Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.35033676T>ACA405328918SCN1Bc.385T>A (p.Phe129Ile)
c.286T>A (p.Phe96Ile)
c.208-36T>A (n.208-36T>A)
n.394T>A
19g.35033676T>CCA405328919SCN1Bc.385T>C (p.Phe129Leu)
c.286T>C (p.Phe96Leu)
c.208-36T>C (n.208-36T>C)
n.394T>C
19g.35033676T>GCA405328917SCN1Bc.385T>G (p.Phe129Val)
c.286T>G (p.Phe96Val)
c.208-36T>G (n.208-36T>G)
n.394T>G
19g.35033677T>ACA405328920SCN1Bc.386T>A (p.Phe129Tyr)
c.287T>A (p.Phe96Tyr)
c.208-35T>A (n.208-35T>A)
n.395T>A
 COSMIC COSMIC
19g.35033677T>CCA405328921SCN1Bc.386T>C (p.Phe129Ser)
c.287T>C (p.Phe96Ser)
c.208-35T>C (n.208-35T>C)
n.395T>C
19g.35033677T>GCA405328922SCN1Bc.386T>G (p.Phe129Cys)
c.287T>G (p.Phe96Cys)
c.208-35T>G (n.208-35T>G)
n.395T>G
19g.35033678C>ACA405328923SCN1Bc.387C>A (p.Phe129Leu)
c.288C>A (p.Phe96Leu)
c.208-34C>A (n.208-34C>A)
n.396C>A
 dbSNP
19g.35033678C=CA2333467043SCN1Bc.387C= (p.Phe129=)
c.288C= (p.Phe96=)
c.208-34C= (n.208-34C=)
n.396C=
19g.35033678C>GCA405328924SCN1Bc.387C>G (p.Phe129Leu)
c.288C>G (p.Phe96Leu)
c.208-34C>G (n.208-34C>G)
n.396C>G
19g.35033678C>TCA307703677SCN1Bc.387C>T (p.Phe129=)
c.288C>T (p.Phe96=)
c.208-34C>T (n.208-34C>T)
n.396C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033679G>ACA405328925SCN1Bc.388G>A (p.Glu130Lys)
c.289G>A (p.Glu97Lys)
c.208-33G>A (n.208-33G>A)
n.397G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033679G>CCA405328926SCN1Bc.388G>C (p.Glu130Gln)
c.289G>C (p.Glu97Gln)
c.208-33G>C (n.208-33G>C)
n.397G>C
19g.35033679G=CA2333467044SCN1Bc.388G= (p.Glu130=)
c.289G= (p.Glu97=)
c.208-33G= (n.208-33G=)
n.397G=
19g.35033679G>TCA405328927SCN1Bc.388G>T (p.Glu130Ter)
c.289G>T (p.Glu97Ter)
c.208-33G>T (n.208-33G>T)
n.397G>T
 dbSNP
19g.35033680A=CA2333467045SCN1Bc.389A= (p.Glu130=)
c.290A= (p.Glu97=)
c.208-32A= (n.208-32A=)
n.398A=
19g.35033680A>CCA405328928SCN1Bc.389A>C (p.Glu130Ala)
c.290A>C (p.Glu97Ala)
c.208-32A>C (n.208-32A>C)
n.398A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35033680A>GCA405328929SCN1Bc.389A>G (p.Glu130Gly)
c.290A>G (p.Glu97Gly)
c.208-32A>G (n.208-32A>G)
n.398A>G
19g.35033680A>TCA405328930SCN1Bc.389A>T (p.Glu130Val)
c.290A>T (p.Glu97Val)
c.208-32A>T (n.208-32A>T)
n.398A>T
19g.35033681A>CCA405328931SCN1Bc.390A>C (p.Glu130Asp)
c.291A>C (p.Glu97Asp)
c.208-31A>C (n.208-31A>C)
n.399A>C
19g.35033681A>GCA507298160SCN1Bc.390A>G (p.Glu130=)
c.291A>G (p.Glu97=)
c.208-31A>G (n.208-31A>G)
n.399A>G
19g.35033681A>TCA405328932SCN1Bc.390A>T (p.Glu130Asp)
c.291A>T (p.Glu97Asp)
c.208-31A>T (n.208-31A>T)
n.399A>T
19g.35033682A>CCA405328934SCN1Bc.391A>C (p.Asn131His)
c.292A>C (p.Asn98His)
c.208-30A>C (n.208-30A>C)
n.400A>C
19g.35033682A>GCA405328935SCN1Bc.391A>G (p.Asn131Asp)
c.292A>G (p.Asn98Asp)
c.208-30A>G (n.208-30A>G)
n.400A>G
19g.35033682A>TCA405328933SCN1Bc.391A>T (p.Asn131Tyr)
c.292A>T (p.Asn98Tyr)
c.208-30A>T (n.208-30A>T)
n.400A>T
19g.35033683A>CCA405328936SCN1Bc.392A>C (p.Asn131Thr)
c.293A>C (p.Asn98Thr)
c.208-29A>C (n.208-29A>C)
n.401A>C
 gnomAD v4
19g.35033683A>GCA405328937SCN1Bc.392A>G (p.Asn131Ser)
c.293A>G (p.Asn98Ser)
c.208-29A>G (n.208-29A>G)
n.401A>G
19g.35033683A>TCA405328938SCN1Bc.392A>T (p.Asn131Ile)
c.293A>T (p.Asn98Ile)
c.208-29A>T (n.208-29A>T)
n.401A>T
19g.35033684C>ACA405328939SCN1Bc.393C>A (p.Asn131Lys)
c.294C>A (p.Asn98Lys)
c.208-28C>A (n.208-28C>A)
n.402C>A
19g.35033684C>GCA405328940SCN1Bc.393C>G (p.Asn131Lys)
c.294C>G (p.Asn98Lys)
c.208-28C>G (n.208-28C>G)
n.402C>G
19g.35033684C>TCA507298168SCN1Bc.393C>T (p.Asn131=)
c.294C>T (p.Asn98=)
c.208-28C>T (n.208-28C>T)
n.402C>T
19g.35033685T>ACA405328943SCN1Bc.394T>A (p.Tyr132Asn)
c.295T>A (p.Tyr99Asn)
c.208-27T>A (n.208-27T>A)
n.403T>A
19g.35033685T>CCA405328942SCN1Bc.394T>C (p.Tyr132His)
c.295T>C (p.Tyr99His)
c.208-27T>C (n.208-27T>C)
n.403T>C
19g.35033685T>GCA405328941SCN1Bc.394T>G (p.Tyr132Asp)
c.295T>G (p.Tyr99Asp)
c.208-27T>G (n.208-27T>G)
n.403T>G
19g.35033686A=CA2333467046SCN1Bc.395A= (p.Tyr132=)
c.296A= (p.Tyr99=)
c.208-26A= (n.208-26A=)
n.404A=
19g.35033686A>CCA405328944SCN1Bc.395A>C (p.Tyr132Ser)
c.296A>C (p.Tyr99Ser)
c.208-26A>C (n.208-26A>C)
n.404A>C
19g.35033686A>GCA405328945SCN1Bc.395A>G (p.Tyr132Cys)
c.296A>G (p.Tyr99Cys)
c.208-26A>G (n.208-26A>G)
n.404A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033686A>TCA405328946SCN1Bc.395A>T (p.Tyr132Phe)
c.296A>T (p.Tyr99Phe)
c.208-26A>T (n.208-26A>T)
n.404A>T
19g.35033687C>ACA405328947SCN1Bc.396C>A (p.Tyr132Ter)
c.297C>A (p.Tyr99Ter)
c.208-25C>A (n.208-25C>A)
n.405C>A
19g.35033687C=CA2333467047SCN1Bc.396C= (p.Tyr132=)
c.297C= (p.Tyr99=)
c.208-25C= (n.208-25C=)
n.405C=
19g.35033687C>GCA405328948SCN1Bc.396C>G (p.Tyr132Ter)
c.297C>G (p.Tyr99Ter)
c.208-25C>G (n.208-25C>G)
n.405C>G
 ClinVar dbSNP
19g.35033687C>TCA307703679SCN1Bc.396C>T (p.Tyr132=)
c.297C>T (p.Tyr99=)
c.208-25C>T (n.208-25C>T)
n.405C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35033688G>ACA405328951SCN1Bc.397G>A (p.Glu133Lys)
c.298G>A (p.Glu100Lys)
c.208-24G>A (n.208-24G>A)
n.406G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033688G>CCA405328950SCN1Bc.397G>C (p.Glu133Gln)
c.298G>C (p.Glu100Gln)
c.208-24G>C (n.208-24G>C)
n.406G>C
19g.35033688G=CA2333467048SCN1Bc.397G= (p.Glu133=)
c.298G= (p.Glu100=)
c.208-24G= (n.208-24G=)
n.406G=
19g.35033688G>TCA405328949SCN1Bc.397G>T (p.Glu133Ter)
c.298G>T (p.Glu100Ter)
c.208-24G>T (n.208-24G>T)
n.406G>T
 dbSNP
19g.35033689A>CCA405328952SCN1Bc.398A>C (p.Glu133Ala)
c.299A>C (p.Glu100Ala)
c.208-23A>C (n.208-23A>C)
n.407A>C
19g.35033689A>GCA405328954SCN1Bc.398A>G (p.Glu133Gly)
c.299A>G (p.Glu100Gly)
c.208-23A>G (n.208-23A>G)
n.407A>G
19g.35033689A>TCA405328953SCN1Bc.398A>T (p.Glu133Val)
c.299A>T (p.Glu100Val)
c.208-23A>T (n.208-23A>T)
n.407A>T
19g.35033690G>ACA507298177SCN1Bc.399G>A (p.Glu133=)
c.300G>A (p.Glu100=)
c.208-22G>A (n.208-22G>A)
n.408G>A
 ClinVar
19g.35033690G>CCA405328955SCN1Bc.399G>C (p.Glu133Asp)
c.300G>C (p.Glu100Asp)
c.208-22G>C (n.208-22G>C)
n.408G>C
19g.35033690G>TCA405328956SCN1Bc.399G>T (p.Glu133Asp)
c.300G>T (p.Glu100Asp)
c.208-22G>T (n.208-22G>T)
n.408G>T
19g.35033691C>ACA405328957SCN1Bc.400C>A (p.His134Asn)
c.301C>A (p.His101Asn)
c.208-21C>A (n.208-21C>A)
n.409C>A
19g.35033691C>GCA405328959SCN1Bc.400C>G (p.His134Asp)
c.301C>G (p.His101Asp)
c.208-21C>G (n.208-21C>G)
n.409C>G
19g.35033691C>TCA405328958SCN1Bc.400C>T (p.His134Tyr)
c.301C>T (p.His101Tyr)
c.208-21C>T (n.208-21C>T)
n.409C>T
19g.35033691_35033694delinsCACACA2333467049SCN1Bc.400_403delinsCACA (p.His134=)
c.301_304delinsCACA (p.His101=)
c.208-21_208-18delinsCACA (n.208-21_208-18delinsCACA)
n.409_412delinsCACA
19g.35033692A>CCA405328960SCN1Bc.401A>C (p.His134Pro)
c.302A>C (p.His101Pro)
c.208-20A>C (n.208-20A>C)
n.410A>C
19g.35033692A>GCA405328962SCN1Bc.401A>G (p.His134Arg)
c.302A>G (p.His101Arg)
c.208-20A>G (n.208-20A>G)
n.410A>G
19g.35033692A>TCA405328961SCN1Bc.401A>T (p.His134Leu)
c.302A>T (p.His101Leu)
c.208-20A>T (n.208-20A>T)
n.410A>T
19g.35033695_35033697delCA2333467050SCN1Bc.404_406del (p.Asn135del)
c.305_307del (p.Asn102del)
c.208-17_208-15del (n.208-17_208-15del)
n.413_415del
 ClinVar dbSNP
19g.35033693C>ACA405328963SCN1Bc.402C>A (p.His134Gln)
c.303C>A (p.His101Gln)
c.208-19C>A (n.208-19C>A)
n.411C>A
19g.35033693C=CA2333467051SCN1Bc.402C= (p.His134=)
c.303C= (p.His101=)
c.208-19C= (n.208-19C=)
n.411C=
19g.35033693C>GCA405328964SCN1Bc.402C>G (p.His134Gln)
c.303C>G (p.His101Gln)
c.208-19C>G (n.208-19C>G)
n.411C>G
19g.35033693C>TCA9372010SCN1Bc.402C>T (p.His134=)
c.303C>T (p.His101=)
c.208-19C>T (n.208-19C>T)
n.411C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35033694A>CCA405328965SCN1Bc.403A>C (p.Asn135His)
c.304A>C (p.Asn102His)
c.208-18A>C (n.208-18A>C)
n.412A>C
19g.35033694A>GCA405328967SCN1Bc.403A>G (p.Asn135Asp)
c.304A>G (p.Asn102Asp)
c.208-18A>G (n.208-18A>G)
n.412A>G
19g.35033694A>TCA405328966SCN1Bc.403A>T (p.Asn135Tyr)
c.304A>T (p.Asn102Tyr)
c.208-18A>T (n.208-18A>T)
n.412A>T
19g.35033695A>CCA405328968SCN1Bc.404A>C (p.Asn135Thr)
c.305A>C (p.Asn102Thr)
c.208-17A>C (n.208-17A>C)
n.413A>C
19g.35033695A>GCA405328969SCN1Bc.404A>G (p.Asn135Ser)
c.305A>G (p.Asn102Ser)
c.208-17A>G (n.208-17A>G)
n.413A>G
19g.35033695A>TCA405328970SCN1Bc.404A>T (p.Asn135Ile)
c.305A>T (p.Asn102Ile)
c.208-17A>T (n.208-17A>T)
n.413A>T
19g.35033696delCA2695223175SCN1Bc.405del (p.Asn135LysfsTer12)
c.306del (p.Asn102LysfsTer12)
c.208-16del (n.208-16del)
n.414del
19g.35033696C>ACA405328971SCN1Bc.405C>A (p.Asn135Lys)
c.306C>A (p.Asn102Lys)
c.208-16C>A (n.208-16C>A)
n.414C>A
19g.35033696C=CA2333467052SCN1Bc.405C= (p.Asn135=)
c.306C= (p.Asn102=)
c.208-16C= (n.208-16C=)
n.414C=
19g.35033696C>GCA9372011SCN1Bc.405C>G (p.Asn135Lys)
c.306C>G (p.Asn102Lys)
c.208-16C>G (n.208-16C>G)
n.414C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033696C>TCA507298188SCN1Bc.405C>T (p.Asn135=)
c.306C>T (p.Asn102=)
c.208-16C>T (n.208-16C>T)
n.414C>T
19g.35033697A>CCA405328972SCN1Bc.406A>C (p.Thr136Pro)
c.307A>C (p.Thr103Pro)
c.208-15A>C (n.208-15A>C)
n.415A>C
19g.35033697A>GCA405328973SCN1Bc.406A>G (p.Thr136Ala)
c.307A>G (p.Thr103Ala)
c.208-15A>G (n.208-15A>G)
n.415A>G
19g.35033697A>TCA405328974SCN1Bc.406A>T (p.Thr136Ser)
c.307A>T (p.Thr103Ser)
c.208-15A>T (n.208-15A>T)
n.415A>T
19g.35033698C>ACA405328975SCN1Bc.407C>A (p.Thr136Asn)
c.308C>A (p.Thr103Asn)
c.208-14C>A (n.208-14C>A)
n.416C>A
 dbSNP
19g.35033698C=CA2333467053SCN1Bc.407C= (p.Thr136=)
c.308C= (p.Thr103=)
c.208-14C= (n.208-14C=)
n.416C=
19g.35033698C>GCA405328976SCN1Bc.407C>G (p.Thr136Ser)
c.308C>G (p.Thr103Ser)
c.208-14C>G (n.208-14C>G)
n.416C>G
19g.35033698C>TCA405328977SCN1Bc.407C>T (p.Thr136Ile)
c.308C>T (p.Thr103Ile)
c.208-14C>T (n.208-14C>T)
n.416C>T
19g.35033699C>ACA507298193SCN1Bc.408C>A (p.Thr136=)
c.309C>A (p.Thr103=)
c.208-13C>A (n.208-13C>A)
n.417C>A
19g.35033699C=CA2333467054SCN1Bc.408C= (p.Thr136=)
c.309C= (p.Thr103=)
c.208-13C= (n.208-13C=)
n.417C=
19g.35033699C>GCA507298194SCN1Bc.408C>G (p.Thr136=)
c.309C>G (p.Thr103=)
c.208-13C>G (n.208-13C>G)
n.417C>G
19g.35033699C>TCA9372012SCN1Bc.408C>T (p.Thr136=)
c.309C>T (p.Thr103=)
c.208-13C>T (n.208-13C>T)
n.417C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033700A=CA2333467055SCN1Bc.409A= (p.Ser137=)
c.310A= (p.Ser104=)
c.208-12A= (n.208-12A=)
n.418A=
19g.35033700A>CCA405328978SCN1Bc.409A>C (p.Ser137Arg)
c.310A>C (p.Ser104Arg)
c.208-12A>C (n.208-12A>C)
n.418A>C
19g.35033700A>GCA405328980SCN1Bc.409A>G (p.Ser137Gly)
c.310A>G (p.Ser104Gly)
c.208-12A>G (n.208-12A>G)
n.418A>G
19g.35033700A>TCA405328979SCN1Bc.409A>T (p.Ser137Cys)
c.310A>T (p.Ser104Cys)
c.208-12A>T (n.208-12A>T)
n.418A>T
19g.35033701G>ACA405328981SCN1Bc.410G>A (p.Ser137Asn)
c.311G>A (p.Ser104Asn)
c.208-11G>A (n.208-11G>A)
n.419G>A
 COSMIC
19g.35033701G>CCA405328982SCN1Bc.410G>C (p.Ser137Thr)
c.311G>C (p.Ser104Thr)
c.208-11G>C (n.208-11G>C)
n.419G>C
19g.35033701G>TCA405328983SCN1Bc.410G>T (p.Ser137Ile)
c.311G>T (p.Ser104Ile)
c.208-11G>T (n.208-11G>T)
n.419G>T
19g.35033701_35033704delinsGCGTCA2333467056SCN1Bc.410_413delinsGCGT (p.Ser137=)
c.311_314delinsGCGT (p.Ser104=)
c.208-11_208-8delinsGCGT (n.208-11_208-8delinsGCGT)
n.419_422delinsGCGT
19g.35033702C>ACA405328984SCN1Bc.411C>A (p.Ser137Arg)
c.312C>A (p.Ser104Arg)
c.208-10C>A (n.208-10C>A)
n.420C>A
19g.35033702C=CA2333467057SCN1Bc.411C= (p.Ser137=)
c.312C= (p.Ser104=)
c.208-10C= (n.208-10C=)
n.420C=
19g.35033702C>GCA405328985SCN1Bc.411C>G (p.Ser137Arg)
c.312C>G (p.Ser104Arg)
c.208-10C>G (n.208-10C>G)
n.420C>G
19g.35033702C>TCA9372013SCN1Bc.411C>T (p.Ser137=)
c.312C>T (p.Ser104=)
c.208-10C>T (n.208-10C>T)
n.420C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033706_35033708delCA2333467058SCN1Bc.415_417del (p.Val139del)
c.316_318del (p.Val106del)
c.208-6_208-4del (n.208-6_208-4del)
n.424_426del
 ClinVar dbSNP
19g.35033703G>ACA200177SCN1Bc.412G>A (p.Val138Ile)
c.313G>A (p.Val105Ile)
c.208-9G>A (n.208-9G>A)
n.421G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033703G>CCA405328986SCN1Bc.412G>C (p.Val138Leu)
c.313G>C (p.Val105Leu)
c.208-9G>C (n.208-9G>C)
n.421G>C
19g.35033703G=CA2333467059SCN1Bc.412G= (p.Val138=)
c.313G= (p.Val105=)
c.208-9G= (n.208-9G=)
n.421G=
19g.35033703G>TCA405328987SCN1Bc.412G>T (p.Val138Phe)
c.313G>T (p.Val105Phe)
c.208-9G>T (n.208-9G>T)
n.421G>T
 dbSNP gnomAD v2 gnomAD v4
19g.35033704T>ACA405328989SCN1Bc.413T>A (p.Val138Asp)
c.314T>A (p.Val105Asp)
c.208-8T>A (n.208-8T>A)
n.422T>A
19g.35033704T>CCA405328990SCN1Bc.413T>C (p.Val138Ala)
c.314T>C (p.Val105Ala)
c.208-8T>C (n.208-8T>C)
n.422T>C
 dbSNP
19g.35033704T>GCA405328988SCN1Bc.413T>G (p.Val138Gly)
c.314T>G (p.Val105Gly)
c.208-8T>G (n.208-8T>G)
n.422T>G
19g.35033704T=CA2333467060SCN1Bc.413T= (p.Val138=)
c.314T= (p.Val105=)
c.208-8T= (n.208-8T=)
n.422T=
19g.35033705C>ACA507298206SCN1Bc.414C>A (p.Val138=)
c.315C>A (p.Val105=)
c.208-7C>A (n.208-7C>A)
n.423C>A
19g.35033705C=CA2333467061SCN1Bc.414C= (p.Val138=)
c.315C= (p.Val105=)
c.208-7C= (n.208-7C=)
n.423C=
19g.35033705C>GCA507298208SCN1Bc.414C>G (p.Val138=)
c.315C>G (p.Val105=)
c.208-7C>G (n.208-7C>G)
n.423C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033705C>TCA9372014SCN1Bc.414C>T (p.Val138=)
c.315C>T (p.Val105=)
c.208-7C>T (n.208-7C>T)
n.423C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033706G>ACA9372015SCN1Bc.415G>A (p.Val139Ile)
c.316G>A (p.Val106Ile)
c.208-6G>A (n.208-6G>A)
n.424G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.35033706G>CCA405328991SCN1Bc.415G>C (p.Val139Leu)
c.316G>C (p.Val106Leu)
c.208-6G>C (n.208-6G>C)
n.424G>C
19g.35033706G=CA2333467062SCN1Bc.415G= (p.Val139=)
c.316G= (p.Val106=)
c.208-6G= (n.208-6G=)
n.424G=
19g.35033706G>TCA405328992SCN1Bc.415G>T (p.Val139Phe)
c.316G>T (p.Val106Phe)
c.208-6G>T (n.208-6G>T)
n.424G>T
 ClinVar
19g.35033707T>ACA405328995SCN1Bc.416T>A (p.Val139Asp)
c.317T>A (p.Val106Asp)
c.208-5T>A (n.208-5T>A)
n.425T>A
19g.35033707T>CCA405328994SCN1Bc.416T>C (p.Val139Ala)
c.317T>C (p.Val106Ala)
c.208-5T>C (n.208-5T>C)
n.425T>C
19g.35033707T>GCA405328993SCN1Bc.416T>G (p.Val139Gly)
c.317T>G (p.Val106Gly)
c.208-5T>G (n.208-5T>G)
n.425T>G
19g.35033708C>ACA507298216SCN1Bc.417C>A (p.Val139=)
c.318C>A (p.Val106=)
c.208-4C>A (n.208-4C>A)
n.426C>A
19g.35033708C>GCA507298217SCN1Bc.417C>G (p.Val139=)
c.318C>G (p.Val106=)
c.208-4C>G (n.208-4C>G)
n.426C>G
19g.35033708C>TCA507298218SCN1Bc.417C>T (p.Val139=)
c.318C>T (p.Val106=)
c.208-4C>T (n.208-4C>T)
n.426C>T
19g.35033709A>CCA405328996SCN1Bc.418A>C (p.Lys140Gln)
c.319A>C (p.Lys107Gln)
c.208-3A>C (n.208-3A>C)
n.427A>C
19g.35033709A>GCA405328997SCN1Bc.418A>G (p.Lys140Glu)
c.319A>G (p.Lys107Glu)
c.208-3A>G (n.208-3A>G)
n.427A>G
19g.35033709A>TCA405328998SCN1Bc.418A>T (p.Lys140Ter)
c.319A>T (p.Lys107Ter)
c.208-3A>T (n.208-3A>T)
n.427A>T
19g.35033710A>CCA405328999SCN1Bc.419A>C (p.Lys140Thr)
c.320A>C (p.Lys107Thr)
c.208-2A>C (n.208-2A>C)
n.428A>C
 ClinVar
19g.35033710A>GCA405329000SCN1Bc.419A>G (p.Lys140Arg)
c.320A>G (p.Lys107Arg)
c.208-2A>G (n.208-2A>G)
n.428A>G
19g.35033710A>TCA405329001SCN1Bc.419A>T (p.Lys140Met)
c.320A>T (p.Lys107Met)
c.208-2A>T (n.208-2A>T)
n.428A>T
19g.35033711G>ACA405329002SCN1Bc.420G>A (p.Lys140=)
c.321G>A (p.Lys107=)
c.208-1G>A (n.208-1G>A)
n.429G>A
 gnomAD v4
19g.35033711G>CCA405329004SCN1Bc.420G>C (p.Lys140Asn)
c.321G>C (p.Lys107Asn)
c.208-1G>C (n.208-1G>C)
n.429G>C
 ClinVar dbSNP COSMIC COSMIC
19g.35033711G>TCA405329003SCN1Bc.420G>T (p.Lys140Asn)
c.321G>T (p.Lys107Asn)
c.208-1G>T (n.208-1G>T)
n.429G>T
19g.35033712A>CCA405329005SCN1Bc.421A>C (p.Lys141Gln)
c.322A>C (p.Lys108Gln)
c.208A>C (p.Lys70Gln)
n.430A>C
19g.35033712A>GCA405329006SCN1Bc.421A>G (p.Lys141Glu)
c.322A>G (p.Lys108Glu)
c.208A>G (p.Lys70Glu)
n.430A>G
19g.35033712A>TCA405329007SCN1Bc.421A>T (p.Lys141Ter)
c.322A>T (p.Lys108Ter)
c.208A>T (p.Lys70Ter)
n.430A>T
19g.35033713A>CCA405329008SCN1Bc.422A>C (p.Lys141Thr)
c.323A>C (p.Lys108Thr)
c.209A>C (p.Lys70Thr)
n.431A>C
19g.35033713A>GCA405329009SCN1Bc.422A>G (p.Lys141Arg)
c.323A>G (p.Lys108Arg)
c.209A>G (p.Lys70Arg)
n.431A>G
19g.35033713A>TCA405329010SCN1Bc.422A>T (p.Lys141Met)
c.323A>T (p.Lys108Met)
c.209A>T (p.Lys70Met)
n.431A>T
19g.35033714G>ACA507298227SCN1Bc.423G>A (p.Lys141=)
c.324G>A (p.Lys108=)
c.210G>A (p.Lys70=)
n.432G>A
19g.35033714G>CCA405329011SCN1Bc.423G>C (p.Lys141Asn)
c.324G>C (p.Lys108Asn)
c.210G>C (p.Lys70Asn)
n.432G>C
19g.35033714G>TCA405329012SCN1Bc.423G>T (p.Lys141Asn)
c.324G>T (p.Lys108Asn)
c.210G>T (p.Lys70Asn)
n.432G>T
19g.35033715A>CCA405329013SCN1Bc.424A>C (p.Ile142Leu)
c.325A>C (p.Ile109Leu)
c.211A>C (p.Ile71Leu)
n.433A>C
19g.35033715A>GCA405329014SCN1Bc.424A>G (p.Ile142Val)
c.325A>G (p.Ile109Val)
c.211A>G (p.Ile71Val)
n.433A>G
 ClinVar
19g.35033715A>TCA405329015SCN1Bc.424A>T (p.Ile142Phe)
c.325A>T (p.Ile109Phe)
c.211A>T (p.Ile71Phe)
n.433A>T
 gnomAD v4 COSMIC COSMIC
19g.35033716T>ACA405329018SCN1Bc.425T>A (p.Ile142Asn)
c.326T>A (p.Ile109Asn)
c.212T>A (p.Ile71Asn)
n.434T>A
19g.35033716T>CCA405329017SCN1Bc.425T>C (p.Ile142Thr)
c.326T>C (p.Ile109Thr)
c.212T>C (p.Ile71Thr)
n.434T>C
19g.35033716T>GCA405329016SCN1Bc.425T>G (p.Ile142Ser)
c.326T>G (p.Ile109Ser)
c.212T>G (p.Ile71Ser)
n.434T>G
19g.35033717C>ACA507298236SCN1Bc.426C>A (p.Ile142=)
c.327C>A (p.Ile109=)
c.213C>A (p.Ile71=)
n.435C>A
 gnomAD v4
19g.35033717C>GCA405329019SCN1Bc.426C>G (p.Ile142Met)
c.327C>G (p.Ile109Met)
c.213C>G (p.Ile71Met)
n.435C>G
19g.35033717C>TCA507298235SCN1Bc.426C>T (p.Ile142=)
c.327C>T (p.Ile109=)
c.213C>T (p.Ile71=)
n.435C>T
19g.35033718C>ACA405329022SCN1Bc.427C>A (p.His143Asn)
c.328C>A (p.His110Asn)
c.214C>A (p.His72Asn)
n.436C>A
19g.35033718C>GCA405329020SCN1Bc.427C>G (p.His143Asp)
c.328C>G (p.His110Asp)
c.214C>G (p.His72Asp)
n.436C>G
19g.35033718C>TCA405329021SCN1Bc.427C>T (p.His143Tyr)
c.328C>T (p.His110Tyr)
c.214C>T (p.His72Tyr)
n.436C>T
19g.35033719A>CCA405329023SCN1Bc.428A>C (p.His143Pro)
c.329A>C (p.His110Pro)
c.215A>C (p.His72Pro)
n.437A>C
19g.35033719A>GCA405329024SCN1Bc.428A>G (p.His143Arg)
c.329A>G (p.His110Arg)
c.215A>G (p.His72Arg)
n.437A>G
19g.35033719A>TCA405329025SCN1Bc.428A>T (p.His143Leu)
c.329A>T (p.His110Leu)
c.215A>T (p.His72Leu)
n.437A>T
19g.35033720C>ACA405329026SCN1Bc.429C>A (p.His143Gln)
c.330C>A (p.His110Gln)
c.216C>A (p.His72Gln)
n.438C>A
19g.35033720C=CA2333467063SCN1Bc.429C= (p.His143=)
c.330C= (p.His110=)
c.216C= (p.His72=)
n.438C=
19g.35033720C>GCA405329027SCN1Bc.429C>G (p.His143Gln)
c.330C>G (p.His110Gln)
c.216C>G (p.His72Gln)
n.438C>G
19g.35033720C>TCA507298241SCN1Bc.429C>T (p.His143=)
c.330C>T (p.His110=)
c.216C>T (p.His72=)
n.438C>T
 ClinVar dbSNP
19g.35033721A=CA2333467064SCN1Bc.430A= (p.Ile144=)
c.331A= (p.Ile111=)
c.217A= (p.Ile73=)
n.439A=
19g.35033721A>CCA405329028SCN1Bc.430A>C (p.Ile144Leu)
c.331A>C (p.Ile111Leu)
c.217A>C (p.Ile73Leu)
n.439A>C
19g.35033721A>GCA9372016SCN1Bc.430A>G (p.Ile144Val)
c.331A>G (p.Ile111Val)
c.217A>G (p.Ile73Val)
n.439A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35033721A>TCA405329029SCN1Bc.430A>T (p.Ile144Phe)
c.331A>T (p.Ile111Phe)
c.217A>T (p.Ile73Phe)
n.439A>T
19g.35033722T>ACA405329032SCN1Bc.431T>A (p.Ile144Asn)
c.332T>A (p.Ile111Asn)
c.218T>A (p.Ile73Asn)
n.440T>A
19g.35033722T>CCA405329031SCN1Bc.431T>C (p.Ile144Thr)
c.332T>C (p.Ile111Thr)
c.218T>C (p.Ile73Thr)
n.440T>C
 ClinVar
19g.35033722T>GCA405329030SCN1Bc.431T>G (p.Ile144Ser)
c.332T>G (p.Ile111Ser)
c.218T>G (p.Ile73Ser)
n.440T>G
19g.35033723T>ACA507298246SCN1Bc.432T>A (p.Ile144=)
c.333T>A (p.Ile111=)
c.219T>A (p.Ile73=)
n.441T>A
19g.35033723T>CCA507298248SCN1Bc.432T>C (p.Ile144=)
c.333T>C (p.Ile111=)
c.219T>C (p.Ile73=)
n.441T>C
19g.35033723T>GCA9372017SCN1Bc.432T>G (p.Ile144Met)
c.333T>G (p.Ile111Met)
c.219T>G (p.Ile73Met)
n.441T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35033723T=CA2333467065SCN1Bc.432T= (p.Ile144=)
c.333T= (p.Ile111=)
c.219T= (p.Ile73=)
n.441T=
19g.35033724G>ACA405329033SCN1Bc.433G>A (p.Glu145Lys)
c.334G>A (p.Glu112Lys)
c.220G>A (p.Glu74Lys)
n.442G>A
19g.35033724G>CCA405329034SCN1Bc.433G>C (p.Glu145Gln)
c.334G>C (p.Glu112Gln)
c.220G>C (p.Glu74Gln)
n.442G>C
19g.35033724G=CA2333467066SCN1Bc.433G= (p.Glu145=)
c.334G= (p.Glu112=)
c.220G= (p.Glu74=)
n.442G=
19g.35033724G>TCA405329035SCN1Bc.433G>T (p.Glu145Ter)
c.334G>T (p.Glu112Ter)
c.220G>T (p.Glu74Ter)
n.442G>T
 dbSNP
19g.35033725A>CCA405329036SCN1Bc.434A>C (p.Glu145Ala)
c.335A>C (p.Glu112Ala)
c.221A>C (p.Glu74Ala)
n.443A>C
19g.35033725A>GCA405329037SCN1Bc.434A>G (p.Glu145Gly)
c.335A>G (p.Glu112Gly)
c.221A>G (p.Glu74Gly)
n.443A>G
19g.35033725A>TCA405329038SCN1Bc.434A>T (p.Glu145Val)
c.335A>T (p.Glu112Val)
c.221A>T (p.Glu74Val)
n.443A>T
19g.35033726G>ACA507298250SCN1Bc.435G>A (p.Glu145=)
c.336G>A (p.Glu112=)
c.222G>A (p.Glu74=)
n.444G>A
 gnomAD v4
19g.35033726G>CCA405329039SCN1Bc.435G>C (p.Glu145Asp)
c.336G>C (p.Glu112Asp)
c.222G>C (p.Glu74Asp)
n.444G>C
19g.35033726G>TCA405329040SCN1Bc.435G>T (p.Glu145Asp)
c.336G>T (p.Glu112Asp)
c.222G>T (p.Glu74Asp)
n.444G>T
19g.35033727G>ACA405329041SCN1Bc.436G>A (p.Val146Ile)
c.337G>A (p.Val113Ile)
c.223G>A (p.Val75Ile)
n.445G>A
 dbSNP COSMIC
19g.35033727G>CCA405329042SCN1Bc.436G>C (p.Val146Leu)
c.337G>C (p.Val113Leu)
c.223G>C (p.Val75Leu)
n.445G>C
19g.35033727G=CA2333467067SCN1Bc.436G= (p.Val146=)
c.337G= (p.Val113=)
c.223G= (p.Val75=)
n.445G=
19g.35033727G>TCA405329043SCN1Bc.436G>T (p.Val146Leu)
c.337G>T (p.Val113Leu)
c.223G>T (p.Val75Leu)
n.445G>T
19g.35033728T>ACA405329045SCN1Bc.437T>A (p.Val146Glu)
c.338T>A (p.Val113Glu)
c.224T>A (p.Val75Glu)
n.446T>A
19g.35033728T>CCA405329046SCN1Bc.437T>C (p.Val146Ala)
c.338T>C (p.Val113Ala)
c.224T>C (p.Val75Ala)
n.446T>C
19g.35033728T>GCA405329044SCN1Bc.437T>G (p.Val146Gly)
c.338T>G (p.Val113Gly)
c.224T>G (p.Val75Gly)
n.446T>G
19g.35033729A>CCA507298252SCN1Bc.438A>C (p.Val146=)
c.339A>C (p.Val113=)
c.225A>C (p.Val75=)
n.447A>C
19g.35033729A>GCA507298253SCN1Bc.438A>G (p.Val146=)
c.339A>G (p.Val113=)
c.225A>G (p.Val75=)
n.447A>G
19g.35033729A>TCA507298254SCN1Bc.438A>T (p.Val146=)
c.339A>T (p.Val113=)
c.225A>T (p.Val75=)
n.447A>T
19g.35033730G>ACA9372018SCN1Bc.439G>A (p.Val147Met)
c.340G>A (p.Val114Met)
c.226G>A (p.Val76Met)
n.448G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033730G>CCA405329047SCN1Bc.439G>C (p.Val147Leu)
c.340G>C (p.Val114Leu)
c.226G>C (p.Val76Leu)
n.448G>C
19g.35033730G=CA2333467068SCN1Bc.439G= (p.Val147=)
c.340G= (p.Val114=)
c.226G= (p.Val76=)
n.448G=
19g.35033730G>TCA405329048SCN1Bc.439G>T (p.Val147Leu)
c.340G>T (p.Val114Leu)
c.226G>T (p.Val76Leu)
n.448G>T
19g.35033731T>ACA405329049SCN1Bc.440T>A (p.Val147Glu)
c.341T>A (p.Val114Glu)
c.227T>A (p.Val76Glu)
n.449T>A
19g.35033731T>CCA405329050SCN1Bc.440T>C (p.Val147Ala)
c.341T>C (p.Val114Ala)
c.227T>C (p.Val76Ala)
n.449T>C
19g.35033731T>GCA405329051SCN1Bc.440T>G (p.Val147Gly)
c.341T>G (p.Val114Gly)
c.227T>G (p.Val76Gly)
n.449T>G
19g.35033732G>ACA507298255SCN1Bc.441G>A (p.Val147=)
c.342G>A (p.Val114=)
c.228G>A (p.Val76=)
n.450G>A
 gnomAD v4
19g.35033732G>CCA507298256SCN1Bc.441G>C (p.Val147=)
c.342G>C (p.Val114=)
c.228G>C (p.Val76=)
n.450G>C
19g.35033732G>TCA507298257SCN1Bc.441G>T (p.Val147=)
c.342G>T (p.Val114=)
c.228G>T (p.Val76=)
n.450G>T
19g.35033733G>ACA405329054SCN1Bc.442G>A (p.Asp148Asn)
c.343G>A (p.Asp115Asn)
c.229G>A (p.Asp77Asn)
n.451G>A
19g.35033733G>CCA405329052SCN1Bc.442G>C (p.Asp148His)
c.343G>C (p.Asp115His)
c.229G>C (p.Asp77His)
n.451G>C
19g.35033733G>TCA405329053SCN1Bc.442G>T (p.Asp148Tyr)
c.343G>T (p.Asp115Tyr)
c.229G>T (p.Asp77Tyr)
n.451G>T
19g.35033734A>CCA405329055SCN1Bc.443A>C (p.Asp148Ala)
c.344A>C (p.Asp115Ala)
c.230A>C (p.Asp77Ala)
n.452A>C
19g.35033734A>GCA405329056SCN1Bc.443A>G (p.Asp148Gly)
c.344A>G (p.Asp115Gly)
c.230A>G (p.Asp77Gly)
n.452A>G
19g.35033734A>TCA405329057SCN1Bc.443A>T (p.Asp148Val)
c.344A>T (p.Asp115Val)
c.230A>T (p.Asp77Val)
n.452A>T
19g.35033735C>ACA405329058SCN1Bc.444C>A (p.Asp148Glu)
c.345C>A (p.Asp115Glu)
c.231C>A (p.Asp77Glu)
n.453C>A
19g.35033735C>GCA405329059SCN1Bc.444C>G (p.Asp148Glu)
c.345C>G (p.Asp115Glu)
c.231C>G (p.Asp77Glu)
n.453C>G
19g.35033735C>TCA507298259SCN1Bc.444C>T (p.Asp148=)
c.345C>T (p.Asp115=)
c.231C>T (p.Asp77=)
n.453C>T
 ClinVar dbSNP gnomAD v4
19g.35033736A=CA2333467069SCN1Bc.445A= (p.Lys149=)
c.346A= (p.Lys116=)
c.232A= (p.Lys78=)
n.454A=
19g.35033736A>CCA405329060SCN1Bc.445A>C (p.Lys149Gln)
c.346A>C (p.Lys116Gln)
c.232A>C (p.Lys78Gln)
n.454A>C
19g.35033736A>GCA405329062SCN1Bc.445A>G (p.Lys149Glu)
c.346A>G (p.Lys116Glu)
c.232A>G (p.Lys78Glu)
n.454A>G
19g.35033736A>TCA405329061SCN1Bc.445A>T (p.Lys149Ter)
c.346A>T (p.Lys116Ter)
c.232A>T (p.Lys78Ter)
n.454A>T
 dbSNP
19g.35033738delCA2580096803SCN1Bc.447del (p.Gly150ValfsTer?)
c.447del (p.Ala150ProfsTer13)
c.348del (p.Ala117ProfsTer13)
c.348del (p.Gly117ValfsTer?)
c.348del (p.Glu117ArgfsTer?)
c.234del (p.Ala79ProfsTer13)
n.456del
 ClinVar
19g.35033737A>CCA405329063SCN1Bc.446A>C (p.Lys149Thr)
c.347A>C (p.Lys116Thr)
c.233A>C (p.Lys78Thr)
n.455A>C
19g.35033737A>GCA405329064SCN1Bc.446A>G (p.Lys149Arg)
c.347A>G (p.Lys116Arg)
c.233A>G (p.Lys78Arg)
n.455A>G
 gnomAD v4
19g.35033737A>TCA405329065SCN1Bc.446A>T (p.Lys149Ile)
c.347A>T (p.Lys116Ile)
c.233A>T (p.Lys78Ile)
n.455A>T
19g.35033738A>CCA405329066SCN1Bc.447A>C (p.Lys149Asn)
c.348A>C (p.Lys116Asn)
c.234A>C (p.Lys78Asn)
n.456A>C
19g.35033738A>GCA507298261SCN1Bc.447A>G (p.Lys149=)
c.348A>G (p.Lys116=)
c.234A>G (p.Lys78=)
n.456A>G
19g.35033738A>TCA405329067SCN1Bc.447A>T (p.Lys149Asn)
c.348A>T (p.Lys116Asn)
c.234A>T (p.Lys78Asn)
n.456A>T
19g.35033738_35033747delinsAGGTGAGTCGCA2333467070SCN1Bc.447_456delinsAGGTGAGTCG (p.Lys149=)
c.447_448+8delinsAGGTGAGTCG
c.348_349+8delinsAGGTGAGTCG
c.348_357delinsAGGTGAGTCG (p.Lys116=)
c.234_235+8delinsAGGTGAGTCG
n.456_457+8delinsAGGTGAGTCG
19g.35033739G>ACA307703699SCN1Bc.448G>A (p.Gly150Ser)
c.448G>A (p.Ala150Thr)
c.349G>A (p.Ala117Thr)
c.349G>A (p.Gly117Ser)
c.349G>A (p.Glu117Lys)
c.235G>A (p.Ala79Thr)
n.457G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033739G>CCA405329068SCN1Bc.448G>C (p.Gly150Arg)
c.448G>C (p.Ala150Pro)
c.349G>C (p.Ala117Pro)
c.349G>C (p.Gly117Arg)
c.349G>C (p.Glu117Gln)
c.235G>C (p.Ala79Pro)
n.457G>C
19g.35033739G=CA2333467071SCN1Bc.448G= (p.Gly150=)
c.448G= (p.Ala150=)
c.349G= (p.Ala117=)
c.349G= (p.Gly117=)
c.349G= (p.Glu117=)
c.235G= (p.Ala79=)
n.457G=
19g.35033739G>TCA307703702SCN1Bc.448G>T (p.Gly150Cys)
c.448G>T (p.Ala150Ser)
c.349G>T (p.Ala117Ser)
c.349G>T (p.Gly117Cys)
c.349G>T (p.Glu117Ter)
c.235G>T (p.Ala79Ser)
n.457G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033743_35033751delCA658799178SCN1Bc.452_460del (p.Glu151_Gly153del)
c.448+4_448+12del
c.349+4_349+12del
c.353_361del (p.Glu118_Gly120del)
c.235+4_235+12del
n.457+4_457+12del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033740G>ACA405329069SCN1Bc.449G>A (p.Gly150Asp)
c.448+1G>A (n.448+1G>A)
c.349+1G>A (n.349+1G>A)
c.350G>A (p.Gly117Asp)
c.235+1G>A (n.235+1G>A)
n.457+1G>A
 ClinVar
19g.35033740G>CCA307703705SCN1Bc.449G>C (p.Gly150Ala)
c.448+1G>C (n.448+1G>C)
c.349+1G>C (n.349+1G>C)
c.350G>C (p.Gly117Ala)
c.235+1G>C (n.235+1G>C)
n.457+1G>C
 dbSNP
19g.35033740G=CA2333467072SCN1Bc.449G= (p.Gly150=)
c.448+1G= (n.448+1G=)
c.349+1G= (n.349+1G=)
c.350G= (p.Gly117=)
c.235+1G= (n.235+1G=)
n.457+1G=
19g.35033740G>TCA405329070SCN1Bc.449G>T (p.Gly150Val)
c.448+1G>T (n.448+1G>T)
c.349+1G>T (n.349+1G>T)
c.350G>T (p.Gly117Val)
c.235+1G>T (n.235+1G>T)
n.457+1G>T
19g.35033741T>ACA405329073SCN1Bc.450T>A (p.Gly150=)
c.448+2T>A (n.448+2T>A)
c.349+2T>A (n.349+2T>A)
c.351T>A (p.Gly117=)
c.235+2T>A (n.235+2T>A)
n.457+2T>A
19g.35033741T>CCA405329072SCN1Bc.450T>C (p.Gly150=)
c.448+2T>C (n.448+2T>C)
c.349+2T>C (n.349+2T>C)
c.351T>C (p.Gly117=)
c.235+2T>C (n.235+2T>C)
n.457+2T>C
19g.35033741T>GCA405329071SCN1Bc.450T>G (p.Gly150=)
c.448+2T>G (n.448+2T>G)
c.349+2T>G (n.349+2T>G)
c.351T>G (p.Gly117=)
c.235+2T>G (n.235+2T>G)
n.457+2T>G
19g.35033742G>ACA405329074SCN1Bc.451G>A (p.Glu151Lys)
c.448+3G>A (n.448+3G>A)
c.349+3G>A (n.349+3G>A)
c.352G>A (p.Glu118Lys)
c.235+3G>A (n.235+3G>A)
n.457+3G>A
19g.35033742G>CCA405329076SCN1Bc.451G>C (p.Glu151Gln)
c.448+3G>C (n.448+3G>C)
c.349+3G>C (n.349+3G>C)
c.352G>C (p.Glu118Gln)
c.235+3G>C (n.235+3G>C)
n.457+3G>C
19g.35033742G>TCA405329075SCN1Bc.451G>T (p.Glu151Ter)
c.448+3G>T (n.448+3G>T)
c.349+3G>T (n.349+3G>T)
c.352G>T (p.Glu118Ter)
c.235+3G>T (n.235+3G>T)
n.457+3G>T
 gnomAD v4
19g.35033743A>CCA405329077SCN1Bc.452A>C (p.Glu151Ala)
c.448+4A>C (n.448+4A>C)
c.349+4A>C (n.349+4A>C)
c.353A>C (p.Glu118Ala)
c.235+4A>C (n.235+4A>C)
n.457+4A>C
19g.35033743A>GCA405329078SCN1Bc.452A>G (p.Glu151Gly)
c.448+4A>G (n.448+4A>G)
c.349+4A>G (n.349+4A>G)
c.353A>G (p.Glu118Gly)
c.235+4A>G (n.235+4A>G)
n.457+4A>G
19g.35033743A>TCA405329079SCN1Bc.452A>T (p.Glu151Val)
c.448+4A>T (n.448+4A>T)
c.349+4A>T (n.349+4A>T)
c.353A>T (p.Glu118Val)
c.235+4A>T (n.235+4A>T)
n.457+4A>T
19g.35033743_35033752delCA2584414237SCN1Bc.452_461del (p.Glu151ValfsTer?)
c.448+4_448+13del (n.448+4_448+13del)
c.349+4_349+13del (n.349+4_349+13del)
c.353_362del (p.Glu118ValfsTer?)
c.235+4_235+13del (n.235+4_235+13del)
n.457+4_457+13del
 gnomAD v4
19g.35033744G>ACA507298270SCN1Bc.453G>A (p.Glu151=)
c.448+5G>A (n.448+5G>A)
c.349+5G>A (n.349+5G>A)
c.354G>A (p.Glu118=)
c.235+5G>A (n.235+5G>A)
n.457+5G>A
19g.35033744G>CCA405329080SCN1Bc.453G>C (p.Glu151Asp)
c.448+5G>C (n.448+5G>C)
c.349+5G>C (n.349+5G>C)
c.354G>C (p.Glu118Asp)
c.235+5G>C (n.235+5G>C)
n.457+5G>C
19g.35033744G>TCA405329081SCN1Bc.453G>T (p.Glu151Asp)
c.448+5G>T (n.448+5G>T)
c.349+5G>T (n.349+5G>T)
c.354G>T (p.Glu118Asp)
c.235+5G>T (n.235+5G>T)
n.457+5G>T
19g.35033745T>ACA405329082SCN1Bc.454T>A (p.Ser152Thr)
c.448+6T>A (n.448+6T>A)
c.349+6T>A (n.349+6T>A)
c.355T>A (p.Ser119Thr)
c.235+6T>A (n.235+6T>A)
n.457+6T>A
19g.35033745T>CCA405329083SCN1Bc.454T>C (p.Ser152Pro)
c.448+6T>C (n.448+6T>C)
c.349+6T>C (n.349+6T>C)
c.355T>C (p.Ser119Pro)
c.235+6T>C (n.235+6T>C)
n.457+6T>C
 COSMIC COSMIC
19g.35033745T>GCA405329084SCN1Bc.454T>G (p.Ser152Ala)
c.448+6T>G (n.448+6T>G)
c.349+6T>G (n.349+6T>G)
c.355T>G (p.Ser119Ala)
c.235+6T>G (n.235+6T>G)
n.457+6T>G
19g.35033746C>ACA405329085SCN1Bc.455C>A (p.Ser152Ter)
c.448+7C>A (n.448+7C>A)
c.349+7C>A (n.349+7C>A)
c.356C>A (p.Ser119Ter)
c.235+7C>A (n.235+7C>A)
n.457+7C>A
 gnomAD v4
19g.35033746C=CA2333467074SCN1Bc.455C= (p.Ser152=)
c.448+7C= (n.448+7C=)
c.349+7C= (n.349+7C=)
c.356C= (p.Ser119=)
c.235+7C= (n.235+7C=)
n.457+7C=
19g.35033746C>GCA405329086SCN1Bc.455C>G (p.Ser152Trp)
c.448+7C>G (n.448+7C>G)
c.349+7C>G (n.349+7C>G)
c.356C>G (p.Ser119Trp)
c.235+7C>G (n.235+7C>G)
n.457+7C>G
 ClinVar dbSNP
19g.35033746C>TCA9372019SCN1Bc.455C>T (p.Ser152Leu)
c.448+7C>T (n.448+7C>T)
c.349+7C>T (n.349+7C>T)
c.356C>T (p.Ser119Leu)
c.235+7C>T (n.235+7C>T)
n.457+7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033746_35033747delinsCGCA2333467073SCN1Bc.455_456delinsCG (p.Ser152=)
c.448+7_448+8delinsCG (n.448+7_448+8delinsCG)
c.349+7_349+8delinsCG (n.349+7_349+8delinsCG)
c.356_357delinsCG (p.Ser119=)
c.235+7_235+8delinsCG (n.235+7_235+8delinsCG)
n.457+7_457+8delinsCG
19g.35033747G>ACA9372020SCN1Bc.456G>A (p.Ser152=)
c.448+8G>A (n.448+8G>A)
c.349+8G>A (n.349+8G>A)
c.357G>A (p.Ser119=)
c.235+8G>A (n.235+8G>A)
n.457+8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033747G>CCA293216SCN1Bc.456G>C (p.Ser152=)
c.448+8G>C (n.448+8G>C)
c.349+8G>C (n.349+8G>C)
c.357G>C (p.Ser119=)
c.235+8G>C (n.235+8G>C)
n.457+8G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033747G=CA2333467076SCN1Bc.456G= (p.Ser152=)
c.448+8G= (n.448+8G=)
c.349+8G= (n.349+8G=)
c.357G= (p.Ser119=)
c.235+8G= (n.235+8G=)
n.457+8G=
19g.35033747G>TCA507298273SCN1Bc.456G>T (p.Ser152=)
c.448+8G>T (n.448+8G>T)
c.349+8G>T (n.349+8G>T)
c.357G>T (p.Ser119=)
c.235+8G>T (n.235+8G>T)
n.457+8G>T
 ClinVar dbSNP gnomAD v4
19g.35033749delCA2333467075SCN1Bc.458del (p.Gly153ValfsTer?)
c.448+10del (n.448+10del)
c.349+10del (n.349+10del)
c.359del (p.Gly120ValfsTer?)
c.235+10del (n.235+10del)
n.457+10del
 ClinVar dbSNP
19g.35033748G>ACA405329089SCN1Bc.457G>A (p.Gly153Ser)
c.448+9G>A (n.448+9G>A)
c.349+9G>A (n.349+9G>A)
c.358G>A (p.Gly120Ser)
c.235+9G>A (n.235+9G>A)
n.457+9G>A
19g.35033748G>CCA405329088SCN1Bc.457G>C (p.Gly153Arg)
c.448+9G>C (n.448+9G>C)
c.349+9G>C (n.349+9G>C)
c.358G>C (p.Gly120Arg)
c.235+9G>C (n.235+9G>C)
n.457+9G>C
19g.35033748G>TCA405329087SCN1Bc.457G>T (p.Gly153Cys)
c.448+9G>T (n.448+9G>T)
c.349+9G>T (n.349+9G>T)
c.358G>T (p.Gly120Cys)
c.235+9G>T (n.235+9G>T)
n.457+9G>T
19g.35033749G>ACA307703713SCN1Bc.458G>A (p.Gly153Asp)
c.448+10G>A (n.448+10G>A)
c.349+10G>A (n.349+10G>A)
c.359G>A (p.Gly120Asp)
c.235+10G>A (n.235+10G>A)
n.457+10G>A
 dbSNP
19g.35033749G>CCA405329090SCN1Bc.458G>C (p.Gly153Ala)
c.448+10G>C (n.448+10G>C)
c.349+10G>C (n.349+10G>C)
c.359G>C (p.Gly120Ala)
c.235+10G>C (n.235+10G>C)
n.457+10G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35033749G=CA2333467077SCN1Bc.458G= (p.Gly153=)
c.448+10G= (n.448+10G=)
c.349+10G= (n.349+10G=)
c.359G= (p.Gly120=)
c.235+10G= (n.235+10G=)
n.457+10G=
19g.35033749G>TCA405329091SCN1Bc.458G>T (p.Gly153Val)
c.448+10G>T (n.448+10G>T)
c.349+10G>T (n.349+10G>T)
c.359G>T (p.Gly120Val)
c.235+10G>T (n.235+10G>T)
n.457+10G>T
 dbSNP gnomAD v2 gnomAD v4
19g.35033750T>ACA507298277SCN1Bc.459T>A (p.Gly153=)
c.448+11T>A (n.448+11T>A)
c.349+11T>A (n.349+11T>A)
c.360T>A (p.Gly120=)
c.235+11T>A (n.235+11T>A)
n.457+11T>A
19g.35033750T>CCA9372021SCN1Bc.459T>C (p.Gly153=)
c.448+11T>C (n.448+11T>C)
c.349+11T>C (n.349+11T>C)
c.360T>C (p.Gly120=)
c.235+11T>C (n.235+11T>C)
n.457+11T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35033750T>GCA507298279SCN1Bc.459T>G (p.Gly153=)
c.448+11T>G (n.448+11T>G)
c.349+11T>G (n.349+11T>G)
c.360T>G (p.Gly120=)
c.235+11T>G (n.235+11T>G)
n.457+11T>G
19g.35033750T=CA2333467078SCN1Bc.459T= (p.Gly153=)
c.448+11T= (n.448+11T=)
c.349+11T= (n.349+11T=)
c.360T= (p.Gly120=)
c.235+11T= (n.235+11T=)
n.457+11T=
19g.35033751G>ACA405329092SCN1Bc.460G>A (p.Ala154Thr)
c.448+12G>A (n.448+12G>A)
c.349+12G>A (n.349+12G>A)
c.361G>A (p.Ala121Thr)
c.235+12G>A (n.235+12G>A)
n.457+12G>A
 gnomAD v4
19g.35033751G>CCA405329093SCN1Bc.460G>C (p.Ala154Pro)
c.448+12G>C (n.448+12G>C)
c.349+12G>C (n.349+12G>C)
c.361G>C (p.Ala121Pro)
c.235+12G>C (n.235+12G>C)
n.457+12G>C
19g.35033751G>TCA405329094SCN1Bc.460G>T (p.Ala154Ser)
c.448+12G>T (n.448+12G>T)
c.349+12G>T (n.349+12G>T)
c.361G>T (p.Ala121Ser)
c.235+12G>T (n.235+12G>T)
n.457+12G>T
19g.35033752C>ACA405329095SCN1Bc.461C>A (p.Ala154Asp)
c.448+13C>A (n.448+13C>A)
c.349+13C>A (n.349+13C>A)
c.362C>A (p.Ala121Asp)
c.235+13C>A (n.235+13C>A)
n.457+13C>A
19g.35033752C>GCA405329096SCN1Bc.461C>G (p.Ala154Gly)
c.448+13C>G (n.448+13C>G)
c.349+13C>G (n.349+13C>G)
c.362C>G (p.Ala121Gly)
c.235+13C>G (n.235+13C>G)
n.457+13C>G
19g.35033752C>TCA405329097SCN1Bc.461C>T (p.Ala154Val)
c.448+13C>T (n.448+13C>T)
c.349+13C>T (n.349+13C>T)
c.362C>T (p.Ala121Val)
c.235+13C>T (n.235+13C>T)
n.457+13C>T
 COSMIC
19g.35033753T>ACA507298283SCN1Bc.462T>A (p.Ala154=)
c.448+14T>A (n.448+14T>A)
c.349+14T>A (n.349+14T>A)
c.363T>A (p.Ala121=)
c.235+14T>A (n.235+14T>A)
n.457+14T>A
19g.35033753T>CCA507298284SCN1Bc.462T>C (p.Ala154=)
c.448+14T>C (n.448+14T>C)
c.349+14T>C (n.349+14T>C)
c.363T>C (p.Ala121=)
c.235+14T>C (n.235+14T>C)
n.457+14T>C
19g.35033753T>GCA507298285SCN1Bc.462T>G (p.Ala154=)
c.448+14T>G (n.448+14T>G)
c.349+14T>G (n.349+14T>G)
c.363T>G (p.Ala121=)
c.235+14T>G (n.235+14T>G)
n.457+14T>G
19g.35033754G>ACA405329098SCN1Bc.463G>A (p.Ala155Thr)
c.448+15G>A (n.448+15G>A)
c.349+15G>A (n.349+15G>A)
c.364G>A (p.Ala122Thr)
c.235+15G>A (n.235+15G>A)
n.457+15G>A
 dbSNP gnomAD v3 gnomAD v4
19g.35033754G>CCA405329099SCN1Bc.463G>C (p.Ala155Pro)
c.448+15G>C (n.448+15G>C)
c.349+15G>C (n.349+15G>C)
c.364G>C (p.Ala122Pro)
c.235+15G>C (n.235+15G>C)
n.457+15G>C
19g.35033754G=CA2333467079SCN1Bc.463G= (p.Ala155=)
c.448+15G= (n.448+15G=)
c.349+15G= (n.349+15G=)
c.364G= (p.Ala122=)
c.235+15G= (n.235+15G=)
n.457+15G=
19g.35033754G>TCA405329100SCN1Bc.463G>T (p.Ala155Ser)
c.448+15G>T (n.448+15G>T)
c.349+15G>T (n.349+15G>T)
c.364G>T (p.Ala122Ser)
c.235+15G>T (n.235+15G>T)
n.457+15G>T
19g.35033755C>ACA405329102SCN1Bc.464C>A (p.Ala155Asp)
c.448+16C>A (n.448+16C>A)
c.349+16C>A (n.349+16C>A)
c.365C>A (p.Ala122Asp)
c.235+16C>A (n.235+16C>A)
n.457+16C>A
19g.35033755C>GCA405329103SCN1Bc.464C>G (p.Ala155Gly)
c.448+16C>G (n.448+16C>G)
c.349+16C>G (n.349+16C>G)
c.365C>G (p.Ala122Gly)
c.235+16C>G (n.235+16C>G)
n.457+16C>G
19g.35033755C>TCA405329101SCN1Bc.464C>T (p.Ala155Val)
c.448+16C>T (n.448+16C>T)
c.349+16C>T (n.349+16C>T)
c.365C>T (p.Ala122Val)
c.235+16C>T (n.235+16C>T)
n.457+16C>T
 gnomAD v4
19g.35033756C>ACA507298289SCN1Bc.465C>A (p.Ala155=)
c.448+17C>A (n.448+17C>A)
c.349+17C>A (n.349+17C>A)
c.366C>A (p.Ala122=)
c.235+17C>A (n.235+17C>A)
n.457+17C>A
19g.35033756C>GCA507298290SCN1Bc.465C>G (p.Ala155=)
c.448+17C>G (n.448+17C>G)
c.349+17C>G (n.349+17C>G)
c.366C>G (p.Ala122=)
c.235+17C>G (n.235+17C>G)
n.457+17C>G
19g.35033756C>TCA507298291SCN1Bc.465C>T (p.Ala155=)
c.448+17C>T (n.448+17C>T)
c.349+17C>T (n.349+17C>T)
c.366C>T (p.Ala122=)
c.235+17C>T (n.235+17C>T)
n.457+17C>T
 ClinVar gnomAD v4
19g.35033757T>ACA405329104SCN1Bc.466T>A (p.Cys156Ser)
c.448+18T>A (n.448+18T>A)
c.349+18T>A (n.349+18T>A)
c.367T>A (p.Cys123Ser)
c.235+18T>A (n.235+18T>A)
n.457+18T>A
19g.35033757T>CCA405329105SCN1Bc.466T>C (p.Cys156Arg)
c.448+18T>C (n.448+18T>C)
c.349+18T>C (n.349+18T>C)
c.367T>C (p.Cys123Arg)
c.235+18T>C (n.235+18T>C)
n.457+18T>C
 ClinVar dbSNP
19g.35033757T>GCA405329106SCN1Bc.466T>G (p.Cys156Gly)
c.448+18T>G (n.448+18T>G)
c.349+18T>G (n.349+18T>G)
c.367T>G (p.Cys123Gly)
c.235+18T>G (n.235+18T>G)
n.457+18T>G
19g.35033757T=CA2333467080SCN1Bc.466T= (p.Cys156=)
c.448+18T= (n.448+18T=)
c.349+18T= (n.349+18T=)
c.367T= (p.Cys123=)
c.235+18T= (n.235+18T=)
n.457+18T=
19g.35033758G>ACA307703716SCN1Bc.467G>A (p.Cys156Tyr)
c.448+19G>A (n.448+19G>A)
c.349+19G>A (n.349+19G>A)
c.368G>A (p.Cys123Tyr)
c.235+19G>A (n.235+19G>A)
n.457+19G>A
 dbSNP gnomAD v3 gnomAD v4
19g.35033758G>CCA405329107SCN1Bc.467G>C (p.Cys156Ser)
c.448+19G>C (n.448+19G>C)
c.349+19G>C (n.349+19G>C)
c.368G>C (p.Cys123Ser)
c.235+19G>C (n.235+19G>C)
n.457+19G>C
19g.35033758G=CA2333467081SCN1Bc.467G= (p.Cys156=)
c.448+19G= (n.448+19G=)
c.349+19G= (n.349+19G=)
c.368G= (p.Cys123=)
c.235+19G= (n.235+19G=)
n.457+19G=
19g.35033758G>TCA405329108SCN1Bc.467G>T (p.Cys156Phe)
c.448+19G>T (n.448+19G>T)
c.349+19G>T (n.349+19G>T)
c.368G>T (p.Cys123Phe)
c.235+19G>T (n.235+19G>T)
n.457+19G>T
19g.35033759C>ACA405329109SCN1Bc.468C>A (p.Cys156Ter)
c.448+20C>A (n.448+20C>A)
c.349+20C>A (n.349+20C>A)
c.369C>A (p.Cys123Ter)
c.235+20C>A (n.235+20C>A)
n.457+20C>A
19g.35033759C=CA2333467083SCN1Bc.468C= (p.Cys156=)
c.448+20C= (n.448+20C=)
c.349+20C= (n.349+20C=)
c.369C= (p.Cys123=)
c.235+20C= (n.235+20C=)
n.457+20C=
19g.35033759C>GCA405329110SCN1Bc.468C>G (p.Cys156Trp)
c.448+20C>G (n.448+20C>G)
c.349+20C>G (n.349+20C>G)
c.369C>G (p.Cys123Trp)
c.235+20C>G (n.235+20C>G)
n.457+20C>G
19g.35033759C>TCA507298296SCN1Bc.468C>T (p.Cys156=)
c.448+20C>T (n.448+20C>T)
c.349+20C>T (n.349+20C>T)
c.369C>T (p.Cys123=)
c.235+20C>T (n.235+20C>T)
n.457+20C>T
 dbSNP
19g.35033762dupCA2333467082SCN1Bc.471dup (p.Phe158LeufsTer?)
c.448+23dup (n.448+23dup)
c.349+23dup (n.349+23dup)
c.372dup (p.Phe125LeufsTer?)
c.235+23dup (n.235+23dup)
n.457+23dup
 dbSNP gnomAD v4
19g.35033760C>ACA405329111SCN1Bc.469C>A (p.Pro157Thr)
c.448+21C>A (n.448+21C>A)
c.349+21C>A (n.349+21C>A)
c.370C>A (p.Pro124Thr)
c.235+21C>A (n.235+21C>A)
n.457+21C>A
19g.35033760C>GCA405329112SCN1Bc.469C>G (p.Pro157Ala)
c.448+21C>G (n.448+21C>G)
c.349+21C>G (n.349+21C>G)
c.370C>G (p.Pro124Ala)
c.235+21C>G (n.235+21C>G)
n.457+21C>G
19g.35033760C>TCA405329113SCN1Bc.469C>T (p.Pro157Ser)
c.448+21C>T (n.448+21C>T)
c.349+21C>T (n.349+21C>T)
c.370C>T (p.Pro124Ser)
c.235+21C>T (n.235+21C>T)
n.457+21C>T
19g.35033761C>ACA405329116SCN1Bc.470C>A (p.Pro157His)
c.448+22C>A (n.448+22C>A)
c.349+22C>A (n.349+22C>A)
c.371C>A (p.Pro124His)
c.235+22C>A (n.235+22C>A)
n.457+22C>A
19g.35033761C>GCA405329115SCN1Bc.470C>G (p.Pro157Arg)
c.448+22C>G (n.448+22C>G)
c.349+22C>G (n.349+22C>G)
c.371C>G (p.Pro124Arg)
c.235+22C>G (n.235+22C>G)
n.457+22C>G
19g.35033761C>TCA405329114SCN1Bc.470C>T (p.Pro157Leu)
c.448+22C>T (n.448+22C>T)
c.349+22C>T (n.349+22C>T)
c.371C>T (p.Pro124Leu)
c.235+22C>T (n.235+22C>T)
n.457+22C>T
 gnomAD v4
19g.35033762C>ACA507298302SCN1Bc.471C>A (p.Pro157=)
c.448+23C>A (n.448+23C>A)
c.349+23C>A (n.349+23C>A)
c.372C>A (p.Pro124=)
c.235+23C>A (n.235+23C>A)
n.457+23C>A
19g.35033762C>GCA507298303SCN1Bc.471C>G (p.Pro157=)
c.448+23C>G (n.448+23C>G)
c.349+23C>G (n.349+23C>G)
c.372C>G (p.Pro124=)
c.235+23C>G (n.235+23C>G)
n.457+23C>G
19g.35033762C>TCA507298305SCN1Bc.471C>T (p.Pro157=)
c.448+23C>T (n.448+23C>T)
c.349+23C>T (n.349+23C>T)
c.372C>T (p.Pro124=)
c.235+23C>T (n.235+23C>T)
n.457+23C>T
19g.35033763T>ACA405329117SCN1Bc.472T>A (p.Phe158Ile)
c.448+24T>A (n.448+24T>A)
c.349+24T>A (n.349+24T>A)
c.373T>A (p.Phe125Ile)
c.235+24T>A (n.235+24T>A)
n.457+24T>A
 gnomAD v4
19g.35033763T>CCA405329118SCN1Bc.472T>C (p.Phe158Leu)
c.448+24T>C (n.448+24T>C)
c.349+24T>C (n.349+24T>C)
c.373T>C (p.Phe125Leu)
c.235+24T>C (n.235+24T>C)
n.457+24T>C
19g.35033763T>GCA405329119SCN1Bc.472T>G (p.Phe158Val)
c.448+24T>G (n.448+24T>G)
c.349+24T>G (n.349+24T>G)
c.373T>G (p.Phe125Val)
c.235+24T>G (n.235+24T>G)
n.457+24T>G
19g.35033764T>ACA405329120SCN1Bc.473T>A (p.Phe158Tyr)
c.448+25T>A (n.448+25T>A)
c.349+25T>A (n.349+25T>A)
c.374T>A (p.Phe125Tyr)
c.235+25T>A (n.235+25T>A)
n.457+25T>A
19g.35033764T>CCA405329121SCN1Bc.473T>C (p.Phe158Ser)
c.448+25T>C (n.448+25T>C)
c.349+25T>C (n.349+25T>C)
c.374T>C (p.Phe125Ser)
c.235+25T>C (n.235+25T>C)
n.457+25T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.35033764T>GCA405329122SCN1Bc.473T>G (p.Phe158Cys)
c.448+25T>G (n.448+25T>G)
c.349+25T>G (n.349+25T>G)
c.374T>G (p.Phe125Cys)
c.235+25T>G (n.235+25T>G)
n.457+25T>G
19g.35033764T=CA2333467084SCN1Bc.473T= (p.Phe158=)
c.448+25T= (n.448+25T=)
c.349+25T= (n.349+25T=)
c.374T= (p.Phe125=)
c.235+25T= (n.235+25T=)
n.457+25T=
19g.35033765T>ACA405329123SCN1Bc.474T>A (p.Phe158Leu)
c.448+26T>A (n.448+26T>A)
c.349+26T>A (n.349+26T>A)
c.375T>A (p.Phe125Leu)
c.235+26T>A (n.235+26T>A)
n.457+26T>A
19g.35033765T>CCA507298312SCN1Bc.474T>C (p.Phe158=)
c.448+26T>C (n.448+26T>C)
c.349+26T>C (n.349+26T>C)
c.375T>C (p.Phe125=)
c.235+26T>C (n.235+26T>C)
n.457+26T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35033765T>GCA405329124SCN1Bc.474T>G (p.Phe158Leu)
c.448+26T>G (n.448+26T>G)
c.349+26T>G (n.349+26T>G)
c.375T>G (p.Phe125Leu)
c.235+26T>G (n.235+26T>G)
n.457+26T>G
19g.35033765T=CA2333467085SCN1Bc.474T= (p.Phe158=)
c.448+26T= (n.448+26T=)
c.349+26T= (n.349+26T=)
c.375T= (p.Phe125=)
c.235+26T= (n.235+26T=)
n.457+26T=
19g.35033766A>CCA405329125SCN1Bc.475A>C (p.Thr159Pro)
c.448+27A>C (n.448+27A>C)
c.349+27A>C (n.349+27A>C)
c.376A>C (p.Thr126Pro)
c.235+27A>C (n.235+27A>C)
n.457+27A>C
19g.35033766A>GCA405329126SCN1Bc.475A>G (p.Thr159Ala)
c.448+27A>G (n.448+27A>G)
c.349+27A>G (n.349+27A>G)
c.376A>G (p.Thr126Ala)
c.235+27A>G (n.235+27A>G)
n.457+27A>G
19g.35033766A>TCA405329127SCN1Bc.475A>T (p.Thr159Ser)
c.448+27A>T (n.448+27A>T)
c.349+27A>T (n.349+27A>T)
c.376A>T (p.Thr126Ser)
c.235+27A>T (n.235+27A>T)
n.457+27A>T
19g.35033767C>ACA405329130SCN1Bc.476C>A (p.Thr159Asn)
c.448+28C>A (n.448+28C>A)
c.349+28C>A (n.349+28C>A)
c.377C>A (p.Thr126Asn)
c.235+28C>A (n.235+28C>A)
n.457+28C>A
19g.35033767C>GCA405329129SCN1Bc.476C>G (p.Thr159Ser)
c.448+28C>G (n.448+28C>G)
c.349+28C>G (n.349+28C>G)
c.377C>G (p.Thr126Ser)
c.235+28C>G (n.235+28C>G)
n.457+28C>G
19g.35033767C>TCA405329128SCN1Bc.476C>T (p.Thr159Ile)
c.448+28C>T (n.448+28C>T)
c.349+28C>T (n.349+28C>T)
c.377C>T (p.Thr126Ile)
c.235+28C>T (n.235+28C>T)
n.457+28C>T
 dbSNP
19g.35033768C>ACA507298316SCN1Bc.477C>A (p.Thr159=)
c.448+29C>A (n.448+29C>A)
c.349+29C>A (n.349+29C>A)
c.378C>A (p.Thr126=)
c.235+29C>A (n.235+29C>A)
n.457+29C>A
19g.35033768C=CA2333467086SCN1Bc.477C= (p.Thr159=)
c.448+29C= (n.448+29C=)
c.349+29C= (n.349+29C=)
c.378C= (p.Thr126=)
c.235+29C= (n.235+29C=)
n.457+29C=
19g.35033768C>GCA507298320SCN1Bc.477C>G (p.Thr159=)
c.448+29C>G (n.448+29C>G)
c.349+29C>G (n.349+29C>G)
c.378C>G (p.Thr126=)
c.235+29C>G (n.235+29C>G)
n.457+29C>G
19g.35033768C>TCA293218SCN1Bc.477C>T (p.Thr159=)
c.448+29C>T (n.448+29C>T)
c.349+29C>T (n.349+29C>T)
c.378C>T (p.Thr126=)
c.235+29C>T (n.235+29C>T)
n.457+29C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033769G>ACA9372022SCN1Bc.478G>A (p.Val160Ile)
c.448+30G>A (n.448+30G>A)
c.349+30G>A (n.349+30G>A)
c.379G>A (p.Val127Ile)
c.235+30G>A (n.235+30G>A)
n.457+30G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.35033769G>CCA405329131SCN1Bc.478G>C (p.Val160Leu)
c.448+30G>C (n.448+30G>C)
c.349+30G>C (n.349+30G>C)
c.379G>C (p.Val127Leu)
c.235+30G>C (n.235+30G>C)
n.457+30G>C
19g.35033769G=CA2333467087SCN1Bc.478G= (p.Val160=)
c.448+30G= (n.448+30G=)
c.349+30G= (n.349+30G=)
c.379G= (p.Val127=)
c.235+30G= (n.235+30G=)
n.457+30G=
19g.35033769G>TCA405329132SCN1Bc.478G>T (p.Val160Phe)
c.448+30G>T (n.448+30G>T)
c.349+30G>T (n.349+30G>T)
c.379G>T (p.Val127Phe)
c.235+30G>T (n.235+30G>T)
n.457+30G>T
19g.35033770T>ACA405329133SCN1Bc.479T>A (p.Val160Asp)
c.448+31T>A (n.448+31T>A)
c.349+31T>A (n.349+31T>A)
c.380T>A (p.Val127Asp)
c.235+31T>A (n.235+31T>A)
n.457+31T>A
19g.35033770T>CCA307703723SCN1Bc.479T>C (p.Val160Ala)
c.448+31T>C (n.448+31T>C)
c.349+31T>C (n.349+31T>C)
c.380T>C (p.Val127Ala)
c.235+31T>C (n.235+31T>C)
n.457+31T>C
 dbSNP
19g.35033770T>GCA405329134SCN1Bc.479T>G (p.Val160Gly)
c.448+31T>G (n.448+31T>G)
c.349+31T>G (n.349+31T>G)
c.380T>G (p.Val127Gly)
c.235+31T>G (n.235+31T>G)
n.457+31T>G
19g.35033770T=CA2333467088SCN1Bc.479T= (p.Val160=)
c.448+31T= (n.448+31T=)
c.349+31T= (n.349+31T=)
c.380T= (p.Val127=)
c.235+31T= (n.235+31T=)
n.457+31T=
19g.35033771C>ACA507298325SCN1Bc.480C>A (p.Val160=)
c.448+32C>A (n.448+32C>A)
c.349+32C>A (n.349+32C>A)
c.381C>A (p.Val127=)
c.235+32C>A (n.235+32C>A)
n.457+32C>A
19g.35033771C>GCA507298326SCN1Bc.480C>G (p.Val160=)
c.448+32C>G (n.448+32C>G)
c.349+32C>G (n.349+32C>G)
c.381C>G (p.Val127=)
c.235+32C>G (n.235+32C>G)
n.457+32C>G
19g.35033771C>TCA507298327SCN1Bc.480C>T (p.Val160=)
c.448+32C>T (n.448+32C>T)
c.349+32C>T (n.349+32C>T)
c.381C>T (p.Val127=)
c.235+32C>T (n.235+32C>T)
n.457+32C>T
19g.35033772A>CCA405329137SCN1Bc.481A>C (p.Thr161Pro)
c.448+33A>C (n.448+33A>C)
c.349+33A>C (n.349+33A>C)
c.382A>C (p.Thr128Pro)
c.235+33A>C (n.235+33A>C)
n.457+33A>C
19g.35033772A>GCA405329136SCN1Bc.481A>G (p.Thr161Ala)
c.448+33A>G (n.448+33A>G)
c.349+33A>G (n.349+33A>G)
c.382A>G (p.Thr128Ala)
c.235+33A>G (n.235+33A>G)
n.457+33A>G
19g.35033772A>TCA405329135SCN1Bc.481A>T (p.Thr161Ser)
c.448+33A>T (n.448+33A>T)
c.349+33A>T (n.349+33A>T)
c.382A>T (p.Thr128Ser)
c.235+33A>T (n.235+33A>T)
n.457+33A>T
19g.35033773C>ACA405329138SCN1Bc.482C>A (p.Thr161Asn)
c.448+34C>A (n.448+34C>A)
c.349+34C>A (n.349+34C>A)
c.383C>A (p.Thr128Asn)
c.235+34C>A (n.235+34C>A)
n.457+34C>A
19g.35033773C>GCA405329139SCN1Bc.482C>G (p.Thr161Ser)
c.448+34C>G (n.448+34C>G)
c.349+34C>G (n.349+34C>G)
c.383C>G (p.Thr128Ser)
c.235+34C>G (n.235+34C>G)
n.457+34C>G
19g.35033773C>TCA405329140SCN1Bc.482C>T (p.Thr161Ile)
c.448+34C>T (n.448+34C>T)
c.349+34C>T (n.349+34C>T)
c.383C>T (p.Thr128Ile)
c.235+34C>T (n.235+34C>T)
n.457+34C>T
 gnomAD v4
19g.35033774C>ACA507298334SCN1Bc.483C>A (p.Thr161=)
c.448+35C>A (n.448+35C>A)
c.349+35C>A (n.349+35C>A)
c.384C>A (p.Thr128=)
c.235+35C>A (n.235+35C>A)
n.457+35C>A
19g.35033774C>GCA507298335SCN1Bc.483C>G (p.Thr161=)
c.448+35C>G (n.448+35C>G)
c.349+35C>G (n.349+35C>G)
c.384C>G (p.Thr128=)
c.235+35C>G (n.235+35C>G)
n.457+35C>G
19g.35033774C>TCA507298338SCN1Bc.483C>T (p.Thr161=)
c.448+35C>T (n.448+35C>T)
c.349+35C>T (n.349+35C>T)
c.384C>T (p.Thr128=)
c.235+35C>T (n.235+35C>T)
n.457+35C>T
 COSMIC
19g.35033775C>ACA405329141SCN1Bc.484C>A (p.His162Asn)
c.448+36C>A (n.448+36C>A)
c.349+36C>A (n.349+36C>A)
c.385C>A (p.His129Asn)
c.235+36C>A (n.235+36C>A)
n.457+36C>A
19g.35033775C=CA2333467089SCN1Bc.484C= (p.His162=)
c.448+36C= (n.448+36C=)
c.349+36C= (n.349+36C=)
c.385C= (p.His129=)
c.235+36C= (n.235+36C=)
n.457+36C=
19g.35033775C>GCA405329142SCN1Bc.484C>G (p.His162Asp)
c.448+36C>G (n.448+36C>G)
c.349+36C>G (n.349+36C>G)
c.385C>G (p.His129Asp)
c.235+36C>G (n.235+36C>G)
n.457+36C>G
19g.35033775C>TCA307703726SCN1Bc.484C>T (p.His162Tyr)
c.448+36C>T (n.448+36C>T)
c.349+36C>T (n.349+36C>T)
c.385C>T (p.His129Tyr)
c.235+36C>T (n.235+36C>T)
n.457+36C>T
 ClinVar dbSNP gnomAD v4
19g.35033776A=CA2333467090SCN1Bc.485A= (p.His162=)
c.448+37A= (n.448+37A=)
c.349+37A= (n.349+37A=)
c.386A= (p.His129=)
c.235+37A= (n.235+37A=)
n.457+37A=
19g.35033776A>CCA405329143SCN1Bc.485A>C (p.His162Pro)
c.448+37A>C (n.448+37A>C)
c.349+37A>C (n.349+37A>C)
c.386A>C (p.His129Pro)
c.235+37A>C (n.235+37A>C)
n.457+37A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35033776A>GCA405329145SCN1Bc.485A>G (p.His162Arg)
c.448+37A>G (n.448+37A>G)
c.349+37A>G (n.349+37A>G)
c.386A>G (p.His129Arg)
c.235+37A>G (n.235+37A>G)
n.457+37A>G
 dbSNP gnomAD v3 gnomAD v4
19g.35033776A>TCA405329144SCN1Bc.485A>T (p.His162Leu)
c.448+37A>T (n.448+37A>T)
c.349+37A>T (n.349+37A>T)
c.386A>T (p.His129Leu)
c.235+37A>T (n.235+37A>T)
n.457+37A>T

Number of alleles fetched