Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.18130687T>ACA362832116TPMTc.719A>T (p.Tyr240Phe)
c.674A>T (p.Tyr225Phe)
c.650A>T (p.Tyr217Phe)
6g.18130687T>CCA122646TPMTc.719A>G (p.Tyr240Cys)
c.674A>G (p.Tyr225Cys)
c.650A>G (p.Tyr217Cys)
ClinVar dbSNP ExAC gnomAD
6g.[18130687T>C;18138997C>T]CA357862TPMTc.[460G>A;719A>G] (p.[Ala154Thr;Tyr240Cys])
c.[460G>A;674A>G] (p.[Ala154Thr;Tyr225Cys])
c.[391G>A;650A>G] (p.[Ala131Thr;Tyr217Cys])
ClinVar
6g.18130687T>GCA134961548TPMTc.719A>C (p.Tyr240Ser)
c.674A>C (p.Tyr225Ser)
c.650A>C (p.Tyr217Ser)
dbSNP
6g.18130687T=CA1613545734TPMTc.719A= (p.Tyr240=)
c.674A= (p.Tyr225=)
c.650A= (p.Tyr217=)
6g.18130688A=CA1613545741TPMTc.718T= (p.Tyr240=)
c.673T= (p.Tyr225=)
c.649T= (p.Tyr217=)
6g.18130688A>CCA362832119TPMTc.718T>G (p.Tyr240Asp)
c.673T>G (p.Tyr225Asp)
c.649T>G (p.Tyr217Asp)
6g.18130688A>GCA362832121TPMTc.718T>C (p.Tyr240His)
c.673T>C (p.Tyr225His)
c.649T>C (p.Tyr217His)
gnomAD
6g.18130688A>TCA362832123TPMTc.718T>A (p.Tyr240Asn)
c.673T>A (p.Tyr225Asn)
c.649T>A (p.Tyr217Asn)
6g.18130689T>ACA362832125TPMTc.717A>T (p.Leu239Phe)
c.672A>T (p.Leu224Phe)
c.648A>T (p.Leu216Phe)
6g.18130689T>CCA448764665TPMTc.717A>G (p.Leu239=)
c.672A>G (p.Leu224=)
c.648A>G (p.Leu216=)
6g.18130689T>GCA362832127TPMTc.717A>C (p.Leu239Phe)
c.672A>C (p.Leu224Phe)
c.648A>C (p.Leu216Phe)
6g.18130690A>CCA362832129TPMTc.716T>G (p.Leu239Ter)
c.671T>G (p.Leu224Ter)
c.647T>G (p.Leu216Ter)
6g.18130690A>GCA362832131TPMTc.716T>C (p.Leu239Ser)
c.671T>C (p.Leu224Ser)
c.647T>C (p.Leu216Ser)
6g.18130690A>TCA362832133TPMTc.716T>A (p.Leu239Ter)
c.671T>A (p.Leu224Ter)
c.647T>A (p.Leu216Ter)
6g.18130691A>CCA362832135TPMTc.715T>G (p.Leu239Val)
c.670T>G (p.Leu224Val)
c.646T>G (p.Leu216Val)
6g.18130691A>GCA448764666TPMTc.715T>C (p.Leu239=)
c.670T>C (p.Leu224=)
c.646T>C (p.Leu216=)
6g.18130691A>TCA362832137TPMTc.715T>A (p.Leu239Ile)
c.670T>A (p.Leu224Ile)
c.646T>A (p.Leu216Ile)
6g.18130692C>ACA362832142TPMTc.714G>T (p.Lys238Asn)
c.669G>T (p.Lys223Asn)
c.645G>T (p.Lys215Asn)
6g.18130692C>GCA362832139TPMTc.714G>C (p.Lys238Asn)
c.669G>C (p.Lys223Asn)
c.645G>C (p.Lys215Asn)
6g.18130692C>TCA448764667TPMTc.714G>A (p.Lys238=)
c.669G>A (p.Lys223=)
c.645G>A (p.Lys215=)
6g.18130693T>ACA362832143TPMTc.713A>T (p.Lys238Met)
c.668A>T (p.Lys223Met)
c.644A>T (p.Lys215Met)
6g.18130693T>CCA362832145TPMTc.713A>G (p.Lys238Arg)
c.668A>G (p.Lys223Arg)
c.644A>G (p.Lys215Arg)
6g.18130693T>GCA362832146TPMTc.713A>C (p.Lys238Thr)
c.668A>C (p.Lys223Thr)
c.644A>C (p.Lys215Thr)
6g.18130694T>ACA362832148TPMTc.712A>T (p.Lys238Ter)
c.667A>T (p.Lys223Ter)
c.643A>T (p.Lys215Ter)
6g.18130694T>CCA3650081TPMTc.712A>G (p.Lys238Glu)
c.667A>G (p.Lys223Glu)
c.643A>G (p.Lys215Glu)
dbSNP ExAC gnomAD
6g.18130694T>GCA362832151TPMTc.712A>C (p.Lys238Gln)
c.667A>C (p.Lys223Gln)
c.643A>C (p.Lys215Gln)
6g.18130694T=CA1613545744TPMTc.712A= (p.Lys238=)
c.667A= (p.Lys223=)
c.643A= (p.Lys215=)
6g.18130695T>ACA362832153TPMTc.711A>T (p.Glu237Asp)
c.666A>T (p.Glu222Asp)
c.642A>T (p.Glu214Asp)
6g.18130695T>CCA448764668TPMTc.711A>G (p.Glu237=)
c.666A>G (p.Glu222=)
c.642A>G (p.Glu214=)
6g.18130695T>GCA362832155TPMTc.711A>C (p.Glu237Asp)
c.666A>C (p.Glu222Asp)
c.642A>C (p.Glu214Asp)
6g.18130696T>ACA362832158TPMTc.710A>T (p.Glu237Val)
c.665A>T (p.Glu222Val)
c.641A>T (p.Glu214Val)
6g.18130696T>CCA362832160TPMTc.710A>G (p.Glu237Gly)
c.665A>G (p.Glu222Gly)
c.641A>G (p.Glu214Gly)
6g.18130696T>GCA362832162TPMTc.710A>C (p.Glu237Ala)
c.665A>C (p.Glu222Ala)
c.641A>C (p.Glu214Ala)
6g.18130697C>ACA362832164TPMTc.709G>T (p.Glu237Ter)
c.664G>T (p.Glu222Ter)
c.640G>T (p.Glu214Ter)
6g.18130697C>GCA362832166TPMTc.709G>C (p.Glu237Gln)
c.664G>C (p.Glu222Gln)
c.640G>C (p.Glu214Gln)
6g.18130697C>TCA362832167TPMTc.709G>A (p.Glu237Lys)
c.664G>A (p.Glu222Lys)
c.640G>A (p.Glu214Lys)
6g.18130698A>CCA362832170TPMTc.708T>G (p.Phe236Leu)
c.663T>G (p.Phe221Leu)
c.639T>G (p.Phe213Leu)
6g.18130698A>GCA448764669TPMTc.708T>C (p.Phe236=)
c.663T>C (p.Phe221=)
c.639T>C (p.Phe213=)
6g.18130698A>TCA362832172TPMTc.708T>A (p.Phe236Leu)
c.663T>A (p.Phe221Leu)
c.639T>A (p.Phe213Leu)
6g.18130702delCA645551455TPMTc.708del (p.Phe236LeufsTer12)
c.663del (p.Phe221LeufsTer12)
c.639del (p.Phe213LeufsTer12)
COSMIC
6g.18130699A>CCA362832174TPMTc.707T>G (p.Phe236Cys)
c.662T>G (p.Phe221Cys)
c.638T>G (p.Phe213Cys)
6g.18130699A>GCA362832178TPMTc.707T>C (p.Phe236Ser)
c.662T>C (p.Phe221Ser)
c.638T>C (p.Phe213Ser)
6g.18130699A>TCA362832176TPMTc.707T>A (p.Phe236Tyr)
c.662T>A (p.Phe221Tyr)
c.638T>A (p.Phe213Tyr)
6g.18130700_18130706delCA448764670TPMTc.701_707del (p.Cys234LeufsTer12)
c.656_662del (p.Cys219LeufsTer12)
c.632_638del (p.Cys211LeufsTer12)
6g.18130700A>CCA362832180TPMTc.706T>G (p.Phe236Val)
c.661T>G (p.Phe221Val)
c.637T>G (p.Phe213Val)
6g.18130700A>GCA362832182TPMTc.706T>C (p.Phe236Leu)
c.661T>C (p.Phe221Leu)
c.637T>C (p.Phe213Leu)
6g.18130700A>TCA362832184TPMTc.706T>A (p.Phe236Ile)
c.661T>A (p.Phe221Ile)
c.637T>A (p.Phe213Ile)
6g.18130701A=CA1613545746TPMTc.705T= (p.Leu235=)
c.660T= (p.Leu220=)
c.636T= (p.Leu212=)
6g.18130701A>CCA448764671TPMTc.705T>G (p.Leu235=)
c.660T>G (p.Leu220=)
c.636T>G (p.Leu212=)

Number of alleles fetched