Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35033565T>A | CA405328672 | SCN1B | c.274T>A (p.Trp92Arg) c.175T>A (p.Trp59Arg) c.208-147T>A (n.208-147T>A) n.283T>A | |
19 | g.35033565T>C | CA405328670 | SCN1B | c.274T>C (p.Trp92Arg) c.175T>C (p.Trp59Arg) c.208-147T>C (n.208-147T>C) n.283T>C | ClinVar dbSNP |
19 | g.35033565T>G | CA405328671 | SCN1B | c.274T>G (p.Trp92Gly) c.175T>G (p.Trp59Gly) c.208-147T>G (n.208-147T>G) n.283T>G | |
19 | g.35033566G>A | CA405328673 | SCN1B | c.275G>A (p.Trp92Ter) c.176G>A (p.Trp59Ter) c.208-146G>A (n.208-146G>A) n.284G>A | |
19 | g.35033566G>C | CA405328674 | SCN1B | c.275G>C (p.Trp92Ser) c.176G>C (p.Trp59Ser) c.208-146G>C (n.208-146G>C) n.284G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35033566G= | CA2333467000 | SCN1B | c.275G= (p.Trp92=) c.176G= (p.Trp59=) c.208-146G= (n.208-146G=) n.284G= | |
19 | g.35033566G>T | CA405328675 | SCN1B | c.275G>T (p.Trp92Leu) c.176G>T (p.Trp59Leu) c.208-146G>T (n.208-146G>T) n.284G>T | |
19 | g.35033567G>A | CA405328676 | SCN1B | c.276G>A (p.Trp92Ter) c.177G>A (p.Trp59Ter) c.208-145G>A (n.208-145G>A) n.285G>A | dbSNP |
19 | g.35033567G>C | CA405328677 | SCN1B | c.276G>C (p.Trp92Cys) c.177G>C (p.Trp59Cys) c.208-145G>C (n.208-145G>C) n.285G>C | |
19 | g.35033567G= | CA2333467001 | SCN1B | c.276G= (p.Trp92=) c.177G= (p.Trp59=) c.208-145G= (n.208-145G=) n.285G= | |
19 | g.35033567G>T | CA405328678 | SCN1B | c.276G>T (p.Trp92Cys) c.177G>T (p.Trp59Cys) c.208-145G>T (n.208-145G>T) n.285G>T | |
19 | g.35033568A>C | CA405328679 | SCN1B | c.277A>C (p.Asn93His) c.178A>C (p.Asn60His) c.208-144A>C (n.208-144A>C) n.286A>C | |
19 | g.35033568A>G | CA405328680 | SCN1B | c.277A>G (p.Asn93Asp) c.178A>G (p.Asn60Asp) c.208-144A>G (n.208-144A>G) n.286A>G | |
19 | g.35033568A>T | CA405328681 | SCN1B | c.277A>T (p.Asn93Tyr) c.178A>T (p.Asn60Tyr) c.208-144A>T (n.208-144A>T) n.286A>T | gnomAD v4 |
19 | g.35033569A= | CA2333467002 | SCN1B | c.278A= (p.Asn93=) c.179A= (p.Asn60=) c.208-143A= (n.208-143A=) n.287A= | |
19 | g.35033569A>C | CA405328682 | SCN1B | c.278A>C (p.Asn93Thr) c.179A>C (p.Asn60Thr) c.208-143A>C (n.208-143A>C) n.287A>C | |
19 | g.35033569A>G | CA405328683 | SCN1B | c.278A>G (p.Asn93Ser) c.179A>G (p.Asn60Ser) c.208-143A>G (n.208-143A>G) n.287A>G | dbSNP |
19 | g.35033569A>T | CA405328684 | SCN1B | c.278A>T (p.Asn93Ile) c.179A>T (p.Asn60Ile) c.208-143A>T (n.208-143A>T) n.287A>T | |
19 | g.35033570T>A | CA405328685 | SCN1B | c.279T>A (p.Asn93Lys) c.180T>A (p.Asn60Lys) c.208-142T>A (n.208-142T>A) n.288T>A | |
19 | g.35033570T>C | CA507297964 | SCN1B | c.279T>C (p.Asn93=) c.180T>C (p.Asn60=) c.208-142T>C (n.208-142T>C) n.288T>C | |
19 | g.35033570T>G | CA405328686 | SCN1B | c.279T>G (p.Asn93Lys) c.180T>G (p.Asn60Lys) c.208-142T>G (n.208-142T>G) n.288T>G | |
19 | g.35033571G>A | CA405328687 | SCN1B | c.280G>A (p.Gly94Ser) c.181G>A (p.Gly61Ser) c.208-141G>A (n.208-141G>A) n.289G>A | |
19 | g.35033571G>C | CA405328688 | SCN1B | c.280G>C (p.Gly94Arg) c.181G>C (p.Gly61Arg) c.208-141G>C (n.208-141G>C) n.289G>C | |
19 | g.35033571G>T | CA405328689 | SCN1B | c.280G>T (p.Gly94Cys) c.181G>T (p.Gly61Cys) c.208-141G>T (n.208-141G>T) n.289G>T | |
19 | g.35033572G>A | CA405328690 | SCN1B | c.281G>A (p.Gly94Asp) c.182G>A (p.Gly61Asp) c.208-140G>A (n.208-140G>A) n.290G>A | |
19 | g.35033572G>C | CA405328691 | SCN1B | c.281G>C (p.Gly94Ala) c.182G>C (p.Gly61Ala) c.208-140G>C (n.208-140G>C) n.290G>C | |
19 | g.35033572G>T | CA405328692 | SCN1B | c.281G>T (p.Gly94Val) c.182G>T (p.Gly61Val) c.208-140G>T (n.208-140G>T) n.290G>T | ClinVar dbSNP |
19 | g.35033573C>A | CA507297965 | SCN1B | c.282C>A (p.Gly94=) c.183C>A (p.Gly61=) c.208-139C>A (n.208-139C>A) n.291C>A | |
19 | g.35033573C>G | CA507297967 | SCN1B | c.282C>G (p.Gly94=) c.183C>G (p.Gly61=) c.208-139C>G (n.208-139C>G) n.291C>G | |
19 | g.35033573C>T | CA507297966 | SCN1B | c.282C>T (p.Gly94=) c.183C>T (p.Gly61=) c.208-139C>T (n.208-139C>T) n.291C>T | gnomAD v4 |
19 | g.35033574A>C | CA405328693 | SCN1B | c.283A>C (p.Ser95Arg) c.184A>C (p.Ser62Arg) c.208-138A>C (n.208-138A>C) n.292A>C | |
19 | g.35033574A>G | CA405328694 | SCN1B | c.283A>G (p.Ser95Gly) c.184A>G (p.Ser62Gly) c.208-138A>G (n.208-138A>G) n.292A>G | |
19 | g.35033574A>T | CA405328695 | SCN1B | c.283A>T (p.Ser95Cys) c.184A>T (p.Ser62Cys) c.208-138A>T (n.208-138A>T) n.292A>T | |
19 | g.35033575G>A | CA405328696 | SCN1B | c.284G>A (p.Ser95Asn) c.185G>A (p.Ser62Asn) c.208-137G>A (n.208-137G>A) n.293G>A | ClinVar dbSNP |
19 | g.35033575G>C | CA405328697 | SCN1B | c.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 |
19 | g.35033575G= | CA2333467003 | SCN1B | c.284G= (p.Ser95=) c.185G= (p.Ser62=) c.208-137G= (n.208-137G=) n.293G= | |
19 | g.35033575G>T | CA405328698 | SCN1B | c.284G>T (p.Ser95Ile) c.185G>T (p.Ser62Ile) c.208-137G>T (n.208-137G>T) n.293G>T | |
19 | g.35033576C>A | CA405328699 | SCN1B | c.285C>A (p.Ser95Arg) c.186C>A (p.Ser62Arg) c.208-136C>A (n.208-136C>A) n.294C>A | |
19 | g.35033576C= | CA2333467004 | SCN1B | c.285C= (p.Ser95=) c.186C= (p.Ser62=) c.208-136C= (n.208-136C=) n.294C= | |
19 | g.35033576C>G | CA405328700 | SCN1B | c.285C>G (p.Ser95Arg) c.186C>G (p.Ser62Arg) c.208-136C>G (n.208-136C>G) n.294C>G | |
19 | g.35033576C>T | CA507297968 | SCN1B | c.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 |
19 | g.35033577C>A | CA507297969 | SCN1B | c.286C>A (p.Arg96=) c.187C>A (p.Arg63=) c.208-135C>A (n.208-135C>A) n.295C>A | ClinVar |
19 | g.35033577C= | CA2333467005 | SCN1B | c.286C= (p.Arg96=) c.187C= (p.Arg63=) c.208-135C= (n.208-135C=) n.295C= | |
19 | g.35033577C>G | CA405328701 | SCN1B | c.286C>G (p.Arg96Gly) c.187C>G (p.Arg63Gly) c.208-135C>G (n.208-135C>G) n.295C>G | |
19 | g.35033577C>T | CA9372001 | SCN1B | c.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 |
19 | g.35033578G>A | CA9372002 | SCN1B | c.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 |
19 | g.35033578G>C | CA405328702 | SCN1B | c.287G>C (p.Arg96Pro) c.188G>C (p.Arg63Pro) c.208-134G>C (n.208-134G>C) n.296G>C | |
19 | g.35033578G= | CA2333467006 | SCN1B | c.287G= (p.Arg96=) c.188G= (p.Arg63=) c.208-134G= (n.208-134G=) n.296G= | |
19 | g.35033578G>T | CA405328703 | SCN1B | c.287G>T (p.Arg96Leu) c.188G>T (p.Arg63Leu) c.208-134G>T (n.208-134G>T) n.296G>T | |
19 | g.35033579G>A | CA507297970 | SCN1B | c.288G>A (p.Arg96=) c.189G>A (p.Arg63=) c.208-133G>A (n.208-133G>A) n.297G>A | |
19 | g.35033579G>C | CA507297971 | SCN1B | c.288G>C (p.Arg96=) c.189G>C (p.Arg63=) c.208-133G>C (n.208-133G>C) n.297G>C | |
19 | g.35033579G>T | CA507297972 | SCN1B | c.288G>T (p.Arg96=) c.189G>T (p.Arg63=) c.208-133G>T (n.208-133G>T) n.297G>T | |
19 | g.35033580G>A | CA405328704 | SCN1B | c.289G>A (p.Gly97Ser) c.190G>A (p.Gly64Ser) c.208-132G>A (n.208-132G>A) n.298G>A | ClinVar |
19 | g.35033580G>C | CA405328705 | SCN1B | c.289G>C (p.Gly97Arg) c.190G>C (p.Gly64Arg) c.208-132G>C (n.208-132G>C) n.298G>C | ClinVar |
19 | g.35033580G>T | CA405328706 | SCN1B | c.289G>T (p.Gly97Cys) c.190G>T (p.Gly64Cys) c.208-132G>T (n.208-132G>T) n.298G>T | |
19 | g.35033581G>A | CA405328707 | SCN1B | c.290G>A (p.Gly97Asp) c.191G>A (p.Gly64Asp) c.208-131G>A (n.208-131G>A) n.299G>A | ClinVar dbSNP gnomAD v4 |
19 | g.35033581G>C | CA405328708 | SCN1B | c.290G>C (p.Gly97Ala) c.191G>C (p.Gly64Ala) c.208-131G>C (n.208-131G>C) n.299G>C | ClinVar dbSNP |
19 | g.35033581G= | CA2333467007 | SCN1B | c.290G= (p.Gly97=) c.191G= (p.Gly64=) c.208-131G= (n.208-131G=) n.299G= | |
19 | g.35033581G>T | CA405328709 | SCN1B | c.290G>T (p.Gly97Val) c.191G>T (p.Gly64Val) c.208-131G>T (n.208-131G>T) n.299G>T | |
19 | g.35033582C>A | CA507297973 | SCN1B | c.291C>A (p.Gly97=) c.192C>A (p.Gly64=) c.208-130C>A (n.208-130C>A) n.300C>A | |
19 | g.35033582C= | CA2333467008 | SCN1B | c.291C= (p.Gly97=) c.192C= (p.Gly64=) c.208-130C= (n.208-130C=) n.300C= | |
19 | g.35033582C>G | CA507297974 | SCN1B | c.291C>G (p.Gly97=) c.192C>G (p.Gly64=) c.208-130C>G (n.208-130C>G) n.300C>G | |
19 | g.35033582C>T | CA9372003 | SCN1B | c.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 |
19 | g.35033583A>C | CA405328710 | SCN1B | c.292A>C (p.Thr98Pro) c.193A>C (p.Thr65Pro) c.208-129A>C (n.208-129A>C) n.301A>C | |
19 | g.35033583A>G | CA405328711 | SCN1B | c.292A>G (p.Thr98Ala) c.193A>G (p.Thr65Ala) c.208-129A>G (n.208-129A>G) n.301A>G | |
19 | g.35033583A>T | CA405328712 | SCN1B | c.292A>T (p.Thr98Ser) c.193A>T (p.Thr65Ser) c.208-129A>T (n.208-129A>T) n.301A>T | |
19 | g.35033584C>A | CA405328714 | SCN1B | c.293C>A (p.Thr98Asn) c.194C>A (p.Thr65Asn) c.208-128C>A (n.208-128C>A) n.302C>A | |
19 | g.35033584C>G | CA405328715 | SCN1B | c.293C>G (p.Thr98Ser) c.194C>G (p.Thr65Ser) c.208-128C>G (n.208-128C>G) n.302C>G | |
19 | g.35033584C>T | CA405328713 | SCN1B | c.293C>T (p.Thr98Ile) c.194C>T (p.Thr65Ile) c.208-128C>T (n.208-128C>T) n.302C>T | |
19 | g.35033585C>A | CA507297975 | SCN1B | c.294C>A (p.Thr98=) c.195C>A (p.Thr65=) c.208-127C>A (n.208-127C>A) n.303C>A | |
19 | g.35033585C>G | CA507297976 | SCN1B | c.294C>G (p.Thr98=) c.195C>G (p.Thr65=) c.208-127C>G (n.208-127C>G) n.303C>G | |
19 | g.35033585C>T | CA507297977 | SCN1B | c.294C>T (p.Thr98=) c.195C>T (p.Thr65=) c.208-127C>T (n.208-127C>T) n.303C>T | gnomAD v4 |
19 | g.35033586A= | CA2333467009 | SCN1B | c.295A= (p.Lys99=) c.196A= (p.Lys66=) c.208-126A= (n.208-126A=) n.304A= | |
19 | g.35033586A>C | CA405328717 | SCN1B | c.295A>C (p.Lys99Gln) c.196A>C (p.Lys66Gln) c.208-126A>C (n.208-126A>C) n.304A>C | |
19 | g.35033586A>G | CA405328716 | SCN1B | c.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 |
19 | g.35033586A>T | CA405328718 | SCN1B | c.295A>T (p.Lys99Ter) c.196A>T (p.Lys66Ter) c.208-126A>T (n.208-126A>T) n.304A>T | ClinVar dbSNP |
19 | g.35033587A>C | CA405328719 | SCN1B | c.296A>C (p.Lys99Thr) c.197A>C (p.Lys66Thr) c.208-125A>C (n.208-125A>C) n.305A>C | |
19 | g.35033587A>G | CA405328721 | SCN1B | c.296A>G (p.Lys99Arg) c.197A>G (p.Lys66Arg) c.208-125A>G (n.208-125A>G) n.305A>G | gnomAD v4 |
19 | g.35033587A>T | CA405328720 | SCN1B | c.296A>T (p.Lys99Ile) c.197A>T (p.Lys66Ile) c.208-125A>T (n.208-125A>T) n.305A>T | |
19 | g.35033588A>C | CA405328722 | SCN1B | c.297A>C (p.Lys99Asn) c.198A>C (p.Lys66Asn) c.208-124A>C (n.208-124A>C) n.306A>C | |
19 | g.35033588A>G | CA507297978 | SCN1B | c.297A>G (p.Lys99=) c.198A>G (p.Lys66=) c.208-124A>G (n.208-124A>G) n.306A>G | |
19 | g.35033588A>T | CA405328723 | SCN1B | c.297A>T (p.Lys99Asn) c.198A>T (p.Lys66Asn) c.208-124A>T (n.208-124A>T) n.306A>T | |
19 | g.35033589G>A | CA405328724 | SCN1B | c.298G>A (p.Asp100Asn) c.199G>A (p.Asp67Asn) c.208-123G>A (n.208-123G>A) n.307G>A | |
19 | g.35033589G>C | CA405328725 | SCN1B | c.298G>C (p.Asp100His) c.199G>C (p.Asp67His) c.208-123G>C (n.208-123G>C) n.307G>C | |
19 | g.35033589G>T | CA405328726 | SCN1B | c.298G>T (p.Asp100Tyr) c.199G>T (p.Asp67Tyr) c.208-123G>T (n.208-123G>T) n.307G>T | |
19 | g.35033590A= | CA2333467010 | SCN1B | c.299A= (p.Asp100=) c.200A= (p.Asp67=) c.208-122A= (n.208-122A=) n.308A= | |
19 | g.35033590A>C | CA405328727 | SCN1B | c.299A>C (p.Asp100Ala) c.200A>C (p.Asp67Ala) c.208-122A>C (n.208-122A>C) n.308A>C | dbSNP |
19 | g.35033590A>G | CA405328728 | SCN1B | c.299A>G (p.Asp100Gly) c.200A>G (p.Asp67Gly) c.208-122A>G (n.208-122A>G) n.308A>G | ClinVar |
19 | g.35033590A>T | CA405328729 | SCN1B | c.299A>T (p.Asp100Val) c.200A>T (p.Asp67Val) c.208-122A>T (n.208-122A>T) n.308A>T | |
19 | g.35033591C>A | CA405328730 | SCN1B | c.300C>A (p.Asp100Glu) c.201C>A (p.Asp67Glu) c.208-121C>A (n.208-121C>A) n.309C>A | |
19 | g.35033591C= | CA2333467011 | SCN1B | c.300C= (p.Asp100=) c.201C= (p.Asp67=) c.208-121C= (n.208-121C=) n.309C= | |
19 | g.35033591C>G | CA405328731 | SCN1B | c.300C>G (p.Asp100Glu) c.201C>G (p.Asp67Glu) c.208-121C>G (n.208-121C>G) n.309C>G | |
19 | g.35033591C>T | CA293209 | SCN1B | c.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 |
19 | g.35033592C>A | CA405328733 | SCN1B | c.301C>A (p.Leu101Met) c.202C>A (p.Leu68Met) c.208-120C>A (n.208-120C>A) n.310C>A | |
19 | g.35033592C= | CA2333467012 | SCN1B | c.301C= (p.Leu101=) c.202C= (p.Leu68=) c.208-120C= (n.208-120C=) n.310C= | |
19 | g.35033592C>G | CA405328732 | SCN1B | c.301C>G (p.Leu101Val) c.202C>G (p.Leu68Val) c.208-120C>G (n.208-120C>G) n.310C>G | |
19 | g.35033592C>T | CA507297979 | SCN1B | c.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 |
19 | g.35033593T>A | CA405328734 | SCN1B | c.302T>A (p.Leu101Gln) c.203T>A (p.Leu68Gln) c.208-119T>A (n.208-119T>A) n.311T>A | gnomAD v4 |
19 | g.35033593T>C | CA405328735 | SCN1B | c.302T>C (p.Leu101Pro) c.203T>C (p.Leu68Pro) c.208-119T>C (n.208-119T>C) n.311T>C | |
19 | g.35033593T>G | CA405328736 | SCN1B | c.302T>G (p.Leu101Arg) c.203T>G (p.Leu68Arg) c.208-119T>G (n.208-119T>G) n.311T>G | |
19 | g.35033594G>A | CA507297980 | SCN1B | c.303G>A (p.Leu101=) c.204G>A (p.Leu68=) c.208-118G>A (n.208-118G>A) n.312G>A | |
19 | g.35033594G>C | CA507297982 | SCN1B | c.303G>C (p.Leu101=) c.204G>C (p.Leu68=) c.208-118G>C (n.208-118G>C) n.312G>C | |
19 | g.35033594G>T | CA507297981 | SCN1B | c.303G>T (p.Leu101=) c.204G>T (p.Leu68=) c.208-118G>T (n.208-118G>T) n.312G>T | |
19 | g.35033595C>A | CA405328737 | SCN1B | c.304C>A (p.Gln102Lys) c.205C>A (p.Gln69Lys) c.208-117C>A (n.208-117C>A) n.313C>A | |
19 | g.35033595C>G | CA405328738 | SCN1B | c.304C>G (p.Gln102Glu) c.205C>G (p.Gln69Glu) c.208-117C>G (n.208-117C>G) n.313C>G | |
19 | g.35033595C>T | CA405328739 | SCN1B | c.304C>T (p.Gln102Ter) c.205C>T (p.Gln69Ter) c.208-117C>T (n.208-117C>T) n.313C>T | ClinVar dbSNP |
19 | g.35033596A>C | CA405328740 | SCN1B | c.305A>C (p.Gln102Pro) c.206A>C (p.Gln69Pro) c.208-116A>C (n.208-116A>C) n.314A>C | |
19 | g.35033596A>G | CA405328741 | SCN1B | c.305A>G (p.Gln102Arg) c.206A>G (p.Gln69Arg) c.208-116A>G (n.208-116A>G) n.314A>G | |
19 | g.35033596A>T | CA405328742 | SCN1B | c.305A>T (p.Gln102Leu) c.206A>T (p.Gln69Leu) c.208-116A>T (n.208-116A>T) n.314A>T | |
19 | g.35033596_35033604del | CA2573048345 | SCN1B | c.305_313del (p.Gln102_Ser105delinsPro) c.206_214del (p.Gln69_Ser72delinsPro) c.208-116_208-108del (n.208-116_208-108del) n.314_322del | |
19 | g.35033597G>A | CA507297983 | SCN1B | c.306G>A (p.Gln102=) c.207G>A (p.Gln69=) c.208-115G>A (n.208-115G>A) n.315G>A | gnomAD v4 |
19 | g.35033597G>C | CA405328743 | SCN1B | c.306G>C (p.Gln102His) c.207G>C (p.Gln69His) c.208-115G>C (n.208-115G>C) n.315G>C | |
19 | g.35033597G>T | CA405328744 | SCN1B | c.306G>T (p.Gln102His) c.207G>T (p.Gln69His) c.208-115G>T (n.208-115G>T) n.315G>T | |
19 | g.35033598G>A | CA405328746 | SCN1B | c.307G>A (p.Asp103Asn) c.208G>A (p.Asp70Asn) c.208-114G>A (n.208-114G>A) n.316G>A | COSMIC COSMIC |
19 | g.35033598G>C | CA405328747 | SCN1B | c.307G>C (p.Asp103His) c.208G>C (p.Asp70His) c.208-114G>C (n.208-114G>C) n.316G>C | |
19 | g.35033598G>T | CA405328745 | SCN1B | c.307G>T (p.Asp103Tyr) c.208G>T (p.Asp70Tyr) c.208-114G>T (n.208-114G>T) n.316G>T | |
19 | g.35033599A= | CA2333467013 | SCN1B | c.308A= (p.Asp103=) c.209A= (p.Asp70=) c.208-113A= (n.208-113A=) n.317A= | |
19 | g.35033599A>C | CA405328748 | SCN1B | c.308A>C (p.Asp103Ala) c.209A>C (p.Asp70Ala) c.208-113A>C (n.208-113A>C) n.317A>C | |
19 | g.35033599A>G | CA405328749 | SCN1B | c.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 |
19 | g.35033599A>T | CA16044237 | SCN1B | c.308A>T (p.Asp103Val) c.209A>T (p.Asp70Val) c.208-113A>T (n.208-113A>T) n.317A>T | ClinVar dbSNP gnomAD v4 |
19 | g.35033600T>A | CA405328750 | SCN1B | c.309T>A (p.Asp103Glu) c.210T>A (p.Asp70Glu) c.208-112T>A (n.208-112T>A) n.318T>A | |
19 | g.35033600T>C | CA507297984 | SCN1B | c.309T>C (p.Asp103=) c.210T>C (p.Asp70=) c.208-112T>C (n.208-112T>C) n.318T>C | |
19 | g.35033600T>G | CA405328751 | SCN1B | c.309T>G (p.Asp103Glu) c.210T>G (p.Asp70Glu) c.208-112T>G (n.208-112T>G) n.318T>G | |
19 | g.35033603_35033606del | CA2580096800 | SCN1B | c.312_315del (p.Ile106SerfsTer?) c.213_216del (p.Ile73SerfsTer?) c.208-109_208-106del (n.208-109_208-106del) n.321_324del | ClinVar |
19 | g.35033601C>A | CA405328752 | SCN1B | c.310C>A (p.Leu104Met) c.211C>A (p.Leu71Met) c.208-111C>A (n.208-111C>A) n.319C>A | ClinVar dbSNP |
19 | g.35033601C= | CA2333467014 | SCN1B | c.310C= (p.Leu104=) c.211C= (p.Leu71=) c.208-111C= (n.208-111C=) n.319C= | |
19 | g.35033601C>G | CA405328753 | SCN1B | c.310C>G (p.Leu104Val) c.211C>G (p.Leu71Val) c.208-111C>G (n.208-111C>G) n.319C>G | dbSNP |
19 | g.35033601C>T | CA507297985 | SCN1B | c.310C>T (p.Leu104=) c.211C>T (p.Leu71=) c.208-111C>T (n.208-111C>T) n.319C>T | COSMIC COSMIC |
19 | g.35033602T>A | CA405328754 | SCN1B | c.311T>A (p.Leu104Gln) c.212T>A (p.Leu71Gln) c.208-110T>A (n.208-110T>A) n.320T>A | |
19 | g.35033602T>C | CA405328755 | SCN1B | c.311T>C (p.Leu104Pro) c.212T>C (p.Leu71Pro) c.208-110T>C (n.208-110T>C) n.320T>C | |
19 | g.35033602T>G | CA405328756 | SCN1B | c.311T>G (p.Leu104Arg) c.212T>G (p.Leu71Arg) c.208-110T>G (n.208-110T>G) n.320T>G | |
19 | g.35033603G>A | CA507297988 | SCN1B | c.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 |
19 | g.35033603G>C | CA507297986 | SCN1B | c.312G>C (p.Leu104=) c.213G>C (p.Leu71=) c.208-109G>C (n.208-109G>C) n.321G>C | |
19 | g.35033603G= | CA2333467015 | SCN1B | c.312G= (p.Leu104=) c.213G= (p.Leu71=) c.208-109G= (n.208-109G=) n.321G= | |
19 | g.35033603G>T | CA507297987 | SCN1B | c.312G>T (p.Leu104=) c.213G>T (p.Leu71=) c.208-109G>T (n.208-109G>T) n.321G>T | |
19 | g.35033604T>A | CA405328757 | SCN1B | c.313T>A (p.Ser105Thr) c.214T>A (p.Ser72Thr) c.208-108T>A (n.208-108T>A) n.322T>A | |
19 | g.35033604T>C | CA405328758 | SCN1B | c.313T>C (p.Ser105Pro) c.214T>C (p.Ser72Pro) c.208-108T>C (n.208-108T>C) n.322T>C | |
19 | g.35033604T>G | CA405328759 | SCN1B | c.313T>G (p.Ser105Ala) c.214T>G (p.Ser72Ala) c.208-108T>G (n.208-108T>G) n.322T>G | |
19 | g.35033605C>A | CA405328762 | SCN1B | c.314C>A (p.Ser105Tyr) c.215C>A (p.Ser72Tyr) c.208-107C>A (n.208-107C>A) n.323C>A | |
19 | g.35033605C>G | CA405328761 | SCN1B | c.314C>G (p.Ser105Cys) c.215C>G (p.Ser72Cys) c.208-107C>G (n.208-107C>G) n.323C>G | |
19 | g.35033605C>T | CA405328760 | SCN1B | c.314C>T (p.Ser105Phe) c.215C>T (p.Ser72Phe) c.208-107C>T (n.208-107C>T) n.323C>T | |
19 | g.35033606T>A | CA507297989 | SCN1B | c.315T>A (p.Ser105=) c.216T>A (p.Ser72=) c.208-106T>A (n.208-106T>A) n.324T>A | |
19 | g.35033606T>C | CA507297990 | SCN1B | c.315T>C (p.Ser105=) c.216T>C (p.Ser72=) c.208-106T>C (n.208-106T>C) n.324T>C | |
19 | g.35033606T>G | CA507297991 | SCN1B | c.315T>G (p.Ser105=) c.216T>G (p.Ser72=) c.208-106T>G (n.208-106T>G) n.324T>G | |
19 | g.35033606dup | CA2557202311 | SCN1B | c.315dup (p.Ile106TyrfsTer?) c.216dup (p.Ile73TyrfsTer?) c.208-106dup (n.208-106dup) n.324dup | |
19 | g.35033607A= | CA2333467016 | SCN1B | c.316A= (p.Ile106=) c.217A= (p.Ile73=) c.208-105A= (n.208-105A=) n.325A= | |
19 | g.35033607A>C | CA405328763 | SCN1B | c.316A>C (p.Ile106Leu) c.217A>C (p.Ile73Leu) c.208-105A>C (n.208-105A>C) n.325A>C | |
19 | g.35033607A>G | CA307703640 | SCN1B | c.316A>G (p.Ile106Val) c.217A>G (p.Ile73Val) c.208-105A>G (n.208-105A>G) n.325A>G | ClinVar dbSNP gnomAD v4 |
19 | g.35033607A>T | CA405328764 | SCN1B | c.316A>T (p.Ile106Phe) c.217A>T (p.Ile73Phe) c.208-105A>T (n.208-105A>T) n.325A>T | ClinVar dbSNP |
19 | g.35033608T>A | CA405328765 | SCN1B | c.317T>A (p.Ile106Asn) c.218T>A (p.Ile73Asn) c.208-104T>A (n.208-104T>A) n.326T>A | |
19 | g.35033608T>C | CA405328766 | SCN1B | c.317T>C (p.Ile106Thr) c.218T>C (p.Ile73Thr) c.208-104T>C (n.208-104T>C) n.326T>C | |
19 | g.35033608T>G | CA405328767 | SCN1B | c.317T>G (p.Ile106Ser) c.218T>G (p.Ile73Ser) c.208-104T>G (n.208-104T>G) n.326T>G | |
19 | g.35033609C>A | CA507297993 | SCN1B | c.318C>A (p.Ile106=) c.219C>A (p.Ile73=) c.208-103C>A (n.208-103C>A) n.327C>A | |
19 | g.35033609C>G | CA405328768 | SCN1B | c.318C>G (p.Ile106Met) c.219C>G (p.Ile73Met) c.208-103C>G (n.208-103C>G) n.327C>G | |
19 | g.35033609C>T | CA507297992 | SCN1B | c.318C>T (p.Ile106=) c.219C>T (p.Ile73=) c.208-103C>T (n.208-103C>T) n.327C>T | |
19 | g.35033610T>A | CA405328769 | SCN1B | c.319T>A (p.Phe107Ile) c.220T>A (p.Phe74Ile) c.208-102T>A (n.208-102T>A) n.328T>A | |
19 | g.35033610T>C | CA405328770 | SCN1B | c.319T>C (p.Phe107Leu) c.220T>C (p.Phe74Leu) c.208-102T>C (n.208-102T>C) n.328T>C | |
19 | g.35033610T>G | CA405328771 | SCN1B | c.319T>G (p.Phe107Val) c.220T>G (p.Phe74Val) c.208-102T>G (n.208-102T>G) n.328T>G | |
19 | g.35033611T>A | CA405328772 | SCN1B | c.320T>A (p.Phe107Tyr) c.221T>A (p.Phe74Tyr) c.208-101T>A (n.208-101T>A) n.329T>A | |
19 | g.35033611T>C | CA405328773 | SCN1B | c.320T>C (p.Phe107Ser) c.221T>C (p.Phe74Ser) c.208-101T>C (n.208-101T>C) n.329T>C | |
19 | g.35033611T>G | CA405328774 | SCN1B | c.320T>G (p.Phe107Cys) c.221T>G (p.Phe74Cys) c.208-101T>G (n.208-101T>G) n.329T>G | |
19 | g.35033612C>A | CA405328776 | SCN1B | c.321C>A (p.Phe107Leu) c.222C>A (p.Phe74Leu) c.208-100C>A (n.208-100C>A) n.330C>A | |
19 | g.35033612C>G | CA405328775 | SCN1B | c.321C>G (p.Phe107Leu) c.222C>G (p.Phe74Leu) c.208-100C>G (n.208-100C>G) n.330C>G | |
19 | g.35033612C>T | CA507297994 | SCN1B | c.321C>T (p.Phe107=) c.222C>T (p.Phe74=) c.208-100C>T (n.208-100C>T) n.330C>T | |
19 | g.35033613A>C | CA405328777 | SCN1B | c.322A>C (p.Ile108Leu) c.223A>C (p.Ile75Leu) c.208-99A>C (n.208-99A>C) n.331A>C | |
19 | g.35033613A>G | CA405328778 | SCN1B | c.322A>G (p.Ile108Val) c.223A>G (p.Ile75Val) c.208-99A>G (n.208-99A>G) n.331A>G | |
19 | g.35033613A>T | CA405328779 | SCN1B | c.322A>T (p.Ile108Phe) c.223A>T (p.Ile75Phe) c.208-99A>T (n.208-99A>T) n.331A>T | |
19 | g.35033614T>A | CA405328780 | SCN1B | c.323T>A (p.Ile108Asn) c.224T>A (p.Ile75Asn) c.208-98T>A (n.208-98T>A) n.332T>A | |
19 | g.35033614T>C | CA405328781 | SCN1B | c.323T>C (p.Ile108Thr) c.224T>C (p.Ile75Thr) c.208-98T>C (n.208-98T>C) n.332T>C | |
19 | g.35033614T>G | CA405328782 | SCN1B | c.323T>G (p.Ile108Ser) c.224T>G (p.Ile75Ser) c.208-98T>G (n.208-98T>G) n.332T>G | |
19 | g.35033615C>A | CA507297995 | SCN1B | c.324C>A (p.Ile108=) c.225C>A (p.Ile75=) c.208-97C>A (n.208-97C>A) n.333C>A | |
19 | g.35033615C>G | CA405328783 | SCN1B | c.324C>G (p.Ile108Met) c.225C>G (p.Ile75Met) c.208-97C>G (n.208-97C>G) n.333C>G | |
19 | g.35033615C>T | CA507297996 | SCN1B | c.324C>T (p.Ile108=) c.225C>T (p.Ile75=) c.208-97C>T (n.208-97C>T) n.333C>T | gnomAD v4 |
19 | g.35033616A>C | CA405328786 | SCN1B | c.325A>C (p.Thr109Pro) c.226A>C (p.Thr76Pro) c.208-96A>C (n.208-96A>C) n.334A>C | |
19 | g.35033616A>G | CA405328784 | SCN1B | c.325A>G (p.Thr109Ala) c.226A>G (p.Thr76Ala) c.208-96A>G (n.208-96A>G) n.334A>G | |
19 | g.35033616A>T | CA405328785 | SCN1B | c.325A>T (p.Thr109Ser) c.226A>T (p.Thr76Ser) c.208-96A>T (n.208-96A>T) n.334A>T | |
19 | g.35033617C>A | CA405328787 | SCN1B | c.326C>A (p.Thr109Asn) c.227C>A (p.Thr76Asn) c.208-95C>A (n.208-95C>A) n.335C>A | |
19 | g.35033617C>G | CA405328788 | SCN1B | c.326C>G (p.Thr109Ser) c.227C>G (p.Thr76Ser) c.208-95C>G (n.208-95C>G) n.335C>G | |
19 | g.35033617C>T | CA405328789 | SCN1B | c.326C>T (p.Thr109Ile) c.227C>T (p.Thr76Ile) c.208-95C>T (n.208-95C>T) n.335C>T | |
19 | g.35033618C>A | CA507297997 | SCN1B | c.327C>A (p.Thr109=) c.228C>A (p.Thr76=) c.208-94C>A (n.208-94C>A) n.336C>A | |
19 | g.35033618C>G | CA507297998 | SCN1B | c.327C>G (p.Thr109=) c.228C>G (p.Thr76=) c.208-94C>G (n.208-94C>G) n.336C>G | gnomAD v4 |
19 | g.35033618C>T | CA507297999 | SCN1B | c.327C>T (p.Thr109=) c.228C>T (p.Thr76=) c.208-94C>T (n.208-94C>T) n.336C>T | gnomAD v4 COSMIC COSMIC |
19 | g.35033619A>C | CA405328790 | SCN1B | c.328A>C (p.Asn110His) c.229A>C (p.Asn77His) c.208-93A>C (n.208-93A>C) n.337A>C | |
19 | g.35033619A>G | CA405328791 | SCN1B | c.328A>G (p.Asn110Asp) c.229A>G (p.Asn77Asp) c.208-93A>G (n.208-93A>G) n.337A>G | |
19 | g.35033619A>T | CA405328792 | SCN1B | c.328A>T (p.Asn110Tyr) c.229A>T (p.Asn77Tyr) c.208-93A>T (n.208-93A>T) n.337A>T | |
19 | g.35033620A= | CA2333467017 | SCN1B | c.329A= (p.Asn110=) c.230A= (p.Asn77=) c.208-92A= (n.208-92A=) n.338A= | |
19 | g.35033620A>C | CA405328793 | SCN1B | c.329A>C (p.Asn110Thr) c.230A>C (p.Asn77Thr) c.208-92A>C (n.208-92A>C) n.338A>C | gnomAD v4 |
19 | g.35033620A>G | CA9372004 | SCN1B | c.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 |
19 | g.35033620A>T | CA405328794 | SCN1B | c.329A>T (p.Asn110Ile) c.230A>T (p.Asn77Ile) c.208-92A>T (n.208-92A>T) n.338A>T | |
19 | g.35033621T>A | CA405328795 | SCN1B | c.330T>A (p.Asn110Lys) c.231T>A (p.Asn77Lys) c.208-91T>A (n.208-91T>A) n.339T>A | |
19 | g.35033621T>C | CA9372005 | SCN1B | c.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 |
19 | g.35033621T>G | CA405328796 | SCN1B | c.330T>G (p.Asn110Lys) c.231T>G (p.Asn77Lys) c.208-91T>G (n.208-91T>G) n.339T>G | |
19 | g.35033621T= | CA2333467018 | SCN1B | c.330T= (p.Asn110=) c.231T= (p.Asn77=) c.208-91T= (n.208-91T=) n.339T= | |
19 | g.35033622G>A | CA405328797 | SCN1B | c.331G>A (p.Val111Ile) c.232G>A (p.Val78Ile) c.208-90G>A (n.208-90G>A) n.340G>A | ClinVar dbSNP |
19 | g.35033622G>C | CA405328798 | SCN1B | c.331G>C (p.Val111Leu) c.232G>C (p.Val78Leu) c.208-90G>C (n.208-90G>C) n.340G>C | |
19 | g.35033622G= | CA2333467019 | SCN1B | c.331G= (p.Val111=) c.232G= (p.Val78=) c.208-90G= (n.208-90G=) n.340G= | |
19 | g.35033622G>T | CA405328799 | SCN1B | c.331G>T (p.Val111Phe) c.232G>T (p.Val78Phe) c.208-90G>T (n.208-90G>T) n.340G>T | |
19 | g.35033623T>A | CA405328800 | SCN1B | c.332T>A (p.Val111Asp) c.233T>A (p.Val78Asp) c.208-89T>A (n.208-89T>A) n.341T>A | |
19 | g.35033623T>C | CA405328801 | SCN1B | c.332T>C (p.Val111Ala) c.233T>C (p.Val78Ala) c.208-89T>C (n.208-89T>C) n.341T>C | |
19 | g.35033623T>G | CA405328802 | SCN1B | c.332T>G (p.Val111Gly) c.233T>G (p.Val78Gly) c.208-89T>G (n.208-89T>G) n.341T>G | |
19 | g.35033624C>A | CA507298002 | SCN1B | c.333C>A (p.Val111=) c.234C>A (p.Val78=) c.208-88C>A (n.208-88C>A) n.342C>A | |
19 | g.35033624C>G | CA507298000 | SCN1B | c.333C>G (p.Val111=) c.234C>G (p.Val78=) c.208-88C>G (n.208-88C>G) n.342C>G | |
19 | g.35033624C>T | CA507298001 | SCN1B | c.333C>T (p.Val111=) c.234C>T (p.Val78=) c.208-88C>T (n.208-88C>T) n.342C>T | |
19 | g.35033625A= | CA2333467020 | SCN1B | c.334A= (p.Thr112=) c.235A= (p.Thr79=) c.208-87A= (n.208-87A=) n.343A= | |
19 | g.35033625A>C | CA405328803 | SCN1B | c.334A>C (p.Thr112Pro) c.235A>C (p.Thr79Pro) c.208-87A>C (n.208-87A>C) n.343A>C | dbSNP |
19 | g.35033625A>G | CA405328804 | SCN1B | c.334A>G (p.Thr112Ala) c.235A>G (p.Thr79Ala) c.208-87A>G (n.208-87A>G) n.343A>G | |
19 | g.35033625A>T | CA405328805 | SCN1B | c.334A>T (p.Thr112Ser) c.235A>T (p.Thr79Ser) c.208-87A>T (n.208-87A>T) n.343A>T | dbSNP |
19 | g.35033626C>A | CA405328806 | SCN1B | c.335C>A (p.Thr112Asn) c.236C>A (p.Thr79Asn) c.208-86C>A (n.208-86C>A) n.344C>A | |
19 | g.35033626C= | CA2333467021 | SCN1B | c.335C= (p.Thr112=) c.236C= (p.Thr79=) c.208-86C= (n.208-86C=) n.344C= | |
19 | g.35033626C>G | CA405328808 | SCN1B | c.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 |
19 | g.35033626C>T | CA405328807 | SCN1B | c.335C>T (p.Thr112Ile) c.236C>T (p.Thr79Ile) c.208-86C>T (n.208-86C>T) n.344C>T | ClinVar |
19 | g.35033627C>A | CA507298003 | SCN1B | c.336C>A (p.Thr112=) c.237C>A (p.Thr79=) c.208-85C>A (n.208-85C>A) n.345C>A | |
19 | g.35033627C>G | CA507298004 | SCN1B | c.336C>G (p.Thr112=) c.237C>G (p.Thr79=) c.208-85C>G (n.208-85C>G) n.345C>G | |
19 | g.35033627C>T | CA507298005 | SCN1B | c.336C>T (p.Thr112=) c.237C>T (p.Thr79=) c.208-85C>T (n.208-85C>T) n.345C>T | |
19 | g.35033628T>A | CA405328809 | SCN1B | c.337T>A (p.Tyr113Asn) c.238T>A (p.Tyr80Asn) c.208-84T>A (n.208-84T>A) n.346T>A | |
19 | g.35033628T>C | CA405328810 | SCN1B | c.337T>C (p.Tyr113His) c.238T>C (p.Tyr80His) c.208-84T>C (n.208-84T>C) n.346T>C | |
19 | g.35033628T>G | CA405328811 | SCN1B | c.337T>G (p.Tyr113Asp) c.238T>G (p.Tyr80Asp) c.208-84T>G (n.208-84T>G) n.346T>G | |
19 | g.35033629A= | CA2333467022 | SCN1B | c.338A= (p.Tyr113=) c.239A= (p.Tyr80=) c.208-83A= (n.208-83A=) n.347A= | |
19 | g.35033629A>C | CA405328812 | SCN1B | c.338A>C (p.Tyr113Ser) c.239A>C (p.Tyr80Ser) c.208-83A>C (n.208-83A>C) n.347A>C | |
19 | g.35033629A>G | CA405328813 | SCN1B | c.338A>G (p.Tyr113Cys) c.239A>G (p.Tyr80Cys) c.208-83A>G (n.208-83A>G) n.347A>G | ClinVar dbSNP |
19 | g.35033629A>T | CA405328814 | SCN1B | c.338A>T (p.Tyr113Phe) c.239A>T (p.Tyr80Phe) c.208-83A>T (n.208-83A>T) n.347A>T | |
19 | g.35033630C>A | CA405328815 | SCN1B | c.339C>A (p.Tyr113Ter) c.240C>A (p.Tyr80Ter) c.208-82C>A (n.208-82C>A) n.348C>A | |
19 | g.35033630C>G | CA405328816 | SCN1B | c.339C>G (p.Tyr113Ter) c.240C>G (p.Tyr80Ter) c.208-82C>G (n.208-82C>G) n.348C>G | |
19 | g.35033630C>T | CA507298006 | SCN1B | c.339C>T (p.Tyr113=) c.240C>T (p.Tyr80=) c.208-82C>T (n.208-82C>T) n.348C>T | ClinVar |
19 | g.35033631A>C | CA405328817 | SCN1B | c.340A>C (p.Asn114His) c.241A>C (p.Asn81His) c.208-81A>C (n.208-81A>C) n.349A>C | |
19 | g.35033631A>G | CA405328818 | SCN1B | c.340A>G (p.Asn114Asp) c.241A>G (p.Asn81Asp) c.208-81A>G (n.208-81A>G) n.349A>G | |
19 | g.35033631A>T | CA405328819 | SCN1B | c.340A>T (p.Asn114Tyr) c.241A>T (p.Asn81Tyr) c.208-81A>T (n.208-81A>T) n.349A>T | |
19 | g.35033631_35033637del | CA2584414366 | SCN1B | c.340_346del (p.Asn114ArgfsTer?) c.241_247del (p.Asn81ArgfsTer?) c.208-81_208-75del (n.208-81_208-75del) n.349_355del | gnomAD v4 |
19 | g.35033632A= | CA2333467023 | SCN1B | c.341A= (p.Asn114=) c.242A= (p.Asn81=) c.208-80A= (n.208-80A=) n.350A= | |
19 | g.35033632A>C | CA405328820 | SCN1B | c.341A>C (p.Asn114Thr) c.242A>C (p.Asn81Thr) c.208-80A>C (n.208-80A>C) n.350A>C | |
19 | g.35033632A>G | CA307703644 | SCN1B | c.341A>G (p.Asn114Ser) c.242A>G (p.Asn81Ser) c.208-80A>G (n.208-80A>G) n.350A>G | dbSNP gnomAD v4 |
19 | g.35033632A>T | CA405328821 | SCN1B | c.341A>T (p.Asn114Ile) c.242A>T (p.Asn81Ile) c.208-80A>T (n.208-80A>T) n.350A>T | |
19 | g.35033633C>A | CA405328822 | SCN1B | c.342C>A (p.Asn114Lys) c.243C>A (p.Asn81Lys) c.208-79C>A (n.208-79C>A) n.351C>A | |
19 | g.35033633C>G | CA405328823 | SCN1B | c.342C>G (p.Asn114Lys) c.243C>G (p.Asn81Lys) c.208-79C>G (n.208-79C>G) n.351C>G | |
19 | g.35033633C>T | CA507298007 | SCN1B | c.342C>T (p.Asn114=) c.243C>T (p.Asn81=) c.208-79C>T (n.208-79C>T) n.351C>T | |
19 | g.35033634C>A | CA405328824 | SCN1B | c.343C>A (p.His115Asn) c.244C>A (p.His82Asn) c.208-78C>A (n.208-78C>A) n.352C>A | |
19 | g.35033634C= | CA2333467024 | SCN1B | c.343C= (p.His115=) c.244C= (p.His82=) c.208-78C= (n.208-78C=) n.352C= | |
19 | g.35033634C>G | CA405328825 | SCN1B | c.343C>G (p.His115Asp) c.244C>G (p.His82Asp) c.208-78C>G (n.208-78C>G) n.352C>G | |
19 | g.35033634C>T | CA405328826 | SCN1B | c.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 |
19 | g.35033635A>C | CA405328827 | SCN1B | c.344A>C (p.His115Pro) c.245A>C (p.His82Pro) c.208-77A>C (n.208-77A>C) n.353A>C | |
19 | g.35033635A>G | CA405328828 | SCN1B | c.344A>G (p.His115Arg) c.245A>G (p.His82Arg) c.208-77A>G (n.208-77A>G) n.353A>G | |
19 | g.35033635A>T | CA405328829 | SCN1B | c.344A>T (p.His115Leu) c.245A>T (p.His82Leu) c.208-77A>T (n.208-77A>T) n.353A>T | |
19 | g.35033636C>A | CA405328830 | SCN1B | c.345C>A (p.His115Gln) c.246C>A (p.His82Gln) c.208-76C>A (n.208-76C>A) n.354C>A | |
19 | g.35033636C>G | CA405328831 | SCN1B | c.345C>G (p.His115Gln) c.246C>G (p.His82Gln) c.208-76C>G (n.208-76C>G) n.354C>G | |
19 | g.35033636C>T | CA507298008 | SCN1B | c.345C>T (p.His115=) c.246C>T (p.His82=) c.208-76C>T (n.208-76C>T) n.354C>T | |
19 | g.35033637T>A | CA405328832 | SCN1B | c.346T>A (p.Ser116Thr) c.247T>A (p.Ser83Thr) c.208-75T>A (n.208-75T>A) n.355T>A | |
19 | g.35033637T>C | CA405328833 | SCN1B | c.346T>C (p.Ser116Pro) c.247T>C (p.Ser83Pro) c.208-75T>C (n.208-75T>C) n.355T>C | |
19 | g.35033637T>G | CA405328834 | SCN1B | c.346T>G (p.Ser116Ala) c.247T>G (p.Ser83Ala) c.208-75T>G (n.208-75T>G) n.355T>G | ClinVar |
19 | g.35033637_35033638delinsTC | CA2333467025 | SCN1B | c.346_347delinsTC (p.Ser116=) c.247_248delinsTC (p.Ser83=) c.208-75_208-74delinsTC (n.208-75_208-74delinsTC) n.355_356delinsTC | |
19 | g.35033638del | CA275171 | SCN1B | c.347del (p.Ser116TrpfsTer?) c.248del (p.Ser83TrpfsTer?) c.208-74del (n.208-74del) n.356del | ClinVar dbSNP |
19 | g.35033638C>A | CA405328836 | SCN1B | c.347C>A (p.Ser116Ter) c.248C>A (p.Ser83Ter) c.208-74C>A (n.208-74C>A) n.356C>A | dbSNP gnomAD v4 |
19 | g.35033638C= | CA2333467026 | SCN1B | c.347C= (p.Ser116=) c.248C= (p.Ser83=) c.208-74C= (n.208-74C=) n.356C= | |
19 | g.35033638C>G | CA405328835 | SCN1B | c.347C>G (p.Ser116Trp) c.248C>G (p.Ser83Trp) c.208-74C>G (n.208-74C>G) n.356C>G | |
19 | g.35033638C>T | CA405328837 | SCN1B | c.347C>T (p.Ser116Leu) c.248C>T (p.Ser83Leu) c.208-74C>T (n.208-74C>T) n.356C>T | ClinVar dbSNP gnomAD v4 |
19 | g.35033639G>A | CA293212 | SCN1B | c.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 |
19 | g.35033639G>C | CA507298010 | SCN1B | c.348G>C (p.Ser116=) c.249G>C (p.Ser83=) c.208-73G>C (n.208-73G>C) n.357G>C | |
19 | g.35033639G= | CA2333467027 | SCN1B | c.348G= (p.Ser116=) c.249G= (p.Ser83=) c.208-73G= (n.208-73G=) n.357G= | |
19 | g.35033639G>T | CA507298009 | SCN1B | c.348G>T (p.Ser116=) c.249G>T (p.Ser83=) c.208-73G>T (n.208-73G>T) n.357G>T | |
19 | g.35033640G>A | CA405328838 | SCN1B | c.349G>A (p.Gly117Ser) c.250G>A (p.Gly84Ser) c.208-72G>A (n.208-72G>A) n.358G>A | ClinVar gnomAD v4 |
19 | g.35033640G>C | CA405328840 | SCN1B | c.349G>C (p.Gly117Arg) c.250G>C (p.Gly84Arg) c.208-72G>C (n.208-72G>C) n.358G>C | |
19 | g.35033640G>T | CA405328839 | SCN1B | c.349G>T (p.Gly117Cys) c.250G>T (p.Gly84Cys) c.208-72G>T (n.208-72G>T) n.358G>T | |
19 | g.35033641G>A | CA405328841 | SCN1B | c.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 |
19 | g.35033641G>C | CA405328842 | SCN1B | c.350G>C (p.Gly117Ala) c.251G>C (p.Gly84Ala) c.208-71G>C (n.208-71G>C) n.359G>C | |
19 | g.35033641G= | CA2333467028 | SCN1B | c.350G= (p.Gly117=) c.251G= (p.Gly84=) c.208-71G= (n.208-71G=) n.359G= | |
19 | g.35033641G>T | CA405328843 | SCN1B | c.350G>T (p.Gly117Val) c.251G>T (p.Gly84Val) c.208-71G>T (n.208-71G>T) n.359G>T | |
19 | g.35033642C>A | CA507298012 | SCN1B | c.351C>A (p.Gly117=) c.252C>A (p.Gly84=) c.208-70C>A (n.208-70C>A) n.360C>A | |
19 | g.35033642C= | CA2333467029 | SCN1B | c.351C= (p.Gly117=) c.252C= (p.Gly84=) c.208-70C= (n.208-70C=) n.360C= | |
19 | g.35033642C>G | CA507298011 | SCN1B | c.351C>G (p.Gly117=) c.252C>G (p.Gly84=) c.208-70C>G (n.208-70C>G) n.360C>G | |
19 | g.35033642C>T | CA293214 | SCN1B | c.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 |
19 | g.35033643G>A | CA405328844 | SCN1B | c.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 |
19 | g.35033643G>C | CA405328845 | SCN1B | c.352G>C (p.Asp118His) c.253G>C (p.Asp85His) c.208-69G>C (n.208-69G>C) n.361G>C | |
19 | g.35033643G= | CA2333467030 | SCN1B | c.352G= (p.Asp118=) c.253G= (p.Asp85=) c.208-69G= (n.208-69G=) n.361G= | |
19 | g.35033643G>T | CA302157 | SCN1B | c.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 |
19 | g.35033644A>C | CA405328846 | SCN1B | c.353A>C (p.Asp118Ala) c.254A>C (p.Asp85Ala) c.208-68A>C (n.208-68A>C) n.362A>C | |
19 | g.35033644A>G | CA405328847 | SCN1B | c.353A>G (p.Asp118Gly) c.254A>G (p.Asp85Gly) c.208-68A>G (n.208-68A>G) n.362A>G | |
19 | g.35033644A>T | CA405328848 | SCN1B | c.353A>T (p.Asp118Val) c.254A>T (p.Asp85Val) c.208-68A>T (n.208-68A>T) n.362A>T | |
19 | g.35033645C>A | CA405328849 | SCN1B | c.354C>A (p.Asp118Glu) c.255C>A (p.Asp85Glu) c.208-67C>A (n.208-67C>A) n.363C>A | |
19 | g.35033645C>G | CA405328850 | SCN1B | c.354C>G (p.Asp118Glu) c.255C>G (p.Asp85Glu) c.208-67C>G (n.208-67C>G) n.363C>G | |
19 | g.35033645C>T | CA507298013 | SCN1B | c.354C>T (p.Asp118=) c.255C>T (p.Asp85=) c.208-67C>T (n.208-67C>T) n.363C>T | |
19 | g.35033646T>A | CA405328853 | SCN1B | c.355T>A (p.Tyr119Asn) c.256T>A (p.Tyr86Asn) c.208-66T>A (n.208-66T>A) n.364T>A | |
19 | g.35033646T>C | CA405328851 | SCN1B | c.355T>C (p.Tyr119His) c.256T>C (p.Tyr86His) c.208-66T>C (n.208-66T>C) n.364T>C | |
19 | g.35033646T>G | CA405328852 | SCN1B | c.355T>G (p.Tyr119Asp) c.256T>G (p.Tyr86Asp) c.208-66T>G (n.208-66T>G) n.364T>G | ClinVar dbSNP |
19 | g.35033646T= | CA2333467031 | SCN1B | c.355T= (p.Tyr119=) c.256T= (p.Tyr86=) c.208-66T= (n.208-66T=) n.364T= | |
19 | g.35033647A>C | CA405328854 | SCN1B | c.356A>C (p.Tyr119Ser) c.257A>C (p.Tyr86Ser) c.208-65A>C (n.208-65A>C) n.365A>C | |
19 | g.35033647A>G | CA405328855 | SCN1B | c.356A>G (p.Tyr119Cys) c.257A>G (p.Tyr86Cys) c.208-65A>G (n.208-65A>G) n.365A>G | |
19 | g.35033647A>T | CA405328856 | SCN1B | c.356A>T (p.Tyr119Phe) c.257A>T (p.Tyr86Phe) c.208-65A>T (n.208-65A>T) n.365A>T | |
19 | g.35033648C>A | CA405328857 | SCN1B | c.357C>A (p.Tyr119Ter) c.258C>A (p.Tyr86Ter) c.208-64C>A (n.208-64C>A) n.366C>A | |
19 | g.35033648C= | CA2333467032 | SCN1B | c.357C= (p.Tyr119=) c.258C= (p.Tyr86=) c.208-64C= (n.208-64C=) n.366C= | |
19 | g.35033648C>G | CA405328858 | SCN1B | c.357C>G (p.Tyr119Ter) c.258C>G (p.Tyr86Ter) c.208-64C>G (n.208-64C>G) n.366C>G | |
19 | g.35033648C>T | CA507298014 | SCN1B | c.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 |
19 | g.35033649G>A | CA9372006 | SCN1B | c.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 |
19 | g.35033649G>C | CA405328859 | SCN1B | c.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 |
19 | g.35033649G= | CA2333467033 | SCN1B | c.358G= (p.Glu120=) c.259G= (p.Glu87=) c.208-63G= (n.208-63G=) n.367G= | |
19 | g.35033649G>T | CA405328860 | SCN1B | c.358G>T (p.Glu120Ter) c.259G>T (p.Glu87Ter) c.208-63G>T (n.208-63G>T) n.367G>T | dbSNP |
19 | g.35033650A>C | CA405328861 | SCN1B | c.359A>C (p.Glu120Ala) c.260A>C (p.Glu87Ala) c.208-62A>C (n.208-62A>C) n.368A>C | |
19 | g.35033650A>G | CA405328862 | SCN1B | c.359A>G (p.Glu120Gly) c.260A>G (p.Glu87Gly) c.208-62A>G (n.208-62A>G) n.368A>G | |
19 | g.35033650A>T | CA405328863 | SCN1B | c.359A>T (p.Glu120Val) c.260A>T (p.Glu87Val) c.208-62A>T (n.208-62A>T) n.368A>T | |
19 | g.35033651G>A | CA507298116 | SCN1B | c.360G>A (p.Glu120=) c.261G>A (p.Glu87=) c.208-61G>A (n.208-61G>A) n.369G>A | ClinVar dbSNP gnomAD v4 |
19 | g.35033651G>C | CA405328864 | SCN1B | c.360G>C (p.Glu120Asp) c.261G>C (p.Glu87Asp) c.208-61G>C (n.208-61G>C) n.369G>C | |
19 | g.35033651G>T | CA405328865 | SCN1B | c.360G>T (p.Glu120Asp) c.261G>T (p.Glu87Asp) c.208-61G>T (n.208-61G>T) n.369G>T | |
19 | g.35033652T>A | CA405328866 | SCN1B | c.361T>A (p.Cys121Ser) c.262T>A (p.Cys88Ser) c.208-60T>A (n.208-60T>A) n.370T>A | |
19 | g.35033652T>C | CA405328867 | SCN1B | c.361T>C (p.Cys121Arg) c.262T>C (p.Cys88Arg) c.208-60T>C (n.208-60T>C) n.370T>C | |
19 | g.35033652T>G | CA405328868 | SCN1B | c.361T>G (p.Cys121Gly) c.262T>G (p.Cys88Gly) c.208-60T>G (n.208-60T>G) n.370T>G | |
19 | g.35033653G>A | CA405328869 | SCN1B | c.362G>A (p.Cys121Tyr) c.263G>A (p.Cys88Tyr) c.208-59G>A (n.208-59G>A) n.371G>A | |
19 | g.35033653G>C | CA405328870 | SCN1B | c.362G>C (p.Cys121Ser) c.263G>C (p.Cys88Ser) c.208-59G>C (n.208-59G>C) n.371G>C | |
19 | g.35033653G>T | CA405328871 | SCN1B | c.362G>T (p.Cys121Phe) c.263G>T (p.Cys88Phe) c.208-59G>T (n.208-59G>T) n.371G>T | |
19 | g.35033654C>A | CA405328872 | SCN1B | c.363C>A (p.Cys121Ter) c.264C>A (p.Cys88Ter) c.208-58C>A (n.208-58C>A) n.372C>A | dbSNP |
19 | g.35033654C= | CA2333467034 | SCN1B | c.363C= (p.Cys121=) c.264C= (p.Cys88=) c.208-58C= (n.208-58C=) n.372C= | |
19 | g.35033654C>G | CA203839 | SCN1B | c.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 |
19 | g.35033654C>T | CA307703655 | SCN1B | c.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 |
19 | g.35033655C>A | CA405328873 | SCN1B | c.364C>A (p.His122Asn) c.265C>A (p.His89Asn) c.208-57C>A (n.208-57C>A) n.373C>A | |
19 | g.35033655C>G | CA405328874 | SCN1B | c.364C>G (p.His122Asp) c.265C>G (p.His89Asp) c.208-57C>G (n.208-57C>G) n.373C>G | |
19 | g.35033655C>T | CA405328875 | SCN1B | c.364C>T (p.His122Tyr) c.265C>T (p.His89Tyr) c.208-57C>T (n.208-57C>T) n.373C>T | |
19 | g.35033656A>C | CA405328878 | SCN1B | c.365A>C (p.His122Pro) c.266A>C (p.His89Pro) c.208-56A>C (n.208-56A>C) n.374A>C | |
19 | g.35033656A>G | CA405328876 | SCN1B | c.365A>G (p.His122Arg) c.266A>G (p.His89Arg) c.208-56A>G (n.208-56A>G) n.374A>G | |
19 | g.35033656A>T | CA405328877 | SCN1B | c.365A>T (p.His122Leu) c.266A>T (p.His89Leu) c.208-56A>T (n.208-56A>T) n.374A>T | |
19 | g.35033657C>A | CA9372008 | SCN1B | c.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 |
19 | g.35033657C= | CA2333467035 | SCN1B | c.366C= (p.His122=) c.267C= (p.His89=) c.208-55C= (n.208-55C=) n.375C= | |
19 | g.35033657C>G | CA405328879 | SCN1B | c.366C>G (p.His122Gln) c.267C>G (p.His89Gln) c.208-55C>G (n.208-55C>G) n.375C>G | |
19 | g.35033657C>T | CA9372007 | SCN1B | c.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 |
19 | g.35033658G>A | CA302159 | SCN1B | c.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 |
19 | g.35033658G>C | CA405328880 | SCN1B | c.367G>C (p.Val123Leu) c.268G>C (p.Val90Leu) c.208-54G>C (n.208-54G>C) n.376G>C | |
19 | g.35033658G= | CA2333467036 | SCN1B | c.367G= (p.Val123=) c.268G= (p.Val90=) c.208-54G= (n.208-54G=) n.376G= | |
19 | g.35033658G>T | CA405328881 | SCN1B | c.367G>T (p.Val123Phe) c.268G>T (p.Val90Phe) c.208-54G>T (n.208-54G>T) n.376G>T | ClinVar dbSNP |
19 | g.35033659T>A | CA405328882 | SCN1B | c.368T>A (p.Val123Asp) c.269T>A (p.Val90Asp) c.208-53T>A (n.208-53T>A) n.377T>A | |
19 | g.35033659T>C | CA405328883 | SCN1B | c.368T>C (p.Val123Ala) c.269T>C (p.Val90Ala) c.208-53T>C (n.208-53T>C) n.377T>C | COSMIC COSMIC |
19 | g.35033659T>G | CA405328884 | SCN1B | c.368T>G (p.Val123Gly) c.269T>G (p.Val90Gly) c.208-53T>G (n.208-53T>G) n.377T>G | |
19 | g.35033660C>A | CA507298128 | SCN1B | c.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 |
19 | g.35033660C= | CA2333467037 | SCN1B | c.369C= (p.Val123=) c.270C= (p.Val90=) c.208-52C= (n.208-52C=) n.378C= | |
19 | g.35033660C>G | CA507298129 | SCN1B | c.369C>G (p.Val123=) c.270C>G (p.Val90=) c.208-52C>G (n.208-52C>G) n.378C>G | |
19 | g.35033660C>T | CA507298130 | SCN1B | c.369C>T (p.Val123=) c.270C>T (p.Val90=) c.208-52C>T (n.208-52C>T) n.378C>T | gnomAD v4 |
19 | g.35033661T>A | CA405328885 | SCN1B | c.370T>A (p.Tyr124Asn) c.271T>A (p.Tyr91Asn) c.208-51T>A (n.208-51T>A) n.379T>A | |
19 | g.35033661T>C | CA405328886 | SCN1B | c.370T>C (p.Tyr124His) c.271T>C (p.Tyr91His) c.208-51T>C (n.208-51T>C) n.379T>C | |
19 | g.35033661T>G | CA405328887 | SCN1B | c.370T>G (p.Tyr124Asp) c.271T>G (p.Tyr91Asp) c.208-51T>G (n.208-51T>G) n.379T>G | |
19 | g.35033662A>C | CA405328889 | SCN1B | c.371A>C (p.Tyr124Ser) c.272A>C (p.Tyr91Ser) c.208-50A>C (n.208-50A>C) n.380A>C | |
19 | g.35033662A>G | CA405328890 | SCN1B | c.371A>G (p.Tyr124Cys) c.272A>G (p.Tyr91Cys) c.208-50A>G (n.208-50A>G) n.380A>G | |
19 | g.35033662A>T | CA405328888 | SCN1B | c.371A>T (p.Tyr124Phe) c.272A>T (p.Tyr91Phe) c.208-50A>T (n.208-50A>T) n.380A>T | |
19 | g.35033663C>A | CA405328892 | SCN1B | c.372C>A (p.Tyr124Ter) c.273C>A (p.Tyr91Ter) c.208-49C>A (n.208-49C>A) n.381C>A | |
19 | g.35033663C>G | CA405328891 | SCN1B | c.372C>G (p.Tyr124Ter) c.273C>G (p.Tyr91Ter) c.208-49C>G (n.208-49C>G) n.381C>G | |
19 | g.35033663C>T | CA507298134 | SCN1B | c.372C>T (p.Tyr124=) c.273C>T (p.Tyr91=) c.208-49C>T (n.208-49C>T) n.381C>T | gnomAD v4 |
19 | g.35033664C>A | CA405328893 | SCN1B | c.373C>A (p.Arg125Ser) c.274C>A (p.Arg92Ser) c.208-48C>A (n.208-48C>A) n.382C>A | |
19 | g.35033664C= | CA2333467038 | SCN1B | c.373C= (p.Arg125=) c.274C= (p.Arg92=) c.208-48C= (n.208-48C=) n.382C= | |
19 | g.35033664C>G | CA405328894 | SCN1B | c.373C>G (p.Arg125Gly) c.274C>G (p.Arg92Gly) c.208-48C>G (n.208-48C>G) n.382C>G | gnomAD v4 |
19 | g.35033664C>T | CA405328895 | SCN1B | c.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 |
19 | g.35033665G>A | CA302194 | SCN1B | c.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 |
19 | g.35033665G>C | CA405328896 | SCN1B | c.374G>C (p.Arg125Pro) c.275G>C (p.Arg92Pro) c.208-47G>C (n.208-47G>C) n.383G>C | |
19 | g.35033665G= | CA2333467039 | SCN1B | c.374G= (p.Arg125=) c.275G= (p.Arg92=) c.208-47G= (n.208-47G=) n.383G= | |
19 | g.35033665G>T | CA405328897 | SCN1B | c.374G>T (p.Arg125Leu) c.275G>T (p.Arg92Leu) c.208-47G>T (n.208-47G>T) n.383G>T | ClinVar dbSNP |