Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35033659T>ACA405328882SCN1Bc.368T>A (p.Val123Asp)
c.269T>A (p.Val90Asp)
c.208-53T>A (n.208-53T>A)
n.377T>A
19g.35033659T>CCA405328883SCN1Bc.368T>C (p.Val123Ala)
c.269T>C (p.Val90Ala)
c.208-53T>C (n.208-53T>C)
n.377T>C
 COSMIC COSMIC
19g.35033659T>GCA405328884SCN1Bc.368T>G (p.Val123Gly)
c.269T>G (p.Val90Gly)
c.208-53T>G (n.208-53T>G)
n.377T>G
19g.35033660C>ACA507298128SCN1Bc.369C>A (p.Val123=)
c.270C>A (p.Val90=)
c.208-52C>A (n.208-52C>A)
n.378C>A
 dbSNP gnomAD v3 gnomAD v4
19g.35033660C=CA2333467037SCN1Bc.369C= (p.Val123=)
c.270C= (p.Val90=)
c.208-52C= (n.208-52C=)
n.378C=
19g.35033660C>GCA507298129SCN1Bc.369C>G (p.Val123=)
c.270C>G (p.Val90=)
c.208-52C>G (n.208-52C>G)
n.378C>G
19g.35033660C>TCA507298130SCN1Bc.369C>T (p.Val123=)
c.270C>T (p.Val90=)
c.208-52C>T (n.208-52C>T)
n.378C>T
 gnomAD v4
19g.35033661T>ACA405328885SCN1Bc.370T>A (p.Tyr124Asn)
c.271T>A (p.Tyr91Asn)
c.208-51T>A (n.208-51T>A)
n.379T>A
19g.35033661T>CCA405328886SCN1Bc.370T>C (p.Tyr124His)
c.271T>C (p.Tyr91His)
c.208-51T>C (n.208-51T>C)
n.379T>C
19g.35033661T>GCA405328887SCN1Bc.370T>G (p.Tyr124Asp)
c.271T>G (p.Tyr91Asp)
c.208-51T>G (n.208-51T>G)
n.379T>G
19g.35033662A>CCA405328889SCN1Bc.371A>C (p.Tyr124Ser)
c.272A>C (p.Tyr91Ser)
c.208-50A>C (n.208-50A>C)
n.380A>C
19g.35033662A>GCA405328890SCN1Bc.371A>G (p.Tyr124Cys)
c.272A>G (p.Tyr91Cys)
c.208-50A>G (n.208-50A>G)
n.380A>G
19g.35033662A>TCA405328888SCN1Bc.371A>T (p.Tyr124Phe)
c.272A>T (p.Tyr91Phe)
c.208-50A>T (n.208-50A>T)
n.380A>T
19g.35033663C>ACA405328892SCN1Bc.372C>A (p.Tyr124Ter)
c.273C>A (p.Tyr91Ter)
c.208-49C>A (n.208-49C>A)
n.381C>A
19g.35033663C>GCA405328891SCN1Bc.372C>G (p.Tyr124Ter)
c.273C>G (p.Tyr91Ter)
c.208-49C>G (n.208-49C>G)
n.381C>G
19g.35033663C>TCA507298134SCN1Bc.372C>T (p.Tyr124=)
c.273C>T (p.Tyr91=)
c.208-49C>T (n.208-49C>T)
n.381C>T
 gnomAD v4
19g.35033664C>ACA405328893SCN1Bc.373C>A (p.Arg125Ser)
c.274C>A (p.Arg92Ser)
c.208-48C>A (n.208-48C>A)
n.382C>A
19g.35033664C=CA2333467038SCN1Bc.373C= (p.Arg125=)
c.274C= (p.Arg92=)
c.208-48C= (n.208-48C=)
n.382C=
19g.35033664C>GCA405328894SCN1Bc.373C>G (p.Arg125Gly)
c.274C>G (p.Arg92Gly)
c.208-48C>G (n.208-48C>G)
n.382C>G
 gnomAD v4
19g.35033664C>TCA405328895SCN1Bc.373C>T (p.Arg125Cys)
c.274C>T (p.Arg92Cys)
c.208-48C>T (n.208-48C>T)
n.382C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35033665G>ACA302194SCN1Bc.374G>A (p.Arg125His)
c.275G>A (p.Arg92His)
c.208-47G>A (n.208-47G>A)
n.383G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35033665G>CCA405328896SCN1Bc.374G>C (p.Arg125Pro)
c.275G>C (p.Arg92Pro)
c.208-47G>C (n.208-47G>C)
n.383G>C
19g.35033665G=CA2333467039SCN1Bc.374G= (p.Arg125=)
c.275G= (p.Arg92=)
c.208-47G= (n.208-47G=)
n.383G=
19g.35033665G>TCA405328897SCN1Bc.374G>T (p.Arg125Leu)
c.275G>T (p.Arg92Leu)
c.208-47G>T (n.208-47G>T)
n.383G>T
 ClinVar dbSNP
19g.35033666C>ACA507298135SCN1Bc.375C>A (p.Arg125=)
c.276C>A (p.Arg92=)
c.208-46C>A (n.208-46C>A)
n.384C>A
19g.35033666C>GCA507298136SCN1Bc.375C>G (p.Arg125=)
c.276C>G (p.Arg92=)
c.208-46C>G (n.208-46C>G)
n.384C>G
19g.35033666C>TCA507298137SCN1Bc.375C>T (p.Arg125=)
c.276C>T (p.Arg92=)
c.208-46C>T (n.208-46C>T)
n.384C>T
19g.35033667C>ACA405328898SCN1Bc.376C>A (p.Leu126Met)
c.277C>A (p.Leu93Met)
c.208-45C>A (n.208-45C>A)
n.385C>A
 gnomAD v4
19g.35033667C>GCA405328899SCN1Bc.376C>G (p.Leu126Val)
c.277C>G (p.Leu93Val)
c.208-45C>G (n.208-45C>G)
n.385C>G
19g.35033667C>TCA507298138SCN1Bc.376C>T (p.Leu126=)
c.277C>T (p.Leu93=)
c.208-45C>T (n.208-45C>T)
n.385C>T
19g.35033668T>ACA405328900SCN1Bc.377T>A (p.Leu126Gln)
c.278T>A (p.Leu93Gln)
c.208-44T>A (n.208-44T>A)
n.386T>A
19g.35033668T>CCA405328901SCN1Bc.377T>C (p.Leu126Pro)
c.278T>C (p.Leu93Pro)
c.208-44T>C (n.208-44T>C)
n.386T>C
19g.35033668T>GCA405328902SCN1Bc.377T>G (p.Leu126Arg)
c.278T>G (p.Leu93Arg)
c.208-44T>G (n.208-44T>G)
n.386T>G
19g.35033669G>ACA507298140SCN1Bc.378G>A (p.Leu126=)
c.279G>A (p.Leu93=)
c.208-43G>A (n.208-43G>A)
n.387G>A
 ClinVar
19g.35033669G>CCA507298142SCN1Bc.378G>C (p.Leu126=)
c.279G>C (p.Leu93=)
c.208-43G>C (n.208-43G>C)
n.387G>C
19g.35033669G>TCA507298144SCN1Bc.378G>T (p.Leu126=)
c.279G>T (p.Leu93=)
c.208-43G>T (n.208-43G>T)
n.387G>T
19g.35033670C>ACA405328905SCN1Bc.379C>A (p.Leu127Ile)
c.280C>A (p.Leu94Ile)
c.208-42C>A (n.208-42C>A)
n.388C>A
19g.35033670C=CA2333467041SCN1Bc.379C= (p.Leu127=)
c.280C= (p.Leu94=)
c.208-42C= (n.208-42C=)
n.388C=
19g.35033670C>GCA405328903SCN1Bc.379C>G (p.Leu127Val)
c.280C>G (p.Leu94Val)
c.208-42C>G (n.208-42C>G)
n.388C>G
19g.35033670C>TCA405328904SCN1Bc.379C>T (p.Leu127Phe)
c.280C>T (p.Leu94Phe)
c.208-42C>T (n.208-42C>T)
n.388C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.35033670_35033673delinsCTCTCA2333467040SCN1Bc.379_382delinsCTCT (p.Leu127=)
c.280_283delinsCTCT (p.Leu94=)
c.208-42_208-39delinsCTCT (n.208-42_208-39delinsCTCT)
n.388_391delinsCTCT
19g.35033671T>ACA405328906SCN1Bc.380T>A (p.Leu127His)
c.281T>A (p.Leu94His)
c.208-41T>A (n.208-41T>A)
n.389T>A
19g.35033671T>CCA405328907SCN1Bc.380T>C (p.Leu127Pro)
c.281T>C (p.Leu94Pro)
c.208-41T>C (n.208-41T>C)
n.389T>C
19g.35033671T>GCA405328908SCN1Bc.380T>G (p.Leu127Arg)
c.281T>G (p.Leu94Arg)
c.208-41T>G (n.208-41T>G)
n.389T>G
19g.35033676_35033678delCA9372009SCN1Bc.385_387del (p.Phe129del)
c.286_288del (p.Phe96del)
c.208-36_208-34del (n.208-36_208-34del)
n.394_396del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35033672C>ACA507298147SCN1Bc.381C>A (p.Leu127=)
c.282C>A (p.Leu94=)
c.208-40C>A (n.208-40C>A)
n.390C>A
19g.35033672C=CA2333467042SCN1Bc.381C= (p.Leu127=)
c.282C= (p.Leu94=)
c.208-40C= (n.208-40C=)
n.390C=
19g.35033672C>GCA507298148SCN1Bc.381C>G (p.Leu127=)
c.282C>G (p.Leu94=)
c.208-40C>G (n.208-40C>G)
n.390C>G
 ClinVar
19g.35033672C>TCA507298149SCN1Bc.381C>T (p.Leu127=)
c.282C>T (p.Leu94=)
c.208-40C>T (n.208-40C>T)
n.390C>T
 dbSNP gnomAD v2 gnomAD v4
19g.35033673T>ACA405328909SCN1Bc.382T>A (p.Phe128Ile)
c.283T>A (p.Phe95Ile)
c.208-39T>A (n.208-39T>A)
n.391T>A

Number of alleles fetched