Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13298820_13298830dupCA915952496CACNA1Ac.2804_2814dup (p.Ser939GlyfsTer?)
c.2810_2820dup (p.Ser941GlyfsTer?)
c.2807_2817dup (p.Ser940GlyfsTer?)
c.2816_2826dup (p.Ser943GlyfsTer?)
c.2666_2676dup (p.Ser893GlyfsTer?)
c.3002_3012dup (p.Ser1005GlyfsTer?)
ClinVar dbSNP
19g.13298826T>ACA404342677CACNA1Ac.2807A>T (p.Gln936Leu)
c.2813A>T (p.Gln938Leu)
c.2810A>T (p.Gln937Leu)
c.2819A>T (p.Gln940Leu)
c.2669A>T (p.Gln890Leu)
c.3005A>T (p.Gln1002Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298826T>CCA404342675CACNA1Ac.2807A>G (p.Gln936Arg)
c.2813A>G (p.Gln938Arg)
c.2810A>G (p.Gln937Arg)
c.2819A>G (p.Gln940Arg)
c.2669A>G (p.Gln890Arg)
c.3005A>G (p.Gln1002Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298826T>GCA404342676CACNA1Ac.2807A>C (p.Gln936Pro)
c.2813A>C (p.Gln938Pro)
c.2810A>C (p.Gln937Pro)
c.2819A>C (p.Gln940Pro)
c.2669A>C (p.Gln890Pro)
c.3005A>C (p.Gln1002Pro)
dbSNP
19g.13298826T=CA2323825762CACNA1Ac.2807A= (p.Gln936=)
c.2813A= (p.Gln938=)
c.2810A= (p.Gln937=)
c.2819A= (p.Gln940=)
c.2669A= (p.Gln890=)
c.3005A= (p.Gln1002=)
19g.13298827G>ACA404342678CACNA1Ac.2806C>T (p.Gln936Ter)
c.2812C>T (p.Gln938Ter)
c.2809C>T (p.Gln937Ter)
c.2818C>T (p.Gln940Ter)
c.2668C>T (p.Gln890Ter)
c.3004C>T (p.Gln1002Ter)
ClinVar dbSNP gnomAD v4
19g.13298827G>CCA404342679CACNA1Ac.2806C>G (p.Gln936Glu)
c.2812C>G (p.Gln938Glu)
c.2809C>G (p.Gln937Glu)
c.2818C>G (p.Gln940Glu)
c.2668C>G (p.Gln890Glu)
c.3004C>G (p.Gln1002Glu)
ClinVar dbSNP gnomAD v4
19g.13298827G=CA2323825763CACNA1Ac.2806C= (p.Gln936=)
c.2812C= (p.Gln938=)
c.2809C= (p.Gln937=)
c.2818C= (p.Gln940=)
c.2668C= (p.Gln890=)
c.3004C= (p.Gln1002=)
19g.13298827G>TCA404342680CACNA1Ac.2806C>A (p.Gln936Lys)
c.2812C>A (p.Gln938Lys)
c.2809C>A (p.Gln937Lys)
c.2818C>A (p.Gln940Lys)
c.2668C>A (p.Gln890Lys)
c.3004C>A (p.Gln1002Lys)
ClinVar gnomAD v4
19g.13298828C>ACA505784982CACNA1Ac.2805G>T (p.Arg935=)
c.2811G>T (p.Arg937=)
c.2808G>T (p.Arg936=)
c.2817G>T (p.Arg939=)
c.2667G>T (p.Arg889=)
c.3003G>T (p.Arg1001=)
ClinVar dbSNP gnomAD v4
19g.13298828C=CA2323825765CACNA1Ac.2805G= (p.Arg935=)
c.2811G= (p.Arg937=)
c.2808G= (p.Arg936=)
c.2817G= (p.Arg939=)
c.2667G= (p.Arg889=)
c.3003G= (p.Arg1001=)
19g.13298828C>GCA505784983CACNA1Ac.2805G>C (p.Arg935=)
c.2811G>C (p.Arg937=)
c.2808G>C (p.Arg936=)
c.2817G>C (p.Arg939=)
c.2667G>C (p.Arg889=)
c.3003G>C (p.Arg1001=)
19g.13298828C>TCA305506325CACNA1Ac.2805G>A (p.Arg935=)
c.2811G>A (p.Arg937=)
c.2808G>A (p.Arg936=)
c.2817G>A (p.Arg939=)
c.2667G>A (p.Arg889=)
c.3003G>A (p.Arg1001=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298829delCA2695228298CACNA1Ac.2805del (p.Gln936ArgfsTer?)
c.2811del (p.Gln938ArgfsTer?)
c.2808del (p.Gln937ArgfsTer?)
c.2817del (p.Gln940ArgfsTer?)
c.2667del (p.Gln890ArgfsTer?)
c.3003del (p.Gln1002ArgfsTer?)
19g.13298829C>ACA404342681CACNA1Ac.2804G>T (p.Arg935Leu)
c.2810G>T (p.Arg937Leu)
c.2807G>T (p.Arg936Leu)
c.2816G>T (p.Arg939Leu)
c.2666G>T (p.Arg889Leu)
c.3002G>T (p.Arg1001Leu)
gnomAD v4
19g.13298829C=CA2323825768CACNA1Ac.2804G= (p.Arg935=)
c.2810G= (p.Arg937=)
c.2807G= (p.Arg936=)
c.2816G= (p.Arg939=)
c.2666G= (p.Arg889=)
c.3002G= (p.Arg1001=)
19g.13298829C>GCA404342682CACNA1Ac.2804G>C (p.Arg935Pro)
c.2810G>C (p.Arg937Pro)
c.2807G>C (p.Arg936Pro)
c.2816G>C (p.Arg939Pro)
c.2666G>C (p.Arg889Pro)
c.3002G>C (p.Arg1001Pro)
19g.13298829C>TCA9240473CACNA1Ac.2804G>A (p.Arg935Gln)
c.2810G>A (p.Arg937Gln)
c.2807G>A (p.Arg936Gln)
c.2816G>A (p.Arg939Gln)
c.2666G>A (p.Arg889Gln)
c.3002G>A (p.Arg1001Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298830G>ACA305506330CACNA1Ac.2803C>T (p.Arg935Trp)
c.2809C>T (p.Arg937Trp)
c.2806C>T (p.Arg936Trp)
c.2815C>T (p.Arg939Trp)
c.2665C>T (p.Arg889Trp)
c.3001C>T (p.Arg1001Trp)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298830G>CCA404342683CACNA1Ac.2803C>G (p.Arg935Gly)
c.2809C>G (p.Arg937Gly)
c.2806C>G (p.Arg936Gly)
c.2815C>G (p.Arg939Gly)
c.2665C>G (p.Arg889Gly)
c.3001C>G (p.Arg1001Gly)
gnomAD v4
19g.13298830G=CA2323825770CACNA1Ac.2803C= (p.Arg935=)
c.2809C= (p.Arg937=)
c.2806C= (p.Arg936=)
c.2815C= (p.Arg939=)
c.2665C= (p.Arg889=)
c.3001C= (p.Arg1001=)
19g.13298830G>TCA505784985CACNA1Ac.2803C>A (p.Arg935=)
c.2809C>A (p.Arg937=)
c.2806C>A (p.Arg936=)
c.2815C>A (p.Arg939=)
c.2665C>A (p.Arg889=)
c.3001C>A (p.Arg1001=)
dbSNP gnomAD v4
19g.13298833_13298853dupCA2582833355CACNA1Ac.2783_2803dup (p.His934_Arg935insProHisArgArgHisValHis)
c.2789_2809dup (p.His936_Arg937insProHisArgArgHisValHis)
c.2786_2806dup (p.His935_Arg936insProHisArgArgHisValHis)
c.2795_2815dup (p.His938_Arg939insProHisArgArgHisValHis)
c.2645_2665dup (p.His888_Arg889insProHisArgArgHisValHis)
c.2981_3001dup (p.His1000_Arg1001insProHisArgArgHisValHis)
gnomAD v4
19g.13298831G>ACA505784986CACNA1Ac.2802C>T (p.His934=)
c.2808C>T (p.His936=)
c.2805C>T (p.His935=)
c.2814C>T (p.His938=)
c.2664C>T (p.His888=)
c.3000C>T (p.His1000=)
gnomAD v4
19g.13298831G>CCA9240474CACNA1Ac.2802C>G (p.His934Gln)
c.2808C>G (p.His936Gln)
c.2805C>G (p.His935Gln)
c.2814C>G (p.His938Gln)
c.2664C>G (p.His888Gln)
c.3000C>G (p.His1000Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298831G=CA2323825772CACNA1Ac.2802C= (p.His934=)
c.2808C= (p.His936=)
c.2805C= (p.His935=)
c.2814C= (p.His938=)
c.2664C= (p.His888=)
c.3000C= (p.His1000=)
19g.13298831G>TCA404342684CACNA1Ac.2802C>A (p.His934Gln)
c.2808C>A (p.His936Gln)
c.2805C>A (p.His935Gln)
c.2814C>A (p.His938Gln)
c.2664C>A (p.His888Gln)
c.3000C>A (p.His1000Gln)
gnomAD v3 gnomAD v4
19g.13298832T>ACA404342687CACNA1Ac.2801A>T (p.His934Leu)
c.2807A>T (p.His936Leu)
c.2804A>T (p.His935Leu)
c.2813A>T (p.His938Leu)
c.2663A>T (p.His888Leu)
c.2999A>T (p.His1000Leu)
19g.13298832T>CCA404342686CACNA1Ac.2801A>G (p.His934Arg)
c.2807A>G (p.His936Arg)
c.2804A>G (p.His935Arg)
c.2813A>G (p.His938Arg)
c.2663A>G (p.His888Arg)
c.2999A>G (p.His1000Arg)
ClinVar
19g.13298832T>GCA404342685CACNA1Ac.2801A>C (p.His934Pro)
c.2807A>C (p.His936Pro)
c.2804A>C (p.His935Pro)
c.2813A>C (p.His938Pro)
c.2663A>C (p.His888Pro)
c.2999A>C (p.His1000Pro)
19g.13298833G>ACA404342688CACNA1Ac.2800C>T (p.His934Tyr)
c.2806C>T (p.His936Tyr)
c.2803C>T (p.His935Tyr)
c.2812C>T (p.His938Tyr)
c.2662C>T (p.His888Tyr)
c.2998C>T (p.His1000Tyr)
gnomAD v4
19g.13298833G>CCA404342689CACNA1Ac.2800C>G (p.His934Asp)
c.2806C>G (p.His936Asp)
c.2803C>G (p.His935Asp)
c.2812C>G (p.His938Asp)
c.2662C>G (p.His888Asp)
c.2998C>G (p.His1000Asp)
19g.13298833G>TCA404342690CACNA1Ac.2800C>A (p.His934Asn)
c.2806C>A (p.His936Asn)
c.2803C>A (p.His935Asn)
c.2812C>A (p.His938Asn)
c.2662C>A (p.His888Asn)
c.2998C>A (p.His1000Asn)
19g.13298834C>ACA505784992CACNA1Ac.2799G>T (p.Val933=)
c.2805G>T (p.Val935=)
c.2802G>T (p.Val934=)
c.2811G>T (p.Val937=)
c.2661G>T (p.Val887=)
c.2997G>T (p.Val999=)
gnomAD v4
19g.13298834C=CA2323825774CACNA1Ac.2799G= (p.Val933=)
c.2805G= (p.Val935=)
c.2802G= (p.Val934=)
c.2811G= (p.Val937=)
c.2661G= (p.Val887=)
c.2997G= (p.Val999=)
19g.13298834C>GCA505784996CACNA1Ac.2799G>C (p.Val933=)
c.2805G>C (p.Val935=)
c.2802G>C (p.Val934=)
c.2811G>C (p.Val937=)
c.2661G>C (p.Val887=)
c.2997G>C (p.Val999=)
19g.13298834C>TCA9240475CACNA1Ac.2799G>A (p.Val933=)
c.2805G>A (p.Val935=)
c.2802G>A (p.Val934=)
c.2811G>A (p.Val937=)
c.2661G>A (p.Val887=)
c.2997G>A (p.Val999=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298835A>CCA404342691CACNA1Ac.2798T>G (p.Val933Gly)
c.2804T>G (p.Val935Gly)
c.2801T>G (p.Val934Gly)
c.2810T>G (p.Val937Gly)
c.2660T>G (p.Val887Gly)
c.2996T>G (p.Val999Gly)
19g.13298835A>GCA404342692CACNA1Ac.2798T>C (p.Val933Ala)
c.2804T>C (p.Val935Ala)
c.2801T>C (p.Val934Ala)
c.2810T>C (p.Val937Ala)
c.2660T>C (p.Val887Ala)
c.2996T>C (p.Val999Ala)
19g.13298835A>TCA404342693CACNA1Ac.2798T>A (p.Val933Glu)
c.2804T>A (p.Val935Glu)
c.2801T>A (p.Val934Glu)
c.2810T>A (p.Val937Glu)
c.2660T>A (p.Val887Glu)
c.2996T>A (p.Val999Glu)
19g.13298836C>ACA404342694CACNA1Ac.2797G>T (p.Val933Leu)
c.2803G>T (p.Val935Leu)
c.2800G>T (p.Val934Leu)
c.2809G>T (p.Val937Leu)
c.2659G>T (p.Val887Leu)
c.2995G>T (p.Val999Leu)
19g.13298836C=CA2323825776CACNA1Ac.2797G= (p.Val933=)
c.2803G= (p.Val935=)
c.2800G= (p.Val934=)
c.2809G= (p.Val937=)
c.2659G= (p.Val887=)
c.2995G= (p.Val999=)
19g.13298836C>GCA404342695CACNA1Ac.2797G>C (p.Val933Leu)
c.2803G>C (p.Val935Leu)
c.2800G>C (p.Val934Leu)
c.2809G>C (p.Val937Leu)
c.2659G>C (p.Val887Leu)
c.2995G>C (p.Val999Leu)
19g.13298836C>TCA9240476CACNA1Ac.2797G>A (p.Val933Met)
c.2803G>A (p.Val935Met)
c.2800G>A (p.Val934Met)
c.2809G>A (p.Val937Met)
c.2659G>A (p.Val887Met)
c.2995G>A (p.Val999Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298837G>ACA9240478CACNA1Ac.2796C>T (p.His932=)
c.2802C>T (p.His934=)
c.2799C>T (p.His933=)
c.2808C>T (p.His936=)
c.2658C>T (p.His886=)
c.2994C>T (p.His998=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298837G>CCA404342696CACNA1Ac.2796C>G (p.His932Gln)
c.2802C>G (p.His934Gln)
c.2799C>G (p.His933Gln)
c.2808C>G (p.His936Gln)
c.2658C>G (p.His886Gln)
c.2994C>G (p.His998Gln)
gnomAD v4
19g.13298837G=CA2323825779CACNA1Ac.2796C= (p.His932=)
c.2802C= (p.His934=)
c.2799C= (p.His933=)
c.2808C= (p.His936=)
c.2658C= (p.His886=)
c.2994C= (p.His998=)
19g.13298837G>TCA9240477CACNA1Ac.2796C>A (p.His932Gln)
c.2802C>A (p.His934Gln)
c.2799C>A (p.His933Gln)
c.2808C>A (p.His936Gln)
c.2658C>A (p.His886Gln)
c.2994C>A (p.His998Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298838T>ACA404342697CACNA1Ac.2795A>T (p.His932Leu)
c.2801A>T (p.His934Leu)
c.2798A>T (p.His933Leu)
c.2807A>T (p.His936Leu)
c.2657A>T (p.His886Leu)
c.2993A>T (p.His998Leu)
dbSNP gnomAD v2 gnomAD v4
19g.13298838T>CCA404342699CACNA1Ac.2795A>G (p.His932Arg)
c.2801A>G (p.His934Arg)
c.2798A>G (p.His933Arg)
c.2807A>G (p.His936Arg)
c.2657A>G (p.His886Arg)
c.2993A>G (p.His998Arg)
19g.13298838T>GCA404342698CACNA1Ac.2795A>C (p.His932Pro)
c.2801A>C (p.His934Pro)
c.2798A>C (p.His933Pro)
c.2807A>C (p.His936Pro)
c.2657A>C (p.His886Pro)
c.2993A>C (p.His998Pro)
19g.13298838T=CA2323825781CACNA1Ac.2795A= (p.His932=)
c.2801A= (p.His934=)
c.2798A= (p.His933=)
c.2807A= (p.His936=)
c.2657A= (p.His886=)
c.2993A= (p.His998=)
19g.13298839G>ACA404342700CACNA1Ac.2794C>T (p.His932Tyr)
c.2800C>T (p.His934Tyr)
c.2797C>T (p.His933Tyr)
c.2806C>T (p.His936Tyr)
c.2656C>T (p.His886Tyr)
c.2992C>T (p.His998Tyr)
gnomAD v4
19g.13298839G>CCA404342701CACNA1Ac.2794C>G (p.His932Asp)
c.2800C>G (p.His934Asp)
c.2797C>G (p.His933Asp)
c.2806C>G (p.His936Asp)
c.2656C>G (p.His886Asp)
c.2992C>G (p.His998Asp)
19g.13298839G>TCA404342702CACNA1Ac.2794C>A (p.His932Asn)
c.2800C>A (p.His934Asn)
c.2797C>A (p.His933Asn)
c.2806C>A (p.His936Asn)
c.2656C>A (p.His886Asn)
c.2992C>A (p.His998Asn)
19g.13298840C>ACA404342703CACNA1Ac.2793G>T (p.Arg931Ser)
c.2799G>T (p.Arg933Ser)
c.2796G>T (p.Arg932Ser)
c.2805G>T (p.Arg935Ser)
c.2655G>T (p.Arg885Ser)
c.2991G>T (p.Arg997Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298840C=CA2323825782CACNA1Ac.2793G= (p.Arg931=)
c.2799G= (p.Arg933=)
c.2796G= (p.Arg932=)
c.2805G= (p.Arg935=)
c.2655G= (p.Arg885=)
c.2991G= (p.Arg997=)
19g.13298840C>GCA404342704CACNA1Ac.2793G>C (p.Arg931Ser)
c.2799G>C (p.Arg933Ser)
c.2796G>C (p.Arg932Ser)
c.2805G>C (p.Arg935Ser)
c.2655G>C (p.Arg885Ser)
c.2991G>C (p.Arg997Ser)
19g.13298840C>TCA505785012CACNA1Ac.2793G>A (p.Arg931=)
c.2799G>A (p.Arg933=)
c.2796G>A (p.Arg932=)
c.2805G>A (p.Arg935=)
c.2655G>A (p.Arg885=)
c.2991G>A (p.Arg997=)
gnomAD v4
19g.13298841C>ACA404342705CACNA1Ac.2792G>T (p.Arg931Met)
c.2798G>T (p.Arg933Met)
c.2795G>T (p.Arg932Met)
c.2804G>T (p.Arg935Met)
c.2654G>T (p.Arg885Met)
c.2990G>T (p.Arg997Met)
gnomAD v4
19g.13298841C>GCA404342706CACNA1Ac.2792G>C (p.Arg931Thr)
c.2798G>C (p.Arg933Thr)
c.2795G>C (p.Arg932Thr)
c.2804G>C (p.Arg935Thr)
c.2654G>C (p.Arg885Thr)
c.2990G>C (p.Arg997Thr)
19g.13298841C>TCA404342707CACNA1Ac.2792G>A (p.Arg931Lys)
c.2798G>A (p.Arg933Lys)
c.2795G>A (p.Arg932Lys)
c.2804G>A (p.Arg935Lys)
c.2654G>A (p.Arg885Lys)
c.2990G>A (p.Arg997Lys)
19g.13298842T>ACA404342708CACNA1Ac.2791A>T (p.Arg931Trp)
c.2797A>T (p.Arg933Trp)
c.2794A>T (p.Arg932Trp)
c.2803A>T (p.Arg935Trp)
c.2653A>T (p.Arg885Trp)
c.2989A>T (p.Arg997Trp)
19g.13298842T>CCA404342709CACNA1Ac.2791A>G (p.Arg931Gly)
c.2797A>G (p.Arg933Gly)
c.2794A>G (p.Arg932Gly)
c.2803A>G (p.Arg935Gly)
c.2653A>G (p.Arg885Gly)
c.2989A>G (p.Arg997Gly)
gnomAD v4
19g.13298842T>GCA505785019CACNA1Ac.2791A>C (p.Arg931=)
c.2797A>C (p.Arg933=)
c.2794A>C (p.Arg932=)
c.2803A>C (p.Arg935=)
c.2653A>C (p.Arg885=)
c.2989A>C (p.Arg997=)
dbSNP gnomAD v2
19g.13298842T=CA2323825784CACNA1Ac.2791A= (p.Arg931=)
c.2797A= (p.Arg933=)
c.2794A= (p.Arg932=)
c.2803A= (p.Arg935=)
c.2653A= (p.Arg885=)
c.2989A= (p.Arg997=)
19g.13298843C>ACA505785022CACNA1Ac.2790G>T (p.Arg930=)
c.2796G>T (p.Arg932=)
c.2793G>T (p.Arg931=)
c.2802G>T (p.Arg934=)
c.2652G>T (p.Arg884=)
c.2988G>T (p.Arg996=)
gnomAD v4
19g.13298843C=CA2323825786CACNA1Ac.2790G= (p.Arg930=)
c.2796G= (p.Arg932=)
c.2793G= (p.Arg931=)
c.2802G= (p.Arg934=)
c.2652G= (p.Arg884=)
c.2988G= (p.Arg996=)
19g.13298843C>GCA505785023CACNA1Ac.2790G>C (p.Arg930=)
c.2796G>C (p.Arg932=)
c.2793G>C (p.Arg931=)
c.2802G>C (p.Arg934=)
c.2652G>C (p.Arg884=)
c.2988G>C (p.Arg996=)
dbSNP
19g.13298843C>TCA505785024CACNA1Ac.2790G>A (p.Arg930=)
c.2796G>A (p.Arg932=)
c.2793G>A (p.Arg931=)
c.2802G>A (p.Arg934=)
c.2652G>A (p.Arg884=)
c.2988G>A (p.Arg996=)
19g.13298844C>ACA404342710CACNA1Ac.2789G>T (p.Arg930Leu)
c.2795G>T (p.Arg932Leu)
c.2792G>T (p.Arg931Leu)
c.2801G>T (p.Arg934Leu)
c.2651G>T (p.Arg884Leu)
c.2987G>T (p.Arg996Leu)
19g.13298844C=CA2323825787CACNA1Ac.2789G= (p.Arg930=)
c.2795G= (p.Arg932=)
c.2792G= (p.Arg931=)
c.2801G= (p.Arg934=)
c.2651G= (p.Arg884=)
c.2987G= (p.Arg996=)
19g.13298844C>GCA404342711CACNA1Ac.2789G>C (p.Arg930Pro)
c.2795G>C (p.Arg932Pro)
c.2792G>C (p.Arg931Pro)
c.2801G>C (p.Arg934Pro)
c.2651G>C (p.Arg884Pro)
c.2987G>C (p.Arg996Pro)
ClinVar dbSNP gnomAD v4
19g.13298844C>TCA9240479CACNA1Ac.2789G>A (p.Arg930Gln)
c.2795G>A (p.Arg932Gln)
c.2792G>A (p.Arg931Gln)
c.2801G>A (p.Arg934Gln)
c.2651G>A (p.Arg884Gln)
c.2987G>A (p.Arg996Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298845G>ACA9240480CACNA1Ac.2788C>T (p.Arg930Trp)
c.2794C>T (p.Arg932Trp)
c.2791C>T (p.Arg931Trp)
c.2800C>T (p.Arg934Trp)
c.2650C>T (p.Arg884Trp)
c.2986C>T (p.Arg996Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298845G>CCA404342712CACNA1Ac.2788C>G (p.Arg930Gly)
c.2794C>G (p.Arg932Gly)
c.2791C>G (p.Arg931Gly)
c.2800C>G (p.Arg934Gly)
c.2650C>G (p.Arg884Gly)
c.2986C>G (p.Arg996Gly)
19g.13298845G=CA2323825789CACNA1Ac.2788C= (p.Arg930=)
c.2794C= (p.Arg932=)
c.2791C= (p.Arg931=)
c.2800C= (p.Arg934=)
c.2650C= (p.Arg884=)
c.2986C= (p.Arg996=)
19g.13298845G>TCA505785032CACNA1Ac.2788C>A (p.Arg930=)
c.2794C>A (p.Arg932=)
c.2791C>A (p.Arg931=)
c.2800C>A (p.Arg934=)
c.2650C>A (p.Arg884=)
c.2986C>A (p.Arg996=)
19g.13298846G>ACA505785034CACNA1Ac.2787C>T (p.His929=)
c.2793C>T (p.His931=)
c.2790C>T (p.His930=)
c.2799C>T (p.His933=)
c.2649C>T (p.His883=)
c.2985C>T (p.His995=)
ClinVar dbSNP
19g.13298846G>CCA404342713CACNA1Ac.2787C>G (p.His929Gln)
c.2793C>G (p.His931Gln)
c.2790C>G (p.His930Gln)
c.2799C>G (p.His933Gln)
c.2649C>G (p.His883Gln)
c.2985C>G (p.His995Gln)
19g.13298846G=CA2323825791CACNA1Ac.2787C= (p.His929=)
c.2793C= (p.His931=)
c.2790C= (p.His930=)
c.2799C= (p.His933=)
c.2649C= (p.His883=)
c.2985C= (p.His995=)
19g.13298846G>TCA404342714CACNA1Ac.2787C>A (p.His929Gln)
c.2793C>A (p.His931Gln)
c.2790C>A (p.His930Gln)
c.2799C>A (p.His933Gln)
c.2649C>A (p.His883Gln)
c.2985C>A (p.His995Gln)
19g.13298847T>ACA404342715CACNA1Ac.2786A>T (p.His929Leu)
c.2792A>T (p.His931Leu)
c.2789A>T (p.His930Leu)
c.2798A>T (p.His933Leu)
c.2648A>T (p.His883Leu)
c.2984A>T (p.His995Leu)
gnomAD v4
19g.13298847T>CCA404342716CACNA1Ac.2786A>G (p.His929Arg)
c.2792A>G (p.His931Arg)
c.2789A>G (p.His930Arg)
c.2798A>G (p.His933Arg)
c.2648A>G (p.His883Arg)
c.2984A>G (p.His995Arg)
dbSNP gnomAD v2 gnomAD v4
19g.13298847T>GCA404342717CACNA1Ac.2786A>C (p.His929Pro)
c.2792A>C (p.His931Pro)
c.2789A>C (p.His930Pro)
c.2798A>C (p.His933Pro)
c.2648A>C (p.His883Pro)
c.2984A>C (p.His995Pro)
19g.13298847T=CA2323825794CACNA1Ac.2786A= (p.His929=)
c.2792A= (p.His931=)
c.2789A= (p.His930=)
c.2798A= (p.His933=)
c.2648A= (p.His883=)
c.2984A= (p.His995=)
19g.13298847_13298848insACA658799159CACNA1Ac.2785_2786insT (p.His929LeufsTer?)
c.2791_2792insT (p.His931LeufsTer?)
c.2788_2789insT (p.His930LeufsTer?)
c.2797_2798insT (p.His933LeufsTer?)
c.2647_2648insT (p.His883LeufsTer?)
c.2983_2984insT (p.His995LeufsTer?)
ClinVar dbSNP
19g.13298848G>ACA404342718CACNA1Ac.2785C>T (p.His929Tyr)
c.2791C>T (p.His931Tyr)
c.2788C>T (p.His930Tyr)
c.2797C>T (p.His933Tyr)
c.2647C>T (p.His883Tyr)
c.2983C>T (p.His995Tyr)
19g.13298848G>CCA404342719CACNA1Ac.2785C>G (p.His929Asp)
c.2791C>G (p.His931Asp)
c.2788C>G (p.His930Asp)
c.2797C>G (p.His933Asp)
c.2647C>G (p.His883Asp)
c.2983C>G (p.His995Asp)
19g.13298848G>TCA404342720CACNA1Ac.2785C>A (p.His929Asn)
c.2791C>A (p.His931Asn)
c.2788C>A (p.His930Asn)
c.2797C>A (p.His933Asn)
c.2647C>A (p.His883Asn)
c.2983C>A (p.His995Asn)
gnomAD v4
19g.13298852delCA2582833356CACNA1Ac.2785del (p.His929ThrfsTer?)
c.2791del (p.His931ThrfsTer?)
c.2788del (p.His930ThrfsTer?)
c.2797del (p.His933ThrfsTer?)
c.2647del (p.His883ThrfsTer?)
c.2983del (p.His995ThrfsTer?)
gnomAD v4
19g.13298849G>ACA505785039CACNA1Ac.2784C>T (p.Pro928=)
c.2790C>T (p.Pro930=)
c.2787C>T (p.Pro929=)
c.2796C>T (p.Pro932=)
c.2646C>T (p.Pro882=)
c.2982C>T (p.Pro994=)
19g.13298849G>CCA505785040CACNA1Ac.2784C>G (p.Pro928=)
c.2790C>G (p.Pro930=)
c.2787C>G (p.Pro929=)
c.2796C>G (p.Pro932=)
c.2646C>G (p.Pro882=)
c.2982C>G (p.Pro994=)
ClinVar dbSNP
19g.13298849G>TCA505785041CACNA1Ac.2784C>A (p.Pro928=)
c.2790C>A (p.Pro930=)
c.2787C>A (p.Pro929=)
c.2796C>A (p.Pro932=)
c.2646C>A (p.Pro882=)
c.2982C>A (p.Pro994=)
gnomAD v4
19g.13298850G>ACA9240481CACNA1Ac.2783C>T (p.Pro928Leu)
c.2789C>T (p.Pro930Leu)
c.2786C>T (p.Pro929Leu)
c.2795C>T (p.Pro932Leu)
c.2645C>T (p.Pro882Leu)
c.2981C>T (p.Pro994Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298850G>CCA404342721CACNA1Ac.2783C>G (p.Pro928Arg)
c.2789C>G (p.Pro930Arg)
c.2786C>G (p.Pro929Arg)
c.2795C>G (p.Pro932Arg)
c.2645C>G (p.Pro882Arg)
c.2981C>G (p.Pro994Arg)
gnomAD v4
19g.13298850G=CA2323825797CACNA1Ac.2783C= (p.Pro928=)
c.2789C= (p.Pro930=)
c.2786C= (p.Pro929=)
c.2795C= (p.Pro932=)
c.2645C= (p.Pro882=)
c.2981C= (p.Pro994=)
19g.13298850G>TCA404342722CACNA1Ac.2783C>A (p.Pro928His)
c.2789C>A (p.Pro930His)
c.2786C>A (p.Pro929His)
c.2795C>A (p.Pro932His)
c.2645C>A (p.Pro882His)
c.2981C>A (p.Pro994His)
gnomAD v4
19g.13298851G>ACA404342725CACNA1Ac.2782C>T (p.Pro928Ser)
c.2788C>T (p.Pro930Ser)
c.2785C>T (p.Pro929Ser)
c.2794C>T (p.Pro932Ser)
c.2644C>T (p.Pro882Ser)
c.2980C>T (p.Pro994Ser)
gnomAD v4
19g.13298851G>CCA404342724CACNA1Ac.2782C>G (p.Pro928Ala)
c.2788C>G (p.Pro930Ala)
c.2785C>G (p.Pro929Ala)
c.2794C>G (p.Pro932Ala)
c.2644C>G (p.Pro882Ala)
c.2980C>G (p.Pro994Ala)
19g.13298851G>TCA404342723CACNA1Ac.2782C>A (p.Pro928Thr)
c.2788C>A (p.Pro930Thr)
c.2785C>A (p.Pro929Thr)
c.2794C>A (p.Pro932Thr)
c.2644C>A (p.Pro882Thr)
c.2980C>A (p.Pro994Thr)
gnomAD v4
19g.13298852G>ACA505785047CACNA1Ac.2781C>T (p.Asp927=)
c.2787C>T (p.Asp929=)
c.2784C>T (p.Asp928=)
c.2793C>T (p.Asp931=)
c.2643C>T (p.Asp881=)
c.2979C>T (p.Asp993=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.13298852G>CCA404342726CACNA1Ac.2781C>G (p.Asp927Glu)
c.2787C>G (p.Asp929Glu)
c.2784C>G (p.Asp928Glu)
c.2793C>G (p.Asp931Glu)
c.2643C>G (p.Asp881Glu)
c.2979C>G (p.Asp993Glu)
19g.13298852G=CA2323825799CACNA1Ac.2781C= (p.Asp927=)
c.2787C= (p.Asp929=)
c.2784C= (p.Asp928=)
c.2793C= (p.Asp931=)
c.2643C= (p.Asp881=)
c.2979C= (p.Asp993=)
19g.13298852G>TCA404342727CACNA1Ac.2781C>A (p.Asp927Glu)
c.2787C>A (p.Asp929Glu)
c.2784C>A (p.Asp928Glu)
c.2793C>A (p.Asp931Glu)
c.2643C>A (p.Asp881Glu)
c.2979C>A (p.Asp993Glu)
19g.13298853T>ACA404342728CACNA1Ac.2780A>T (p.Asp927Val)
c.2786A>T (p.Asp929Val)
c.2783A>T (p.Asp928Val)
c.2792A>T (p.Asp931Val)
c.2642A>T (p.Asp881Val)
c.2978A>T (p.Asp993Val)
19g.13298853T>CCA404342729CACNA1Ac.2780A>G (p.Asp927Gly)
c.2786A>G (p.Asp929Gly)
c.2783A>G (p.Asp928Gly)
c.2792A>G (p.Asp931Gly)
c.2642A>G (p.Asp881Gly)
c.2978A>G (p.Asp993Gly)
gnomAD v4
19g.13298853T>GCA404342730CACNA1Ac.2780A>C (p.Asp927Ala)
c.2786A>C (p.Asp929Ala)
c.2783A>C (p.Asp928Ala)
c.2792A>C (p.Asp931Ala)
c.2642A>C (p.Asp881Ala)
c.2978A>C (p.Asp993Ala)
19g.13298854C>ACA404342731CACNA1Ac.2779G>T (p.Asp927Tyr)
c.2785G>T (p.Asp929Tyr)
c.2782G>T (p.Asp928Tyr)
c.2791G>T (p.Asp931Tyr)
c.2641G>T (p.Asp881Tyr)
c.2977G>T (p.Asp993Tyr)
19g.13298854C=CA2323825801CACNA1Ac.2779G= (p.Asp927=)
c.2785G= (p.Asp929=)
c.2782G= (p.Asp928=)
c.2791G= (p.Asp931=)
c.2641G= (p.Asp881=)
c.2977G= (p.Asp993=)
19g.13298854C>GCA404342732CACNA1Ac.2779G>C (p.Asp927His)
c.2785G>C (p.Asp929His)
c.2782G>C (p.Asp928His)
c.2791G>C (p.Asp931His)
c.2641G>C (p.Asp881His)
c.2977G>C (p.Asp993His)
gnomAD v4
19g.13298854C>TCA404342733CACNA1Ac.2779G>A (p.Asp927Asn)
c.2785G>A (p.Asp929Asn)
c.2782G>A (p.Asp928Asn)
c.2791G>A (p.Asp931Asn)
c.2641G>A (p.Asp881Asn)
c.2977G>A (p.Asp993Asn)
dbSNP gnomAD v2 gnomAD v4
19g.13298857delCA2582833357CACNA1Ac.2779del (p.Asp927ThrfsTer?)
c.2785del (p.Asp929ThrfsTer?)
c.2782del (p.Asp928ThrfsTer?)
c.2791del (p.Asp931ThrfsTer?)
c.2641del (p.Asp881ThrfsTer?)
c.2977del (p.Asp993ThrfsTer?)
ClinVar gnomAD v4
19g.13298855C>ACA505785054CACNA1Ac.2778G>T (p.Gly926=)
c.2784G>T (p.Gly928=)
c.2781G>T (p.Gly927=)
c.2790G>T (p.Gly930=)
c.2640G>T (p.Gly880=)
c.2976G>T (p.Gly992=)
gnomAD v4
19g.13298855C=CA2323825803CACNA1Ac.2778G= (p.Gly926=)
c.2784G= (p.Gly928=)
c.2781G= (p.Gly927=)
c.2790G= (p.Gly930=)
c.2640G= (p.Gly880=)
c.2976G= (p.Gly992=)
19g.13298855C>GCA505785055CACNA1Ac.2778G>C (p.Gly926=)
c.2784G>C (p.Gly928=)
c.2781G>C (p.Gly927=)
c.2790G>C (p.Gly930=)
c.2640G>C (p.Gly880=)
c.2976G>C (p.Gly992=)
19g.13298855C>TCA305506354CACNA1Ac.2778G>A (p.Gly926=)
c.2784G>A (p.Gly928=)
c.2781G>A (p.Gly927=)
c.2790G>A (p.Gly930=)
c.2640G>A (p.Gly880=)
c.2976G>A (p.Gly992=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298856C>ACA404342734CACNA1Ac.2777G>T (p.Gly926Val)
c.2783G>T (p.Gly928Val)
c.2780G>T (p.Gly927Val)
c.2789G>T (p.Gly930Val)
c.2639G>T (p.Gly880Val)
c.2975G>T (p.Gly992Val)
gnomAD v4
19g.13298856C>GCA404342735CACNA1Ac.2777G>C (p.Gly926Ala)
c.2783G>C (p.Gly928Ala)
c.2780G>C (p.Gly927Ala)
c.2789G>C (p.Gly930Ala)
c.2639G>C (p.Gly880Ala)
c.2975G>C (p.Gly992Ala)
19g.13298856C>TCA404342736CACNA1Ac.2777G>A (p.Gly926Glu)
c.2783G>A (p.Gly928Glu)
c.2780G>A (p.Gly927Glu)
c.2789G>A (p.Gly930Glu)
c.2639G>A (p.Gly880Glu)
c.2975G>A (p.Gly992Glu)
gnomAD v4 COSMIC COSMIC COSMIC
19g.13298857C>ACA404342737CACNA1Ac.2776G>T (p.Gly926Trp)
c.2782G>T (p.Gly928Trp)
c.2779G>T (p.Gly927Trp)
c.2788G>T (p.Gly930Trp)
c.2638G>T (p.Gly880Trp)
c.2974G>T (p.Gly992Trp)
gnomAD v4
19g.13298857C=CA2323825805CACNA1Ac.2776G= (p.Gly926=)
c.2782G= (p.Gly928=)
c.2779G= (p.Gly927=)
c.2788G= (p.Gly930=)
c.2638G= (p.Gly880=)
c.2974G= (p.Gly992=)
19g.13298857C>GCA404342738CACNA1Ac.2776G>C (p.Gly926Arg)
c.2782G>C (p.Gly928Arg)
c.2779G>C (p.Gly927Arg)
c.2788G>C (p.Gly930Arg)
c.2638G>C (p.Gly880Arg)
c.2974G>C (p.Gly992Arg)
gnomAD v4
19g.13298857C>TCA404342739CACNA1Ac.2776G>A (p.Gly926Arg)
c.2782G>A (p.Gly928Arg)
c.2779G>A (p.Gly927Arg)
c.2788G>A (p.Gly930Arg)
c.2638G>A (p.Gly880Arg)
c.2974G>A (p.Gly992Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298858G>ACA505785062CACNA1Ac.2775C>T (p.Ala925=)
c.2781C>T (p.Ala927=)
c.2778C>T (p.Ala926=)
c.2787C>T (p.Ala929=)
c.2637C>T (p.Ala879=)
c.2973C>T (p.Ala991=)
gnomAD v4
19g.13298858G>CCA505785065CACNA1Ac.2775C>G (p.Ala925=)
c.2781C>G (p.Ala927=)
c.2778C>G (p.Ala926=)
c.2787C>G (p.Ala929=)
c.2637C>G (p.Ala879=)
c.2973C>G (p.Ala991=)
19g.13298858G>TCA505785063CACNA1Ac.2775C>A (p.Ala925=)
c.2781C>A (p.Ala927=)
c.2778C>A (p.Ala926=)
c.2787C>A (p.Ala929=)
c.2637C>A (p.Ala879=)
c.2973C>A (p.Ala991=)
gnomAD v4
19g.13298859G>ACA9240482CACNA1Ac.2774C>T (p.Ala925Val)
c.2780C>T (p.Ala927Val)
c.2777C>T (p.Ala926Val)
c.2786C>T (p.Ala929Val)
c.2636C>T (p.Ala879Val)
c.2972C>T (p.Ala991Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298859G>CCA404342741CACNA1Ac.2774C>G (p.Ala925Gly)
c.2780C>G (p.Ala927Gly)
c.2777C>G (p.Ala926Gly)
c.2786C>G (p.Ala929Gly)
c.2636C>G (p.Ala879Gly)
c.2972C>G (p.Ala991Gly)
19g.13298859G=CA2323825806CACNA1Ac.2774C= (p.Ala925=)
c.2780C= (p.Ala927=)
c.2777C= (p.Ala926=)
c.2786C= (p.Ala929=)
c.2636C= (p.Ala879=)
c.2972C= (p.Ala991=)
19g.13298859G>TCA404342740CACNA1Ac.2774C>A (p.Ala925Asp)
c.2780C>A (p.Ala927Asp)
c.2777C>A (p.Ala926Asp)
c.2786C>A (p.Ala929Asp)
c.2636C>A (p.Ala879Asp)
c.2972C>A (p.Ala991Asp)
gnomAD v4
19g.13298860C>ACA404342742CACNA1Ac.2773G>T (p.Ala925Ser)
c.2779G>T (p.Ala927Ser)
c.2776G>T (p.Ala926Ser)
c.2785G>T (p.Ala929Ser)
c.2635G>T (p.Ala879Ser)
c.2971G>T (p.Ala991Ser)
gnomAD v4
19g.13298860C>GCA404342743CACNA1Ac.2773G>C (p.Ala925Pro)
c.2779G>C (p.Ala927Pro)
c.2776G>C (p.Ala926Pro)
c.2785G>C (p.Ala929Pro)
c.2635G>C (p.Ala879Pro)
c.2971G>C (p.Ala991Pro)
19g.13298860C>TCA404342744CACNA1Ac.2773G>A (p.Ala925Thr)
c.2779G>A (p.Ala927Thr)
c.2776G>A (p.Ala926Thr)
c.2785G>A (p.Ala929Thr)
c.2635G>A (p.Ala879Thr)
c.2971G>A (p.Ala991Thr)
ClinVar dbSNP
19g.13298861C>ACA404342745CACNA1Ac.2772G>T (p.Lys924Asn)
c.2778G>T (p.Lys926Asn)
c.2775G>T (p.Lys925Asn)
c.2784G>T (p.Lys928Asn)
c.2634G>T (p.Lys878Asn)
c.2970G>T (p.Lys990Asn)
gnomAD v4
19g.13298861C>GCA404342746CACNA1Ac.2772G>C (p.Lys924Asn)
c.2778G>C (p.Lys926Asn)
c.2775G>C (p.Lys925Asn)
c.2784G>C (p.Lys928Asn)
c.2634G>C (p.Lys878Asn)
c.2970G>C (p.Lys990Asn)
gnomAD v4
19g.13298861C>TCA505785074CACNA1Ac.2772G>A (p.Lys924=)
c.2778G>A (p.Lys926=)
c.2775G>A (p.Lys925=)
c.2784G>A (p.Lys928=)
c.2634G>A (p.Lys878=)
c.2970G>A (p.Lys990=)
dbSNP
19g.13298862T>ACA404342749CACNA1Ac.2771A>T (p.Lys924Met)
c.2777A>T (p.Lys926Met)
c.2774A>T (p.Lys925Met)
c.2783A>T (p.Lys928Met)
c.2633A>T (p.Lys878Met)
c.2969A>T (p.Lys990Met)
19g.13298862T>CCA404342748CACNA1Ac.2771A>G (p.Lys924Arg)
c.2777A>G (p.Lys926Arg)
c.2774A>G (p.Lys925Arg)
c.2783A>G (p.Lys928Arg)
c.2633A>G (p.Lys878Arg)
c.2969A>G (p.Lys990Arg)
19g.13298862T>GCA404342747CACNA1Ac.2771A>C (p.Lys924Thr)
c.2777A>C (p.Lys926Thr)
c.2774A>C (p.Lys925Thr)
c.2783A>C (p.Lys928Thr)
c.2633A>C (p.Lys878Thr)
c.2969A>C (p.Lys990Thr)
19g.13298863T>ACA404342750CACNA1Ac.2770A>T (p.Lys924Ter)
c.2776A>T (p.Lys926Ter)
c.2773A>T (p.Lys925Ter)
c.2782A>T (p.Lys928Ter)
c.2632A>T (p.Lys878Ter)
c.2968A>T (p.Lys990Ter)
19g.13298863T>CCA404342751CACNA1Ac.2770A>G (p.Lys924Glu)
c.2776A>G (p.Lys926Glu)
c.2773A>G (p.Lys925Glu)
c.2782A>G (p.Lys928Glu)
c.2632A>G (p.Lys878Glu)
c.2968A>G (p.Lys990Glu)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298863T>GCA404342752CACNA1Ac.2770A>C (p.Lys924Gln)
c.2776A>C (p.Lys926Gln)
c.2773A>C (p.Lys925Gln)
c.2782A>C (p.Lys928Gln)
c.2632A>C (p.Lys878Gln)
c.2968A>C (p.Lys990Gln)
19g.13298863T=CA2323825809CACNA1Ac.2770A= (p.Lys924=)
c.2776A= (p.Lys926=)
c.2773A= (p.Lys925=)
c.2782A= (p.Lys928=)
c.2632A= (p.Lys878=)
c.2968A= (p.Lys990=)
19g.13298864G>ACA505785078CACNA1Ac.2769C>T (p.Gly923=)
c.2775C>T (p.Gly925=)
c.2772C>T (p.Gly924=)
c.2781C>T (p.Gly927=)
c.2631C>T (p.Gly877=)
c.2967C>T (p.Gly989=)
gnomAD v4
19g.13298864G>CCA505785079CACNA1Ac.2769C>G (p.Gly923=)
c.2775C>G (p.Gly925=)
c.2772C>G (p.Gly924=)
c.2781C>G (p.Gly927=)
c.2631C>G (p.Gly877=)
c.2967C>G (p.Gly989=)
dbSNP gnomAD v2 gnomAD v4
19g.13298864G=CA2323825812CACNA1Ac.2769C= (p.Gly923=)
c.2775C= (p.Gly925=)
c.2772C= (p.Gly924=)
c.2781C= (p.Gly927=)
c.2631C= (p.Gly877=)
c.2967C= (p.Gly989=)
19g.13298864G>TCA505785080CACNA1Ac.2769C>A (p.Gly923=)
c.2775C>A (p.Gly925=)
c.2772C>A (p.Gly924=)
c.2781C>A (p.Gly927=)
c.2631C>A (p.Gly877=)
c.2967C>A (p.Gly989=)
gnomAD v4
19g.13298867_13298881dupCA916082450CACNA1Ac.2755_2769dup (p.Gly923_Lys924insGluAlaGluArgGly)
c.2761_2775dup (p.Gly925_Lys926insGluAlaGluArgGly)
c.2758_2772dup (p.Gly924_Lys925insGluAlaGluArgGly)
c.2767_2781dup (p.Gly927_Lys928insGluAlaGluArgGly)
c.2617_2631dup (p.Gly877_Lys878insGluAlaGluArgGly)
c.2953_2967dup (p.Gly989_Lys990insGluAlaGluArgGly)
ClinVar dbSNP gnomAD v4
19g.13298865C>ACA404342753CACNA1Ac.2768G>T (p.Gly923Val)
c.2774G>T (p.Gly925Val)
c.2771G>T (p.Gly924Val)
c.2780G>T (p.Gly927Val)
c.2630G>T (p.Gly877Val)
c.2966G>T (p.Gly989Val)
gnomAD v4
19g.13298865C=CA2323825814CACNA1Ac.2768G= (p.Gly923=)
c.2774G= (p.Gly925=)
c.2771G= (p.Gly924=)
c.2780G= (p.Gly927=)
c.2630G= (p.Gly877=)
c.2966G= (p.Gly989=)
19g.13298865C>GCA404342754CACNA1Ac.2768G>C (p.Gly923Ala)
c.2774G>C (p.Gly925Ala)
c.2771G>C (p.Gly924Ala)
c.2780G>C (p.Gly927Ala)
c.2630G>C (p.Gly877Ala)
c.2966G>C (p.Gly989Ala)
dbSNP gnomAD v4
19g.13298865C>TCA404342755CACNA1Ac.2768G>A (p.Gly923Asp)
c.2774G>A (p.Gly925Asp)
c.2771G>A (p.Gly924Asp)
c.2780G>A (p.Gly927Asp)
c.2630G>A (p.Gly877Asp)
c.2966G>A (p.Gly989Asp)
gnomAD v4
19g.13298866C>ACA404342756CACNA1Ac.2767G>T (p.Gly923Cys)
c.2773G>T (p.Gly925Cys)
c.2770G>T (p.Gly924Cys)
c.2779G>T (p.Gly927Cys)
c.2629G>T (p.Gly877Cys)
c.2965G>T (p.Gly989Cys)
gnomAD v4
19g.13298866C=CA2323825816CACNA1Ac.2767G= (p.Gly923=)
c.2773G= (p.Gly925=)
c.2770G= (p.Gly924=)
c.2779G= (p.Gly927=)
c.2629G= (p.Gly877=)
c.2965G= (p.Gly989=)
19g.13298866C>GCA404342758CACNA1Ac.2767G>C (p.Gly923Arg)
c.2773G>C (p.Gly925Arg)
c.2770G>C (p.Gly924Arg)
c.2779G>C (p.Gly927Arg)
c.2629G>C (p.Gly877Arg)
c.2965G>C (p.Gly989Arg)
19g.13298866C>TCA404342757CACNA1Ac.2767G>A (p.Gly923Ser)
c.2773G>A (p.Gly925Ser)
c.2770G>A (p.Gly924Ser)
c.2779G>A (p.Gly927Ser)
c.2629G>A (p.Gly877Ser)
c.2965G>A (p.Gly989Ser)
dbSNP gnomAD v2 gnomAD v4
19g.13298867T>ACA505785235CACNA1Ac.2766A>T (p.Arg922=)
c.2772A>T (p.Arg924=)
c.2769A>T (p.Arg923=)
c.2778A>T (p.Arg926=)
c.2628A>T (p.Arg876=)
c.2964A>T (p.Arg988=)
19g.13298867T>CCA505785233CACNA1Ac.2766A>G (p.Arg922=)
c.2772A>G (p.Arg924=)
c.2769A>G (p.Arg923=)
c.2778A>G (p.Arg926=)
c.2628A>G (p.Arg876=)
c.2964A>G (p.Arg988=)
gnomAD v4
19g.13298867T>GCA505785234CACNA1Ac.2766A>C (p.Arg922=)
c.2772A>C (p.Arg924=)
c.2769A>C (p.Arg923=)
c.2778A>C (p.Arg926=)
c.2628A>C (p.Arg876=)
c.2964A>C (p.Arg988=)
19g.13298868C>ACA16620791CACNA1Ac.2765G>T (p.Arg922Leu)
c.2771G>T (p.Arg924Leu)
c.2768G>T (p.Arg923Leu)
c.2777G>T (p.Arg926Leu)
c.2627G>T (p.Arg876Leu)
c.2963G>T (p.Arg988Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298868C=CA2323825818CACNA1Ac.2765G= (p.Arg922=)
c.2771G= (p.Arg924=)
c.2768G= (p.Arg923=)
c.2777G= (p.Arg926=)
c.2627G= (p.Arg876=)
c.2963G= (p.Arg988=)
19g.13298868C>GCA404342759CACNA1Ac.2765G>C (p.Arg922Pro)
c.2771G>C (p.Arg924Pro)
c.2768G>C (p.Arg923Pro)
c.2777G>C (p.Arg926Pro)
c.2627G>C (p.Arg876Pro)
c.2963G>C (p.Arg988Pro)
dbSNP gnomAD v4
19g.13298868C>TCA9240483CACNA1Ac.2765G>A (p.Arg922Gln)
c.2771G>A (p.Arg924Gln)
c.2768G>A (p.Arg923Gln)
c.2777G>A (p.Arg926Gln)
c.2627G>A (p.Arg876Gln)
c.2963G>A (p.Arg988Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298869G>ACA404342760CACNA1Ac.2764C>T (p.Arg922Ter)
c.2770C>T (p.Arg924Ter)
c.2767C>T (p.Arg923Ter)
c.2776C>T (p.Arg926Ter)
c.2626C>T (p.Arg876Ter)
c.2962C>T (p.Arg988Ter)
ClinVar dbSNP gnomAD v4
19g.13298869G>CCA404342761CACNA1Ac.2764C>G (p.Arg922Gly)
c.2770C>G (p.Arg924Gly)
c.2767C>G (p.Arg923Gly)
c.2776C>G (p.Arg926Gly)
c.2626C>G (p.Arg876Gly)
c.2962C>G (p.Arg988Gly)
19g.13298869G>TCA505785237CACNA1Ac.2764C>A (p.Arg922=)
c.2770C>A (p.Arg924=)
c.2767C>A (p.Arg923=)
c.2776C>A (p.Arg926=)
c.2626C>A (p.Arg876=)
c.2962C>A (p.Arg988=)
gnomAD v4
19g.13298870C>ACA404342762CACNA1Ac.2763G>T (p.Glu921Asp)
c.2769G>T (p.Glu923Asp)
c.2766G>T (p.Glu922Asp)
c.2775G>T (p.Glu925Asp)
c.2625G>T (p.Glu875Asp)
c.2961G>T (p.Glu987Asp)
gnomAD v4
19g.13298870C>GCA404342763CACNA1Ac.2763G>C (p.Glu921Asp)
c.2769G>C (p.Glu923Asp)
c.2766G>C (p.Glu922Asp)
c.2775G>C (p.Glu925Asp)
c.2625G>C (p.Glu875Asp)
c.2961G>C (p.Glu987Asp)
19g.13298870C>TCA505785239CACNA1Ac.2763G>A (p.Glu921=)
c.2769G>A (p.Glu923=)
c.2766G>A (p.Glu922=)
c.2775G>A (p.Glu925=)
c.2625G>A (p.Glu875=)
c.2961G>A (p.Glu987=)
19g.13298871T>ACA404342764CACNA1Ac.2762A>T (p.Glu921Val)
c.2768A>T (p.Glu923Val)
c.2765A>T (p.Glu922Val)
c.2774A>T (p.Glu925Val)
c.2624A>T (p.Glu875Val)
c.2960A>T (p.Glu987Val)
19g.13298871T>CCA404342765CACNA1Ac.2762A>G (p.Glu921Gly)
c.2768A>G (p.Glu923Gly)
c.2765A>G (p.Glu922Gly)
c.2774A>G (p.Glu925Gly)
c.2624A>G (p.Glu875Gly)
c.2960A>G (p.Glu987Gly)
19g.13298871T>GCA404342766CACNA1Ac.2762A>C (p.Glu921Ala)
c.2768A>C (p.Glu923Ala)
c.2765A>C (p.Glu922Ala)
c.2774A>C (p.Glu925Ala)
c.2624A>C (p.Glu875Ala)
c.2960A>C (p.Glu987Ala)
19g.13298872C>ACA404342769CACNA1Ac.2761G>T (p.Glu921Ter)
c.2767G>T (p.Glu923Ter)
c.2764G>T (p.Glu922Ter)
c.2773G>T (p.Glu925Ter)
c.2623G>T (p.Glu875Ter)
c.2959G>T (p.Glu987Ter)
gnomAD v4
19g.13298872C=CA2323825821CACNA1Ac.2761G= (p.Glu921=)
c.2767G= (p.Glu923=)
c.2764G= (p.Glu922=)
c.2773G= (p.Glu925=)
c.2623G= (p.Glu875=)
c.2959G= (p.Glu987=)
19g.13298872C>GCA404342768CACNA1Ac.2761G>C (p.Glu921Gln)
c.2767G>C (p.Glu923Gln)
c.2764G>C (p.Glu922Gln)
c.2773G>C (p.Glu925Gln)
c.2623G>C (p.Glu875Gln)
c.2959G>C (p.Glu987Gln)
19g.13298872C>TCA404342767CACNA1Ac.2761G>A (p.Glu921Lys)
c.2767G>A (p.Glu923Lys)
c.2764G>A (p.Glu922Lys)
c.2773G>A (p.Glu925Lys)
c.2623G>A (p.Glu875Lys)
c.2959G>A (p.Glu987Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298873G>ACA505785244CACNA1Ac.2760C>T (p.Ala920=)
c.2766C>T (p.Ala922=)
c.2763C>T (p.Ala921=)
c.2772C>T (p.Ala924=)
c.2622C>T (p.Ala874=)
c.2958C>T (p.Ala986=)
gnomAD v4
19g.13298873G>CCA505785245CACNA1Ac.2760C>G (p.Ala920=)
c.2766C>G (p.Ala922=)
c.2763C>G (p.Ala921=)
c.2772C>G (p.Ala924=)
c.2622C>G (p.Ala874=)
c.2958C>G (p.Ala986=)
gnomAD v4
19g.13298873G>TCA505785246CACNA1Ac.2760C>A (p.Ala920=)
c.2766C>A (p.Ala922=)
c.2763C>A (p.Ala921=)
c.2772C>A (p.Ala924=)
c.2622C>A (p.Ala874=)
c.2958C>A (p.Ala986=)
gnomAD v4
19g.13298874G>ACA9240485CACNA1Ac.2759C>T (p.Ala920Val)
c.2765C>T (p.Ala922Val)
c.2762C>T (p.Ala921Val)
c.2771C>T (p.Ala924Val)
c.2621C>T (p.Ala874Val)
c.2957C>T (p.Ala986Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298874G>CCA9240484CACNA1Ac.2759C>G (p.Ala920Gly)
c.2765C>G (p.Ala922Gly)
c.2762C>G (p.Ala921Gly)
c.2771C>G (p.Ala924Gly)
c.2621C>G (p.Ala874Gly)
c.2957C>G (p.Ala986Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298874G=CA2323825823CACNA1Ac.2759C= (p.Ala920=)
c.2765C= (p.Ala922=)
c.2762C= (p.Ala921=)
c.2771C= (p.Ala924=)
c.2621C= (p.Ala874=)
c.2957C= (p.Ala986=)
19g.13298874G>TCA404342770CACNA1Ac.2759C>A (p.Ala920Asp)
c.2765C>A (p.Ala922Asp)
c.2762C>A (p.Ala921Asp)
c.2771C>A (p.Ala924Asp)
c.2621C>A (p.Ala874Asp)
c.2957C>A (p.Ala986Asp)
gnomAD v4
19g.13298875C>ACA404342771CACNA1Ac.2758G>T (p.Ala920Ser)
c.2764G>T (p.Ala922Ser)
c.2761G>T (p.Ala921Ser)
c.2770G>T (p.Ala924Ser)
c.2620G>T (p.Ala874Ser)
c.2956G>T (p.Ala986Ser)
gnomAD v4
19g.13298875C>GCA404342773CACNA1Ac.2758G>C (p.Ala920Pro)
c.2764G>C (p.Ala922Pro)
c.2761G>C (p.Ala921Pro)
c.2770G>C (p.Ala924Pro)
c.2620G>C (p.Ala874Pro)
c.2956G>C (p.Ala986Pro)
19g.13298875C>TCA404342772CACNA1Ac.2758G>A (p.Ala920Thr)
c.2764G>A (p.Ala922Thr)
c.2761G>A (p.Ala921Thr)
c.2770G>A (p.Ala924Thr)
c.2620G>A (p.Ala874Thr)
c.2956G>A (p.Ala986Thr)
gnomAD v4
19g.13298879_13298884dupCA2323825826CACNA1Ac.2753_2758dup (p.Glu919_Ala920insGlyGlu)
c.2759_2764dup (p.Glu921_Ala922insGlyGlu)
c.2756_2761dup (p.Glu920_Ala921insGlyGlu)
c.2765_2770dup (p.Glu923_Ala924insGlyGlu)
c.2615_2620dup (p.Glu873_Ala874insGlyGlu)
c.2951_2956dup (p.Glu985_Ala986insGlyGlu)
dbSNP
19g.13298876C>ACA404342774CACNA1Ac.2757G>T (p.Glu919Asp)
c.2763G>T (p.Glu921Asp)
c.2760G>T (p.Glu920Asp)
c.2769G>T (p.Glu923Asp)
c.2619G>T (p.Glu873Asp)
c.2955G>T (p.Glu985Asp)
19g.13298876C=CA2323825828CACNA1Ac.2757G= (p.Glu919=)
c.2763G= (p.Glu921=)
c.2760G= (p.Glu920=)
c.2769G= (p.Glu923=)
c.2619G= (p.Glu873=)
c.2955G= (p.Glu985=)
19g.13298876C>GCA9240487CACNA1Ac.2757G>C (p.Glu919Asp)
c.2763G>C (p.Glu921Asp)
c.2760G>C (p.Glu920Asp)
c.2769G>C (p.Glu923Asp)
c.2619G>C (p.Glu873Asp)
c.2955G>C (p.Glu985Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298876C>TCA9240486CACNA1Ac.2757G>A (p.Glu919=)
c.2763G>A (p.Glu921=)
c.2760G>A (p.Glu920=)
c.2769G>A (p.Glu923=)
c.2619G>A (p.Glu873=)
c.2955G>A (p.Glu985=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298877T>ACA404342775CACNA1Ac.2756A>T (p.Glu919Val)
c.2762A>T (p.Glu921Val)
c.2759A>T (p.Glu920Val)
c.2768A>T (p.Glu923Val)
c.2618A>T (p.Glu873Val)
c.2954A>T (p.Glu985Val)
19g.13298877T>CCA404342776CACNA1Ac.2756A>G (p.Glu919Gly)
c.2762A>G (p.Glu921Gly)
c.2759A>G (p.Glu920Gly)
c.2768A>G (p.Glu923Gly)
c.2618A>G (p.Glu873Gly)
c.2954A>G (p.Glu985Gly)
gnomAD v4
19g.13298877T>GCA404342777CACNA1Ac.2756A>C (p.Glu919Ala)
c.2762A>C (p.Glu921Ala)
c.2759A>C (p.Glu920Ala)
c.2768A>C (p.Glu923Ala)
c.2618A>C (p.Glu873Ala)
c.2954A>C (p.Glu985Ala)
19g.13298878C>ACA404342778CACNA1Ac.2755G>T (p.Glu919Ter)
c.2761G>T (p.Glu921Ter)
c.2758G>T (p.Glu920Ter)
c.2767G>T (p.Glu923Ter)
c.2617G>T (p.Glu873Ter)
c.2953G>T (p.Glu985Ter)
ClinVar dbSNP gnomAD v4
19g.13298878C=CA2323825830CACNA1Ac.2755G= (p.Glu919=)
c.2761G= (p.Glu921=)
c.2758G= (p.Glu920=)
c.2767G= (p.Glu923=)
c.2617G= (p.Glu873=)
c.2953G= (p.Glu985=)
19g.13298878C>GCA404342779CACNA1Ac.2755G>C (p.Glu919Gln)
c.2761G>C (p.Glu921Gln)
c.2758G>C (p.Glu920Gln)
c.2767G>C (p.Glu923Gln)
c.2617G>C (p.Glu873Gln)
c.2953G>C (p.Glu985Gln)
19g.13298878C>TCA404342780CACNA1Ac.2755G>A (p.Glu919Lys)
c.2761G>A (p.Glu921Lys)
c.2758G>A (p.Glu920Lys)
c.2767G>A (p.Glu923Lys)
c.2617G>A (p.Glu873Lys)
c.2953G>A (p.Glu985Lys)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298879G>ACA9240488CACNA1Ac.2754C>T (p.Gly918=)
c.2760C>T (p.Gly920=)
c.2757C>T (p.Gly919=)
c.2766C>T (p.Gly922=)
c.2616C>T (p.Gly872=)
c.2952C>T (p.Gly984=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298879G>CCA505785269CACNA1Ac.2754C>G (p.Gly918=)
c.2760C>G (p.Gly920=)
c.2757C>G (p.Gly919=)
c.2766C>G (p.Gly922=)
c.2616C>G (p.Gly872=)
c.2952C>G (p.Gly984=)
19g.13298879G=CA2323825833CACNA1Ac.2754C= (p.Gly918=)
c.2760C= (p.Gly920=)
c.2757C= (p.Gly919=)
c.2766C= (p.Gly922=)
c.2616C= (p.Gly872=)
c.2952C= (p.Gly984=)
19g.13298879G>TCA505785270CACNA1Ac.2754C>A (p.Gly918=)
c.2760C>A (p.Gly920=)
c.2757C>A (p.Gly919=)
c.2766C>A (p.Gly922=)
c.2616C>A (p.Gly872=)
c.2952C>A (p.Gly984=)
19g.13298880C>ACA404342781CACNA1Ac.2753G>T (p.Gly918Val)
c.2759G>T (p.Gly920Val)
c.2756G>T (p.Gly919Val)
c.2765G>T (p.Gly922Val)
c.2615G>T (p.Gly872Val)
c.2951G>T (p.Gly984Val)
dbSNP gnomAD v4
19g.13298880C=CA2323825836CACNA1Ac.2753G= (p.Gly918=)
c.2759G= (p.Gly920=)
c.2756G= (p.Gly919=)
c.2765G= (p.Gly922=)
c.2615G= (p.Gly872=)
c.2951G= (p.Gly984=)
19g.13298880C>GCA404342782CACNA1Ac.2753G>C (p.Gly918Ala)
c.2759G>C (p.Gly920Ala)
c.2756G>C (p.Gly919Ala)
c.2765G>C (p.Gly922Ala)
c.2615G>C (p.Gly872Ala)
c.2951G>C (p.Gly984Ala)
19g.13298880C>TCA404342783CACNA1Ac.2753G>A (p.Gly918Asp)
c.2759G>A (p.Gly920Asp)
c.2756G>A (p.Gly919Asp)
c.2765G>A (p.Gly922Asp)
c.2615G>A (p.Gly872Asp)
c.2951G>A (p.Gly984Asp)
gnomAD v4
19g.13298882delCA2582833360CACNA1Ac.2753del (p.Gly918AlafsTer?)
c.2759del (p.Gly920AlafsTer?)
c.2756del (p.Gly919AlafsTer?)
c.2765del (p.Gly922AlafsTer?)
c.2615del (p.Gly872AlafsTer?)
c.2951del (p.Gly984AlafsTer?)
gnomAD v4
19g.13298881C>ACA404342786CACNA1Ac.2752G>T (p.Gly918Cys)
c.2758G>T (p.Gly920Cys)
c.2755G>T (p.Gly919Cys)
c.2764G>T (p.Gly922Cys)
c.2614G>T (p.Gly872Cys)
c.2950G>T (p.Gly984Cys)
ClinVar dbSNP
19g.13298881C>GCA404342784CACNA1Ac.2752G>C (p.Gly918Arg)
c.2758G>C (p.Gly920Arg)
c.2755G>C (p.Gly919Arg)
c.2764G>C (p.Gly922Arg)
c.2614G>C (p.Gly872Arg)
c.2950G>C (p.Gly984Arg)
19g.13298881C>TCA404342785CACNA1Ac.2752G>A (p.Gly918Ser)
c.2758G>A (p.Gly920Ser)
c.2755G>A (p.Gly919Ser)
c.2764G>A (p.Gly922Ser)
c.2614G>A (p.Gly872Ser)
c.2950G>A (p.Gly984Ser)
gnomAD v4
19g.13298882C>ACA404342787CACNA1Ac.2751G>T (p.Glu917Asp)
c.2757G>T (p.Glu919Asp)
c.2754G>T (p.Glu918Asp)
c.2763G>T (p.Glu921Asp)
c.2613G>T (p.Glu871Asp)
c.2949G>T (p.Glu983Asp)
gnomAD v4
19g.13298882C=CA2323825837CACNA1Ac.2751G= (p.Glu917=)
c.2757G= (p.Glu919=)
c.2754G= (p.Glu918=)
c.2763G= (p.Glu921=)
c.2613G= (p.Glu871=)
c.2949G= (p.Glu983=)
19g.13298882C>GCA152091CACNA1Ac.2751G>C (p.Glu917Asp)
c.2757G>C (p.Glu919Asp)
c.2754G>C (p.Glu918Asp)
c.2763G>C (p.Glu921Asp)
c.2613G>C (p.Glu871Asp)
c.2949G>C (p.Glu983Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298882C>TCA9240489CACNA1Ac.2751G>A (p.Glu917=)
c.2757G>A (p.Glu919=)
c.2754G>A (p.Glu918=)
c.2763G>A (p.Glu921=)
c.2613G>A (p.Glu871=)
c.2949G>A (p.Glu983=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298883T>ACA404342788CACNA1Ac.2750A>T (p.Glu917Val)
c.2756A>T (p.Glu919Val)
c.2753A>T (p.Glu918Val)
c.2762A>T (p.Glu921Val)
c.2612A>T (p.Glu871Val)
c.2948A>T (p.Glu983Val)
gnomAD v4
19g.13298883T>CCA404342789CACNA1Ac.2750A>G (p.Glu917Gly)
c.2756A>G (p.Glu919Gly)
c.2753A>G (p.Glu918Gly)
c.2762A>G (p.Glu921Gly)
c.2612A>G (p.Glu871Gly)
c.2948A>G (p.Glu983Gly)
gnomAD v4
19g.13298883T>GCA404342790CACNA1Ac.2750A>C (p.Glu917Ala)
c.2756A>C (p.Glu919Ala)
c.2753A>C (p.Glu918Ala)
c.2762A>C (p.Glu921Ala)
c.2612A>C (p.Glu871Ala)
c.2948A>C (p.Glu983Ala)
19g.13298884C>ACA404342791CACNA1Ac.2749G>T (p.Glu917Ter)
c.2755G>T (p.Glu919Ter)
c.2752G>T (p.Glu918Ter)
c.2761G>T (p.Glu921Ter)
c.2611G>T (p.Glu871Ter)
c.2947G>T (p.Glu983Ter)
19g.13298884C=CA2323825840CACNA1Ac.2749G= (p.Glu917=)
c.2755G= (p.Glu919=)
c.2752G= (p.Glu918=)
c.2761G= (p.Glu921=)
c.2611G= (p.Glu871=)
c.2947G= (p.Glu983=)
19g.13298884C>GCA404342792CACNA1Ac.2749G>C (p.Glu917Gln)
c.2755G>C (p.Glu919Gln)
c.2752G>C (p.Glu918Gln)
c.2761G>C (p.Glu921Gln)
c.2611G>C (p.Glu871Gln)
c.2947G>C (p.Glu983Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298884C>TCA305506396CACNA1Ac.2749G>A (p.Glu917Lys)
c.2755G>A (p.Glu919Lys)
c.2752G>A (p.Glu918Lys)
c.2761G>A (p.Glu921Lys)
c.2611G>A (p.Glu871Lys)
c.2947G>A (p.Glu983Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298885C>ACA404342793CACNA1Ac.2748G>T (p.Trp916Cys)
c.2754G>T (p.Trp918Cys)
c.2751G>T (p.Trp917Cys)
c.2760G>T (p.Trp920Cys)
c.2610G>T (p.Trp870Cys)
c.2946G>T (p.Trp982Cys)
gnomAD v4
19g.13298885C=CA2323825842CACNA1Ac.2748G= (p.Trp916=)
c.2754G= (p.Trp918=)
c.2751G= (p.Trp917=)
c.2760G= (p.Trp920=)
c.2610G= (p.Trp870=)
c.2946G= (p.Trp982=)
19g.13298885C>GCA404342794CACNA1Ac.2748G>C (p.Trp916Cys)
c.2754G>C (p.Trp918Cys)
c.2751G>C (p.Trp917Cys)
c.2760G>C (p.Trp920Cys)
c.2610G>C (p.Trp870Cys)
c.2946G>C (p.Trp982Cys)
gnomAD v4
19g.13298885C>TCA404342795CACNA1Ac.2748G>A (p.Trp916Ter)
c.2754G>A (p.Trp918Ter)
c.2751G>A (p.Trp917Ter)
c.2760G>A (p.Trp920Ter)
c.2610G>A (p.Trp870Ter)
c.2946G>A (p.Trp982Ter)
dbSNP gnomAD v2 gnomAD v4
19g.13298886C>ACA404342796CACNA1Ac.2747G>T (p.Trp916Leu)
c.2753G>T (p.Trp918Leu)
c.2750G>T (p.Trp917Leu)
c.2759G>T (p.Trp920Leu)
c.2609G>T (p.Trp870Leu)
c.2945G>T (p.Trp982Leu)
dbSNP gnomAD v2
19g.13298886C=CA2323825844CACNA1Ac.2747G= (p.Trp916=)
c.2753G= (p.Trp918=)
c.2750G= (p.Trp917=)
c.2759G= (p.Trp920=)
c.2609G= (p.Trp870=)
c.2945G= (p.Trp982=)
19g.13298886C>GCA404342798CACNA1Ac.2747G>C (p.Trp916Ser)
c.2753G>C (p.Trp918Ser)
c.2750G>C (p.Trp917Ser)
c.2759G>C (p.Trp920Ser)
c.2609G>C (p.Trp870Ser)
c.2945G>C (p.Trp982Ser)
19g.13298886C>TCA404342797CACNA1Ac.2747G>A (p.Trp916Ter)
c.2753G>A (p.Trp918Ter)
c.2750G>A (p.Trp917Ter)
c.2759G>A (p.Trp920Ter)
c.2609G>A (p.Trp870Ter)
c.2945G>A (p.Trp982Ter)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298887A>CCA404342799CACNA1Ac.2746T>G (p.Trp916Gly)
c.2752T>G (p.Trp918Gly)
c.2749T>G (p.Trp917Gly)
c.2758T>G (p.Trp920Gly)
c.2608T>G (p.Trp870Gly)
c.2944T>G (p.Trp982Gly)
19g.13298887A>GCA404342800CACNA1Ac.2746T>C (p.Trp916Arg)
c.2752T>C (p.Trp918Arg)
c.2749T>C (p.Trp917Arg)
c.2758T>C (p.Trp920Arg)
c.2608T>C (p.Trp870Arg)
c.2944T>C (p.Trp982Arg)
gnomAD v4
19g.13298887A>TCA404342801CACNA1Ac.2746T>A (p.Trp916Arg)
c.2752T>A (p.Trp918Arg)
c.2749T>A (p.Trp917Arg)
c.2758T>A (p.Trp920Arg)
c.2608T>A (p.Trp870Arg)
c.2944T>A (p.Trp982Arg)
19g.13298888G>ACA505785287CACNA1Ac.2745C>T (p.Phe915=)
c.2751C>T (p.Phe917=)
c.2748C>T (p.Phe916=)
c.2757C>T (p.Phe919=)
c.2607C>T (p.Phe869=)
c.2943C>T (p.Phe981=)
19g.13298888G>CCA404342802CACNA1Ac.2745C>G (p.Phe915Leu)
c.2751C>G (p.Phe917Leu)
c.2748C>G (p.Phe916Leu)
c.2757C>G (p.Phe919Leu)
c.2607C>G (p.Phe869Leu)
c.2943C>G (p.Phe981Leu)
19g.13298888G>TCA404342803CACNA1Ac.2745C>A (p.Phe915Leu)
c.2751C>A (p.Phe917Leu)
c.2748C>A (p.Phe916Leu)
c.2757C>A (p.Phe919Leu)
c.2607C>A (p.Phe869Leu)
c.2943C>A (p.Phe981Leu)
19g.13298889A>CCA404342804CACNA1Ac.2744T>G (p.Phe915Cys)
c.2750T>G (p.Phe917Cys)
c.2747T>G (p.Phe916Cys)
c.2756T>G (p.Phe919Cys)
c.2606T>G (p.Phe869Cys)
c.2942T>G (p.Phe981Cys)
19g.13298889A>GCA404342805CACNA1Ac.2744T>C (p.Phe915Ser)
c.2750T>C (p.Phe917Ser)
c.2747T>C (p.Phe916Ser)
c.2756T>C (p.Phe919Ser)
c.2606T>C (p.Phe869Ser)
c.2942T>C (p.Phe981Ser)
19g.13298889A>TCA404342806CACNA1Ac.2744T>A (p.Phe915Tyr)
c.2750T>A (p.Phe917Tyr)
c.2747T>A (p.Phe916Tyr)
c.2756T>A (p.Phe919Tyr)
c.2606T>A (p.Phe869Tyr)
c.2942T>A (p.Phe981Tyr)
19g.13298890A>CCA404342807CACNA1Ac.2743T>G (p.Phe915Val)
c.2749T>G (p.Phe917Val)
c.2746T>G (p.Phe916Val)
c.2755T>G (p.Phe919Val)
c.2605T>G (p.Phe869Val)
c.2941T>G (p.Phe981Val)
19g.13298890A>GCA404342808CACNA1Ac.2743T>C (p.Phe915Leu)
c.2749T>C (p.Phe917Leu)
c.2746T>C (p.Phe916Leu)
c.2755T>C (p.Phe919Leu)
c.2605T>C (p.Phe869Leu)
c.2941T>C (p.Phe981Leu)
19g.13298890A>TCA404342809CACNA1Ac.2743T>A (p.Phe915Ile)
c.2749T>A (p.Phe917Ile)
c.2746T>A (p.Phe916Ile)
c.2755T>A (p.Phe919Ile)
c.2605T>A (p.Phe869Ile)
c.2941T>A (p.Phe981Ile)
19g.13298891C>ACA505785295CACNA1Ac.2742G>T (p.Gly914=)
c.2748G>T (p.Gly916=)
c.2745G>T (p.Gly915=)
c.2754G>T (p.Gly918=)
c.2604G>T (p.Gly868=)
c.2940G>T (p.Gly980=)
gnomAD v4
19g.13298891C>GCA505785296CACNA1Ac.2742G>C (p.Gly914=)
c.2748G>C (p.Gly916=)
c.2745G>C (p.Gly915=)
c.2754G>C (p.Gly918=)
c.2604G>C (p.Gly868=)
c.2940G>C (p.Gly980=)
19g.13298891C>TCA505785297CACNA1Ac.2742G>A (p.Gly914=)
c.2748G>A (p.Gly916=)
c.2745G>A (p.Gly915=)
c.2754G>A (p.Gly918=)
c.2604G>A (p.Gly868=)
c.2940G>A (p.Gly980=)
ClinVar dbSNP gnomAD v4
19g.13298892C>ACA404342810CACNA1Ac.2741G>T (p.Gly914Val)
c.2747G>T (p.Gly916Val)
c.2744G>T (p.Gly915Val)
c.2753G>T (p.Gly918Val)
c.2603G>T (p.Gly868Val)
c.2939G>T (p.Gly980Val)
19g.13298892C=CA2323825845CACNA1Ac.2741G= (p.Gly914=)
c.2747G= (p.Gly916=)
c.2744G= (p.Gly915=)
c.2753G= (p.Gly918=)
c.2603G= (p.Gly868=)
c.2939G= (p.Gly980=)
19g.13298892C>GCA9240490CACNA1Ac.2741G>C (p.Gly914Ala)
c.2747G>C (p.Gly916Ala)
c.2744G>C (p.Gly915Ala)
c.2753G>C (p.Gly918Ala)
c.2603G>C (p.Gly868Ala)
c.2939G>C (p.Gly980Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298892C>TCA305506400CACNA1Ac.2741G>A (p.Gly914Glu)
c.2747G>A (p.Gly916Glu)
c.2744G>A (p.Gly915Glu)
c.2753G>A (p.Gly918Glu)
c.2603G>A (p.Gly868Glu)
c.2939G>A (p.Gly980Glu)
dbSNP gnomAD v3 gnomAD v4
19g.13298893C>ACA404342811CACNA1Ac.2740G>T (p.Gly914Trp)
c.2746G>T (p.Gly916Trp)
c.2743G>T (p.Gly915Trp)
c.2752G>T (p.Gly918Trp)
c.2602G>T (p.Gly868Trp)
c.2938G>T (p.Gly980Trp)
gnomAD v4
19g.13298893C>GCA404342812CACNA1Ac.2740G>C (p.Gly914Arg)
c.2746G>C (p.Gly916Arg)
c.2743G>C (p.Gly915Arg)
c.2752G>C (p.Gly918Arg)
c.2602G>C (p.Gly868Arg)
c.2938G>C (p.Gly980Arg)
19g.13298893C>TCA404342813CACNA1Ac.2740G>A (p.Gly914Arg)
c.2746G>A (p.Gly916Arg)
c.2743G>A (p.Gly915Arg)
c.2752G>A (p.Gly918Arg)
c.2602G>A (p.Gly868Arg)
c.2938G>A (p.Gly980Arg)
gnomAD v4
19g.13298894G>ACA152088CACNA1Ac.2739C>T (p.Pro913=)
c.2745C>T (p.Pro915=)
c.2742C>T (p.Pro914=)
c.2751C>T (p.Pro917=)
c.2601C>T (p.Pro867=)
c.2937C>T (p.Pro979=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298894G>CCA9240491CACNA1Ac.2739C>G (p.Pro913=)
c.2745C>G (p.Pro915=)
c.2742C>G (p.Pro914=)
c.2751C>G (p.Pro917=)
c.2601C>G (p.Pro867=)
c.2937C>G (p.Pro979=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298894G=CA2323825849CACNA1Ac.2739C= (p.Pro913=)
c.2745C= (p.Pro915=)
c.2742C= (p.Pro914=)
c.2751C= (p.Pro917=)
c.2601C= (p.Pro867=)
c.2937C= (p.Pro979=)
19g.13298894G>TCA505785309CACNA1Ac.2739C>A (p.Pro913=)
c.2745C>A (p.Pro915=)
c.2742C>A (p.Pro914=)
c.2751C>A (p.Pro917=)
c.2601C>A (p.Pro867=)
c.2937C>A (p.Pro979=)
gnomAD v4
19g.13298894_13298896delinsAGACA10605911CACNA1Ac.2737_2739delinsTCT (p.Pro913Ser)
c.2743_2745delinsTCT (p.Pro915Ser)
c.2740_2742delinsTCT (p.Pro914Ser)
c.2749_2751delinsTCT (p.Pro917Ser)
c.2599_2601delinsTCT (p.Pro867Ser)
c.2935_2937delinsTCT (p.Pro979Ser)
ClinVar dbSNP
19g.13298894_13298896delinsGGGCA2323825851CACNA1Ac.2737_2739delinsCCC (p.Pro913=)
c.2743_2745delinsCCC (p.Pro915=)
c.2740_2742delinsCCC (p.Pro914=)
c.2749_2751delinsCCC (p.Pro917=)
c.2599_2601delinsCCC (p.Pro867=)
c.2935_2937delinsCCC (p.Pro979=)
19g.13298895G>ACA404342814CACNA1Ac.2738C>T (p.Pro913Leu)
c.2744C>T (p.Pro915Leu)
c.2741C>T (p.Pro914Leu)
c.2750C>T (p.Pro917Leu)
c.2600C>T (p.Pro867Leu)
c.2936C>T (p.Pro979Leu)
gnomAD v4
19g.13298895G>CCA404342815CACNA1Ac.2738C>G (p.Pro913Arg)
c.2744C>G (p.Pro915Arg)
c.2741C>G (p.Pro914Arg)
c.2750C>G (p.Pro917Arg)
c.2600C>G (p.Pro867Arg)
c.2936C>G (p.Pro979Arg)
19g.13298895G=CA2323825853CACNA1Ac.2738C= (p.Pro913=)
c.2744C= (p.Pro915=)
c.2741C= (p.Pro914=)
c.2750C= (p.Pro917=)
c.2600C= (p.Pro867=)
c.2936C= (p.Pro979=)
19g.13298895G>TCA404342816CACNA1Ac.2738C>A (p.Pro913His)
c.2744C>A (p.Pro915His)
c.2741C>A (p.Pro914His)
c.2750C>A (p.Pro917His)
c.2600C>A (p.Pro867His)
c.2936C>A (p.Pro979His)
dbSNP gnomAD v2 gnomAD v4
19g.13298895_13298910delinsCACA2697556336CACNA1Ac.2723_2738delinsTG (p.Gly908ValfsTer?)
c.2729_2744delinsTG (p.Gly910ValfsTer?)
c.2726_2741delinsTG (p.Gly909ValfsTer?)
c.2735_2750delinsTG (p.Gly912ValfsTer?)
c.2585_2600delinsTG (p.Gly862ValfsTer?)
c.2921_2936delinsTG (p.Gly974ValfsTer?)
ClinVar
19g.13298896G>ACA152085CACNA1Ac.2737C>T (p.Pro913Ser)
c.2743C>T (p.Pro915Ser)
c.2740C>T (p.Pro914Ser)
c.2749C>T (p.Pro917Ser)
c.2599C>T (p.Pro867Ser)
c.2935C>T (p.Pro979Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298896G>CCA404342817CACNA1Ac.2737C>G (p.Pro913Ala)
c.2743C>G (p.Pro915Ala)
c.2740C>G (p.Pro914Ala)
c.2749C>G (p.Pro917Ala)
c.2599C>G (p.Pro867Ala)
c.2935C>G (p.Pro979Ala)
dbSNP gnomAD v3 gnomAD v4
19g.13298896G=CA2323825855CACNA1Ac.2737C= (p.Pro913=)
c.2743C= (p.Pro915=)
c.2740C= (p.Pro914=)
c.2749C= (p.Pro917=)
c.2599C= (p.Pro867=)
c.2935C= (p.Pro979=)
19g.13298896G>TCA404342818CACNA1Ac.2737C>A (p.Pro913Thr)
c.2743C>A (p.Pro915Thr)
c.2740C>A (p.Pro914Thr)
c.2749C>A (p.Pro917Thr)
c.2599C>A (p.Pro867Thr)
c.2935C>A (p.Pro979Thr)
gnomAD v4
19g.13298897T>ACA404342819CACNA1Ac.2736A>T (p.Gln912His)
c.2742A>T (p.Gln914His)
c.2739A>T (p.Gln913His)
c.2748A>T (p.Gln916His)
c.2598A>T (p.Gln866His)
c.2934A>T (p.Gln978His)
19g.13298897T>CCA505785318CACNA1Ac.2736A>G (p.Gln912=)
c.2742A>G (p.Gln914=)
c.2739A>G (p.Gln913=)
c.2748A>G (p.Gln916=)
c.2598A>G (p.Gln866=)
c.2934A>G (p.Gln978=)
19g.13298897T>GCA404342820CACNA1Ac.2736A>C (p.Gln912His)
c.2742A>C (p.Gln914His)
c.2739A>C (p.Gln913His)
c.2748A>C (p.Gln916His)
c.2598A>C (p.Gln866His)
c.2934A>C (p.Gln978His)
19g.13298898T>ACA404342821CACNA1Ac.2735A>T (p.Gln912Leu)
c.2741A>T (p.Gln914Leu)
c.2738A>T (p.Gln913Leu)
c.2747A>T (p.Gln916Leu)
c.2597A>T (p.Gln866Leu)
c.2933A>T (p.Gln978Leu)
19g.13298898T>CCA404342823CACNA1Ac.2735A>G (p.Gln912Arg)
c.2741A>G (p.Gln914Arg)
c.2738A>G (p.Gln913Arg)
c.2747A>G (p.Gln916Arg)
c.2597A>G (p.Gln866Arg)
c.2933A>G (p.Gln978Arg)
19g.13298898T>GCA404342822CACNA1Ac.2735A>C (p.Gln912Pro)
c.2741A>C (p.Gln914Pro)
c.2738A>C (p.Gln913Pro)
c.2747A>C (p.Gln916Pro)
c.2597A>C (p.Gln866Pro)
c.2933A>C (p.Gln978Pro)
19g.13298899G>ACA404342824CACNA1Ac.2734C>T (p.Gln912Ter)
c.2740C>T (p.Gln914Ter)
c.2737C>T (p.Gln913Ter)
c.2746C>T (p.Gln916Ter)
c.2596C>T (p.Gln866Ter)
c.2932C>T (p.Gln978Ter)
ClinVar dbSNP gnomAD v4
19g.13298899G>CCA404342825CACNA1Ac.2734C>G (p.Gln912Glu)
c.2740C>G (p.Gln914Glu)
c.2737C>G (p.Gln913Glu)
c.2746C>G (p.Gln916Glu)
c.2596C>G (p.Gln866Glu)
c.2932C>G (p.Gln978Glu)
gnomAD v4
19g.13298899G=CA2323825857CACNA1Ac.2734C= (p.Gln912=)
c.2740C= (p.Gln914=)
c.2737C= (p.Gln913=)
c.2746C= (p.Gln916=)
c.2596C= (p.Gln866=)
c.2932C= (p.Gln978=)
19g.13298899G>TCA404342826CACNA1Ac.2734C>A (p.Gln912Lys)
c.2740C>A (p.Gln914Lys)
c.2737C>A (p.Gln913Lys)
c.2746C>A (p.Gln916Lys)
c.2596C>A (p.Gln866Lys)
c.2932C>A (p.Gln978Lys)
gnomAD v4
19g.13298900C>ACA404342827CACNA1Ac.2733G>T (p.Glu911Asp)
c.2739G>T (p.Glu913Asp)
c.2736G>T (p.Glu912Asp)
c.2745G>T (p.Glu915Asp)
c.2595G>T (p.Glu865Asp)
c.2931G>T (p.Glu977Asp)
19g.13298900C=CA2323825858CACNA1Ac.2733G= (p.Glu911=)
c.2739G= (p.Glu913=)
c.2736G= (p.Glu912=)
c.2745G= (p.Glu915=)
c.2595G= (p.Glu865=)
c.2931G= (p.Glu977=)
19g.13298900C>GCA404342828CACNA1Ac.2733G>C (p.Glu911Asp)
c.2739G>C (p.Glu913Asp)
c.2736G>C (p.Glu912Asp)
c.2745G>C (p.Glu915Asp)
c.2595G>C (p.Glu865Asp)
c.2931G>C (p.Glu977Asp)
19g.13298900C>TCA505785326CACNA1Ac.2733G>A (p.Glu911=)
c.2739G>A (p.Glu913=)
c.2736G>A (p.Glu912=)
c.2745G>A (p.Glu915=)
c.2595G>A (p.Glu865=)
c.2931G>A (p.Glu977=)
dbSNP gnomAD v2 gnomAD v4
19g.13298901T>ACA404342829CACNA1Ac.2732A>T (p.Glu911Val)
c.2738A>T (p.Glu913Val)
c.2735A>T (p.Glu912Val)
c.2744A>T (p.Glu915Val)
c.2594A>T (p.Glu865Val)
c.2930A>T (p.Glu977Val)
19g.13298901T>CCA404342830CACNA1Ac.2732A>G (p.Glu911Gly)
c.2738A>G (p.Glu913Gly)
c.2735A>G (p.Glu912Gly)
c.2744A>G (p.Glu915Gly)
c.2594A>G (p.Glu865Gly)
c.2930A>G (p.Glu977Gly)
19g.13298901T>GCA404342831CACNA1Ac.2732A>C (p.Glu911Ala)
c.2738A>C (p.Glu913Ala)
c.2735A>C (p.Glu912Ala)
c.2744A>C (p.Glu915Ala)
c.2594A>C (p.Glu865Ala)
c.2930A>C (p.Glu977Ala)
19g.13298902C>ACA404342832CACNA1Ac.2731G>T (p.Glu911Ter)
c.2737G>T (p.Glu913Ter)
c.2734G>T (p.Glu912Ter)
c.2743G>T (p.Glu915Ter)
c.2593G>T (p.Glu865Ter)
c.2929G>T (p.Glu977Ter)
gnomAD v4
19g.13298902C=CA2323825860CACNA1Ac.2731G= (p.Glu911=)
c.2737G= (p.Glu913=)
c.2734G= (p.Glu912=)
c.2743G= (p.Glu915=)
c.2593G= (p.Glu865=)
c.2929G= (p.Glu977=)
19g.13298902C>GCA404342833CACNA1Ac.2731G>C (p.Glu911Gln)
c.2737G>C (p.Glu913Gln)
c.2734G>C (p.Glu912Gln)
c.2743G>C (p.Glu915Gln)
c.2593G>C (p.Glu865Gln)
c.2929G>C (p.Glu977Gln)
dbSNP gnomAD v2 gnomAD v4
19g.13298902C>TCA404342834CACNA1Ac.2731G>A (p.Glu911Lys)
c.2737G>A (p.Glu913Lys)
c.2734G>A (p.Glu912Lys)
c.2743G>A (p.Glu915Lys)
c.2593G>A (p.Glu865Lys)
c.2929G>A (p.Glu977Lys)
19g.13298903C>ACA505785330CACNA1Ac.2730G>T (p.Leu910=)
c.2736G>T (p.Leu912=)
c.2733G>T (p.Leu911=)
c.2742G>T (p.Leu914=)
c.2592G>T (p.Leu864=)
c.2928G>T (p.Leu976=)
gnomAD v4
19g.13298903C=CA2323825861CACNA1Ac.2730G= (p.Leu910=)
c.2736G= (p.Leu912=)
c.2733G= (p.Leu911=)
c.2742G= (p.Leu914=)
c.2592G= (p.Leu864=)
c.2928G= (p.Leu976=)
19g.13298903C>GCA505785332CACNA1Ac.2730G>C (p.Leu910=)
c.2736G>C (p.Leu912=)
c.2733G>C (p.Leu911=)
c.2742G>C (p.Leu914=)
c.2592G>C (p.Leu864=)
c.2928G>C (p.Leu976=)
19g.13298903C>TCA305506418CACNA1Ac.2730G>A (p.Leu910=)
c.2736G>A (p.Leu912=)
c.2733G>A (p.Leu911=)
c.2742G>A (p.Leu914=)
c.2592G>A (p.Leu864=)
c.2928G>A (p.Leu976=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.13298904A=CA2323825864CACNA1Ac.2729T= (p.Leu910=)
c.2735T= (p.Leu912=)
c.2732T= (p.Leu911=)
c.2741T= (p.Leu914=)
c.2591T= (p.Leu864=)
c.2927T= (p.Leu976=)
19g.13298904A>CCA305506421CACNA1Ac.2729T>G (p.Leu910Arg)
c.2735T>G (p.Leu912Arg)
c.2732T>G (p.Leu911Arg)
c.2741T>G (p.Leu914Arg)
c.2591T>G (p.Leu864Arg)
c.2927T>G (p.Leu976Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298904A>GCA404342835CACNA1Ac.2729T>C (p.Leu910Pro)
c.2735T>C (p.Leu912Pro)
c.2732T>C (p.Leu911Pro)
c.2741T>C (p.Leu914Pro)
c.2591T>C (p.Leu864Pro)
c.2927T>C (p.Leu976Pro)
gnomAD v4
19g.13298904A>TCA16620792CACNA1Ac.2729T>A (p.Leu910Gln)
c.2735T>A (p.Leu912Gln)
c.2732T>A (p.Leu911Gln)
c.2741T>A (p.Leu914Gln)
c.2591T>A (p.Leu864Gln)
c.2927T>A (p.Leu976Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.13298905G>ACA9240492CACNA1Ac.2728C>T (p.Leu910=)
c.2734C>T (p.Leu912=)
c.2731C>T (p.Leu911=)
c.2740C>T (p.Leu914=)
c.2590C>T (p.Leu864=)
c.2926C>T (p.Leu976=)
dbSNP ExAC gnomAD v2
19g.13298905G>CCA404342836CACNA1Ac.2728C>G (p.Leu910Val)
c.2734C>G (p.Leu912Val)
c.2731C>G (p.Leu911Val)
c.2740C>G (p.Leu914Val)
c.2590C>G (p.Leu864Val)
c.2926C>G (p.Leu976Val)
ClinVar
19g.13298905G=CA2323825865CACNA1Ac.2728C= (p.Leu910=)
c.2734C= (p.Leu912=)
c.2731C= (p.Leu911=)
c.2740C= (p.Leu914=)
c.2590C= (p.Leu864=)
c.2926C= (p.Leu976=)
19g.13298905G>TCA404342837CACNA1Ac.2728C>A (p.Leu910Met)
c.2734C>A (p.Leu912Met)
c.2731C>A (p.Leu911Met)
c.2740C>A (p.Leu914Met)
c.2590C>A (p.Leu864Met)
c.2926C>A (p.Leu976Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298906G>ACA505785340CACNA1Ac.2727C>T (p.Ser909=)
c.2733C>T (p.Ser911=)
c.2730C>T (p.Ser910=)
c.2739C>T (p.Ser913=)
c.2589C>T (p.Ser863=)
c.2925C>T (p.Ser975=)
19g.13298906G>CCA404342838CACNA1Ac.2727C>G (p.Ser909Arg)
c.2733C>G (p.Ser911Arg)
c.2730C>G (p.Ser910Arg)
c.2739C>G (p.Ser913Arg)
c.2589C>G (p.Ser863Arg)
c.2925C>G (p.Ser975Arg)
19g.13298906G>TCA404342839CACNA1Ac.2727C>A (p.Ser909Arg)
c.2733C>A (p.Ser911Arg)
c.2730C>A (p.Ser910Arg)
c.2739C>A (p.Ser913Arg)
c.2589C>A (p.Ser863Arg)
c.2925C>A (p.Ser975Arg)
gnomAD v4
19g.13298907C>ACA404342840CACNA1Ac.2726G>T (p.Ser909Ile)
c.2732G>T (p.Ser911Ile)
c.2729G>T (p.Ser910Ile)
c.2738G>T (p.Ser913Ile)
c.2588G>T (p.Ser863Ile)
c.2924G>T (p.Ser975Ile)
dbSNP gnomAD v2 gnomAD v4
19g.13298907C=CA2323825867CACNA1Ac.2726G= (p.Ser909=)
c.2732G= (p.Ser911=)
c.2729G= (p.Ser910=)
c.2738G= (p.Ser913=)
c.2588G= (p.Ser863=)
c.2924G= (p.Ser975=)
19g.13298907C>GCA404342841CACNA1Ac.2726G>C (p.Ser909Thr)
c.2732G>C (p.Ser911Thr)
c.2729G>C (p.Ser910Thr)
c.2738G>C (p.Ser913Thr)
c.2588G>C (p.Ser863Thr)
c.2924G>C (p.Ser975Thr)
dbSNP gnomAD v2 gnomAD v4
19g.13298907C>TCA404342842CACNA1Ac.2726G>A (p.Ser909Asn)
c.2732G>A (p.Ser911Asn)
c.2729G>A (p.Ser910Asn)
c.2738G>A (p.Ser913Asn)
c.2588G>A (p.Ser863Asn)
c.2924G>A (p.Ser975Asn)
ClinVar dbSNP gnomAD v4
19g.13298908T>ACA404342843CACNA1Ac.2725A>T (p.Ser909Cys)
c.2731A>T (p.Ser911Cys)
c.2728A>T (p.Ser910Cys)
c.2737A>T (p.Ser913Cys)
c.2587A>T (p.Ser863Cys)
c.2923A>T (p.Ser975Cys)
19g.13298908T>CCA404342844CACNA1Ac.2725A>G (p.Ser909Gly)
c.2731A>G (p.Ser911Gly)
c.2728A>G (p.Ser910Gly)
c.2737A>G (p.Ser913Gly)
c.2587A>G (p.Ser863Gly)
c.2923A>G (p.Ser975Gly)
gnomAD v4
19g.13298908T>GCA404342845CACNA1Ac.2725A>C (p.Ser909Arg)
c.2731A>C (p.Ser911Arg)
c.2728A>C (p.Ser910Arg)
c.2737A>C (p.Ser913Arg)
c.2587A>C (p.Ser863Arg)
c.2923A>C (p.Ser975Arg)
19g.13298909G>ACA505785347CACNA1Ac.2724C>T (p.Gly908=)
c.2730C>T (p.Gly910=)
c.2727C>T (p.Gly909=)
c.2736C>T (p.Gly912=)
c.2586C>T (p.Gly862=)
c.2922C>T (p.Gly974=)
gnomAD v4
19g.13298909G>CCA505785350CACNA1Ac.2724C>G (p.Gly908=)
c.2730C>G (p.Gly910=)
c.2727C>G (p.Gly909=)
c.2736C>G (p.Gly912=)
c.2586C>G (p.Gly862=)
c.2922C>G (p.Gly974=)
19g.13298909G>TCA505785355CACNA1Ac.2724C>A (p.Gly908=)
c.2730C>A (p.Gly910=)
c.2727C>A (p.Gly909=)
c.2736C>A (p.Gly912=)
c.2586C>A (p.Gly862=)
c.2922C>A (p.Gly974=)
19g.13298910_13298921delCA2582833431CACNA1Ac.2713_2724del (p.Ala905_Gly908del)
c.2719_2730del (p.Ala907_Gly910del)
c.2716_2727del (p.Ala906_Gly909del)
c.2725_2736del (p.Ala909_Gly912del)
c.2575_2586del (p.Ala859_Gly862del)
c.2911_2922del (p.Ala971_Gly974del)
gnomAD v4
19g.13298910C>ACA404342847CACNA1Ac.2723G>T (p.Gly908Val)
c.2729G>T (p.Gly910Val)
c.2726G>T (p.Gly909Val)
c.2735G>T (p.Gly912Val)
c.2585G>T (p.Gly862Val)
c.2921G>T (p.Gly974Val)
gnomAD v4
19g.13298910C=CA2323825868CACNA1Ac.2723G= (p.Gly908=)
c.2729G= (p.Gly910=)
c.2726G= (p.Gly909=)
c.2735G= (p.Gly912=)
c.2585G= (p.Gly862=)
c.2921G= (p.Gly974=)
19g.13298910C>GCA404342846CACNA1Ac.2723G>C (p.Gly908Ala)
c.2729G>C (p.Gly910Ala)
c.2726G>C (p.Gly909Ala)
c.2735G>C (p.Gly912Ala)
c.2585G>C (p.Gly862Ala)
c.2921G>C (p.Gly974Ala)
19g.13298910C>TCA9240493CACNA1Ac.2723G>A (p.Gly908Asp)
c.2729G>A (p.Gly910Asp)
c.2726G>A (p.Gly909Asp)
c.2735G>A (p.Gly912Asp)
c.2585G>A (p.Gly862Asp)
c.2921G>A (p.Gly974Asp)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298911C>ACA404342848CACNA1Ac.2722G>T (p.Gly908Cys)
c.2728G>T (p.Gly910Cys)
c.2725G>T (p.Gly909Cys)
c.2734G>T (p.Gly912Cys)
c.2584G>T (p.Gly862Cys)
c.2920G>T (p.Gly974Cys)
gnomAD v4
19g.13298911C=CA2323825870CACNA1Ac.2722G= (p.Gly908=)
c.2728G= (p.Gly910=)
c.2725G= (p.Gly909=)
c.2734G= (p.Gly912=)
c.2584G= (p.Gly862=)
c.2920G= (p.Gly974=)
19g.13298911C>GCA404342849CACNA1Ac.2722G>C (p.Gly908Arg)
c.2728G>C (p.Gly910Arg)
c.2725G>C (p.Gly909Arg)
c.2734G>C (p.Gly912Arg)
c.2584G>C (p.Gly862Arg)
c.2920G>C (p.Gly974Arg)
gnomAD v4
19g.13298911C>TCA305506428CACNA1Ac.2722G>A (p.Gly908Ser)
c.2728G>A (p.Gly910Ser)
c.2725G>A (p.Gly909Ser)
c.2734G>A (p.Gly912Ser)
c.2584G>A (p.Gly862Ser)
c.2920G>A (p.Gly974Ser)
dbSNP
19g.13298912C>ACA404342850CACNA1Ac.2721G>T (p.Glu907Asp)
c.2727G>T (p.Glu909Asp)
c.2724G>T (p.Glu908Asp)
c.2733G>T (p.Glu911Asp)
c.2583G>T (p.Glu861Asp)
c.2919G>T (p.Glu973Asp)
19g.13298912C>GCA404342851CACNA1Ac.2721G>C (p.Glu907Asp)
c.2727G>C (p.Glu909Asp)
c.2724G>C (p.Glu908Asp)
c.2733G>C (p.Glu911Asp)
c.2583G>C (p.Glu861Asp)
c.2919G>C (p.Glu973Asp)
19g.13298912C>TCA505785359CACNA1Ac.2721G>A (p.Glu907=)
c.2727G>A (p.Glu909=)
c.2724G>A (p.Glu908=)
c.2733G>A (p.Glu911=)
c.2583G>A (p.Glu861=)
c.2919G>A (p.Glu973=)
19g.13298913T>ACA404342852CACNA1Ac.2720A>T (p.Glu907Val)
c.2726A>T (p.Glu909Val)
c.2723A>T (p.Glu908Val)
c.2732A>T (p.Glu911Val)
c.2582A>T (p.Glu861Val)
c.2918A>T (p.Glu973Val)
19g.13298913T>CCA404342853CACNA1Ac.2720A>G (p.Glu907Gly)
c.2726A>G (p.Glu909Gly)
c.2723A>G (p.Glu908Gly)
c.2732A>G (p.Glu911Gly)
c.2582A>G (p.Glu861Gly)
c.2918A>G (p.Glu973Gly)
ClinVar dbSNP
19g.13298913T>GCA404342854CACNA1Ac.2720A>C (p.Glu907Ala)
c.2726A>C (p.Glu909Ala)
c.2723A>C (p.Glu908Ala)
c.2732A>C (p.Glu911Ala)
c.2582A>C (p.Glu861Ala)
c.2918A>C (p.Glu973Ala)
19g.13298914C>ACA404342855CACNA1Ac.2719G>T (p.Glu907Ter)
c.2725G>T (p.Glu909Ter)
c.2722G>T (p.Glu908Ter)
c.2731G>T (p.Glu911Ter)
c.2581G>T (p.Glu861Ter)
c.2917G>T (p.Glu973Ter)
gnomAD v4
19g.13298914C>GCA404342856CACNA1Ac.2719G>C (p.Glu907Gln)
c.2725G>C (p.Glu909Gln)
c.2722G>C (p.Glu908Gln)
c.2731G>C (p.Glu911Gln)
c.2581G>C (p.Glu861Gln)
c.2917G>C (p.Glu973Gln)
gnomAD v4
19g.13298914C>TCA404342857CACNA1Ac.2719G>A (p.Glu907Lys)
c.2725G>A (p.Glu909Lys)
c.2722G>A (p.Glu908Lys)
c.2731G>A (p.Glu911Lys)
c.2581G>A (p.Glu861Lys)
c.2917G>A (p.Glu973Lys)
gnomAD v4
19g.13298915C>ACA505785364CACNA1Ac.2718G>T (p.Arg906=)
c.2724G>T (p.Arg908=)
c.2721G>T (p.Arg907=)
c.2730G>T (p.Arg910=)
c.2580G>T (p.Arg860=)
c.2916G>T (p.Arg972=)
gnomAD v4
19g.13298915C=CA2323825873CACNA1Ac.2718G= (p.Arg906=)
c.2724G= (p.Arg908=)
c.2721G= (p.Arg907=)
c.2730G= (p.Arg910=)
c.2580G= (p.Arg860=)
c.2916G= (p.Arg972=)
19g.13298915C>GCA505785365CACNA1Ac.2718G>C (p.Arg906=)
c.2724G>C (p.Arg908=)
c.2721G>C (p.Arg907=)
c.2730G>C (p.Arg910=)
c.2580G>C (p.Arg860=)
c.2916G>C (p.Arg972=)
19g.13298915C>TCA16607735CACNA1Ac.2718G>A (p.Arg906=)
c.2724G>A (p.Arg908=)
c.2721G>A (p.Arg907=)
c.2730G>A (p.Arg910=)
c.2580G>A (p.Arg860=)
c.2916G>A (p.Arg972=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298916C>ACA404342858CACNA1Ac.2717G>T (p.Arg906Leu)
c.2723G>T (p.Arg908Leu)
c.2720G>T (p.Arg907Leu)
c.2729G>T (p.Arg910Leu)
c.2579G>T (p.Arg860Leu)
c.2915G>T (p.Arg972Leu)
gnomAD v4
19g.13298916C=CA2323825875CACNA1Ac.2717G= (p.Arg906=)
c.2723G= (p.Arg908=)
c.2720G= (p.Arg907=)
c.2729G= (p.Arg910=)
c.2579G= (p.Arg860=)
c.2915G= (p.Arg972=)
19g.13298916C>GCA404342859CACNA1Ac.2717G>C (p.Arg906Pro)
c.2723G>C (p.Arg908Pro)
c.2720G>C (p.Arg907Pro)
c.2729G>C (p.Arg910Pro)
c.2579G>C (p.Arg860Pro)
c.2915G>C (p.Arg972Pro)
19g.13298916C>TCA9240494CACNA1Ac.2717G>A (p.Arg906Gln)
c.2723G>A (p.Arg908Gln)
c.2720G>A (p.Arg907Gln)
c.2729G>A (p.Arg910Gln)
c.2579G>A (p.Arg860Gln)
c.2915G>A (p.Arg972Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298917G>ACA404342860CACNA1Ac.2716C>T (p.Arg906Trp)
c.2722C>T (p.Arg908Trp)
c.2719C>T (p.Arg907Trp)
c.2728C>T (p.Arg910Trp)
c.2578C>T (p.Arg860Trp)
c.2914C>T (p.Arg972Trp)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298917G>CCA404342861CACNA1Ac.2716C>G (p.Arg906Gly)
c.2722C>G (p.Arg908Gly)
c.2719C>G (p.Arg907Gly)
c.2728C>G (p.Arg910Gly)
c.2578C>G (p.Arg860Gly)
c.2914C>G (p.Arg972Gly)
dbSNP gnomAD v3 gnomAD v4
19g.13298917G=CA2323825877CACNA1Ac.2716C= (p.Arg906=)
c.2722C= (p.Arg908=)
c.2719C= (p.Arg907=)
c.2728C= (p.Arg910=)
c.2578C= (p.Arg860=)
c.2914C= (p.Arg972=)
19g.13298917G>TCA505785369CACNA1Ac.2716C>A (p.Arg906=)
c.2722C>A (p.Arg908=)
c.2719C>A (p.Arg907=)
c.2728C>A (p.Arg910=)
c.2578C>A (p.Arg860=)
c.2914C>A (p.Arg972=)
dbSNP gnomAD v2 gnomAD v4
19g.13298918G>ACA505785373CACNA1Ac.2715C>T (p.Ala905=)
c.2721C>T (p.Ala907=)
c.2718C>T (p.Ala906=)
c.2727C>T (p.Ala909=)
c.2577C>T (p.Ala859=)
c.2913C>T (p.Ala971=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.13298918G>CCA505785370CACNA1Ac.2715C>G (p.Ala905=)
c.2721C>G (p.Ala907=)
c.2718C>G (p.Ala906=)
c.2727C>G (p.Ala909=)
c.2577C>G (p.Ala859=)
c.2913C>G (p.Ala971=)
ClinVar
19g.13298918G=CA2323825878CACNA1Ac.2715C= (p.Ala905=)
c.2721C= (p.Ala907=)
c.2718C= (p.Ala906=)
c.2727C= (p.Ala909=)
c.2577C= (p.Ala859=)
c.2913C= (p.Ala971=)
19g.13298918G>TCA505785371CACNA1Ac.2715C>A (p.Ala905=)
c.2721C>A (p.Ala907=)
c.2718C>A (p.Ala906=)
c.2727C>A (p.Ala909=)
c.2577C>A (p.Ala859=)
c.2913C>A (p.Ala971=)
gnomAD v4
19g.13298919G>ACA404342862CACNA1Ac.2714C>T (p.Ala905Val)
c.2720C>T (p.Ala907Val)
c.2717C>T (p.Ala906Val)
c.2726C>T (p.Ala909Val)
c.2576C>T (p.Ala859Val)
c.2912C>T (p.Ala971Val)
gnomAD v4
19g.13298919G>CCA404342863CACNA1Ac.2714C>G (p.Ala905Gly)
c.2720C>G (p.Ala907Gly)
c.2717C>G (p.Ala906Gly)
c.2726C>G (p.Ala909Gly)
c.2576C>G (p.Ala859Gly)
c.2912C>G (p.Ala971Gly)
19g.13298919G>TCA404342864CACNA1Ac.2714C>A (p.Ala905Asp)
c.2720C>A (p.Ala907Asp)
c.2717C>A (p.Ala906Asp)
c.2726C>A (p.Ala909Asp)
c.2576C>A (p.Ala859Asp)
c.2912C>A (p.Ala971Asp)
19g.13298920C>ACA404342865CACNA1Ac.2713G>T (p.Ala905Ser)
c.2719G>T (p.Ala907Ser)
c.2716G>T (p.Ala906Ser)
c.2725G>T (p.Ala909Ser)
c.2575G>T (p.Ala859Ser)
c.2911G>T (p.Ala971Ser)
dbSNP gnomAD v2 gnomAD v4
19g.13298920C=CA2323825880CACNA1Ac.2713G= (p.Ala905=)
c.2719G= (p.Ala907=)
c.2716G= (p.Ala906=)
c.2725G= (p.Ala909=)
c.2575G= (p.Ala859=)
c.2911G= (p.Ala971=)
19g.13298920C>GCA404342866CACNA1Ac.2713G>C (p.Ala905Pro)
c.2719G>C (p.Ala907Pro)
c.2716G>C (p.Ala906Pro)
c.2725G>C (p.Ala909Pro)
c.2575G>C (p.Ala859Pro)
c.2911G>C (p.Ala971Pro)
19g.13298920C>TCA404342867CACNA1Ac.2713G>A (p.Ala905Thr)
c.2719G>A (p.Ala907Thr)
c.2716G>A (p.Ala906Thr)
c.2725G>A (p.Ala909Thr)
c.2575G>A (p.Ala859Thr)
c.2911G>A (p.Ala971Thr)
COSMIC COSMIC COSMIC COSMIC
19g.13298921G>ACA9240495CACNA1Ac.2712C>T (p.His904=)
c.2718C>T (p.His906=)
c.2715C>T (p.His905=)
c.2724C>T (p.His908=)
c.2574C>T (p.His858=)
c.2910C>T (p.His970=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298921G>CCA404342868CACNA1Ac.2712C>G (p.His904Gln)
c.2718C>G (p.His906Gln)
c.2715C>G (p.His905Gln)
c.2724C>G (p.His908Gln)
c.2574C>G (p.His858Gln)
c.2910C>G (p.His970Gln)
19g.13298921G=CA2323825882CACNA1Ac.2712C= (p.His904=)
c.2718C= (p.His906=)
c.2715C= (p.His905=)
c.2724C= (p.His908=)
c.2574C= (p.His858=)
c.2910C= (p.His970=)
19g.13298921G>TCA404342869CACNA1Ac.2712C>A (p.His904Gln)
c.2718C>A (p.His906Gln)
c.2715C>A (p.His905Gln)
c.2724C>A (p.His908Gln)
c.2574C>A (p.His858Gln)
c.2910C>A (p.His970Gln)
19g.13298922T>ACA404342870CACNA1Ac.2711A>T (p.His904Leu)
c.2717A>T (p.His906Leu)
c.2714A>T (p.His905Leu)
c.2723A>T (p.His908Leu)
c.2573A>T (p.His858Leu)
c.2909A>T (p.His970Leu)
19g.13298922T>CCA404342871CACNA1Ac.2711A>G (p.His904Arg)
c.2717A>G (p.His906Arg)
c.2714A>G (p.His905Arg)
c.2723A>G (p.His908Arg)
c.2573A>G (p.His858Arg)
c.2909A>G (p.His970Arg)
gnomAD v4
19g.13298922T>GCA404342872CACNA1Ac.2711A>C (p.His904Pro)
c.2717A>C (p.His906Pro)
c.2714A>C (p.His905Pro)
c.2723A>C (p.His908Pro)
c.2573A>C (p.His858Pro)
c.2909A>C (p.His970Pro)
19g.13298923G>ACA404342874CACNA1Ac.2710C>T (p.His904Tyr)
c.2716C>T (p.His906Tyr)
c.2713C>T (p.His905Tyr)
c.2722C>T (p.His908Tyr)
c.2572C>T (p.His858Tyr)
c.2908C>T (p.His970Tyr)
gnomAD v4
19g.13298923G>CCA404342875CACNA1Ac.2710C>G (p.His904Asp)
c.2716C>G (p.His906Asp)
c.2713C>G (p.His905Asp)
c.2722C>G (p.His908Asp)
c.2572C>G (p.His858Asp)
c.2908C>G (p.His970Asp)
gnomAD v4
19g.13298923G=CA2323825885CACNA1Ac.2710C= (p.His904=)
c.2716C= (p.His906=)
c.2713C= (p.His905=)
c.2722C= (p.His908=)
c.2572C= (p.His858=)
c.2908C= (p.His970=)
19g.13298923G>TCA404342873CACNA1Ac.2710C>A (p.His904Asn)
c.2716C>A (p.His906Asn)
c.2713C>A (p.His905Asn)
c.2722C>A (p.His908Asn)
c.2572C>A (p.His858Asn)
c.2908C>A (p.His970Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298924G>ACA505785380CACNA1Ac.2709C>T (p.His903=)
c.2715C>T (p.His905=)
c.2712C>T (p.His904=)
c.2721C>T (p.His907=)
c.2571C>T (p.His857=)
c.2907C>T (p.His969=)
gnomAD v4
19g.13298924G>CCA404342877CACNA1Ac.2709C>G (p.His903Gln)
c.2715C>G (p.His905Gln)
c.2712C>G (p.His904Gln)
c.2721C>G (p.His907Gln)
c.2571C>G (p.His857Gln)
c.2907C>G (p.His969Gln)
19g.13298924G>TCA404342876CACNA1Ac.2709C>A (p.His903Gln)
c.2715C>A (p.His905Gln)
c.2712C>A (p.His904Gln)
c.2721C>A (p.His907Gln)
c.2571C>A (p.His857Gln)
c.2907C>A (p.His969Gln)
gnomAD v4
19g.13298925T>ACA404342878CACNA1Ac.2708A>T (p.His903Leu)
c.2714A>T (p.His905Leu)
c.2711A>T (p.His904Leu)
c.2720A>T (p.His907Leu)
c.2570A>T (p.His857Leu)
c.2906A>T (p.His969Leu)
19g.13298925T>CCA404342879CACNA1Ac.2708A>G (p.His903Arg)
c.2714A>G (p.His905Arg)
c.2711A>G (p.His904Arg)
c.2720A>G (p.His907Arg)
c.2570A>G (p.His857Arg)
c.2906A>G (p.His969Arg)
dbSNP
19g.13298925T>GCA404342880CACNA1Ac.2708A>C (p.His903Pro)
c.2714A>C (p.His905Pro)
c.2711A>C (p.His904Pro)
c.2720A>C (p.His907Pro)
c.2570A>C (p.His857Pro)
c.2906A>C (p.His969Pro)
ClinVar dbSNP
19g.13298925T=CA2323825887CACNA1Ac.2708A= (p.His903=)
c.2714A= (p.His905=)
c.2711A= (p.His904=)
c.2720A= (p.His907=)
c.2570A= (p.His857=)
c.2906A= (p.His969=)
19g.13298926G>ACA9240496CACNA1Ac.2707C>T (p.His903Tyr)
c.2713C>T (p.His905Tyr)
c.2710C>T (p.His904Tyr)
c.2719C>T (p.His907Tyr)
c.2569C>T (p.His857Tyr)
c.2905C>T (p.His969Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298926G>CCA404342881CACNA1Ac.2707C>G (p.His903Asp)
c.2713C>G (p.His905Asp)
c.2710C>G (p.His904Asp)
c.2719C>G (p.His907Asp)
c.2569C>G (p.His857Asp)
c.2905C>G (p.His969Asp)
19g.13298926G=CA2323825890CACNA1Ac.2707C= (p.His903=)
c.2713C= (p.His905=)
c.2710C= (p.His904=)
c.2719C= (p.His907=)
c.2569C= (p.His857=)
c.2905C= (p.His969=)
19g.13298926G>TCA404342882CACNA1Ac.2707C>A (p.His903Asn)
c.2713C>A (p.His905Asn)
c.2710C>A (p.His904Asn)
c.2719C>A (p.His907Asn)
c.2569C>A (p.His857Asn)
c.2905C>A (p.His969Asn)
gnomAD v4

Number of alleles fetched