C (p.Val130Ala)
Xg.49216496A>TCA412964096CACNA1Fc.3122T>A (p.Val1041Glu)
c.2960T>A (p.Val987Glu)
c.3155T>A (p.Val1052Glu)
c.389T>A (p.Val130Glu)
Xg.49216497C>ACA412964097CACNA1Fc.3121G>T (p.Val1041Leu)
c.2959G>T (p.Val987Leu)
c.3154G>T (p.Val1052Leu)
c.388G>T (p.Val130Leu)
Xg.49216497C=CA2428539746CACNA1Fc.3121G= (p.Val1041=)
c.2959G= (p.Val987=)
c.3154G= (p.Val1052=)
c.388G= (p.Val130=)
Xg.49216497C>GCA412964098CACNA1Fc.3121G>C (p.Val1041Leu)
c.2959G>C (p.Val987Leu)
c.3154G>C (p.Val1052Leu)
c.388G>C (p.Val130Leu)
Xg.49216497C>TCA412964099CACNA1Fc.3121G>A (p.Val1041Met)
c.2959G>A (p.Val987Met)
c.3154G>A (p.Val1052Met)
c.388G>A (p.Val130Met)
 dbSNP gnomAD v4
Xg.49216498G>ACA10410526CACNA1Fc.3120C>T (p.Asp1040=)
c.2958C>T (p.Asp986=)
c.3153C>T (p.Asp1051=)
c.387C>T (p.Asp129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216498G>CCA412964100CACNA1Fc.3120C>G (p.Asp1040Glu)
c.2958C>G (p.Asp986Glu)
c.3153C>G (p.Asp1051Glu)
c.387C>G (p.Asp129Glu)
 dbSNP gnomAD v4
Xg.49216498G=CA2428539747CACNA1Fc.3120C= (p.Asp1040=)
c.2958C= (p.Asp986=)
c.3153C= (p.Asp1051=)
c.387C= (p.Asp129=)
Xg.49216498G>TCA412964101CACNA1Fc.3120C>A (p.Asp1040Glu)
c.2958C>A (p.Asp986Glu)
c.3153C>A (p.Asp1051Glu)
c.387C>A (p.Asp129Glu)
 gnomAD v4
Xg.49216499T>ACA412964102CACNA1Fc.3119A>T (p.Asp1040Val)
c.2957A>T (p.Asp986Val)
c.3152A>T (p.Asp1051Val)
c.386A>T (p.Asp129Val)
Xg.49216499T>CCA412964103CACNA1Fc.3119A>G (p.Asp1040Gly)
c.2957A>G (p.Asp986Gly)
c.3152A>G (p.Asp1051Gly)
c.386A>G (p.Asp129Gly)
 gnomAD v4
Xg.49216499T>GCA412964104CACNA1Fc.3119A>C (p.Asp1040Ala)
c.2957A>C (p.Asp986Ala)
c.3152A>C (p.Asp1051Ala)
c.386A>C (p.Asp129Ala)
Xg.49216500C>ACA412964105CACNA1Fc.3118G>T (p.Asp1040Tyr)
c.2956G>T (p.Asp986Tyr)
c.3151G>T (p.Asp1051Tyr)
c.385G>T (p.Asp129Tyr)
Xg.49216500C>GCA412964106CACNA1Fc.3118G>C (p.Asp1040His)
c.2956G>C (p.Asp986His)
c.3151G>C (p.Asp1051His)
c.385G>C (p.Asp129His)
Xg.49216500C>TCA412964107CACNA1Fc.3118G>A (p.Asp1040Asn)
c.2956G>A (p.Asp986Asn)
c.3151G>A (p.Asp1051Asn)
c.385G>A (p.Asp129Asn)
Xg.49216501T>ACA516377348CACNA1Fc.3117A>T (p.Gly1039=)
c.2955A>T (p.Gly985=)
c.3150A>T (p.Gly1050=)
c.384A>T (p.Gly128=)
Xg.49216501T>CCA516377349CACNA1Fc.3117A>G (p.Gly1039=)
c.2955A>G (p.Gly985=)
c.3150A>G (p.Gly1050=)
c.384A>G (p.Gly128=)
Xg.49216501T>GCA516377350CACNA1Fc.3117A>C (p.Gly1039=)
c.2955A>C (p.Gly985=)
c.3150A>C (p.Gly1050=)
c.384A>C (p.Gly128=)
Xg.49216502C>ACA412964108CACNA1Fc.3116G>T (p.Gly1039Val)
c.2954G>T (p.Gly985Val)
c.3149G>T (p.Gly1050Val)
c.383G>T (p.Gly128Val)
 gnomAD v4
Xg.49216502C>GCA412964109CACNA1Fc.3116G>C (p.Gly1039Ala)
c.2954G>C (p.Gly985Ala)
c.3149G>C (p.Gly1050Ala)
c.383G>C (p.Gly128Ala)
Xg.49216502C>TCA412964110CACNA1Fc.3116G>A (p.Gly1039Glu)
c.2954G>A (p.Gly985Glu)
c.3149G>A (p.Gly1050Glu)
c.383G>A (p.Gly128Glu)
 COSMIC
Xg.49216503C>ACA412964111CACNA1Fc.3115G>T (p.Gly1039Ter)
c.2953G>T (p.Gly985Ter)
c.3148G>T (p.Gly1050Ter)
c.382G>T (p.Gly128Ter)
Xg.49216503C>GCA412964112CACNA1Fc.3115G>C (p.Gly1039Arg)
c.2953G>C (p.Gly985Arg)
c.3148G>C (p.Gly1050Arg)
c.382G>C (p.Gly128Arg)
Xg.49216503C>TCA412964113CACNA1Fc.3115G>A (p.Gly1039Arg)
c.2953G>A (p.Gly985Arg)
c.3148G>A (p.Gly1050Arg)
c.382G>A (p.Gly128Arg)
Xg.49216504A=CA2428539748CACNA1Fc.3114T= (p.Asp1038=)
c.2952T= (p.Asp984=)
c.3147T= (p.Asp1049=)
c.381T= (p.Asp127=)
Xg.49216504A>CCA412964114CACNA1Fc.3114T>G (p.Asp1038Glu)
c.2952T>G (p.Asp984Glu)
c.3147T>G (p.Asp1049Glu)
c.381T>G (p.Asp127Glu)
 gnomAD v4
Xg.49216504A>GCA516377351CACNA1Fc.3114T>C (p.Asp1038=)
c.2952T>C (p.Asp984=)
c.3147T>C (p.Asp1049=)
c.381T>C (p.Asp127=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216504A>TCA412964115CACNA1Fc.3114T>A (p.Asp1038Glu)
c.2952T>A (p.Asp984Glu)
c.3147T>A (p.Asp1049Glu)
c.381T>A (p.Asp127Glu)
Xg.49216505T>ACA412964116CACNA1Fc.3113A>T (p.Asp1038Val)
c.2951A>T (p.Asp984Val)
c.3146A>T (p.Asp1049Val)
c.380A>T (p.Asp127Val)
Xg.49216505T>CCA412964117CACNA1Fc.3113A>G (p.Asp1038Gly)
c.2951A>G (p.Asp984Gly)
c.3146A>G (p.Asp1049Gly)
c.380A>G (p.Asp127Gly)
Xg.49216505T>GCA412964118CACNA1Fc.3113A>C (p.Asp1038Ala)
c.2951A>C (p.Asp984Ala)
c.3146A>C (p.Asp1049Ala)
c.380A>C (p.Asp127Ala)
Xg.49216506C>ACA412964119CACNA1Fc.3112G>T (p.Asp1038Tyr)
c.2950G>T (p.Asp984Tyr)
c.3145G>T (p.Asp1049Tyr)
c.379G>T (p.Asp127Tyr)
 gnomAD v4
Xg.49216506C>GCA412964120CACNA1Fc.3112G>C (p.Asp1038His)
c.2950G>C (p.Asp984His)
c.3145G>C (p.Asp1049His)
c.379G>C (p.Asp127His)
Xg.49216506C>TCA412964121CACNA1Fc.3112G>A (p.Asp1038Asn)
c.2950G>A (p.Asp984Asn)
c.3145G>A (p.Asp1049Asn)
c.379G>A (p.Asp127Asn)
Xg.49216507T>ACA516377353CACNA1Fc.3111A>T (p.Pro1037=)
c.2949A>T (p.Pro983=)
c.3144A>T (p.Pro1048=)
c.378A>T (p.Pro126=)
Xg.49216507T>CCA516377354CACNA1Fc.3111A>G (p.Pro1037=)
c.2949A>G (p.Pro983=)
c.3144A>G (p.Pro1048=)
c.378A>G (p.Pro126=)
Xg.49216507T>GCA516377352CACNA1Fc.3111A>C (p.Pro1037=)
c.2949A>C (p.Pro983=)
c.3144A>C (p.Pro1048=)
c.378A>C (p.Pro126=)
Xg.49216508G>ACA412964124CACNA1Fc.3110C>T (p.Pro1037Leu)
c.2948C>T (p.Pro983Leu)
c.3143C>T (p.Pro1048Leu)
c.377C>T (p.Pro126Leu)
Xg.49216508G>CCA412964122CACNA1Fc.3110C>G (p.Pro1037Arg)
c.2948C>G (p.Pro983Arg)
c.3143C>G (p.Pro1048Arg)
c.377C>G (p.Pro126Arg)
Xg.49216508G>TCA412964123CACNA1Fc.3110C>A (p.Pro1037Gln)
c.2948C>A (p.Pro983Gln)
c.3143C>A (p.Pro1048Gln)
c.377C>A (p.Pro126Gln)
Xg.49216509G>ACA412964125CACNA1Fc.3109C>T (p.Pro1037Ser)
c.2947C>T (p.Pro983Ser)
c.3142C>T (p.Pro1048Ser)
c.376C>T (p.Pro126Ser)
Xg.49216509G>CCA412964126CACNA1Fc.3109C>G (p.Pro1037Ala)
c.2947C>G (p.Pro983Ala)
c.3142C>G (p.Pro1048Ala)
c.376C>G (p.Pro126Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216509G=CA2428539749CACNA1Fc.3109C= (p.Pro1037=)
c.2947C= (p.Pro983=)
c.3142C= (p.Pro1048=)
c.376C= (p.Pro126=)
Xg.49216509G>TCA412964127CACNA1Fc.3109C>A (p.Pro1037Thr)
c.2947C>A (p.Pro983Thr)
c.3142C>A (p.Pro1048Thr)
c.376C>A (p.Pro126Thr)
 gnomAD v4
Xg.49216510G>ACA516377355CACNA1Fc.3108C>T (p.Tyr1036=)
c.2946C>T (p.Tyr982=)
c.3141C>T (p.Tyr1047=)
c.375C>T (p.Tyr125=)
Xg.49216510G>CCA412964128CACNA1Fc.3108C>G (p.Tyr1036Ter)
c.2946C>G (p.Tyr982Ter)
c.3141C>G (p.Tyr1047Ter)
c.375C>G (p.Tyr125Ter)
 gnomAD v4
Xg.49216510G>TCA412964129CACNA1Fc.3108C>A (p.Tyr1036Ter)
c.2946C>A (p.Tyr982Ter)
c.3141C>A (p.Tyr1047Ter)
c.375C>A (p.Tyr125Ter)
 gnomAD v4
Xg.49216511T>ACA412964130CACNA1Fc.3107A>T (p.Tyr1036Phe)
c.2945A>T (p.Tyr982Phe)
c.3140A>T (p.Tyr1047Phe)
c.374A>T (p.Tyr125Phe)
Xg.49216511T>CCA412964132CACNA1Fc.3107A>G (p.Tyr1036Cys)
c.2945A>G (p.Tyr982Cys)
c.3140A>G (p.Tyr1047Cys)
c.374A>G (p.Tyr125Cys)
Xg.49216511T>GCA412964131CACNA1Fc.3107A>C (p.Tyr1036Ser)
c.2945A>C (p.Tyr982Ser)
c.3140A>C (p.Tyr1047Ser)
c.374A>C (p.Tyr125Ser)
Xg.49216512A=CA2428539750CACNA1Fc.3106T= (p.Tyr1036=)
c.2944T= (p.Tyr982=)
c.3139T= (p.Tyr1047=)
c.373T= (p.Tyr125=)
Xg.49216512A>CCA412964133CACNA1Fc.3106T>G (p.Tyr1036Asp)
c.2944T>G (p.Tyr982Asp)
c.3139T>G (p.Tyr1047Asp)
c.373T>G (p.Tyr125Asp)
Xg.49216512A>GCA412964134CACNA1Fc.3106T>C (p.Tyr1036His)
c.2944T>C (p.Tyr982His)
c.3139T>C (p.Tyr1047His)
c.373T>C (p.Tyr125His)
 dbSNP gnomAD v2 gnomAD v4
Xg.49216512A>TCA412964135CACNA1Fc.3106T>A (p.Tyr1036Asn)
c.2944T>A (p.Tyr982Asn)
c.3139T>A (p.Tyr1047Asn)
c.373T>A (p.Tyr125Asn)
Xg.49216513T>ACA516377356CACNA1Fc.3105A>T (p.Val1035=)
c.2943A>T (p.Val981=)
c.3138A>T (p.Val1046=)
c.372A>T (p.Val124=)
Xg.49216513T>CCA10410527CACNA1Fc.3105A>G (p.Val1035=)
c.2943A>G (p.Val981=)
c.3138A>G (p.Val1046=)
c.372A>G (p.Val124=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216513T>GCA516377357CACNA1Fc.3105A>C (p.Val1035=)
c.2943A>C (p.Val981=)
c.3138A>C (p.Val1046=)
c.372A>C (p.Val124=)
Xg.49216513T=CA2428539751CACNA1Fc.3105A= (p.Val1035=)
c.2943A= (p.Val981=)
c.3138A= (p.Val1046=)
c.372A= (p.Val124=)
Xg.49216514A>CCA412964136CACNA1Fc.3104T>G (p.Val1035Gly)
c.2942T>G (p.Val981Gly)
c.3137T>G (p.Val1046Gly)
c.371T>G (p.Val124Gly)
Xg.49216514A>GCA412964137CACNA1Fc.3104T>C (p.Val1035Ala)
c.2942T>C (p.Val981Ala)
c.3137T>C (p.Val1046Ala)
c.371T>C (p.Val124Ala)
Xg.49216514A>TCA412964138CACNA1Fc.3104T>A (p.Val1035Glu)
c.2942T>A (p.Val981Glu)
c.3137T>A (p.Val1046Glu)
c.371T>A (p.Val124Glu)
Xg.49216515C>ACA412964139CACNA1Fc.3103G>T (p.Val1035Leu)
c.2941G>T (p.Val981Leu)
c.3136G>T (p.Val1046Leu)
c.370G>T (p.Val124Leu)
 ClinVar gnomAD v4
Xg.49216515C=CA2428539752CACNA1Fc.3103G= (p.Val1035=)
c.2941G= (p.Val981=)
c.3136G= (p.Val1046=)
c.370G= (p.Val124=)
Xg.49216515C>GCA412964140CACNA1Fc.3103G>C (p.Val1035Leu)
c.2941G>C (p.Val981Leu)
c.3136G>C (p.Val1046Leu)
c.370G>C (p.Val124Leu)
Xg.49216515C>TCA412964141CACNA1Fc.3103G>A (p.Val1035Ile)
c.2941G>A (p.Val981Ile)
c.3136G>A (p.Val1046Ile)
c.370G>A (p.Val124Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216516C>ACA516377358CACNA1Fc.3102G>T (p.Leu1034=)
c.2940G>T (p.Leu980=)
c.3135G>T (p.Leu1045=)
c.369G>T (p.Leu123=)
Xg.49216516C=CA2428539753CACNA1Fc.3102G= (p.Leu1034=)
c.2940G= (p.Leu980=)
c.3135G= (p.Leu1045=)
c.369G= (p.Leu123=)
Xg.49216516C>GCA516377359CACNA1Fc.3102G>C (p.Leu1034=)
c.2940G>C (p.Leu980=)
c.3135G>C (p.Leu1045=)
c.369G>C (p.Leu123=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216516C>TCA516377360CACNA1Fc.3102G>A (p.Leu1034=)
c.2940G>A (p.Leu980=)
c.3135G>A (p.Leu1045=)
c.369G>A (p.Leu123=)
Xg.49216517A>CCA412964144CACNA1Fc.3101T>G (p.Leu1034Arg)
c.2939T>G (p.Leu980Arg)
c.3134T>G (p.Leu1045Arg)
c.368T>G (p.Leu123Arg)
Xg.49216517A>GCA412964143CACNA1Fc.3101T>C (p.Leu1034Pro)
c.2939T>C (p.Leu980Pro)
c.3134T>C (p.Leu1045Pro)
c.368T>C (p.Leu123Pro)
Xg.49216517A>TCA412964142CACNA1Fc.3101T>A (p.Leu1034Gln)
c.2939T>A (p.Leu980Gln)
c.3134T>A (p.Leu1045Gln)
c.368T>A (p.Leu123Gln)
Xg.49216518G>ACA516377361CACNA1Fc.3100C>T (p.Leu1034=)
c.2938C>T (p.Leu980=)
c.3133C>T (p.Leu1045=)
c.367C>T (p.Leu123=)
Xg.49216518G>CCA412964145CACNA1Fc.3100C>G (p.Leu1034Val)
c.2938C>G (p.Leu980Val)
c.3133C>G (p.Leu1045Val)
c.367C>G (p.Leu123Val)
Xg.49216518G=CA2428539754CACNA1Fc.3100C= (p.Leu1034=)
c.2938C= (p.Leu980=)
c.3133C= (p.Leu1045=)
c.367C= (p.Leu123=)
Xg.49216518G>TCA412964146CACNA1Fc.3100C>A (p.Leu1034Met)
c.2938C>A (p.Leu980Met)
c.3133C>A (p.Leu1045Met)
c.367C>A (p.Leu123Met)
 dbSNP gnomAD v2 gnomAD v4
Xg.49216519G>ACA516377362CACNA1Fc.3099C>T (p.Phe1033=)
c.2937C>T (p.Phe979=)
c.3132C>T (p.Phe1044=)
c.366C>T (p.Phe122=)
 dbSNP
Xg.49216519G>CCA412964147CACNA1Fc.3099C>G (p.Phe1033Leu)
c.2937C>G (p.Phe979Leu)
c.3132C>G (p.Phe1044Leu)
c.366C>G (p.Phe122Leu)
Xg.49216519G=CA2428539755CACNA1Fc.3099C= (p.Phe1033=)
c.2937C= (p.Phe979=)
c.3132C= (p.Phe1044=)
c.366C= (p.Phe122=)
Xg.49216519G>TCA412964148CACNA1Fc.3099C>A (p.Phe1033Leu)
c.2937C>A (p.Phe979Leu)
c.3132C>A (p.Phe1044Leu)
c.366C>A (p.Phe122Leu)
Xg.49216520A>CCA412964149CACNA1Fc.3098T>G (p.Phe1033Cys)
c.2936T>G (p.Phe979Cys)
c.3131T>G (p.Phe1044Cys)
c.365T>G (p.Phe122Cys)
Xg.49216520A>GCA412964151CACNA1Fc.3098T>C (p.Phe1033Ser)
c.2936T>C (p.Phe979Ser)
c.3131T>C (p.Phe1044Ser)
c.365T>C (p.Phe122Ser)
Xg.49216520A>TCA412964150CACNA1Fc.3098T>A (p.Phe1033Tyr)
c.2936T>A (p.Phe979Tyr)
c.3131T>A (p.Phe1044Tyr)
c.365T>A (p.Phe122Tyr)
Xg.49216521delCA2579607589CACNA1Fc.3098del (p.Phe1033SerfsTer?)
c.2936del (p.Phe979SerfsTer?)
c.3131del (p.Phe1044SerfsTer?)
c.365del (p.Phe122SerfsTer?)
Xg.49216521A>CCA412964152CACNA1Fc.3097T>G (p.Phe1033Val)
c.2935T>G (p.Phe979Val)
c.3130T>G (p.Phe1044Val)
c.364T>G (p.Phe122Val)
Xg.49216521A>GCA412964153CACNA1Fc.3097T>C (p.Phe1033Leu)
c.2935T>C (p.Phe979Leu)
c.3130T>C (p.Phe1044Leu)
c.364T>C (p.Phe122Leu)
Xg.49216521A>TCA412964154CACNA1Fc.3097T>A (p.Phe1033Ile)
c.2935T>A (p.Phe979Ile)
c.3130T>A (p.Phe1044Ile)
c.364T>A (p.Phe122Ile)
Xg.49216522G>ACA516377365CACNA1Fc.3096C>T (p.Ser1032=)
c.2934C>T (p.Ser978=)
c.3129C>T (p.Ser1043=)
c.363C>T (p.Ser121=)
Xg.49216522G>CCA516377364CACNA1Fc.3096C>G (p.Ser1032=)
c.2934C>G (p.Ser978=)
c.3129C>G (p.Ser1043=)
c.363C>G (p.Ser121=)
Xg.49216522G>TCA516377363CACNA1Fc.3096C>A (p.Ser1032=)
c.2934C>A (p.Ser978=)
c.3129C>A (p.Ser1043=)
c.363C>A (p.Ser121=)
Xg.49216523delCA2820835119CACNA1Fc.3096del (p.Phe1033SerfsTer?)
c.2934del (p.Phe979SerfsTer?)
c.3129del (p.Phe1044SerfsTer?)
c.363del (p.Phe122SerfsTer?)
Xg.49216523G>ACA412964155CACNA1Fc.3095C>T (p.Ser1032Phe)
c.2933C>T (p.Ser978Phe)
c.3128C>T (p.Ser1043Phe)
c.362C>T (p.Ser121Phe)
Xg.49216523G>CCA412964156CACNA1Fc.3095C>G (p.Ser1032Cys)
c.2933C>G (p.Ser978Cys)
c.3128C>G (p.Ser1043Cys)
c.362C>G (p.Ser121Cys)
Xg.49216523G>TCA412964157CACNA1Fc.3095C>A (p.Ser1032Tyr)
c.2933C>A (p.Ser978Tyr)
c.3128C>A (p.Ser1043Tyr)
c.362C>A (p.Ser121Tyr)
 gnomAD v4
Xg.49216524A>CCA412964158CACNA1Fc.3094T>G (p.Ser1032Ala)
c.2932T>G (p.Ser978Ala)
c.3127T>G (p.Ser1043Ala)
c.361T>G (p.Ser121Ala)
Xg.49216524A>GCA412964159CACNA1Fc.3094T>C (p.Ser1032Pro)
c.2932T>C (p.Ser978Pro)
c.3127T>C (p.Ser1043Pro)
c.361T>C (p.Ser121Pro)
Xg.49216524A>TCA412964160CACNA1Fc.3094T>A (p.Ser1032Thr)
c.2932T>A (p.Ser978Thr)
c.3127T>A (p.Ser1043Thr)
c.361T>A (p.Ser121Thr)
 gnomAD v4
Xg.49216525G>ACA516377366CACNA1Fc.3093C>T (p.Gly1031=)
c.2931C>T (p.Gly977=)
c.3126C>T (p.Gly1042=)
c.360C>T (p.Gly120=)
Xg.49216525G>CCA516377367CACNA1Fc.3093C>G (p.Gly1031=)
c.2931C>G (p.Gly977=)
c.3126C>G (p.Gly1042=)
c.360C>G (p.Gly120=)
Xg.49216525G>TCA516377368CACNA1Fc.3093C>A (p.Gly1031=)
c.2931C>A (p.Gly977=)
c.3126C>A (p.Gly1042=)
c.360C>A (p.Gly120=)
Xg.49216525_49216527delCA2820835123CACNA1Fc.3091_3093del (p.Gly1031del)
c.2929_2931del (p.Gly977del)
c.3124_3126del (p.Gly1042del)
c.358_360del (p.Gly120del)
Xg.49216526C>ACA412964161CACNA1Fc.3092G>T (p.Gly1031Val)
c.2930G>T (p.Gly977Val)
c.3125G>T (p.Gly1042Val)
c.359G>T (p.Gly120Val)
Xg.49216526C=CA2428539756CACNA1Fc.3092G= (p.Gly1031=)
c.2930G= (p.Gly977=)
c.3125G= (p.Gly1042=)
c.359G= (p.Gly120=)
Xg.49216526C>GCA412964162CACNA1Fc.3092G>C (p.Gly1031Ala)
c.2930G>C (p.Gly977Ala)
c.3125G>C (p.Gly1042Ala)
c.359G>C (p.Gly120Ala)
Xg.49216526C>TCA412964163CACNA1Fc.3092G>A (p.Gly1031Asp)
c.2930G>A (p.Gly977Asp)
c.3125G>A (p.Gly1042Asp)
c.359G>A (p.Gly120Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216529delCA2695233570CACNA1Fc.3092del
c.2930del
c.3125del
c.359del
Xg.49216527C>ACA412964166CACNA1Fc.3091G>T (p.Gly1031Cys)
c.2929G>T (p.Gly977Cys)
c.3124G>T (p.Gly1042Cys)
c.358G>T (p.Gly120Cys)
Xg.49216527C=CA2428539757CACNA1Fc.3091G= (p.Gly1031=)
c.2929G= (p.Gly977=)
c.3124G= (p.Gly1042=)
c.358G= (p.Gly120=)
Xg.49216527C>GCA412964164CACNA1Fc.3091G>C (p.Gly1031Arg)
c.2929G>C (p.Gly977Arg)
c.3124G>C (p.Gly1042Arg)
c.358G>C (p.Gly120Arg)
Xg.49216527C>TCA412964165CACNA1Fc.3091G>A (p.Gly1031Ser)
c.2929G>A (p.Gly977Ser)
c.3124G>A (p.Gly1042Ser)
c.358G>A (p.Gly120Ser)
 dbSNP
Xg.49216528C>ACA412964167CACNA1Fc.3090G>T (p.Lys1030Asn)
c.2928G>T (p.Lys976Asn)
c.3123G>T (p.Lys1041Asn)
c.357G>T (p.Lys119Asn)
 gnomAD v4
Xg.49216528C>GCA412964168CACNA1Fc.3090G>C (p.Lys1030Asn)
c.2928G>C (p.Lys976Asn)
c.3123G>C (p.Lys1041Asn)
c.357G>C (p.Lys119Asn)
Xg.49216528C>TCA516377369CACNA1Fc.3090G>A (p.Lys1030=)
c.2928G>A (p.Lys976=)
c.3123G>A (p.Lys1041=)
c.357G>A (p.Lys119=)
 gnomAD v4
Xg.49216529C>ACA412964169CACNA1Fc.3090-1G>T (n.3090-1G>T)
c.2928-1G>T (n.2928-1G>T)
c.3123-1G>T (n.3123-1G>T)
c.357-1G>T (n.357-1G>T)
 gnomAD v4
Xg.49216529C>GCA412964170CACNA1Fc.3090-1G>C (n.3090-1G>C)
c.2928-1G>C (n.2928-1G>C)
c.3123-1G>C (n.3123-1G>C)
c.357-1G>C (n.357-1G>C)
Xg.49216529C>TCA412964171CACNA1Fc.3090-1G>A (n.3090-1G>A)
c.2928-1G>A (n.2928-1G>A)
c.3123-1G>A (n.3123-1G>A)
c.357-1G>A (n.357-1G>A)
Xg.49216529_49216530delinsCTCA2428539758CACNA1Fc.3090-2_3090-1delinsAG (n.3090-2_3090-1delinsAG)
c.2928-2_2928-1delinsAG (n.2928-2_2928-1delinsAG)
c.3123-2_3123-1delinsAG (n.3123-2_3123-1delinsAG)
c.357-2_357-1delinsAG (n.357-2_357-1delinsAG)
Xg.49216529_49216530insACA2531284309CACNA1Fc.3090-2_3090-1insT (n.3090-2_3090-1insT)
c.2928-2_2928-1insT (n.2928-2_2928-1insT)
c.3123-2_3123-1insT (n.3123-2_3123-1insT)
c.357-2_357-1insT (n.357-2_357-1insT)
Xg.49216530delCA875949972CACNA1Fc.3090-2del (n.3090-2del)
c.2928-2del (n.2928-2del)
c.3123-2del (n.3123-2del)
c.357-2del (n.357-2del)
 dbSNP
Xg.49216530T>ACA412964172CACNA1Fc.3090-2A>T (n.3090-2A>T)
c.2928-2A>T (n.2928-2A>T)
c.3123-2A>T (n.3123-2A>T)
c.357-2A>T (n.357-2A>T)
 ClinVar dbSNP
Xg.49216530T>CCA412964173CACNA1Fc.3090-2A>G (n.3090-2A>G)
c.2928-2A>G (n.2928-2A>G)
c.3123-2A>G (n.3123-2A>G)
c.357-2A>G (n.357-2A>G)
Xg.49216530T>GCA412964174CACNA1Fc.3090-2A>C (n.3090-2A>C)
c.2928-2A>C (n.2928-2A>C)
c.3123-2A>C (n.3123-2A>C)
c.357-2A>C (n.357-2A>C)
Xg.49216531G>ACA2820835124CACNA1Fc.3090-3C>T (n.3090-3C>T)
c.2928-3C>T (n.2928-3C>T)
c.3123-3C>T (n.3123-3C>T)
c.357-3C>T (n.357-3C>T)
Xg.49216533G>ACA641531081CACNA1Fc.3090-5C>T (n.3090-5C>T)
c.2928-5C>T (n.2928-5C>T)
c.3123-5C>T (n.3123-5C>T)
c.357-5C>T (n.357-5C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.49216533G=CA2428539759CACNA1Fc.3090-5C= (n.3090-5C=)
c.2928-5C= (n.2928-5C=)
c.3123-5C= (n.3123-5C=)
c.357-5C= (n.357-5C=)
Xg.49216533G>TCA2693706972CACNA1Fc.3090-5C>A (n.3090-5C>A)
c.2928-5C>A (n.2928-5C>A)
c.3123-5C>A (n.3123-5C>A)
c.357-5C>A (n.357-5C>A)
 gnomAD v4
Xg.49216534G>ACA2693706976CACNA1Fc.3090-6C>T (n.3090-6C>T)
c.2928-6C>T (n.2928-6C>T)
c.3123-6C>T (n.3123-6C>T)
c.357-6C>T (n.357-6C>T)
 gnomAD v4
Xg.49216534G>TCA2693706979CACNA1Fc.3090-6C>A (n.3090-6C>A)
c.2928-6C>A (n.2928-6C>A)
c.3123-6C>A (n.3123-6C>A)
c.357-6C>A (n.357-6C>A)
 gnomAD v4
Xg.49216535A=CA2428539760CACNA1Fc.3090-7T= (n.3090-7T=)
c.2928-7T= (n.2928-7T=)
c.3123-7T= (n.3123-7T=)
c.357-7T= (n.357-7T=)
Xg.49216535A>TCA875949975CACNA1Fc.3090-7T>A (n.3090-7T>A)
c.2928-7T>A (n.2928-7T>A)
c.3123-7T>A (n.3123-7T>A)
c.357-7T>A (n.357-7T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216537G>ACA10410528CACNA1Fc.3090-9C>T (n.3090-9C>T)
c.2928-9C>T (n.2928-9C>T)
c.3123-9C>T (n.3123-9C>T)
c.357-9C>T (n.357-9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216537G=CA2428539761CACNA1Fc.3090-9C= (n.3090-9C=)
c.2928-9C= (n.2928-9C=)
c.3123-9C= (n.3123-9C=)
c.357-9C= (n.357-9C=)
Xg.49216539G>ACA2693706990CACNA1Fc.3090-11C>T (n.3090-11C>T)
c.2928-11C>T (n.2928-11C>T)
c.3123-11C>T (n.3123-11C>T)
c.357-11C>T (n.357-11C>T)
 gnomAD v4
Xg.49216539G>CCA329140273CACNA1Fc.3090-11C>G (n.3090-11C>G)
c.2928-11C>G (n.2928-11C>G)
c.3123-11C>G (n.3123-11C>G)
c.357-11C>G (n.357-11C>G)
 ClinVar dbSNP
Xg.49216539G=CA2428539762CACNA1Fc.3090-11C= (n.3090-11C=)
c.2928-11C= (n.2928-11C=)
c.3123-11C= (n.3123-11C=)
c.357-11C= (n.357-11C=)
Xg.49216539G>TCA2693706993CACNA1Fc.3090-11C>A (n.3090-11C>A)
c.2928-11C>A (n.2928-11C>A)
c.3123-11C>A (n.3123-11C>A)
c.357-11C>A (n.357-11C>A)
 gnomAD v4
Xg.49216540C=CA2428539763CACNA1Fc.3090-12G= (n.3090-12G=)
c.2928-12G= (n.2928-12G=)
c.3123-12G= (n.3123-12G=)
c.357-12G= (n.357-12G=)
Xg.49216540C>GCA875949988CACNA1Fc.3090-12G>C (n.3090-12G>C)
c.2928-12G>C (n.2928-12G>C)
c.3123-12G>C (n.3123-12G>C)
c.357-12G>C (n.357-12G>C)
 dbSNP
Xg.49216543dupCA10410529CACNA1Fc.3090-13dup (n.3090-13dup)
c.2928-13dup (n.2928-13dup)
c.3123-13dup (n.3123-13dup)
c.357-13dup (n.357-13dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216543delCA2579607590CACNA1Fc.3090-13del (n.3090-13del)
c.2928-13del (n.2928-13del)
c.3123-13del (n.3123-13del)
c.357-13del (n.357-13del)
Xg.49216543A=CA2428539764CACNA1Fc.3090-15T= (n.3090-15T=)
c.2928-15T= (n.2928-15T=)
c.3123-15T= (n.3123-15T=)
c.357-15T= (n.357-15T=)
Xg.49216543A>GCA10410530CACNA1Fc.3090-15T>C (n.3090-15T>C)
c.2928-15T>C (n.2928-15T>C)
c.3123-15T>C (n.3123-15T>C)
c.357-15T>C (n.357-15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216544C>ACA641531089CACNA1Fc.3090-16G>T (n.3090-16G>T)
c.2928-16G>T (n.2928-16G>T)
c.3123-16G>T (n.3123-16G>T)
c.357-16G>T (n.357-16G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216544C=CA2428539765CACNA1Fc.3090-16G= (n.3090-16G=)
c.2928-16G= (n.2928-16G=)
c.3123-16G= (n.3123-16G=)
c.357-16G= (n.357-16G=)

Number of alleles fetched