Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.128401015A>CCA457528542IMPDH1c.396T>G (p.Ala132=)
n.360T>G
c.504T>G (p.Ala168=)
c.151T>G
c.474T>G (p.Ala158=)
c.405T>G (p.Ala135=)
c.250T>G
c.249T>G (p.Ala83=)
c.*250T>G (n.*250T>G)
c.360T>G (p.Ala120=)
c.297T>G (p.Ala99=)
n.673T>G
n.324T>G
c.273T>G (p.Ala91=)
7g.128401015A>GCA457528545IMPDH1c.396T>C (p.Ala132=)
n.360T>C
c.504T>C (p.Ala168=)
c.151T>C
c.474T>C (p.Ala158=)
c.405T>C (p.Ala135=)
c.250T>C
c.249T>C (p.Ala83=)
c.*250T>C (n.*250T>C)
c.360T>C (p.Ala120=)
c.297T>C (p.Ala99=)
n.673T>C
n.324T>C
c.273T>C (p.Ala91=)
7g.128401015A>TCA457528543IMPDH1c.396T>A (p.Ala132=)
n.360T>A
c.504T>A (p.Ala168=)
c.151T>A
c.474T>A (p.Ala158=)
c.405T>A (p.Ala135=)
c.250T>A
c.249T>A (p.Ala83=)
c.*250T>A (n.*250T>A)
c.360T>A (p.Ala120=)
c.297T>A (p.Ala99=)
n.673T>A
n.324T>A
c.273T>A (p.Ala91=)
7g.128401016G>ACA369174281IMPDH1c.395C>T (p.Ala132Val)
n.359C>T
c.503C>T (p.Ala168Val)
c.150C>T
c.473C>T (p.Ala158Val)
c.404C>T (p.Ala135Val)
c.249C>T
c.248C>T (p.Ala83Val)
c.*249C>T (n.*249C>T)
c.359C>T (p.Ala120Val)
c.296C>T (p.Ala99Val)
n.672C>T
n.323C>T
c.272C>T (p.Ala91Val)
7g.128401016G>CCA369174283IMPDH1c.395C>G (p.Ala132Gly)
n.359C>G
c.503C>G (p.Ala168Gly)
c.150C>G
c.473C>G (p.Ala158Gly)
c.404C>G (p.Ala135Gly)
c.249C>G
c.248C>G (p.Ala83Gly)
c.*249C>G (n.*249C>G)
c.359C>G (p.Ala120Gly)
c.296C>G (p.Ala99Gly)
n.672C>G
n.323C>G
c.272C>G (p.Ala91Gly)
7g.128401016G>TCA369174284IMPDH1c.395C>A (p.Ala132Asp)
n.359C>A
c.503C>A (p.Ala168Asp)
c.150C>A
c.473C>A (p.Ala158Asp)
c.404C>A (p.Ala135Asp)
c.249C>A
c.248C>A (p.Ala83Asp)
c.*249C>A (n.*249C>A)
c.359C>A (p.Ala120Asp)
c.296C>A (p.Ala99Asp)
n.672C>A
n.323C>A
c.272C>A (p.Ala91Asp)
7g.128401017C>ACA369174286IMPDH1c.394G>T (p.Ala132Ser)
n.358G>T
c.502G>T (p.Ala168Ser)
c.149G>T
c.472G>T (p.Ala158Ser)
c.403G>T (p.Ala135Ser)
c.248G>T
c.247G>T (p.Ala83Ser)
c.*248G>T (n.*248G>T)
c.358G>T (p.Ala120Ser)
c.295G>T (p.Ala99Ser)
n.671G>T
n.322G>T
c.271G>T (p.Ala91Ser)
7g.128401017C=CA1742334689IMPDH1c.394G= (p.Ala132=)
n.358G=
c.502G= (p.Ala168=)
c.149G=
c.472G= (p.Ala158=)
c.403G= (p.Ala135=)
c.248G=
c.247G= (p.Ala83=)
c.*248G= (n.*248G=)
c.358G= (p.Ala120=)
c.295G= (p.Ala99=)
n.671G=
n.322G=
c.271G= (p.Ala91=)
7g.128401017C>GCA369174288IMPDH1c.394G>C (p.Ala132Pro)
n.358G>C
c.502G>C (p.Ala168Pro)
c.149G>C
c.472G>C (p.Ala158Pro)
c.403G>C (p.Ala135Pro)
c.248G>C
c.247G>C (p.Ala83Pro)
c.*248G>C (n.*248G>C)
c.358G>C (p.Ala120Pro)
c.295G>C (p.Ala99Pro)
n.671G>C
n.322G>C
c.271G>C (p.Ala91Pro)
7g.128401017C>TCA369174289IMPDH1c.394G>A (p.Ala132Thr)
n.358G>A
c.502G>A (p.Ala168Thr)
c.149G>A
c.472G>A (p.Ala158Thr)
c.403G>A (p.Ala135Thr)
c.248G>A
c.247G>A (p.Ala83Thr)
c.*248G>A (n.*248G>A)
c.358G>A (p.Ala120Thr)
c.295G>A (p.Ala99Thr)
n.671G>A
n.322G>A
c.271G>A (p.Ala91Thr)
 dbSNP gnomAD v3 gnomAD v4
7g.128401018C>ACA369174293IMPDH1c.393G>T (p.Met131Ile)
n.357G>T
c.501G>T (p.Met167Ile)
c.148G>T
c.471G>T (p.Met157Ile)
c.402G>T (p.Met134Ile)
c.247G>T
c.246G>T (p.Met82Ile)
c.*247G>T (n.*247G>T)
c.357G>T (p.Met119Ile)
c.294G>T (p.Met98Ile)
n.670G>T
n.321G>T
c.270G>T (p.Met90Ile)
7g.128401018C>GCA369174294IMPDH1c.393G>C (p.Met131Ile)
n.357G>C
c.501G>C (p.Met167Ile)
c.148G>C
c.471G>C (p.Met157Ile)
c.402G>C (p.Met134Ile)
c.247G>C
c.246G>C (p.Met82Ile)
c.*247G>C (n.*247G>C)
c.357G>C (p.Met119Ile)
c.294G>C (p.Met98Ile)
n.670G>C
n.321G>C
c.270G>C (p.Met90Ile)
7g.128401018C>TCA369174291IMPDH1c.393G>A (p.Met131Ile)
n.357G>A
c.501G>A (p.Met167Ile)
c.148G>A
c.471G>A (p.Met157Ile)
c.402G>A (p.Met134Ile)
c.247G>A
c.246G>A (p.Met82Ile)
c.*247G>A (n.*247G>A)
c.357G>A (p.Met119Ile)
c.294G>A (p.Met98Ile)
n.670G>A
n.321G>A
c.270G>A (p.Met90Ile)
7g.128401019A>CCA369174299IMPDH1c.392T>G (p.Met131Arg)
n.356T>G
c.500T>G (p.Met167Arg)
c.147T>G
c.470T>G (p.Met157Arg)
c.401T>G (p.Met134Arg)
c.246T>G
c.245T>G (p.Met82Arg)
c.*246T>G (n.*246T>G)
c.356T>G (p.Met119Arg)
c.293T>G (p.Met98Arg)
n.669T>G
n.320T>G
c.269T>G (p.Met90Arg)
7g.128401019A>GCA369174297IMPDH1c.392T>C (p.Met131Thr)
n.356T>C
c.500T>C (p.Met167Thr)
c.147T>C
c.470T>C (p.Met157Thr)
c.401T>C (p.Met134Thr)
c.246T>C
c.245T>C (p.Met82Thr)
c.*246T>C (n.*246T>C)
c.356T>C (p.Met119Thr)
c.293T>C (p.Met98Thr)
n.669T>C
n.320T>C
c.269T>C (p.Met90Thr)
7g.128401019A>TCA369174298IMPDH1c.392T>A (p.Met131Lys)
n.356T>A
c.500T>A (p.Met167Lys)
c.147T>A
c.470T>A (p.Met157Lys)
c.401T>A (p.Met134Lys)
c.246T>A
c.245T>A (p.Met82Lys)
c.*246T>A (n.*246T>A)
c.356T>A (p.Met119Lys)
c.293T>A (p.Met98Lys)
n.669T>A
n.320T>A
c.269T>A (p.Met90Lys)
7g.128401020T>ACA369174301IMPDH1c.391A>T (p.Met131Leu)
n.355A>T
c.499A>T (p.Met167Leu)
c.146A>T
c.469A>T (p.Met157Leu)
c.400A>T (p.Met134Leu)
c.245A>T
c.244A>T (p.Met82Leu)
c.*245A>T (n.*245A>T)
c.355A>T (p.Met119Leu)
c.292A>T (p.Met98Leu)
n.668A>T
n.319A>T
c.268A>T (p.Met90Leu)
 gnomAD v4
7g.128401020T>CCA369174303IMPDH1c.391A>G (p.Met131Val)
n.355A>G
c.499A>G (p.Met167Val)
c.146A>G
c.469A>G (p.Met157Val)
c.400A>G (p.Met134Val)
c.245A>G
c.244A>G (p.Met82Val)
c.*245A>G (n.*245A>G)
c.355A>G (p.Met119Val)
c.292A>G (p.Met98Val)
n.668A>G
n.319A>G
c.268A>G (p.Met90Val)
 gnomAD v4
7g.128401020T>GCA369174305IMPDH1c.391A>C (p.Met131Leu)
n.355A>C
c.499A>C (p.Met167Leu)
c.146A>C
c.469A>C (p.Met157Leu)
c.400A>C (p.Met134Leu)
c.245A>C
c.244A>C (p.Met82Leu)
c.*245A>C (n.*245A>C)
c.355A>C (p.Met119Leu)
c.292A>C (p.Met98Leu)
n.668A>C
n.319A>C
c.268A>C (p.Met90Leu)
7g.128401021G>ACA457528556IMPDH1c.390C>T (p.Ala130=)
n.354C>T
c.498C>T (p.Ala166=)
c.145C>T
c.468C>T (p.Ala156=)
c.399C>T (p.Ala133=)
c.244C>T
c.243C>T (p.Ala81=)
c.*244C>T (n.*244C>T)
c.354C>T (p.Ala118=)
c.291C>T (p.Ala97=)
n.667C>T
n.318C>T
c.267C>T (p.Ala89=)
7g.128401021G>CCA457528555IMPDH1c.390C>G (p.Ala130=)
n.354C>G
c.498C>G (p.Ala166=)
c.145C>G
c.468C>G (p.Ala156=)
c.399C>G (p.Ala133=)
c.244C>G
c.243C>G (p.Ala81=)
c.*244C>G (n.*244C>G)
c.354C>G (p.Ala118=)
c.291C>G (p.Ala97=)
n.667C>G
n.318C>G
c.267C>G (p.Ala89=)
7g.128401021G>TCA457528554IMPDH1c.390C>A (p.Ala130=)
n.354C>A
c.498C>A (p.Ala166=)
c.145C>A
c.468C>A (p.Ala156=)
c.399C>A (p.Ala133=)
c.244C>A
c.243C>A (p.Ala81=)
c.*244C>A (n.*244C>A)
c.354C>A (p.Ala118=)
c.291C>A (p.Ala97=)
n.667C>A
n.318C>A
c.267C>A (p.Ala89=)
7g.128401022G>ACA369174307IMPDH1c.389C>T (p.Ala130Val)
n.353C>T
c.497C>T (p.Ala166Val)
c.144C>T
c.467C>T (p.Ala156Val)
c.398C>T (p.Ala133Val)
c.243C>T
c.242C>T (p.Ala81Val)
c.*243C>T (n.*243C>T)
c.353C>T (p.Ala118Val)
c.290C>T (p.Ala97Val)
n.666C>T
n.317C>T
c.266C>T (p.Ala89Val)
 dbSNP gnomAD v2 gnomAD v4
7g.128401022G>CCA369174308IMPDH1c.389C>G (p.Ala130Gly)
n.353C>G
c.497C>G (p.Ala166Gly)
c.144C>G
c.467C>G (p.Ala156Gly)
c.398C>G (p.Ala133Gly)
c.243C>G
c.242C>G (p.Ala81Gly)
c.*243C>G (n.*243C>G)
c.353C>G (p.Ala118Gly)
c.290C>G (p.Ala97Gly)
n.666C>G
n.317C>G
c.266C>G (p.Ala89Gly)
7g.128401022G=CA1742334693IMPDH1c.389C= (p.Ala130=)
n.353C=
c.497C= (p.Ala166=)
c.144C=
c.467C= (p.Ala156=)
c.398C= (p.Ala133=)
c.243C=
c.242C= (p.Ala81=)
c.*243C= (n.*243C=)
c.353C= (p.Ala118=)
c.290C= (p.Ala97=)
n.666C=
n.317C=
c.266C= (p.Ala89=)
7g.128401022G>TCA369174311IMPDH1c.389C>A (p.Ala130Asp)
n.353C>A
c.497C>A (p.Ala166Asp)
c.144C>A
c.467C>A (p.Ala156Asp)
c.398C>A (p.Ala133Asp)
c.243C>A
c.242C>A (p.Ala81Asp)
c.*243C>A (n.*243C>A)
c.353C>A (p.Ala118Asp)
c.290C>A (p.Ala97Asp)
n.666C>A
n.317C>A
c.266C>A (p.Ala89Asp)
7g.128401023C>ACA369174313IMPDH1c.388G>T (p.Ala130Ser)
n.352G>T
c.496G>T (p.Ala166Ser)
c.143G>T
c.466G>T (p.Ala156Ser)
c.397G>T (p.Ala133Ser)
c.242G>T
c.241G>T (p.Ala81Ser)
c.*242G>T (n.*242G>T)
c.352G>T (p.Ala118Ser)
c.289G>T (p.Ala97Ser)
n.665G>T
n.316G>T
c.265G>T (p.Ala89Ser)
7g.128401023C>GCA369174314IMPDH1c.388G>C (p.Ala130Pro)
n.352G>C
c.496G>C (p.Ala166Pro)
c.143G>C
c.466G>C (p.Ala156Pro)
c.397G>C (p.Ala133Pro)
c.242G>C
c.241G>C (p.Ala81Pro)
c.*242G>C (n.*242G>C)
c.352G>C (p.Ala118Pro)
c.289G>C (p.Ala97Pro)
n.665G>C
n.316G>C
c.265G>C (p.Ala89Pro)
7g.128401023C>TCA369174316IMPDH1c.388G>A (p.Ala130Thr)
n.352G>A
c.496G>A (p.Ala166Thr)
c.143G>A
c.466G>A (p.Ala156Thr)
c.397G>A (p.Ala133Thr)
c.242G>A
c.241G>A (p.Ala81Thr)
c.*242G>A (n.*242G>A)
c.352G>A (p.Ala118Thr)
c.289G>A (p.Ala97Thr)
n.665G>A
n.316G>A
c.265G>A (p.Ala89Thr)
7g.128401024A>CCA369174317IMPDH1c.387T>G (p.Ile129Met)
n.351T>G
c.495T>G (p.Ile165Met)
c.142T>G
c.465T>G (p.Ile155Met)
c.396T>G (p.Ile132Met)
c.241T>G
c.240T>G (p.Ile80Met)
c.*241T>G (n.*241T>G)
c.351T>G (p.Ile117Met)
c.288T>G (p.Ile96Met)
n.664T>G
n.315T>G
c.264T>G (p.Ile88Met)
7g.128401024A>GCA457528561IMPDH1c.387T>C (p.Ile129=)
n.351T>C
c.495T>C (p.Ile165=)
c.142T>C
c.465T>C (p.Ile155=)
c.396T>C (p.Ile132=)
c.241T>C
c.240T>C (p.Ile80=)
c.*241T>C (n.*241T>C)
c.351T>C (p.Ile117=)
c.288T>C (p.Ile96=)
n.664T>C
n.315T>C
c.264T>C (p.Ile88=)
 gnomAD v4
7g.128401024A>TCA457528560IMPDH1c.387T>A (p.Ile129=)
n.351T>A
c.495T>A (p.Ile165=)
c.142T>A
c.465T>A (p.Ile155=)
c.396T>A (p.Ile132=)
c.241T>A
c.240T>A (p.Ile80=)
c.*241T>A (n.*241T>A)
c.351T>A (p.Ile117=)
c.288T>A (p.Ile96=)
n.664T>A
n.315T>A
c.264T>A (p.Ile88=)
7g.128401025A>CCA369174321IMPDH1c.386T>G (p.Ile129Ser)
n.350T>G
c.494T>G (p.Ile165Ser)
c.141T>G
c.464T>G (p.Ile155Ser)
c.395T>G (p.Ile132Ser)
c.240T>G
c.239T>G (p.Ile80Ser)
c.*240T>G (n.*240T>G)
c.350T>G (p.Ile117Ser)
c.287T>G (p.Ile96Ser)
n.663T>G
n.314T>G
c.263T>G (p.Ile88Ser)
7g.128401025A>GCA369174323IMPDH1c.386T>C (p.Ile129Thr)
n.350T>C
c.494T>C (p.Ile165Thr)
c.141T>C
c.464T>C (p.Ile155Thr)
c.395T>C (p.Ile132Thr)
c.240T>C
c.239T>C (p.Ile80Thr)
c.*240T>C (n.*240T>C)
c.350T>C (p.Ile117Thr)
c.287T>C (p.Ile96Thr)
n.663T>C
n.314T>C
c.263T>C (p.Ile88Thr)
7g.128401025A>TCA369174319IMPDH1c.386T>A (p.Ile129Asn)
n.350T>A
c.494T>A (p.Ile165Asn)
c.141T>A
c.464T>A (p.Ile155Asn)
c.395T>A (p.Ile132Asn)
c.240T>A
c.239T>A (p.Ile80Asn)
c.*240T>A (n.*240T>A)
c.350T>A (p.Ile117Asn)
c.287T>A (p.Ile96Asn)
n.663T>A
n.314T>A
c.263T>A (p.Ile88Asn)
7g.128401026T>ACA369174325IMPDH1c.385A>T (p.Ile129Phe)
n.349A>T
c.493A>T (p.Ile165Phe)
c.140A>T
c.463A>T (p.Ile155Phe)
c.394A>T (p.Ile132Phe)
c.239A>T
c.238A>T (p.Ile80Phe)
c.*239A>T (n.*239A>T)
c.349A>T (p.Ile117Phe)
c.286A>T (p.Ile96Phe)
n.662A>T
n.313A>T
c.262A>T (p.Ile88Phe)
7g.128401026T>CCA369174326IMPDH1c.385A>G (p.Ile129Val)
n.349A>G
c.493A>G (p.Ile165Val)
c.140A>G
c.463A>G (p.Ile155Val)
c.394A>G (p.Ile132Val)
c.239A>G
c.238A>G (p.Ile80Val)
c.*239A>G (n.*239A>G)
c.349A>G (p.Ile117Val)
c.286A>G (p.Ile96Val)
n.662A>G
n.313A>G
c.262A>G (p.Ile88Val)
7g.128401026T>GCA369174328IMPDH1c.385A>C (p.Ile129Leu)
n.349A>C
c.493A>C (p.Ile165Leu)
c.140A>C
c.463A>C (p.Ile155Leu)
c.394A>C (p.Ile132Leu)
c.239A>C
c.238A>C (p.Ile80Leu)
c.*239A>C (n.*239A>C)
c.349A>C (p.Ile117Leu)
c.286A>C (p.Ile96Leu)
n.662A>C
n.313A>C
c.262A>C (p.Ile88Leu)
7g.128401027G>ACA4471149IMPDH1c.384C>T (p.Ala128=)
n.348C>T
c.492C>T (p.Ala164=)
c.139C>T
c.462C>T (p.Ala154=)
c.393C>T (p.Ala131=)
c.238C>T
c.237C>T (p.Ala79=)
c.*238C>T (n.*238C>T)
c.348C>T (p.Ala116=)
c.285C>T (p.Ala95=)
n.661C>T
n.312C>T
c.261C>T (p.Ala87=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401027G>CCA457528566IMPDH1c.384C>G (p.Ala128=)
n.348C>G
c.492C>G (p.Ala164=)
c.139C>G
c.462C>G (p.Ala154=)
c.393C>G (p.Ala131=)
c.238C>G
c.237C>G (p.Ala79=)
c.*238C>G (n.*238C>G)
c.348C>G (p.Ala116=)
c.285C>G (p.Ala95=)
n.661C>G
n.312C>G
c.261C>G (p.Ala87=)
7g.128401027G=CA1742334697IMPDH1c.384C= (p.Ala128=)
n.348C=
c.492C= (p.Ala164=)
c.139C=
c.462C= (p.Ala154=)
c.393C= (p.Ala131=)
c.238C=
c.237C= (p.Ala79=)
c.*238C= (n.*238C=)
c.348C= (p.Ala116=)
c.285C= (p.Ala95=)
n.661C=
n.312C=
c.261C= (p.Ala87=)
7g.128401027G>TCA457528567IMPDH1c.384C>A (p.Ala128=)
n.348C>A
c.492C>A (p.Ala164=)
c.139C>A
c.462C>A (p.Ala154=)
c.393C>A (p.Ala131=)
c.238C>A
c.237C>A (p.Ala79=)
c.*238C>A (n.*238C>A)
c.348C>A (p.Ala116=)
c.285C>A (p.Ala95=)
n.661C>A
n.312C>A
c.261C>A (p.Ala87=)
7g.128401028G>ACA369174335IMPDH1c.383C>T (p.Ala128Val)
n.347C>T
c.491C>T (p.Ala164Val)
c.138C>T
c.461C>T (p.Ala154Val)
c.392C>T (p.Ala131Val)
c.237C>T
c.236C>T (p.Ala79Val)
c.*237C>T (n.*237C>T)
c.347C>T (p.Ala116Val)
c.284C>T (p.Ala95Val)
n.660C>T
n.311C>T
c.260C>T (p.Ala87Val)
 gnomAD v4
7g.128401028G>CCA369174333IMPDH1c.383C>G (p.Ala128Gly)
n.347C>G
c.491C>G (p.Ala164Gly)
c.138C>G
c.461C>G (p.Ala154Gly)
c.392C>G (p.Ala131Gly)
c.237C>G
c.236C>G (p.Ala79Gly)
c.*237C>G (n.*237C>G)
c.347C>G (p.Ala116Gly)
c.284C>G (p.Ala95Gly)
n.660C>G
n.311C>G
c.260C>G (p.Ala87Gly)
7g.128401028G>TCA369174331IMPDH1c.383C>A (p.Ala128Asp)
n.347C>A
c.491C>A (p.Ala164Asp)
c.138C>A
c.461C>A (p.Ala154Asp)
c.392C>A (p.Ala131Asp)
c.237C>A
c.236C>A (p.Ala79Asp)
c.*237C>A (n.*237C>A)
c.347C>A (p.Ala116Asp)
c.284C>A (p.Ala95Asp)
n.660C>A
n.311C>A
c.260C>A (p.Ala87Asp)
7g.128401029C>ACA369174337IMPDH1c.382G>T (p.Ala128Ser)
n.346G>T
c.490G>T (p.Ala164Ser)
c.137G>T
c.460G>T (p.Ala154Ser)
c.391G>T (p.Ala131Ser)
c.236G>T
c.235G>T (p.Ala79Ser)
c.*236G>T (n.*236G>T)
c.346G>T (p.Ala116Ser)
c.283G>T (p.Ala95Ser)
n.659G>T
n.310G>T
c.259G>T (p.Ala87Ser)
7g.128401029C>GCA369174339IMPDH1c.382G>C (p.Ala128Pro)
n.346G>C
c.490G>C (p.Ala164Pro)
c.137G>C
c.460G>C (p.Ala154Pro)
c.391G>C (p.Ala131Pro)
c.236G>C
c.235G>C (p.Ala79Pro)
c.*236G>C (n.*236G>C)
c.346G>C (p.Ala116Pro)
c.283G>C (p.Ala95Pro)
n.659G>C
n.310G>C
c.259G>C (p.Ala87Pro)
7g.128401029C>TCA369174341IMPDH1c.382G>A (p.Ala128Thr)
n.346G>A
c.490G>A (p.Ala164Thr)
c.137G>A
c.460G>A (p.Ala154Thr)
c.391G>A (p.Ala131Thr)
c.236G>A
c.235G>A (p.Ala79Thr)
c.*236G>A (n.*236G>A)
c.346G>A (p.Ala116Thr)
c.283G>A (p.Ala95Thr)
n.659G>A
n.310G>A
c.259G>A (p.Ala87Thr)
7g.128401030C>ACA369174343IMPDH1c.381G>T (p.Met127Ile)
n.345G>T
c.489G>T (p.Met163Ile)
c.136G>T
c.459G>T (p.Met153Ile)
c.390G>T (p.Met130Ile)
c.235G>T
c.234G>T (p.Met78Ile)
c.*235G>T (n.*235G>T)
c.345G>T (p.Met115Ile)
c.282G>T (p.Met94Ile)
n.658G>T
n.309G>T
c.258G>T (p.Met86Ile)
 COSMIC COSMIC
7g.128401030C>GCA369174345IMPDH1c.381G>C (p.Met127Ile)
n.345G>C
c.489G>C (p.Met163Ile)
c.136G>C
c.459G>C (p.Met153Ile)
c.390G>C (p.Met130Ile)
c.235G>C
c.234G>C (p.Met78Ile)
c.*235G>C (n.*235G>C)
c.345G>C (p.Met115Ile)
c.282G>C (p.Met94Ile)
n.658G>C
n.309G>C
c.258G>C (p.Met86Ile)
7g.128401030C>TCA369174346IMPDH1c.381G>A (p.Met127Ile)
n.345G>A
c.489G>A (p.Met163Ile)
c.136G>A
c.459G>A (p.Met153Ile)
c.390G>A (p.Met130Ile)
c.235G>A
c.234G>A (p.Met78Ile)
c.*235G>A (n.*235G>A)
c.345G>A (p.Met115Ile)
c.282G>A (p.Met94Ile)
n.658G>A
n.309G>A
c.258G>A (p.Met86Ile)
7g.128401031A=CA1742334702IMPDH1c.380T= (p.Met127=)
n.344T=
c.488T= (p.Met163=)
c.135T=
c.458T= (p.Met153=)
c.389T= (p.Met130=)
c.234T=
c.233T= (p.Met78=)
c.*234T= (n.*234T=)
c.344T= (p.Met115=)
c.281T= (p.Met94=)
n.657T=
n.308T=
c.257T= (p.Met86=)
7g.128401031A>CCA369174352IMPDH1c.380T>G (p.Met127Arg)
n.344T>G
c.488T>G (p.Met163Arg)
c.135T>G
c.458T>G (p.Met153Arg)
c.389T>G (p.Met130Arg)
c.234T>G
c.233T>G (p.Met78Arg)
c.*234T>G (n.*234T>G)
c.344T>G (p.Met115Arg)
c.281T>G (p.Met94Arg)
n.657T>G
n.308T>G
c.257T>G (p.Met86Arg)
7g.128401031A>GCA369174350IMPDH1c.380T>C (p.Met127Thr)
n.344T>C
c.488T>C (p.Met163Thr)
c.135T>C
c.458T>C (p.Met153Thr)
c.389T>C (p.Met130Thr)
c.234T>C
c.233T>C (p.Met78Thr)
c.*234T>C (n.*234T>C)
c.344T>C (p.Met115Thr)
c.281T>C (p.Met94Thr)
n.657T>C
n.308T>C
c.257T>C (p.Met86Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128401031A>TCA369174349IMPDH1c.380T>A (p.Met127Lys)
n.344T>A
c.488T>A (p.Met163Lys)
c.135T>A
c.458T>A (p.Met153Lys)
c.389T>A (p.Met130Lys)
c.234T>A
c.233T>A (p.Met78Lys)
c.*234T>A (n.*234T>A)
c.344T>A (p.Met115Lys)
c.281T>A (p.Met94Lys)
n.657T>A
n.308T>A
c.257T>A (p.Met86Lys)
7g.128401032T>ACA369174354IMPDH1c.379A>T (p.Met127Leu)
n.343A>T
c.487A>T (p.Met163Leu)
c.134A>T
c.457A>T (p.Met153Leu)
c.388A>T (p.Met130Leu)
c.233A>T
c.232A>T (p.Met78Leu)
c.*233A>T (n.*233A>T)
c.343A>T (p.Met115Leu)
c.280A>T (p.Met94Leu)
n.656A>T
n.307A>T
c.256A>T (p.Met86Leu)
7g.128401032T>CCA369174356IMPDH1c.379A>G (p.Met127Val)
n.343A>G
c.487A>G (p.Met163Val)
c.134A>G
c.457A>G (p.Met153Val)
c.388A>G (p.Met130Val)
c.233A>G
c.232A>G (p.Met78Val)
c.*233A>G (n.*233A>G)
c.343A>G (p.Met115Val)
c.280A>G (p.Met94Val)
n.656A>G
n.307A>G
c.256A>G (p.Met86Val)
 dbSNP gnomAD v4
7g.128401032T>GCA4471150IMPDH1c.379A>C (p.Met127Leu)
n.343A>C
c.487A>C (p.Met163Leu)
c.134A>C
c.457A>C (p.Met153Leu)
c.388A>C (p.Met130Leu)
c.233A>C
c.232A>C (p.Met78Leu)
c.*233A>C (n.*233A>C)
c.343A>C (p.Met115Leu)
c.280A>C (p.Met94Leu)
n.656A>C
n.307A>C
c.256A>C (p.Met86Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401032T=CA1742334706IMPDH1c.379A= (p.Met127=)
n.343A=
c.487A= (p.Met163=)
c.134A=
c.457A= (p.Met153=)
c.388A= (p.Met130=)
c.233A=
c.232A= (p.Met78=)
c.*233A= (n.*233A=)
c.343A= (p.Met115=)
c.280A= (p.Met94=)
n.656A=
n.307A=
c.256A= (p.Met86=)
7g.128401033G>ACA457528574IMPDH1c.378C>T (p.Asp126=)
n.342C>T
c.486C>T (p.Asp162=)
c.133C>T
c.456C>T (p.Asp152=)
c.387C>T (p.Asp129=)
c.232C>T
c.231C>T (p.Asp77=)
c.*232C>T (n.*232C>T)
c.342C>T (p.Asp114=)
c.279C>T (p.Asp93=)
n.655C>T
n.306C>T
c.255C>T (p.Asp85=)
 dbSNP gnomAD v2 gnomAD v4
7g.128401033G>CCA369174358IMPDH1c.378C>G (p.Asp126Glu)
n.342C>G
c.486C>G (p.Asp162Glu)
c.133C>G
c.456C>G (p.Asp152Glu)
c.387C>G (p.Asp129Glu)
c.232C>G
c.231C>G (p.Asp77Glu)
c.*232C>G (n.*232C>G)
c.342C>G (p.Asp114Glu)
c.279C>G (p.Asp93Glu)
n.655C>G
n.306C>G
c.255C>G (p.Asp85Glu)
7g.128401033G=CA1742334713IMPDH1c.378C= (p.Asp126=)
n.342C=
c.486C= (p.Asp162=)
c.133C=
c.456C= (p.Asp152=)
c.387C= (p.Asp129=)
c.232C=
c.231C= (p.Asp77=)
c.*232C= (n.*232C=)
c.342C= (p.Asp114=)
c.279C= (p.Asp93=)
n.655C=
n.306C=
c.255C= (p.Asp85=)
7g.128401033G>TCA369174360IMPDH1c.378C>A (p.Asp126Glu)
n.342C>A
c.486C>A (p.Asp162Glu)
c.133C>A
c.456C>A (p.Asp152Glu)
c.387C>A (p.Asp129Glu)
c.232C>A
c.231C>A (p.Asp77Glu)
c.*232C>A (n.*232C>A)
c.342C>A (p.Asp114Glu)
c.279C>A (p.Asp93Glu)
n.655C>A
n.306C>A
c.255C>A (p.Asp85Glu)
7g.128401034T>ACA369174367IMPDH1c.377A>T (p.Asp126Val)
n.341A>T
c.485A>T (p.Asp162Val)
c.132A>T
c.455A>T (p.Asp152Val)
c.386A>T (p.Asp129Val)
c.231A>T
c.230A>T (p.Asp77Val)
c.*231A>T (n.*231A>T)
c.341A>T (p.Asp114Val)
c.278A>T (p.Asp93Val)
n.654A>T
n.305A>T
c.254A>T (p.Asp85Val)
7g.128401034T>CCA369174365IMPDH1c.377A>G (p.Asp126Gly)
n.341A>G
c.485A>G (p.Asp162Gly)
c.132A>G
c.455A>G (p.Asp152Gly)
c.386A>G (p.Asp129Gly)
c.231A>G
c.230A>G (p.Asp77Gly)
c.*231A>G (n.*231A>G)
c.341A>G (p.Asp114Gly)
c.278A>G (p.Asp93Gly)
n.654A>G
n.305A>G
c.254A>G (p.Asp85Gly)
7g.128401034T>GCA369174363IMPDH1c.377A>C (p.Asp126Ala)
n.341A>C
c.485A>C (p.Asp162Ala)
c.132A>C
c.455A>C (p.Asp152Ala)
c.386A>C (p.Asp129Ala)
c.231A>C
c.230A>C (p.Asp77Ala)
c.*231A>C (n.*231A>C)
c.341A>C (p.Asp114Ala)
c.278A>C (p.Asp93Ala)
n.654A>C
n.305A>C
c.254A>C (p.Asp85Ala)
7g.128401035C>ACA369174369IMPDH1c.376G>T (p.Asp126Tyr)
n.340G>T
c.484G>T (p.Asp162Tyr)
c.131G>T
c.454G>T (p.Asp152Tyr)
c.385G>T (p.Asp129Tyr)
c.230G>T
c.229G>T (p.Asp77Tyr)
c.*230G>T (n.*230G>T)
c.340G>T (p.Asp114Tyr)
c.277G>T (p.Asp93Tyr)
n.653G>T
n.304G>T
c.253G>T (p.Asp85Tyr)
 COSMIC
7g.128401035C=CA1742334720IMPDH1c.376G= (p.Asp126=)
n.340G=
c.484G= (p.Asp162=)
c.131G=
c.454G= (p.Asp152=)
c.385G= (p.Asp129=)
c.230G=
c.229G= (p.Asp77=)
c.*230G= (n.*230G=)
c.340G= (p.Asp114=)
c.277G= (p.Asp93=)
n.653G=
n.304G=
c.253G= (p.Asp85=)
7g.128401035C>GCA369174371IMPDH1c.376G>C (p.Asp126His)
n.340G>C
c.484G>C (p.Asp162His)
c.131G>C
c.454G>C (p.Asp152His)
c.385G>C (p.Asp129His)
c.230G>C
c.229G>C (p.Asp77His)
c.*230G>C (n.*230G>C)
c.340G>C (p.Asp114His)
c.277G>C (p.Asp93His)
n.653G>C
n.304G>C
c.253G>C (p.Asp85His)
7g.128401035C>TCA369174373IMPDH1c.376G>A (p.Asp126Asn)
n.340G>A
c.484G>A (p.Asp162Asn)
c.131G>A
c.454G>A (p.Asp152Asn)
c.385G>A (p.Asp129Asn)
c.230G>A
c.229G>A (p.Asp77Asn)
c.*230G>A (n.*230G>A)
c.340G>A (p.Asp114Asn)
c.277G>A (p.Asp93Asn)
n.653G>A
n.304G>A
c.253G>A (p.Asp85Asn)
 ClinVar dbSNP gnomAD v4
7g.128401036A>CCA457528578IMPDH1c.375T>G (p.Ala125=)
n.339T>G
c.483T>G (p.Ala161=)
c.130T>G
c.453T>G (p.Ala151=)
c.384T>G (p.Ala128=)
c.229T>G
c.228T>G (p.Ala76=)
c.*229T>G (n.*229T>G)
c.339T>G (p.Ala113=)
c.276T>G (p.Ala92=)
n.652T>G
n.303T>G
c.252T>G (p.Ala84=)
7g.128401036A>GCA457528580IMPDH1c.375T>C (p.Ala125=)
n.339T>C
c.483T>C (p.Ala161=)
c.130T>C
c.453T>C (p.Ala151=)
c.384T>C (p.Ala128=)
c.229T>C
c.228T>C (p.Ala76=)
c.*229T>C (n.*229T>C)
c.339T>C (p.Ala113=)
c.276T>C (p.Ala92=)
n.652T>C
n.303T>C
c.252T>C (p.Ala84=)
7g.128401036A>TCA457528581IMPDH1c.375T>A (p.Ala125=)
n.339T>A
c.483T>A (p.Ala161=)
c.130T>A
c.453T>A (p.Ala151=)
c.384T>A (p.Ala128=)
c.229T>A
c.228T>A (p.Ala76=)
c.*229T>A (n.*229T>A)
c.339T>A (p.Ala113=)
c.276T>A (p.Ala92=)
n.652T>A
n.303T>A
c.252T>A (p.Ala84=)
7g.128401037G>ACA369174375IMPDH1c.374C>T (p.Ala125Val)
n.338C>T
c.482C>T (p.Ala161Val)
c.129C>T
c.452C>T (p.Ala151Val)
c.383C>T (p.Ala128Val)
c.228C>T
c.227C>T (p.Ala76Val)
c.*228C>T (n.*228C>T)
c.338C>T (p.Ala113Val)
c.275C>T (p.Ala92Val)
n.651C>T
n.302C>T
c.251C>T (p.Ala84Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.128401037G>CCA369174377IMPDH1c.374C>G (p.Ala125Gly)
n.338C>G
c.482C>G (p.Ala161Gly)
c.129C>G
c.452C>G (p.Ala151Gly)
c.383C>G (p.Ala128Gly)
c.228C>G
c.227C>G (p.Ala76Gly)
c.*228C>G (n.*228C>G)
c.338C>G (p.Ala113Gly)
c.275C>G (p.Ala92Gly)
n.651C>G
n.302C>G
c.251C>G (p.Ala84Gly)
7g.128401037G=CA1742334723IMPDH1c.374C= (p.Ala125=)
n.338C=
c.482C= (p.Ala161=)
c.129C=
c.452C= (p.Ala151=)
c.383C= (p.Ala128=)
c.228C=
c.227C= (p.Ala76=)
c.*228C= (n.*228C=)
c.338C= (p.Ala113=)
c.275C= (p.Ala92=)
n.651C=
n.302C=
c.251C= (p.Ala84=)
7g.128401037G>TCA369174379IMPDH1c.374C>A (p.Ala125Asp)
n.338C>A
c.482C>A (p.Ala161Asp)
c.129C>A
c.452C>A (p.Ala151Asp)
c.383C>A (p.Ala128Asp)
c.228C>A
c.227C>A (p.Ala76Asp)
c.*228C>A (n.*228C>A)
c.338C>A (p.Ala113Asp)
c.275C>A (p.Ala92Asp)
n.651C>A
n.302C>A
c.251C>A (p.Ala84Asp)
7g.128401038C>ACA369174380IMPDH1c.373G>T (p.Ala125Ser)
n.337G>T
c.481G>T (p.Ala161Ser)
c.128G>T
c.451G>T (p.Ala151Ser)
c.382G>T (p.Ala128Ser)
c.227G>T
c.226G>T (p.Ala76Ser)
c.*227G>T (n.*227G>T)
c.337G>T (p.Ala113Ser)
c.274G>T (p.Ala92Ser)
n.650G>T
n.301G>T
c.250G>T (p.Ala84Ser)
7g.128401038C>GCA369174384IMPDH1c.373G>C (p.Ala125Pro)
n.337G>C
c.481G>C (p.Ala161Pro)
c.128G>C
c.451G>C (p.Ala151Pro)
c.382G>C (p.Ala128Pro)
c.227G>C
c.226G>C (p.Ala76Pro)
c.*227G>C (n.*227G>C)
c.337G>C (p.Ala113Pro)
c.274G>C (p.Ala92Pro)
n.650G>C
n.301G>C
c.250G>C (p.Ala84Pro)
7g.128401038C>TCA369174382IMPDH1c.373G>A (p.Ala125Thr)
n.337G>A
c.481G>A (p.Ala161Thr)
c.128G>A
c.451G>A (p.Ala151Thr)
c.382G>A (p.Ala128Thr)
c.227G>A
c.226G>A (p.Ala76Thr)
c.*227G>A (n.*227G>A)
c.337G>A (p.Ala113Thr)
c.274G>A (p.Ala92Thr)
n.650G>A
n.301G>A
c.250G>A (p.Ala84Thr)
7g.128401039C>ACA369174386IMPDH1c.372G>T (p.Glu124Asp)
n.336G>T
c.480G>T (p.Glu160Asp)
c.127G>T
c.450G>T (p.Glu150Asp)
c.381G>T (p.Glu127Asp)
c.226G>T
c.225G>T (p.Glu75Asp)
c.*226G>T (n.*226G>T)
c.336G>T (p.Glu112Asp)
c.273G>T (p.Glu91Asp)
n.649G>T
n.300G>T
c.249G>T (p.Glu83Asp)
7g.128401039C=CA1742334729IMPDH1c.372G= (p.Glu124=)
n.336G=
c.480G= (p.Glu160=)
c.127G=
c.450G= (p.Glu150=)
c.381G= (p.Glu127=)
c.226G=
c.225G= (p.Glu75=)
c.*226G= (n.*226G=)
c.336G= (p.Glu112=)
c.273G= (p.Glu91=)
n.649G=
n.300G=
c.249G= (p.Glu83=)
7g.128401039C>GCA369174387IMPDH1c.372G>C (p.Glu124Asp)
n.336G>C
c.480G>C (p.Glu160Asp)
c.127G>C
c.450G>C (p.Glu150Asp)
c.381G>C (p.Glu127Asp)
c.226G>C
c.225G>C (p.Glu75Asp)
c.*226G>C (n.*226G>C)
c.336G>C (p.Glu112Asp)
c.273G>C (p.Glu91Asp)
n.649G>C
n.300G>C
c.249G>C (p.Glu83Asp)
7g.128401039C>TCA457528584IMPDH1c.372G>A (p.Glu124=)
n.336G>A
c.480G>A (p.Glu160=)
c.127G>A
c.450G>A (p.Glu150=)
c.381G>A (p.Glu127=)
c.226G>A
c.225G>A (p.Glu75=)
c.*226G>A (n.*226G>A)
c.336G>A (p.Glu112=)
c.273G>A (p.Glu91=)
n.649G>A
n.300G>A
c.249G>A (p.Glu83=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128401040T>ACA369174390IMPDH1c.371A>T (p.Glu124Val)
n.335A>T
c.479A>T (p.Glu160Val)
c.126A>T
c.449A>T (p.Glu150Val)
c.380A>T (p.Glu127Val)
c.225A>T
c.224A>T (p.Glu75Val)
c.*225A>T (n.*225A>T)
c.335A>T (p.Glu112Val)
c.272A>T (p.Glu91Val)
n.648A>T
n.299A>T
c.248A>T (p.Glu83Val)
7g.128401040T>CCA369174392IMPDH1c.371A>G (p.Glu124Gly)
n.335A>G
c.479A>G (p.Glu160Gly)
c.126A>G
c.449A>G (p.Glu150Gly)
c.380A>G (p.Glu127Gly)
c.225A>G
c.224A>G (p.Glu75Gly)
c.*225A>G (n.*225A>G)
c.335A>G (p.Glu112Gly)
c.272A>G (p.Glu91Gly)
n.648A>G
n.299A>G
c.248A>G (p.Glu83Gly)
7g.128401040T>GCA369174393IMPDH1c.371A>C (p.Glu124Ala)
n.335A>C
c.479A>C (p.Glu160Ala)
c.126A>C
c.449A>C (p.Glu150Ala)
c.380A>C (p.Glu127Ala)
c.225A>C
c.224A>C (p.Glu75Ala)
c.*225A>C (n.*225A>C)
c.335A>C (p.Glu112Ala)
c.272A>C (p.Glu91Ala)
n.648A>C
n.299A>C
c.248A>C (p.Glu83Ala)
7g.128401041C>ACA369174395IMPDH1c.370G>T (p.Glu124Ter)
n.334G>T
c.478G>T (p.Glu160Ter)
c.125G>T
c.448G>T (p.Glu150Ter)
c.379G>T (p.Glu127Ter)
c.224G>T
c.223G>T (p.Glu75Ter)
c.*224G>T (n.*224G>T)
c.334G>T (p.Glu112Ter)
c.271G>T (p.Glu91Ter)
n.647G>T
n.298G>T
c.247G>T (p.Glu83Ter)
7g.128401041C>GCA369174396IMPDH1c.370G>C (p.Glu124Gln)
n.334G>C
c.478G>C (p.Glu160Gln)
c.125G>C
c.448G>C (p.Glu150Gln)
c.379G>C (p.Glu127Gln)
c.224G>C
c.223G>C (p.Glu75Gln)
c.*224G>C (n.*224G>C)
c.334G>C (p.Glu112Gln)
c.271G>C (p.Glu91Gln)
n.647G>C
n.298G>C
c.247G>C (p.Glu83Gln)
7g.128401041C>TCA369174398IMPDH1c.370G>A (p.Glu124Lys)
n.334G>A
c.478G>A (p.Glu160Lys)
c.125G>A
c.448G>A (p.Glu150Lys)
c.379G>A (p.Glu127Lys)
c.224G>A
c.223G>A (p.Glu75Lys)
c.*224G>A (n.*224G>A)
c.334G>A (p.Glu112Lys)
c.271G>A (p.Glu91Lys)
n.647G>A
n.298G>A
c.247G>A (p.Glu83Lys)
7g.128401042T>ACA457528586IMPDH1c.369A>T (p.Thr123=)
n.333A>T
c.477A>T (p.Thr159=)
c.124A>T
c.447A>T (p.Thr149=)
c.378A>T (p.Thr126=)
c.223A>T
c.222A>T (p.Thr74=)
c.*223A>T (n.*223A>T)
c.333A>T (p.Thr111=)
c.270A>T (p.Thr90=)
n.646A>T
n.297A>T
c.246A>T (p.Thr82=)
7g.128401042T>CCA457528587IMPDH1c.369A>G (p.Thr123=)
n.333A>G
c.477A>G (p.Thr159=)
c.124A>G
c.447A>G (p.Thr149=)
c.378A>G (p.Thr126=)
c.223A>G
c.222A>G (p.Thr74=)
c.*223A>G (n.*223A>G)
c.333A>G (p.Thr111=)
c.270A>G (p.Thr90=)
n.646A>G
n.297A>G
c.246A>G (p.Thr82=)
 gnomAD v4
7g.128401042T>GCA457528588IMPDH1c.369A>C (p.Thr123=)
n.333A>C
c.477A>C (p.Thr159=)
c.124A>C
c.447A>C (p.Thr149=)
c.378A>C (p.Thr126=)
c.223A>C
c.222A>C (p.Thr74=)
c.*223A>C (n.*223A>C)
c.333A>C (p.Thr111=)
c.270A>C (p.Thr90=)
n.646A>C
n.297A>C
c.246A>C (p.Thr82=)
7g.128401043G>ACA369174400IMPDH1c.368C>T (p.Thr123Ile)
n.332C>T
c.476C>T (p.Thr159Ile)
c.123C>T
c.446C>T (p.Thr149Ile)
c.377C>T (p.Thr126Ile)
c.222C>T
c.221C>T (p.Thr74Ile)
c.*222C>T (n.*222C>T)
c.332C>T (p.Thr111Ile)
c.269C>T (p.Thr90Ile)
n.645C>T
n.296C>T
c.245C>T (p.Thr82Ile)
7g.128401043G>CCA369174402IMPDH1c.368C>G (p.Thr123Arg)
n.332C>G
c.476C>G (p.Thr159Arg)
c.123C>G
c.446C>G (p.Thr149Arg)
c.377C>G (p.Thr126Arg)
c.222C>G
c.221C>G (p.Thr74Arg)
c.*222C>G (n.*222C>G)
c.332C>G (p.Thr111Arg)
c.269C>G (p.Thr90Arg)
n.645C>G
n.296C>G
c.245C>G (p.Thr82Arg)
7g.128401043G>TCA369174404IMPDH1c.368C>A (p.Thr123Lys)
n.332C>A
c.476C>A (p.Thr159Lys)
c.123C>A
c.446C>A (p.Thr149Lys)
c.377C>A (p.Thr126Lys)
c.222C>A
c.221C>A (p.Thr74Lys)
c.*222C>A (n.*222C>A)
c.332C>A (p.Thr111Lys)
c.269C>A (p.Thr90Lys)
n.645C>A
n.296C>A
c.245C>A (p.Thr82Lys)
 gnomAD v4
7g.128401044T>ACA369174410IMPDH1c.367A>T (p.Thr123Ser)
n.331A>T
c.475A>T (p.Thr159Ser)
c.122A>T
c.445A>T (p.Thr149Ser)
c.376A>T (p.Thr126Ser)
c.221A>T
c.220A>T (p.Thr74Ser)
c.*221A>T (n.*221A>T)
c.331A>T (p.Thr111Ser)
c.268A>T (p.Thr90Ser)
n.644A>T
n.295A>T
c.244A>T (p.Thr82Ser)
7g.128401044T>CCA369174408IMPDH1c.367A>G (p.Thr123Ala)
n.331A>G
c.475A>G (p.Thr159Ala)
c.122A>G
c.445A>G (p.Thr149Ala)
c.376A>G (p.Thr126Ala)
c.221A>G
c.220A>G (p.Thr74Ala)
c.*221A>G (n.*221A>G)
c.331A>G (p.Thr111Ala)
c.268A>G (p.Thr90Ala)
n.644A>G
n.295A>G
c.244A>G (p.Thr82Ala)
 gnomAD v4
7g.128401044T>GCA369174406IMPDH1c.367A>C (p.Thr123Pro)
n.331A>C
c.475A>C (p.Thr159Pro)
c.122A>C
c.445A>C (p.Thr149Pro)
c.376A>C (p.Thr126Pro)
c.221A>C
c.220A>C (p.Thr74Pro)
c.*221A>C (n.*221A>C)
c.331A>C (p.Thr111Pro)
c.268A>C (p.Thr90Pro)
n.644A>C
n.295A>C
c.244A>C (p.Thr82Pro)
7g.128401045C>ACA457528589IMPDH1c.366G>T (p.Val122=)
n.330G>T
c.474G>T (p.Val158=)
c.121G>T
c.444G>T (p.Val148=)
c.375G>T (p.Val125=)
c.220G>T
c.219G>T (p.Val73=)
c.*220G>T (n.*220G>T)
c.330G>T (p.Val110=)
c.267G>T (p.Val89=)
n.643G>T
n.294G>T
c.243G>T (p.Val81=)
7g.128401045C>GCA457528591IMPDH1c.366G>C (p.Val122=)
n.330G>C
c.474G>C (p.Val158=)
c.121G>C
c.444G>C (p.Val148=)
c.375G>C (p.Val125=)
c.220G>C
c.219G>C (p.Val73=)
c.*220G>C (n.*220G>C)
c.330G>C (p.Val110=)
c.267G>C (p.Val89=)
n.643G>C
n.294G>C
c.243G>C (p.Val81=)
7g.128401045C>TCA457528590IMPDH1c.366G>A (p.Val122=)
n.330G>A
c.474G>A (p.Val158=)
c.121G>A
c.444G>A (p.Val148=)
c.375G>A (p.Val125=)
c.220G>A
c.219G>A (p.Val73=)
c.*220G>A (n.*220G>A)
c.330G>A (p.Val110=)
c.267G>A (p.Val89=)
n.643G>A
n.294G>A
c.243G>A (p.Val81=)
7g.128401047_128401048delCA2684778684IMPDH1c.365_366del (p.Val122AspfsTer4)
n.329_330del
c.473_474del (p.Val158AspfsTer4)
c.120_121del
c.443_444del (p.Val148AspfsTer4)
c.374_375del (p.Val125AspfsTer4)
c.219_220del
c.218_219del (p.Val73AspfsTer4)
c.*219_*220del (n.*219_*220del)
c.329_330del (p.Val110AspfsTer4)
c.266_267del (p.Val89AspfsTer4)
n.642_643del
n.293_294del
c.242_243del (p.Val81AspfsTer4)
 gnomAD v4
7g.128401046A>CCA369174412IMPDH1c.365T>G (p.Val122Gly)
n.329T>G
c.473T>G (p.Val158Gly)
c.120T>G
c.443T>G (p.Val148Gly)
c.374T>G (p.Val125Gly)
c.219T>G
c.218T>G (p.Val73Gly)
c.*219T>G (n.*219T>G)
c.329T>G (p.Val110Gly)
c.266T>G (p.Val89Gly)
n.642T>G
n.293T>G
c.242T>G (p.Val81Gly)
7g.128401046A>GCA369174415IMPDH1c.365T>C (p.Val122Ala)
n.329T>C
c.473T>C (p.Val158Ala)
c.120T>C
c.443T>C (p.Val148Ala)
c.374T>C (p.Val125Ala)
c.219T>C
c.218T>C (p.Val73Ala)
c.*219T>C (n.*219T>C)
c.329T>C (p.Val110Ala)
c.266T>C (p.Val89Ala)
n.642T>C
n.293T>C
c.242T>C (p.Val81Ala)
 gnomAD v4
7g.128401046A>TCA369174414IMPDH1c.365T>A (p.Val122Glu)
n.329T>A
c.473T>A (p.Val158Glu)
c.120T>A
c.443T>A (p.Val148Glu)
c.374T>A (p.Val125Glu)
c.219T>A
c.218T>A (p.Val73Glu)
c.*219T>A (n.*219T>A)
c.329T>A (p.Val110Glu)
c.266T>A (p.Val89Glu)
n.642T>A
n.293T>A
c.242T>A (p.Val81Glu)
7g.128401047C>ACA369174417IMPDH1c.364G>T (p.Val122Leu)
n.328G>T
c.472G>T (p.Val158Leu)
c.119G>T
c.442G>T (p.Val148Leu)
c.373G>T (p.Val125Leu)
c.218G>T
c.217G>T (p.Val73Leu)
c.*218G>T (n.*218G>T)
c.328G>T (p.Val110Leu)
c.265G>T (p.Val89Leu)
n.641G>T
n.292G>T
c.241G>T (p.Val81Leu)
7g.128401047C>GCA369174419IMPDH1c.364G>C (p.Val122Leu)
n.328G>C
c.472G>C (p.Val158Leu)
c.119G>C
c.442G>C (p.Val148Leu)
c.373G>C (p.Val125Leu)
c.218G>C
c.217G>C (p.Val73Leu)
c.*218G>C (n.*218G>C)
c.328G>C (p.Val110Leu)
c.265G>C (p.Val89Leu)
n.641G>C
n.292G>C
c.241G>C (p.Val81Leu)
7g.128401047C>TCA369174418IMPDH1c.364G>A (p.Val122Met)
n.328G>A
c.472G>A (p.Val158Met)
c.119G>A
c.442G>A (p.Val148Met)
c.373G>A (p.Val125Met)
c.218G>A
c.217G>A (p.Val73Met)
c.*218G>A (n.*218G>A)
c.328G>A (p.Val110Met)
c.265G>A (p.Val89Met)
n.641G>A
n.292G>A
c.241G>A (p.Val81Met)
7g.128401048A>CCA457528592IMPDH1c.363T>G (p.Thr121=)
n.327T>G
c.471T>G (p.Thr157=)
c.118T>G
c.441T>G (p.Thr147=)
c.372T>G (p.Thr124=)
c.217T>G
c.216T>G (p.Thr72=)
c.*217T>G (n.*217T>G)
c.327T>G (p.Thr109=)
c.264T>G (p.Thr88=)
n.640T>G
n.291T>G
c.240T>G (p.Thr80=)
7g.128401048A>GCA457528593IMPDH1c.363T>C (p.Thr121=)
n.327T>C
c.471T>C (p.Thr157=)
c.118T>C
c.441T>C (p.Thr147=)
c.372T>C (p.Thr124=)
c.217T>C
c.216T>C (p.Thr72=)
c.*217T>C (n.*217T>C)
c.327T>C (p.Thr109=)
c.264T>C (p.Thr88=)
n.640T>C
n.291T>C
c.240T>C (p.Thr80=)
7g.128401048A>TCA457528594IMPDH1c.363T>A (p.Thr121=)
n.327T>A
c.471T>A (p.Thr157=)
c.118T>A
c.441T>A (p.Thr147=)
c.372T>A (p.Thr124=)
c.217T>A
c.216T>A (p.Thr72=)
c.*217T>A (n.*217T>A)
c.327T>A (p.Thr109=)
c.264T>A (p.Thr88=)
n.640T>A
n.291T>A
c.240T>A (p.Thr80=)
7g.128401049G>ACA369174422IMPDH1c.362C>T (p.Thr121Ile)
n.326C>T
c.470C>T (p.Thr157Ile)
c.117C>T
c.440C>T (p.Thr147Ile)
c.371C>T (p.Thr124Ile)
c.216C>T
c.215C>T (p.Thr72Ile)
c.*216C>T (n.*216C>T)
c.326C>T (p.Thr109Ile)
c.263C>T (p.Thr88Ile)
n.639C>T
n.290C>T
c.239C>T (p.Thr80Ile)
7g.128401049G>CCA369174423IMPDH1c.362C>G (p.Thr121Ser)
n.326C>G
c.470C>G (p.Thr157Ser)
c.117C>G
c.440C>G (p.Thr147Ser)
c.371C>G (p.Thr124Ser)
c.216C>G
c.215C>G (p.Thr72Ser)
c.*216C>G (n.*216C>G)
c.326C>G (p.Thr109Ser)
c.263C>G (p.Thr88Ser)
n.639C>G
n.290C>G
c.239C>G (p.Thr80Ser)
7g.128401049G>TCA369174426IMPDH1c.362C>A (p.Thr121Asn)
n.326C>A
c.470C>A (p.Thr157Asn)
c.117C>A
c.440C>A (p.Thr147Asn)
c.371C>A (p.Thr124Asn)
c.216C>A
c.215C>A (p.Thr72Asn)
c.*216C>A (n.*216C>A)
c.326C>A (p.Thr109Asn)
c.263C>A (p.Thr88Asn)
n.639C>A
n.290C>A
c.239C>A (p.Thr80Asn)
7g.128401050T>ACA369174428IMPDH1c.361A>T (p.Thr121Ser)
n.325A>T
c.469A>T (p.Thr157Ser)
c.116A>T
c.439A>T (p.Thr147Ser)
c.370A>T (p.Thr124Ser)
c.215A>T
c.214A>T (p.Thr72Ser)
c.*215A>T (n.*215A>T)
c.325A>T (p.Thr109Ser)
c.262A>T (p.Thr88Ser)
n.638A>T
n.289A>T
c.238A>T (p.Thr80Ser)
7g.128401050T>CCA369174429IMPDH1c.361A>G (p.Thr121Ala)
n.325A>G
c.469A>G (p.Thr157Ala)
c.116A>G
c.439A>G (p.Thr147Ala)
c.370A>G (p.Thr124Ala)
c.215A>G
c.214A>G (p.Thr72Ala)
c.*215A>G (n.*215A>G)
c.325A>G (p.Thr109Ala)
c.262A>G (p.Thr88Ala)
n.638A>G
n.289A>G
c.238A>G (p.Thr80Ala)
7g.128401050T>GCA369174431IMPDH1c.361A>C (p.Thr121Pro)
n.325A>C
c.469A>C (p.Thr157Pro)
c.116A>C
c.439A>C (p.Thr147Pro)
c.370A>C (p.Thr124Pro)
c.215A>C
c.214A>C (p.Thr72Pro)
c.*215A>C (n.*215A>C)
c.325A>C (p.Thr109Pro)
c.262A>C (p.Thr88Pro)
n.638A>C
n.289A>C
c.238A>C (p.Thr80Pro)
7g.128401051G>ACA457528597IMPDH1c.360C>T (p.Asp120=)
n.324C>T
c.468C>T (p.Asp156=)
c.115C>T
c.438C>T (p.Asp146=)
c.369C>T (p.Asp123=)
c.214C>T
c.213C>T (p.Asp71=)
c.*214C>T (n.*214C>T)
c.324C>T (p.Asp108=)
c.261C>T (p.Asp87=)
n.637C>T
n.288C>T
c.237C>T (p.Asp79=)
7g.128401051G>CCA369174433IMPDH1c.360C>G (p.Asp120Glu)
n.324C>G
c.468C>G (p.Asp156Glu)
c.115C>G
c.438C>G (p.Asp146Glu)
c.369C>G (p.Asp123Glu)
c.214C>G
c.213C>G (p.Asp71Glu)
c.*214C>G (n.*214C>G)
c.324C>G (p.Asp108Glu)
c.261C>G (p.Asp87Glu)
n.637C>G
n.288C>G
c.237C>G (p.Asp79Glu)
7g.128401051G>TCA369174435IMPDH1c.360C>A (p.Asp120Glu)
n.324C>A
c.468C>A (p.Asp156Glu)
c.115C>A
c.438C>A (p.Asp146Glu)
c.369C>A (p.Asp123Glu)
c.214C>A
c.213C>A (p.Asp71Glu)
c.*214C>A (n.*214C>A)
c.324C>A (p.Asp108Glu)
c.261C>A (p.Asp87Glu)
n.637C>A
n.288C>A
c.237C>A (p.Asp79Glu)
7g.128401052T>ACA369174437IMPDH1c.359A>T (p.Asp120Val)
n.323A>T
c.467A>T (p.Asp156Val)
c.114A>T
c.437A>T (p.Asp146Val)
c.368A>T (p.Asp123Val)
c.213A>T
c.212A>T (p.Asp71Val)
c.*213A>T (n.*213A>T)
c.323A>T (p.Asp108Val)
c.260A>T (p.Asp87Val)
n.636A>T
n.287A>T
c.236A>T (p.Asp79Val)
7g.128401052T>CCA369174439IMPDH1c.359A>G (p.Asp120Gly)
n.323A>G
c.467A>G (p.Asp156Gly)
c.114A>G
c.437A>G (p.Asp146Gly)
c.368A>G (p.Asp123Gly)
c.213A>G
c.212A>G (p.Asp71Gly)
c.*213A>G (n.*213A>G)
c.323A>G (p.Asp108Gly)
c.260A>G (p.Asp87Gly)
n.636A>G
n.287A>G
c.236A>G (p.Asp79Gly)
7g.128401052T>GCA369174440IMPDH1c.359A>C (p.Asp120Ala)
n.323A>C
c.467A>C (p.Asp156Ala)
c.114A>C
c.437A>C (p.Asp146Ala)
c.368A>C (p.Asp123Ala)
c.213A>C
c.212A>C (p.Asp71Ala)
c.*213A>C (n.*213A>C)
c.323A>C (p.Asp108Ala)
c.260A>C (p.Asp87Ala)
n.636A>C
n.287A>C
c.236A>C (p.Asp79Ala)
7g.128401053C>ACA369174445IMPDH1c.358G>T (p.Asp120Tyr)
n.322G>T
c.466G>T (p.Asp156Tyr)
c.113G>T
c.436G>T (p.Asp146Tyr)
c.367G>T (p.Asp123Tyr)
c.212G>T
c.211G>T (p.Asp71Tyr)
c.*212G>T (n.*212G>T)
c.322G>T (p.Asp108Tyr)
c.259G>T (p.Asp87Tyr)
n.635G>T
n.286G>T
c.235G>T (p.Asp79Tyr)
7g.128401053C>GCA369174441IMPDH1c.358G>C (p.Asp120His)
n.322G>C
c.466G>C (p.Asp156His)
c.113G>C
c.436G>C (p.Asp146His)
c.367G>C (p.Asp123His)
c.212G>C
c.211G>C (p.Asp71His)
c.*212G>C (n.*212G>C)
c.322G>C (p.Asp108His)
c.259G>C (p.Asp87His)
n.635G>C
n.286G>C
c.235G>C (p.Asp79His)
7g.128401053C>TCA369174443IMPDH1c.358G>A (p.Asp120Asn)
n.322G>A
c.466G>A (p.Asp156Asn)
c.113G>A
c.436G>A (p.Asp146Asn)
c.367G>A (p.Asp123Asn)
c.212G>A
c.211G>A (p.Asp71Asn)
c.*212G>A (n.*212G>A)
c.322G>A (p.Asp108Asn)
c.259G>A (p.Asp87Asn)
n.635G>A
n.286G>A
c.235G>A (p.Asp79Asn)
7g.128401054C>ACA369174447IMPDH1c.357G>T (p.Met119Ile)
n.321G>T
c.465G>T (p.Met155Ile)
c.112G>T
c.435G>T (p.Met145Ile)
c.366G>T (p.Met122Ile)
c.211G>T
c.210G>T (p.Met70Ile)
c.*211G>T (n.*211G>T)
c.321G>T (p.Met107Ile)
c.258G>T (p.Met86Ile)
n.634G>T
n.285G>T
c.234G>T (p.Met78Ile)
7g.128401054C>GCA369174449IMPDH1c.357G>C (p.Met119Ile)
n.321G>C
c.465G>C (p.Met155Ile)
c.112G>C
c.435G>C (p.Met145Ile)
c.366G>C (p.Met122Ile)
c.211G>C
c.210G>C (p.Met70Ile)
c.*211G>C (n.*211G>C)
c.321G>C (p.Met107Ile)
c.258G>C (p.Met86Ile)
n.634G>C
n.285G>C
c.234G>C (p.Met78Ile)
7g.128401054C>TCA369174451IMPDH1c.357G>A (p.Met119Ile)
n.321G>A
c.465G>A (p.Met155Ile)
c.112G>A
c.435G>A (p.Met145Ile)
c.366G>A (p.Met122Ile)
c.211G>A
c.210G>A (p.Met70Ile)
c.*211G>A (n.*211G>A)
c.321G>A (p.Met107Ile)
c.258G>A (p.Met86Ile)
n.634G>A
n.285G>A
c.234G>A (p.Met78Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.128401055A>CCA369174453IMPDH1c.356T>G (p.Met119Arg)
n.320T>G
c.464T>G (p.Met155Arg)
c.111T>G
c.434T>G (p.Met145Arg)
c.365T>G (p.Met122Arg)
c.210T>G
c.209T>G (p.Met70Arg)
c.*210T>G (n.*210T>G)
c.320T>G (p.Met107Arg)
c.257T>G (p.Met86Arg)
n.633T>G
n.284T>G
c.233T>G (p.Met78Arg)
7g.128401055A>GCA369174455IMPDH1c.356T>C (p.Met119Thr)
n.320T>C
c.464T>C (p.Met155Thr)
c.111T>C
c.434T>C (p.Met145Thr)
c.365T>C (p.Met122Thr)
c.210T>C
c.209T>C (p.Met70Thr)
c.*210T>C (n.*210T>C)
c.320T>C (p.Met107Thr)
c.257T>C (p.Met86Thr)
n.633T>C
n.284T>C
c.233T>C (p.Met78Thr)
7g.128401055A>TCA369174457IMPDH1c.356T>A (p.Met119Lys)
n.320T>A
c.464T>A (p.Met155Lys)
c.111T>A
c.434T>A (p.Met145Lys)
c.365T>A (p.Met122Lys)
c.210T>A
c.209T>A (p.Met70Lys)
c.*210T>A (n.*210T>A)
c.320T>A (p.Met107Lys)
c.257T>A (p.Met86Lys)
n.633T>A
n.284T>A
c.233T>A (p.Met78Lys)
7g.128401055_128401056insCCA2684778685IMPDH1c.355_356insG (p.Met119SerfsTer8)
n.319_320insG
c.463_464insG (p.Met155SerfsTer8)
c.110_111insG
c.433_434insG (p.Met145SerfsTer8)
c.364_365insG (p.Met122SerfsTer8)
c.209_210insG
c.208_209insG (p.Met70SerfsTer8)
c.*209_*210insG (n.*209_*210insG)
c.319_320insG (p.Met107SerfsTer8)
c.256_257insG (p.Met86SerfsTer8)
n.632_633insG
n.283_284insG
c.232_233insG (p.Met78SerfsTer8)
 gnomAD v4
7g.128401056T>ACA369174459IMPDH1c.355A>T (p.Met119Leu)
n.319A>T
c.463A>T (p.Met155Leu)
c.110A>T
c.433A>T (p.Met145Leu)
c.364A>T (p.Met122Leu)
c.209A>T
c.208A>T (p.Met70Leu)
c.*209A>T (n.*209A>T)
c.319A>T (p.Met107Leu)
c.256A>T (p.Met86Leu)
n.632A>T
n.283A>T
c.232A>T (p.Met78Leu)
7g.128401056T>CCA4471151IMPDH1c.355A>G (p.Met119Val)
n.319A>G
c.463A>G (p.Met155Val)
c.110A>G
c.433A>G (p.Met145Val)
c.364A>G (p.Met122Val)
c.209A>G
c.208A>G (p.Met70Val)
c.*209A>G (n.*209A>G)
c.319A>G (p.Met107Val)
c.256A>G (p.Met86Val)
n.632A>G
n.283A>G
c.232A>G (p.Met78Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401056T>GCA369174461IMPDH1c.355A>C (p.Met119Leu)
n.319A>C
c.463A>C (p.Met155Leu)
c.110A>C
c.433A>C (p.Met145Leu)
c.364A>C (p.Met122Leu)
c.209A>C
c.208A>C (p.Met70Leu)
c.*209A>C (n.*209A>C)
c.319A>C (p.Met107Leu)
c.256A>C (p.Met86Leu)
n.632A>C
n.283A>C
c.232A>C (p.Met78Leu)
 gnomAD v4
7g.128401056T=CA1742334744IMPDH1c.355A= (p.Met119=)
n.319A=
c.463A= (p.Met155=)
c.110A=
c.433A= (p.Met145=)
c.364A= (p.Met122=)
c.209A=
c.208A= (p.Met70=)
c.*209A= (n.*209A=)
c.319A= (p.Met107=)
c.256A= (p.Met86=)
n.632A=
n.283A=
c.232A= (p.Met78=)
7g.128401057G>ACA4471152IMPDH1c.354C>T (p.Pro118=)
n.318C>T
c.462C>T (p.Pro154=)
c.109C>T
c.432C>T (p.Pro144=)
c.363C>T (p.Pro121=)
c.208C>T
c.207C>T (p.Pro69=)
c.*208C>T (n.*208C>T)
c.318C>T (p.Pro106=)
c.255C>T (p.Pro85=)
n.631C>T
n.282C>T
c.231C>T (p.Pro77=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401057G>CCA457528600IMPDH1c.354C>G (p.Pro118=)
n.318C>G
c.462C>G (p.Pro154=)
c.109C>G
c.432C>G (p.Pro144=)
c.363C>G (p.Pro121=)
c.208C>G
c.207C>G (p.Pro69=)
c.*208C>G (n.*208C>G)
c.318C>G (p.Pro106=)
c.255C>G (p.Pro85=)
n.631C>G
n.282C>G
c.231C>G (p.Pro77=)
 gnomAD v4
7g.128401057G=CA1742334748IMPDH1c.354C= (p.Pro118=)
n.318C=
c.462C= (p.Pro154=)
c.109C=
c.432C= (p.Pro144=)
c.363C= (p.Pro121=)
c.208C=
c.207C= (p.Pro69=)
c.*208C= (n.*208C=)
c.318C= (p.Pro106=)
c.255C= (p.Pro85=)
n.631C=
n.282C=
c.231C= (p.Pro77=)
7g.128401057G>TCA457528601IMPDH1c.354C>A (p.Pro118=)
n.318C>A
c.462C>A (p.Pro154=)
c.109C>A
c.432C>A (p.Pro144=)
c.363C>A (p.Pro121=)
c.208C>A
c.207C>A (p.Pro69=)
c.*208C>A (n.*208C>A)
c.318C>A (p.Pro106=)
c.255C>A (p.Pro85=)
n.631C>A
n.282C>A
c.231C>A (p.Pro77=)
 dbSNP gnomAD v4
7g.128401058G>ACA369174467IMPDH1c.353C>T (p.Pro118Leu)
n.317C>T
c.461C>T (p.Pro154Leu)
c.108C>T
c.431C>T (p.Pro144Leu)
c.362C>T (p.Pro121Leu)
c.207C>T
c.206C>T (p.Pro69Leu)
c.*207C>T (n.*207C>T)
c.317C>T (p.Pro106Leu)
c.254C>T (p.Pro85Leu)
n.630C>T
n.281C>T
c.230C>T (p.Pro77Leu)
7g.128401058G>CCA369174468IMPDH1c.353C>G (p.Pro118Arg)
n.317C>G
c.461C>G (p.Pro154Arg)
c.108C>G
c.431C>G (p.Pro144Arg)
c.362C>G (p.Pro121Arg)
c.207C>G
c.206C>G (p.Pro69Arg)
c.*207C>G (n.*207C>G)
c.317C>G (p.Pro106Arg)
c.254C>G (p.Pro85Arg)
n.630C>G
n.281C>G
c.230C>G (p.Pro77Arg)
7g.128401058G>TCA369174465IMPDH1c.353C>A (p.Pro118His)
n.317C>A
c.461C>A (p.Pro154His)
c.108C>A
c.431C>A (p.Pro144His)
c.362C>A (p.Pro121His)
c.207C>A
c.206C>A (p.Pro69His)
c.*207C>A (n.*207C>A)
c.317C>A (p.Pro106His)
c.254C>A (p.Pro85His)
n.630C>A
n.281C>A
c.230C>A (p.Pro77His)
7g.128401059G>ACA369174469IMPDH1c.352C>T (p.Pro118Ser)
n.316C>T
c.460C>T (p.Pro154Ser)
c.107C>T
c.430C>T (p.Pro144Ser)
c.361C>T (p.Pro121Ser)
c.206C>T
c.205C>T (p.Pro69Ser)
c.*206C>T (n.*206C>T)
c.316C>T (p.Pro106Ser)
c.253C>T (p.Pro85Ser)
n.629C>T
n.280C>T
c.229C>T (p.Pro77Ser)
7g.128401059G>CCA369174470IMPDH1c.352C>G (p.Pro118Ala)
n.316C>G
c.460C>G (p.Pro154Ala)
c.107C>G
c.430C>G (p.Pro144Ala)
c.361C>G (p.Pro121Ala)
c.206C>G
c.205C>G (p.Pro69Ala)
c.*206C>G (n.*206C>G)
c.316C>G (p.Pro106Ala)
c.253C>G (p.Pro85Ala)
n.629C>G
n.280C>G
c.229C>G (p.Pro77Ala)
 ClinVar dbSNP gnomAD v4
7g.128401059G>TCA369174471IMPDH1c.352C>A (p.Pro118Thr)
n.316C>A
c.460C>A (p.Pro154Thr)
c.107C>A
c.430C>A (p.Pro144Thr)
c.361C>A (p.Pro121Thr)
c.206C>A
c.205C>A (p.Pro69Thr)
c.*206C>A (n.*206C>A)
c.316C>A (p.Pro106Thr)
c.253C>A (p.Pro85Thr)
n.629C>A
n.280C>A
c.229C>A (p.Pro77Thr)
7g.128401060G>ACA457528602IMPDH1c.351C>T (p.Ser117=)
n.315C>T
c.459C>T (p.Ser153=)
c.106C>T
c.429C>T (p.Ser143=)
c.360C>T (p.Ser120=)
c.205C>T
c.204C>T (p.Ser68=)
c.*205C>T (n.*205C>T)
c.315C>T (p.Ser105=)
c.252C>T (p.Ser84=)
n.628C>T
n.279C>T
c.228C>T (p.Ser76=)
7g.128401060G>CCA457528603IMPDH1c.351C>G (p.Ser117=)
n.315C>G
c.459C>G (p.Ser153=)
c.106C>G
c.429C>G (p.Ser143=)
c.360C>G (p.Ser120=)
c.205C>G
c.204C>G (p.Ser68=)
c.*205C>G (n.*205C>G)
c.315C>G (p.Ser105=)
c.252C>G (p.Ser84=)
n.628C>G
n.279C>G
c.228C>G (p.Ser76=)
7g.128401060G>TCA457528604IMPDH1c.351C>A (p.Ser117=)
n.315C>A
c.459C>A (p.Ser153=)
c.106C>A
c.429C>A (p.Ser143=)
c.360C>A (p.Ser120=)
c.205C>A
c.204C>A (p.Ser68=)
c.*205C>A (n.*205C>A)
c.315C>A (p.Ser105=)
c.252C>A (p.Ser84=)
n.628C>A
n.279C>A
c.228C>A (p.Ser76=)
7g.128401064_128401066delCA2684778687IMPDH1c.349_351del (p.Ser117del)
n.313_315del
c.457_459del (p.Ser153del)
c.104_106del
c.427_429del (p.Ser143del)
c.358_360del (p.Ser120del)
c.203_205del
c.202_204del (p.Ser68del)
c.*203_*205del (n.*203_*205del)
c.313_315del (p.Ser105del)
c.250_252del (p.Ser84del)
n.626_628del
n.277_279del
c.226_228del (p.Ser76del)
 gnomAD v4
7g.128401061G>ACA369174473IMPDH1c.350C>T (p.Ser117Phe)
n.314C>T
c.458C>T (p.Ser153Phe)
c.105C>T
c.428C>T (p.Ser143Phe)
c.359C>T (p.Ser120Phe)
c.204C>T
c.203C>T (p.Ser68Phe)
c.*204C>T (n.*204C>T)
c.314C>T (p.Ser105Phe)
c.251C>T (p.Ser84Phe)
n.627C>T
n.278C>T
c.227C>T (p.Ser76Phe)
 ClinVar COSMIC
7g.128401061G>CCA369174475IMPDH1c.350C>G (p.Ser117Cys)
n.314C>G
c.458C>G (p.Ser153Cys)
c.105C>G
c.428C>G (p.Ser143Cys)
c.359C>G (p.Ser120Cys)
c.204C>G
c.203C>G (p.Ser68Cys)
c.*204C>G (n.*204C>G)
c.314C>G (p.Ser105Cys)
c.251C>G (p.Ser84Cys)
n.627C>G
n.278C>G
c.227C>G (p.Ser76Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.128401061G=CA1742334754IMPDH1c.350C= (p.Ser117=)
n.314C=
c.458C= (p.Ser153=)
c.105C=
c.428C= (p.Ser143=)
c.359C= (p.Ser120=)
c.204C=
c.203C= (p.Ser68=)
c.*204C= (n.*204C=)
c.314C= (p.Ser105=)
c.251C= (p.Ser84=)
n.627C=
n.278C=
c.227C= (p.Ser76=)
7g.128401061G>TCA369174477IMPDH1c.350C>A (p.Ser117Tyr)
n.314C>A
c.458C>A (p.Ser153Tyr)
c.105C>A
c.428C>A (p.Ser143Tyr)
c.359C>A (p.Ser120Tyr)
c.204C>A
c.203C>A (p.Ser68Tyr)
c.*204C>A (n.*204C>A)
c.314C>A (p.Ser105Tyr)
c.251C>A (p.Ser84Tyr)
n.627C>A
n.278C>A
c.227C>A (p.Ser76Tyr)
7g.128401061_128401062delinsGACA1742334772IMPDH1c.349_350delinsTC (p.Ser117=)
n.313_314delinsTC
c.457_458delinsTC (p.Ser153=)
c.104_105delinsTC
c.427_428delinsTC (p.Ser143=)
c.358_359delinsTC (p.Ser120=)
c.203_204delinsTC
c.202_203delinsTC (p.Ser68=)
c.*203_*204delinsTC (n.*203_*204delinsTC)
c.313_314delinsTC (p.Ser105=)
c.250_251delinsTC (p.Ser84=)
n.626_627delinsTC
n.277_278delinsTC
c.226_227delinsTC (p.Ser76=)
7g.128401062delCA4471153IMPDH1c.349del (p.Ser117ProfsTer6)
n.313del
c.457del (p.Ser153ProfsTer6)
c.104del
c.427del (p.Ser143ProfsTer6)
c.358del (p.Ser120ProfsTer6)
c.203del
c.202del (p.Ser68ProfsTer6)
c.*203del (n.*203del)
c.313del (p.Ser105ProfsTer6)
c.250del (p.Ser84ProfsTer6)
n.626del
n.277del
c.226del (p.Ser76ProfsTer6)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401062A=CA1742334776IMPDH1c.349T= (p.Ser117=)
n.313T=
c.457T= (p.Ser153=)
c.104T=
c.427T= (p.Ser143=)
c.358T= (p.Ser120=)
c.203T=
c.202T= (p.Ser68=)
c.*203T= (n.*203T=)
c.313T= (p.Ser105=)
c.250T= (p.Ser84=)
n.626T=
n.277T=
c.226T= (p.Ser76=)
7g.128401062A>CCA369174479IMPDH1c.349T>G (p.Ser117Ala)
n.313T>G
c.457T>G (p.Ser153Ala)
c.104T>G
c.427T>G (p.Ser143Ala)
c.358T>G (p.Ser120Ala)
c.203T>G
c.202T>G (p.Ser68Ala)
c.*203T>G (n.*203T>G)
c.313T>G (p.Ser105Ala)
c.250T>G (p.Ser84Ala)
n.626T>G
n.277T>G
c.226T>G (p.Ser76Ala)
7g.128401062A>GCA369174483IMPDH1c.349T>C (p.Ser117Pro)
n.313T>C
c.457T>C (p.Ser153Pro)
c.104T>C
c.427T>C (p.Ser143Pro)
c.358T>C (p.Ser120Pro)
c.203T>C
c.202T>C (p.Ser68Pro)
c.*203T>C (n.*203T>C)
c.313T>C (p.Ser105Pro)
c.250T>C (p.Ser84Pro)
n.626T>C
n.277T>C
c.226T>C (p.Ser76Pro)
7g.128401062A>TCA4471154IMPDH1c.349T>A (p.Ser117Thr)
n.313T>A
c.457T>A (p.Ser153Thr)
c.104T>A
c.427T>A (p.Ser143Thr)
c.358T>A (p.Ser120Thr)
c.203T>A
c.202T>A (p.Ser68Thr)
c.*203T>A (n.*203T>A)
c.313T>A (p.Ser105Thr)
c.250T>A (p.Ser84Thr)
n.626T>A
n.277T>A
c.226T>A (p.Ser76Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401063G>ACA457528605IMPDH1c.348C>T (p.Ser116=)
n.312C>T
c.456C>T (p.Ser152=)
c.103C>T
c.426C>T (p.Ser142=)
c.357C>T (p.Ser119=)
c.202C>T
c.201C>T (p.Ser67=)
c.*202C>T (n.*202C>T)
c.312C>T (p.Ser104=)
c.249C>T (p.Ser83=)
n.625C>T
n.276C>T
c.225C>T (p.Ser75=)
 gnomAD v4
7g.128401063G>CCA457528606IMPDH1c.348C>G (p.Ser116=)
n.312C>G
c.456C>G (p.Ser152=)
c.103C>G
c.426C>G (p.Ser142=)
c.357C>G (p.Ser119=)
c.202C>G
c.201C>G (p.Ser67=)
c.*202C>G (n.*202C>G)
c.312C>G (p.Ser104=)
c.249C>G (p.Ser83=)
n.625C>G
n.276C>G
c.225C>G (p.Ser75=)
7g.128401063G>TCA457528607IMPDH1c.348C>A (p.Ser116=)
n.312C>A
c.456C>A (p.Ser152=)
c.103C>A
c.426C>A (p.Ser142=)
c.357C>A (p.Ser119=)
c.202C>A
c.201C>A (p.Ser67=)
c.*202C>A (n.*202C>A)
c.312C>A (p.Ser104=)
c.249C>A (p.Ser83=)
n.625C>A
n.276C>A
c.225C>A (p.Ser75=)
7g.128401064G>ACA369174485IMPDH1c.347C>T (p.Ser116Phe)
n.311C>T
c.455C>T (p.Ser152Phe)
c.102C>T
c.425C>T (p.Ser142Phe)
c.356C>T (p.Ser119Phe)
c.201C>T
c.200C>T (p.Ser67Phe)
c.*201C>T (n.*201C>T)
c.311C>T (p.Ser104Phe)
c.248C>T (p.Ser83Phe)
n.624C>T
n.275C>T
c.224C>T (p.Ser75Phe)
 COSMIC COSMIC
7g.128401064G>CCA369174486IMPDH1c.347C>G (p.Ser116Cys)
n.311C>G
c.455C>G (p.Ser152Cys)
c.102C>G
c.425C>G (p.Ser142Cys)
c.356C>G (p.Ser119Cys)
c.201C>G
c.200C>G (p.Ser67Cys)
c.*201C>G (n.*201C>G)
c.311C>G (p.Ser104Cys)
c.248C>G (p.Ser83Cys)
n.624C>G
n.275C>G
c.224C>G (p.Ser75Cys)
7g.128401064G=CA1742334784IMPDH1c.347C= (p.Ser116=)
n.311C=
c.455C= (p.Ser152=)
c.102C=
c.425C= (p.Ser142=)
c.356C= (p.Ser119=)
c.201C=
c.200C= (p.Ser67=)
c.*201C= (n.*201C=)
c.311C= (p.Ser104=)
c.248C= (p.Ser83=)
n.624C=
n.275C=
c.224C= (p.Ser75=)
7g.128401064G>TCA4471155IMPDH1c.347C>A (p.Ser116Tyr)
n.311C>A
c.455C>A (p.Ser152Tyr)
c.102C>A
c.425C>A (p.Ser142Tyr)
c.356C>A (p.Ser119Tyr)
c.201C>A
c.200C>A (p.Ser67Tyr)
c.*201C>A (n.*201C>A)
c.311C>A (p.Ser104Tyr)
c.248C>A (p.Ser83Tyr)
n.624C>A
n.275C>A
c.224C>A (p.Ser75Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401065A>CCA369174489IMPDH1c.346T>G (p.Ser116Ala)
n.310T>G
c.454T>G (p.Ser152Ala)
c.101T>G
c.424T>G (p.Ser142Ala)
c.355T>G (p.Ser119Ala)
c.200T>G
c.199T>G (p.Ser67Ala)
c.*200T>G (n.*200T>G)
c.310T>G (p.Ser104Ala)
c.247T>G (p.Ser83Ala)
n.623T>G
n.274T>G
c.223T>G (p.Ser75Ala)
7g.128401065A>GCA369174492IMPDH1c.346T>C (p.Ser116Pro)
n.310T>C
c.454T>C (p.Ser152Pro)
c.101T>C
c.424T>C (p.Ser142Pro)
c.355T>C (p.Ser119Pro)
c.200T>C
c.199T>C (p.Ser67Pro)
c.*200T>C (n.*200T>C)
c.310T>C (p.Ser104Pro)
c.247T>C (p.Ser83Pro)
n.623T>C
n.274T>C
c.223T>C (p.Ser75Pro)
7g.128401065A>TCA369174490IMPDH1c.346T>A (p.Ser116Thr)
n.310T>A
c.454T>A (p.Ser152Thr)
c.101T>A
c.424T>A (p.Ser142Thr)
c.355T>A (p.Ser119Thr)
c.200T>A
c.199T>A (p.Ser67Thr)
c.*200T>A (n.*200T>A)
c.310T>A (p.Ser104Thr)
c.247T>A (p.Ser83Thr)
n.623T>A
n.274T>A
c.223T>A (p.Ser75Thr)
 COSMIC COSMIC
7g.128401066G>ACA457528608IMPDH1c.345C>T (p.Ile115=)
n.309C>T
c.453C>T (p.Ile151=)
c.100C>T
c.423C>T (p.Ile141=)
c.354C>T (p.Ile118=)
c.199C>T
c.198C>T (p.Ile66=)
c.*199C>T (n.*199C>T)
c.309C>T (p.Ile103=)
c.246C>T (p.Ile82=)
n.622C>T
n.273C>T
c.222C>T (p.Ile74=)
 gnomAD v4
7g.128401066G>CCA369174493IMPDH1c.345C>G (p.Ile115Met)
n.309C>G
c.453C>G (p.Ile151Met)
c.100C>G
c.423C>G (p.Ile141Met)
c.354C>G (p.Ile118Met)
c.199C>G
c.198C>G (p.Ile66Met)
c.*199C>G (n.*199C>G)
c.309C>G (p.Ile103Met)
c.246C>G (p.Ile82Met)
n.622C>G
n.273C>G
c.222C>G (p.Ile74Met)
7g.128401066G=CA1742334787IMPDH1c.345C= (p.Ile115=)
n.309C=
c.453C= (p.Ile151=)
c.100C=
c.423C= (p.Ile141=)
c.354C= (p.Ile118=)
c.199C=
c.198C= (p.Ile66=)
c.*199C= (n.*199C=)
c.309C= (p.Ile103=)
c.246C= (p.Ile82=)
n.622C=
n.273C=
c.222C= (p.Ile74=)
7g.128401066G>TCA4471156IMPDH1c.345C>A (p.Ile115=)
n.309C>A
c.453C>A (p.Ile151=)
c.100C>A
c.423C>A (p.Ile141=)
c.354C>A (p.Ile118=)
c.199C>A
c.198C>A (p.Ile66=)
c.*199C>A (n.*199C>A)
c.309C>A (p.Ile103=)
c.246C>A (p.Ile82=)
n.622C>A
n.273C>A
c.222C>A (p.Ile74=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401067A>CCA369174495IMPDH1c.344T>G (p.Ile115Ser)
n.308T>G
c.452T>G (p.Ile151Ser)
c.99T>G
c.422T>G (p.Ile141Ser)
c.353T>G (p.Ile118Ser)
c.198T>G
c.197T>G (p.Ile66Ser)
c.*198T>G (n.*198T>G)
c.308T>G (p.Ile103Ser)
c.245T>G (p.Ile82Ser)
n.621T>G
n.272T>G
c.221T>G (p.Ile74Ser)
7g.128401067A>GCA369174497IMPDH1c.344T>C (p.Ile115Thr)
n.308T>C
c.452T>C (p.Ile151Thr)
c.99T>C
c.422T>C (p.Ile141Thr)
c.353T>C (p.Ile118Thr)
c.198T>C
c.197T>C (p.Ile66Thr)
c.*198T>C (n.*198T>C)
c.308T>C (p.Ile103Thr)
c.245T>C (p.Ile82Thr)
n.621T>C
n.272T>C
c.221T>C (p.Ile74Thr)
7g.128401067A>TCA369174498IMPDH1c.344T>A (p.Ile115Asn)
n.308T>A
c.452T>A (p.Ile151Asn)
c.99T>A
c.422T>A (p.Ile141Asn)
c.353T>A (p.Ile118Asn)
c.198T>A
c.197T>A (p.Ile66Asn)
c.*198T>A (n.*198T>A)
c.308T>A (p.Ile103Asn)
c.245T>A (p.Ile82Asn)
n.621T>A
n.272T>A
c.221T>A (p.Ile74Asn)
7g.128401068T>ACA369174500IMPDH1c.343A>T (p.Ile115Phe)
n.307A>T
c.451A>T (p.Ile151Phe)
c.98A>T
c.421A>T (p.Ile141Phe)
c.352A>T (p.Ile118Phe)
c.197A>T
c.196A>T (p.Ile66Phe)
c.*197A>T (n.*197A>T)
c.307A>T (p.Ile103Phe)
c.244A>T (p.Ile82Phe)
n.620A>T
n.271A>T
c.220A>T (p.Ile74Phe)
7g.128401068T>CCA369174501IMPDH1c.343A>G (p.Ile115Val)
n.307A>G
c.451A>G (p.Ile151Val)
c.98A>G
c.421A>G (p.Ile141Val)
c.352A>G (p.Ile118Val)
c.197A>G
c.196A>G (p.Ile66Val)
c.*197A>G (n.*197A>G)
c.307A>G (p.Ile103Val)
c.244A>G (p.Ile82Val)
n.620A>G
n.271A>G
c.220A>G (p.Ile74Val)
7g.128401068T>GCA369174503IMPDH1c.343A>C (p.Ile115Leu)
n.307A>C
c.451A>C (p.Ile151Leu)
c.98A>C
c.421A>C (p.Ile141Leu)
c.352A>C (p.Ile118Leu)
c.197A>C
c.196A>C (p.Ile66Leu)
c.*197A>C (n.*197A>C)
c.307A>C (p.Ile103Leu)
c.244A>C (p.Ile82Leu)
n.620A>C
n.271A>C
c.220A>C (p.Ile74Leu)
7g.128401069C>ACA457528609IMPDH1c.342G>T (p.Leu114=)
n.306G>T
c.450G>T (p.Leu150=)
c.97G>T
c.420G>T (p.Leu140=)
c.351G>T (p.Leu117=)
c.196G>T
c.195G>T (p.Leu65=)
c.*196G>T (n.*196G>T)
c.306G>T (p.Leu102=)
c.243G>T (p.Leu81=)
n.619G>T
n.270G>T
c.219G>T (p.Leu73=)
7g.128401069C=CA1742334790IMPDH1c.342G= (p.Leu114=)
n.306G=
c.450G= (p.Leu150=)
c.97G=
c.420G= (p.Leu140=)
c.351G= (p.Leu117=)
c.196G=
c.195G= (p.Leu65=)
c.*196G= (n.*196G=)
c.306G= (p.Leu102=)
c.243G= (p.Leu81=)
n.619G=
n.270G=
c.219G= (p.Leu73=)
7g.128401069C>GCA166129562IMPDH1c.342G>C (p.Leu114=)
n.306G>C
c.450G>C (p.Leu150=)
c.97G>C
c.420G>C (p.Leu140=)
c.351G>C (p.Leu117=)
c.196G>C
c.195G>C (p.Leu65=)
c.*196G>C (n.*196G>C)
c.306G>C (p.Leu102=)
c.243G>C (p.Leu81=)
n.619G>C
n.270G>C
c.219G>C (p.Leu73=)
 dbSNP
7g.128401069C>TCA166129563IMPDH1c.342G>A (p.Leu114=)
n.306G>A
c.450G>A (p.Leu150=)
c.97G>A
c.420G>A (p.Leu140=)
c.351G>A (p.Leu117=)
c.196G>A
c.195G>A (p.Leu65=)
c.*196G>A (n.*196G>A)
c.306G>A (p.Leu102=)
c.243G>A (p.Leu81=)
n.619G>A
n.270G>A
c.219G>A (p.Leu73=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.128401070A>CCA369174510IMPDH1c.341T>G (p.Leu114Arg)
n.305T>G
c.449T>G (p.Leu150Arg)
c.96T>G
c.419T>G (p.Leu140Arg)
c.350T>G (p.Leu117Arg)
c.195T>G
c.194T>G (p.Leu65Arg)
c.*195T>G (n.*195T>G)
c.305T>G (p.Leu102Arg)
c.242T>G (p.Leu81Arg)
n.618T>G
n.269T>G
c.218T>G (p.Leu73Arg)
7g.128401070A>GCA369174512IMPDH1c.341T>C (p.Leu114Pro)
n.305T>C
c.449T>C (p.Leu150Pro)
c.96T>C
c.419T>C (p.Leu140Pro)
c.350T>C (p.Leu117Pro)
c.195T>C
c.194T>C (p.Leu65Pro)
c.*195T>C (n.*195T>C)
c.305T>C (p.Leu102Pro)
c.242T>C (p.Leu81Pro)
n.618T>C
n.269T>C
c.218T>C (p.Leu73Pro)
7g.128401070A>TCA369174514IMPDH1c.341T>A (p.Leu114Gln)
n.305T>A
c.449T>A (p.Leu150Gln)
c.96T>A
c.419T>A (p.Leu140Gln)
c.350T>A (p.Leu117Gln)
c.195T>A
c.194T>A (p.Leu65Gln)
c.*195T>A (n.*195T>A)
c.305T>A (p.Leu102Gln)
c.242T>A (p.Leu81Gln)
n.618T>A
n.269T>A
c.218T>A (p.Leu73Gln)
7g.128401070_128401073delinsAGTGCA1742334794IMPDH1c.338_341delinsCACT (p.Pro113=)
n.302_305delinsCACT
c.446_449delinsCACT (p.Pro149=)
c.93_96delinsCACT
c.416_419delinsCACT (p.Pro139=)
c.347_350delinsCACT (p.Pro116=)
c.192_195delinsCACT
c.191_194delinsCACT (p.Pro64=)
c.*192_*195delinsCACT (n.*192_*195delinsCACT)
c.302_305delinsCACT (p.Pro101=)
c.239_242delinsCACT (p.Pro80=)
n.615_618delinsCACT
n.266_269delinsCACT
c.215_218delinsCACT (p.Pro72=)
7g.128401071G>ACA457528610IMPDH1c.340C>T (p.Leu114=)
n.304C>T
c.448C>T (p.Leu150=)
c.95C>T
c.418C>T (p.Leu140=)
c.349C>T (p.Leu117=)
c.194C>T
c.193C>T (p.Leu65=)
c.*194C>T (n.*194C>T)
c.304C>T (p.Leu102=)
c.241C>T (p.Leu81=)
n.617C>T
n.268C>T
c.217C>T (p.Leu73=)
7g.128401071G>CCA369174518IMPDH1c.340C>G (p.Leu114Val)
n.304C>G
c.448C>G (p.Leu150Val)
c.95C>G
c.418C>G (p.Leu140Val)
c.349C>G (p.Leu117Val)
c.194C>G
c.193C>G (p.Leu65Val)
c.*194C>G (n.*194C>G)
c.304C>G (p.Leu102Val)
c.241C>G (p.Leu81Val)
n.617C>G
n.268C>G
c.217C>G (p.Leu73Val)
7g.128401071G>TCA369174516IMPDH1c.340C>A (p.Leu114Met)
n.304C>A
c.448C>A (p.Leu150Met)
c.95C>A
c.418C>A (p.Leu140Met)
c.349C>A (p.Leu117Met)
c.194C>A
c.193C>A (p.Leu65Met)
c.*194C>A (n.*194C>A)
c.304C>A (p.Leu102Met)
c.241C>A (p.Leu81Met)
n.617C>A
n.268C>A
c.217C>A (p.Leu73Met)
7g.128401072_128401074delCA833102800IMPDH1c.338_340del (p.Pro113del)
n.302_304del
c.446_448del (p.Pro149del)
c.93_95del
c.416_418del (p.Pro139del)
c.347_349del (p.Pro116del)
c.192_194del
c.191_193del (p.Pro64del)
c.*192_*194del (n.*192_*194del)
c.302_304del (p.Pro101del)
c.239_241del (p.Pro80del)
n.615_617del
n.266_268del
c.215_217del (p.Pro72del)
 dbSNP
7g.128401072T>ACA457528611IMPDH1c.339A>T (p.Pro113=)
n.303A>T
c.447A>T (p.Pro149=)
c.94A>T
c.417A>T (p.Pro139=)
c.348A>T (p.Pro116=)
c.193A>T
c.192A>T (p.Pro64=)
c.*193A>T (n.*193A>T)
c.303A>T (p.Pro101=)
c.240A>T (p.Pro80=)
n.616A>T
n.267A>T
c.216A>T (p.Pro72=)
7g.128401072T>CCA457528612IMPDH1c.339A>G (p.Pro113=)
n.303A>G
c.447A>G (p.Pro149=)
c.94A>G
c.417A>G (p.Pro139=)
c.348A>G (p.Pro116=)
c.193A>G
c.192A>G (p.Pro64=)
c.*193A>G (n.*193A>G)
c.303A>G (p.Pro101=)
c.240A>G (p.Pro80=)
n.616A>G
n.267A>G
c.216A>G (p.Pro72=)
 dbSNP
7g.128401072T>GCA457528613IMPDH1c.339A>C (p.Pro113=)
n.303A>C
c.447A>C (p.Pro149=)
c.94A>C
c.417A>C (p.Pro139=)
c.348A>C (p.Pro116=)
c.193A>C
c.192A>C (p.Pro64=)
c.*193A>C (n.*193A>C)
c.303A>C (p.Pro101=)
c.240A>C (p.Pro80=)
n.616A>C
n.267A>C
c.216A>C (p.Pro72=)
7g.128401073G>ACA369174521IMPDH1c.338C>T (p.Pro113Leu)
n.302C>T
c.446C>T (p.Pro149Leu)
c.93C>T
c.416C>T (p.Pro139Leu)
c.347C>T (p.Pro116Leu)
c.192C>T
c.191C>T (p.Pro64Leu)
c.*192C>T (n.*192C>T)
c.302C>T (p.Pro101Leu)
c.239C>T (p.Pro80Leu)
n.615C>T
n.266C>T
c.215C>T (p.Pro72Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.128401073G>CCA369174523IMPDH1c.338C>G (p.Pro113Arg)
n.302C>G
c.446C>G (p.Pro149Arg)
c.93C>G
c.416C>G (p.Pro139Arg)
c.347C>G (p.Pro116Arg)
c.192C>G
c.191C>G (p.Pro64Arg)
c.*192C>G (n.*192C>G)
c.302C>G (p.Pro101Arg)
c.239C>G (p.Pro80Arg)
n.615C>G
n.266C>G
c.215C>G (p.Pro72Arg)
7g.128401073G=CA1742334797IMPDH1c.338C= (p.Pro113=)
n.302C=
c.446C= (p.Pro149=)
c.93C=
c.416C= (p.Pro139=)
c.347C= (p.Pro116=)
c.192C=
c.191C= (p.Pro64=)
c.*192C= (n.*192C=)
c.302C= (p.Pro101=)
c.239C= (p.Pro80=)
n.615C=
n.266C=
c.215C= (p.Pro72=)
7g.128401073G>TCA369174522IMPDH1c.338C>A (p.Pro113Gln)
n.302C>A
c.446C>A (p.Pro149Gln)
c.93C>A
c.416C>A (p.Pro139Gln)
c.347C>A (p.Pro116Gln)
c.192C>A
c.191C>A (p.Pro64Gln)
c.*192C>A (n.*192C>A)
c.302C>A (p.Pro101Gln)
c.239C>A (p.Pro80Gln)
n.615C>A
n.266C>A
c.215C>A (p.Pro72Gln)
7g.128401074G>ACA369174524IMPDH1c.337C>T (p.Pro113Ser)
n.301C>T
c.445C>T (p.Pro149Ser)
c.92C>T
c.415C>T (p.Pro139Ser)
c.346C>T (p.Pro116Ser)
c.191C>T
c.190C>T (p.Pro64Ser)
c.*191C>T (n.*191C>T)
c.301C>T (p.Pro101Ser)
c.238C>T (p.Pro80Ser)
n.614C>T
n.265C>T
c.214C>T (p.Pro72Ser)
7g.128401074G>CCA369174527IMPDH1c.337C>G (p.Pro113Ala)
n.301C>G
c.445C>G (p.Pro149Ala)
c.92C>G
c.415C>G (p.Pro139Ala)
c.346C>G (p.Pro116Ala)
c.191C>G
c.190C>G (p.Pro64Ala)
c.*191C>G (n.*191C>G)
c.301C>G (p.Pro101Ala)
c.238C>G (p.Pro80Ala)
n.614C>G
n.265C>G
c.214C>G (p.Pro72Ala)
7g.128401074G>TCA369174528IMPDH1c.337C>A (p.Pro113Thr)
n.301C>A
c.445C>A (p.Pro149Thr)
c.92C>A
c.415C>A (p.Pro139Thr)
c.346C>A (p.Pro116Thr)
c.191C>A
c.190C>A (p.Pro64Thr)
c.*191C>A (n.*191C>A)
c.301C>A (p.Pro101Thr)
c.238C>A (p.Pro80Thr)
n.614C>A
n.265C>A
c.214C>A (p.Pro72Thr)
7g.128401075C>ACA4471157IMPDH1c.336G>T (p.Thr112=)
n.300G>T
c.444G>T (p.Thr148=)
c.91G>T
c.414G>T (p.Thr138=)
c.345G>T (p.Thr115=)
c.190G>T
c.189G>T (p.Thr63=)
c.*190G>T (n.*190G>T)
c.300G>T (p.Thr100=)
c.237G>T (p.Thr79=)
n.613G>T
n.264G>T
c.213G>T (p.Thr71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401075C=CA1742334801IMPDH1c.336G= (p.Thr112=)
n.300G=
c.444G= (p.Thr148=)
c.91G=
c.414G= (p.Thr138=)
c.345G= (p.Thr115=)
c.190G=
c.189G= (p.Thr63=)
c.*190G= (n.*190G=)
c.300G= (p.Thr100=)
c.237G= (p.Thr79=)
n.613G=
n.264G=
c.213G= (p.Thr71=)
7g.128401075C>GCA457528615IMPDH1c.336G>C (p.Thr112=)
n.300G>C
c.444G>C (p.Thr148=)
c.91G>C
c.414G>C (p.Thr138=)
c.345G>C (p.Thr115=)
c.190G>C
c.189G>C (p.Thr63=)
c.*190G>C (n.*190G>C)
c.300G>C (p.Thr100=)
c.237G>C (p.Thr79=)
n.613G>C
n.264G>C
c.213G>C (p.Thr71=)
7g.128401075C>TCA457528614IMPDH1c.336G>A (p.Thr112=)
n.300G>A
c.444G>A (p.Thr148=)
c.91G>A
c.414G>A (p.Thr138=)
c.345G>A (p.Thr115=)
c.190G>A
c.189G>A (p.Thr63=)
c.*190G>A (n.*190G>A)
c.300G>A (p.Thr100=)
c.237G>A (p.Thr79=)
n.613G>A
n.264G>A
c.213G>A (p.Thr71=)
 dbSNP gnomAD v4
7g.128401076G>ACA4471158IMPDH1c.335C>T (p.Thr112Met)
n.299C>T
c.443C>T (p.Thr148Met)
c.90C>T
c.413C>T (p.Thr138Met)
c.344C>T (p.Thr115Met)
c.189C>T
c.188C>T (p.Thr63Met)
c.*189C>T (n.*189C>T)
c.299C>T (p.Thr100Met)
c.236C>T (p.Thr79Met)
n.612C>T
n.263C>T
c.212C>T (p.Thr71Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401076G>CCA369174529IMPDH1c.335C>G (p.Thr112Arg)
n.299C>G
c.443C>G (p.Thr148Arg)
c.90C>G
c.413C>G (p.Thr138Arg)
c.344C>G (p.Thr115Arg)
c.189C>G
c.188C>G (p.Thr63Arg)
c.*189C>G (n.*189C>G)
c.299C>G (p.Thr100Arg)
c.236C>G (p.Thr79Arg)
n.612C>G
n.263C>G
c.212C>G (p.Thr71Arg)
7g.128401076G=CA1742334805IMPDH1c.335C= (p.Thr112=)
n.299C=
c.443C= (p.Thr148=)
c.90C=
c.413C= (p.Thr138=)
c.344C= (p.Thr115=)
c.189C=
c.188C= (p.Thr63=)
c.*189C= (n.*189C=)
c.299C= (p.Thr100=)
c.236C= (p.Thr79=)
n.612C=
n.263C=
c.212C= (p.Thr71=)
7g.128401076G>TCA369174530IMPDH1c.335C>A (p.Thr112Lys)
n.299C>A
c.443C>A (p.Thr148Lys)
c.90C>A
c.413C>A (p.Thr138Lys)
c.344C>A (p.Thr115Lys)
c.189C>A
c.188C>A (p.Thr63Lys)
c.*189C>A (n.*189C>A)
c.299C>A (p.Thr100Lys)
c.236C>A (p.Thr79Lys)
n.612C>A
n.263C>A
c.212C>A (p.Thr71Lys)
7g.128401077T>ACA369174531IMPDH1c.334A>T (p.Thr112Ser)
n.298A>T
c.442A>T (p.Thr148Ser)
c.89A>T
c.412A>T (p.Thr138Ser)
c.343A>T (p.Thr115Ser)
c.188A>T
c.187A>T (p.Thr63Ser)
c.*188A>T (n.*188A>T)
c.298A>T (p.Thr100Ser)
c.235A>T (p.Thr79Ser)
n.611A>T
n.262A>T
c.211A>T (p.Thr71Ser)
7g.128401077T>CCA4471159IMPDH1c.334A>G (p.Thr112Ala)
n.298A>G
c.442A>G (p.Thr148Ala)
c.89A>G
c.412A>G (p.Thr138Ala)
c.343A>G (p.Thr115Ala)
c.188A>G
c.187A>G (p.Thr63Ala)
c.*188A>G (n.*188A>G)
c.298A>G (p.Thr100Ala)
c.235A>G (p.Thr79Ala)
n.611A>G
n.262A>G
c.211A>G (p.Thr71Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401077T>GCA369174534IMPDH1c.334A>C (p.Thr112Pro)
n.298A>C
c.442A>C (p.Thr148Pro)
c.89A>C
c.412A>C (p.Thr138Pro)
c.343A>C (p.Thr115Pro)
c.188A>C
c.187A>C (p.Thr63Pro)
c.*188A>C (n.*188A>C)
c.298A>C (p.Thr100Pro)
c.235A>C (p.Thr79Pro)
n.611A>C
n.262A>C
c.211A>C (p.Thr71Pro)
7g.128401077T=CA1742334812IMPDH1c.334A= (p.Thr112=)
n.298A=
c.442A= (p.Thr148=)
c.89A=
c.412A= (p.Thr138=)
c.343A= (p.Thr115=)
c.188A=
c.187A= (p.Thr63=)
c.*188A= (n.*188A=)
c.298A= (p.Thr100=)
c.235A= (p.Thr79=)
n.611A=
n.262A=
c.211A= (p.Thr71=)
7g.128401078C>ACA369174535IMPDH1c.333G>T (p.Lys111Asn)
n.297G>T
c.441G>T (p.Lys147Asn)
c.88G>T
c.411G>T (p.Lys137Asn)
c.342G>T (p.Lys114Asn)
c.187G>T
c.186G>T (p.Lys62Asn)
c.*187G>T (n.*187G>T)
c.297G>T (p.Lys99Asn)
c.234G>T (p.Lys78Asn)
n.610G>T
n.261G>T
c.210G>T (p.Lys70Asn)
7g.128401078C>GCA369174536IMPDH1c.333G>C (p.Lys111Asn)
n.297G>C
c.441G>C (p.Lys147Asn)
c.88G>C
c.411G>C (p.Lys137Asn)
c.342G>C (p.Lys114Asn)
c.187G>C
c.186G>C (p.Lys62Asn)
c.*187G>C (n.*187G>C)
c.297G>C (p.Lys99Asn)
c.234G>C (p.Lys78Asn)
n.610G>C
n.261G>C
c.210G>C (p.Lys70Asn)
 dbSNP
7g.128401078C>TCA457528616IMPDH1c.333G>A (p.Lys111=)
n.297G>A
c.441G>A (p.Lys147=)
c.88G>A
c.411G>A (p.Lys137=)
c.342G>A (p.Lys114=)
c.187G>A
c.186G>A (p.Lys62=)
c.*187G>A (n.*187G>A)
c.297G>A (p.Lys99=)
c.234G>A (p.Lys78=)
n.610G>A
n.261G>A
c.210G>A (p.Lys70=)
7g.128401079T>ACA369174541IMPDH1c.332A>T (p.Lys111Met)
n.296A>T
c.440A>T (p.Lys147Met)
c.87A>T
c.410A>T (p.Lys137Met)
c.341A>T (p.Lys114Met)
c.186A>T
c.185A>T (p.Lys62Met)
c.*186A>T (n.*186A>T)
c.296A>T (p.Lys99Met)
c.233A>T (p.Lys78Met)
n.609A>T
n.260A>T
c.209A>T (p.Lys70Met)
 dbSNP gnomAD v3 gnomAD v4
7g.128401079T>CCA369174540IMPDH1c.332A>G (p.Lys111Arg)
n.296A>G
c.440A>G (p.Lys147Arg)
c.87A>G
c.410A>G (p.Lys137Arg)
c.341A>G (p.Lys114Arg)
c.186A>G
c.185A>G (p.Lys62Arg)
c.*186A>G (n.*186A>G)
c.296A>G (p.Lys99Arg)
c.233A>G (p.Lys78Arg)
n.609A>G
n.260A>G
c.209A>G (p.Lys70Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.128401079T>GCA369174539IMPDH1c.332A>C (p.Lys111Thr)
n.296A>C
c.440A>C (p.Lys147Thr)
c.87A>C
c.410A>C (p.Lys137Thr)
c.341A>C (p.Lys114Thr)
c.186A>C
c.185A>C (p.Lys62Thr)
c.*186A>C (n.*186A>C)
c.296A>C (p.Lys99Thr)
c.233A>C (p.Lys78Thr)
n.609A>C
n.260A>C
c.209A>C (p.Lys70Thr)
7g.128401079T=CA1742334814IMPDH1c.332A= (p.Lys111=)
n.296A=
c.440A= (p.Lys147=)
c.87A=
c.410A= (p.Lys137=)
c.341A= (p.Lys114=)
c.186A=
c.185A= (p.Lys62=)
c.*186A= (n.*186A=)
c.296A= (p.Lys99=)
c.233A= (p.Lys78=)
n.609A=
n.260A=
c.209A= (p.Lys70=)
7g.128401080T>ACA369174543IMPDH1c.331A>T (p.Lys111Ter)
n.295A>T
c.439A>T (p.Lys147Ter)
c.86A>T
c.409A>T (p.Lys137Ter)
c.340A>T (p.Lys114Ter)
c.185A>T
c.184A>T (p.Lys62Ter)
c.*185A>T (n.*185A>T)
c.295A>T (p.Lys99Ter)
c.232A>T (p.Lys78Ter)
n.608A>T
n.259A>T
c.208A>T (p.Lys70Ter)
7g.128401080T>CCA369174545IMPDH1c.331A>G (p.Lys111Glu)
n.295A>G
c.439A>G (p.Lys147Glu)
c.86A>G
c.409A>G (p.Lys137Glu)
c.340A>G (p.Lys114Glu)
c.185A>G
c.184A>G (p.Lys62Glu)
c.*185A>G (n.*185A>G)
c.295A>G (p.Lys99Glu)
c.232A>G (p.Lys78Glu)
n.608A>G
n.259A>G
c.208A>G (p.Lys70Glu)
7g.128401080T>GCA369174546IMPDH1c.331A>C (p.Lys111Gln)
n.295A>C
c.439A>C (p.Lys147Gln)
c.86A>C
c.409A>C (p.Lys137Gln)
c.340A>C (p.Lys114Gln)
c.185A>C
c.184A>C (p.Lys62Gln)
c.*185A>C (n.*185A>C)
c.295A>C (p.Lys99Gln)
c.232A>C (p.Lys78Gln)
n.608A>C
n.259A>C
c.208A>C (p.Lys70Gln)
7g.128401081C>ACA457528617IMPDH1c.330G>T (p.Leu110=)
n.294G>T
c.438G>T (p.Leu146=)
c.85G>T
c.408G>T (p.Leu136=)
c.339G>T (p.Leu113=)
c.184G>T
c.183G>T (p.Leu61=)
c.*184G>T (n.*184G>T)
c.294G>T (p.Leu98=)
c.231G>T (p.Leu77=)
n.607G>T
n.258G>T
c.207G>T (p.Leu69=)
7g.128401081C>GCA457528619IMPDH1c.330G>C (p.Leu110=)
n.294G>C
c.438G>C (p.Leu146=)
c.85G>C
c.408G>C (p.Leu136=)
c.339G>C (p.Leu113=)
c.184G>C
c.183G>C (p.Leu61=)
c.*184G>C (n.*184G>C)
c.294G>C (p.Leu98=)
c.231G>C (p.Leu77=)
n.607G>C
n.258G>C
c.207G>C (p.Leu69=)
7g.128401081C>TCA457528618IMPDH1c.330G>A (p.Leu110=)
n.294G>A
c.438G>A (p.Leu146=)
c.85G>A
c.408G>A (p.Leu136=)
c.339G>A (p.Leu113=)
c.184G>A
c.183G>A (p.Leu61=)
c.*184G>A (n.*184G>A)
c.294G>A (p.Leu98=)
c.231G>A (p.Leu77=)
n.607G>A
n.258G>A
c.207G>A (p.Leu69=)
 COSMIC
7g.128401082A>CCA369174547IMPDH1c.329T>G (p.Leu110Arg)
n.293T>G
c.437T>G (p.Leu146Arg)
c.84T>G
c.407T>G (p.Leu136Arg)
c.338T>G (p.Leu113Arg)
c.183T>G
c.182T>G (p.Leu61Arg)
c.*183T>G (n.*183T>G)
c.293T>G (p.Leu98Arg)
c.230T>G (p.Leu77Arg)
n.606T>G
n.257T>G
c.206T>G (p.Leu69Arg)
7g.128401082A>GCA369174548IMPDH1c.329T>C (p.Leu110Pro)
n.293T>C
c.437T>C (p.Leu146Pro)
c.84T>C
c.407T>C (p.Leu136Pro)
c.338T>C (p.Leu113Pro)
c.183T>C
c.182T>C (p.Leu61Pro)
c.*183T>C (n.*183T>C)
c.293T>C (p.Leu98Pro)
c.230T>C (p.Leu77Pro)
n.606T>C
n.257T>C
c.206T>C (p.Leu69Pro)
 ClinVar dbSNP
7g.128401082A>TCA369174549IMPDH1c.329T>A (p.Leu110Gln)
n.293T>A
c.437T>A (p.Leu146Gln)
c.84T>A
c.407T>A (p.Leu136Gln)
c.338T>A (p.Leu113Gln)
c.183T>A
c.182T>A (p.Leu61Gln)
c.*183T>A (n.*183T>A)
c.293T>A (p.Leu98Gln)
c.230T>A (p.Leu77Gln)
n.606T>A
n.257T>A
c.206T>A (p.Leu69Gln)
7g.128401083G>ACA457528620IMPDH1c.328C>T (p.Leu110=)
n.292C>T
c.436C>T (p.Leu146=)
c.83C>T
c.406C>T (p.Leu136=)
c.337C>T (p.Leu113=)
c.182C>T
c.181C>T (p.Leu61=)
c.*182C>T (n.*182C>T)
c.292C>T (p.Leu98=)
c.229C>T (p.Leu77=)
n.605C>T
n.256C>T
c.205C>T (p.Leu69=)
7g.128401083G>CCA369174550IMPDH1c.328C>G (p.Leu110Val)
n.292C>G
c.436C>G (p.Leu146Val)
c.83C>G
c.406C>G (p.Leu136Val)
c.337C>G (p.Leu113Val)
c.182C>G
c.181C>G (p.Leu61Val)
c.*182C>G (n.*182C>G)
c.292C>G (p.Leu98Val)
c.229C>G (p.Leu77Val)
n.605C>G
n.256C>G
c.205C>G (p.Leu69Val)
7g.128401083G=CA1742334823IMPDH1c.328C= (p.Leu110=)
n.292C=
c.436C= (p.Leu146=)
c.83C=
c.406C= (p.Leu136=)
c.337C= (p.Leu113=)
c.182C=
c.181C= (p.Leu61=)
c.*182C= (n.*182C=)
c.292C= (p.Leu98=)
c.229C= (p.Leu77=)
n.605C=
n.256C=
c.205C= (p.Leu69=)
7g.128401083G>TCA369174552IMPDH1c.328C>A (p.Leu110Met)
n.292C>A
c.436C>A (p.Leu146Met)
c.83C>A
c.406C>A (p.Leu136Met)
c.337C>A (p.Leu113Met)
c.182C>A
c.181C>A (p.Leu61Met)
c.*182C>A (n.*182C>A)
c.292C>A (p.Leu98Met)
c.229C>A (p.Leu77Met)
n.605C>A
n.256C>A
c.205C>A (p.Leu69Met)
 dbSNP
7g.128401084C>ACA457528621IMPDH1c.327G>T (p.Thr109=)
n.291G>T
c.435G>T (p.Thr145=)
c.82G>T
c.405G>T (p.Thr135=)
c.336G>T (p.Thr112=)
c.181G>T
c.180G>T (p.Thr60=)
c.*181G>T (n.*181G>T)
c.291G>T (p.Thr97=)
c.228G>T (p.Thr76=)
n.604G>T
n.255G>T
c.204G>T (p.Thr68=)
 gnomAD v4
7g.128401084C=CA1742334829IMPDH1c.327G= (p.Thr109=)
n.291G=
c.435G= (p.Thr145=)
c.82G=
c.405G= (p.Thr135=)
c.336G= (p.Thr112=)
c.181G=
c.180G= (p.Thr60=)
c.*181G= (n.*181G=)
c.291G= (p.Thr97=)
c.228G= (p.Thr76=)
n.604G=
n.255G=
c.204G= (p.Thr68=)
7g.128401084C>GCA457528622IMPDH1c.327G>C (p.Thr109=)
n.291G>C
c.435G>C (p.Thr145=)
c.82G>C
c.405G>C (p.Thr135=)
c.336G>C (p.Thr112=)
c.181G>C
c.180G>C (p.Thr60=)
c.*181G>C (n.*181G>C)
c.291G>C (p.Thr97=)
c.228G>C (p.Thr76=)
n.604G>C
n.255G>C
c.204G>C (p.Thr68=)
 gnomAD v4
7g.128401084C>TCA4471160IMPDH1c.327G>A (p.Thr109=)
n.291G>A
c.435G>A (p.Thr145=)
c.82G>A
c.405G>A (p.Thr135=)
c.336G>A (p.Thr112=)
c.181G>A
c.180G>A (p.Thr60=)
c.*181G>A (n.*181G>A)
c.291G>A (p.Thr97=)
c.228G>A (p.Thr76=)
n.604G>A
n.255G>A
c.204G>A (p.Thr68=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401085G>ACA4471161IMPDH1c.326C>T (p.Thr109Met)
n.290C>T
c.434C>T (p.Thr145Met)
c.81C>T
c.404C>T (p.Thr135Met)
c.335C>T (p.Thr112Met)
c.180C>T
c.179C>T (p.Thr60Met)
c.*180C>T (n.*180C>T)
c.290C>T (p.Thr97Met)
c.227C>T (p.Thr76Met)
n.603C>T
n.254C>T
c.203C>T (p.Thr68Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401085G>CCA369174556IMPDH1c.326C>G (p.Thr109Arg)
n.290C>G
c.434C>G (p.Thr145Arg)
c.81C>G
c.404C>G (p.Thr135Arg)
c.335C>G (p.Thr112Arg)
c.180C>G
c.179C>G (p.Thr60Arg)
c.*180C>G (n.*180C>G)
c.290C>G (p.Thr97Arg)
c.227C>G (p.Thr76Arg)
n.603C>G
n.254C>G
c.203C>G (p.Thr68Arg)
7g.128401085G=CA1742334834IMPDH1c.326C= (p.Thr109=)
n.290C=
c.434C= (p.Thr145=)
c.81C=
c.404C= (p.Thr135=)
c.335C= (p.Thr112=)
c.180C=
c.179C= (p.Thr60=)
c.*180C= (n.*180C=)
c.290C= (p.Thr97=)
c.227C= (p.Thr76=)
n.603C=
n.254C=
c.203C= (p.Thr68=)
7g.128401085G>TCA369174559IMPDH1c.326C>A (p.Thr109Lys)
n.290C>A
c.434C>A (p.Thr145Lys)
c.81C>A
c.404C>A (p.Thr135Lys)
c.335C>A (p.Thr112Lys)
c.180C>A
c.179C>A (p.Thr60Lys)
c.*180C>A (n.*180C>A)
c.290C>A (p.Thr97Lys)
c.227C>A (p.Thr76Lys)
n.603C>A
n.254C>A
c.203C>A (p.Thr68Lys)
 gnomAD v4
7g.128401086T>ACA369174570IMPDH1c.325A>T (p.Thr109Ser)
n.289A>T
c.433A>T (p.Thr145Ser)
c.80A>T
c.403A>T (p.Thr135Ser)
c.334A>T (p.Thr112Ser)
c.179A>T
c.178A>T (p.Thr60Ser)
c.*179A>T (n.*179A>T)
c.289A>T (p.Thr97Ser)
c.226A>T (p.Thr76Ser)
n.602A>T
n.253A>T
c.202A>T (p.Thr68Ser)
 gnomAD v4
7g.128401086T>CCA369174567IMPDH1c.325A>G (p.Thr109Ala)
n.289A>G
c.433A>G (p.Thr145Ala)
c.80A>G
c.403A>G (p.Thr135Ala)
c.334A>G (p.Thr112Ala)
c.179A>G
c.178A>G (p.Thr60Ala)
c.*179A>G (n.*179A>G)
c.289A>G (p.Thr97Ala)
c.226A>G (p.Thr76Ala)
n.602A>G
n.253A>G
c.202A>G (p.Thr68Ala)
7g.128401086T>GCA369174565IMPDH1c.325A>C (p.Thr109Pro)
n.289A>C
c.433A>C (p.Thr145Pro)
c.80A>C
c.403A>C (p.Thr135Pro)
c.334A>C (p.Thr112Pro)
c.179A>C
c.178A>C (p.Thr60Pro)
c.*179A>C (n.*179A>C)
c.289A>C (p.Thr97Pro)
c.226A>C (p.Thr76Pro)
n.602A>C
n.253A>C
c.202A>C (p.Thr68Pro)
7g.128401087G>ACA457528623IMPDH1c.324C>T (p.Ile108=)
n.288C>T
c.432C>T (p.Ile144=)
c.79C>T
c.402C>T (p.Ile134=)
c.333C>T (p.Ile111=)
c.178C>T
c.177C>T (p.Ile59=)
c.*178C>T (n.*178C>T)
c.288C>T (p.Ile96=)
c.225C>T (p.Ile75=)
n.601C>T
n.252C>T
c.201C>T (p.Ile67=)
 dbSNP gnomAD v2 gnomAD v4
7g.128401087G>CCA369174574IMPDH1c.324C>G (p.Ile108Met)
n.288C>G
c.432C>G (p.Ile144Met)
c.79C>G
c.402C>G (p.Ile134Met)
c.333C>G (p.Ile111Met)
c.178C>G
c.177C>G (p.Ile59Met)
c.*178C>G (n.*178C>G)
c.288C>G (p.Ile96Met)
c.225C>G (p.Ile75Met)
n.601C>G
n.252C>G
c.201C>G (p.Ile67Met)
 dbSNP gnomAD v3 gnomAD v4
7g.128401087G=CA1742334837IMPDH1c.324C= (p.Ile108=)
n.288C=
c.432C= (p.Ile144=)
c.79C=
c.402C= (p.Ile134=)
c.333C= (p.Ile111=)
c.178C=
c.177C= (p.Ile59=)
c.*178C= (n.*178C=)
c.288C= (p.Ile96=)
c.225C= (p.Ile75=)
n.601C=
n.252C=
c.201C= (p.Ile67=)
7g.128401087G>TCA457528624IMPDH1c.324C>A (p.Ile108=)
n.288C>A
c.432C>A (p.Ile144=)
c.79C>A
c.402C>A (p.Ile134=)
c.333C>A (p.Ile111=)
c.178C>A
c.177C>A (p.Ile59=)
c.*178C>A (n.*178C>A)
c.288C>A (p.Ile96=)
c.225C>A (p.Ile75=)
n.601C>A
n.252C>A
c.201C>A (p.Ile67=)
7g.128401088A>CCA369174577IMPDH1c.323T>G (p.Ile108Ser)
n.287T>G
c.431T>G (p.Ile144Ser)
c.78T>G
c.401T>G (p.Ile134Ser)
c.332T>G (p.Ile111Ser)
c.177T>G
c.176T>G (p.Ile59Ser)
c.*177T>G (n.*177T>G)
c.287T>G (p.Ile96Ser)
c.224T>G (p.Ile75Ser)
n.600T>G
n.251T>G
c.200T>G (p.Ile67Ser)
7g.128401088A>GCA369174578IMPDH1c.323T>C (p.Ile108Thr)
n.287T>C
c.431T>C (p.Ile144Thr)
c.78T>C
c.401T>C (p.Ile134Thr)
c.332T>C (p.Ile111Thr)
c.177T>C
c.176T>C (p.Ile59Thr)
c.*177T>C (n.*177T>C)
c.287T>C (p.Ile96Thr)
c.224T>C (p.Ile75Thr)
n.600T>C
n.251T>C
c.200T>C (p.Ile67Thr)
7g.128401088A>TCA369174579IMPDH1c.323T>A (p.Ile108Asn)
n.287T>A
c.431T>A (p.Ile144Asn)
c.78T>A
c.401T>A (p.Ile134Asn)
c.332T>A (p.Ile111Asn)
c.177T>A
c.176T>A (p.Ile59Asn)
c.*177T>A (n.*177T>A)
c.287T>A (p.Ile96Asn)
c.224T>A (p.Ile75Asn)
n.600T>A
n.251T>A
c.200T>A (p.Ile67Asn)
7g.128401089T>ACA369174583IMPDH1c.322A>T (p.Ile108Phe)
n.286A>T
c.430A>T (p.Ile144Phe)
c.77A>T
c.400A>T (p.Ile134Phe)
c.331A>T (p.Ile111Phe)
c.176A>T
c.175A>T (p.Ile59Phe)
c.*176A>T (n.*176A>T)
c.286A>T (p.Ile96Phe)
c.223A>T (p.Ile75Phe)
n.599A>T
n.250A>T
c.199A>T (p.Ile67Phe)
7g.128401089T>CCA369174586IMPDH1c.322A>G (p.Ile108Val)
n.286A>G
c.430A>G (p.Ile144Val)
c.77A>G
c.400A>G (p.Ile134Val)
c.331A>G (p.Ile111Val)
c.176A>G
c.175A>G (p.Ile59Val)
c.*176A>G (n.*176A>G)
c.286A>G (p.Ile96Val)
c.223A>G (p.Ile75Val)
n.599A>G
n.250A>G
c.199A>G (p.Ile67Val)
7g.128401089T>GCA369174589IMPDH1c.322A>C (p.Ile108Leu)
n.286A>C
c.430A>C (p.Ile144Leu)
c.77A>C
c.400A>C (p.Ile134Leu)
c.331A>C (p.Ile111Leu)
c.176A>C
c.175A>C (p.Ile59Leu)
c.*176A>C (n.*176A>C)
c.286A>C (p.Ile96Leu)
c.223A>C (p.Ile75Leu)
n.599A>C
n.250A>C
c.199A>C (p.Ile67Leu)
7g.128401090C>ACA369174596IMPDH1c.321G>T (p.Lys107Asn)
n.285G>T
c.429G>T (p.Lys143Asn)
c.76G>T
c.399G>T (p.Lys133Asn)
c.330G>T (p.Lys110Asn)
c.175G>T
c.174G>T (p.Lys58Asn)
c.*175G>T (n.*175G>T)
c.285G>T (p.Lys95Asn)
c.222G>T (p.Lys74Asn)
n.598G>T
n.249G>T
c.198G>T (p.Lys66Asn)
7g.128401090C=CA1742334839IMPDH1c.321G= (p.Lys107=)
n.285G=
c.429G= (p.Lys143=)
c.76G=
c.399G= (p.Lys133=)
c.330G= (p.Lys110=)
c.175G=
c.174G= (p.Lys58=)
c.*175G= (n.*175G=)
c.285G= (p.Lys95=)
c.222G= (p.Lys74=)
n.598G=
n.249G=
c.198G= (p.Lys66=)
7g.128401090C>GCA369174608IMPDH1c.321G>C (p.Lys107Asn)
n.285G>C
c.429G>C (p.Lys143Asn)
c.76G>C
c.399G>C (p.Lys133Asn)
c.330G>C (p.Lys110Asn)
c.175G>C
c.174G>C (p.Lys58Asn)
c.*175G>C (n.*175G>C)
c.285G>C (p.Lys95Asn)
c.222G>C (p.Lys74Asn)
n.598G>C
n.249G>C
c.198G>C (p.Lys66Asn)
7g.128401090C>TCA4471162IMPDH1c.321G>A (p.Lys107=)
n.285G>A
c.429G>A (p.Lys143=)
c.76G>A
c.399G>A (p.Lys133=)
c.330G>A (p.Lys110=)
c.175G>A
c.174G>A (p.Lys58=)
c.*175G>A (n.*175G>A)
c.285G>A (p.Lys95=)
c.222G>A (p.Lys74=)
n.598G>A
n.249G>A
c.198G>A (p.Lys66=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401091T>ACA369174615IMPDH1c.320A>T (p.Lys107Met)
n.284A>T
c.428A>T (p.Lys143Met)
c.75A>T
c.398A>T (p.Lys133Met)
c.329A>T (p.Lys110Met)
c.174A>T
c.173A>T (p.Lys58Met)
c.*174A>T (n.*174A>T)
c.284A>T (p.Lys95Met)
c.221A>T (p.Lys74Met)
n.597A>T
n.248A>T
c.197A>T (p.Lys66Met)
7g.128401091T>CCA369174618IMPDH1c.320A>G (p.Lys107Arg)
n.284A>G
c.428A>G (p.Lys143Arg)
c.75A>G
c.398A>G (p.Lys133Arg)
c.329A>G (p.Lys110Arg)
c.174A>G
c.173A>G (p.Lys58Arg)
c.*174A>G (n.*174A>G)
c.284A>G (p.Lys95Arg)
c.221A>G (p.Lys74Arg)
n.597A>G
n.248A>G
c.197A>G (p.Lys66Arg)
7g.128401091T>GCA369174621IMPDH1c.320A>C (p.Lys107Thr)
n.284A>C
c.428A>C (p.Lys143Thr)
c.75A>C
c.398A>C (p.Lys133Thr)
c.329A>C (p.Lys110Thr)
c.174A>C
c.173A>C (p.Lys58Thr)
c.*174A>C (n.*174A>C)
c.284A>C (p.Lys95Thr)
c.221A>C (p.Lys74Thr)
n.597A>C
n.248A>C
c.197A>C (p.Lys66Thr)
7g.128401092T>ACA369174630IMPDH1c.319A>T (p.Lys107Ter)
n.283A>T
c.427A>T (p.Lys143Ter)
c.74A>T
c.397A>T (p.Lys133Ter)
c.328A>T (p.Lys110Ter)
c.173A>T
c.172A>T (p.Lys58Ter)
c.*173A>T (n.*173A>T)
c.283A>T (p.Lys95Ter)
c.220A>T (p.Lys74Ter)
n.596A>T
n.247A>T
c.196A>T (p.Lys66Ter)
7g.128401092T>CCA369174624IMPDH1c.319A>G (p.Lys107Glu)
n.283A>G
c.427A>G (p.Lys143Glu)
c.74A>G
c.397A>G (p.Lys133Glu)
c.328A>G (p.Lys110Glu)
c.173A>G
c.172A>G (p.Lys58Glu)
c.*173A>G (n.*173A>G)
c.283A>G (p.Lys95Glu)
c.220A>G (p.Lys74Glu)
n.596A>G
n.247A>G
c.196A>G (p.Lys66Glu)
7g.128401092T>GCA369174626IMPDH1c.319A>C (p.Lys107Gln)
n.283A>C
c.427A>C (p.Lys143Gln)
c.74A>C
c.397A>C (p.Lys133Gln)
c.328A>C (p.Lys110Gln)
c.173A>C
c.172A>C (p.Lys58Gln)
c.*173A>C (n.*173A>C)
c.283A>C (p.Lys95Gln)
c.220A>C (p.Lys74Gln)
n.596A>C
n.247A>C
c.196A>C (p.Lys66Gln)
7g.128401093C>ACA166129622IMPDH1c.318G>T (p.Arg106=)
n.282G>T
c.426G>T (p.Arg142=)
c.73G>T
c.396G>T (p.Arg132=)
c.327G>T (p.Arg109=)
c.172G>T
c.171G>T (p.Arg57=)
c.*172G>T (n.*172G>T)
c.282G>T (p.Arg94=)
c.219G>T (p.Arg73=)
n.595G>T
n.246G>T
c.195G>T (p.Arg65=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.128401093C=CA1742334841IMPDH1c.318G= (p.Arg106=)
n.282G=
c.426G= (p.Arg142=)
c.73G=
c.396G= (p.Arg132=)
c.327G= (p.Arg109=)
c.172G=
c.171G= (p.Arg57=)
c.*172G= (n.*172G=)
c.282G= (p.Arg94=)
c.219G= (p.Arg73=)
n.595G=
n.246G=
c.195G= (p.Arg65=)
7g.128401093C>GCA457528625IMPDH1c.318G>C (p.Arg106=)
n.282G>C
c.426G>C (p.Arg142=)
c.73G>C
c.396G>C (p.Arg132=)
c.327G>C (p.Arg109=)
c.172G>C
c.171G>C (p.Arg57=)
c.*172G>C (n.*172G>C)
c.282G>C (p.Arg94=)
c.219G>C (p.Arg73=)
n.595G>C
n.246G>C
c.195G>C (p.Arg65=)
7g.128401093C>TCA457528626IMPDH1c.318G>A (p.Arg106=)
n.282G>A
c.426G>A (p.Arg142=)
c.73G>A
c.396G>A (p.Arg132=)
c.327G>A (p.Arg109=)
c.172G>A
c.171G>A (p.Arg57=)
c.*172G>A (n.*172G>A)
c.282G>A (p.Arg94=)
c.219G>A (p.Arg73=)
n.595G>A
n.246G>A
c.195G>A (p.Arg65=)
7g.128401094C>ACA369174633IMPDH1c.317G>T (p.Arg106Leu)
n.281G>T
c.425G>T (p.Arg142Leu)
c.72G>T
c.395G>T (p.Arg132Leu)
c.326G>T (p.Arg109Leu)
c.171G>T
c.170G>T (p.Arg57Leu)
c.*171G>T (n.*171G>T)
c.281G>T (p.Arg94Leu)
c.218G>T (p.Arg73Leu)
n.594G>T
n.245G>T
c.194G>T (p.Arg65Leu)
7g.128401094C=CA1742334844IMPDH1c.317G= (p.Arg106=)
n.281G=
c.425G= (p.Arg142=)
c.72G=
c.395G= (p.Arg132=)
c.326G= (p.Arg109=)
c.171G=
c.170G= (p.Arg57=)
c.*171G= (n.*171G=)
c.281G= (p.Arg94=)
c.218G= (p.Arg73=)
n.594G=
n.245G=
c.194G= (p.Arg65=)
7g.128401094C>GCA369174634IMPDH1c.317G>C (p.Arg106Pro)
n.281G>C
c.425G>C (p.Arg142Pro)
c.72G>C
c.395G>C (p.Arg132Pro)
c.326G>C (p.Arg109Pro)
c.171G>C
c.170G>C (p.Arg57Pro)
c.*171G>C (n.*171G>C)
c.281G>C (p.Arg94Pro)
c.218G>C (p.Arg73Pro)
n.594G>C
n.245G>C
c.194G>C (p.Arg65Pro)
7g.128401094C>TCA4471163IMPDH1c.317G>A (p.Arg106Gln)
n.281G>A
c.425G>A (p.Arg142Gln)
c.72G>A
c.395G>A (p.Arg132Gln)
c.326G>A (p.Arg109Gln)
c.171G>A
c.170G>A (p.Arg57Gln)
c.*171G>A (n.*171G>A)
c.281G>A (p.Arg94Gln)
c.218G>A (p.Arg73Gln)
n.594G>A
n.245G>A
c.194G>A (p.Arg65Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401095G>ACA4471164IMPDH1c.316C>T (p.Arg106Trp)
n.280C>T
c.424C>T (p.Arg142Trp)
c.71C>T
c.394C>T (p.Arg132Trp)
c.325C>T (p.Arg109Trp)
c.170C>T
c.169C>T (p.Arg57Trp)
c.*170C>T (n.*170C>T)
c.280C>T (p.Arg94Trp)
c.217C>T (p.Arg73Trp)
n.593C>T
n.244C>T
c.193C>T (p.Arg65Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401095G>CCA369174639IMPDH1c.316C>G (p.Arg106Gly)
n.280C>G
c.424C>G (p.Arg142Gly)
c.71C>G
c.394C>G (p.Arg132Gly)
c.325C>G (p.Arg109Gly)
c.170C>G
c.169C>G (p.Arg57Gly)
c.*170C>G (n.*170C>G)
c.280C>G (p.Arg94Gly)
c.217C>G (p.Arg73Gly)
n.593C>G
n.244C>G
c.193C>G (p.Arg65Gly)
7g.128401095G=CA1742334848IMPDH1c.316C= (p.Arg106=)
n.280C=
c.424C= (p.Arg142=)
c.71C=
c.394C= (p.Arg132=)
c.325C= (p.Arg109=)
c.170C=
c.169C= (p.Arg57=)
c.*170C= (n.*170C=)
c.280C= (p.Arg94=)
c.217C= (p.Arg73=)
n.593C=
n.244C=
c.193C= (p.Arg65=)
7g.128401095G>TCA4471165IMPDH1c.316C>A (p.Arg106=)
n.280C>A
c.424C>A (p.Arg142=)
c.71C>A
c.394C>A (p.Arg132=)
c.325C>A (p.Arg109=)
c.170C>A
c.169C>A (p.Arg57=)
c.*170C>A (n.*170C>A)
c.280C>A (p.Arg94=)
c.217C>A (p.Arg73=)
n.593C>A
n.244C>A
c.193C>A (p.Arg65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128401096G>ACA457528627IMPDH1c.315C>T (p.Thr105=)
n.279C>T
c.423C>T (p.Thr141=)
c.70C>T
c.393C>T (p.Thr131=)
c.324C>T (p.Thr108=)
c.169C>T
c.168C>T (p.Thr56=)
c.*169C>T (n.*169C>T)
c.279C>T (p.Thr93=)
c.216C>T (p.Thr72=)
n.592C>T
n.243C>T
c.192C>T (p.Thr64=)
7g.128401096G>CCA457528628IMPDH1c.315C>G (p.Thr105=)
n.279C>G
c.423C>G (p.Thr141=)
c.70C>G
c.393C>G (p.Thr131=)
c.324C>G (p.Thr108=)
c.169C>G
c.168C>G (p.Thr56=)
c.*169C>G (n.*169C>G)
c.279C>G (p.Thr93=)
c.216C>G (p.Thr72=)
n.592C>G
n.243C>G
c.192C>G (p.Thr64=)
7g.128401096G>TCA457528629IMPDH1c.315C>A (p.Thr105=)
n.279C>A
c.423C>A (p.Thr141=)
c.70C>A
c.393C>A (p.Thr131=)
c.324C>A (p.Thr108=)
c.169C>A
c.168C>A (p.Thr56=)
c.*169C>A (n.*169C>A)
c.279C>A (p.Thr93=)
c.216C>A (p.Thr72=)
n.592C>A
n.243C>A
c.192C>A (p.Thr64=)
7g.128401097G>ACA369174646IMPDH1c.314C>T (p.Thr105Ile)
n.278C>T
c.422C>T (p.Thr141Ile)
c.69C>T
c.392C>T (p.Thr131Ile)
c.323C>T (p.Thr108Ile)
c.168C>T
c.167C>T (p.Thr56Ile)
c.*168C>T (n.*168C>T)
c.278C>T (p.Thr93Ile)
c.215C>T (p.Thr72Ile)
n.591C>T
n.242C>T
c.191C>T (p.Thr64Ile)
7g.128401097G>CCA369174648IMPDH1c.314C>G (p.Thr105Ser)
n.278C>G
c.422C>G (p.Thr141Ser)
c.69C>G
c.392C>G (p.Thr131Ser)
c.323C>G (p.Thr108Ser)
c.168C>G
c.167C>G (p.Thr56Ser)
c.*168C>G (n.*168C>G)
c.278C>G (p.Thr93Ser)
c.215C>G (p.Thr72Ser)
n.591C>G
n.242C>G
c.191C>G (p.Thr64Ser)
7g.128401097G>TCA369174657IMPDH1c.314C>A (p.Thr105Asn)
n.278C>A
c.422C>A (p.Thr141Asn)
c.69C>A
c.392C>A (p.Thr131Asn)
c.323C>A (p.Thr108Asn)
c.168C>A
c.167C>A (p.Thr56Asn)
c.*168C>A (n.*168C>A)
c.278C>A (p.Thr93Asn)
c.215C>A (p.Thr72Asn)
n.591C>A
n.242C>A
c.191C>A (p.Thr64Asn)
7g.128401098delCA2684778692IMPDH1c.313del (p.Thr105ProfsTer6)
n.277del
c.421del (p.Thr141ProfsTer6)
c.68del
c.391del (p.Thr131ProfsTer6)
c.322del (p.Thr108ProfsTer6)
c.167del
c.166del (p.Thr56ProfsTer6)
c.*167del (n.*167del)
c.277del (p.Thr93ProfsTer6)
c.214del (p.Thr72ProfsTer6)
n.590del
n.241del
c.190del (p.Thr64ProfsTer6)
 gnomAD v4
7g.128401098T>ACA369174660IMPDH1c.313A>T (p.Thr105Ser)
n.277A>T
c.421A>T (p.Thr141Ser)
c.68A>T
c.391A>T (p.Thr131Ser)
c.322A>T (p.Thr108Ser)
c.167A>T
c.166A>T (p.Thr56Ser)
c.*167A>T (n.*167A>T)
c.277A>T (p.Thr93Ser)
c.214A>T (p.Thr72Ser)
n.590A>T
n.241A>T
c.190A>T (p.Thr64Ser)
7g.128401098T>CCA369174663IMPDH1c.313A>G (p.Thr105Ala)
n.277A>G
c.421A>G (p.Thr141Ala)
c.68A>G
c.391A>G (p.Thr131Ala)
c.322A>G (p.Thr108Ala)
c.167A>G
c.166A>G (p.Thr56Ala)
c.*167A>G (n.*167A>G)
c.277A>G (p.Thr93Ala)
c.214A>G (p.Thr72Ala)
n.590A>G
n.241A>G
c.190A>G (p.Thr64Ala)
7g.128401098T>GCA369174665IMPDH1c.313A>C (p.Thr105Pro)
n.277A>C
c.421A>C (p.Thr141Pro)
c.68A>C
c.391A>C (p.Thr131Pro)
c.322A>C (p.Thr108Pro)
c.167A>C
c.166A>C (p.Thr56Pro)
c.*167A>C (n.*167A>C)
c.277A>C (p.Thr93Pro)
c.214A>C (p.Thr72Pro)
n.590A>C
n.241A>C
c.190A>C (p.Thr64Pro)
7g.128401099C>ACA457528630IMPDH1c.312G>T (p.Leu104=)
n.276G>T
c.420G>T (p.Leu140=)
c.67G>T
c.390G>T (p.Leu130=)
c.321G>T (p.Leu107=)
c.166G>T
c.165G>T (p.Leu55=)
c.*166G>T (n.*166G>T)
c.276G>T (p.Leu92=)
c.213G>T (p.Leu71=)
n.589G>T
n.240G>T
c.189G>T (p.Leu63=)
 gnomAD v4
7g.128401099C>GCA457528631IMPDH1c.312G>C (p.Leu104=)
n.276G>C
c.420G>C (p.Leu140=)
c.67G>C
c.390G>C (p.Leu130=)
c.321G>C (p.Leu107=)
c.166G>C
c.165G>C (p.Leu55=)
c.*166G>C (n.*166G>C)
c.276G>C (p.Leu92=)
c.213G>C (p.Leu71=)
n.589G>C
n.240G>C
c.189G>C (p.Leu63=)
 ClinVar
7g.128401099C>TCA457528632IMPDH1c.312G>A (p.Leu104=)
n.276G>A
c.420G>A (p.Leu140=)
c.67G>A
c.390G>A (p.Leu130=)
c.321G>A (p.Leu107=)
c.166G>A
c.165G>A (p.Leu55=)
c.*166G>A (n.*166G>A)
c.276G>A (p.Leu92=)
c.213G>A (p.Leu71=)
n.589G>A
n.240G>A
c.189G>A (p.Leu63=)
7g.128401100A>CCA369174666IMPDH1c.311T>G (p.Leu104Arg)
n.275T>G
c.419T>G (p.Leu140Arg)
c.66T>G
c.389T>G (p.Leu130Arg)
c.320T>G (p.Leu107Arg)
c.165T>G
c.164T>G (p.Leu55Arg)
c.*165T>G (n.*165T>G)
c.275T>G (p.Leu92Arg)
c.212T>G (p.Leu71Arg)
n.588T>G
n.239T>G
c.188T>G (p.Leu63Arg)
7g.128401100A>GCA369174669IMPDH1c.311T>C (p.Leu104Pro)
n.275T>C
c.419T>C (p.Leu140Pro)
c.66T>C
c.389T>C (p.Leu130Pro)
c.320T>C (p.Leu107Pro)
c.165T>C
c.164T>C (p.Leu55Pro)
c.*165T>C (n.*165T>C)
c.275T>C (p.Leu92Pro)
c.212T>C (p.Leu71Pro)
n.588T>C
n.239T>C
c.188T>C (p.Leu63Pro)
7g.128401100A>TCA369174668IMPDH1c.311T>A (p.Leu104Gln)
n.275T>A
c.419T>A (p.Leu140Gln)
c.66T>A
c.389T>A (p.Leu130Gln)
c.320T>A (p.Leu107Gln)
c.165T>A
c.164T>A (p.Leu55Gln)
c.*165T>A (n.*165T>A)
c.275T>A (p.Leu92Gln)
c.212T>A (p.Leu71Gln)
n.588T>A
n.239T>A
c.188T>A (p.Leu63Gln)
7g.128401101G>ACA457528633IMPDH1c.310C>T (p.Leu104=)
n.274C>T
c.418C>T (p.Leu140=)
c.65C>T
c.388C>T (p.Leu130=)
c.319C>T (p.Leu107=)
c.164C>T
c.163C>T (p.Leu55=)
c.*164C>T (n.*164C>T)
c.274C>T (p.Leu92=)
c.211C>T (p.Leu71=)
n.587C>T
n.238C>T
c.187C>T (p.Leu63=)
 dbSNP gnomAD v4
7g.128401101G>CCA369174670IMPDH1c.310C>G (p.Leu104Val)
n.274C>G
c.418C>G (p.Leu140Val)
c.65C>G
c.388C>G (p.Leu130Val)
c.319C>G (p.Leu107Val)
c.164C>G
c.163C>G (p.Leu55Val)
c.*164C>G (n.*164C>G)
c.274C>G (p.Leu92Val)
c.211C>G (p.Leu71Val)
n.587C>G
n.238C>G
c.187C>G (p.Leu63Val)
 gnomAD v4
7g.128401101G=CA1742334863IMPDH1c.310C= (p.Leu104=)
n.274C=
c.418C= (p.Leu140=)
c.65C=
c.388C= (p.Leu130=)
c.319C= (p.Leu107=)
c.164C=
c.163C= (p.Leu55=)
c.*164C= (n.*164C=)
c.274C= (p.Leu92=)
c.211C= (p.Leu71=)
n.587C=
n.238C=
c.187C= (p.Leu63=)
7g.128401101G>TCA369174673IMPDH1c.310C>A (p.Leu104Met)
n.274C>A
c.418C>A (p.Leu140Met)
c.65C>A
c.388C>A (p.Leu130Met)
c.319C>A (p.Leu107Met)
c.164C>A
c.163C>A (p.Leu55Met)
c.*164C>A (n.*164C>A)
c.274C>A (p.Leu92Met)
c.211C>A (p.Leu71Met)
n.587C>A
n.238C>A
c.187C>A (p.Leu63Met)
7g.128401102G>ACA457528634IMPDH1c.309C>T (p.Ala103=)
n.273C>T
c.417C>T (p.Ala139=)
c.64C>T
c.387C>T (p.Ala129=)
c.318C>T (p.Ala106=)
c.163C>T
c.162C>T (p.Ala54=)
c.*163C>T (n.*163C>T)
c.273C>T (p.Ala91=)
c.210C>T (p.Ala70=)
n.586C>T
n.237C>T
c.186C>T (p.Ala62=)
 dbSNP gnomAD v4
7g.128401102G>CCA457528636IMPDH1c.309C>G (p.Ala103=)
n.273C>G
c.417C>G (p.Ala139=)
c.64C>G
c.387C>G (p.Ala129=)
c.318C>G (p.Ala106=)
c.163C>G
c.162C>G (p.Ala54=)
c.*163C>G (n.*163C>G)
c.273C>G (p.Ala91=)
c.210C>G (p.Ala70=)
n.586C>G
n.237C>G
c.186C>G (p.Ala62=)
7g.128401102G>TCA457528635IMPDH1c.309C>A (p.Ala103=)
n.273C>A
c.417C>A (p.Ala139=)
c.64C>A
c.387C>A (p.Ala129=)
c.318C>A (p.Ala106=)
c.163C>A
c.162C>A (p.Ala54=)
c.*163C>A (n.*163C>A)
c.273C>A (p.Ala91=)
c.210C>A (p.Ala70=)
n.586C>A
n.237C>A
c.186C>A (p.Ala62=)
7g.128401103G>ACA369174681IMPDH1c.308C>T (p.Ala103Val)
n.272C>T
c.416C>T (p.Ala139Val)
c.63C>T
c.386C>T (p.Ala129Val)
c.317C>T (p.Ala106Val)
c.162C>T
c.161C>T (p.Ala54Val)
c.*162C>T (n.*162C>T)
c.272C>T (p.Ala91Val)
c.209C>T (p.Ala70Val)
n.585C>T
n.236C>T
c.185C>T (p.Ala62Val)
7g.128401103G>CCA369174693IMPDH1c.308C>G (p.Ala103Gly)
n.272C>G
c.416C>G (p.Ala139Gly)
c.63C>G
c.386C>G (p.Ala129Gly)
c.317C>G (p.Ala106Gly)
c.162C>G
c.161C>G (p.Ala54Gly)
c.*162C>G (n.*162C>G)
c.272C>G (p.Ala91Gly)
c.209C>G (p.Ala70Gly)
n.585C>G
n.236C>G
c.185C>G (p.Ala62Gly)
7g.128401103G>TCA369174688IMPDH1c.308C>A (p.Ala103Asp)
n.272C>A
c.416C>A (p.Ala139Asp)
c.63C>A
c.386C>A (p.Ala129Asp)
c.317C>A (p.Ala106Asp)
c.162C>A
c.161C>A (p.Ala54Asp)
c.*162C>A (n.*162C>A)
c.272C>A (p.Ala91Asp)
c.209C>A (p.Ala70Asp)
n.585C>A
n.236C>A
c.185C>A (p.Ala62Asp)
7g.128401104C>ACA369174702IMPDH1c.307G>T (p.Ala103Ser)
n.271G>T
c.415G>T (p.Ala139Ser)
c.62G>T
c.385G>T (p.Ala129Ser)
c.316G>T (p.Ala106Ser)
c.161G>T
c.160G>T (p.Ala54Ser)
c.*161G>T (n.*161G>T)
c.271G>T (p.Ala91Ser)
c.208G>T (p.Ala70Ser)
n.584G>T
n.235G>T
c.184G>T (p.Ala62Ser)
7g.128401104C>GCA369174726IMPDH1c.307G>C (p.Ala103Pro)
n.271G>C
c.415G>C (p.Ala139Pro)
c.62G>C
c.385G>C (p.Ala129Pro)
c.316G>C (p.Ala106Pro)
c.161G>C
c.160G>C (p.Ala54Pro)
c.*161G>C (n.*161G>C)
c.271G>C (p.Ala91Pro)
c.208G>C (p.Ala70Pro)
n.584G>C
n.235G>C
c.184G>C (p.Ala62Pro)
7g.128401104C>TCA369174720IMPDH1c.307G>A (p.Ala103Thr)
n.271G>A
c.415G>A (p.Ala139Thr)
c.62G>A
c.385G>A (p.Ala129Thr)
c.316G>A (p.Ala106Thr)
c.161G>A
c.160G>A (p.Ala54Thr)
c.*161G>A (n.*161G>A)
c.271G>A (p.Ala91Thr)
c.208G>A (p.Ala70Thr)
n.584G>A
n.235G>A
c.184G>A (p.Ala62Thr)
7g.128401105T>ACA457528637IMPDH1c.306A>T (p.Ser102=)
n.270A>T
c.414A>T (p.Ser138=)
c.61A>T
c.384A>T (p.Ser128=)
c.315A>T (p.Ser105=)
c.160A>T
c.159A>T (p.Ser53=)
c.*160A>T (n.*160A>T)
c.270A>T (p.Ser90=)
c.207A>T (p.Ser69=)
n.583A>T
n.234A>T
c.183A>T (p.Ser61=)
7g.128401105T>CCA457528638IMPDH1c.306A>G (p.Ser102=)
n.270A>G
c.414A>G (p.Ser138=)
c.61A>G
c.384A>G (p.Ser128=)
c.315A>G (p.Ser105=)
c.160A>G
c.159A>G (p.Ser53=)
c.*160A>G (n.*160A>G)
c.270A>G (p.Ser90=)
c.207A>G (p.Ser69=)
n.583A>G
n.234A>G
c.183A>G (p.Ser61=)
7g.128401105T>GCA457528639IMPDH1c.306A>C (p.Ser102=)
n.270A>C
c.414A>C (p.Ser138=)
c.61A>C
c.384A>C (p.Ser128=)
c.315A>C (p.Ser105=)
c.160A>C
c.159A>C (p.Ser53=)
c.*160A>C (n.*160A>C)
c.270A>C (p.Ser90=)
c.207A>C (p.Ser69=)
n.583A>C
n.234A>C
c.183A>C (p.Ser61=)
7g.128401106G>ACA369174729IMPDH1c.305C>T (p.Ser102Leu)
n.269C>T
c.413C>T (p.Ser138Leu)
c.60C>T
c.383C>T (p.Ser128Leu)
c.314C>T (p.Ser105Leu)
c.159C>T
c.158C>T (p.Ser53Leu)
c.*159C>T (n.*159C>T)
c.269C>T (p.Ser90Leu)
c.206C>T (p.Ser69Leu)
n.582C>T
n.233C>T
c.182C>T (p.Ser61Leu)
 gnomAD v4
7g.128401106G>CCA369174733IMPDH1c.305C>G (p.Ser102Ter)
n.269C>G
c.413C>G (p.Ser138Ter)
c.60C>G
c.383C>G (p.Ser128Ter)
c.314C>G (p.Ser105Ter)
c.159C>G
c.158C>G (p.Ser53Ter)
c.*159C>G (n.*159C>G)
c.269C>G (p.Ser90Ter)
c.206C>G (p.Ser69Ter)
n.582C>G
n.233C>G
c.182C>G (p.Ser61Ter)
7g.128401106G>TCA369174731IMPDH1c.305C>A (p.Ser102Ter)
n.269C>A
c.413C>A (p.Ser138Ter)
c.60C>A
c.383C>A (p.Ser128Ter)
c.314C>A (p.Ser105Ter)
c.159C>A
c.158C>A (p.Ser53Ter)
c.*159C>A (n.*159C>A)
c.269C>A (p.Ser90Ter)
c.206C>A (p.Ser69Ter)
n.582C>A
n.233C>A
c.182C>A (p.Ser61Ter)
7g.128401107A>CCA369174737IMPDH1c.304T>G (p.Ser102Ala)
n.268T>G
c.412T>G (p.Ser138Ala)
c.59T>G
c.382T>G (p.Ser128Ala)
c.313T>G (p.Ser105Ala)
c.158T>G
c.157T>G (p.Ser53Ala)
c.*158T>G (n.*158T>G)
c.268T>G (p.Ser90Ala)
c.205T>G (p.Ser69Ala)
n.581T>G
n.232T>G
c.181T>G (p.Ser61Ala)
7g.128401107A>GCA369174740IMPDH1c.304T>C (p.Ser102Pro)
n.268T>C
c.412T>C (p.Ser138Pro)
c.59T>C
c.382T>C (p.Ser128Pro)
c.313T>C (p.Ser105Pro)
c.158T>C
c.157T>C (p.Ser53Pro)
c.*158T>C (n.*158T>C)
c.268T>C (p.Ser90Pro)
c.205T>C (p.Ser69Pro)
n.581T>C
n.232T>C
c.181T>C (p.Ser61Pro)
7g.128401107A>TCA369174745IMPDH1c.304T>A (p.Ser102Thr)
n.268T>A
c.412T>A (p.Ser138Thr)
c.59T>A
c.382T>A (p.Ser128Thr)
c.313T>A (p.Ser105Thr)
c.158T>A
c.157T>A (p.Ser53Thr)
c.*158T>A (n.*158T>A)
c.268T>A (p.Ser90Thr)
c.205T>A (p.Ser69Thr)
n.581T>A
n.232T>A
c.181T>A (p.Ser61Thr)
7g.128401108G>ACA4471166IMPDH1c.303C>T (p.Thr101=)
n.267C>T
c.411C>T (p.Thr137=)
c.58C>T
c.381C>T (p.Thr127=)
c.312C>T (p.Thr104=)
c.157C>T
c.156C>T (p.Thr52=)
c.*157C>T (n.*157C>T)
c.267C>T (p.Thr89=)
c.204C>T (p.Thr68=)
n.580C>T
n.231C>T
c.180C>T (p.Thr60=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401108G>CCA457528641IMPDH1c.303C>G (p.Thr101=)
n.267C>G
c.411C>G (p.Thr137=)
c.58C>G
c.381C>G (p.Thr127=)
c.312C>G (p.Thr104=)
c.157C>G
c.156C>G (p.Thr52=)
c.*157C>G (n.*157C>G)
c.267C>G (p.Thr89=)
c.204C>G (p.Thr68=)
n.580C>G
n.231C>G
c.180C>G (p.Thr60=)
7g.128401108G=CA1742334867IMPDH1c.303C= (p.Thr101=)
n.267C=
c.411C= (p.Thr137=)
c.58C=
c.381C= (p.Thr127=)
c.312C= (p.Thr104=)
c.157C=
c.156C= (p.Thr52=)
c.*157C= (n.*157C=)
c.267C= (p.Thr89=)
c.204C= (p.Thr68=)
n.580C=
n.231C=
c.180C= (p.Thr60=)
7g.128401108G>TCA457528640IMPDH1c.303C>A (p.Thr101=)
n.267C>A
c.411C>A (p.Thr137=)
c.58C>A
c.381C>A (p.Thr127=)
c.312C>A (p.Thr104=)
c.157C>A
c.156C>A (p.Thr52=)
c.*157C>A (n.*157C>A)
c.267C>A (p.Thr89=)
c.204C>A (p.Thr68=)
n.580C>A
n.231C>A
c.180C>A (p.Thr60=)
7g.128401109G>ACA369174754IMPDH1c.302C>T (p.Thr101Ile)
n.266C>T
c.410C>T (p.Thr137Ile)
c.57C>T
c.380C>T (p.Thr127Ile)
c.311C>T (p.Thr104Ile)
c.156C>T
c.155C>T (p.Thr52Ile)
c.*156C>T (n.*156C>T)
c.266C>T (p.Thr89Ile)
c.203C>T (p.Thr68Ile)
n.579C>T
n.230C>T
c.179C>T (p.Thr60Ile)
 gnomAD v4
7g.128401109G>CCA369174755IMPDH1c.302C>G (p.Thr101Ser)
n.266C>G
c.410C>G (p.Thr137Ser)
c.57C>G
c.380C>G (p.Thr127Ser)
c.311C>G (p.Thr104Ser)
c.156C>G
c.155C>G (p.Thr52Ser)
c.*156C>G (n.*156C>G)
c.266C>G (p.Thr89Ser)
c.203C>G (p.Thr68Ser)
n.579C>G
n.230C>G
c.179C>G (p.Thr60Ser)
7g.128401109G>TCA369174756IMPDH1c.302C>A (p.Thr101Asn)
n.266C>A
c.410C>A (p.Thr137Asn)
c.57C>A
c.380C>A (p.Thr127Asn)
c.311C>A (p.Thr104Asn)
c.156C>A
c.155C>A (p.Thr52Asn)
c.*156C>A (n.*156C>A)
c.266C>A (p.Thr89Asn)
c.203C>A (p.Thr68Asn)
n.579C>A
n.230C>A
c.179C>A (p.Thr60Asn)
 COSMIC COSMIC
7g.128401110T>ACA369174759IMPDH1c.301A>T (p.Thr101Ser)
n.265A>T
c.409A>T (p.Thr137Ser)
c.56A>T
c.379A>T (p.Thr127Ser)
c.310A>T (p.Thr104Ser)
c.155A>T
c.154A>T (p.Thr52Ser)
c.*155A>T (n.*155A>T)
c.265A>T (p.Thr89Ser)
c.202A>T (p.Thr68Ser)
n.578A>T
n.229A>T
c.178A>T (p.Thr60Ser)
7g.128401110T>CCA369174762IMPDH1c.301A>G (p.Thr101Ala)
n.265A>G
c.409A>G (p.Thr137Ala)
c.56A>G
c.379A>G (p.Thr127Ala)
c.310A>G (p.Thr104Ala)
c.155A>G
c.154A>G (p.Thr52Ala)
c.*155A>G (n.*155A>G)
c.265A>G (p.Thr89Ala)
c.202A>G (p.Thr68Ala)
n.578A>G
n.229A>G
c.178A>G (p.Thr60Ala)
7g.128401110T>GCA369174764IMPDH1c.301A>C (p.Thr101Pro)
n.265A>C
c.409A>C (p.Thr137Pro)
c.56A>C
c.379A>C (p.Thr127Pro)
c.310A>C (p.Thr104Pro)
c.155A>C
c.154A>C (p.Thr52Pro)
c.*155A>C (n.*155A>C)
c.265A>C (p.Thr89Pro)
c.202A>C (p.Thr68Pro)
n.578A>C
n.229A>C
c.178A>C (p.Thr60Pro)
7g.128401111C>ACA457528642IMPDH1c.300G>T (p.Leu100=)
n.264G>T
c.408G>T (p.Leu136=)
c.55G>T
c.378G>T (p.Leu126=)
c.309G>T (p.Leu103=)
c.154G>T
c.153G>T (p.Leu51=)
c.*154G>T (n.*154G>T)
c.264G>T (p.Leu88=)
c.201G>T (p.Leu67=)
n.577G>T
n.228G>T
c.177G>T (p.Leu59=)
7g.128401111C>GCA457528643IMPDH1c.300G>C (p.Leu100=)
n.264G>C
c.408G>C (p.Leu136=)
c.55G>C
c.378G>C (p.Leu126=)
c.309G>C (p.Leu103=)
c.154G>C
c.153G>C (p.Leu51=)
c.*154G>C (n.*154G>C)
c.264G>C (p.Leu88=)
c.201G>C (p.Leu67=)
n.577G>C
n.228G>C
c.177G>C (p.Leu59=)
7g.128401111C>TCA457528644IMPDH1c.300G>A (p.Leu100=)
n.264G>A
c.408G>A (p.Leu136=)
c.55G>A
c.378G>A (p.Leu126=)
c.309G>A (p.Leu103=)
c.154G>A
c.153G>A (p.Leu51=)
c.*154G>A (n.*154G>A)
c.264G>A (p.Leu88=)
c.201G>A (p.Leu67=)
n.577G>A
n.228G>A
c.177G>A (p.Leu59=)
7g.128401112A>CCA369174788IMPDH1c.299T>G (p.Leu100Arg)
n.263T>G
c.407T>G (p.Leu136Arg)
c.54T>G
c.377T>G (p.Leu126Arg)
c.308T>G (p.Leu103Arg)
c.153T>G
c.152T>G (p.Leu51Arg)
c.*153T>G (n.*153T>G)
c.263T>G (p.Leu88Arg)
c.200T>G (p.Leu67Arg)
n.576T>G
n.227T>G
c.176T>G (p.Leu59Arg)
7g.128401112A>GCA369174785IMPDH1c.299T>C (p.Leu100Pro)
n.263T>C
c.407T>C (p.Leu136Pro)
c.54T>C
c.377T>C (p.Leu126Pro)
c.308T>C (p.Leu103Pro)
c.153T>C
c.152T>C (p.Leu51Pro)
c.*153T>C (n.*153T>C)
c.263T>C (p.Leu88Pro)
c.200T>C (p.Leu67Pro)
n.576T>C
n.227T>C
c.176T>C (p.Leu59Pro)
7g.128401112A>TCA369174773IMPDH1c.299T>A (p.Leu100Gln)
n.263T>A
c.407T>A (p.Leu136Gln)
c.54T>A
c.377T>A (p.Leu126Gln)
c.308T>A (p.Leu103Gln)
c.153T>A
c.152T>A (p.Leu51Gln)
c.*153T>A (n.*153T>A)
c.263T>A (p.Leu88Gln)
c.200T>A (p.Leu67Gln)
n.576T>A
n.227T>A
c.176T>A (p.Leu59Gln)
7g.128401113G>ACA4471167IMPDH1c.298C>T (p.Leu100=)
n.262C>T
c.406C>T (p.Leu136=)
c.53C>T
c.376C>T (p.Leu126=)
c.307C>T (p.Leu103=)
c.152C>T
c.151C>T (p.Leu51=)
c.*152C>T (n.*152C>T)
c.262C>T (p.Leu88=)
c.199C>T (p.Leu67=)
n.575C>T
n.226C>T
c.175C>T (p.Leu59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.128401113G>CCA369174791IMPDH1c.298C>G (p.Leu100Val)
n.262C>G
c.406C>G (p.Leu136Val)
c.53C>G
c.376C>G (p.Leu126Val)
c.307C>G (p.Leu103Val)
c.152C>G
c.151C>G (p.Leu51Val)
c.*152C>G (n.*152C>G)
c.262C>G (p.Leu88Val)
c.199C>G (p.Leu67Val)
n.575C>G
n.226C>G
c.175C>G (p.Leu59Val)
7g.128401113G=CA1742334873IMPDH1c.298C= (p.Leu100=)
n.262C=
c.406C= (p.Leu136=)
c.53C=
c.376C= (p.Leu126=)
c.307C= (p.Leu103=)
c.152C=
c.151C= (p.Leu51=)
c.*152C= (n.*152C=)
c.262C= (p.Leu88=)
c.199C= (p.Leu67=)
n.575C=
n.226C=
c.175C= (p.Leu59=)
7g.128401113G>TCA369174796IMPDH1c.298C>A (p.Leu100Met)
n.262C>A
c.406C>A (p.Leu136Met)
c.53C>A
c.376C>A (p.Leu126Met)
c.307C>A (p.Leu103Met)
c.152C>A
c.151C>A (p.Leu51Met)
c.*152C>A (n.*152C>A)
c.262C>A (p.Leu88Met)
c.199C>A (p.Leu67Met)
n.575C>A
n.226C>A
c.175C>A (p.Leu59Met)
7g.128401114G>ACA457528645IMPDH1c.297C>T (p.Asp99=)
n.261C>T
c.405C>T (p.Asp135=)
c.52C>T
c.375C>T (p.Asp125=)
c.306C>T (p.Asp102=)
c.151C>T
c.150C>T (p.Asp50=)
c.*151C>T (n.*151C>T)
c.261C>T (p.Asp87=)
c.198C>T (p.Asp66=)
n.574C>T
n.225C>T
c.174C>T (p.Asp58=)
7g.128401114G>CCA369174801IMPDH1c.297C>G (p.Asp99Glu)
n.261C>G
c.405C>G (p.Asp135Glu)
c.52C>G
c.375C>G (p.Asp125Glu)
c.306C>G (p.Asp102Glu)
c.151C>G
c.150C>G (p.Asp50Glu)
c.*151C>G (n.*151C>G)
c.261C>G (p.Asp87Glu)
c.198C>G (p.Asp66Glu)
n.574C>G
n.225C>G
c.174C>G (p.Asp58Glu)
7g.128401114G>TCA369174803IMPDH1c.297C>A (p.Asp99Glu)
n.261C>A
c.405C>A (p.Asp135Glu)
c.52C>A
c.375C>A (p.Asp125Glu)
c.306C>A (p.Asp102Glu)
c.151C>A
c.150C>A (p.Asp50Glu)
c.*151C>A (n.*151C>A)
c.261C>A (p.Asp87Glu)
c.198C>A (p.Asp66Glu)
n.574C>A
n.225C>A
c.174C>A (p.Asp58Glu)
7g.128401115T>ACA369174807IMPDH1c.296A>T (p.Asp99Val)
n.260A>T
c.404A>T (p.Asp135Val)
c.51A>T
c.374A>T (p.Asp125Val)
c.305A>T (p.Asp102Val)
c.150A>T
c.149A>T (p.Asp50Val)
c.*150A>T (n.*150A>T)
c.260A>T (p.Asp87Val)
c.197A>T (p.Asp66Val)
n.573A>T
n.224A>T
c.173A>T (p.Asp58Val)
7g.128401115T>CCA369174808IMPDH1c.296A>G (p.Asp99Gly)
n.260A>G
c.404A>G (p.Asp135Gly)
c.51A>G
c.374A>G (p.Asp125Gly)
c.305A>G (p.Asp102Gly)
c.150A>G
c.149A>G (p.Asp50Gly)
c.*150A>G (n.*150A>G)
c.260A>G (p.Asp87Gly)
c.197A>G (p.Asp66Gly)
n.573A>G
n.224A>G
c.173A>G (p.Asp58Gly)
 COSMIC
7g.128401115T>GCA369174810IMPDH1c.296A>C (p.Asp99Ala)
n.260A>C
c.404A>C (p.Asp135Ala)
c.51A>C
c.374A>C (p.Asp125Ala)
c.305A>C (p.Asp102Ala)
c.150A>C
c.149A>C (p.Asp50Ala)
c.*150A>C (n.*150A>C)
c.260A>C (p.Asp87Ala)
c.197A>C (p.Asp66Ala)
n.573A>C
n.224A>C
c.173A>C (p.Asp58Ala)

Number of alleles fetched