Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49217726C>ACA329140694CACNA1Fc.3089+29G>T (n.3089+29G>T)
c.2927+29G>T (n.2927+29G>T)
c.3122+29G>T (n.3122+29G>T)
c.356+29G>T (n.356+29G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217726C=CA2428540158CACNA1Fc.3089+29G= (n.3089+29G=)
c.2927+29G= (n.2927+29G=)
c.3122+29G= (n.3122+29G=)
c.356+29G= (n.356+29G=)
Xg.49217726C>TCA2693707562CACNA1Fc.3089+29G>A (n.3089+29G>A)
c.2927+29G>A (n.2927+29G>A)
c.3122+29G>A (n.3122+29G>A)
c.356+29G>A (n.356+29G>A)
 gnomAD v4
Xg.49217727C=CA2428540159CACNA1Fc.3089+28G= (n.3089+28G=)
c.2927+28G= (n.2927+28G=)
c.3122+28G= (n.3122+28G=)
c.356+28G= (n.356+28G=)
Xg.49217727C>TCA10410539CACNA1Fc.3089+28G>A (n.3089+28G>A)
c.2927+28G>A (n.2927+28G>A)
c.3122+28G>A (n.3122+28G>A)
c.356+28G>A (n.356+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.49217728G>ACA10410540CACNA1Fc.3089+27C>T (n.3089+27C>T)
c.2927+27C>T (n.2927+27C>T)
c.3122+27C>T (n.3122+27C>T)
c.356+27C>T (n.356+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217728G=CA2428540160CACNA1Fc.3089+27C= (n.3089+27C=)
c.2927+27C= (n.2927+27C=)
c.3122+27C= (n.3122+27C=)
c.356+27C= (n.356+27C=)
Xg.49217728G>TCA2693707569CACNA1Fc.3089+27C>A (n.3089+27C>A)
c.2927+27C>A (n.2927+27C>A)
c.3122+27C>A (n.3122+27C>A)
c.356+27C>A (n.356+27C>A)
 gnomAD v4
Xg.49217729T>CCA2693707572CACNA1Fc.3089+26A>G (n.3089+26A>G)
c.2927+26A>G (n.2927+26A>G)
c.3122+26A>G (n.3122+26A>G)
c.356+26A>G (n.356+26A>G)
 gnomAD v4
Xg.49217730G>TCA2693707573CACNA1Fc.3089+25C>A (n.3089+25C>A)
c.2927+25C>A (n.2927+25C>A)
c.3122+25C>A (n.3122+25C>A)
c.356+25C>A (n.356+25C>A)
 gnomAD v4
Xg.49217731G>TCA2693707580CACNA1Fc.3089+24C>A (n.3089+24C>A)
c.2927+24C>A (n.2927+24C>A)
c.3122+24C>A (n.3122+24C>A)
c.356+24C>A (n.356+24C>A)
 gnomAD v4
Xg.49217733C=CA2428540161CACNA1Fc.3089+22G= (n.3089+22G=)
c.2927+22G= (n.2927+22G=)
c.3122+22G= (n.3122+22G=)
c.356+22G= (n.356+22G=)
Xg.49217733C>GCA641531291CACNA1Fc.3089+22G>C (n.3089+22G>C)
c.2927+22G>C (n.2927+22G>C)
c.3122+22G>C (n.3122+22G>C)
c.356+22G>C (n.356+22G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217733C>TCA10410541CACNA1Fc.3089+22G>A (n.3089+22G>A)
c.2927+22G>A (n.2927+22G>A)
c.3122+22G>A (n.3122+22G>A)
c.356+22G>A (n.356+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217734G>ACA10410542CACNA1Fc.3089+21C>T (n.3089+21C>T)
c.2927+21C>T (n.2927+21C>T)
c.3122+21C>T (n.3122+21C>T)
c.356+21C>T (n.356+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217734G>CCA2579607615CACNA1Fc.3089+21C>G (n.3089+21C>G)
c.2927+21C>G (n.2927+21C>G)
c.3122+21C>G (n.3122+21C>G)
c.356+21C>G (n.356+21C>G)
 gnomAD v4
Xg.49217734G=CA2428540162CACNA1Fc.3089+21C= (n.3089+21C=)
c.2927+21C= (n.2927+21C=)
c.3122+21C= (n.3122+21C=)
c.356+21C= (n.356+21C=)
Xg.49217734G>TCA1132974270CACNA1Fc.3089+21C>A (n.3089+21C>A)
c.2927+21C>A (n.2927+21C>A)
c.3122+21C>A (n.3122+21C>A)
c.356+21C>A (n.356+21C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217735G>TCA2579607616CACNA1Fc.3089+20C>A (n.3089+20C>A)
c.2927+20C>A (n.2927+20C>A)
c.3122+20C>A (n.3122+20C>A)
c.356+20C>A (n.356+20C>A)
 gnomAD v4
Xg.49217739G>TCA2693707591CACNA1Fc.3089+16C>A (n.3089+16C>A)
c.2927+16C>A (n.2927+16C>A)
c.3122+16C>A (n.3122+16C>A)
c.356+16C>A (n.356+16C>A)
 gnomAD v4
Xg.49217740G>TCA2693707593CACNA1Fc.3089+15C>A (n.3089+15C>A)
c.2927+15C>A (n.2927+15C>A)
c.3122+15C>A (n.3122+15C>A)
c.356+15C>A (n.356+15C>A)
 gnomAD v4
Xg.49217741T>CCA2738725279CACNA1Fc.3089+14A>G (n.3089+14A>G)
c.2927+14A>G (n.2927+14A>G)
c.3122+14A>G (n.3122+14A>G)
c.356+14A>G (n.356+14A>G)
 dbSNP
Xg.49217741T>GCA2534608758CACNA1Fc.3089+14A>C (n.3089+14A>C)
c.2927+14A>C (n.2927+14A>C)
c.3122+14A>C (n.3122+14A>C)
c.356+14A>C (n.356+14A>C)
Xg.49217742C=CA2428540163CACNA1Fc.3089+13G= (n.3089+13G=)
c.2927+13G= (n.2927+13G=)
c.3122+13G= (n.3122+13G=)
c.356+13G= (n.356+13G=)
Xg.49217742C>GCA641531294CACNA1Fc.3089+13G>C (n.3089+13G>C)
c.2927+13G>C (n.2927+13G>C)
c.3122+13G>C (n.3122+13G>C)
c.356+13G>C (n.356+13G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217745G>ACA2693707595CACNA1Fc.3089+10C>T (n.3089+10C>T)
c.2927+10C>T (n.2927+10C>T)
c.3122+10C>T (n.3122+10C>T)
c.356+10C>T (n.356+10C>T)
 gnomAD v4
Xg.49217745G>CCA875950516CACNA1Fc.3089+10C>G (n.3089+10C>G)
c.2927+10C>G (n.2927+10C>G)
c.3122+10C>G (n.3122+10C>G)
c.356+10C>G (n.356+10C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217745G=CA2428540164CACNA1Fc.3089+10C= (n.3089+10C=)
c.2927+10C= (n.2927+10C=)
c.3122+10C= (n.3122+10C=)
c.356+10C= (n.356+10C=)
Xg.49217745G>TCA2693707596CACNA1Fc.3089+10C>A (n.3089+10C>A)
c.2927+10C>A (n.2927+10C>A)
c.3122+10C>A (n.3122+10C>A)
c.356+10C>A (n.356+10C>A)
 gnomAD v4
Xg.49217747delCA2579607617CACNA1Fc.3089+10del (n.3089+10del)
c.2927+10del (n.2927+10del)
c.3122+10del (n.3122+10del)
c.356+10del (n.356+10del)
Xg.49217747G>CCA2693707597CACNA1Fc.3089+8C>G (n.3089+8C>G)
c.2927+8C>G (n.2927+8C>G)
c.3122+8C>G (n.3122+8C>G)
c.356+8C>G (n.356+8C>G)
 gnomAD v4
Xg.49217747G>TCA2693707600CACNA1Fc.3089+8C>A (n.3089+8C>A)
c.2927+8C>A (n.2927+8C>A)
c.3122+8C>A (n.3122+8C>A)
c.356+8C>A (n.356+8C>A)
 gnomAD v4
Xg.49217748C>TCA2693707601CACNA1Fc.3089+7G>A (n.3089+7G>A)
c.2927+7G>A (n.2927+7G>A)
c.3122+7G>A (n.3122+7G>A)
c.356+7G>A (n.356+7G>A)
 gnomAD v4
Xg.49217750C=CA2428540165CACNA1Fc.3089+5G= (n.3089+5G=)
c.2927+5G= (n.2927+5G=)
c.3122+5G= (n.3122+5G=)
c.356+5G= (n.356+5G=)
Xg.49217750C>TCA2428540166CACNA1Fc.3089+5G>A (n.3089+5G>A)
c.2927+5G>A (n.2927+5G>A)
c.3122+5G>A (n.3122+5G>A)
c.356+5G>A (n.356+5G>A)
 dbSNP
Xg.49217751T>CCA2566477415CACNA1Fc.3089+4A>G (n.3089+4A>G)
c.2927+4A>G (n.2927+4A>G)
c.3122+4A>G (n.3122+4A>G)
c.356+4A>G (n.356+4A>G)
Xg.49217752C=CA2428540167CACNA1Fc.3089+3G= (n.3089+3G=)
c.2927+3G= (n.2927+3G=)
c.3122+3G= (n.3122+3G=)
c.356+3G= (n.356+3G=)
Xg.49217752C>GCA10410543CACNA1Fc.3089+3G>C (n.3089+3G>C)
c.2927+3G>C (n.2927+3G>C)
c.3122+3G>C (n.3122+3G>C)
c.356+3G>C (n.356+3G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217753A>CCA412964175CACNA1Fc.3089+2T>G (n.3089+2T>G)
c.2927+2T>G (n.2927+2T>G)
c.3122+2T>G (n.3122+2T>G)
c.356+2T>G (n.356+2T>G)
Xg.49217753A>GCA412964176CACNA1Fc.3089+2T>C (n.3089+2T>C)
c.2927+2T>C (n.2927+2T>C)
c.3122+2T>C (n.3122+2T>C)
c.356+2T>C (n.356+2T>C)
Xg.49217753A>TCA412964177CACNA1Fc.3089+2T>A (n.3089+2T>A)
c.2927+2T>A (n.2927+2T>A)
c.3122+2T>A (n.3122+2T>A)
c.356+2T>A (n.356+2T>A)
Xg.49217753_49217756delCA2580101090CACNA1Fc.3088_3089+2del
c.2926_2927+2del
c.3121_3122+2del
c.355_356+2del
 ClinVar
Xg.49217754C>ACA412964178CACNA1Fc.3089+1G>T (n.3089+1G>T)
c.2927+1G>T (n.2927+1G>T)
c.3122+1G>T (n.3122+1G>T)
c.356+1G>T (n.356+1G>T)
Xg.49217754C>GCA412964179CACNA1Fc.3089+1G>C (n.3089+1G>C)
c.2927+1G>C (n.2927+1G>C)
c.3122+1G>C (n.3122+1G>C)
c.356+1G>C (n.356+1G>C)
Xg.49217754C>TCA412964180CACNA1Fc.3089+1G>A (n.3089+1G>A)
c.2927+1G>A (n.2927+1G>A)
c.3122+1G>A (n.3122+1G>A)
c.356+1G>A (n.356+1G>A)
 COSMIC
Xg.49217755_49221080delCA916084263CACNA1Fc.2290_3089+1del
c.2128_2927+1del
c.2323_3122+1del
Xg.49217755T>ACA412964181CACNA1Fc.3089A>T (p.Lys1030Met)
c.2927A>T (p.Lys976Met)
c.3122A>T (p.Lys1041Met)
c.356A>T (p.Lys119Met)
Xg.49217755T>CCA412964182CACNA1Fc.3089A>G (p.Lys1030Arg)
c.2927A>G (p.Lys976Arg)
c.3122A>G (p.Lys1041Arg)
c.356A>G (p.Lys119Arg)
Xg.49217755T>GCA412964183CACNA1Fc.3089A>C (p.Lys1030Thr)
c.2927A>C (p.Lys976Thr)
c.3122A>C (p.Lys1041Thr)
c.356A>C (p.Lys119Thr)
Xg.49217756T>ACA412964184CACNA1Fc.3088A>T (p.Lys1030Ter)
c.2926A>T (p.Lys976Ter)
c.3121A>T (p.Lys1041Ter)
c.355A>T (p.Lys119Ter)
Xg.49217756T>CCA412964186CACNA1Fc.3088A>G (p.Lys1030Glu)
c.2926A>G (p.Lys976Glu)
c.3121A>G (p.Lys1041Glu)
c.355A>G (p.Lys119Glu)
Xg.49217756T>GCA412964185CACNA1Fc.3088A>C (p.Lys1030Gln)
c.2926A>C (p.Lys976Gln)
c.3121A>C (p.Lys1041Gln)
c.355A>C (p.Lys119Gln)
Xg.49217757G>ACA516377372CACNA1Fc.3087C>T (p.Cys1029=)
c.2925C>T (p.Cys975=)
c.3120C>T (p.Cys1040=)
c.354C>T (p.Cys118=)
Xg.49217757G>CCA412964187CACNA1Fc.3087C>G (p.Cys1029Trp)
c.2925C>G (p.Cys975Trp)
c.3120C>G (p.Cys1040Trp)
c.354C>G (p.Cys118Trp)
Xg.49217757G>TCA412964188CACNA1Fc.3087C>A (p.Cys1029Ter)
c.2925C>A (p.Cys975Ter)
c.3120C>A (p.Cys1040Ter)
c.354C>A (p.Cys118Ter)
Xg.49217758C>ACA412964189CACNA1Fc.3086G>T (p.Cys1029Phe)
c.2924G>T (p.Cys975Phe)
c.3119G>T (p.Cys1040Phe)
c.353G>T (p.Cys118Phe)
Xg.49217758C>GCA412964190CACNA1Fc.3086G>C (p.Cys1029Ser)
c.2924G>C (p.Cys975Ser)
c.3119G>C (p.Cys1040Ser)
c.353G>C (p.Cys118Ser)
Xg.49217758C>TCA412964191CACNA1Fc.3086G>A (p.Cys1029Tyr)
c.2924G>A (p.Cys975Tyr)
c.3119G>A (p.Cys1040Tyr)
c.353G>A (p.Cys118Tyr)
Xg.49217759A=CA2428540168CACNA1Fc.3085T= (p.Cys1029=)
c.2923T= (p.Cys975=)
c.3118T= (p.Cys1040=)
c.352T= (p.Cys118=)
Xg.49217759A>CCA412964192CACNA1Fc.3085T>G (p.Cys1029Gly)
c.2923T>G (p.Cys975Gly)
c.3118T>G (p.Cys1040Gly)
c.352T>G (p.Cys118Gly)
Xg.49217759A>GCA236350CACNA1Fc.3085T>C (p.Cys1029Arg)
c.2923T>C (p.Cys975Arg)
c.3118T>C (p.Cys1040Arg)
c.352T>C (p.Cys118Arg)
 ClinVar dbSNP
Xg.49217759A>TCA412964193CACNA1Fc.3085T>A (p.Cys1029Ser)
c.2923T>A (p.Cys975Ser)
c.3118T>A (p.Cys1040Ser)
c.352T>A (p.Cys118Ser)
Xg.49217760T>ACA412964194CACNA1Fc.3084A>T (p.Glu1028Asp)
c.2922A>T (p.Glu974Asp)
c.3117A>T (p.Glu1039Asp)
c.351A>T (p.Glu117Asp)
Xg.49217760T>CCA516377373CACNA1Fc.3084A>G (p.Glu1028=)
c.2922A>G (p.Glu974=)
c.3117A>G (p.Glu1039=)
c.351A>G (p.Glu117=)
Xg.49217760T>GCA412964195CACNA1Fc.3084A>C (p.Glu1028Asp)
c.2922A>C (p.Glu974Asp)
c.3117A>C (p.Glu1039Asp)
c.351A>C (p.Glu117Asp)
 COSMIC
Xg.49217761T>ACA412964196CACNA1Fc.3083A>T (p.Glu1028Val)
c.2921A>T (p.Glu974Val)
c.3116A>T (p.Glu1039Val)
c.350A>T (p.Glu117Val)
Xg.49217761T>CCA412964197CACNA1Fc.3083A>G (p.Glu1028Gly)
c.2921A>G (p.Glu974Gly)
c.3116A>G (p.Glu1039Gly)
c.350A>G (p.Glu117Gly)
Xg.49217761T>GCA412964198CACNA1Fc.3083A>C (p.Glu1028Ala)
c.2921A>C (p.Glu974Ala)
c.3116A>C (p.Glu1039Ala)
c.350A>C (p.Glu117Ala)
Xg.49217762C>ACA412964199CACNA1Fc.3082G>T (p.Glu1028Ter)
c.2920G>T (p.Glu974Ter)
c.3115G>T (p.Glu1039Ter)
c.349G>T (p.Glu117Ter)
Xg.49217762C>GCA412964201CACNA1Fc.3082G>C (p.Glu1028Gln)
c.2920G>C (p.Glu974Gln)
c.3115G>C (p.Glu1039Gln)
c.349G>C (p.Glu117Gln)
Xg.49217762C>TCA412964200CACNA1Fc.3082G>A (p.Glu1028Lys)
c.2920G>A (p.Glu974Lys)
c.3115G>A (p.Glu1039Lys)
c.349G>A (p.Glu117Lys)
Xg.49217763T>ACA412964202CACNA1Fc.3081A>T (p.Gln1027His)
c.2919A>T (p.Gln973His)
c.3114A>T (p.Gln1038His)
c.348A>T (p.Gln116His)
Xg.49217763T>CCA516377374CACNA1Fc.3081A>G (p.Gln1027=)
c.2919A>G (p.Gln973=)
c.3114A>G (p.Gln1038=)
c.348A>G (p.Gln116=)
 gnomAD v4
Xg.49217763T>GCA412964203CACNA1Fc.3081A>C (p.Gln1027His)
c.2919A>C (p.Gln973His)
c.3114A>C (p.Gln1038His)
c.348A>C (p.Gln116His)
Xg.49217764T>ACA412964204CACNA1Fc.3080A>T (p.Gln1027Leu)
c.2918A>T (p.Gln973Leu)
c.3113A>T (p.Gln1038Leu)
c.347A>T (p.Gln116Leu)
Xg.49217764T>CCA412964205CACNA1Fc.3080A>G (p.Gln1027Arg)
c.2918A>G (p.Gln973Arg)
c.3113A>G (p.Gln1038Arg)
c.347A>G (p.Gln116Arg)
Xg.49217764T>GCA412964206CACNA1Fc.3080A>C (p.Gln1027Pro)
c.2918A>C (p.Gln973Pro)
c.3113A>C (p.Gln1038Pro)
c.347A>C (p.Gln116Pro)
Xg.49217765G>ACA412964207CACNA1Fc.3079C>T (p.Gln1027Ter)
c.2917C>T (p.Gln973Ter)
c.3112C>T (p.Gln1038Ter)
c.346C>T (p.Gln116Ter)
Xg.49217765G>CCA412964208CACNA1Fc.3079C>G (p.Gln1027Glu)
c.2917C>G (p.Gln973Glu)
c.3112C>G (p.Gln1038Glu)
c.346C>G (p.Gln116Glu)
Xg.49217765G>TCA412964209CACNA1Fc.3079C>A (p.Gln1027Lys)
c.2917C>A (p.Gln973Lys)
c.3112C>A (p.Gln1038Lys)
c.346C>A (p.Gln116Lys)
Xg.49217766A>CCA516377377CACNA1Fc.3078T>G (p.Pro1026=)
c.2916T>G (p.Pro972=)
c.3111T>G (p.Pro1037=)
c.345T>G (p.Pro115=)
Xg.49217766A>GCA516377376CACNA1Fc.3078T>C (p.Pro1026=)
c.2916T>C (p.Pro972=)
c.3111T>C (p.Pro1037=)
c.345T>C (p.Pro115=)
Xg.49217766A>TCA516377375CACNA1Fc.3078T>A (p.Pro1026=)
c.2916T>A (p.Pro972=)
c.3111T>A (p.Pro1037=)
c.345T>A (p.Pro115=)
Xg.49217766_49217767delinsAGCA2428540169CACNA1Fc.3077_3078delinsCT (p.Pro1026=)
c.2915_2916delinsCT (p.Pro972=)
c.3110_3111delinsCT (p.Pro1037=)
c.344_345delinsCT (p.Pro115=)
Xg.49217767G>ACA412964210CACNA1Fc.3077C>T (p.Pro1026Leu)
c.2915C>T (p.Pro972Leu)
c.3110C>T (p.Pro1037Leu)
c.344C>T (p.Pro115Leu)
Xg.49217767G>CCA412964211CACNA1Fc.3077C>G (p.Pro1026Arg)
c.2915C>G (p.Pro972Arg)
c.3110C>G (p.Pro1037Arg)
c.344C>G (p.Pro115Arg)
Xg.49217767G>TCA412964212CACNA1Fc.3077C>A (p.Pro1026His)
c.2915C>A (p.Pro972His)
c.3110C>A (p.Pro1037His)
c.344C>A (p.Pro115His)
Xg.49217770delCA329140708CACNA1Fc.3077del (p.Pro1026LeufsTer?)
c.2915del (p.Pro972LeufsTer?)
c.3110del (p.Pro1037LeufsTer?)
c.344del (p.Pro115LeufsTer?)
 dbSNP
Xg.49217768G>ACA412964215CACNA1Fc.3076C>T (p.Pro1026Ser)
c.2914C>T (p.Pro972Ser)
c.3109C>T (p.Pro1037Ser)
c.343C>T (p.Pro115Ser)
Xg.49217768G>CCA412964214CACNA1Fc.3076C>G (p.Pro1026Ala)
c.2914C>G (p.Pro972Ala)
c.3109C>G (p.Pro1037Ala)
c.343C>G (p.Pro115Ala)
Xg.49217768G>TCA412964213CACNA1Fc.3076C>A (p.Pro1026Thr)
c.2914C>A (p.Pro972Thr)
c.3109C>A (p.Pro1037Thr)
c.343C>A (p.Pro115Thr)
Xg.49217769G>ACA516377378CACNA1Fc.3075C>T (p.Thr1025=)
c.2913C>T (p.Thr971=)
c.3108C>T (p.Thr1036=)
c.342C>T (p.Thr114=)
Xg.49217769G>CCA516377379CACNA1Fc.3075C>G (p.Thr1025=)
c.2913C>G (p.Thr971=)
c.3108C>G (p.Thr1036=)
c.342C>G (p.Thr114=)
Xg.49217769G>TCA516377380CACNA1Fc.3075C>A (p.Thr1025=)
c.2913C>A (p.Thr971=)
c.3108C>A (p.Thr1036=)
c.342C>A (p.Thr114=)
Xg.49217770G>ACA412964217CACNA1Fc.3074C>T (p.Thr1025Ile)
c.2912C>T (p.Thr971Ile)
c.3107C>T (p.Thr1036Ile)
c.341C>T (p.Thr114Ile)
 ClinVar
Xg.49217770G>CCA412964216CACNA1Fc.3074C>G (p.Thr1025Ser)
c.2912C>G (p.Thr971Ser)
c.3107C>G (p.Thr1036Ser)
c.341C>G (p.Thr114Ser)
Xg.49217770G>TCA412964218CACNA1Fc.3074C>A (p.Thr1025Asn)
c.2912C>A (p.Thr971Asn)
c.3107C>A (p.Thr1036Asn)
c.341C>A (p.Thr114Asn)
Xg.49217771T>ACA412964219CACNA1Fc.3073A>T (p.Thr1025Ser)
c.2911A>T (p.Thr971Ser)
c.3106A>T (p.Thr1036Ser)
c.340A>T (p.Thr114Ser)
Xg.49217771T>CCA412964220CACNA1Fc.3073A>G (p.Thr1025Ala)
c.2911A>G (p.Thr971Ala)
c.3106A>G (p.Thr1036Ala)
c.340A>G (p.Thr114Ala)
 gnomAD v4
Xg.49217771T>GCA412964221CACNA1Fc.3073A>C (p.Thr1025Pro)
c.2911A>C (p.Thr971Pro)
c.3106A>C (p.Thr1036Pro)
c.340A>C (p.Thr114Pro)
Xg.49217772G>ACA516377381CACNA1Fc.3072C>T (p.His1024=)
c.2910C>T (p.His970=)
c.3105C>T (p.His1035=)
c.339C>T (p.His113=)
 gnomAD v4
Xg.49217772G>CCA412964222CACNA1Fc.3072C>G (p.His1024Gln)
c.2910C>G (p.His970Gln)
c.3105C>G (p.His1035Gln)
c.339C>G (p.His113Gln)
Xg.49217772G>TCA412964223CACNA1Fc.3072C>A (p.His1024Gln)
c.2910C>A (p.His970Gln)
c.3105C>A (p.His1035Gln)
c.339C>A (p.His113Gln)
Xg.49217773T>ACA412964224CACNA1Fc.3071A>T (p.His1024Leu)
c.2909A>T (p.His970Leu)
c.3104A>T (p.His1035Leu)
c.338A>T (p.His113Leu)
Xg.49217773T>CCA412964225CACNA1Fc.3071A>G (p.His1024Arg)
c.2909A>G (p.His970Arg)
c.3104A>G (p.His1035Arg)
c.338A>G (p.His113Arg)
Xg.49217773T>GCA412964226CACNA1Fc.3071A>C (p.His1024Pro)
c.2909A>C (p.His970Pro)
c.3104A>C (p.His1035Pro)
c.338A>C (p.His113Pro)
Xg.49217774G>ACA412964227CACNA1Fc.3070C>T (p.His1024Tyr)
c.2908C>T (p.His970Tyr)
c.3103C>T (p.His1035Tyr)
c.337C>T (p.His113Tyr)
 dbSNP
Xg.49217774G>CCA412964228CACNA1Fc.3070C>G (p.His1024Asp)
c.2908C>G (p.His970Asp)
c.3103C>G (p.His1035Asp)
c.337C>G (p.His113Asp)
Xg.49217774G=CA2428540170CACNA1Fc.3070C= (p.His1024=)
c.2908C= (p.His970=)
c.3103C= (p.His1035=)
c.337C= (p.His113=)
Xg.49217774G>TCA412964229CACNA1Fc.3070C>A (p.His1024Asn)
c.2908C>A (p.His970Asn)
c.3103C>A (p.His1035Asn)
c.337C>A (p.His113Asn)
Xg.49217775T>ACA412964230CACNA1Fc.3069A>T (p.Lys1023Asn)
c.2907A>T (p.Lys969Asn)
c.3102A>T (p.Lys1034Asn)
c.336A>T (p.Lys112Asn)
Xg.49217775T>CCA516377382CACNA1Fc.3069A>G (p.Lys1023=)
c.2907A>G (p.Lys969=)
c.3102A>G (p.Lys1034=)
c.336A>G (p.Lys112=)
Xg.49217775T>GCA412964231CACNA1Fc.3069A>C (p.Lys1023Asn)
c.2907A>C (p.Lys969Asn)
c.3102A>C (p.Lys1034Asn)
c.336A>C (p.Lys112Asn)
Xg.49217776T>ACA412964232CACNA1Fc.3068A>T (p.Lys1023Ile)
c.2906A>T (p.Lys969Ile)
c.3101A>T (p.Lys1034Ile)
c.335A>T (p.Lys112Ile)
Xg.49217776T>CCA412964234CACNA1Fc.3068A>G (p.Lys1023Arg)
c.2906A>G (p.Lys969Arg)
c.3101A>G (p.Lys1034Arg)
c.335A>G (p.Lys112Arg)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217776T>GCA412964233CACNA1Fc.3068A>C (p.Lys1023Thr)
c.2906A>C (p.Lys969Thr)
c.3101A>C (p.Lys1034Thr)
c.335A>C (p.Lys112Thr)
Xg.49217776T=CA2428540171CACNA1Fc.3068A= (p.Lys1023=)
c.2906A= (p.Lys969=)
c.3101A= (p.Lys1034=)
c.335A= (p.Lys112=)
Xg.49217777T>ACA412964235CACNA1Fc.3067A>T (p.Lys1023Ter)
c.2905A>T (p.Lys969Ter)
c.3100A>T (p.Lys1034Ter)
c.334A>T (p.Lys112Ter)
Xg.49217777T>CCA412964236CACNA1Fc.3067A>G (p.Lys1023Glu)
c.2905A>G (p.Lys969Glu)
c.3100A>G (p.Lys1034Glu)
c.334A>G (p.Lys112Glu)
Xg.49217777T>GCA412964237CACNA1Fc.3067A>C (p.Lys1023Gln)
c.2905A>C (p.Lys969Gln)
c.3100A>C (p.Lys1034Gln)
c.334A>C (p.Lys112Gln)
Xg.49217778G>ACA516377383CACNA1Fc.3066C>T (p.Ala1022=)
c.2904C>T (p.Ala968=)
c.3099C>T (p.Ala1033=)
c.333C>T (p.Ala111=)
Xg.49217778G>CCA516377384CACNA1Fc.3066C>G (p.Ala1022=)
c.2904C>G (p.Ala968=)
c.3099C>G (p.Ala1033=)
c.333C>G (p.Ala111=)
 dbSNP
Xg.49217778G=CA2428540172CACNA1Fc.3066C= (p.Ala1022=)
c.2904C= (p.Ala968=)
c.3099C= (p.Ala1033=)
c.333C= (p.Ala111=)
Xg.49217778G>TCA516377385CACNA1Fc.3066C>A (p.Ala1022=)
c.2904C>A (p.Ala968=)
c.3099C>A (p.Ala1033=)
c.333C>A (p.Ala111=)
Xg.49217779G>ACA412964238CACNA1Fc.3065C>T (p.Ala1022Val)
c.2903C>T (p.Ala968Val)
c.3098C>T (p.Ala1033Val)
c.332C>T (p.Ala111Val)
 gnomAD v4
Xg.49217779G>CCA412964239CACNA1Fc.3065C>G (p.Ala1022Gly)
c.2903C>G (p.Ala968Gly)
c.3098C>G (p.Ala1033Gly)
c.332C>G (p.Ala111Gly)
Xg.49217779G=CA2428540173CACNA1Fc.3065C= (p.Ala1022=)
c.2903C= (p.Ala968=)
c.3098C= (p.Ala1033=)
c.332C= (p.Ala111=)
Xg.49217779G>TCA412964240CACNA1Fc.3065C>A (p.Ala1022Asp)
c.2903C>A (p.Ala968Asp)
c.3098C>A (p.Ala1033Asp)
c.332C>A (p.Ala111Asp)
 ClinVar dbSNP
Xg.49217780_49217784delCA2693707617CACNA1Fc.3061_3065del (p.Glu1021GlnfsTer?)
c.2899_2903del (p.Glu967GlnfsTer?)
c.3094_3098del (p.Glu1032GlnfsTer?)
c.328_332del (p.Glu110GlnfsTer?)
 gnomAD v4
Xg.49217780C>ACA412964241CACNA1Fc.3064G>T (p.Ala1022Ser)
c.2902G>T (p.Ala968Ser)
c.3097G>T (p.Ala1033Ser)
c.331G>T (p.Ala111Ser)
Xg.49217780C>GCA412964242CACNA1Fc.3064G>C (p.Ala1022Pro)
c.2902G>C (p.Ala968Pro)
c.3097G>C (p.Ala1033Pro)
c.331G>C (p.Ala111Pro)
Xg.49217780C>TCA412964243CACNA1Fc.3064G>A (p.Ala1022Thr)
c.2902G>A (p.Ala968Thr)
c.3097G>A (p.Ala1033Thr)
c.331G>A (p.Ala111Thr)
Xg.49217781C>ACA412964244CACNA1Fc.3063G>T (p.Glu1021Asp)
c.2901G>T (p.Glu967Asp)
c.3096G>T (p.Glu1032Asp)
c.330G>T (p.Glu110Asp)
Xg.49217781C=CA2428540174CACNA1Fc.3063G= (p.Glu1021=)
c.2901G= (p.Glu967=)
c.3096G= (p.Glu1032=)
c.330G= (p.Glu110=)
Xg.49217781C>GCA412964245CACNA1Fc.3063G>C (p.Glu1021Asp)
c.2901G>C (p.Glu967Asp)
c.3096G>C (p.Glu1032Asp)
c.330G>C (p.Glu110Asp)
Xg.49217781C>TCA516377386CACNA1Fc.3063G>A (p.Glu1021=)
c.2901G>A (p.Glu967=)
c.3096G>A (p.Glu1032=)
c.330G>A (p.Glu110=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217782T>ACA412964248CACNA1Fc.3062A>T (p.Glu1021Val)
c.2900A>T (p.Glu967Val)
c.3095A>T (p.Glu1032Val)
c.329A>T (p.Glu110Val)
Xg.49217782T>CCA412964247CACNA1Fc.3062A>G (p.Glu1021Gly)
c.2900A>G (p.Glu967Gly)
c.3095A>G (p.Glu1032Gly)
c.329A>G (p.Glu110Gly)
Xg.49217782T>GCA412964246CACNA1Fc.3062A>C (p.Glu1021Ala)
c.2900A>C (p.Glu967Ala)
c.3095A>C (p.Glu1032Ala)
c.329A>C (p.Glu110Ala)
Xg.49217783C>ACA412964250CACNA1Fc.3061G>T (p.Glu1021Ter)
c.2899G>T (p.Glu967Ter)
c.3094G>T (p.Glu1032Ter)
c.328G>T (p.Glu110Ter)
Xg.49217783C=CA2428540175CACNA1Fc.3061G= (p.Glu1021=)
c.2899G= (p.Glu967=)
c.3094G= (p.Glu1032=)
c.328G= (p.Glu110=)
Xg.49217783C>GCA412964249CACNA1Fc.3061G>C (p.Glu1021Gln)
c.2899G>C (p.Glu967Gln)
c.3094G>C (p.Glu1032Gln)
c.328G>C (p.Glu110Gln)
Xg.49217783C>TCA10410544CACNA1Fc.3061G>A (p.Glu1021Lys)
c.2899G>A (p.Glu967Lys)
c.3094G>A (p.Glu1032Lys)
c.328G>A (p.Glu110Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217784G>ACA10410545CACNA1Fc.3060C>T (p.Asp1020=)
c.2898C>T (p.Asp966=)
c.3093C>T (p.Asp1031=)
c.327C>T (p.Asp109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.49217784G>CCA412964251CACNA1Fc.3060C>G (p.Asp1020Glu)
c.2898C>G (p.Asp966Glu)
c.3093C>G (p.Asp1031Glu)
c.327C>G (p.Asp109Glu)
Xg.49217784G=CA2428540176CACNA1Fc.3060C= (p.Asp1020=)
c.2898C= (p.Asp966=)
c.3093C= (p.Asp1031=)
c.327C= (p.Asp109=)
Xg.49217784G>TCA412964252CACNA1Fc.3060C>A (p.Asp1020Glu)
c.2898C>A (p.Asp966Glu)
c.3093C>A (p.Asp1031Glu)
c.327C>A (p.Asp109Glu)
Xg.49217785T>ACA412964253CACNA1Fc.3059A>T (p.Asp1020Val)
c.2897A>T (p.Asp966Val)
c.3092A>T (p.Asp1031Val)
c.326A>T (p.Asp109Val)
Xg.49217785T>CCA412964254CACNA1Fc.3059A>G (p.Asp1020Gly)
c.2897A>G (p.Asp966Gly)
c.3092A>G (p.Asp1031Gly)
c.326A>G (p.Asp109Gly)
Xg.49217785T>GCA412964255CACNA1Fc.3059A>C (p.Asp1020Ala)
c.2897A>C (p.Asp966Ala)
c.3092A>C (p.Asp1031Ala)
c.326A>C (p.Asp109Ala)
Xg.49217786C>ACA412964256CACNA1Fc.3058G>T (p.Asp1020Tyr)
c.2896G>T (p.Asp966Tyr)
c.3091G>T (p.Asp1031Tyr)
c.325G>T (p.Asp109Tyr)
Xg.49217786C>GCA412964257CACNA1Fc.3058G>C (p.Asp1020His)
c.2896G>C (p.Asp966His)
c.3091G>C (p.Asp1031His)
c.325G>C (p.Asp109His)
Xg.49217786C>TCA412964258CACNA1Fc.3058G>A (p.Asp1020Asn)
c.2896G>A (p.Asp966Asn)
c.3091G>A (p.Asp1031Asn)
c.325G>A (p.Asp109Asn)
Xg.49217787C>ACA516377387CACNA1Fc.3057G>T (p.Thr1019=)
c.2895G>T (p.Thr965=)
c.3090G>T (p.Thr1030=)
c.324G>T (p.Thr108=)
 COSMIC
Xg.49217787C=CA2428540177CACNA1Fc.3057G= (p.Thr1019=)
c.2895G= (p.Thr965=)
c.3090G= (p.Thr1030=)
c.324G= (p.Thr108=)
Xg.49217787C>GCA516377388CACNA1Fc.3057G>C (p.Thr1019=)
c.2895G>C (p.Thr965=)
c.3090G>C (p.Thr1030=)
c.324G>C (p.Thr108=)
Xg.49217787C>TCA10410546CACNA1Fc.3057G>A (p.Thr1019=)
c.2895G>A (p.Thr965=)
c.3090G>A (p.Thr1030=)
c.324G>A (p.Thr108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.49217788G>ACA10410547CACNA1Fc.3056C>T (p.Thr1019Met)
c.2894C>T (p.Thr965Met)
c.3089C>T (p.Thr1030Met)
c.323C>T (p.Thr108Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49217788G>CCA412964260CACNA1Fc.3056C>G (p.Thr1019Arg)
c.2894C>G (p.Thr965Arg)
c.3089C>G (p.Thr1030Arg)
c.323C>G (p.Thr108Arg)
Xg.49217788G=CA2428540178CACNA1Fc.3056C= (p.Thr1019=)
c.2894C= (p.Thr965=)
c.3089C= (p.Thr1030=)
c.323C= (p.Thr108=)
Xg.49217788G>TCA412964259CACNA1Fc.3056C>A (p.Thr1019Lys)
c.2894C>A (p.Thr965Lys)
c.3089C>A (p.Thr1030Lys)
c.323C>A (p.Thr108Lys)
 gnomAD v4
Xg.49217789T>ACA412964261CACNA1Fc.3055A>T (p.Thr1019Ser)
c.2893A>T (p.Thr965Ser)
c.3088A>T (p.Thr1030Ser)
c.322A>T (p.Thr108Ser)
Xg.49217789T>CCA412964262CACNA1Fc.3055A>G (p.Thr1019Ala)
c.2893A>G (p.Thr965Ala)
c.3088A>G (p.Thr1030Ala)
c.322A>G (p.Thr108Ala)
Xg.49217789T>GCA412964263CACNA1Fc.3055A>C (p.Thr1019Pro)
c.2893A>C (p.Thr965Pro)
c.3088A>C (p.Thr1030Pro)
c.322A>C (p.Thr108Pro)
Xg.49217790G>ACA516377389CACNA1Fc.3054C>T (p.Cys1018=)
c.2892C>T (p.Cys964=)
c.3087C>T (p.Cys1029=)
c.321C>T (p.Cys107=)
Xg.49217790G>CCA412964264CACNA1Fc.3054C>G (p.Cys1018Trp)
c.2892C>G (p.Cys964Trp)
c.3087C>G (p.Cys1029Trp)
c.321C>G (p.Cys107Trp)
Xg.49217790G>TCA412964265CACNA1Fc.3054C>A (p.Cys1018Ter)
c.2892C>A (p.Cys964Ter)
c.3087C>A (p.Cys1029Ter)
c.321C>A (p.Cys107Ter)
Xg.49217791C>ACA412964268CACNA1Fc.3053G>T (p.Cys1018Phe)
c.2891G>T (p.Cys964Phe)
c.3086G>T (p.Cys1029Phe)
c.320G>T (p.Cys107Phe)
Xg.49217791C>GCA412964266CACNA1Fc.3053G>C (p.Cys1018Ser)
c.2891G>C (p.Cys964Ser)
c.3086G>C (p.Cys1029Ser)
c.320G>C (p.Cys107Ser)
Xg.49217791C>TCA412964267CACNA1Fc.3053G>A (p.Cys1018Tyr)
c.2891G>A (p.Cys964Tyr)
c.3086G>A (p.Cys1029Tyr)
c.320G>A (p.Cys107Tyr)
Xg.49217792A>CCA412964269CACNA1Fc.3052T>G (p.Cys1018Gly)
c.2890T>G (p.Cys964Gly)
c.3085T>G (p.Cys1029Gly)
c.319T>G (p.Cys107Gly)
Xg.49217792A>GCA412964270CACNA1Fc.3052T>C (p.Cys1018Arg)
c.2890T>C (p.Cys964Arg)
c.3085T>C (p.Cys1029Arg)
c.319T>C (p.Cys107Arg)
Xg.49217792A>TCA412964271CACNA1Fc.3052T>A (p.Cys1018Ser)
c.2890T>A (p.Cys964Ser)
c.3085T>A (p.Cys1029Ser)
c.319T>A (p.Cys107Ser)
Xg.49217793G>ACA516377390CACNA1Fc.3051C>T (p.Thr1017=)
c.2889C>T (p.Thr963=)
c.3084C>T (p.Thr1028=)
c.318C>T (p.Thr106=)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217793G>CCA516377391CACNA1Fc.3051C>G (p.Thr1017=)
c.2889C>G (p.Thr963=)
c.3084C>G (p.Thr1028=)
c.318C>G (p.Thr106=)
Xg.49217793G=CA2428540179CACNA1Fc.3051C= (p.Thr1017=)
c.2889C= (p.Thr963=)
c.3084C= (p.Thr1028=)
c.318C= (p.Thr106=)
Xg.49217793G>TCA516377392CACNA1Fc.3051C>A (p.Thr1017=)
c.2889C>A (p.Thr963=)
c.3084C>A (p.Thr1028=)
c.318C>A (p.Thr106=)
Xg.49217794G>ACA412964272CACNA1Fc.3050C>T (p.Thr1017Ile)
c.2888C>T (p.Thr963Ile)
c.3083C>T (p.Thr1028Ile)
c.317C>T (p.Thr106Ile)
Xg.49217794G>CCA412964273CACNA1Fc.3050C>G (p.Thr1017Ser)
c.2888C>G (p.Thr963Ser)
c.3083C>G (p.Thr1028Ser)
c.317C>G (p.Thr106Ser)
Xg.49217794G=CA2428540180CACNA1Fc.3050C= (p.Thr1017=)
c.2888C= (p.Thr963=)
c.3083C= (p.Thr1028=)
c.317C= (p.Thr106=)
Xg.49217794G>TCA10410548CACNA1Fc.3050C>A (p.Thr1017Asn)
c.2888C>A (p.Thr963Asn)
c.3083C>A (p.Thr1028Asn)
c.317C>A (p.Thr106Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49217795T>ACA412964275CACNA1Fc.3049A>T (p.Thr1017Ser)
c.2887A>T (p.Thr963Ser)
c.3082A>T (p.Thr1028Ser)
c.316A>T (p.Thr106Ser)
Xg.49217795T>CCA412964276CACNA1Fc.3049A>G (p.Thr1017Ala)
c.2887A>G (p.Thr963Ala)
c.3082A>G (p.Thr1028Ala)
c.316A>G (p.Thr106Ala)
Xg.49217795T>GCA412964274CACNA1Fc.3049A>C (p.Thr1017Pro)
c.2887A>C (p.Thr963Pro)
c.3082A>C (p.Thr1028Pro)
c.316A>C (p.Thr106Pro)
Xg.49217796G>ACA516377393CACNA1Fc.3048C>T (p.Tyr1016=)
c.2886C>T (p.Tyr962=)
c.3081C>T (p.Tyr1027=)
c.315C>T (p.Tyr105=)
 ClinVar
Xg.49217796G>CCA412964277CACNA1Fc.3048C>G (p.Tyr1016Ter)
c.2886C>G (p.Tyr962Ter)
c.3081C>G (p.Tyr1027Ter)
c.315C>G (p.Tyr105Ter)
Xg.49217796G>TCA412964278CACNA1Fc.3048C>A (p.Tyr1016Ter)
c.2886C>A (p.Tyr962Ter)
c.3081C>A (p.Tyr1027Ter)
c.315C>A (p.Tyr105Ter)
 ClinVar
Xg.49217797T>ACA412964279CACNA1Fc.3047A>T (p.Tyr1016Phe)
c.2885A>T (p.Tyr962Phe)
c.3080A>T (p.Tyr1027Phe)
c.314A>T (p.Tyr105Phe)
Xg.49217797T>CCA412964280CACNA1Fc.3047A>G (p.Tyr1016Cys)
c.2885A>G (p.Tyr962Cys)
c.3080A>G (p.Tyr1027Cys)
c.314A>G (p.Tyr105Cys)
Xg.49217797T>GCA412964281CACNA1Fc.3047A>C (p.Tyr1016Ser)
c.2885A>C (p.Tyr962Ser)
c.3080A>C (p.Tyr1027Ser)
c.314A>C (p.Tyr105Ser)
Xg.49217798A>CCA412964282CACNA1Fc.3046T>G (p.Tyr1016Asp)
c.2884T>G (p.Tyr962Asp)
c.3079T>G (p.Tyr1027Asp)
c.313T>G (p.Tyr105Asp)
Xg.49217798A>GCA412964283CACNA1Fc.3046T>C (p.Tyr1016His)
c.2884T>C (p.Tyr962His)
c.3079T>C (p.Tyr1027His)
c.313T>C (p.Tyr105His)
Xg.49217798A>TCA412964284CACNA1Fc.3046T>A (p.Tyr1016Asn)
c.2884T>A (p.Tyr962Asn)
c.3079T>A (p.Tyr1027Asn)
c.313T>A (p.Tyr105Asn)
Xg.49217799G>ACA10410549CACNA1Fc.3045C>T (p.Phe1015=)
c.2883C>T (p.Phe961=)
c.3078C>T (p.Phe1026=)
c.312C>T (p.Phe104=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217799G>CCA412964285CACNA1Fc.3045C>G (p.Phe1015Leu)
c.2883C>G (p.Phe961Leu)
c.3078C>G (p.Phe1026Leu)
c.312C>G (p.Phe104Leu)
Xg.49217799G=CA2428540181CACNA1Fc.3045C= (p.Phe1015=)
c.2883C= (p.Phe961=)
c.3078C= (p.Phe1026=)
c.312C= (p.Phe104=)
Xg.49217799G>TCA412964286CACNA1Fc.3045C>A (p.Phe1015Leu)
c.2883C>A (p.Phe961Leu)
c.3078C>A (p.Phe1026Leu)
c.312C>A (p.Phe104Leu)
 ClinVar dbSNP
Xg.49217800A>CCA412964287CACNA1Fc.3044T>G (p.Phe1015Cys)
c.2882T>G (p.Phe961Cys)
c.3077T>G (p.Phe1026Cys)
c.311T>G (p.Phe104Cys)
Xg.49217800A>GCA412964288CACNA1Fc.3044T>C (p.Phe1015Ser)
c.2882T>C (p.Phe961Ser)
c.3077T>C (p.Phe1026Ser)
c.311T>C (p.Phe104Ser)
Xg.49217800A>TCA412964289CACNA1Fc.3044T>A (p.Phe1015Tyr)
c.2882T>A (p.Phe961Tyr)
c.3077T>A (p.Phe1026Tyr)
c.311T>A (p.Phe104Tyr)
Xg.49217801A>CCA412964292CACNA1Fc.3043T>G (p.Phe1015Val)
c.2881T>G (p.Phe961Val)
c.3076T>G (p.Phe1026Val)
c.310T>G (p.Phe104Val)
Xg.49217801A>GCA412964290CACNA1Fc.3043T>C (p.Phe1015Leu)
c.2881T>C (p.Phe961Leu)
c.3076T>C (p.Phe1026Leu)
c.310T>C (p.Phe104Leu)
 gnomAD v4
Xg.49217801A>TCA412964291CACNA1Fc.3043T>A (p.Phe1015Ile)
c.2881T>A (p.Phe961Ile)
c.3076T>A (p.Phe1026Ile)
c.310T>A (p.Phe104Ile)
Xg.49217802T>ACA412964293CACNA1Fc.3042A>T (p.Lys1014Asn)
c.2880A>T (p.Lys960Asn)
c.3075A>T (p.Lys1025Asn)
c.309A>T (p.Lys103Asn)
Xg.49217802T>CCA516377394CACNA1Fc.3042A>G (p.Lys1014=)
c.2880A>G (p.Lys960=)
c.3075A>G (p.Lys1025=)
c.309A>G (p.Lys103=)
Xg.49217802T>GCA412964294CACNA1Fc.3042A>C (p.Lys1014Asn)
c.2880A>C (p.Lys960Asn)
c.3075A>C (p.Lys1025Asn)
c.309A>C (p.Lys103Asn)
Xg.49217803T>ACA412964295CACNA1Fc.3041A>T (p.Lys1014Ile)
c.2879A>T (p.Lys960Ile)
c.3074A>T (p.Lys1025Ile)
c.308A>T (p.Lys103Ile)
Xg.49217803T>CCA412964296CACNA1Fc.3041A>G (p.Lys1014Arg)
c.2879A>G (p.Lys960Arg)
c.3074A>G (p.Lys1025Arg)
c.308A>G (p.Lys103Arg)
Xg.49217803T>GCA412964297CACNA1Fc.3041A>C (p.Lys1014Thr)
c.2879A>C (p.Lys960Thr)
c.3074A>C (p.Lys1025Thr)
c.308A>C (p.Lys103Thr)
Xg.49217804T>ACA412964298CACNA1Fc.3040A>T (p.Lys1014Ter)
c.2878A>T (p.Lys960Ter)
c.3073A>T (p.Lys1025Ter)
c.307A>T (p.Lys103Ter)
Xg.49217804T>CCA412964299CACNA1Fc.3040A>G (p.Lys1014Glu)
c.2878A>G (p.Lys960Glu)
c.3073A>G (p.Lys1025Glu)
c.307A>G (p.Lys103Glu)
Xg.49217804T>GCA412964300CACNA1Fc.3040A>C (p.Lys1014Gln)
c.2878A>C (p.Lys960Gln)
c.3073A>C (p.Lys1025Gln)
c.307A>C (p.Lys103Gln)
Xg.49217805C>ACA516377395CACNA1Fc.3039G>T (p.Gly1013=)
c.2877G>T (p.Gly959=)
c.3072G>T (p.Gly1024=)
c.306G>T (p.Gly102=)
Xg.49217805C>GCA516377396CACNA1Fc.3039G>C (p.Gly1013=)
c.2877G>C (p.Gly959=)
c.3072G>C (p.Gly1024=)
c.306G>C (p.Gly102=)
Xg.49217805C>TCA516377397CACNA1Fc.3039G>A (p.Gly1013=)
c.2877G>A (p.Gly959=)
c.3072G>A (p.Gly1024=)
c.306G>A (p.Gly102=)
 gnomAD v4 COSMIC
Xg.49217808dupCA2505049513CACNA1Fc.3039dup
c.2877dup
c.3072dup
c.306dup
Xg.49217806C>ACA412964301CACNA1Fc.3038G>T (p.Gly1013Val)
c.2876G>T (p.Gly959Val)
c.3071G>T (p.Gly1024Val)
c.305G>T (p.Gly102Val)
 gnomAD v4
Xg.49217806C=CA2428540182CACNA1Fc.3038G= (p.Gly1013=)
c.2876G= (p.Gly959=)
c.3071G= (p.Gly1024=)
c.305G= (p.Gly102=)
Xg.49217806C>GCA412964302CACNA1Fc.3038G>C (p.Gly1013Ala)
c.2876G>C (p.Gly959Ala)
c.3071G>C (p.Gly1024Ala)
c.305G>C (p.Gly102Ala)
Xg.49217806C>TCA412964303CACNA1Fc.3038G>A (p.Gly1013Glu)
c.2876G>A (p.Gly959Glu)
c.3071G>A (p.Gly1024Glu)
c.305G>A (p.Gly102Glu)
 dbSNP COSMIC
Xg.49217807C>ACA412964305CACNA1Fc.3037G>T (p.Gly1013Trp)
c.2875G>T (p.Gly959Trp)
c.3070G>T (p.Gly1024Trp)
c.304G>T (p.Gly102Trp)
Xg.49217807C>GCA412964306CACNA1Fc.3037G>C (p.Gly1013Arg)
c.2875G>C (p.Gly959Arg)
c.3070G>C (p.Gly1024Arg)
c.304G>C (p.Gly102Arg)
Xg.49217807C>TCA412964304CACNA1Fc.3037G>A (p.Gly1013Arg)
c.2875G>A (p.Gly959Arg)
c.3070G>A (p.Gly1024Arg)
c.304G>A (p.Gly102Arg)
Xg.49217808C>ACA412964307CACNA1Fc.3037-1G>T (n.3037-1G>T)
c.2875-1G>T (n.2875-1G>T)
c.3070-1G>T (n.3070-1G>T)
c.304-1G>T (n.304-1G>T)
Xg.49217808C>GCA412964308CACNA1Fc.3037-1G>C (n.3037-1G>C)
c.2875-1G>C (n.2875-1G>C)
c.3070-1G>C (n.3070-1G>C)
c.304-1G>C (n.304-1G>C)
Xg.49217808C>TCA412964309CACNA1Fc.3037-1G>A (n.3037-1G>A)
c.2875-1G>A (n.2875-1G>A)
c.3070-1G>A (n.3070-1G>A)
c.304-1G>A (n.304-1G>A)
Xg.49217809T>ACA412964310CACNA1Fc.3037-2A>T (n.3037-2A>T)
c.2875-2A>T (n.2875-2A>T)
c.3070-2A>T (n.3070-2A>T)
c.304-2A>T (n.304-2A>T)
Xg.49217809T>CCA10654934CACNA1Fc.3037-2A>G (n.3037-2A>G)
c.2875-2A>G (n.2875-2A>G)
c.3070-2A>G (n.3070-2A>G)
c.304-2A>G (n.304-2A>G)
 ClinVar dbSNP
Xg.49217809T>GCA412964311CACNA1Fc.3037-2A>C (n.3037-2A>C)
c.2875-2A>C (n.2875-2A>C)
c.3070-2A>C (n.3070-2A>C)
c.304-2A>C (n.304-2A>C)
Xg.49217809T=CA2428540183CACNA1Fc.3037-2A= (n.3037-2A=)
c.2875-2A= (n.2875-2A=)
c.3070-2A= (n.3070-2A=)
c.304-2A= (n.304-2A=)
Xg.49217810G>ACA2820835509CACNA1Fc.3037-3C>T (n.3037-3C>T)
c.2875-3C>T (n.2875-3C>T)
c.3070-3C>T (n.3070-3C>T)
c.304-3C>T (n.304-3C>T)
Xg.49217812A>GCA2693707662CACNA1Fc.3037-5T>C (n.3037-5T>C)
c.2875-5T>C (n.2875-5T>C)
c.3070-5T>C (n.3070-5T>C)
c.304-5T>C (n.304-5T>C)
 gnomAD v4
Xg.49217813G>TCA2579607618CACNA1Fc.3037-6C>A (n.3037-6C>A)
c.2875-6C>A (n.2875-6C>A)
c.3070-6C>A (n.3070-6C>A)
c.304-6C>A (n.304-6C>A)
Xg.49217815G>CCA2580101094CACNA1Fc.3037-8C>G (n.3037-8C>G)
c.2875-8C>G (n.2875-8C>G)
c.3070-8C>G (n.3070-8C>G)
c.304-8C>G (n.304-8C>G)
 ClinVar
Xg.49217816A>GCA2515674587CACNA1Fc.3037-9T>C (n.3037-9T>C)
c.2875-9T>C (n.2875-9T>C)
c.3070-9T>C (n.3070-9T>C)
c.304-9T>C (n.304-9T>C)
Xg.49217817G>ACA645605074CACNA1Fc.3037-10C>T (n.3037-10C>T)
c.2875-10C>T (n.2875-10C>T)
c.3070-10C>T (n.3070-10C>T)
c.304-10C>T (n.304-10C>T)
 dbSNP gnomAD v4 COSMIC
Xg.49217817G=CA2428540184CACNA1Fc.3037-10C= (n.3037-10C=)
c.2875-10C= (n.2875-10C=)
c.3070-10C= (n.3070-10C=)
c.304-10C= (n.304-10C=)
Xg.49217820T>ACA10410550CACNA1Fc.3037-13A>T (n.3037-13A>T)
c.2875-13A>T (n.2875-13A>T)
c.3070-13A>T (n.3070-13A>T)
c.304-13A>T (n.304-13A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49217820T=CA2428540185CACNA1Fc.3037-13A= (n.3037-13A=)
c.2875-13A= (n.2875-13A=)
c.3070-13A= (n.3070-13A=)
c.304-13A= (n.304-13A=)
Xg.49217823C>ACA2428540187CACNA1Fc.3037-16G>T (n.3037-16G>T)
c.2875-16G>T (n.2875-16G>T)
c.3070-16G>T (n.3070-16G>T)
c.304-16G>T (n.304-16G>T)
 dbSNP
Xg.49217823C=CA2428540186CACNA1Fc.3037-16G= (n.3037-16G=)
c.2875-16G= (n.2875-16G=)
c.3070-16G= (n.3070-16G=)
c.304-16G= (n.304-16G=)
Xg.49217825G>CCA2693707667CACNA1Fc.3037-18C>G (n.3037-18C>G)
c.2875-18C>G (n.2875-18C>G)
c.3070-18C>G (n.3070-18C>G)
c.304-18C>G (n.304-18C>G)
 gnomAD v4
Xg.49217826T>CCA2693707669CACNA1Fc.3037-19A>G (n.3037-19A>G)
c.2875-19A>G (n.2875-19A>G)
c.3070-19A>G (n.3070-19A>G)
c.304-19A>G (n.304-19A>G)
 gnomAD v4

Number of alleles fetched