Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49216344G>TCA2693715871CACNA1Fc.3236+38C>A (n.3236+38C>A)
c.3074+38C>A (n.3074+38C>A)
c.3269+38C>A (n.3269+38C>A)
c.503+38C>A (n.503+38C>A)
 gnomAD v4
Xg.49216345C=CA2428539689CACNA1Fc.3236+37G= (n.3236+37G=)
c.3074+37G= (n.3074+37G=)
c.3269+37G= (n.3269+37G=)
c.503+37G= (n.503+37G=)
Xg.49216345C>TCA641531062CACNA1Fc.3236+37G>A (n.3236+37G>A)
c.3074+37G>A (n.3074+37G>A)
c.3269+37G>A (n.3269+37G>A)
c.503+37G>A (n.503+37G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.49216346C=CA2428539690CACNA1Fc.3236+36G= (n.3236+36G=)
c.3074+36G= (n.3074+36G=)
c.3269+36G= (n.3269+36G=)
c.503+36G= (n.503+36G=)
Xg.49216346C>TCA10410507CACNA1Fc.3236+36G>A (n.3236+36G>A)
c.3074+36G>A (n.3074+36G>A)
c.3269+36G>A (n.3269+36G>A)
c.503+36G>A (n.503+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216347T>CCA2693715874CACNA1Fc.3236+35A>G (n.3236+35A>G)
c.3074+35A>G (n.3074+35A>G)
c.3269+35A>G (n.3269+35A>G)
c.503+35A>G (n.503+35A>G)
 gnomAD v4
Xg.49216350T>ACA2428539692CACNA1Fc.3236+32A>T (n.3236+32A>T)
c.3074+32A>T (n.3074+32A>T)
c.3269+32A>T (n.3269+32A>T)
c.503+32A>T (n.503+32A>T)
 dbSNP
Xg.49216350T>CCA2693715875CACNA1Fc.3236+32A>G (n.3236+32A>G)
c.3074+32A>G (n.3074+32A>G)
c.3269+32A>G (n.3269+32A>G)
c.503+32A>G (n.503+32A>G)
 gnomAD v4
Xg.49216350T=CA2428539691CACNA1Fc.3236+32A= (n.3236+32A=)
c.3074+32A= (n.3074+32A=)
c.3269+32A= (n.3269+32A=)
c.503+32A= (n.503+32A=)
Xg.49216351C=CA2428539693CACNA1Fc.3236+31G= (n.3236+31G=)
c.3074+31G= (n.3074+31G=)
c.3269+31G= (n.3269+31G=)
c.503+31G= (n.503+31G=)
Xg.49216351C>TCA10410508CACNA1Fc.3236+31G>A (n.3236+31G>A)
c.3074+31G>A (n.3074+31G>A)
c.3269+31G>A (n.3269+31G>A)
c.503+31G>A (n.503+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49216351_49216359delCA2820835084CACNA1Fc.3236+23_3236+31del (n.3236+23_3236+31del)
c.3074+23_3074+31del (n.3074+23_3074+31del)
c.3269+23_3269+31del (n.3269+23_3269+31del)
c.503+23_503+31del (n.503+23_503+31del)
Xg.49216352C>TCA2693715879CACNA1Fc.3236+30G>A (n.3236+30G>A)
c.3074+30G>A (n.3074+30G>A)
c.3269+30G>A (n.3269+30G>A)
c.503+30G>A (n.503+30G>A)
 gnomAD v4
Xg.49216354C>ACA2500412068CACNA1Fc.3236+28G>T (n.3236+28G>T)
c.3074+28G>T (n.3074+28G>T)
c.3269+28G>T (n.3269+28G>T)
c.503+28G>T (n.503+28G>T)
Xg.49216354C=CA2428539694CACNA1Fc.3236+28G= (n.3236+28G=)
c.3074+28G= (n.3074+28G=)
c.3269+28G= (n.3269+28G=)
c.503+28G= (n.503+28G=)
Xg.49216354C>TCA10410509CACNA1Fc.3236+28G>A (n.3236+28G>A)
c.3074+28G>A (n.3074+28G>A)
c.3269+28G>A (n.3269+28G>A)
c.503+28G>A (n.503+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49216355T>CCA2693715882CACNA1Fc.3236+27A>G (n.3236+27A>G)
c.3074+27A>G (n.3074+27A>G)
c.3269+27A>G (n.3269+27A>G)
c.503+27A>G (n.503+27A>G)
 gnomAD v4
Xg.49216355T>GCA2693715883CACNA1Fc.3236+27A>C (n.3236+27A>C)
c.3074+27A>C (n.3074+27A>C)
c.3269+27A>C (n.3269+27A>C)
c.503+27A>C (n.503+27A>C)
 gnomAD v4
Xg.49216356G>ACA2693715885CACNA1Fc.3236+26C>T (n.3236+26C>T)
c.3074+26C>T (n.3074+26C>T)
c.3269+26C>T (n.3269+26C>T)
c.503+26C>T (n.503+26C>T)
 gnomAD v4
Xg.49216356G>TCA658000922CACNA1Fc.3236+26C>A (n.3236+26C>A)
c.3074+26C>A (n.3074+26C>A)
c.3269+26C>A (n.3269+26C>A)
c.503+26C>A (n.503+26C>A)
 COSMIC
Xg.49216357A=CA2428539695CACNA1Fc.3236+25T= (n.3236+25T=)
c.3074+25T= (n.3074+25T=)
c.3269+25T= (n.3269+25T=)
c.503+25T= (n.503+25T=)
Xg.49216357A>CCA10410510CACNA1Fc.3236+25T>G (n.3236+25T>G)
c.3074+25T>G (n.3074+25T>G)
c.3269+25T>G (n.3269+25T>G)
c.503+25T>G (n.503+25T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49216359A>GCA2693715892CACNA1Fc.3236+23T>C (n.3236+23T>C)
c.3074+23T>C (n.3074+23T>C)
c.3269+23T>C (n.3269+23T>C)
c.503+23T>C (n.503+23T>C)
 gnomAD v4
Xg.49216359A>TCA2693715893CACNA1Fc.3236+23T>A (n.3236+23T>A)
c.3074+23T>A (n.3074+23T>A)
c.3269+23T>A (n.3269+23T>A)
c.503+23T>A (n.503+23T>A)
 gnomAD v4
Xg.49216361A=CA2428539696CACNA1Fc.3236+21T= (n.3236+21T=)
c.3074+21T= (n.3074+21T=)
c.3269+21T= (n.3269+21T=)
c.503+21T= (n.503+21T=)
Xg.49216361A>GCA10410511CACNA1Fc.3236+21T>C (n.3236+21T>C)
c.3074+21T>C (n.3074+21T>C)
c.3269+21T>C (n.3269+21T>C)
c.503+21T>C (n.503+21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49216362C>ACA2693715896CACNA1Fc.3236+20G>T (n.3236+20G>T)
c.3074+20G>T (n.3074+20G>T)
c.3269+20G>T (n.3269+20G>T)
c.503+20G>T (n.503+20G>T)
 gnomAD v4
Xg.49216362C=CA2428539697CACNA1Fc.3236+20G= (n.3236+20G=)
c.3074+20G= (n.3074+20G=)
c.3269+20G= (n.3269+20G=)
c.503+20G= (n.503+20G=)
Xg.49216362C>GCA2693715897CACNA1Fc.3236+20G>C (n.3236+20G>C)
c.3074+20G>C (n.3074+20G>C)
c.3269+20G>C (n.3269+20G>C)
c.503+20G>C (n.503+20G>C)
 ClinVar gnomAD v4
Xg.49216362C>TCA641531063CACNA1Fc.3236+20G>A (n.3236+20G>A)
c.3074+20G>A (n.3074+20G>A)
c.3269+20G>A (n.3269+20G>A)
c.503+20G>A (n.503+20G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.49216363C=CA2428539698CACNA1Fc.3236+19G= (n.3236+19G=)
c.3074+19G= (n.3074+19G=)
c.3269+19G= (n.3269+19G=)
c.503+19G= (n.503+19G=)
Xg.49216363C>GCA641531064CACNA1Fc.3236+19G>C (n.3236+19G>C)
c.3074+19G>C (n.3074+19G>C)
c.3269+19G>C (n.3269+19G>C)
c.503+19G>C (n.503+19G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216364C>ACA2502184530CACNA1Fc.3236+18G>T (n.3236+18G>T)
c.3074+18G>T (n.3074+18G>T)
c.3269+18G>T (n.3269+18G>T)
c.503+18G>T (n.503+18G>T)
Xg.49216367G>TCA2563792617CACNA1Fc.3236+15C>A (n.3236+15C>A)
c.3074+15C>A (n.3074+15C>A)
c.3269+15C>A (n.3269+15C>A)
c.503+15C>A (n.503+15C>A)
Xg.49216369C>ACA875949680CACNA1Fc.3236+13G>T (n.3236+13G>T)
c.3074+13G>T (n.3074+13G>T)
c.3269+13G>T (n.3269+13G>T)
c.503+13G>T (n.503+13G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.49216369C=CA2428539699CACNA1Fc.3236+13G= (n.3236+13G=)
c.3074+13G= (n.3074+13G=)
c.3269+13G= (n.3269+13G=)
c.503+13G= (n.503+13G=)
Xg.49216369C>TCA2693715899CACNA1Fc.3236+13G>A (n.3236+13G>A)
c.3074+13G>A (n.3074+13G>A)
c.3269+13G>A (n.3269+13G>A)
c.503+13G>A (n.503+13G>A)
 gnomAD v4
Xg.49216370C>ACA2738725254CACNA1Fc.3236+12G>T (n.3236+12G>T)
c.3074+12G>T (n.3074+12G>T)
c.3269+12G>T (n.3269+12G>T)
c.503+12G>T (n.503+12G>T)
 dbSNP
Xg.49216370C>TCA2741749088CACNA1Fc.3236+12G>A (n.3236+12G>A)
c.3074+12G>A (n.3074+12G>A)
c.3269+12G>A (n.3269+12G>A)
c.503+12G>A (n.503+12G>A)
Xg.49216372T>CCA2693715902CACNA1Fc.3236+10A>G (n.3236+10A>G)
c.3074+10A>G (n.3074+10A>G)
c.3269+10A>G (n.3269+10A>G)
c.503+10A>G (n.503+10A>G)
 gnomAD v4
Xg.49216374T>CCA2428539701CACNA1Fc.3236+8A>G (n.3236+8A>G)
c.3074+8A>G (n.3074+8A>G)
c.3269+8A>G (n.3269+8A>G)
c.503+8A>G (n.503+8A>G)
 dbSNP
Xg.49216374T=CA2428539700CACNA1Fc.3236+8A= (n.3236+8A=)
c.3074+8A= (n.3074+8A=)
c.3269+8A= (n.3269+8A=)
c.503+8A= (n.503+8A=)
Xg.49216375C>TCA2697553106CACNA1Fc.3236+7G>A (n.3236+7G>A)
c.3074+7G>A (n.3074+7G>A)
c.3269+7G>A (n.3269+7G>A)
c.503+7G>A (n.503+7G>A)
 ClinVar
Xg.49216378T>CCA2428539703CACNA1Fc.3236+4A>G (n.3236+4A>G)
c.3074+4A>G (n.3074+4A>G)
c.3269+4A>G (n.3269+4A>G)
c.503+4A>G (n.503+4A>G)
 dbSNP gnomAD v4
Xg.49216378T=CA2428539702CACNA1Fc.3236+4A= (n.3236+4A=)
c.3074+4A= (n.3074+4A=)
c.3269+4A= (n.3269+4A=)
c.503+4A= (n.503+4A=)
Xg.49216379C=CA2428539704CACNA1Fc.3236+3G= (n.3236+3G=)
c.3074+3G= (n.3074+3G=)
c.3269+3G= (n.3269+3G=)
c.503+3G= (n.503+3G=)
Xg.49216379C>TCA10410512CACNA1Fc.3236+3G>A (n.3236+3G>A)
c.3074+3G>A (n.3074+3G>A)
c.3269+3G>A (n.3269+3G>A)
c.503+3G>A (n.503+3G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49216380A>CCA412963846CACNA1Fc.3236+2T>G (n.3236+2T>G)
c.3074+2T>G (n.3074+2T>G)
c.3269+2T>G (n.3269+2T>G)
c.503+2T>G (n.503+2T>G)
Xg.49216380A>GCA412963844CACNA1Fc.3236+2T>C (n.3236+2T>C)
c.3074+2T>C (n.3074+2T>C)
c.3269+2T>C (n.3269+2T>C)
c.503+2T>C (n.503+2T>C)
Xg.49216380A>TCA412963845CACNA1Fc.3236+2T>A (n.3236+2T>A)
c.3074+2T>A (n.3074+2T>A)
c.3269+2T>A (n.3269+2T>A)
c.503+2T>A (n.503+2T>A)
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)
 ClinVar 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

Number of alleles fetched