Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35033573C>ACA507297965SCN1Bc.282C>A (p.Gly94=)
c.183C>A (p.Gly61=)
c.208-139C>A (n.208-139C>A)
n.291C>A
19g.35033573C>GCA507297967SCN1Bc.282C>G (p.Gly94=)
c.183C>G (p.Gly61=)
c.208-139C>G (n.208-139C>G)
n.291C>G
19g.35033573C>TCA507297966SCN1Bc.282C>T (p.Gly94=)
c.183C>T (p.Gly61=)
c.208-139C>T (n.208-139C>T)
n.291C>T
 gnomAD v4
19g.35033574A>CCA405328693SCN1Bc.283A>C (p.Ser95Arg)
c.184A>C (p.Ser62Arg)
c.208-138A>C (n.208-138A>C)
n.292A>C
19g.35033574A>GCA405328694SCN1Bc.283A>G (p.Ser95Gly)
c.184A>G (p.Ser62Gly)
c.208-138A>G (n.208-138A>G)
n.292A>G
19g.35033574A>TCA405328695SCN1Bc.283A>T (p.Ser95Cys)
c.184A>T (p.Ser62Cys)
c.208-138A>T (n.208-138A>T)
n.292A>T
19g.35033575G>ACA405328696SCN1Bc.284G>A (p.Ser95Asn)
c.185G>A (p.Ser62Asn)
c.208-137G>A (n.208-137G>A)
n.293G>A
 ClinVar dbSNP
19g.35033575G>CCA405328697SCN1Bc.284G>C (p.Ser95Thr)
c.185G>C (p.Ser62Thr)
c.208-137G>C (n.208-137G>C)
n.293G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35033575G=CA2333467003SCN1Bc.284G= (p.Ser95=)
c.185G= (p.Ser62=)
c.208-137G= (n.208-137G=)
n.293G=
19g.35033575G>TCA405328698SCN1Bc.284G>T (p.Ser95Ile)
c.185G>T (p.Ser62Ile)
c.208-137G>T (n.208-137G>T)
n.293G>T
19g.35033576C>ACA405328699SCN1Bc.285C>A (p.Ser95Arg)
c.186C>A (p.Ser62Arg)
c.208-136C>A (n.208-136C>A)
n.294C>A
19g.35033576C=CA2333467004SCN1Bc.285C= (p.Ser95=)
c.186C= (p.Ser62=)
c.208-136C= (n.208-136C=)
n.294C=
19g.35033576C>GCA405328700SCN1Bc.285C>G (p.Ser95Arg)
c.186C>G (p.Ser62Arg)
c.208-136C>G (n.208-136C>G)
n.294C>G
19g.35033576C>TCA507297968SCN1Bc.285C>T (p.Ser95=)
c.186C>T (p.Ser62=)
c.208-136C>T (n.208-136C>T)
n.294C>T
 dbSNP gnomAD v3 gnomAD v4
19g.35033577C>ACA507297969SCN1Bc.286C>A (p.Arg96=)
c.187C>A (p.Arg63=)
c.208-135C>A (n.208-135C>A)
n.295C>A
 ClinVar
19g.35033577C=CA2333467005SCN1Bc.286C= (p.Arg96=)
c.187C= (p.Arg63=)
c.208-135C= (n.208-135C=)
n.295C=
19g.35033577C>GCA405328701SCN1Bc.286C>G (p.Arg96Gly)
c.187C>G (p.Arg63Gly)
c.208-135C>G (n.208-135C>G)
n.295C>G
19g.35033577C>TCA9372001SCN1Bc.286C>T (p.Arg96Trp)
c.187C>T (p.Arg63Trp)
c.208-135C>T (n.208-135C>T)
n.295C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033578G>ACA9372002SCN1Bc.287G>A (p.Arg96Gln)
c.188G>A (p.Arg63Gln)
c.208-134G>A (n.208-134G>A)
n.296G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033578G>CCA405328702SCN1Bc.287G>C (p.Arg96Pro)
c.188G>C (p.Arg63Pro)
c.208-134G>C (n.208-134G>C)
n.296G>C
19g.35033578G=CA2333467006SCN1Bc.287G= (p.Arg96=)
c.188G= (p.Arg63=)
c.208-134G= (n.208-134G=)
n.296G=
19g.35033578G>TCA405328703SCN1Bc.287G>T (p.Arg96Leu)
c.188G>T (p.Arg63Leu)
c.208-134G>T (n.208-134G>T)
n.296G>T
19g.35033579G>ACA507297970SCN1Bc.288G>A (p.Arg96=)
c.189G>A (p.Arg63=)
c.208-133G>A (n.208-133G>A)
n.297G>A
19g.35033579G>CCA507297971SCN1Bc.288G>C (p.Arg96=)
c.189G>C (p.Arg63=)
c.208-133G>C (n.208-133G>C)
n.297G>C
19g.35033579G>TCA507297972SCN1Bc.288G>T (p.Arg96=)
c.189G>T (p.Arg63=)
c.208-133G>T (n.208-133G>T)
n.297G>T
19g.35033580G>ACA405328704SCN1Bc.289G>A (p.Gly97Ser)
c.190G>A (p.Gly64Ser)
c.208-132G>A (n.208-132G>A)
n.298G>A
 ClinVar
19g.35033580G>CCA405328705SCN1Bc.289G>C (p.Gly97Arg)
c.190G>C (p.Gly64Arg)
c.208-132G>C (n.208-132G>C)
n.298G>C
 ClinVar
19g.35033580G>TCA405328706SCN1Bc.289G>T (p.Gly97Cys)
c.190G>T (p.Gly64Cys)
c.208-132G>T (n.208-132G>T)
n.298G>T
19g.35033581G>ACA405328707SCN1Bc.290G>A (p.Gly97Asp)
c.191G>A (p.Gly64Asp)
c.208-131G>A (n.208-131G>A)
n.299G>A
 ClinVar dbSNP gnomAD v4
19g.35033581G>CCA405328708SCN1Bc.290G>C (p.Gly97Ala)
c.191G>C (p.Gly64Ala)
c.208-131G>C (n.208-131G>C)
n.299G>C
 ClinVar dbSNP
19g.35033581G=CA2333467007SCN1Bc.290G= (p.Gly97=)
c.191G= (p.Gly64=)
c.208-131G= (n.208-131G=)
n.299G=
19g.35033581G>TCA405328709SCN1Bc.290G>T (p.Gly97Val)
c.191G>T (p.Gly64Val)
c.208-131G>T (n.208-131G>T)
n.299G>T
19g.35033582C>ACA507297973SCN1Bc.291C>A (p.Gly97=)
c.192C>A (p.Gly64=)
c.208-130C>A (n.208-130C>A)
n.300C>A
19g.35033582C=CA2333467008SCN1Bc.291C= (p.Gly97=)
c.192C= (p.Gly64=)
c.208-130C= (n.208-130C=)
n.300C=
19g.35033582C>GCA507297974SCN1Bc.291C>G (p.Gly97=)
c.192C>G (p.Gly64=)
c.208-130C>G (n.208-130C>G)
n.300C>G
19g.35033582C>TCA9372003SCN1Bc.291C>T (p.Gly97=)
c.192C>T (p.Gly64=)
c.208-130C>T (n.208-130C>T)
n.300C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033583A>CCA405328710SCN1Bc.292A>C (p.Thr98Pro)
c.193A>C (p.Thr65Pro)
c.208-129A>C (n.208-129A>C)
n.301A>C
19g.35033583A>GCA405328711SCN1Bc.292A>G (p.Thr98Ala)
c.193A>G (p.Thr65Ala)
c.208-129A>G (n.208-129A>G)
n.301A>G
19g.35033583A>TCA405328712SCN1Bc.292A>T (p.Thr98Ser)
c.193A>T (p.Thr65Ser)
c.208-129A>T (n.208-129A>T)
n.301A>T
19g.35033584C>ACA405328714SCN1Bc.293C>A (p.Thr98Asn)
c.194C>A (p.Thr65Asn)
c.208-128C>A (n.208-128C>A)
n.302C>A
19g.35033584C>GCA405328715SCN1Bc.293C>G (p.Thr98Ser)
c.194C>G (p.Thr65Ser)
c.208-128C>G (n.208-128C>G)
n.302C>G
19g.35033584C>TCA405328713SCN1Bc.293C>T (p.Thr98Ile)
c.194C>T (p.Thr65Ile)
c.208-128C>T (n.208-128C>T)
n.302C>T
19g.35033585C>ACA507297975SCN1Bc.294C>A (p.Thr98=)
c.195C>A (p.Thr65=)
c.208-127C>A (n.208-127C>A)
n.303C>A
19g.35033585C>GCA507297976SCN1Bc.294C>G (p.Thr98=)
c.195C>G (p.Thr65=)
c.208-127C>G (n.208-127C>G)
n.303C>G
19g.35033585C>TCA507297977SCN1Bc.294C>T (p.Thr98=)
c.195C>T (p.Thr65=)
c.208-127C>T (n.208-127C>T)
n.303C>T
 gnomAD v4
19g.35033586A=CA2333467009SCN1Bc.295A= (p.Lys99=)
c.196A= (p.Lys66=)
c.208-126A= (n.208-126A=)
n.304A=
19g.35033586A>CCA405328717SCN1Bc.295A>C (p.Lys99Gln)
c.196A>C (p.Lys66Gln)
c.208-126A>C (n.208-126A>C)
n.304A>C
19g.35033586A>GCA405328716SCN1Bc.295A>G (p.Lys99Glu)
c.196A>G (p.Lys66Glu)
c.208-126A>G (n.208-126A>G)
n.304A>G
 dbSNP gnomAD v3 gnomAD v4
19g.35033586A>TCA405328718SCN1Bc.295A>T (p.Lys99Ter)
c.196A>T (p.Lys66Ter)
c.208-126A>T (n.208-126A>T)
n.304A>T
 ClinVar dbSNP
19g.35033587A>CCA405328719SCN1Bc.296A>C (p.Lys99Thr)
c.197A>C (p.Lys66Thr)
c.208-125A>C (n.208-125A>C)
n.305A>C
19g.35033587A>GCA405328721SCN1Bc.296A>G (p.Lys99Arg)
c.197A>G (p.Lys66Arg)
c.208-125A>G (n.208-125A>G)
n.305A>G
 gnomAD v4
19g.35033587A>TCA405328720SCN1Bc.296A>T (p.Lys99Ile)
c.197A>T (p.Lys66Ile)
c.208-125A>T (n.208-125A>T)
n.305A>T
19g.35033588A>CCA405328722SCN1Bc.297A>C (p.Lys99Asn)
c.198A>C (p.Lys66Asn)
c.208-124A>C (n.208-124A>C)
n.306A>C
19g.35033588A>GCA507297978SCN1Bc.297A>G (p.Lys99=)
c.198A>G (p.Lys66=)
c.208-124A>G (n.208-124A>G)
n.306A>G
19g.35033588A>TCA405328723SCN1Bc.297A>T (p.Lys99Asn)
c.198A>T (p.Lys66Asn)
c.208-124A>T (n.208-124A>T)
n.306A>T
19g.35033589G>ACA405328724SCN1Bc.298G>A (p.Asp100Asn)
c.199G>A (p.Asp67Asn)
c.208-123G>A (n.208-123G>A)
n.307G>A
19g.35033589G>CCA405328725SCN1Bc.298G>C (p.Asp100His)
c.199G>C (p.Asp67His)
c.208-123G>C (n.208-123G>C)
n.307G>C
19g.35033589G>TCA405328726SCN1Bc.298G>T (p.Asp100Tyr)
c.199G>T (p.Asp67Tyr)
c.208-123G>T (n.208-123G>T)
n.307G>T
19g.35033590A=CA2333467010SCN1Bc.299A= (p.Asp100=)
c.200A= (p.Asp67=)
c.208-122A= (n.208-122A=)
n.308A=
19g.35033590A>CCA405328727SCN1Bc.299A>C (p.Asp100Ala)
c.200A>C (p.Asp67Ala)
c.208-122A>C (n.208-122A>C)
n.308A>C
 dbSNP
19g.35033590A>GCA405328728SCN1Bc.299A>G (p.Asp100Gly)
c.200A>G (p.Asp67Gly)
c.208-122A>G (n.208-122A>G)
n.308A>G
 ClinVar
19g.35033590A>TCA405328729SCN1Bc.299A>T (p.Asp100Val)
c.200A>T (p.Asp67Val)
c.208-122A>T (n.208-122A>T)
n.308A>T
19g.35033591C>ACA405328730SCN1Bc.300C>A (p.Asp100Glu)
c.201C>A (p.Asp67Glu)
c.208-121C>A (n.208-121C>A)
n.309C>A
19g.35033591C=CA2333467011SCN1Bc.300C= (p.Asp100=)
c.201C= (p.Asp67=)
c.208-121C= (n.208-121C=)
n.309C=
19g.35033591C>GCA405328731SCN1Bc.300C>G (p.Asp100Glu)
c.201C>G (p.Asp67Glu)
c.208-121C>G (n.208-121C>G)
n.309C>G
19g.35033591C>TCA293209SCN1Bc.300C>T (p.Asp100=)
c.201C>T (p.Asp67=)
c.208-121C>T (n.208-121C>T)
n.309C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033592C>ACA405328733SCN1Bc.301C>A (p.Leu101Met)
c.202C>A (p.Leu68Met)
c.208-120C>A (n.208-120C>A)
n.310C>A
19g.35033592C=CA2333467012SCN1Bc.301C= (p.Leu101=)
c.202C= (p.Leu68=)
c.208-120C= (n.208-120C=)
n.310C=
19g.35033592C>GCA405328732SCN1Bc.301C>G (p.Leu101Val)
c.202C>G (p.Leu68Val)
c.208-120C>G (n.208-120C>G)
n.310C>G
19g.35033592C>TCA507297979SCN1Bc.301C>T (p.Leu101=)
c.202C>T (p.Leu68=)
c.208-120C>T (n.208-120C>T)
n.310C>T
 dbSNP gnomAD v2 gnomAD v4
19g.35033593T>ACA405328734SCN1Bc.302T>A (p.Leu101Gln)
c.203T>A (p.Leu68Gln)
c.208-119T>A (n.208-119T>A)
n.311T>A
 gnomAD v4
19g.35033593T>CCA405328735SCN1Bc.302T>C (p.Leu101Pro)
c.203T>C (p.Leu68Pro)
c.208-119T>C (n.208-119T>C)
n.311T>C
19g.35033593T>GCA405328736SCN1Bc.302T>G (p.Leu101Arg)
c.203T>G (p.Leu68Arg)
c.208-119T>G (n.208-119T>G)
n.311T>G
19g.35033594G>ACA507297980SCN1Bc.303G>A (p.Leu101=)
c.204G>A (p.Leu68=)
c.208-118G>A (n.208-118G>A)
n.312G>A
19g.35033594G>CCA507297982SCN1Bc.303G>C (p.Leu101=)
c.204G>C (p.Leu68=)
c.208-118G>C (n.208-118G>C)
n.312G>C
19g.35033594G>TCA507297981SCN1Bc.303G>T (p.Leu101=)
c.204G>T (p.Leu68=)
c.208-118G>T (n.208-118G>T)
n.312G>T
19g.35033595C>ACA405328737SCN1Bc.304C>A (p.Gln102Lys)
c.205C>A (p.Gln69Lys)
c.208-117C>A (n.208-117C>A)
n.313C>A
19g.35033595C>GCA405328738SCN1Bc.304C>G (p.Gln102Glu)
c.205C>G (p.Gln69Glu)
c.208-117C>G (n.208-117C>G)
n.313C>G
19g.35033595C>TCA405328739SCN1Bc.304C>T (p.Gln102Ter)
c.205C>T (p.Gln69Ter)
c.208-117C>T (n.208-117C>T)
n.313C>T
 ClinVar dbSNP
19g.35033596A>CCA405328740SCN1Bc.305A>C (p.Gln102Pro)
c.206A>C (p.Gln69Pro)
c.208-116A>C (n.208-116A>C)
n.314A>C
19g.35033596A>GCA405328741SCN1Bc.305A>G (p.Gln102Arg)
c.206A>G (p.Gln69Arg)
c.208-116A>G (n.208-116A>G)
n.314A>G
19g.35033596A>TCA405328742SCN1Bc.305A>T (p.Gln102Leu)
c.206A>T (p.Gln69Leu)
c.208-116A>T (n.208-116A>T)
n.314A>T
19g.35033596_35033604delCA2573048345SCN1Bc.305_313del (p.Gln102_Ser105delinsPro)
c.206_214del (p.Gln69_Ser72delinsPro)
c.208-116_208-108del (n.208-116_208-108del)
n.314_322del
19g.35033597G>ACA507297983SCN1Bc.306G>A (p.Gln102=)
c.207G>A (p.Gln69=)
c.208-115G>A (n.208-115G>A)
n.315G>A
 gnomAD v4
19g.35033597G>CCA405328743SCN1Bc.306G>C (p.Gln102His)
c.207G>C (p.Gln69His)
c.208-115G>C (n.208-115G>C)
n.315G>C
19g.35033597G>TCA405328744SCN1Bc.306G>T (p.Gln102His)
c.207G>T (p.Gln69His)
c.208-115G>T (n.208-115G>T)
n.315G>T
19g.35033598G>ACA405328746SCN1Bc.307G>A (p.Asp103Asn)
c.208G>A (p.Asp70Asn)
c.208-114G>A (n.208-114G>A)
n.316G>A
 COSMIC COSMIC
19g.35033598G>CCA405328747SCN1Bc.307G>C (p.Asp103His)
c.208G>C (p.Asp70His)
c.208-114G>C (n.208-114G>C)
n.316G>C
19g.35033598G>TCA405328745SCN1Bc.307G>T (p.Asp103Tyr)
c.208G>T (p.Asp70Tyr)
c.208-114G>T (n.208-114G>T)
n.316G>T
19g.35033599A=CA2333467013SCN1Bc.308A= (p.Asp103=)
c.209A= (p.Asp70=)
c.208-113A= (n.208-113A=)
n.317A=
19g.35033599A>CCA405328748SCN1Bc.308A>C (p.Asp103Ala)
c.209A>C (p.Asp70Ala)
c.208-113A>C (n.208-113A>C)
n.317A>C
19g.35033599A>GCA405328749SCN1Bc.308A>G (p.Asp103Gly)
c.209A>G (p.Asp70Gly)
c.208-113A>G (n.208-113A>G)
n.317A>G
 dbSNP gnomAD v3 gnomAD v4
19g.35033599A>TCA16044237SCN1Bc.308A>T (p.Asp103Val)
c.209A>T (p.Asp70Val)
c.208-113A>T (n.208-113A>T)
n.317A>T
 ClinVar dbSNP gnomAD v4
19g.35033600T>ACA405328750SCN1Bc.309T>A (p.Asp103Glu)
c.210T>A (p.Asp70Glu)
c.208-112T>A (n.208-112T>A)
n.318T>A
19g.35033600T>CCA507297984SCN1Bc.309T>C (p.Asp103=)
c.210T>C (p.Asp70=)
c.208-112T>C (n.208-112T>C)
n.318T>C
19g.35033600T>GCA405328751SCN1Bc.309T>G (p.Asp103Glu)
c.210T>G (p.Asp70Glu)
c.208-112T>G (n.208-112T>G)
n.318T>G
19g.35033603_35033606delCA2580096800SCN1Bc.312_315del (p.Ile106SerfsTer?)
c.213_216del (p.Ile73SerfsTer?)
c.208-109_208-106del (n.208-109_208-106del)
n.321_324del
 ClinVar
19g.35033601C>ACA405328752SCN1Bc.310C>A (p.Leu104Met)
c.211C>A (p.Leu71Met)
c.208-111C>A (n.208-111C>A)
n.319C>A
 ClinVar dbSNP
19g.35033601C=CA2333467014SCN1Bc.310C= (p.Leu104=)
c.211C= (p.Leu71=)
c.208-111C= (n.208-111C=)
n.319C=
19g.35033601C>GCA405328753SCN1Bc.310C>G (p.Leu104Val)
c.211C>G (p.Leu71Val)
c.208-111C>G (n.208-111C>G)
n.319C>G
 dbSNP
19g.35033601C>TCA507297985SCN1Bc.310C>T (p.Leu104=)
c.211C>T (p.Leu71=)
c.208-111C>T (n.208-111C>T)
n.319C>T
 COSMIC COSMIC
19g.35033602T>ACA405328754SCN1Bc.311T>A (p.Leu104Gln)
c.212T>A (p.Leu71Gln)
c.208-110T>A (n.208-110T>A)
n.320T>A
19g.35033602T>CCA405328755SCN1Bc.311T>C (p.Leu104Pro)
c.212T>C (p.Leu71Pro)
c.208-110T>C (n.208-110T>C)
n.320T>C
19g.35033602T>GCA405328756SCN1Bc.311T>G (p.Leu104Arg)
c.212T>G (p.Leu71Arg)
c.208-110T>G (n.208-110T>G)
n.320T>G
19g.35033603G>ACA507297988SCN1Bc.312G>A (p.Leu104=)
c.213G>A (p.Leu71=)
c.208-109G>A (n.208-109G>A)
n.321G>A
 dbSNP gnomAD v2 gnomAD v4
19g.35033603G>CCA507297986SCN1Bc.312G>C (p.Leu104=)
c.213G>C (p.Leu71=)
c.208-109G>C (n.208-109G>C)
n.321G>C
19g.35033603G=CA2333467015SCN1Bc.312G= (p.Leu104=)
c.213G= (p.Leu71=)
c.208-109G= (n.208-109G=)
n.321G=
19g.35033603G>TCA507297987SCN1Bc.312G>T (p.Leu104=)
c.213G>T (p.Leu71=)
c.208-109G>T (n.208-109G>T)
n.321G>T
19g.35033604T>ACA405328757SCN1Bc.313T>A (p.Ser105Thr)
c.214T>A (p.Ser72Thr)
c.208-108T>A (n.208-108T>A)
n.322T>A
19g.35033604T>CCA405328758SCN1Bc.313T>C (p.Ser105Pro)
c.214T>C (p.Ser72Pro)
c.208-108T>C (n.208-108T>C)
n.322T>C
19g.35033604T>GCA405328759SCN1Bc.313T>G (p.Ser105Ala)
c.214T>G (p.Ser72Ala)
c.208-108T>G (n.208-108T>G)
n.322T>G
19g.35033605C>ACA405328762SCN1Bc.314C>A (p.Ser105Tyr)
c.215C>A (p.Ser72Tyr)
c.208-107C>A (n.208-107C>A)
n.323C>A
19g.35033605C>GCA405328761SCN1Bc.314C>G (p.Ser105Cys)
c.215C>G (p.Ser72Cys)
c.208-107C>G (n.208-107C>G)
n.323C>G
19g.35033605C>TCA405328760SCN1Bc.314C>T (p.Ser105Phe)
c.215C>T (p.Ser72Phe)
c.208-107C>T (n.208-107C>T)
n.323C>T
19g.35033606T>ACA507297989SCN1Bc.315T>A (p.Ser105=)
c.216T>A (p.Ser72=)
c.208-106T>A (n.208-106T>A)
n.324T>A
19g.35033606T>CCA507297990SCN1Bc.315T>C (p.Ser105=)
c.216T>C (p.Ser72=)
c.208-106T>C (n.208-106T>C)
n.324T>C
19g.35033606T>GCA507297991SCN1Bc.315T>G (p.Ser105=)
c.216T>G (p.Ser72=)
c.208-106T>G (n.208-106T>G)
n.324T>G
19g.35033606dupCA2557202311SCN1Bc.315dup (p.Ile106TyrfsTer?)
c.216dup (p.Ile73TyrfsTer?)
c.208-106dup (n.208-106dup)
n.324dup
19g.35033607A=CA2333467016SCN1Bc.316A= (p.Ile106=)
c.217A= (p.Ile73=)
c.208-105A= (n.208-105A=)
n.325A=
19g.35033607A>CCA405328763SCN1Bc.316A>C (p.Ile106Leu)
c.217A>C (p.Ile73Leu)
c.208-105A>C (n.208-105A>C)
n.325A>C
19g.35033607A>GCA307703640SCN1Bc.316A>G (p.Ile106Val)
c.217A>G (p.Ile73Val)
c.208-105A>G (n.208-105A>G)
n.325A>G
 ClinVar dbSNP gnomAD v4
19g.35033607A>TCA405328764SCN1Bc.316A>T (p.Ile106Phe)
c.217A>T (p.Ile73Phe)
c.208-105A>T (n.208-105A>T)
n.325A>T
 ClinVar dbSNP
19g.35033608T>ACA405328765SCN1Bc.317T>A (p.Ile106Asn)
c.218T>A (p.Ile73Asn)
c.208-104T>A (n.208-104T>A)
n.326T>A
19g.35033608T>CCA405328766SCN1Bc.317T>C (p.Ile106Thr)
c.218T>C (p.Ile73Thr)
c.208-104T>C (n.208-104T>C)
n.326T>C
19g.35033608T>GCA405328767SCN1Bc.317T>G (p.Ile106Ser)
c.218T>G (p.Ile73Ser)
c.208-104T>G (n.208-104T>G)
n.326T>G
19g.35033609C>ACA507297993SCN1Bc.318C>A (p.Ile106=)
c.219C>A (p.Ile73=)
c.208-103C>A (n.208-103C>A)
n.327C>A
19g.35033609C>GCA405328768SCN1Bc.318C>G (p.Ile106Met)
c.219C>G (p.Ile73Met)
c.208-103C>G (n.208-103C>G)
n.327C>G
19g.35033609C>TCA507297992SCN1Bc.318C>T (p.Ile106=)
c.219C>T (p.Ile73=)
c.208-103C>T (n.208-103C>T)
n.327C>T
19g.35033610T>ACA405328769SCN1Bc.319T>A (p.Phe107Ile)
c.220T>A (p.Phe74Ile)
c.208-102T>A (n.208-102T>A)
n.328T>A
19g.35033610T>CCA405328770SCN1Bc.319T>C (p.Phe107Leu)
c.220T>C (p.Phe74Leu)
c.208-102T>C (n.208-102T>C)
n.328T>C
19g.35033610T>GCA405328771SCN1Bc.319T>G (p.Phe107Val)
c.220T>G (p.Phe74Val)
c.208-102T>G (n.208-102T>G)
n.328T>G
19g.35033611T>ACA405328772SCN1Bc.320T>A (p.Phe107Tyr)
c.221T>A (p.Phe74Tyr)
c.208-101T>A (n.208-101T>A)
n.329T>A
19g.35033611T>CCA405328773SCN1Bc.320T>C (p.Phe107Ser)
c.221T>C (p.Phe74Ser)
c.208-101T>C (n.208-101T>C)
n.329T>C
19g.35033611T>GCA405328774SCN1Bc.320T>G (p.Phe107Cys)
c.221T>G (p.Phe74Cys)
c.208-101T>G (n.208-101T>G)
n.329T>G
19g.35033612C>ACA405328776SCN1Bc.321C>A (p.Phe107Leu)
c.222C>A (p.Phe74Leu)
c.208-100C>A (n.208-100C>A)
n.330C>A
19g.35033612C>GCA405328775SCN1Bc.321C>G (p.Phe107Leu)
c.222C>G (p.Phe74Leu)
c.208-100C>G (n.208-100C>G)
n.330C>G
19g.35033612C>TCA507297994SCN1Bc.321C>T (p.Phe107=)
c.222C>T (p.Phe74=)
c.208-100C>T (n.208-100C>T)
n.330C>T
19g.35033613A>CCA405328777SCN1Bc.322A>C (p.Ile108Leu)
c.223A>C (p.Ile75Leu)
c.208-99A>C (n.208-99A>C)
n.331A>C
19g.35033613A>GCA405328778SCN1Bc.322A>G (p.Ile108Val)
c.223A>G (p.Ile75Val)
c.208-99A>G (n.208-99A>G)
n.331A>G
19g.35033613A>TCA405328779SCN1Bc.322A>T (p.Ile108Phe)
c.223A>T (p.Ile75Phe)
c.208-99A>T (n.208-99A>T)
n.331A>T
19g.35033614T>ACA405328780SCN1Bc.323T>A (p.Ile108Asn)
c.224T>A (p.Ile75Asn)
c.208-98T>A (n.208-98T>A)
n.332T>A
19g.35033614T>CCA405328781SCN1Bc.323T>C (p.Ile108Thr)
c.224T>C (p.Ile75Thr)
c.208-98T>C (n.208-98T>C)
n.332T>C
19g.35033614T>GCA405328782SCN1Bc.323T>G (p.Ile108Ser)
c.224T>G (p.Ile75Ser)
c.208-98T>G (n.208-98T>G)
n.332T>G
19g.35033615C>ACA507297995SCN1Bc.324C>A (p.Ile108=)
c.225C>A (p.Ile75=)
c.208-97C>A (n.208-97C>A)
n.333C>A
19g.35033615C>GCA405328783SCN1Bc.324C>G (p.Ile108Met)
c.225C>G (p.Ile75Met)
c.208-97C>G (n.208-97C>G)
n.333C>G
19g.35033615C>TCA507297996SCN1Bc.324C>T (p.Ile108=)
c.225C>T (p.Ile75=)
c.208-97C>T (n.208-97C>T)
n.333C>T
 gnomAD v4
19g.35033616A>CCA405328786SCN1Bc.325A>C (p.Thr109Pro)
c.226A>C (p.Thr76Pro)
c.208-96A>C (n.208-96A>C)
n.334A>C
19g.35033616A>GCA405328784SCN1Bc.325A>G (p.Thr109Ala)
c.226A>G (p.Thr76Ala)
c.208-96A>G (n.208-96A>G)
n.334A>G
19g.35033616A>TCA405328785SCN1Bc.325A>T (p.Thr109Ser)
c.226A>T (p.Thr76Ser)
c.208-96A>T (n.208-96A>T)
n.334A>T
19g.35033617C>ACA405328787SCN1Bc.326C>A (p.Thr109Asn)
c.227C>A (p.Thr76Asn)
c.208-95C>A (n.208-95C>A)
n.335C>A
19g.35033617C>GCA405328788SCN1Bc.326C>G (p.Thr109Ser)
c.227C>G (p.Thr76Ser)
c.208-95C>G (n.208-95C>G)
n.335C>G
19g.35033617C>TCA405328789SCN1Bc.326C>T (p.Thr109Ile)
c.227C>T (p.Thr76Ile)
c.208-95C>T (n.208-95C>T)
n.335C>T
19g.35033618C>ACA507297997SCN1Bc.327C>A (p.Thr109=)
c.228C>A (p.Thr76=)
c.208-94C>A (n.208-94C>A)
n.336C>A
19g.35033618C>GCA507297998SCN1Bc.327C>G (p.Thr109=)
c.228C>G (p.Thr76=)
c.208-94C>G (n.208-94C>G)
n.336C>G
 gnomAD v4
19g.35033618C>TCA507297999SCN1Bc.327C>T (p.Thr109=)
c.228C>T (p.Thr76=)
c.208-94C>T (n.208-94C>T)
n.336C>T
 gnomAD v4 COSMIC COSMIC
19g.35033619A>CCA405328790SCN1Bc.328A>C (p.Asn110His)
c.229A>C (p.Asn77His)
c.208-93A>C (n.208-93A>C)
n.337A>C
19g.35033619A>GCA405328791SCN1Bc.328A>G (p.Asn110Asp)
c.229A>G (p.Asn77Asp)
c.208-93A>G (n.208-93A>G)
n.337A>G
19g.35033619A>TCA405328792SCN1Bc.328A>T (p.Asn110Tyr)
c.229A>T (p.Asn77Tyr)
c.208-93A>T (n.208-93A>T)
n.337A>T
19g.35033620A=CA2333467017SCN1Bc.329A= (p.Asn110=)
c.230A= (p.Asn77=)
c.208-92A= (n.208-92A=)
n.338A=
19g.35033620A>CCA405328793SCN1Bc.329A>C (p.Asn110Thr)
c.230A>C (p.Asn77Thr)
c.208-92A>C (n.208-92A>C)
n.338A>C
 gnomAD v4
19g.35033620A>GCA9372004SCN1Bc.329A>G (p.Asn110Ser)
c.230A>G (p.Asn77Ser)
c.208-92A>G (n.208-92A>G)
n.338A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35033620A>TCA405328794SCN1Bc.329A>T (p.Asn110Ile)
c.230A>T (p.Asn77Ile)
c.208-92A>T (n.208-92A>T)
n.338A>T
19g.35033621T>ACA405328795SCN1Bc.330T>A (p.Asn110Lys)
c.231T>A (p.Asn77Lys)
c.208-91T>A (n.208-91T>A)
n.339T>A
19g.35033621T>CCA9372005SCN1Bc.330T>C (p.Asn110=)
c.231T>C (p.Asn77=)
c.208-91T>C (n.208-91T>C)
n.339T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033621T>GCA405328796SCN1Bc.330T>G (p.Asn110Lys)
c.231T>G (p.Asn77Lys)
c.208-91T>G (n.208-91T>G)
n.339T>G
19g.35033621T=CA2333467018SCN1Bc.330T= (p.Asn110=)
c.231T= (p.Asn77=)
c.208-91T= (n.208-91T=)
n.339T=
19g.35033622G>ACA405328797SCN1Bc.331G>A (p.Val111Ile)
c.232G>A (p.Val78Ile)
c.208-90G>A (n.208-90G>A)
n.340G>A
 ClinVar dbSNP
19g.35033622G>CCA405328798SCN1Bc.331G>C (p.Val111Leu)
c.232G>C (p.Val78Leu)
c.208-90G>C (n.208-90G>C)
n.340G>C
19g.35033622G=CA2333467019SCN1Bc.331G= (p.Val111=)
c.232G= (p.Val78=)
c.208-90G= (n.208-90G=)
n.340G=
19g.35033622G>TCA405328799SCN1Bc.331G>T (p.Val111Phe)
c.232G>T (p.Val78Phe)
c.208-90G>T (n.208-90G>T)
n.340G>T
19g.35033623T>ACA405328800SCN1Bc.332T>A (p.Val111Asp)
c.233T>A (p.Val78Asp)
c.208-89T>A (n.208-89T>A)
n.341T>A
19g.35033623T>CCA405328801SCN1Bc.332T>C (p.Val111Ala)
c.233T>C (p.Val78Ala)
c.208-89T>C (n.208-89T>C)
n.341T>C
19g.35033623T>GCA405328802SCN1Bc.332T>G (p.Val111Gly)
c.233T>G (p.Val78Gly)
c.208-89T>G (n.208-89T>G)
n.341T>G
19g.35033624C>ACA507298002SCN1Bc.333C>A (p.Val111=)
c.234C>A (p.Val78=)
c.208-88C>A (n.208-88C>A)
n.342C>A
19g.35033624C>GCA507298000SCN1Bc.333C>G (p.Val111=)
c.234C>G (p.Val78=)
c.208-88C>G (n.208-88C>G)
n.342C>G
19g.35033624C>TCA507298001SCN1Bc.333C>T (p.Val111=)
c.234C>T (p.Val78=)
c.208-88C>T (n.208-88C>T)
n.342C>T
19g.35033625A=CA2333467020SCN1Bc.334A= (p.Thr112=)
c.235A= (p.Thr79=)
c.208-87A= (n.208-87A=)
n.343A=
19g.35033625A>CCA405328803SCN1Bc.334A>C (p.Thr112Pro)
c.235A>C (p.Thr79Pro)
c.208-87A>C (n.208-87A>C)
n.343A>C
 dbSNP
19g.35033625A>GCA405328804SCN1Bc.334A>G (p.Thr112Ala)
c.235A>G (p.Thr79Ala)
c.208-87A>G (n.208-87A>G)
n.343A>G
19g.35033625A>TCA405328805SCN1Bc.334A>T (p.Thr112Ser)
c.235A>T (p.Thr79Ser)
c.208-87A>T (n.208-87A>T)
n.343A>T
 dbSNP
19g.35033626C>ACA405328806SCN1Bc.335C>A (p.Thr112Asn)
c.236C>A (p.Thr79Asn)
c.208-86C>A (n.208-86C>A)
n.344C>A
19g.35033626C=CA2333467021SCN1Bc.335C= (p.Thr112=)
c.236C= (p.Thr79=)
c.208-86C= (n.208-86C=)
n.344C=
19g.35033626C>GCA405328808SCN1Bc.335C>G (p.Thr112Ser)
c.236C>G (p.Thr79Ser)
c.208-86C>G (n.208-86C>G)
n.344C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35033626C>TCA405328807SCN1Bc.335C>T (p.Thr112Ile)
c.236C>T (p.Thr79Ile)
c.208-86C>T (n.208-86C>T)
n.344C>T
 ClinVar
19g.35033627C>ACA507298003SCN1Bc.336C>A (p.Thr112=)
c.237C>A (p.Thr79=)
c.208-85C>A (n.208-85C>A)
n.345C>A
19g.35033627C>GCA507298004SCN1Bc.336C>G (p.Thr112=)
c.237C>G (p.Thr79=)
c.208-85C>G (n.208-85C>G)
n.345C>G
19g.35033627C>TCA507298005SCN1Bc.336C>T (p.Thr112=)
c.237C>T (p.Thr79=)
c.208-85C>T (n.208-85C>T)
n.345C>T
19g.35033628T>ACA405328809SCN1Bc.337T>A (p.Tyr113Asn)
c.238T>A (p.Tyr80Asn)
c.208-84T>A (n.208-84T>A)
n.346T>A
19g.35033628T>CCA405328810SCN1Bc.337T>C (p.Tyr113His)
c.238T>C (p.Tyr80His)
c.208-84T>C (n.208-84T>C)
n.346T>C
19g.35033628T>GCA405328811SCN1Bc.337T>G (p.Tyr113Asp)
c.238T>G (p.Tyr80Asp)
c.208-84T>G (n.208-84T>G)
n.346T>G
19g.35033629A=CA2333467022SCN1Bc.338A= (p.Tyr113=)
c.239A= (p.Tyr80=)
c.208-83A= (n.208-83A=)
n.347A=
19g.35033629A>CCA405328812SCN1Bc.338A>C (p.Tyr113Ser)
c.239A>C (p.Tyr80Ser)
c.208-83A>C (n.208-83A>C)
n.347A>C
19g.35033629A>GCA405328813SCN1Bc.338A>G (p.Tyr113Cys)
c.239A>G (p.Tyr80Cys)
c.208-83A>G (n.208-83A>G)
n.347A>G
 ClinVar dbSNP
19g.35033629A>TCA405328814SCN1Bc.338A>T (p.Tyr113Phe)
c.239A>T (p.Tyr80Phe)
c.208-83A>T (n.208-83A>T)
n.347A>T
19g.35033630C>ACA405328815SCN1Bc.339C>A (p.Tyr113Ter)
c.240C>A (p.Tyr80Ter)
c.208-82C>A (n.208-82C>A)
n.348C>A
19g.35033630C>GCA405328816SCN1Bc.339C>G (p.Tyr113Ter)
c.240C>G (p.Tyr80Ter)
c.208-82C>G (n.208-82C>G)
n.348C>G
19g.35033630C>TCA507298006SCN1Bc.339C>T (p.Tyr113=)
c.240C>T (p.Tyr80=)
c.208-82C>T (n.208-82C>T)
n.348C>T
 ClinVar
19g.35033631A>CCA405328817SCN1Bc.340A>C (p.Asn114His)
c.241A>C (p.Asn81His)
c.208-81A>C (n.208-81A>C)
n.349A>C
19g.35033631A>GCA405328818SCN1Bc.340A>G (p.Asn114Asp)
c.241A>G (p.Asn81Asp)
c.208-81A>G (n.208-81A>G)
n.349A>G
19g.35033631A>TCA405328819SCN1Bc.340A>T (p.Asn114Tyr)
c.241A>T (p.Asn81Tyr)
c.208-81A>T (n.208-81A>T)
n.349A>T
19g.35033631_35033637delCA2584414366SCN1Bc.340_346del (p.Asn114ArgfsTer?)
c.241_247del (p.Asn81ArgfsTer?)
c.208-81_208-75del (n.208-81_208-75del)
n.349_355del
 gnomAD v4
19g.35033632A=CA2333467023SCN1Bc.341A= (p.Asn114=)
c.242A= (p.Asn81=)
c.208-80A= (n.208-80A=)
n.350A=
19g.35033632A>CCA405328820SCN1Bc.341A>C (p.Asn114Thr)
c.242A>C (p.Asn81Thr)
c.208-80A>C (n.208-80A>C)
n.350A>C
19g.35033632A>GCA307703644SCN1Bc.341A>G (p.Asn114Ser)
c.242A>G (p.Asn81Ser)
c.208-80A>G (n.208-80A>G)
n.350A>G
 dbSNP gnomAD v4
19g.35033632A>TCA405328821SCN1Bc.341A>T (p.Asn114Ile)
c.242A>T (p.Asn81Ile)
c.208-80A>T (n.208-80A>T)
n.350A>T
19g.35033633C>ACA405328822SCN1Bc.342C>A (p.Asn114Lys)
c.243C>A (p.Asn81Lys)
c.208-79C>A (n.208-79C>A)
n.351C>A
19g.35033633C>GCA405328823SCN1Bc.342C>G (p.Asn114Lys)
c.243C>G (p.Asn81Lys)
c.208-79C>G (n.208-79C>G)
n.351C>G
19g.35033633C>TCA507298007SCN1Bc.342C>T (p.Asn114=)
c.243C>T (p.Asn81=)
c.208-79C>T (n.208-79C>T)
n.351C>T
19g.35033634C>ACA405328824SCN1Bc.343C>A (p.His115Asn)
c.244C>A (p.His82Asn)
c.208-78C>A (n.208-78C>A)
n.352C>A
19g.35033634C=CA2333467024SCN1Bc.343C= (p.His115=)
c.244C= (p.His82=)
c.208-78C= (n.208-78C=)
n.352C=
19g.35033634C>GCA405328825SCN1Bc.343C>G (p.His115Asp)
c.244C>G (p.His82Asp)
c.208-78C>G (n.208-78C>G)
n.352C>G
19g.35033634C>TCA405328826SCN1Bc.343C>T (p.His115Tyr)
c.244C>T (p.His82Tyr)
c.208-78C>T (n.208-78C>T)
n.352C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033635A>CCA405328827SCN1Bc.344A>C (p.His115Pro)
c.245A>C (p.His82Pro)
c.208-77A>C (n.208-77A>C)
n.353A>C
19g.35033635A>GCA405328828SCN1Bc.344A>G (p.His115Arg)
c.245A>G (p.His82Arg)
c.208-77A>G (n.208-77A>G)
n.353A>G
19g.35033635A>TCA405328829SCN1Bc.344A>T (p.His115Leu)
c.245A>T (p.His82Leu)
c.208-77A>T (n.208-77A>T)
n.353A>T
19g.35033636C>ACA405328830SCN1Bc.345C>A (p.His115Gln)
c.246C>A (p.His82Gln)
c.208-76C>A (n.208-76C>A)
n.354C>A
19g.35033636C>GCA405328831SCN1Bc.345C>G (p.His115Gln)
c.246C>G (p.His82Gln)
c.208-76C>G (n.208-76C>G)
n.354C>G
19g.35033636C>TCA507298008SCN1Bc.345C>T (p.His115=)
c.246C>T (p.His82=)
c.208-76C>T (n.208-76C>T)
n.354C>T
19g.35033637T>ACA405328832SCN1Bc.346T>A (p.Ser116Thr)
c.247T>A (p.Ser83Thr)
c.208-75T>A (n.208-75T>A)
n.355T>A
19g.35033637T>CCA405328833SCN1Bc.346T>C (p.Ser116Pro)
c.247T>C (p.Ser83Pro)
c.208-75T>C (n.208-75T>C)
n.355T>C
19g.35033637T>GCA405328834SCN1Bc.346T>G (p.Ser116Ala)
c.247T>G (p.Ser83Ala)
c.208-75T>G (n.208-75T>G)
n.355T>G
 ClinVar
19g.35033637_35033638delinsTCCA2333467025SCN1Bc.346_347delinsTC (p.Ser116=)
c.247_248delinsTC (p.Ser83=)
c.208-75_208-74delinsTC (n.208-75_208-74delinsTC)
n.355_356delinsTC
19g.35033638delCA275171SCN1Bc.347del (p.Ser116TrpfsTer?)
c.248del (p.Ser83TrpfsTer?)
c.208-74del (n.208-74del)
n.356del
 ClinVar dbSNP
19g.35033638C>ACA405328836SCN1Bc.347C>A (p.Ser116Ter)
c.248C>A (p.Ser83Ter)
c.208-74C>A (n.208-74C>A)
n.356C>A
 dbSNP gnomAD v4
19g.35033638C=CA2333467026SCN1Bc.347C= (p.Ser116=)
c.248C= (p.Ser83=)
c.208-74C= (n.208-74C=)
n.356C=
19g.35033638C>GCA405328835SCN1Bc.347C>G (p.Ser116Trp)
c.248C>G (p.Ser83Trp)
c.208-74C>G (n.208-74C>G)
n.356C>G
19g.35033638C>TCA405328837SCN1Bc.347C>T (p.Ser116Leu)
c.248C>T (p.Ser83Leu)
c.208-74C>T (n.208-74C>T)
n.356C>T
 ClinVar dbSNP gnomAD v4
19g.35033639G>ACA293212SCN1Bc.348G>A (p.Ser116=)
c.249G>A (p.Ser83=)
c.208-73G>A (n.208-73G>A)
n.357G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033639G>CCA507298010SCN1Bc.348G>C (p.Ser116=)
c.249G>C (p.Ser83=)
c.208-73G>C (n.208-73G>C)
n.357G>C
19g.35033639G=CA2333467027SCN1Bc.348G= (p.Ser116=)
c.249G= (p.Ser83=)
c.208-73G= (n.208-73G=)
n.357G=
19g.35033639G>TCA507298009SCN1Bc.348G>T (p.Ser116=)
c.249G>T (p.Ser83=)
c.208-73G>T (n.208-73G>T)
n.357G>T
19g.35033640G>ACA405328838SCN1Bc.349G>A (p.Gly117Ser)
c.250G>A (p.Gly84Ser)
c.208-72G>A (n.208-72G>A)
n.358G>A
 ClinVar gnomAD v4
19g.35033640G>CCA405328840SCN1Bc.349G>C (p.Gly117Arg)
c.250G>C (p.Gly84Arg)
c.208-72G>C (n.208-72G>C)
n.358G>C
19g.35033640G>TCA405328839SCN1Bc.349G>T (p.Gly117Cys)
c.250G>T (p.Gly84Cys)
c.208-72G>T (n.208-72G>T)
n.358G>T
19g.35033641G>ACA405328841SCN1Bc.350G>A (p.Gly117Asp)
c.251G>A (p.Gly84Asp)
c.208-71G>A (n.208-71G>A)
n.359G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033641G>CCA405328842SCN1Bc.350G>C (p.Gly117Ala)
c.251G>C (p.Gly84Ala)
c.208-71G>C (n.208-71G>C)
n.359G>C
19g.35033641G=CA2333467028SCN1Bc.350G= (p.Gly117=)
c.251G= (p.Gly84=)
c.208-71G= (n.208-71G=)
n.359G=
19g.35033641G>TCA405328843SCN1Bc.350G>T (p.Gly117Val)
c.251G>T (p.Gly84Val)
c.208-71G>T (n.208-71G>T)
n.359G>T
19g.35033642C>ACA507298012SCN1Bc.351C>A (p.Gly117=)
c.252C>A (p.Gly84=)
c.208-70C>A (n.208-70C>A)
n.360C>A
19g.35033642C=CA2333467029SCN1Bc.351C= (p.Gly117=)
c.252C= (p.Gly84=)
c.208-70C= (n.208-70C=)
n.360C=
19g.35033642C>GCA507298011SCN1Bc.351C>G (p.Gly117=)
c.252C>G (p.Gly84=)
c.208-70C>G (n.208-70C>G)
n.360C>G
19g.35033642C>TCA293214SCN1Bc.351C>T (p.Gly117=)
c.252C>T (p.Gly84=)
c.208-70C>T (n.208-70C>T)
n.360C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033643G>ACA405328844SCN1Bc.352G>A (p.Asp118Asn)
c.253G>A (p.Asp85Asn)
c.208-69G>A (n.208-69G>A)
n.361G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033643G>CCA405328845SCN1Bc.352G>C (p.Asp118His)
c.253G>C (p.Asp85His)
c.208-69G>C (n.208-69G>C)
n.361G>C
19g.35033643G=CA2333467030SCN1Bc.352G= (p.Asp118=)
c.253G= (p.Asp85=)
c.208-69G= (n.208-69G=)
n.361G=
19g.35033643G>TCA302157SCN1Bc.352G>T (p.Asp118Tyr)
c.253G>T (p.Asp85Tyr)
c.208-69G>T (n.208-69G>T)
n.361G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35033644A>CCA405328846SCN1Bc.353A>C (p.Asp118Ala)
c.254A>C (p.Asp85Ala)
c.208-68A>C (n.208-68A>C)
n.362A>C
19g.35033644A>GCA405328847SCN1Bc.353A>G (p.Asp118Gly)
c.254A>G (p.Asp85Gly)
c.208-68A>G (n.208-68A>G)
n.362A>G
19g.35033644A>TCA405328848SCN1Bc.353A>T (p.Asp118Val)
c.254A>T (p.Asp85Val)
c.208-68A>T (n.208-68A>T)
n.362A>T
19g.35033645C>ACA405328849SCN1Bc.354C>A (p.Asp118Glu)
c.255C>A (p.Asp85Glu)
c.208-67C>A (n.208-67C>A)
n.363C>A
19g.35033645C>GCA405328850SCN1Bc.354C>G (p.Asp118Glu)
c.255C>G (p.Asp85Glu)
c.208-67C>G (n.208-67C>G)
n.363C>G
19g.35033645C>TCA507298013SCN1Bc.354C>T (p.Asp118=)
c.255C>T (p.Asp85=)
c.208-67C>T (n.208-67C>T)
n.363C>T
19g.35033646T>ACA405328853SCN1Bc.355T>A (p.Tyr119Asn)
c.256T>A (p.Tyr86Asn)
c.208-66T>A (n.208-66T>A)
n.364T>A
19g.35033646T>CCA405328851SCN1Bc.355T>C (p.Tyr119His)
c.256T>C (p.Tyr86His)
c.208-66T>C (n.208-66T>C)
n.364T>C
19g.35033646T>GCA405328852SCN1Bc.355T>G (p.Tyr119Asp)
c.256T>G (p.Tyr86Asp)
c.208-66T>G (n.208-66T>G)
n.364T>G
 ClinVar dbSNP
19g.35033646T=CA2333467031SCN1Bc.355T= (p.Tyr119=)
c.256T= (p.Tyr86=)
c.208-66T= (n.208-66T=)
n.364T=
19g.35033647A>CCA405328854SCN1Bc.356A>C (p.Tyr119Ser)
c.257A>C (p.Tyr86Ser)
c.208-65A>C (n.208-65A>C)
n.365A>C
19g.35033647A>GCA405328855SCN1Bc.356A>G (p.Tyr119Cys)
c.257A>G (p.Tyr86Cys)
c.208-65A>G (n.208-65A>G)
n.365A>G
19g.35033647A>TCA405328856SCN1Bc.356A>T (p.Tyr119Phe)
c.257A>T (p.Tyr86Phe)
c.208-65A>T (n.208-65A>T)
n.365A>T
19g.35033648C>ACA405328857SCN1Bc.357C>A (p.Tyr119Ter)
c.258C>A (p.Tyr86Ter)
c.208-64C>A (n.208-64C>A)
n.366C>A
19g.35033648C=CA2333467032SCN1Bc.357C= (p.Tyr119=)
c.258C= (p.Tyr86=)
c.208-64C= (n.208-64C=)
n.366C=
19g.35033648C>GCA405328858SCN1Bc.357C>G (p.Tyr119Ter)
c.258C>G (p.Tyr86Ter)
c.208-64C>G (n.208-64C>G)
n.366C>G
19g.35033648C>TCA507298014SCN1Bc.357C>T (p.Tyr119=)
c.258C>T (p.Tyr86=)
c.208-64C>T (n.208-64C>T)
n.366C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35033649G>ACA9372006SCN1Bc.358G>A (p.Glu120Lys)
c.259G>A (p.Glu87Lys)
c.208-63G>A (n.208-63G>A)
n.367G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.35033649G>CCA405328859SCN1Bc.358G>C (p.Glu120Gln)
c.259G>C (p.Glu87Gln)
c.208-63G>C (n.208-63G>C)
n.367G>C
 dbSNP gnomAD v3 gnomAD v4
19g.35033649G=CA2333467033SCN1Bc.358G= (p.Glu120=)
c.259G= (p.Glu87=)
c.208-63G= (n.208-63G=)
n.367G=
19g.35033649G>TCA405328860SCN1Bc.358G>T (p.Glu120Ter)
c.259G>T (p.Glu87Ter)
c.208-63G>T (n.208-63G>T)
n.367G>T
 dbSNP
19g.35033650A>CCA405328861SCN1Bc.359A>C (p.Glu120Ala)
c.260A>C (p.Glu87Ala)
c.208-62A>C (n.208-62A>C)
n.368A>C
19g.35033650A>GCA405328862SCN1Bc.359A>G (p.Glu120Gly)
c.260A>G (p.Glu87Gly)
c.208-62A>G (n.208-62A>G)
n.368A>G
19g.35033650A>TCA405328863SCN1Bc.359A>T (p.Glu120Val)
c.260A>T (p.Glu87Val)
c.208-62A>T (n.208-62A>T)
n.368A>T
19g.35033651G>ACA507298116SCN1Bc.360G>A (p.Glu120=)
c.261G>A (p.Glu87=)
c.208-61G>A (n.208-61G>A)
n.369G>A
 ClinVar dbSNP gnomAD v4
19g.35033651G>CCA405328864SCN1Bc.360G>C (p.Glu120Asp)
c.261G>C (p.Glu87Asp)
c.208-61G>C (n.208-61G>C)
n.369G>C
19g.35033651G>TCA405328865SCN1Bc.360G>T (p.Glu120Asp)
c.261G>T (p.Glu87Asp)
c.208-61G>T (n.208-61G>T)
n.369G>T
19g.35033652T>ACA405328866SCN1Bc.361T>A (p.Cys121Ser)
c.262T>A (p.Cys88Ser)
c.208-60T>A (n.208-60T>A)
n.370T>A
19g.35033652T>CCA405328867SCN1Bc.361T>C (p.Cys121Arg)
c.262T>C (p.Cys88Arg)
c.208-60T>C (n.208-60T>C)
n.370T>C
19g.35033652T>GCA405328868SCN1Bc.361T>G (p.Cys121Gly)
c.262T>G (p.Cys88Gly)
c.208-60T>G (n.208-60T>G)
n.370T>G
19g.35033653G>ACA405328869SCN1Bc.362G>A (p.Cys121Tyr)
c.263G>A (p.Cys88Tyr)
c.208-59G>A (n.208-59G>A)
n.371G>A
19g.35033653G>CCA405328870SCN1Bc.362G>C (p.Cys121Ser)
c.263G>C (p.Cys88Ser)
c.208-59G>C (n.208-59G>C)
n.371G>C
19g.35033653G>TCA405328871SCN1Bc.362G>T (p.Cys121Phe)
c.263G>T (p.Cys88Phe)
c.208-59G>T (n.208-59G>T)
n.371G>T
19g.35033654C>ACA405328872SCN1Bc.363C>A (p.Cys121Ter)
c.264C>A (p.Cys88Ter)
c.208-58C>A (n.208-58C>A)
n.372C>A
 dbSNP
19g.35033654C=CA2333467034SCN1Bc.363C= (p.Cys121=)
c.264C= (p.Cys88=)
c.208-58C= (n.208-58C=)
n.372C=
19g.35033654C>GCA203839SCN1Bc.363C>G (p.Cys121Trp)
c.264C>G (p.Cys88Trp)
c.208-58C>G (n.208-58C>G)
n.372C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033654C>TCA307703655SCN1Bc.363C>T (p.Cys121=)
c.264C>T (p.Cys88=)
c.208-58C>T (n.208-58C>T)
n.372C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033655C>ACA405328873SCN1Bc.364C>A (p.His122Asn)
c.265C>A (p.His89Asn)
c.208-57C>A (n.208-57C>A)
n.373C>A
19g.35033655C>GCA405328874SCN1Bc.364C>G (p.His122Asp)
c.265C>G (p.His89Asp)
c.208-57C>G (n.208-57C>G)
n.373C>G
19g.35033655C>TCA405328875SCN1Bc.364C>T (p.His122Tyr)
c.265C>T (p.His89Tyr)
c.208-57C>T (n.208-57C>T)
n.373C>T
19g.35033656A>CCA405328878SCN1Bc.365A>C (p.His122Pro)
c.266A>C (p.His89Pro)
c.208-56A>C (n.208-56A>C)
n.374A>C
19g.35033656A>GCA405328876SCN1Bc.365A>G (p.His122Arg)
c.266A>G (p.His89Arg)
c.208-56A>G (n.208-56A>G)
n.374A>G
19g.35033656A>TCA405328877SCN1Bc.365A>T (p.His122Leu)
c.266A>T (p.His89Leu)
c.208-56A>T (n.208-56A>T)
n.374A>T
19g.35033657C>ACA9372008SCN1Bc.366C>A (p.His122Gln)
c.267C>A (p.His89Gln)
c.208-55C>A (n.208-55C>A)
n.375C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033657C=CA2333467035SCN1Bc.366C= (p.His122=)
c.267C= (p.His89=)
c.208-55C= (n.208-55C=)
n.375C=
19g.35033657C>GCA405328879SCN1Bc.366C>G (p.His122Gln)
c.267C>G (p.His89Gln)
c.208-55C>G (n.208-55C>G)
n.375C>G
19g.35033657C>TCA9372007SCN1Bc.366C>T (p.His122=)
c.267C>T (p.His89=)
c.208-55C>T (n.208-55C>T)
n.375C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033658G>ACA302159SCN1Bc.367G>A (p.Val123Ile)
c.268G>A (p.Val90Ile)
c.208-54G>A (n.208-54G>A)
n.376G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033658G>CCA405328880SCN1Bc.367G>C (p.Val123Leu)
c.268G>C (p.Val90Leu)
c.208-54G>C (n.208-54G>C)
n.376G>C
19g.35033658G=CA2333467036SCN1Bc.367G= (p.Val123=)
c.268G= (p.Val90=)
c.208-54G= (n.208-54G=)
n.376G=
19g.35033658G>TCA405328881SCN1Bc.367G>T (p.Val123Phe)
c.268G>T (p.Val90Phe)
c.208-54G>T (n.208-54G>T)
n.376G>T
 ClinVar dbSNP
19g.35033659T>ACA405328882SCN1Bc.368T>A (p.Val123Asp)
c.269T>A (p.Val90Asp)
c.208-53T>A (n.208-53T>A)
n.377T>A
19g.35033659T>CCA405328883SCN1Bc.368T>C (p.Val123Ala)
c.269T>C (p.Val90Ala)
c.208-53T>C (n.208-53T>C)
n.377T>C
 COSMIC COSMIC
19g.35033659T>GCA405328884SCN1Bc.368T>G (p.Val123Gly)
c.269T>G (p.Val90Gly)
c.208-53T>G (n.208-53T>G)
n.377T>G
19g.35033660C>ACA507298128SCN1Bc.369C>A (p.Val123=)
c.270C>A (p.Val90=)
c.208-52C>A (n.208-52C>A)
n.378C>A
 dbSNP gnomAD v3 gnomAD v4
19g.35033660C=CA2333467037SCN1Bc.369C= (p.Val123=)
c.270C= (p.Val90=)
c.208-52C= (n.208-52C=)
n.378C=
19g.35033660C>GCA507298129SCN1Bc.369C>G (p.Val123=)
c.270C>G (p.Val90=)
c.208-52C>G (n.208-52C>G)
n.378C>G
19g.35033660C>TCA507298130SCN1Bc.369C>T (p.Val123=)
c.270C>T (p.Val90=)
c.208-52C>T (n.208-52C>T)
n.378C>T
 gnomAD v4
19g.35033661T>ACA405328885SCN1Bc.370T>A (p.Tyr124Asn)
c.271T>A (p.Tyr91Asn)
c.208-51T>A (n.208-51T>A)
n.379T>A
19g.35033661T>CCA405328886SCN1Bc.370T>C (p.Tyr124His)
c.271T>C (p.Tyr91His)
c.208-51T>C (n.208-51T>C)
n.379T>C
19g.35033661T>GCA405328887SCN1Bc.370T>G (p.Tyr124Asp)
c.271T>G (p.Tyr91Asp)
c.208-51T>G (n.208-51T>G)
n.379T>G
19g.35033662A>CCA405328889SCN1Bc.371A>C (p.Tyr124Ser)
c.272A>C (p.Tyr91Ser)
c.208-50A>C (n.208-50A>C)
n.380A>C
19g.35033662A>GCA405328890SCN1Bc.371A>G (p.Tyr124Cys)
c.272A>G (p.Tyr91Cys)
c.208-50A>G (n.208-50A>G)
n.380A>G
19g.35033662A>TCA405328888SCN1Bc.371A>T (p.Tyr124Phe)
c.272A>T (p.Tyr91Phe)
c.208-50A>T (n.208-50A>T)
n.380A>T
19g.35033663C>ACA405328892SCN1Bc.372C>A (p.Tyr124Ter)
c.273C>A (p.Tyr91Ter)
c.208-49C>A (n.208-49C>A)
n.381C>A
19g.35033663C>GCA405328891SCN1Bc.372C>G (p.Tyr124Ter)
c.273C>G (p.Tyr91Ter)
c.208-49C>G (n.208-49C>G)
n.381C>G
19g.35033663C>TCA507298134SCN1Bc.372C>T (p.Tyr124=)
c.273C>T (p.Tyr91=)
c.208-49C>T (n.208-49C>T)
n.381C>T
 gnomAD v4
19g.35033664C>ACA405328893SCN1Bc.373C>A (p.Arg125Ser)
c.274C>A (p.Arg92Ser)
c.208-48C>A (n.208-48C>A)
n.382C>A
19g.35033664C=CA2333467038SCN1Bc.373C= (p.Arg125=)
c.274C= (p.Arg92=)
c.208-48C= (n.208-48C=)
n.382C=
19g.35033664C>GCA405328894SCN1Bc.373C>G (p.Arg125Gly)
c.274C>G (p.Arg92Gly)
c.208-48C>G (n.208-48C>G)
n.382C>G
 gnomAD v4
19g.35033664C>TCA405328895SCN1Bc.373C>T (p.Arg125Cys)
c.274C>T (p.Arg92Cys)
c.208-48C>T (n.208-48C>T)
n.382C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35033665G>ACA302194SCN1Bc.374G>A (p.Arg125His)
c.275G>A (p.Arg92His)
c.208-47G>A (n.208-47G>A)
n.383G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033665G>CCA405328896SCN1Bc.374G>C (p.Arg125Pro)
c.275G>C (p.Arg92Pro)
c.208-47G>C (n.208-47G>C)
n.383G>C
19g.35033665G=CA2333467039SCN1Bc.374G= (p.Arg125=)
c.275G= (p.Arg92=)
c.208-47G= (n.208-47G=)
n.383G=
19g.35033665G>TCA405328897SCN1Bc.374G>T (p.Arg125Leu)
c.275G>T (p.Arg92Leu)
c.208-47G>T (n.208-47G>T)
n.383G>T
 ClinVar dbSNP
19g.35033666C>ACA507298135SCN1Bc.375C>A (p.Arg125=)
c.276C>A (p.Arg92=)
c.208-46C>A (n.208-46C>A)
n.384C>A
19g.35033666C>GCA507298136SCN1Bc.375C>G (p.Arg125=)
c.276C>G (p.Arg92=)
c.208-46C>G (n.208-46C>G)
n.384C>G
19g.35033666C>TCA507298137SCN1Bc.375C>T (p.Arg125=)
c.276C>T (p.Arg92=)
c.208-46C>T (n.208-46C>T)
n.384C>T
19g.35033667C>ACA405328898SCN1Bc.376C>A (p.Leu126Met)
c.277C>A (p.Leu93Met)
c.208-45C>A (n.208-45C>A)
n.385C>A
 gnomAD v4
19g.35033667C>GCA405328899SCN1Bc.376C>G (p.Leu126Val)
c.277C>G (p.Leu93Val)
c.208-45C>G (n.208-45C>G)
n.385C>G
19g.35033667C>TCA507298138SCN1Bc.376C>T (p.Leu126=)
c.277C>T (p.Leu93=)
c.208-45C>T (n.208-45C>T)
n.385C>T
19g.35033668T>ACA405328900SCN1Bc.377T>A (p.Leu126Gln)
c.278T>A (p.Leu93Gln)
c.208-44T>A (n.208-44T>A)
n.386T>A
19g.35033668T>CCA405328901SCN1Bc.377T>C (p.Leu126Pro)
c.278T>C (p.Leu93Pro)
c.208-44T>C (n.208-44T>C)
n.386T>C
19g.35033668T>GCA405328902SCN1Bc.377T>G (p.Leu126Arg)
c.278T>G (p.Leu93Arg)
c.208-44T>G (n.208-44T>G)
n.386T>G
19g.35033669G>ACA507298140SCN1Bc.378G>A (p.Leu126=)
c.279G>A (p.Leu93=)
c.208-43G>A (n.208-43G>A)
n.387G>A
 ClinVar
19g.35033669G>CCA507298142SCN1Bc.378G>C (p.Leu126=)
c.279G>C (p.Leu93=)
c.208-43G>C (n.208-43G>C)
n.387G>C
19g.35033669G>TCA507298144SCN1Bc.378G>T (p.Leu126=)
c.279G>T (p.Leu93=)
c.208-43G>T (n.208-43G>T)
n.387G>T
19g.35033670C>ACA405328905SCN1Bc.379C>A (p.Leu127Ile)
c.280C>A (p.Leu94Ile)
c.208-42C>A (n.208-42C>A)
n.388C>A
19g.35033670C=CA2333467041SCN1Bc.379C= (p.Leu127=)
c.280C= (p.Leu94=)
c.208-42C= (n.208-42C=)
n.388C=
19g.35033670C>GCA405328903SCN1Bc.379C>G (p.Leu127Val)
c.280C>G (p.Leu94Val)
c.208-42C>G (n.208-42C>G)
n.388C>G
19g.35033670C>TCA405328904SCN1Bc.379C>T (p.Leu127Phe)
c.280C>T (p.Leu94Phe)
c.208-42C>T (n.208-42C>T)
n.388C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033670_35033673delinsCTCTCA2333467040SCN1Bc.379_382delinsCTCT (p.Leu127=)
c.280_283delinsCTCT (p.Leu94=)
c.208-42_208-39delinsCTCT (n.208-42_208-39delinsCTCT)
n.388_391delinsCTCT
19g.35033671T>ACA405328906SCN1Bc.380T>A (p.Leu127His)
c.281T>A (p.Leu94His)
c.208-41T>A (n.208-41T>A)
n.389T>A
19g.35033671T>CCA405328907SCN1Bc.380T>C (p.Leu127Pro)
c.281T>C (p.Leu94Pro)
c.208-41T>C (n.208-41T>C)
n.389T>C
19g.35033671T>GCA405328908SCN1Bc.380T>G (p.Leu127Arg)
c.281T>G (p.Leu94Arg)
c.208-41T>G (n.208-41T>G)
n.389T>G
19g.35033676_35033678delCA9372009SCN1Bc.385_387del (p.Phe129del)
c.286_288del (p.Phe96del)
c.208-36_208-34del (n.208-36_208-34del)
n.394_396del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35033672C>ACA507298147SCN1Bc.381C>A (p.Leu127=)
c.282C>A (p.Leu94=)
c.208-40C>A (n.208-40C>A)
n.390C>A
19g.35033672C=CA2333467042SCN1Bc.381C= (p.Leu127=)
c.282C= (p.Leu94=)
c.208-40C= (n.208-40C=)
n.390C=
19g.35033672C>GCA507298148SCN1Bc.381C>G (p.Leu127=)
c.282C>G (p.Leu94=)
c.208-40C>G (n.208-40C>G)
n.390C>G
 ClinVar
19g.35033672C>TCA507298149SCN1Bc.381C>T (p.Leu127=)
c.282C>T (p.Leu94=)
c.208-40C>T (n.208-40C>T)
n.390C>T
 dbSNP gnomAD v2 gnomAD v4
19g.35033673T>ACA405328909SCN1Bc.382T>A (p.Phe128Ile)
c.283T>A (p.Phe95Ile)
c.208-39T>A (n.208-39T>A)
n.391T>A
19g.35033673T>CCA405328910SCN1Bc.382T>C (p.Phe128Leu)
c.283T>C (p.Phe95Leu)
c.208-39T>C (n.208-39T>C)
n.391T>C
19g.35033673T>GCA405328911SCN1Bc.382T>G (p.Phe128Val)
c.283T>G (p.Phe95Val)
c.208-39T>G (n.208-39T>G)
n.391T>G

Number of alleles fetched