Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.18138862_18138902delCA2677457456TPMTc.494+62_494+102del (n.494+62_494+102del)
c.425+62_425+102del (n.425+62_425+102del)
 gnomAD v4
6g.18138902A=CA1613557442TPMTc.494+61T= (n.494+61T=)
c.425+61T= (n.425+61T=)
6g.18138902A>GCA2677457470TPMTc.494+61T>C (n.494+61T>C)
c.425+61T>C (n.425+61T>C)
 gnomAD v4
6g.18138902A>TCA134966040TPMTc.494+61T>A (n.494+61T>A)
c.425+61T>A (n.425+61T>A)
 dbSNP gnomAD v3 gnomAD v4
6g.18138903G>CCA822716327TPMTc.494+60C>G (n.494+60C>G)
c.425+60C>G (n.425+60C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.18138903G=CA1613557449TPMTc.494+60C= (n.494+60C=)
c.425+60C= (n.425+60C=)
6g.18138904A=CA1613557450TPMTc.494+59T= (n.494+59T=)
c.425+59T= (n.425+59T=)
6g.18138904A>GCA1613557452TPMTc.494+59T>C (n.494+59T>C)
c.425+59T>C (n.425+59T>C)
 dbSNP
6g.18138905A>GCA2677457471TPMTc.494+58T>C (n.494+58T>C)
c.425+58T>C (n.425+58T>C)
 gnomAD v4
6g.18138906A>GCA2677457473TPMTc.494+57T>C (n.494+57T>C)
c.425+57T>C (n.425+57T>C)
 gnomAD v4
6g.18138907_18138911delCA2677457472TPMTc.494+53_494+57del (n.494+53_494+57del)
c.425+53_425+57del (n.425+53_425+57del)
 gnomAD v4
6g.18138907A>GCA2677457474TPMTc.494+56T>C (n.494+56T>C)
c.425+56T>C (n.425+56T>C)
 gnomAD v4
6g.18138909delCA2578538818TPMTc.494+54del (n.494+54del)
c.425+54del (n.425+54del)
 gnomAD v4
6g.18138909G>ACA2677457476TPMTc.494+54C>T (n.494+54C>T)
c.425+54C>T (n.425+54C>T)
 gnomAD v4
6g.18138909G>TCA2677457475TPMTc.494+54C>A (n.494+54C>A)
c.425+54C>A (n.425+54C>A)
 gnomAD v4
6g.18138911A>CCA2677457477TPMTc.494+52T>G (n.494+52T>G)
c.425+52T>G (n.425+52T>G)
 gnomAD v4
6g.18138911A>GCA2677457478TPMTc.494+52T>C (n.494+52T>C)
c.425+52T>C (n.425+52T>C)
 gnomAD v4
6g.18138912T>CCA3650166TPMTc.494+51A>G (n.494+51A>G)
c.425+51A>G (n.425+51A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138912T=CA1613557457TPMTc.494+51A= (n.494+51A=)
c.425+51A= (n.425+51A=)
6g.18138913A=CA1613557461TPMTc.494+50T= (n.494+50T=)
c.425+50T= (n.425+50T=)
6g.18138913A>TCA3650167TPMTc.494+50T>A (n.494+50T>A)
c.425+50T>A (n.425+50T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138914G>ACA1613557464TPMTc.494+49C>T (n.494+49C>T)
c.425+49C>T (n.425+49C>T)
 dbSNP gnomAD v4
6g.18138914G=CA1613557463TPMTc.494+49C= (n.494+49C=)
c.425+49C= (n.425+49C=)
6g.18138915T>CCA2578538819TPMTc.494+48A>G (n.494+48A>G)
c.425+48A>G (n.425+48A>G)
6g.18138916A=CA1613557465TPMTc.494+47T= (n.494+47T=)
c.425+47T= (n.425+47T=)
6g.18138916A>GCA1613557466TPMTc.494+47T>C (n.494+47T>C)
c.425+47T>C (n.425+47T>C)
 dbSNP
6g.18138917T>CCA2677457479TPMTc.494+46A>G (n.494+46A>G)
c.425+46A>G (n.425+46A>G)
 gnomAD v4
6g.18138918A>GCA2677457480TPMTc.494+45T>C (n.494+45T>C)
c.425+45T>C (n.425+45T>C)
 gnomAD v4
6g.18138920T>CCA565556118TPMTc.494+43A>G (n.494+43A>G)
c.425+43A>G (n.425+43A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18138920T=CA1613557468TPMTc.494+43A= (n.494+43A=)
c.425+43A= (n.425+43A=)
6g.18138921A=CA1613557484TPMTc.494+42T= (n.494+42T=)
c.425+42T= (n.425+42T=)
6g.18138921A>CCA3650168TPMTc.494+42T>G (n.494+42T>G)
c.425+42T>G (n.425+42T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138921A>GCA565556119TPMTc.494+42T>C (n.494+42T>C)
c.425+42T>C (n.425+42T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.18138926delCA2677457481TPMTc.494+42del (n.494+42del)
c.425+42del (n.425+42del)
 gnomAD v4
6g.18138923A>GCA2578538820TPMTc.494+40T>C (n.494+40T>C)
c.425+40T>C (n.425+40T>C)
 gnomAD v4
6g.18138926A>CCA2677457482TPMTc.494+37T>G (n.494+37T>G)
c.425+37T>G (n.425+37T>G)
 gnomAD v4
6g.18138927T>ACA2711112878TPMTc.494+36A>T (n.494+36A>T)
c.425+36A>T (n.425+36A>T)
 dbSNP
6g.18138927T>CCA2677457483TPMTc.494+36A>G (n.494+36A>G)
c.425+36A>G (n.425+36A>G)
 gnomAD v4
6g.18138928T>ACA2578538821TPMTc.494+35A>T (n.494+35A>T)
c.425+35A>T (n.425+35A>T)
6g.18138928T>CCA565556120TPMTc.494+35A>G (n.494+35A>G)
c.425+35A>G (n.425+35A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18138928T=CA1613557488TPMTc.494+35A= (n.494+35A=)
c.425+35A= (n.425+35A=)
6g.18138929A>GCA2578538823TPMTc.494+34T>C (n.494+34T>C)
c.425+34T>C (n.425+34T>C)
6g.18138930A>TCA2677457484TPMTc.494+33T>A (n.494+33T>A)
c.425+33T>A (n.425+33T>A)
 gnomAD v4
6g.18138931G>CCA2677457485TPMTc.494+32C>G (n.494+32C>G)
c.425+32C>G (n.425+32C>G)
 gnomAD v4
6g.18138932A=CA1613557491TPMTc.494+31T= (n.494+31T=)
c.425+31T= (n.425+31T=)
6g.18138932A>GCA2677457486TPMTc.494+31T>C (n.494+31T>C)
c.425+31T>C (n.425+31T>C)
 gnomAD v4
6g.18138932A>TCA3650169TPMTc.494+31T>A (n.494+31T>A)
c.425+31T>A (n.425+31T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.18138933C=CA1613557498TPMTc.494+30G= (n.494+30G=)
c.425+30G= (n.425+30G=)
6g.18138933C>GCA822716341TPMTc.494+30G>C (n.494+30G>C)
c.425+30G>C (n.425+30G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.18138933_18138937delinsCAGCTCA1613557495TPMTc.494+26_494+30delinsAGCTG (n.494+26_494+30delinsAGCTG)
c.425+26_425+30delinsAGCTG (n.425+26_425+30delinsAGCTG)
6g.18138935_18138938delCA565556121TPMTc.494+26_494+29del (n.494+26_494+29del)
c.425+26_425+29del (n.425+26_425+29del)
 dbSNP gnomAD v2 gnomAD v4
6g.18138935G>ACA134966045TPMTc.494+28C>T (n.494+28C>T)
c.425+28C>T (n.425+28C>T)
 dbSNP gnomAD v4
6g.18138935G=CA1613557501TPMTc.494+28C= (n.494+28C=)
c.425+28C= (n.425+28C=)
6g.18138935G>TCA2677457487TPMTc.494+28C>A (n.494+28C>A)
c.425+28C>A (n.425+28C>A)
 gnomAD v4
6g.18138938A>GCA2677457488TPMTc.494+25T>C (n.494+25T>C)
c.425+25T>C (n.425+25T>C)
 gnomAD v4
6g.18138941C>ACA3650171TPMTc.494+22G>T (n.494+22G>T)
c.425+22G>T (n.425+22G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.18138941C=CA1613557508TPMTc.494+22G= (n.494+22G=)
c.425+22G= (n.425+22G=)
6g.18138941_18138943delinsCAACA1613557512TPMTc.494+20_494+22delinsTTG (n.494+20_494+22delinsTTG)
c.425+20_425+22delinsTTG (n.425+20_425+22delinsTTG)
6g.18138948dupCA2578538827TPMTc.494+21dup (n.494+21dup)
c.425+21dup (n.425+21dup)
 gnomAD v4
6g.18138948delCA3650170TPMTc.494+21del (n.494+21del)
c.425+21del (n.425+21del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138947_18138948delCA1086470900TPMTc.494+20_494+21del (n.494+20_494+21del)
c.425+20_425+21del (n.425+20_425+21del)
 dbSNP gnomAD v3 gnomAD v4
6g.18138943A=CA1613557515TPMTc.494+20T= (n.494+20T=)
c.425+20T= (n.425+20T=)
6g.18138943A>CCA2578538829TPMTc.494+20T>G (n.494+20T>G)
c.425+20T>G (n.425+20T>G)
6g.18138943A>GCA822716353TPMTc.494+20T>C (n.494+20T>C)
c.425+20T>C (n.425+20T>C)
 dbSNP gnomAD v4
6g.18138948A=CA1613557519TPMTc.494+15T= (n.494+15T=)
c.425+15T= (n.425+15T=)
6g.18138948A>CCA1613557521TPMTc.494+15T>G (n.494+15T>G)
c.425+15T>G (n.425+15T>G)
 dbSNP
6g.18138948A>GCA2677457489TPMTc.494+15T>C (n.494+15T>C)
c.425+15T>C (n.425+15T>C)
 gnomAD v4
6g.18138950A=CA1613557523TPMTc.494+13T= (n.494+13T=)
c.425+13T= (n.425+13T=)
6g.18138950A>GCA3650172TPMTc.494+13T>C (n.494+13T>C)
c.425+13T>C (n.425+13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138954dupCA2677457490TPMTc.494+13dup (n.494+13dup)
c.425+13dup (n.425+13dup)
 gnomAD v4
6g.18138954A>GCA2677457491TPMTc.494+9T>C (n.494+9T>C)
c.425+9T>C (n.425+9T>C)
 gnomAD v4
6g.18138955T>ACA2578538831TPMTc.494+8A>T (n.494+8A>T)
c.425+8A>T (n.425+8A>T)
6g.18138956T>CCA2677457492TPMTc.494+7A>G (n.494+7A>G)
c.425+7A>G (n.425+7A>G)
 gnomAD v4
6g.18138958C=CA1613557527TPMTc.494+5G= (n.494+5G=)
c.425+5G= (n.425+5G=)
6g.18138958C>TCA3650173TPMTc.494+5G>A (n.494+5G>A)
c.425+5G>A (n.425+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.18138961A>CCA362835342TPMTc.494+2T>G (n.494+2T>G)
c.425+2T>G (n.425+2T>G)
6g.18138961A>GCA362835344TPMTc.494+2T>C (n.494+2T>C)
c.425+2T>C (n.425+2T>C)
6g.18138961A>TCA362835347TPMTc.494+2T>A (n.494+2T>A)
c.425+2T>A (n.425+2T>A)
6g.18138961dupCA2677457493TPMTc.494+2dup (n.494+2dup)
c.425+2dup (n.425+2dup)
 gnomAD v4
6g.18138962C>ACA362835356TPMTc.494+1G>T (n.494+1G>T)
c.425+1G>T (n.425+1G>T)
6g.18138962C>GCA362835354TPMTc.494+1G>C (n.494+1G>C)
c.425+1G>C (n.425+1G>C)
6g.18138962C>TCA362835351TPMTc.494+1G>A (n.494+1G>A)
c.425+1G>A (n.425+1G>A)
6g.18138963C>ACA362835360TPMTc.494G>T (p.Cys165Phe)
c.425G>T (p.Cys142Phe)
6g.18138963C>GCA362835362TPMTc.494G>C (p.Cys165Ser)
c.425G>C (p.Cys142Ser)
6g.18138963C>TCA362835364TPMTc.494G>A (p.Cys165Tyr)
c.425G>A (p.Cys142Tyr)
 gnomAD v4
6g.18138964A>CCA362835367TPMTc.493T>G (p.Cys165Gly)
c.424T>G (p.Cys142Gly)
6g.18138964A>GCA362835369TPMTc.493T>C (p.Cys165Arg)
c.424T>C (p.Cys142Arg)
6g.18138964A>TCA362835371TPMTc.493T>A (p.Cys165Ser)
c.424T>A (p.Cys142Ser)
6g.18138965T>ACA362835373TPMTc.492A>T (p.Lys164Asn)
c.423A>T (p.Lys141Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.18138965T>CCA448765211TPMTc.492A>G (p.Lys164=)
c.423A>G (p.Lys141=)
 gnomAD v4
6g.18138965T>GCA362835375TPMTc.492A>C (p.Lys164Asn)
c.423A>C (p.Lys141Asn)
6g.18138965T=CA1613557533TPMTc.492A= (p.Lys164=)
c.423A= (p.Lys141=)
6g.18138966T>ACA362835377TPMTc.491A>T (p.Lys164Ile)
c.422A>T (p.Lys141Ile)
6g.18138966T>CCA362835379TPMTc.491A>G (p.Lys164Arg)
c.422A>G (p.Lys141Arg)
6g.18138966T>GCA362835381TPMTc.491A>C (p.Lys164Thr)
c.422A>C (p.Lys141Thr)
6g.18138967T>ACA362835383TPMTc.490A>T (p.Lys164Ter)
c.421A>T (p.Lys141Ter)
6g.18138967T>CCA362835385TPMTc.490A>G (p.Lys164Glu)
c.421A>G (p.Lys141Glu)
6g.18138967T>GCA362835386TPMTc.490A>C (p.Lys164Gln)
c.421A>C (p.Lys141Gln)
6g.18138968G>ACA448765212TPMTc.489C>T (p.Arg163=)
c.420C>T (p.Arg140=)
6g.18138968G>CCA448765213TPMTc.489C>G (p.Arg163=)
c.420C>G (p.Arg140=)
6g.18138968G>TCA448765214TPMTc.489C>A (p.Arg163=)
c.420C>A (p.Arg140=)
6g.18138969C>ACA362835390TPMTc.488G>T (p.Arg163Leu)
c.419G>T (p.Arg140Leu)
6g.18138969C=CA1613557544TPMTc.488G= (p.Arg163=)
c.419G= (p.Arg140=)
6g.18138969C>GCA362835392TPMTc.488G>C (p.Arg163Pro)
c.419G>C (p.Arg140Pro)
6g.18138969C>TCA3650174TPMTc.488G>A (p.Arg163His)
c.419G>A (p.Arg140His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138970G>ACA3650175TPMTc.487C>T (p.Arg163Cys)
c.418C>T (p.Arg140Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138970G>CCA362835395TPMTc.487C>G (p.Arg163Gly)
c.418C>G (p.Arg140Gly)
6g.18138970G=CA1613557553TPMTc.487C= (p.Arg163=)
c.418C= (p.Arg140=)
6g.18138970G>TCA362835396TPMTc.487C>A (p.Arg163Ser)
c.418C>A (p.Arg140Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18138971A>CCA362835397TPMTc.486T>G (p.Asp162Glu)
c.417T>G (p.Asp139Glu)
6g.18138971A>GCA448765215TPMTc.486T>C (p.Asp162=)
c.417T>C (p.Asp139=)
6g.18138971A>TCA362835399TPMTc.486T>A (p.Asp162Glu)
c.417T>A (p.Asp139Glu)
6g.18138972T>ACA362835405TPMTc.485A>T (p.Asp162Val)
c.416A>T (p.Asp139Val)
6g.18138972T>CCA362835403TPMTc.485A>G (p.Asp162Gly)
c.416A>G (p.Asp139Gly)
6g.18138972T>GCA362835401TPMTc.485A>C (p.Asp162Ala)
c.416A>C (p.Asp139Ala)
6g.18138973C>ACA362835407TPMTc.484G>T (p.Asp162Tyr)
c.415G>T (p.Asp139Tyr)
6g.18138973C>GCA362835409TPMTc.484G>C (p.Asp162His)
c.415G>C (p.Asp139His)
6g.18138973C>TCA362835410TPMTc.484G>A (p.Asp162Asn)
c.415G>A (p.Asp139Asn)
6g.18138974A>CCA448765217TPMTc.483T>G (p.Gly161=)
c.414T>G (p.Gly138=)
 gnomAD v4
6g.18138974A>GCA448765218TPMTc.483T>C (p.Gly161=)
c.414T>C (p.Gly138=)
6g.18138974A>TCA448765216TPMTc.483T>A (p.Gly161=)
c.414T>A (p.Gly138=)
6g.18138975C>ACA362835411TPMTc.482G>T (p.Gly161Val)
c.413G>T (p.Gly138Val)
6g.18138975C=CA1613557560TPMTc.482G= (p.Gly161=)
c.413G= (p.Gly138=)
6g.18138975C>GCA362835413TPMTc.482G>C (p.Gly161Ala)
c.413G>C (p.Gly138Ala)
6g.18138975C>TCA362835414TPMTc.482G>A (p.Gly161Asp)
c.413G>A (p.Gly138Asp)
 dbSNP gnomAD v4
6g.18138976C>ACA362835415TPMTc.481G>T (p.Gly161Cys)
c.412G>T (p.Gly138Cys)
6g.18138976C>GCA362835417TPMTc.481G>C (p.Gly161Arg)
c.412G>C (p.Gly138Arg)
6g.18138976C>TCA362835416TPMTc.481G>A (p.Gly161Ser)
c.412G>A (p.Gly138Ser)
6g.18138977T>ACA448765222TPMTc.480A>T (p.Pro160=)
c.411A>T (p.Pro137=)
6g.18138977T>CCA448765223TPMTc.480A>G (p.Pro160=)
c.411A>G (p.Pro137=)
6g.18138977T>GCA448765224TPMTc.480A>C (p.Pro160=)
c.411A>C (p.Pro137=)
6g.18138978G>ACA362835419TPMTc.479C>T (p.Pro160Leu)
c.410C>T (p.Pro137Leu)
 gnomAD v4
6g.18138978G>CCA362835421TPMTc.479C>G (p.Pro160Arg)
c.410C>G (p.Pro137Arg)
6g.18138978G>TCA362835423TPMTc.479C>A (p.Pro160Gln)
c.410C>A (p.Pro137Gln)
6g.18138979G>ACA362835431TPMTc.478C>T (p.Pro160Ser)
c.409C>T (p.Pro137Ser)
 COSMIC
6g.18138979G>CCA3650176TPMTc.478C>G (p.Pro160Ala)
c.409C>G (p.Pro137Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.18138979G=CA1613557569TPMTc.478C= (p.Pro160=)
c.409C= (p.Pro137=)
6g.18138979G>TCA362835433TPMTc.478C>A (p.Pro160Thr)
c.409C>A (p.Pro137Thr)
6g.18138980A>CCA362835438TPMTc.477T>G (p.Asn159Lys)
c.408T>G (p.Asn136Lys)
6g.18138980A>GCA448765226TPMTc.477T>C (p.Asn159=)
c.408T>C (p.Asn136=)
6g.18138980A>TCA362835439TPMTc.477T>A (p.Asn159Lys)
c.408T>A (p.Asn136Lys)
6g.18138981T>ACA362835443TPMTc.476A>T (p.Asn159Ile)
c.407A>T (p.Asn136Ile)
6g.18138981T>CCA362835444TPMTc.476A>G (p.Asn159Ser)
c.407A>G (p.Asn136Ser)
6g.18138981T>GCA362835446TPMTc.476A>C (p.Asn159Thr)
c.407A>C (p.Asn136Thr)
6g.18138981_18138984delinsTTGACA1613557573TPMTc.473_476delinsTCAA (p.Ile158=)
c.404_407delinsTCAA (p.Ile135=)
6g.18138982T>ACA362835447TPMTc.475A>T (p.Asn159Tyr)
c.406A>T (p.Asn136Tyr)
6g.18138982T>CCA362835450TPMTc.475A>G (p.Asn159Asp)
c.406A>G (p.Asn136Asp)
6g.18138982T>GCA362835449TPMTc.475A>C (p.Asn159His)
c.406A>C (p.Asn136His)
6g.18138982_18138983insAATCA2677457495TPMTc.475_476insTTA (p.Ile158_Asn159insIle)
c.406_407insTTA (p.Ile135_Asn136insIle)
 gnomAD v4
6g.18138984_18138986delCA917687393TPMTc.473_475del (p.Ile158del)
c.404_406del (p.Ile135del)
 dbSNP
6g.18138983G>ACA3650177TPMTc.474C>T (p.Ile158=)
c.405C>T (p.Ile135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18138983G>CCA362835451TPMTc.474C>G (p.Ile158Met)
c.405C>G (p.Ile135Met)
 dbSNP
6g.18138983G=CA1613557591TPMTc.474C= (p.Ile158=)
c.405C= (p.Ile135=)
6g.18138983G>TCA448765227TPMTc.474C>A (p.Ile158=)
c.405C>A (p.Ile135=)
6g.18138983_18138984insCTCCTCTATCCCAACA2677457497TPMTc.473_474insTTGGGATAGAGGAG (p.Asn159TrpfsTer?)
c.404_405insTTGGGATAGAGGAG (p.Asn136TrpfsTer?)
 gnomAD v4
6g.18138984A>CCA362835453TPMTc.473T>G (p.Ile158Ser)
c.404T>G (p.Ile135Ser)
6g.18138984A>GCA362835455TPMTc.473T>C (p.Ile158Thr)
c.404T>C (p.Ile135Thr)
6g.18138984A>TCA362835457TPMTc.473T>A (p.Ile158Asn)
c.404T>A (p.Ile135Asn)
 gnomAD v4
6g.18138985T>ACA362835459TPMTc.472A>T (p.Ile158Phe)
c.403A>T (p.Ile135Phe)
6g.18138985T>CCA3650178TPMTc.472A>G (p.Ile158Val)
c.403A>G (p.Ile135Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.18138985T>GCA362835463TPMTc.472A>C (p.Ile158Leu)
c.403A>C (p.Ile135Leu)
6g.18138985T=CA1613557595TPMTc.472A= (p.Ile158=)
c.403A= (p.Ile135=)
6g.18138986G>ACA448765228TPMTc.471C>T (p.Ala157=)
c.402C>T (p.Ala134=)
 dbSNP gnomAD v3 gnomAD v4
6g.18138986G>CCA448765229TPMTc.471C>G (p.Ala157=)
c.402C>G (p.Ala134=)
6g.18138986G=CA1613557599TPMTc.471C= (p.Ala157=)
c.402C= (p.Ala134=)
6g.18138986G>TCA448765230TPMTc.471C>A (p.Ala157=)
c.402C>A (p.Ala134=)
6g.18138987G>ACA362835465TPMTc.470C>T (p.Ala157Val)
c.401C>T (p.Ala134Val)
6g.18138987G>CCA362835467TPMTc.470C>G (p.Ala157Gly)
c.401C>G (p.Ala134Gly)
6g.18138987G>TCA362835469TPMTc.470C>A (p.Ala157Asp)
c.401C>A (p.Ala134Asp)
6g.18138988C>ACA362835470TPMTc.469G>T (p.Ala157Ser)
c.400G>T (p.Ala134Ser)
6g.18138988C>GCA362835475TPMTc.469G>C (p.Ala157Pro)
c.400G>C (p.Ala134Pro)
6g.18138988C>TCA362835476TPMTc.469G>A (p.Ala157Thr)
c.400G>A (p.Ala134Thr)
 gnomAD v4
6g.18138989A>CCA448765232TPMTc.468T>G (p.Val156=)
c.399T>G (p.Val133=)
6g.18138989A>GCA448765233TPMTc.468T>C (p.Val156=)
c.399T>C (p.Val133=)
6g.18138989A>TCA448765234TPMTc.468T>A (p.Val156=)
c.399T>A (p.Val133=)
6g.18138990A>CCA362835477TPMTc.467T>G (p.Val156Gly)
c.398T>G (p.Val133Gly)
6g.18138990A>GCA362835479TPMTc.467T>C (p.Val156Ala)
c.398T>C (p.Val133Ala)
6g.18138990A>TCA362835478TPMTc.467T>A (p.Val156Asp)
c.398T>A (p.Val133Asp)
6g.18138991C>ACA362835481TPMTc.466G>T (p.Val156Phe)
c.397G>T (p.Val133Phe)
6g.18138991C>GCA362835483TPMTc.466G>C (p.Val156Leu)
c.397G>C (p.Val133Leu)
6g.18138991C>TCA362835484TPMTc.466G>A (p.Val156Ile)
c.397G>A (p.Val133Ile)
6g.18138992T>ACA362835485TPMTc.465A>T (p.Leu155Phe)
c.396A>T (p.Leu132Phe)
6g.18138992T>CCA448765235TPMTc.465A>G (p.Leu155=)
c.396A>G (p.Leu132=)
6g.18138992T>GCA362835490TPMTc.465A>C (p.Leu155Phe)
c.396A>C (p.Leu132Phe)
6g.18138993A=CA1613557603TPMTc.464T= (p.Leu155=)
c.395T= (p.Leu132=)
6g.18138993A>CCA362835492TPMTc.464T>G (p.Leu155Ter)
c.395T>G (p.Leu132Ter)
6g.18138993A>GCA362835493TPMTc.464T>C (p.Leu155Ser)
c.395T>C (p.Leu132Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.18138993A>TCA362835495TPMTc.464T>A (p.Leu155Ter)
c.395T>A (p.Leu132Ter)
6g.18138994A>CCA362835497TPMTc.463T>G (p.Leu155Val)
c.394T>G (p.Leu132Val)
6g.18138994A>GCA448765236TPMTc.463T>C (p.Leu155=)
c.394T>C (p.Leu132=)
6g.18138994A>TCA362835507TPMTc.463T>A (p.Leu155Ile)
c.394T>A (p.Leu132Ile)
6g.18138995T>ACA448765237TPMTc.462A>T (p.Ala154=)
c.393A>T (p.Ala131=)
6g.18138995T>CCA448765239TPMTc.462A>G (p.Ala154=)
c.393A>G (p.Ala131=)
 dbSNP gnomAD v3 gnomAD v4
6g.18138995T>GCA448765238TPMTc.462A>C (p.Ala154=)
c.393A>C (p.Ala131=)
6g.18138995T=CA1613557611TPMTc.462A= (p.Ala154=)
c.393A= (p.Ala131=)
6g.18138996G>ACA362835513TPMTc.461C>T (p.Ala154Val)
c.392C>T (p.Ala131Val)
6g.18138996G>CCA362835515TPMTc.461C>G (p.Ala154Gly)
c.392C>G (p.Ala131Gly)
6g.18138996G=CA1613557623TPMTc.461C= (p.Ala154=)
c.392C= (p.Ala131=)
6g.18138996G>TCA362835510TPMTc.461C>A (p.Ala154Glu)
c.392C>A (p.Ala131Glu)
6g.18138997C>ACA362835519TPMTc.460G>T (p.Ala154Ser)
c.391G>T (p.Ala131Ser)
 dbSNP gnomAD v4
6g.18138997C=CA891834522TPMTc.460G= (p.Ala154=)
c.391G= (p.Ala131=)
6g.18138997C>GCA362835520TPMTc.460G>C (p.Ala154Pro)
c.391G>C (p.Ala131Pro)
6g.18138997C>TCA122645TPMTc.460G>A (p.Ala154Thr)
c.391G>A (p.Ala131Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18139000_18139002dupCA822716420TPMTc.458_460dup (p.Gly153_Ala154insGly)
c.389_391dup (p.Gly130_Ala131insGly)
 dbSNP gnomAD v3 gnomAD v4
6g.18138998T>ACA448765242TPMTc.459A>T (p.Gly153=)
c.390A>T (p.Gly130=)
6g.18138998T>CCA448765243TPMTc.459A>G (p.Gly153=)
c.390A>G (p.Gly130=)
6g.18138998T>GCA448765244TPMTc.459A>C (p.Gly153=)
c.390A>C (p.Gly130=)
6g.18138999C>ACA362835524TPMTc.458G>T (p.Gly153Val)
c.389G>T (p.Gly130Val)
6g.18138999C>GCA362835526TPMTc.458G>C (p.Gly153Ala)
c.389G>C (p.Gly130Ala)
6g.18138999C>TCA362835530TPMTc.458G>A (p.Gly153Glu)
c.389G>A (p.Gly130Glu)
6g.18139000C>ACA362835532TPMTc.457G>T (p.Gly153Ter)
c.388G>T (p.Gly130Ter)
6g.18139000C>GCA362835533TPMTc.457G>C (p.Gly153Arg)
c.388G>C (p.Gly130Arg)
6g.18139000C>TCA362835536TPMTc.457G>A (p.Gly153Arg)
c.388G>A (p.Gly130Arg)
6g.18139001T>ACA362835543TPMTc.456A>T (p.Arg152Ser)
c.387A>T (p.Arg129Ser)
6g.18139001T>CCA448765249TPMTc.456A>G (p.Arg152=)
c.387A>G (p.Arg129=)
6g.18139001T>GCA362835545TPMTc.456A>C (p.Arg152Ser)
c.387A>C (p.Arg129Ser)
6g.18139002C>ACA362835547TPMTc.455G>T (p.Arg152Ile)
c.386G>T (p.Arg129Ile)
6g.18139002C=CA1613557636TPMTc.455G= (p.Arg152=)
c.386G= (p.Arg129=)
6g.18139002C>GCA362835549TPMTc.455G>C (p.Arg152Thr)
c.386G>C (p.Arg129Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18139002C>TCA362835550TPMTc.455G>A (p.Arg152Lys)
c.386G>A (p.Arg129Lys)

Number of alleles fetched