Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35033562G>ACA405328664SCN1Bc.271G>A (p.Val91Met)
c.172G>A (p.Val58Met)
c.208-150G>A (n.208-150G>A)
n.280G>A
dbSNP gnomAD v2 gnomAD v4
19g.35033562G>CCA405328665SCN1Bc.271G>C (p.Val91Leu)
c.172G>C (p.Val58Leu)
c.208-150G>C (n.208-150G>C)
n.280G>C
19g.35033562G=CA2333466998SCN1Bc.271G= (p.Val91=)
c.172G= (p.Val58=)
c.208-150G= (n.208-150G=)
n.280G=
19g.35033562G>TCA405328666SCN1Bc.271G>T (p.Val91Leu)
c.172G>T (p.Val58Leu)
c.208-150G>T (n.208-150G>T)
n.280G>T
19g.35033563T>ACA405328667SCN1Bc.272T>A (p.Val91Glu)
c.173T>A (p.Val58Glu)
c.208-149T>A (n.208-149T>A)
n.281T>A
19g.35033563T>CCA405328668SCN1Bc.272T>C (p.Val91Ala)
c.173T>C (p.Val58Ala)
c.208-149T>C (n.208-149T>C)
n.281T>C
19g.35033563T>GCA405328669SCN1Bc.272T>G (p.Val91Gly)
c.173T>G (p.Val58Gly)
c.208-149T>G (n.208-149T>G)
n.281T>G
19g.35033564G>ACA9372000SCN1Bc.273G>A (p.Val91=)
c.174G>A (p.Val58=)
c.208-148G>A (n.208-148G>A)
n.282G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033564G>CCA507297962SCN1Bc.273G>C (p.Val91=)
c.174G>C (p.Val58=)
c.208-148G>C (n.208-148G>C)
n.282G>C
19g.35033564G=CA2333466999SCN1Bc.273G= (p.Val91=)
c.174G= (p.Val58=)
c.208-148G= (n.208-148G=)
n.282G=
19g.35033564G>TCA507297963SCN1Bc.273G>T (p.Val91=)
c.174G>T (p.Val58=)
c.208-148G>T (n.208-148G>T)
n.282G>T
19g.35033565T>ACA405328672SCN1Bc.274T>A (p.Trp92Arg)
c.175T>A (p.Trp59Arg)
c.208-147T>A (n.208-147T>A)
n.283T>A
19g.35033565T>CCA405328670SCN1Bc.274T>C (p.Trp92Arg)
c.175T>C (p.Trp59Arg)
c.208-147T>C (n.208-147T>C)
n.283T>C
ClinVar dbSNP
19g.35033565T>GCA405328671SCN1Bc.274T>G (p.Trp92Gly)
c.175T>G (p.Trp59Gly)
c.208-147T>G (n.208-147T>G)
n.283T>G
19g.35033566G>ACA405328673SCN1Bc.275G>A (p.Trp92Ter)
c.176G>A (p.Trp59Ter)
c.208-146G>A (n.208-146G>A)
n.284G>A
19g.35033566G>CCA405328674SCN1Bc.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
19g.35033566G=CA2333467000SCN1Bc.275G= (p.Trp92=)
c.176G= (p.Trp59=)
c.208-146G= (n.208-146G=)
n.284G=
19g.35033566G>TCA405328675SCN1Bc.275G>T (p.Trp92Leu)
c.176G>T (p.Trp59Leu)
c.208-146G>T (n.208-146G>T)
n.284G>T
19g.35033567G>ACA405328676SCN1Bc.276G>A (p.Trp92Ter)
c.177G>A (p.Trp59Ter)
c.208-145G>A (n.208-145G>A)
n.285G>A
dbSNP
19g.35033567G>CCA405328677SCN1Bc.276G>C (p.Trp92Cys)
c.177G>C (p.Trp59Cys)
c.208-145G>C (n.208-145G>C)
n.285G>C
19g.35033567G=CA2333467001SCN1Bc.276G= (p.Trp92=)
c.177G= (p.Trp59=)
c.208-145G= (n.208-145G=)
n.285G=
19g.35033567G>TCA405328678SCN1Bc.276G>T (p.Trp92Cys)
c.177G>T (p.Trp59Cys)
c.208-145G>T (n.208-145G>T)
n.285G>T
19g.35033568A>CCA405328679SCN1Bc.277A>C (p.Asn93His)
c.178A>C (p.Asn60His)
c.208-144A>C (n.208-144A>C)
n.286A>C
19g.35033568A>GCA405328680SCN1Bc.277A>G (p.Asn93Asp)
c.178A>G (p.Asn60Asp)
c.208-144A>G (n.208-144A>G)
n.286A>G
19g.35033568A>TCA405328681SCN1Bc.277A>T (p.Asn93Tyr)
c.178A>T (p.Asn60Tyr)
c.208-144A>T (n.208-144A>T)
n.286A>T
gnomAD v4
19g.35033569A=CA2333467002SCN1Bc.278A= (p.Asn93=)
c.179A= (p.Asn60=)
c.208-143A= (n.208-143A=)
n.287A=
19g.35033569A>CCA405328682SCN1Bc.278A>C (p.Asn93Thr)
c.179A>C (p.Asn60Thr)
c.208-143A>C (n.208-143A>C)
n.287A>C
19g.35033569A>GCA405328683SCN1Bc.278A>G (p.Asn93Ser)
c.179A>G (p.Asn60Ser)
c.208-143A>G (n.208-143A>G)
n.287A>G
dbSNP
19g.35033569A>TCA405328684SCN1Bc.278A>T (p.Asn93Ile)
c.179A>T (p.Asn60Ile)
c.208-143A>T (n.208-143A>T)
n.287A>T
19g.35033570T>ACA405328685SCN1Bc.279T>A (p.Asn93Lys)
c.180T>A (p.Asn60Lys)
c.208-142T>A (n.208-142T>A)
n.288T>A
19g.35033570T>CCA507297964SCN1Bc.279T>C (p.Asn93=)
c.180T>C (p.Asn60=)
c.208-142T>C (n.208-142T>C)
n.288T>C
19g.35033570T>GCA405328686SCN1Bc.279T>G (p.Asn93Lys)
c.180T>G (p.Asn60Lys)
c.208-142T>G (n.208-142T>G)
n.288T>G
19g.35033571G>ACA405328687SCN1Bc.280G>A (p.Gly94Ser)
c.181G>A (p.Gly61Ser)
c.208-141G>A (n.208-141G>A)
n.289G>A
19g.35033571G>CCA405328688SCN1Bc.280G>C (p.Gly94Arg)
c.181G>C (p.Gly61Arg)
c.208-141G>C (n.208-141G>C)
n.289G>C
19g.35033571G>TCA405328689SCN1Bc.280G>T (p.Gly94Cys)
c.181G>T (p.Gly61Cys)
c.208-141G>T (n.208-141G>T)
n.289G>T
19g.35033572G>ACA405328690SCN1Bc.281G>A (p.Gly94Asp)
c.182G>A (p.Gly61Asp)
c.208-140G>A (n.208-140G>A)
n.290G>A
19g.35033572G>CCA405328691SCN1Bc.281G>C (p.Gly94Ala)
c.182G>C (p.Gly61Ala)
c.208-140G>C (n.208-140G>C)
n.290G>C
19g.35033572G>TCA405328692SCN1Bc.281G>T (p.Gly94Val)
c.182G>T (p.Gly61Val)
c.208-140G>T (n.208-140G>T)
n.290G>T
ClinVar dbSNP
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=

Number of alleles fetched