Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.18143624G>ACA362838191TPMTc.338C>T (p.Thr113Ile)
c.269C>T (p.Thr90Ile)
6g.18143624G>CCA362838193TPMTc.338C>G (p.Thr113Ser)
c.269C>G (p.Thr90Ser)
6g.18143624G>TCA362838195TPMTc.338C>A (p.Thr113Asn)
c.269C>A (p.Thr90Asn)
6g.18143625T>ACA362838196TPMTc.337A>T (p.Thr113Ser)
c.268A>T (p.Thr90Ser)
6g.18143625T>CCA362838197TPMTc.337A>G (p.Thr113Ala)
c.268A>G (p.Thr90Ala)
6g.18143625T>GCA362838198TPMTc.337A>C (p.Thr113Pro)
c.268A>C (p.Thr90Pro)
6g.18143626G>ACA3650234TPMTc.336C>T (p.Ile112=)
c.267C>T (p.Ile89=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143626G>CCA362838199TPMTc.336C>G (p.Ile112Met)
c.267C>G (p.Ile89Met)
6g.18143626G=CA1613565369TPMTc.336C= (p.Ile112=)
c.267C= (p.Ile89=)
6g.18143626G>TCA448765703TPMTc.336C>A (p.Ile112=)
c.267C>A (p.Ile89=)
6g.18143627A=CA1613565371TPMTc.335T= (p.Ile112=)
c.266T= (p.Ile89=)
6g.18143627A>CCA362838202TPMTc.335T>G (p.Ile112Ser)
c.266T>G (p.Ile89Ser)
6g.18143627A>GCA362838204TPMTc.335T>C (p.Ile112Thr)
c.266T>C (p.Ile89Thr)
gnomAD v4
6g.18143627A>TCA10623509TPMTc.335T>A (p.Ile112Asn)
c.266T>A (p.Ile89Asn)
ClinVar dbSNP
6g.18143628T>ACA362838205TPMTc.334A>T (p.Ile112Phe)
c.265A>T (p.Ile89Phe)
6g.18143628T>CCA362838209TPMTc.334A>G (p.Ile112Val)
c.265A>G (p.Ile89Val)
6g.18143628T>GCA362838207TPMTc.334A>C (p.Ile112Leu)
c.265A>C (p.Ile89Leu)
6g.18143629T>ACA448765713TPMTc.333A>T (p.Pro111=)
c.264A>T (p.Pro88=)
6g.18143629T>CCA448765715TPMTc.333A>G (p.Pro111=)
c.264A>G (p.Pro88=)
6g.18143629T>GCA448765716TPMTc.333A>C (p.Pro111=)
c.264A>C (p.Pro88=)
6g.18143630G>ACA362838210TPMTc.332C>T (p.Pro111Leu)
c.263C>T (p.Pro88Leu)
6g.18143630G>CCA3650235TPMTc.332C>G (p.Pro111Arg)
c.263C>G (p.Pro88Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18143630G=CA1613565377TPMTc.332C= (p.Pro111=)
c.263C= (p.Pro88=)
6g.18143630G>TCA362838213TPMTc.332C>A (p.Pro111Gln)
c.263C>A (p.Pro88Gln)
6g.18143631G>ACA362838214TPMTc.331C>T (p.Pro111Ser)
c.262C>T (p.Pro88Ser)
dbSNP gnomAD v3 gnomAD v4
6g.18143631G>CCA362838215TPMTc.331C>G (p.Pro111Ala)
c.262C>G (p.Pro88Ala)
6g.18143631G=CA1613565379TPMTc.331C= (p.Pro111=)
c.262C= (p.Pro88=)
6g.18143631G>TCA362838216TPMTc.331C>A (p.Pro111Thr)
c.262C>A (p.Pro88Thr)
gnomAD v4
6g.18143632T>ACA362838217TPMTc.330A>T (p.Glu110Asp)
c.261A>T (p.Glu87Asp)
6g.18143632T>CCA448765721TPMTc.330A>G (p.Glu110=)
c.261A>G (p.Glu87=)
6g.18143632T>GCA362838218TPMTc.330A>C (p.Glu110Asp)
c.261A>C (p.Glu87Asp)
6g.18143633T>ACA362838220TPMTc.329A>T (p.Glu110Val)
c.260A>T (p.Glu87Val)
6g.18143633T>CCA362838221TPMTc.329A>G (p.Glu110Gly)
c.260A>G (p.Glu87Gly)
6g.18143633T>GCA362838223TPMTc.329A>C (p.Glu110Ala)
c.260A>C (p.Glu87Ala)
6g.18143634C>ACA362838229TPMTc.328G>T (p.Glu110Ter)
c.259G>T (p.Glu87Ter)
6g.18143634C>GCA362838225TPMTc.328G>C (p.Glu110Gln)
c.259G>C (p.Glu87Gln)
6g.18143634C>TCA362838227TPMTc.328G>A (p.Glu110Lys)
c.259G>A (p.Glu87Lys)
6g.18143635T>ACA362838231TPMTc.327A>T (p.Glu109Asp)
c.258A>T (p.Glu86Asp)
6g.18143635T>CCA448765722TPMTc.327A>G (p.Glu109=)
c.258A>G (p.Glu86=)
6g.18143635T>GCA362838232TPMTc.327A>C (p.Glu109Asp)
c.258A>C (p.Glu86Asp)
dbSNP
6g.18143635T=CA1613565383TPMTc.327A= (p.Glu109=)
c.258A= (p.Glu86=)
6g.18143636T>ACA362838234TPMTc.326A>T (p.Glu109Val)
c.257A>T (p.Glu86Val)
dbSNP gnomAD v2 gnomAD v4
6g.18143636T>CCA362838236TPMTc.326A>G (p.Glu109Gly)
c.257A>G (p.Glu86Gly)
6g.18143636T>GCA362838237TPMTc.326A>C (p.Glu109Ala)
c.257A>C (p.Glu86Ala)
6g.18143636T=CA1613565393TPMTc.326A= (p.Glu109=)
c.257A= (p.Glu86=)
6g.18143637C>ACA362838239TPMTc.325G>T (p.Glu109Ter)
c.256G>T (p.Glu86Ter)
6g.18143637C=CA1613565396TPMTc.325G= (p.Glu109=)
c.256G= (p.Glu86=)
6g.18143637C>GCA362838241TPMTc.325G>C (p.Glu109Gln)
c.256G>C (p.Glu86Gln)
6g.18143637C>TCA362838242TPMTc.325G>A (p.Glu109Lys)
c.256G>A (p.Glu86Lys)
dbSNP gnomAD v2 gnomAD v4
6g.18143638T>ACA448765729TPMTc.324A>T (p.Ser108=)
c.255A>T (p.Ser85=)
6g.18143638T>CCA448765730TPMTc.324A>G (p.Ser108=)
c.255A>G (p.Ser85=)
6g.18143638T>GCA448765731TPMTc.324A>C (p.Ser108=)
c.255A>C (p.Ser85=)
6g.18143639G>ACA362838244TPMTc.323C>T (p.Ser108Leu)
c.254C>T (p.Ser85Leu)
6g.18143639G>CCA362838245TPMTc.323C>G (p.Ser108Ter)
c.254C>G (p.Ser85Ter)
6g.18143639G>TCA362838247TPMTc.323C>A (p.Ser108Ter)
c.254C>A (p.Ser85Ter)
6g.18143640A>CCA362838251TPMTc.322T>G (p.Ser108Ala)
c.253T>G (p.Ser85Ala)
6g.18143640A>GCA362838255TPMTc.322T>C (p.Ser108Pro)
c.253T>C (p.Ser85Pro)
gnomAD v4
6g.18143640A>TCA362838249TPMTc.322T>A (p.Ser108Thr)
c.253T>A (p.Ser85Thr)
6g.18143641G>ACA448765740TPMTc.321C>T (p.Tyr107=)
c.252C>T (p.Tyr84=)
6g.18143641G>CCA3650236TPMTc.321C>G (p.Tyr107Ter)
c.252C>G (p.Tyr84Ter)
dbSNP ExAC gnomAD v2
6g.18143641G=CA1613565399TPMTc.321C= (p.Tyr107=)
c.252C= (p.Tyr84=)
6g.18143641G>TCA362838257TPMTc.321C>A (p.Tyr107Ter)
c.252C>A (p.Tyr84Ter)
6g.18143642T>ACA362838259TPMTc.320A>T (p.Tyr107Phe)
c.251A>T (p.Tyr84Phe)
6g.18143642T>CCA362838260TPMTc.320A>G (p.Tyr107Cys)
c.251A>G (p.Tyr84Cys)
6g.18143642T>GCA362838263TPMTc.320A>C (p.Tyr107Ser)
c.251A>C (p.Tyr84Ser)
6g.18143643A>CCA362838265TPMTc.319T>G (p.Tyr107Asp)
c.250T>G (p.Tyr84Asp)
gnomAD v4
6g.18143643A>GCA362838267TPMTc.319T>C (p.Tyr107His)
c.250T>C (p.Tyr84His)
6g.18143643A>TCA362838269TPMTc.319T>A (p.Tyr107Asn)
c.250T>A (p.Tyr84Asn)
6g.18143644A=CA1613565403TPMTc.318T= (p.Ser106=)
c.249T= (p.Ser83=)
6g.18143644A>CCA448765745TPMTc.318T>G (p.Ser106=)
c.249T>G (p.Ser83=)
6g.18143644A>GCA448765746TPMTc.318T>C (p.Ser106=)
c.249T>C (p.Ser83=)
6g.18143644A>TCA3650237TPMTc.318T>A (p.Ser106=)
c.249T>A (p.Ser83=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18143645G>ACA3650238TPMTc.317C>T (p.Ser106Phe)
c.248C>T (p.Ser83Phe)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.18143645G>CCA362838271TPMTc.317C>G (p.Ser106Cys)
c.248C>G (p.Ser83Cys)
6g.18143645G=CA1613565412TPMTc.317C= (p.Ser106=)
c.248C= (p.Ser83=)
6g.18143645G>TCA362838272TPMTc.317C>A (p.Ser106Tyr)
c.248C>A (p.Ser83Tyr)
6g.18143646A>CCA362838275TPMTc.316T>G (p.Ser106Ala)
c.247T>G (p.Ser83Ala)
6g.18143646A>GCA362838278TPMTc.316T>C (p.Ser106Pro)
c.247T>C (p.Ser83Pro)
6g.18143646A>TCA362838273TPMTc.316T>A (p.Ser106Thr)
c.247T>A (p.Ser83Thr)
6g.18143647A>CCA448765752TPMTc.315T>G (p.Leu105=)
c.246T>G (p.Leu82=)
6g.18143647A>GCA448765753TPMTc.315T>C (p.Leu105=)
c.246T>C (p.Leu82=)
6g.18143647A>TCA448765755TPMTc.315T>A (p.Leu105=)
c.246T>A (p.Leu82=)
6g.18143648A=CA1613565418TPMTc.314T= (p.Leu105=)
c.245T= (p.Leu82=)
6g.18143648A>CCA362838280TPMTc.314T>G (p.Leu105Arg)
c.245T>G (p.Leu82Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18143648A>GCA362838282TPMTc.314T>C (p.Leu105Pro)
c.245T>C (p.Leu82Pro)
6g.18143648A>TCA362838284TPMTc.314T>A (p.Leu105His)
c.245T>A (p.Leu82His)
6g.18143649G>ACA362838285TPMTc.313C>T (p.Leu105Phe)
c.244C>T (p.Leu82Phe)
6g.18143649G>CCA134967666TPMTc.313C>G (p.Leu105Val)
c.244C>G (p.Leu82Val)
dbSNP
6g.18143649G=CA1613565425TPMTc.313C= (p.Leu105=)
c.244C= (p.Leu82=)
6g.18143649G>TCA362838287TPMTc.313C>A (p.Leu105Ile)
c.244C>A (p.Leu82Ile)
6g.18143650A>CCA362838288TPMTc.312T>G (p.Asn104Lys)
c.243T>G (p.Asn81Lys)
6g.18143650A>GCA448765757TPMTc.312T>C (p.Asn104=)
c.243T>C (p.Asn81=)
6g.18143650A>TCA362838290TPMTc.312T>A (p.Asn104Lys)
c.243T>A (p.Asn81Lys)
6g.18143651T>ACA362838292TPMTc.311A>T (p.Asn104Ile)
c.242A>T (p.Asn81Ile)
6g.18143651T>CCA362838293TPMTc.311A>G (p.Asn104Ser)
c.242A>G (p.Asn81Ser)
6g.18143651T>GCA362838294TPMTc.311A>C (p.Asn104Thr)
c.242A>C (p.Asn81Thr)
dbSNP
6g.18143651T=CA1613565429TPMTc.311A= (p.Asn104=)
c.242A= (p.Asn81=)
6g.18143652T>ACA362838295TPMTc.310A>T (p.Asn104Tyr)
c.241A>T (p.Asn81Tyr)
6g.18143652T>CCA362838296TPMTc.310A>G (p.Asn104Asp)
c.241A>G (p.Asn81Asp)
6g.18143652T>GCA362838297TPMTc.310A>C (p.Asn104His)
c.241A>C (p.Asn81His)
6g.18143653C>ACA362838299TPMTc.309G>T (p.Gln103His)
c.240G>T (p.Gln80His)
6g.18143653C=CA1613565432TPMTc.309G= (p.Gln103=)
c.240G= (p.Gln80=)
6g.18143653C>GCA362838300TPMTc.309G>C (p.Gln103His)
c.240G>C (p.Gln80His)
6g.18143653C>TCA448765762TPMTc.309G>A (p.Gln103=)
c.240G>A (p.Gln80=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.18143654T>ACA362838302TPMTc.308A>T (p.Gln103Leu)
c.239A>T (p.Gln80Leu)
6g.18143654T>CCA362838304TPMTc.308A>G (p.Gln103Arg)
c.239A>G (p.Gln80Arg)
6g.18143654T>GCA362838303TPMTc.308A>C (p.Gln103Pro)
c.239A>C (p.Gln80Pro)
6g.18143655G>ACA362838305TPMTc.307C>T (p.Gln103Ter)
c.238C>T (p.Gln80Ter)
6g.18143655G>CCA362838308TPMTc.307C>G (p.Gln103Glu)
c.238C>G (p.Gln80Glu)
6g.18143655G>TCA362838307TPMTc.307C>A (p.Gln103Lys)
c.238C>A (p.Gln80Lys)
6g.18143656C>ACA362838310TPMTc.306G>T (p.Glu102Asp)
c.237G>T (p.Glu79Asp)
6g.18143656C=CA1613565434TPMTc.306G= (p.Glu102=)
c.237G= (p.Glu79=)
6g.18143656C>GCA362838312TPMTc.306G>C (p.Glu102Asp)
c.237G>C (p.Glu79Asp)
6g.18143656C>TCA3650239TPMTc.306G>A (p.Glu102=)
c.237G>A (p.Glu79=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18143657T>ACA362838314TPMTc.305A>T (p.Glu102Val)
c.236A>T (p.Glu79Val)
6g.18143657T>CCA362838316TPMTc.305A>G (p.Glu102Gly)
c.236A>G (p.Glu79Gly)
6g.18143657T>GCA362838318TPMTc.305A>C (p.Glu102Ala)
c.236A>C (p.Glu79Ala)
6g.18143658C>ACA362838320TPMTc.304G>T (p.Glu102Ter)
c.235G>T (p.Glu79Ter)
6g.18143658C>GCA362838321TPMTc.304G>C (p.Glu102Gln)
c.235G>C (p.Glu79Gln)
6g.18143658C>TCA362838323TPMTc.304G>A (p.Glu102Lys)
c.235G>A (p.Glu79Lys)
6g.18143659T>ACA448765766TPMTc.303A>T (p.Thr101=)
c.234A>T (p.Thr78=)
6g.18143659T>CCA448765767TPMTc.303A>G (p.Thr101=)
c.234A>G (p.Thr78=)
6g.18143659T>GCA448765769TPMTc.303A>C (p.Thr101=)
c.234A>C (p.Thr78=)
gnomAD v4
6g.18143660G>ACA362838325TPMTc.302C>T (p.Thr101Ile)
c.233C>T (p.Thr78Ile)
gnomAD v4
6g.18143660G>CCA362838326TPMTc.302C>G (p.Thr101Arg)
c.233C>G (p.Thr78Arg)
6g.18143660G>TCA362838327TPMTc.302C>A (p.Thr101Lys)
c.233C>A (p.Thr78Lys)
6g.18143661T>ACA362838329TPMTc.301A>T (p.Thr101Ser)
c.232A>T (p.Thr78Ser)
6g.18143661T>CCA362838332TPMTc.301A>G (p.Thr101Ala)
c.232A>G (p.Thr78Ala)
6g.18143661T>GCA362838331TPMTc.301A>C (p.Thr101Pro)
c.232A>C (p.Thr78Pro)
6g.18143662A>CCA362838333TPMTc.300T>G (p.Phe100Leu)
c.231T>G (p.Phe77Leu)
gnomAD v4
6g.18143662A>GCA448765772TPMTc.300T>C (p.Phe100=)
c.231T>C (p.Phe77=)
6g.18143662A>TCA362838334TPMTc.300T>A (p.Phe100Leu)
c.231T>A (p.Phe77Leu)
6g.18143667dupCA645555684TPMTc.300dup (p.Thr101TyrfsTer22)
c.231dup (p.Thr78TyrfsTer22)
gnomAD v4 COSMIC
6g.18143667delCA645555685TPMTc.300del (p.Phe100LeufsTer?)
c.231del (p.Phe77LeufsTer?)
gnomAD v4 COSMIC
6g.18143662_18143663insTCA448765773TPMTc.299_300insA (p.Phe100LeufsTer23)
c.230_231insA (p.Phe77LeufsTer23)
6g.18143663A>CCA362838336TPMTc.299T>G (p.Phe100Cys)
c.230T>G (p.Phe77Cys)
6g.18143663A>GCA362838337TPMTc.299T>C (p.Phe100Ser)
c.230T>C (p.Phe77Ser)
gnomAD v4
6g.18143663A>TCA362838338TPMTc.299T>A (p.Phe100Tyr)
c.230T>A (p.Phe77Tyr)
6g.18143664A>CCA362838339TPMTc.298T>G (p.Phe100Val)
c.229T>G (p.Phe77Val)
6g.18143664A>GCA362838340TPMTc.298T>C (p.Phe100Leu)
c.229T>C (p.Phe77Leu)
COSMIC
6g.18143664A>TCA362838341TPMTc.298T>A (p.Phe100Ile)
c.229T>A (p.Phe77Ile)
6g.18143665A>CCA362838343TPMTc.297T>G (p.Phe99Leu)
c.228T>G (p.Phe76Leu)
6g.18143665A>GCA448765775TPMTc.297T>C (p.Phe99=)
c.228T>C (p.Phe76=)
6g.18143665A>TCA362838344TPMTc.297T>A (p.Phe99Leu)
c.228T>A (p.Phe76Leu)
6g.18143666A>CCA362838350TPMTc.296T>G (p.Phe99Cys)
c.227T>G (p.Phe76Cys)
COSMIC
6g.18143666A>GCA362838348TPMTc.296T>C (p.Phe99Ser)
c.227T>C (p.Phe76Ser)
6g.18143666A>TCA362838346TPMTc.296T>A (p.Phe99Tyr)
c.227T>A (p.Phe76Tyr)
6g.18143667A=CA1613565438TPMTc.295T= (p.Phe99=)
c.226T= (p.Phe76=)
6g.18143667A>CCA362838359TPMTc.295T>G (p.Phe99Val)
c.226T>G (p.Phe76Val)
6g.18143667A>GCA362838356TPMTc.295T>C (p.Phe99Leu)
c.226T>C (p.Phe76Leu)
dbSNP
6g.18143667A>TCA362838358TPMTc.295T>A (p.Phe99Ile)
c.226T>A (p.Phe76Ile)
6g.18143668T>ACA362838361TPMTc.294A>T (p.Glu98Asp)
c.225A>T (p.Glu75Asp)
gnomAD v4
6g.18143668T>CCA448765778TPMTc.294A>G (p.Glu98=)
c.225A>G (p.Glu75=)
6g.18143668T>GCA3650240TPMTc.294A>C (p.Glu98Asp)
c.225A>C (p.Glu75Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.18143668T=CA1613565442TPMTc.294A= (p.Glu98=)
c.225A= (p.Glu75=)
6g.18143669T>ACA362838364TPMTc.293A>T (p.Glu98Val)
c.224A>T (p.Glu75Val)
6g.18143669T>CCA362838365TPMTc.293A>G (p.Glu98Gly)
c.224A>G (p.Glu75Gly)
6g.18143669T>GCA362838366TPMTc.293A>C (p.Glu98Ala)
c.224A>C (p.Glu75Ala)
6g.18143670C>ACA3650241TPMTc.292G>T (p.Glu98Ter)
c.223G>T (p.Glu75Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.18143670C=CA1613565456TPMTc.292G= (p.Glu98=)
c.223G= (p.Glu75=)
6g.18143670C>GCA362838368TPMTc.292G>C (p.Glu98Gln)
c.223G>C (p.Glu75Gln)
gnomAD v4
6g.18143670C>TCA362838370TPMTc.292G>A (p.Glu98Lys)
c.223G>A (p.Glu75Lys)
6g.18143671T>ACA362838372TPMTc.291A>T (p.Gln97His)
c.222A>T (p.Gln74His)
6g.18143671T>CCA448765783TPMTc.291A>G (p.Gln97=)
c.222A>G (p.Gln74=)
6g.18143671T>GCA362838373TPMTc.291A>C (p.Gln97His)
c.222A>C (p.Gln74His)
6g.18143672delCA2695206033TPMTc.291del (p.Glu98AsnfsTer?)
c.222del (p.Glu75AsnfsTer?)
6g.18143672T>ACA362838380TPMTc.290A>T (p.Gln97Leu)
c.221A>T (p.Gln74Leu)
6g.18143672T>CCA362838378TPMTc.290A>G (p.Gln97Arg)
c.221A>G (p.Gln74Arg)
dbSNP gnomAD v2 gnomAD v4
6g.18143672T>GCA362838375TPMTc.290A>C (p.Gln97Pro)
c.221A>C (p.Gln74Pro)
6g.18143672T=CA1613565461TPMTc.290A= (p.Gln97=)
c.221A= (p.Gln74=)
6g.18143673G>ACA362838382TPMTc.289C>T (p.Gln97Ter)
c.220C>T (p.Gln74Ter)
6g.18143673G>CCA362838384TPMTc.289C>G (p.Gln97Glu)
c.220C>G (p.Gln74Glu)
6g.18143673G>TCA362838385TPMTc.289C>A (p.Gln97Lys)
c.220C>A (p.Gln74Lys)
6g.18143674T>ACA448765785TPMTc.288A>T (p.Ile96=)
c.219A>T (p.Ile73=)
6g.18143674T>CCA362838387TPMTc.288A>G (p.Ile96Met)
c.219A>G (p.Ile73Met)
dbSNP gnomAD v2
6g.18143674T>GCA448765787TPMTc.288A>C (p.Ile96=)
c.219A>C (p.Ile73=)
6g.18143674T=CA1613565464TPMTc.288A= (p.Ile96=)
c.219A= (p.Ile73=)
6g.18143675A>CCA362838388TPMTc.287T>G (p.Ile96Arg)
c.218T>G (p.Ile73Arg)
6g.18143675A>GCA362838389TPMTc.287T>C (p.Ile96Thr)
c.218T>C (p.Ile73Thr)
6g.18143675A>TCA362838391TPMTc.287T>A (p.Ile96Lys)
c.218T>A (p.Ile73Lys)
6g.18143676T>ACA362838393TPMTc.286A>T (p.Ile96Leu)
c.217A>T (p.Ile73Leu)
6g.18143676T>CCA362838394TPMTc.286A>G (p.Ile96Val)
c.217A>G (p.Ile73Val)
gnomAD v4
6g.18143676T>GCA362838395TPMTc.286A>C (p.Ile96Leu)
c.217A>C (p.Ile73Leu)
6g.18143677C>ACA448765790TPMTc.285G>T (p.Gly95=)
c.216G>T (p.Gly72=)
6g.18143677C>GCA448765791TPMTc.285G>C (p.Gly95=)
c.216G>C (p.Gly72=)
6g.18143677C>TCA448765792TPMTc.285G>A (p.Gly95=)
c.216G>A (p.Gly72=)
6g.18143678C>ACA362838397TPMTc.284G>T (p.Gly95Val)
c.215G>T (p.Gly72Val)
6g.18143678C>GCA362838398TPMTc.284G>C (p.Gly95Ala)
c.215G>C (p.Gly72Ala)
6g.18143678C>TCA362838399TPMTc.284G>A (p.Gly95Glu)
c.215G>A (p.Gly72Glu)
6g.18143679C>ACA362838401TPMTc.283G>T (p.Gly95Trp)
c.214G>T (p.Gly72Trp)
6g.18143679C>GCA362838402TPMTc.283G>C (p.Gly95Arg)
c.214G>C (p.Gly72Arg)
6g.18143679C>TCA362838400TPMTc.283G>A (p.Gly95Arg)
c.214G>A (p.Gly72Arg)
6g.18143680A=CA1613565477TPMTc.282T= (p.Leu94=)
c.213T= (p.Leu71=)
6g.18143680A>CCA448765795TPMTc.282T>G (p.Leu94=)
c.213T>G (p.Leu71=)
6g.18143680A>GCA134967673TPMTc.282T>C (p.Leu94=)
c.213T>C (p.Leu71=)
dbSNP gnomAD v4
6g.18143680A>TCA448765796TPMTc.282T>A (p.Leu94=)
c.213T>A (p.Leu71=)
6g.18143680_18143697delinsAAGTTCACTGATTTCCACCA1613565476TPMTc.265_282delinsGTGGAAATCAGTGAACTT (p.Val89=)
c.196_213delinsGTGGAAATCAGTGAACTT (p.Val66=)
6g.18143680_18143681insTCA3650243TPMTc.281_282insA (p.Gly95TrpfsTer28)
c.212_213insA (p.Gly72TrpfsTer28)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143681A>CCA362838404TPMTc.281T>G (p.Leu94Arg)
c.212T>G (p.Leu71Arg)
gnomAD v4
6g.18143681A>GCA362838405TPMTc.281T>C (p.Leu94Pro)
c.212T>C (p.Leu71Pro)
6g.18143681A>TCA362838403TPMTc.281T>A (p.Leu94His)
c.212T>A (p.Leu71His)
6g.18143682_18143698delCA3650242TPMTc.265_281del (p.Val89TrpfsTer28)
c.196_212del (p.Val66TrpfsTer28)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143682G>ACA362838406TPMTc.280C>T (p.Leu94Phe)
c.211C>T (p.Leu71Phe)
COSMIC
6g.18143682G>CCA362838407TPMTc.280C>G (p.Leu94Val)
c.211C>G (p.Leu71Val)
6g.18143682G>TCA362838408TPMTc.280C>A (p.Leu94Ile)
c.211C>A (p.Leu71Ile)
6g.18143683T>ACA362838409TPMTc.279A>T (p.Glu93Asp)
c.210A>T (p.Glu70Asp)
6g.18143683T>CCA448765801TPMTc.279A>G (p.Glu93=)
c.210A>G (p.Glu70=)
6g.18143683T>GCA362838410TPMTc.279A>C (p.Glu93Asp)
c.210A>C (p.Glu70Asp)
6g.18143684T>ACA362838411TPMTc.278A>T (p.Glu93Val)
c.209A>T (p.Glu70Val)
6g.18143684T>CCA362838412TPMTc.278A>G (p.Glu93Gly)
c.209A>G (p.Glu70Gly)
6g.18143684T>GCA362838413TPMTc.278A>C (p.Glu93Ala)
c.209A>C (p.Glu70Ala)
6g.18143685C>ACA362838414TPMTc.277G>T (p.Glu93Ter)
c.208G>T (p.Glu70Ter)
6g.18143685C>GCA362838415TPMTc.277G>C (p.Glu93Gln)
c.208G>C (p.Glu70Gln)
6g.18143685C>TCA362838417TPMTc.277G>A (p.Glu93Lys)
c.208G>A (p.Glu70Lys)
6g.18143686A>CCA362838418TPMTc.276T>G (p.Ser92Arg)
c.207T>G (p.Ser69Arg)
6g.18143686A>GCA448765803TPMTc.276T>C (p.Ser92=)
c.207T>C (p.Ser69=)
6g.18143686A>TCA362838419TPMTc.276T>A (p.Ser92Arg)
c.207T>A (p.Ser69Arg)
6g.18143687C>ACA362838420TPMTc.275G>T (p.Ser92Ile)
c.206G>T (p.Ser69Ile)
6g.18143687C>GCA362838421TPMTc.275G>C (p.Ser92Thr)
c.206G>C (p.Ser69Thr)
6g.18143687C>TCA362838423TPMTc.275G>A (p.Ser92Asn)
c.206G>A (p.Ser69Asn)
gnomAD v4
6g.18143688T>ACA362838424TPMTc.274A>T (p.Ser92Cys)
c.205A>T (p.Ser69Cys)
6g.18143688T>CCA362838426TPMTc.274A>G (p.Ser92Gly)
c.205A>G (p.Ser69Gly)
6g.18143688T>GCA362838427TPMTc.274A>C (p.Ser92Arg)
c.205A>C (p.Ser69Arg)
6g.18143689G>ACA448765807TPMTc.273C>T (p.Ile91=)
c.204C>T (p.Ile68=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18143689G>CCA362838429TPMTc.273C>G (p.Ile91Met)
c.204C>G (p.Ile68Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18143689G=CA1613565488TPMTc.273C= (p.Ile91=)
c.204C= (p.Ile68=)
6g.18143689G>TCA448765809TPMTc.273C>A (p.Ile91=)
c.204C>A (p.Ile68=)
6g.18143690A>CCA362838431TPMTc.272T>G (p.Ile91Ser)
c.203T>G (p.Ile68Ser)
6g.18143690A>GCA362838433TPMTc.272T>C (p.Ile91Thr)
c.203T>C (p.Ile68Thr)
6g.18143690A>TCA362838434TPMTc.272T>A (p.Ile91Asn)
c.203T>A (p.Ile68Asn)
6g.18143691T>ACA362838439TPMTc.271A>T (p.Ile91Phe)
c.202A>T (p.Ile68Phe)
6g.18143691T>CCA362838438TPMTc.271A>G (p.Ile91Val)
c.202A>G (p.Ile68Val)
6g.18143691T>GCA362838437TPMTc.271A>C (p.Ile91Leu)
c.202A>C (p.Ile68Leu)
6g.18143692T>ACA362838440TPMTc.270A>T (p.Glu90Asp)
c.201A>T (p.Glu67Asp)
gnomAD v4
6g.18143692T>CCA448765858TPMTc.270A>G (p.Glu90=)
c.201A>G (p.Glu67=)
6g.18143692T>GCA362838441TPMTc.270A>C (p.Glu90Asp)
c.201A>C (p.Glu67Asp)
6g.18143693T>ACA362838442TPMTc.269A>T (p.Glu90Val)
c.200A>T (p.Glu67Val)
dbSNP
6g.18143693T>CCA362838444TPMTc.269A>G (p.Glu90Gly)
c.200A>G (p.Glu67Gly)
6g.18143693T>GCA362838445TPMTc.269A>C (p.Glu90Ala)
c.200A>C (p.Glu67Ala)
6g.18143693T=CA1613565490TPMTc.269A= (p.Glu90=)
c.200A= (p.Glu67=)
6g.18143694C>ACA362838447TPMTc.268G>T (p.Glu90Ter)
c.199G>T (p.Glu67Ter)
6g.18143694C>GCA362838448TPMTc.268G>C (p.Glu90Gln)
c.199G>C (p.Glu67Gln)
6g.18143694C>TCA362838454TPMTc.268G>A (p.Glu90Lys)
c.199G>A (p.Glu67Lys)
6g.18143695C>ACA448765859TPMTc.267G>T (p.Val89=)
c.198G>T (p.Val66=)
6g.18143695C>GCA448765860TPMTc.267G>C (p.Val89=)
c.198G>C (p.Val66=)
6g.18143695C>TCA448765861TPMTc.267G>A (p.Val89=)
c.198G>A (p.Val66=)
6g.18143696A=CA1613565493TPMTc.266T= (p.Val89=)
c.197T= (p.Val66=)
6g.18143696A>CCA362838456TPMTc.266T>G (p.Val89Gly)
c.197T>G (p.Val66Gly)
6g.18143696A>GCA362838457TPMTc.266T>C (p.Val89Ala)
c.197T>C (p.Val66Ala)
6g.18143696A>TCA362838458TPMTc.266T>A (p.Val89Glu)
c.197T>A (p.Val66Glu)
dbSNP
6g.18143697C>ACA362838463TPMTc.265G>T (p.Val89Leu)
c.196G>T (p.Val66Leu)
6g.18143697C>GCA362838461TPMTc.265G>C (p.Val89Leu)
c.196G>C (p.Val66Leu)
6g.18143697C>TCA362838459TPMTc.265G>A (p.Val89Met)
c.196G>A (p.Val66Met)
6g.18143698A>CCA448765864TPMTc.264T>G (p.Gly88=)
c.195T>G (p.Gly65=)
6g.18143698A>GCA448765865TPMTc.264T>C (p.Gly88=)
c.195T>C (p.Gly65=)
6g.18143698A>TCA448765866TPMTc.264T>A (p.Gly88=)
c.195T>A (p.Gly65=)
6g.18143699C>ACA362838464TPMTc.263G>T (p.Gly88Val)
c.194G>T (p.Gly65Val)
6g.18143699C>GCA362838466TPMTc.263G>C (p.Gly88Ala)
c.194G>C (p.Gly65Ala)
6g.18143699C>TCA362838467TPMTc.263G>A (p.Gly88Asp)
c.194G>A (p.Gly65Asp)
6g.18143700C>ACA3650244TPMTc.262G>T (p.Gly88Cys)
c.193G>T (p.Gly65Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143700C=CA1613565499TPMTc.262G= (p.Gly88=)
c.193G= (p.Gly65=)
6g.18143700C>GCA362838470TPMTc.262G>C (p.Gly88Arg)
c.193G>C (p.Gly65Arg)
6g.18143700C>TCA362838473TPMTc.262G>A (p.Gly88Ser)
c.193G>A (p.Gly65Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18143701A>CCA448765867TPMTc.261T>G (p.Val87=)
c.192T>G (p.Val64=)
6g.18143701A>GCA448765868TPMTc.261T>C (p.Val87=)
c.192T>C (p.Val64=)
6g.18143701A>TCA448765869TPMTc.261T>A (p.Val87=)
c.192T>A (p.Val64=)
6g.18143702A>CCA362838475TPMTc.260T>G (p.Val87Gly)
c.191T>G (p.Val64Gly)
6g.18143702A>GCA362838476TPMTc.260T>C (p.Val87Ala)
c.191T>C (p.Val64Ala)
6g.18143702A>TCA362838478TPMTc.260T>A (p.Val87Asp)
c.191T>A (p.Val64Asp)
6g.18143703C>ACA362838480TPMTc.259G>T (p.Val87Phe)
c.190G>T (p.Val64Phe)
6g.18143703C>GCA362838481TPMTc.259G>C (p.Val87Leu)
c.190G>C (p.Val64Leu)
6g.18143703C>TCA362838483TPMTc.259G>A (p.Val87Ile)
c.190G>A (p.Val64Ile)
6g.18143703_18143704delinsCTCA1613565504TPMTc.258_259delinsAG (p.Val86=)
c.189_190delinsAG (p.Val63=)
6g.18143704delCA3650245TPMTc.258del (p.Val87LeufsTer?)
c.189del (p.Val64LeufsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143704T>ACA448765872TPMTc.258A>T (p.Val86=)
c.189A>T (p.Val63=)
6g.18143704T>CCA448765870TPMTc.258A>G (p.Val86=)
c.189A>G (p.Val63=)
6g.18143704T>GCA448765871TPMTc.258A>C (p.Val86=)
c.189A>C (p.Val63=)
6g.18143705A>CCA362838487TPMTc.257T>G (p.Val86Gly)
c.188T>G (p.Val63Gly)
6g.18143705A>GCA362838489TPMTc.257T>C (p.Val86Ala)
c.188T>C (p.Val63Ala)
6g.18143705A>TCA362838485TPMTc.257T>A (p.Val86Glu)
c.188T>A (p.Val63Glu)
6g.18143706C>ACA362838492TPMTc.256G>T (p.Val86Leu)
c.187G>T (p.Val63Leu)
6g.18143706C>GCA362838491TPMTc.256G>C (p.Val86Leu)
c.187G>C (p.Val63Leu)
6g.18143706C>TCA362838494TPMTc.256G>A (p.Val86Ile)
c.187G>A (p.Val63Ile)
gnomAD v4
6g.18143706_18143707delinsCACA1613565509TPMTc.255_256delinsTG (p.Ser85=)
c.186_187delinsTG (p.Ser62=)
6g.18143707delCA3650246TPMTc.255del (p.Ser85ArgfsTer2)
c.186del (p.Ser62ArgfsTer2)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143707A>CCA362838495TPMTc.255T>G (p.Ser85Arg)
c.186T>G (p.Ser62Arg)
6g.18143707A>GCA448765873TPMTc.255T>C (p.Ser85=)
c.186T>C (p.Ser62=)
gnomAD v4
6g.18143707A>TCA362838498TPMTc.255T>A (p.Ser85Arg)
c.186T>A (p.Ser62Arg)
gnomAD v4
6g.18143708C>ACA362838500TPMTc.254G>T (p.Ser85Ile)
c.185G>T (p.Ser62Ile)
6g.18143708C=CA1613565514TPMTc.254G= (p.Ser85=)
c.185G= (p.Ser62=)
6g.18143708C>GCA362838502TPMTc.254G>C (p.Ser85Thr)
c.185G>C (p.Ser62Thr)
dbSNP gnomAD v3 gnomAD v4
6g.18143708C>TCA362838504TPMTc.254G>A (p.Ser85Asn)
c.185G>A (p.Ser62Asn)
6g.18143709T>ACA362838505TPMTc.253A>T (p.Ser85Cys)
c.184A>T (p.Ser62Cys)
6g.18143709T>CCA134967683TPMTc.253A>G (p.Ser85Gly)
c.184A>G (p.Ser62Gly)
dbSNP
6g.18143709T>GCA362838507TPMTc.253A>C (p.Ser85Arg)
c.184A>C (p.Ser62Arg)
6g.18143709T=CA1613565517TPMTc.253A= (p.Ser85=)
c.184A= (p.Ser62=)
6g.18143710G>ACA448765877TPMTc.252C>T (p.His84=)
c.183C>T (p.His61=)
6g.18143710G>CCA362838508TPMTc.252C>G (p.His84Gln)
c.183C>G (p.His61Gln)
6g.18143710G>TCA362838509TPMTc.252C>A (p.His84Gln)
c.183C>A (p.His61Gln)
6g.18143711T>ACA362838513TPMTc.251A>T (p.His84Leu)
c.182A>T (p.His61Leu)
dbSNP
6g.18143711T>CCA362838512TPMTc.251A>G (p.His84Arg)
c.182A>G (p.His61Arg)
gnomAD v4
6g.18143711T>GCA362838510TPMTc.251A>C (p.His84Pro)
c.182A>C (p.His61Pro)
6g.18143711T=CA1613565522TPMTc.251A= (p.His84=)
c.182A= (p.His61=)
6g.18143712G>ACA362838515TPMTc.250C>T (p.His84Tyr)
c.181C>T (p.His61Tyr)
6g.18143712G>CCA362838516TPMTc.250C>G (p.His84Asp)
c.181C>G (p.His61Asp)
dbSNP gnomAD v2 gnomAD v4
6g.18143712G=CA1613565525TPMTc.250C= (p.His84=)
c.181C= (p.His61=)
6g.18143712G>TCA362838517TPMTc.250C>A (p.His84Asn)
c.181C>A (p.His61Asn)
6g.18143713T>ACA448765878TPMTc.249A>T (p.Gly83=)
c.180A>T (p.Gly60=)
6g.18143713T>CCA448765879TPMTc.249A>G (p.Gly83=)
c.180A>G (p.Gly60=)
6g.18143713T>GCA448765880TPMTc.249A>C (p.Gly83=)
c.180A>C (p.Gly60=)
6g.18143714C>ACA362838518TPMTc.248G>T (p.Gly83Val)
c.179G>T (p.Gly60Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.18143714C=CA1613565529TPMTc.248G= (p.Gly83=)
c.179G= (p.Gly60=)
6g.18143714C>GCA362838519TPMTc.248G>C (p.Gly83Ala)
c.179G>C (p.Gly60Ala)
6g.18143714C>TCA362838520TPMTc.248G>A (p.Gly83Glu)
c.179G>A (p.Gly60Glu)
gnomAD v4
6g.18143715C>ACA362838523TPMTc.247G>T (p.Gly83Ter)
c.178G>T (p.Gly60Ter)
6g.18143715C>GCA362838525TPMTc.247G>C (p.Gly83Arg)
c.178G>C (p.Gly60Arg)
6g.18143715C>TCA362838526TPMTc.247G>A (p.Gly83Arg)
c.178G>A (p.Gly60Arg)
gnomAD v4
6g.18143716C>ACA448765881TPMTc.246G>T (p.Arg82=)
c.177G>T (p.Arg59=)
6g.18143716C>GCA448765882TPMTc.246G>C (p.Arg82=)
c.177G>C (p.Arg59=)
6g.18143716C>TCA448765883TPMTc.246G>A (p.Arg82=)
c.177G>A (p.Arg59=)
6g.18143717C>ACA362838528TPMTc.245G>T (p.Arg82Leu)
c.176G>T (p.Arg59Leu)
COSMIC
6g.18143717C=CA1613565532TPMTc.245G= (p.Arg82=)
c.176G= (p.Arg59=)
6g.18143717C>GCA362838530TPMTc.245G>C (p.Arg82Pro)
c.176G>C (p.Arg59Pro)
gnomAD v4
6g.18143717C>TCA3650247TPMTc.245G>A (p.Arg82Gln)
c.176G>A (p.Arg59Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143718G>ACA3650248TPMTc.244C>T (p.Arg82Trp)
c.175C>T (p.Arg59Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143718G>CCA3650249TPMTc.244C>G (p.Arg82Gly)
c.175C>G (p.Arg59Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18143718G=CA1613565537TPMTc.244C= (p.Arg82=)
c.175C= (p.Arg59=)
6g.18143718G>TCA448765884TPMTc.244C>A (p.Arg82=)
c.175C>A (p.Arg59=)
6g.18143719G>ACA448765885TPMTc.243C>T (p.Asp81=)
c.174C>T (p.Asp58=)
dbSNP gnomAD v2 gnomAD v4
6g.18143719G>CCA362838532TPMTc.243C>G (p.Asp81Glu)
c.174C>G (p.Asp58Glu)
6g.18143719G=CA1613565544TPMTc.243C= (p.Asp81=)
c.174C= (p.Asp58=)
6g.18143719G>TCA362838534TPMTc.243C>A (p.Asp81Glu)
c.174C>A (p.Asp58Glu)
6g.18143720T>ACA362838535TPMTc.242A>T (p.Asp81Val)
c.173A>T (p.Asp58Val)
6g.18143720T>CCA362838536TPMTc.242A>G (p.Asp81Gly)
c.173A>G (p.Asp58Gly)
6g.18143720T>GCA362838537TPMTc.242A>C (p.Asp81Ala)
c.173A>C (p.Asp58Ala)
6g.18143721C>ACA362838538TPMTc.241G>T (p.Asp81Tyr)
c.172G>T (p.Asp58Tyr)
6g.18143721C>GCA362838539TPMTc.241G>C (p.Asp81His)
c.172G>C (p.Asp58His)
6g.18143721C>TCA362838540TPMTc.241G>A (p.Asp81Asn)
c.172G>A (p.Asp58Asn)
6g.18143722T>ACA448765886TPMTc.240A>T (p.Ala80=)
c.171A>T (p.Ala57=)
6g.18143722T>CCA3650250TPMTc.240A>G (p.Ala80=)
c.171A>G (p.Ala57=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18143722T>GCA448765887TPMTc.240A>C (p.Ala80=)
c.171A>C (p.Ala57=)
6g.18143722T=CA1613565550TPMTc.240A= (p.Ala80=)
c.171A= (p.Ala57=)
6g.18143723G>ACA134967693TPMTc.239C>T (p.Ala80Val)
c.170C>T (p.Ala57Val)
dbSNP gnomAD v4
6g.18143723G>CCA362838543TPMTc.239C>G (p.Ala80Gly)
c.170C>G (p.Ala57Gly)
6g.18143723G=CA1613565559TPMTc.239C= (p.Ala80=)
c.170C= (p.Ala57=)
6g.18143723G>TCA362838544TPMTc.239C>A (p.Ala80Glu)
c.170C>A (p.Ala57Glu)
6g.18143724C>ACA362838547TPMTc.238G>T (p.Ala80Ser)
c.169G>T (p.Ala57Ser)
6g.18143724C=CA1613565581TPMTc.238G= (p.Ala80=)
c.169G= (p.Ala57=)
6g.18143724C>GCA122644TPMTc.238G>C (p.Ala80Pro)
c.169G>C (p.Ala57Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.18143724C>TCA362838545TPMTc.238G>A (p.Ala80Thr)
c.169G>A (p.Ala57Thr)

Number of alleles fetched