Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.128398558G>ACA4470984IMPDH1c.822C>T (p.Thr274=)
n.805C>T
c.930C>T (p.Thr310=)
c.562C>T
c.900C>T (p.Thr300=)
c.831C>T (p.Thr277=)
n.519C>T
c.695C>T
c.672C>T (p.Thr224=)
c.660C>T (p.Thr220=)
c.805C>T (n.805C>T)
c.600C>T (p.Thr200=)
c.723C>T (p.Thr241=)
c.675C>T (p.Thr225=)
c.699C>T (p.Thr233=)
c.312C>T (p.Thr104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398558G>CCA457528354IMPDH1c.822C>G (p.Thr274=)
n.805C>G
c.930C>G (p.Thr310=)
c.562C>G
c.900C>G (p.Thr300=)
c.831C>G (p.Thr277=)
n.519C>G
c.695C>G
c.672C>G (p.Thr224=)
c.660C>G (p.Thr220=)
c.805C>G (n.805C>G)
c.600C>G (p.Thr200=)
c.723C>G (p.Thr241=)
c.675C>G (p.Thr225=)
c.699C>G (p.Thr233=)
c.312C>G (p.Thr104=)
 dbSNP
7g.128398558G=CA1742328376IMPDH1c.822C= (p.Thr274=)
n.805C=
c.930C= (p.Thr310=)
c.562C=
c.900C= (p.Thr300=)
c.831C= (p.Thr277=)
n.519C=
c.695C=
c.672C= (p.Thr224=)
c.660C= (p.Thr220=)
c.805C= (n.805C=)
c.600C= (p.Thr200=)
c.723C= (p.Thr241=)
c.675C= (p.Thr225=)
c.699C= (p.Thr233=)
c.312C= (p.Thr104=)
7g.128398558G>TCA457528356IMPDH1c.822C>A (p.Thr274=)
n.805C>A
c.930C>A (p.Thr310=)
c.562C>A
c.900C>A (p.Thr300=)
c.831C>A (p.Thr277=)
n.519C>A
c.695C>A
c.672C>A (p.Thr224=)
c.660C>A (p.Thr220=)
c.805C>A (n.805C>A)
c.600C>A (p.Thr200=)
c.723C>A (p.Thr241=)
c.675C>A (p.Thr225=)
c.699C>A (p.Thr233=)
c.312C>A (p.Thr104=)
7g.128398559G>ACA369169418IMPDH1c.821C>T (p.Thr274Ile)
n.804C>T
c.929C>T (p.Thr310Ile)
c.561C>T
c.899C>T (p.Thr300Ile)
c.830C>T (p.Thr277Ile)
n.518C>T
c.694C>T
c.671C>T (p.Thr224Ile)
c.659C>T (p.Thr220Ile)
c.804C>T (n.804C>T)
c.599C>T (p.Thr200Ile)
c.722C>T (p.Thr241Ile)
c.674C>T (p.Thr225Ile)
c.698C>T (p.Thr233Ile)
c.311C>T (p.Thr104Ile)
7g.128398559G>CCA369169421IMPDH1c.821C>G (p.Thr274Ser)
n.804C>G
c.929C>G (p.Thr310Ser)
c.561C>G
c.899C>G (p.Thr300Ser)
c.830C>G (p.Thr277Ser)
n.518C>G
c.694C>G
c.671C>G (p.Thr224Ser)
c.659C>G (p.Thr220Ser)
c.804C>G (n.804C>G)
c.599C>G (p.Thr200Ser)
c.722C>G (p.Thr241Ser)
c.674C>G (p.Thr225Ser)
c.698C>G (p.Thr233Ser)
c.311C>G (p.Thr104Ser)
7g.128398559G>TCA369169429IMPDH1c.821C>A (p.Thr274Asn)
n.804C>A
c.929C>A (p.Thr310Asn)
c.561C>A
c.899C>A (p.Thr300Asn)
c.830C>A (p.Thr277Asn)
n.518C>A
c.694C>A
c.671C>A (p.Thr224Asn)
c.659C>A (p.Thr220Asn)
c.804C>A (n.804C>A)
c.599C>A (p.Thr200Asn)
c.722C>A (p.Thr241Asn)
c.674C>A (p.Thr225Asn)
c.698C>A (p.Thr233Asn)
c.311C>A (p.Thr104Asn)
7g.128398560T>ACA369169432IMPDH1c.820A>T (p.Thr274Ser)
n.803A>T
c.928A>T (p.Thr310Ser)
c.560A>T
c.898A>T (p.Thr300Ser)
c.829A>T (p.Thr277Ser)
n.517A>T
c.693A>T
c.670A>T (p.Thr224Ser)
c.658A>T (p.Thr220Ser)
c.803A>T (n.803A>T)
c.598A>T (p.Thr200Ser)
c.721A>T (p.Thr241Ser)
c.673A>T (p.Thr225Ser)
c.697A>T (p.Thr233Ser)
c.310A>T (p.Thr104Ser)
7g.128398560T>CCA369169445IMPDH1c.820A>G (p.Thr274Ala)
n.803A>G
c.928A>G (p.Thr310Ala)
c.560A>G
c.898A>G (p.Thr300Ala)
c.829A>G (p.Thr277Ala)
n.517A>G
c.693A>G
c.670A>G (p.Thr224Ala)
c.658A>G (p.Thr220Ala)
c.803A>G (n.803A>G)
c.598A>G (p.Thr200Ala)
c.721A>G (p.Thr241Ala)
c.673A>G (p.Thr225Ala)
c.697A>G (p.Thr233Ala)
c.310A>G (p.Thr104Ala)
7g.128398560T>GCA16043423IMPDH1c.820A>C (p.Thr274Pro)
n.803A>C
c.928A>C (p.Thr310Pro)
c.560A>C
c.898A>C (p.Thr300Pro)
c.829A>C (p.Thr277Pro)
n.517A>C
c.693A>C
c.670A>C (p.Thr224Pro)
c.658A>C (p.Thr220Pro)
c.803A>C (n.803A>C)
c.598A>C (p.Thr200Pro)
c.721A>C (p.Thr241Pro)
c.673A>C (p.Thr225Pro)
c.697A>C (p.Thr233Pro)
c.310A>C (p.Thr104Pro)
 ClinVar dbSNP
7g.128398560T=CA1742328387IMPDH1c.820A= (p.Thr274=)
n.803A=
c.928A= (p.Thr310=)
c.560A=
c.898A= (p.Thr300=)
c.829A= (p.Thr277=)
n.517A=
c.693A=
c.670A= (p.Thr224=)
c.658A= (p.Thr220=)
c.803A= (n.803A=)
c.598A= (p.Thr200=)
c.721A= (p.Thr241=)
c.673A= (p.Thr225=)
c.697A= (p.Thr233=)
c.310A= (p.Thr104=)
7g.128398561G>ACA457528361IMPDH1c.819C>T (p.Arg273=)
n.802C>T
c.927C>T (p.Arg309=)
c.559C>T
c.897C>T (p.Arg299=)
c.828C>T (p.Arg276=)
n.516C>T
c.692C>T
c.669C>T (p.Arg223=)
c.657C>T (p.Arg219=)
c.802C>T (n.802C>T)
c.597C>T (p.Arg199=)
c.720C>T (p.Arg240=)
c.672C>T (p.Arg224=)
c.696C>T (p.Arg232=)
c.309C>T (p.Arg103=)
 dbSNP gnomAD v3 gnomAD v4
7g.128398561G>CCA457528362IMPDH1c.819C>G (p.Arg273=)
n.802C>G
c.927C>G (p.Arg309=)
c.559C>G
c.897C>G (p.Arg299=)
c.828C>G (p.Arg276=)
n.516C>G
c.692C>G
c.669C>G (p.Arg223=)
c.657C>G (p.Arg219=)
c.802C>G (n.802C>G)
c.597C>G (p.Arg199=)
c.720C>G (p.Arg240=)
c.672C>G (p.Arg224=)
c.696C>G (p.Arg232=)
c.309C>G (p.Arg103=)
7g.128398561G=CA1742328393IMPDH1c.819C= (p.Arg273=)
n.802C=
c.927C= (p.Arg309=)
c.559C=
c.897C= (p.Arg299=)
c.828C= (p.Arg276=)
n.516C=
c.692C=
c.669C= (p.Arg223=)
c.657C= (p.Arg219=)
c.802C= (n.802C=)
c.597C= (p.Arg199=)
c.720C= (p.Arg240=)
c.672C= (p.Arg224=)
c.696C= (p.Arg232=)
c.309C= (p.Arg103=)
7g.128398561G>TCA457528364IMPDH1c.819C>A (p.Arg273=)
n.802C>A
c.927C>A (p.Arg309=)
c.559C>A
c.897C>A (p.Arg299=)
c.828C>A (p.Arg276=)
n.516C>A
c.692C>A
c.669C>A (p.Arg223=)
c.657C>A (p.Arg219=)
c.802C>A (n.802C>A)
c.597C>A (p.Arg199=)
c.720C>A (p.Arg240=)
c.672C>A (p.Arg224=)
c.696C>A (p.Arg232=)
c.309C>A (p.Arg103=)
 gnomAD v4
7g.128398562C>ACA369169451IMPDH1c.818G>T (p.Arg273Leu)
n.801G>T
c.926G>T (p.Arg309Leu)
c.558G>T
c.896G>T (p.Arg299Leu)
c.827G>T (p.Arg276Leu)
n.515G>T
c.691G>T
c.668G>T (p.Arg223Leu)
c.656G>T (p.Arg219Leu)
c.801G>T (n.801G>T)
c.596G>T (p.Arg199Leu)
c.719G>T (p.Arg240Leu)
c.671G>T (p.Arg224Leu)
c.695G>T (p.Arg232Leu)
c.308G>T (p.Arg103Leu)
7g.128398562C=CA1742328398IMPDH1c.818G= (p.Arg273=)
n.801G=
c.926G= (p.Arg309=)
c.558G=
c.896G= (p.Arg299=)
c.827G= (p.Arg276=)
n.515G=
c.691G=
c.668G= (p.Arg223=)
c.656G= (p.Arg219=)
c.801G= (n.801G=)
c.596G= (p.Arg199=)
c.719G= (p.Arg240=)
c.671G= (p.Arg224=)
c.695G= (p.Arg232=)
c.308G= (p.Arg103=)
7g.128398562C>GCA257385IMPDH1c.818G>C (p.Arg273Pro)
n.801G>C
c.926G>C (p.Arg309Pro)
c.558G>C
c.896G>C (p.Arg299Pro)
c.827G>C (p.Arg276Pro)
n.515G>C
c.691G>C
c.668G>C (p.Arg223Pro)
c.656G>C (p.Arg219Pro)
c.801G>C (n.801G>C)
c.596G>C (p.Arg199Pro)
c.719G>C (p.Arg240Pro)
c.671G>C (p.Arg224Pro)
c.695G>C (p.Arg232Pro)
c.308G>C (p.Arg103Pro)
 ClinVar dbSNP
7g.128398562C>TCA369169456IMPDH1c.818G>A (p.Arg273His)
n.801G>A
c.926G>A (p.Arg309His)
c.558G>A
c.896G>A (p.Arg299His)
c.827G>A (p.Arg276His)
n.515G>A
c.691G>A
c.668G>A (p.Arg223His)
c.656G>A (p.Arg219His)
c.801G>A (n.801G>A)
c.596G>A (p.Arg199His)
c.719G>A (p.Arg240His)
c.671G>A (p.Arg224His)
c.695G>A (p.Arg232His)
c.308G>A (p.Arg103His)
 dbSNP gnomAD v4
7g.128398563G>ACA4470985IMPDH1c.817C>T (p.Arg273Cys)
n.800C>T
c.925C>T (p.Arg309Cys)
c.557C>T
c.895C>T (p.Arg299Cys)
c.826C>T (p.Arg276Cys)
n.514C>T
c.690C>T
c.667C>T (p.Arg223Cys)
c.655C>T (p.Arg219Cys)
c.800C>T (n.800C>T)
c.595C>T (p.Arg199Cys)
c.718C>T (p.Arg240Cys)
c.670C>T (p.Arg224Cys)
c.694C>T (p.Arg232Cys)
c.307C>T (p.Arg103Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398563G>CCA369169459IMPDH1c.817C>G (p.Arg273Gly)
n.800C>G
c.925C>G (p.Arg309Gly)
c.557C>G
c.895C>G (p.Arg299Gly)
c.826C>G (p.Arg276Gly)
n.514C>G
c.690C>G
c.667C>G (p.Arg223Gly)
c.655C>G (p.Arg219Gly)
c.800C>G (n.800C>G)
c.595C>G (p.Arg199Gly)
c.718C>G (p.Arg240Gly)
c.670C>G (p.Arg224Gly)
c.694C>G (p.Arg232Gly)
c.307C>G (p.Arg103Gly)
 ClinVar
7g.128398563G=CA1742328411IMPDH1c.817C= (p.Arg273=)
n.800C=
c.925C= (p.Arg309=)
c.557C=
c.895C= (p.Arg299=)
c.826C= (p.Arg276=)
n.514C=
c.690C=
c.667C= (p.Arg223=)
c.655C= (p.Arg219=)
c.800C= (n.800C=)
c.595C= (p.Arg199=)
c.718C= (p.Arg240=)
c.670C= (p.Arg224=)
c.694C= (p.Arg232=)
c.307C= (p.Arg103=)
7g.128398563G>TCA369169464IMPDH1c.817C>A (p.Arg273Ser)
n.800C>A
c.925C>A (p.Arg309Ser)
c.557C>A
c.895C>A (p.Arg299Ser)
c.826C>A (p.Arg276Ser)
n.514C>A
c.690C>A
c.667C>A (p.Arg223Ser)
c.655C>A (p.Arg219Ser)
c.800C>A (n.800C>A)
c.595C>A (p.Arg199Ser)
c.718C>A (p.Arg240Ser)
c.670C>A (p.Arg224Ser)
c.694C>A (p.Arg232Ser)
c.307C>A (p.Arg103Ser)
7g.128398564G>ACA457528367IMPDH1c.816C>T (p.Ala272=)
n.799C>T
c.924C>T (p.Ala308=)
c.556C>T
c.894C>T (p.Ala298=)
c.825C>T (p.Ala275=)
n.513C>T
c.689C>T
c.666C>T (p.Ala222=)
c.654C>T (p.Ala218=)
c.799C>T (n.799C>T)
c.594C>T (p.Ala198=)
c.717C>T (p.Ala239=)
c.669C>T (p.Ala223=)
c.693C>T (p.Ala231=)
c.306C>T (p.Ala102=)
7g.128398564G>CCA457528368IMPDH1c.816C>G (p.Ala272=)
n.799C>G
c.924C>G (p.Ala308=)
c.556C>G
c.894C>G (p.Ala298=)
c.825C>G (p.Ala275=)
n.513C>G
c.689C>G
c.666C>G (p.Ala222=)
c.654C>G (p.Ala218=)
c.799C>G (n.799C>G)
c.594C>G (p.Ala198=)
c.717C>G (p.Ala239=)
c.669C>G (p.Ala223=)
c.693C>G (p.Ala231=)
c.306C>G (p.Ala102=)
7g.128398564G>TCA457528369IMPDH1c.816C>A (p.Ala272=)
n.799C>A
c.924C>A (p.Ala308=)
c.556C>A
c.894C>A (p.Ala298=)
c.825C>A (p.Ala275=)
n.513C>A
c.689C>A
c.666C>A (p.Ala222=)
c.654C>A (p.Ala218=)
c.799C>A (n.799C>A)
c.594C>A (p.Ala198=)
c.717C>A (p.Ala239=)
c.669C>A (p.Ala223=)
c.693C>A (p.Ala231=)
c.306C>A (p.Ala102=)
7g.128398565G>ACA369169469IMPDH1c.815C>T (p.Ala272Val)
n.798C>T
c.923C>T (p.Ala308Val)
c.555C>T
c.893C>T (p.Ala298Val)
c.824C>T (p.Ala275Val)
n.512C>T
c.688C>T
c.665C>T (p.Ala222Val)
c.653C>T (p.Ala218Val)
c.798C>T (n.798C>T)
c.593C>T (p.Ala198Val)
c.716C>T (p.Ala239Val)
c.668C>T (p.Ala223Val)
c.692C>T (p.Ala231Val)
c.305C>T (p.Ala102Val)
7g.128398565G>CCA369169468IMPDH1c.815C>G (p.Ala272Gly)
n.798C>G
c.923C>G (p.Ala308Gly)
c.555C>G
c.893C>G (p.Ala298Gly)
c.824C>G (p.Ala275Gly)
n.512C>G
c.688C>G
c.665C>G (p.Ala222Gly)
c.653C>G (p.Ala218Gly)
c.798C>G (n.798C>G)
c.593C>G (p.Ala198Gly)
c.716C>G (p.Ala239Gly)
c.668C>G (p.Ala223Gly)
c.692C>G (p.Ala231Gly)
c.305C>G (p.Ala102Gly)
7g.128398565G>TCA369169467IMPDH1c.815C>A (p.Ala272Asp)
n.798C>A
c.923C>A (p.Ala308Asp)
c.555C>A
c.893C>A (p.Ala298Asp)
c.824C>A (p.Ala275Asp)
n.512C>A
c.688C>A
c.665C>A (p.Ala222Asp)
c.653C>A (p.Ala218Asp)
c.798C>A (n.798C>A)
c.593C>A (p.Ala198Asp)
c.716C>A (p.Ala239Asp)
c.668C>A (p.Ala223Asp)
c.692C>A (p.Ala231Asp)
c.305C>A (p.Ala102Asp)
7g.128398566C>ACA369169470IMPDH1c.814G>T (p.Ala272Ser)
n.797G>T
c.922G>T (p.Ala308Ser)
c.554G>T
c.892G>T (p.Ala298Ser)
c.823G>T (p.Ala275Ser)
n.511G>T
c.687G>T
c.664G>T (p.Ala222Ser)
c.652G>T (p.Ala218Ser)
c.797G>T (n.797G>T)
c.592G>T (p.Ala198Ser)
c.715G>T (p.Ala239Ser)
c.667G>T (p.Ala223Ser)
c.691G>T (p.Ala231Ser)
c.304G>T (p.Ala102Ser)
7g.128398566C=CA1742328423IMPDH1c.814G= (p.Ala272=)
n.797G=
c.922G= (p.Ala308=)
c.554G=
c.892G= (p.Ala298=)
c.823G= (p.Ala275=)
n.511G=
c.687G=
c.664G= (p.Ala222=)
c.652G= (p.Ala218=)
c.797G= (n.797G=)
c.592G= (p.Ala198=)
c.715G= (p.Ala239=)
c.667G= (p.Ala223=)
c.691G= (p.Ala231=)
c.304G= (p.Ala102=)
7g.128398566C>GCA369169472IMPDH1c.814G>C (p.Ala272Pro)
n.797G>C
c.922G>C (p.Ala308Pro)
c.554G>C
c.892G>C (p.Ala298Pro)
c.823G>C (p.Ala275Pro)
n.511G>C
c.687G>C
c.664G>C (p.Ala222Pro)
c.652G>C (p.Ala218Pro)
c.797G>C (n.797G>C)
c.592G>C (p.Ala198Pro)
c.715G>C (p.Ala239Pro)
c.667G>C (p.Ala223Pro)
c.691G>C (p.Ala231Pro)
c.304G>C (p.Ala102Pro)
7g.128398566C>TCA369169473IMPDH1c.814G>A (p.Ala272Thr)
n.797G>A
c.922G>A (p.Ala308Thr)
c.554G>A
c.892G>A (p.Ala298Thr)
c.823G>A (p.Ala275Thr)
n.511G>A
c.687G>A
c.664G>A (p.Ala222Thr)
c.652G>A (p.Ala218Thr)
c.797G>A (n.797G>A)
c.592G>A (p.Ala198Thr)
c.715G>A (p.Ala239Thr)
c.667G>A (p.Ala223Thr)
c.691G>A (p.Ala231Thr)
c.304G>A (p.Ala102Thr)
 ClinVar dbSNP gnomAD v4
7g.128398567G>ACA4470986IMPDH1c.813C>T (p.Ile271=)
n.796C>T
c.921C>T (p.Ile307=)
c.553C>T
c.891C>T (p.Ile297=)
c.822C>T (p.Ile274=)
n.510C>T
c.686C>T
c.663C>T (p.Ile221=)
c.651C>T (p.Ile217=)
c.796C>T (n.796C>T)
c.591C>T (p.Ile197=)
c.714C>T (p.Ile238=)
c.666C>T (p.Ile222=)
c.690C>T (p.Ile230=)
c.303C>T (p.Ile101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.128398567G>CCA369169474IMPDH1c.813C>G (p.Ile271Met)
n.796C>G
c.921C>G (p.Ile307Met)
c.553C>G
c.891C>G (p.Ile297Met)
c.822C>G (p.Ile274Met)
n.510C>G
c.686C>G
c.663C>G (p.Ile221Met)
c.651C>G (p.Ile217Met)
c.796C>G (n.796C>G)
c.591C>G (p.Ile197Met)
c.714C>G (p.Ile238Met)
c.666C>G (p.Ile222Met)
c.690C>G (p.Ile230Met)
c.303C>G (p.Ile101Met)
7g.128398567G=CA1742328430IMPDH1c.813C= (p.Ile271=)
n.796C=
c.921C= (p.Ile307=)
c.553C=
c.891C= (p.Ile297=)
c.822C= (p.Ile274=)
n.510C=
c.686C=
c.663C= (p.Ile221=)
c.651C= (p.Ile217=)
c.796C= (n.796C=)
c.591C= (p.Ile197=)
c.714C= (p.Ile238=)
c.666C= (p.Ile222=)
c.690C= (p.Ile230=)
c.303C= (p.Ile101=)
7g.128398567G>TCA457528373IMPDH1c.813C>A (p.Ile271=)
n.796C>A
c.921C>A (p.Ile307=)
c.553C>A
c.891C>A (p.Ile297=)
c.822C>A (p.Ile274=)
n.510C>A
c.686C>A
c.663C>A (p.Ile221=)
c.651C>A (p.Ile217=)
c.796C>A (n.796C>A)
c.591C>A (p.Ile197=)
c.714C>A (p.Ile238=)
c.666C>A (p.Ile222=)
c.690C>A (p.Ile230=)
c.303C>A (p.Ile101=)
7g.128398568A>CCA369169477IMPDH1c.812T>G (p.Ile271Ser)
n.795T>G
c.920T>G (p.Ile307Ser)
c.552T>G
c.890T>G (p.Ile297Ser)
c.821T>G (p.Ile274Ser)
n.509T>G
c.685T>G
c.662T>G (p.Ile221Ser)
c.650T>G (p.Ile217Ser)
c.795T>G (n.795T>G)
c.590T>G (p.Ile197Ser)
c.713T>G (p.Ile238Ser)
c.665T>G (p.Ile222Ser)
c.689T>G (p.Ile230Ser)
c.302T>G (p.Ile101Ser)
7g.128398568A>GCA369169480IMPDH1c.812T>C (p.Ile271Thr)
n.795T>C
c.920T>C (p.Ile307Thr)
c.552T>C
c.890T>C (p.Ile297Thr)
c.821T>C (p.Ile274Thr)
n.509T>C
c.685T>C
c.662T>C (p.Ile221Thr)
c.650T>C (p.Ile217Thr)
c.795T>C (n.795T>C)
c.590T>C (p.Ile197Thr)
c.713T>C (p.Ile238Thr)
c.665T>C (p.Ile222Thr)
c.689T>C (p.Ile230Thr)
c.302T>C (p.Ile101Thr)
7g.128398568A>TCA369169489IMPDH1c.812T>A (p.Ile271Asn)
n.795T>A
c.920T>A (p.Ile307Asn)
c.552T>A
c.890T>A (p.Ile297Asn)
c.821T>A (p.Ile274Asn)
n.509T>A
c.685T>A
c.662T>A (p.Ile221Asn)
c.650T>A (p.Ile217Asn)
c.795T>A (n.795T>A)
c.590T>A (p.Ile197Asn)
c.713T>A (p.Ile238Asn)
c.665T>A (p.Ile222Asn)
c.689T>A (p.Ile230Asn)
c.302T>A (p.Ile101Asn)
7g.128398569T>ACA369169495IMPDH1c.811A>T (p.Ile271Phe)
n.794A>T
c.919A>T (p.Ile307Phe)
c.551A>T
c.889A>T (p.Ile297Phe)
c.820A>T (p.Ile274Phe)
n.508A>T
c.684A>T
c.661A>T (p.Ile221Phe)
c.649A>T (p.Ile217Phe)
c.794A>T (n.794A>T)
c.589A>T (p.Ile197Phe)
c.712A>T (p.Ile238Phe)
c.664A>T (p.Ile222Phe)
c.688A>T (p.Ile230Phe)
c.301A>T (p.Ile101Phe)
7g.128398569T>CCA369169497IMPDH1c.811A>G (p.Ile271Val)
n.794A>G
c.919A>G (p.Ile307Val)
c.551A>G
c.889A>G (p.Ile297Val)
c.820A>G (p.Ile274Val)
n.508A>G
c.684A>G
c.661A>G (p.Ile221Val)
c.649A>G (p.Ile217Val)
c.794A>G (n.794A>G)
c.589A>G (p.Ile197Val)
c.712A>G (p.Ile238Val)
c.664A>G (p.Ile222Val)
c.688A>G (p.Ile230Val)
c.301A>G (p.Ile101Val)
 dbSNP gnomAD v2 gnomAD v4
7g.128398569T>GCA369169498IMPDH1c.811A>C (p.Ile271Leu)
n.794A>C
c.919A>C (p.Ile307Leu)
c.551A>C
c.889A>C (p.Ile297Leu)
c.820A>C (p.Ile274Leu)
n.508A>C
c.684A>C
c.661A>C (p.Ile221Leu)
c.649A>C (p.Ile217Leu)
c.794A>C (n.794A>C)
c.589A>C (p.Ile197Leu)
c.712A>C (p.Ile238Leu)
c.664A>C (p.Ile222Leu)
c.688A>C (p.Ile230Leu)
c.301A>C (p.Ile101Leu)
 dbSNP
7g.128398569T=CA1742328436IMPDH1c.811A= (p.Ile271=)
n.794A=
c.919A= (p.Ile307=)
c.551A=
c.889A= (p.Ile297=)
c.820A= (p.Ile274=)
n.508A=
c.684A=
c.661A= (p.Ile221=)
c.649A= (p.Ile217=)
c.794A= (n.794A=)
c.589A= (p.Ile197=)
c.712A= (p.Ile238=)
c.664A= (p.Ile222=)
c.688A= (p.Ile230=)
c.301A= (p.Ile101=)
7g.128398570G>ACA457528378IMPDH1c.810C>T (p.Ile270=)
n.793C>T
c.918C>T (p.Ile306=)
c.550C>T
c.888C>T (p.Ile296=)
c.819C>T (p.Ile273=)
n.507C>T
c.683C>T
c.660C>T (p.Ile220=)
c.648C>T (p.Ile216=)
c.793C>T (n.793C>T)
c.588C>T (p.Ile196=)
c.711C>T (p.Ile237=)
c.663C>T (p.Ile221=)
c.687C>T (p.Ile229=)
c.300C>T (p.Ile100=)
 COSMIC
7g.128398570G>CCA369169502IMPDH1c.810C>G (p.Ile270Met)
n.793C>G
c.918C>G (p.Ile306Met)
c.550C>G
c.888C>G (p.Ile296Met)
c.819C>G (p.Ile273Met)
n.507C>G
c.683C>G
c.660C>G (p.Ile220Met)
c.648C>G (p.Ile216Met)
c.793C>G (n.793C>G)
c.588C>G (p.Ile196Met)
c.711C>G (p.Ile237Met)
c.663C>G (p.Ile221Met)
c.687C>G (p.Ile229Met)
c.300C>G (p.Ile100Met)
7g.128398570G>TCA457528377IMPDH1c.810C>A (p.Ile270=)
n.793C>A
c.918C>A (p.Ile306=)
c.550C>A
c.888C>A (p.Ile296=)
c.819C>A (p.Ile273=)
n.507C>A
c.683C>A
c.660C>A (p.Ile220=)
c.648C>A (p.Ile216=)
c.793C>A (n.793C>A)
c.588C>A (p.Ile196=)
c.711C>A (p.Ile237=)
c.663C>A (p.Ile221=)
c.687C>A (p.Ile229=)
c.300C>A (p.Ile100=)
7g.128398571A>CCA369169517IMPDH1c.809T>G (p.Ile270Ser)
n.792T>G
c.917T>G (p.Ile306Ser)
c.549T>G
c.887T>G (p.Ile296Ser)
c.818T>G (p.Ile273Ser)
n.506T>G
c.682T>G
c.659T>G (p.Ile220Ser)
c.647T>G (p.Ile216Ser)
c.792T>G (n.792T>G)
c.587T>G (p.Ile196Ser)
c.710T>G (p.Ile237Ser)
c.662T>G (p.Ile221Ser)
c.686T>G (p.Ile229Ser)
c.299T>G (p.Ile100Ser)
7g.128398571A>GCA369169514IMPDH1c.809T>C (p.Ile270Thr)
n.792T>C
c.917T>C (p.Ile306Thr)
c.549T>C
c.887T>C (p.Ile296Thr)
c.818T>C (p.Ile273Thr)
n.506T>C
c.682T>C
c.659T>C (p.Ile220Thr)
c.647T>C (p.Ile216Thr)
c.792T>C (n.792T>C)
c.587T>C (p.Ile196Thr)
c.710T>C (p.Ile237Thr)
c.662T>C (p.Ile221Thr)
c.686T>C (p.Ile229Thr)
c.299T>C (p.Ile100Thr)
 gnomAD v4
7g.128398571A>TCA369169509IMPDH1c.809T>A (p.Ile270Asn)
n.792T>A
c.917T>A (p.Ile306Asn)
c.549T>A
c.887T>A (p.Ile296Asn)
c.818T>A (p.Ile273Asn)
n.506T>A
c.682T>A
c.659T>A (p.Ile220Asn)
c.647T>A (p.Ile216Asn)
c.792T>A (n.792T>A)
c.587T>A (p.Ile196Asn)
c.710T>A (p.Ile237Asn)
c.662T>A (p.Ile221Asn)
c.686T>A (p.Ile229Asn)
c.299T>A (p.Ile100Asn)
7g.128398572T>ACA369169520IMPDH1c.808A>T (p.Ile270Phe)
n.791A>T
c.916A>T (p.Ile306Phe)
c.548A>T
c.886A>T (p.Ile296Phe)
c.817A>T (p.Ile273Phe)
n.505A>T
c.681A>T
c.658A>T (p.Ile220Phe)
c.646A>T (p.Ile216Phe)
c.791A>T (n.791A>T)
c.586A>T (p.Ile196Phe)
c.709A>T (p.Ile237Phe)
c.661A>T (p.Ile221Phe)
c.685A>T (p.Ile229Phe)
c.298A>T (p.Ile100Phe)
7g.128398572T>CCA369169528IMPDH1c.808A>G (p.Ile270Val)
n.791A>G
c.916A>G (p.Ile306Val)
c.548A>G
c.886A>G (p.Ile296Val)
c.817A>G (p.Ile273Val)
n.505A>G
c.681A>G
c.658A>G (p.Ile220Val)
c.646A>G (p.Ile216Val)
c.791A>G (n.791A>G)
c.586A>G (p.Ile196Val)
c.709A>G (p.Ile237Val)
c.661A>G (p.Ile221Val)
c.685A>G (p.Ile229Val)
c.298A>G (p.Ile100Val)
7g.128398572T>GCA369169532IMPDH1c.808A>C (p.Ile270Leu)
n.791A>C
c.916A>C (p.Ile306Leu)
c.548A>C
c.886A>C (p.Ile296Leu)
c.817A>C (p.Ile273Leu)
n.505A>C
c.681A>C
c.658A>C (p.Ile220Leu)
c.646A>C (p.Ile216Leu)
c.791A>C (n.791A>C)
c.586A>C (p.Ile196Leu)
c.709A>C (p.Ile237Leu)
c.661A>C (p.Ile221Leu)
c.685A>C (p.Ile229Leu)
c.298A>C (p.Ile100Leu)
7g.128398573G>ACA457528382IMPDH1c.807C>T (p.Ala269=)
n.790C>T
c.915C>T (p.Ala305=)
c.547C>T
c.885C>T (p.Ala295=)
c.816C>T (p.Ala272=)
n.504C>T
c.680C>T
c.657C>T (p.Ala219=)
c.645C>T (p.Ala215=)
c.790C>T (n.790C>T)
c.585C>T (p.Ala195=)
c.708C>T (p.Ala236=)
c.660C>T (p.Ala220=)
c.684C>T (p.Ala228=)
c.297C>T (p.Ala99=)
7g.128398573G>CCA457528383IMPDH1c.807C>G (p.Ala269=)
n.790C>G
c.915C>G (p.Ala305=)
c.547C>G
c.885C>G (p.Ala295=)
c.816C>G (p.Ala272=)
n.504C>G
c.680C>G
c.657C>G (p.Ala219=)
c.645C>G (p.Ala215=)
c.790C>G (n.790C>G)
c.585C>G (p.Ala195=)
c.708C>G (p.Ala236=)
c.660C>G (p.Ala220=)
c.684C>G (p.Ala228=)
c.297C>G (p.Ala99=)
7g.128398573G>TCA457528384IMPDH1c.807C>A (p.Ala269=)
n.790C>A
c.915C>A (p.Ala305=)
c.547C>A
c.885C>A (p.Ala295=)
c.816C>A (p.Ala272=)
n.504C>A
c.680C>A
c.657C>A (p.Ala219=)
c.645C>A (p.Ala215=)
c.790C>A (n.790C>A)
c.585C>A (p.Ala195=)
c.708C>A (p.Ala236=)
c.660C>A (p.Ala220=)
c.684C>A (p.Ala228=)
c.297C>A (p.Ala99=)
7g.128398574G>ACA4470987IMPDH1c.806C>T (p.Ala269Val)
n.789C>T
c.914C>T (p.Ala305Val)
c.546C>T
c.884C>T (p.Ala295Val)
c.815C>T (p.Ala272Val)
n.503C>T
c.679C>T
c.656C>T (p.Ala219Val)
c.644C>T (p.Ala215Val)
c.789C>T (n.789C>T)
c.584C>T (p.Ala195Val)
c.707C>T (p.Ala236Val)
c.659C>T (p.Ala220Val)
c.683C>T (p.Ala228Val)
c.296C>T (p.Ala99Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398574G>CCA369169543IMPDH1c.806C>G (p.Ala269Gly)
n.789C>G
c.914C>G (p.Ala305Gly)
c.546C>G
c.884C>G (p.Ala295Gly)
c.815C>G (p.Ala272Gly)
n.503C>G
c.679C>G
c.656C>G (p.Ala219Gly)
c.644C>G (p.Ala215Gly)
c.789C>G (n.789C>G)
c.584C>G (p.Ala195Gly)
c.707C>G (p.Ala236Gly)
c.659C>G (p.Ala220Gly)
c.683C>G (p.Ala228Gly)
c.296C>G (p.Ala99Gly)
7g.128398574G=CA1742328444IMPDH1c.806C= (p.Ala269=)
n.789C=
c.914C= (p.Ala305=)
c.546C=
c.884C= (p.Ala295=)
c.815C= (p.Ala272=)
n.503C=
c.679C=
c.656C= (p.Ala219=)
c.644C= (p.Ala215=)
c.789C= (n.789C=)
c.584C= (p.Ala195=)
c.707C= (p.Ala236=)
c.659C= (p.Ala220=)
c.683C= (p.Ala228=)
c.296C= (p.Ala99=)
7g.128398574G>TCA369169558IMPDH1c.806C>A (p.Ala269Asp)
n.789C>A
c.914C>A (p.Ala305Asp)
c.546C>A
c.884C>A (p.Ala295Asp)
c.815C>A (p.Ala272Asp)
n.503C>A
c.679C>A
c.656C>A (p.Ala219Asp)
c.644C>A (p.Ala215Asp)
c.789C>A (n.789C>A)
c.584C>A (p.Ala195Asp)
c.707C>A (p.Ala236Asp)
c.659C>A (p.Ala220Asp)
c.683C>A (p.Ala228Asp)
c.296C>A (p.Ala99Asp)
7g.128398575C>ACA369169568IMPDH1c.805G>T (p.Ala269Ser)
n.788G>T
c.913G>T (p.Ala305Ser)
c.545G>T
c.883G>T (p.Ala295Ser)
c.814G>T (p.Ala272Ser)
n.502G>T
c.678G>T
c.655G>T (p.Ala219Ser)
c.643G>T (p.Ala215Ser)
c.788G>T (n.788G>T)
c.583G>T (p.Ala195Ser)
c.706G>T (p.Ala236Ser)
c.658G>T (p.Ala220Ser)
c.682G>T (p.Ala228Ser)
c.295G>T (p.Ala99Ser)
7g.128398575C>GCA369169571IMPDH1c.805G>C (p.Ala269Pro)
n.788G>C
c.913G>C (p.Ala305Pro)
c.545G>C
c.883G>C (p.Ala295Pro)
c.814G>C (p.Ala272Pro)
n.502G>C
c.678G>C
c.655G>C (p.Ala219Pro)
c.643G>C (p.Ala215Pro)
c.788G>C (n.788G>C)
c.583G>C (p.Ala195Pro)
c.706G>C (p.Ala236Pro)
c.658G>C (p.Ala220Pro)
c.682G>C (p.Ala228Pro)
c.295G>C (p.Ala99Pro)
7g.128398575C>TCA369169573IMPDH1c.805G>A (p.Ala269Thr)
n.788G>A
c.913G>A (p.Ala305Thr)
c.545G>A
c.883G>A (p.Ala295Thr)
c.814G>A (p.Ala272Thr)
n.502G>A
c.678G>A
c.655G>A (p.Ala219Thr)
c.643G>A (p.Ala215Thr)
c.788G>A (n.788G>A)
c.583G>A (p.Ala195Thr)
c.706G>A (p.Ala236Thr)
c.658G>A (p.Ala220Thr)
c.682G>A (p.Ala228Thr)
c.295G>A (p.Ala99Thr)
7g.128398576C>ACA457528388IMPDH1c.804G>T (p.Val268=)
n.787G>T
c.912G>T (p.Val304=)
c.544G>T
c.882G>T (p.Val294=)
c.813G>T (p.Val271=)
n.501G>T
c.677G>T
c.654G>T (p.Val218=)
c.642G>T (p.Val214=)
c.787G>T (n.787G>T)
c.582G>T (p.Val194=)
c.705G>T (p.Val235=)
c.657G>T (p.Val219=)
c.681G>T (p.Val227=)
c.294G>T (p.Val98=)
7g.128398576C>GCA457528390IMPDH1c.804G>C (p.Val268=)
n.787G>C
c.912G>C (p.Val304=)
c.544G>C
c.882G>C (p.Val294=)
c.813G>C (p.Val271=)
n.501G>C
c.677G>C
c.654G>C (p.Val218=)
c.642G>C (p.Val214=)
c.787G>C (n.787G>C)
c.582G>C (p.Val194=)
c.705G>C (p.Val235=)
c.657G>C (p.Val219=)
c.681G>C (p.Val227=)
c.294G>C (p.Val98=)
7g.128398576C>TCA457528389IMPDH1c.804G>A (p.Val268=)
n.787G>A
c.912G>A (p.Val304=)
c.544G>A
c.882G>A (p.Val294=)
c.813G>A (p.Val271=)
n.501G>A
c.677G>A
c.654G>A (p.Val218=)
c.642G>A (p.Val214=)
c.787G>A (n.787G>A)
c.582G>A (p.Val194=)
c.705G>A (p.Val235=)
c.657G>A (p.Val219=)
c.681G>A (p.Val227=)
c.294G>A (p.Val98=)
7g.128398577A>CCA369169583IMPDH1c.803T>G (p.Val268Gly)
n.786T>G
c.911T>G (p.Val304Gly)
c.543T>G
c.881T>G (p.Val294Gly)
c.812T>G (p.Val271Gly)
n.500T>G
c.676T>G
c.653T>G (p.Val218Gly)
c.641T>G (p.Val214Gly)
c.786T>G (n.786T>G)
c.581T>G (p.Val194Gly)
c.704T>G (p.Val235Gly)
c.656T>G (p.Val219Gly)
c.680T>G (p.Val227Gly)
c.293T>G (p.Val98Gly)
7g.128398577A>GCA369169589IMPDH1c.803T>C (p.Val268Ala)
n.786T>C
c.911T>C (p.Val304Ala)
c.543T>C
c.881T>C (p.Val294Ala)
c.812T>C (p.Val271Ala)
n.500T>C
c.676T>C
c.653T>C (p.Val218Ala)
c.641T>C (p.Val214Ala)
c.786T>C (n.786T>C)
c.581T>C (p.Val194Ala)
c.704T>C (p.Val235Ala)
c.656T>C (p.Val219Ala)
c.680T>C (p.Val227Ala)
c.293T>C (p.Val98Ala)
7g.128398577A>TCA369169594IMPDH1c.803T>A (p.Val268Glu)
n.786T>A
c.911T>A (p.Val304Glu)
c.543T>A
c.881T>A (p.Val294Glu)
c.812T>A (p.Val271Glu)
n.500T>A
c.676T>A
c.653T>A (p.Val218Glu)
c.641T>A (p.Val214Glu)
c.786T>A (n.786T>A)
c.581T>A (p.Val194Glu)
c.704T>A (p.Val235Glu)
c.656T>A (p.Val219Glu)
c.680T>A (p.Val227Glu)
c.293T>A (p.Val98Glu)
7g.128398578C>ACA369169599IMPDH1c.802G>T (p.Val268Leu)
n.785G>T
c.910G>T (p.Val304Leu)
c.542G>T
c.880G>T (p.Val294Leu)
c.811G>T (p.Val271Leu)
n.499G>T
c.675G>T
c.652G>T (p.Val218Leu)
c.640G>T (p.Val214Leu)
c.785G>T (n.785G>T)
c.580G>T (p.Val194Leu)
c.703G>T (p.Val235Leu)
c.655G>T (p.Val219Leu)
c.679G>T (p.Val227Leu)
c.292G>T (p.Val98Leu)
7g.128398578C>GCA369169607IMPDH1c.802G>C (p.Val268Leu)
n.785G>C
c.910G>C (p.Val304Leu)
c.542G>C
c.880G>C (p.Val294Leu)
c.811G>C (p.Val271Leu)
n.499G>C
c.675G>C
c.652G>C (p.Val218Leu)
c.640G>C (p.Val214Leu)
c.785G>C (n.785G>C)
c.580G>C (p.Val194Leu)
c.703G>C (p.Val235Leu)
c.655G>C (p.Val219Leu)
c.679G>C (p.Val227Leu)
c.292G>C (p.Val98Leu)
7g.128398578C>TCA369169604IMPDH1c.802G>A (p.Val268Met)
n.785G>A
c.910G>A (p.Val304Met)
c.542G>A
c.880G>A (p.Val294Met)
c.811G>A (p.Val271Met)
n.499G>A
c.675G>A
c.652G>A (p.Val218Met)
c.640G>A (p.Val214Met)
c.785G>A (n.785G>A)
c.580G>A (p.Val194Met)
c.703G>A (p.Val235Met)
c.655G>A (p.Val219Met)
c.679G>A (p.Val227Met)
c.292G>A (p.Val98Met)
7g.128398579C>ACA4470988IMPDH1c.801G>T (p.Leu267=)
n.784G>T
c.909G>T (p.Leu303=)
c.541G>T
c.879G>T (p.Leu293=)
c.810G>T (p.Leu270=)
n.498G>T
c.674G>T
c.651G>T (p.Leu217=)
c.639G>T (p.Leu213=)
c.784G>T (n.784G>T)
c.579G>T (p.Leu193=)
c.702G>T (p.Leu234=)
c.654G>T (p.Leu218=)
c.678G>T (p.Leu226=)
c.291G>T (p.Leu97=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398579C=CA1742328447IMPDH1c.801G= (p.Leu267=)
n.784G=
c.909G= (p.Leu303=)
c.541G=
c.879G= (p.Leu293=)
c.810G= (p.Leu270=)
n.498G=
c.674G=
c.651G= (p.Leu217=)
c.639G= (p.Leu213=)
c.784G= (n.784G=)
c.579G= (p.Leu193=)
c.702G= (p.Leu234=)
c.654G= (p.Leu218=)
c.678G= (p.Leu226=)
c.291G= (p.Leu97=)
7g.128398579C>GCA457528392IMPDH1c.801G>C (p.Leu267=)
n.784G>C
c.909G>C (p.Leu303=)
c.541G>C
c.879G>C (p.Leu293=)
c.810G>C (p.Leu270=)
n.498G>C
c.674G>C
c.651G>C (p.Leu217=)
c.639G>C (p.Leu213=)
c.784G>C (n.784G>C)
c.579G>C (p.Leu193=)
c.702G>C (p.Leu234=)
c.654G>C (p.Leu218=)
c.678G>C (p.Leu226=)
c.291G>C (p.Leu97=)
7g.128398579C>TCA457528393IMPDH1c.801G>A (p.Leu267=)
n.784G>A
c.909G>A (p.Leu303=)
c.541G>A
c.879G>A (p.Leu293=)
c.810G>A (p.Leu270=)
n.498G>A
c.674G>A
c.651G>A (p.Leu217=)
c.639G>A (p.Leu213=)
c.784G>A (n.784G>A)
c.579G>A (p.Leu193=)
c.702G>A (p.Leu234=)
c.654G>A (p.Leu218=)
c.678G>A (p.Leu226=)
c.291G>A (p.Leu97=)
7g.128398580A>CCA369169613IMPDH1c.800T>G (p.Leu267Arg)
n.783T>G
c.908T>G (p.Leu303Arg)
c.540T>G
c.878T>G (p.Leu293Arg)
c.809T>G (p.Leu270Arg)
n.497T>G
c.673T>G
c.650T>G (p.Leu217Arg)
c.638T>G (p.Leu213Arg)
c.783T>G (n.783T>G)
c.578T>G (p.Leu193Arg)
c.701T>G (p.Leu234Arg)
c.653T>G (p.Leu218Arg)
c.677T>G (p.Leu226Arg)
c.290T>G (p.Leu97Arg)
7g.128398580A>GCA369169611IMPDH1c.800T>C (p.Leu267Pro)
n.783T>C
c.908T>C (p.Leu303Pro)
c.540T>C
c.878T>C (p.Leu293Pro)
c.809T>C (p.Leu270Pro)
n.497T>C
c.673T>C
c.650T>C (p.Leu217Pro)
c.638T>C (p.Leu213Pro)
c.783T>C (n.783T>C)
c.578T>C (p.Leu193Pro)
c.701T>C (p.Leu234Pro)
c.653T>C (p.Leu218Pro)
c.677T>C (p.Leu226Pro)
c.290T>C (p.Leu97Pro)
 gnomAD v4
7g.128398580A>TCA369169612IMPDH1c.800T>A (p.Leu267Gln)
n.783T>A
c.908T>A (p.Leu303Gln)
c.540T>A
c.878T>A (p.Leu293Gln)
c.809T>A (p.Leu270Gln)
n.497T>A
c.673T>A
c.650T>A (p.Leu217Gln)
c.638T>A (p.Leu213Gln)
c.783T>A (n.783T>A)
c.578T>A (p.Leu193Gln)
c.701T>A (p.Leu234Gln)
c.653T>A (p.Leu218Gln)
c.677T>A (p.Leu226Gln)
c.290T>A (p.Leu97Gln)
7g.128398581G>ACA457528394IMPDH1c.799C>T (p.Leu267=)
n.782C>T
c.907C>T (p.Leu303=)
c.539C>T
c.877C>T (p.Leu293=)
c.808C>T (p.Leu270=)
n.496C>T
c.672C>T
c.649C>T (p.Leu217=)
c.637C>T (p.Leu213=)
c.782C>T (n.782C>T)
c.577C>T (p.Leu193=)
c.700C>T (p.Leu234=)
c.652C>T (p.Leu218=)
c.676C>T (p.Leu226=)
c.289C>T (p.Leu97=)
 gnomAD v4
7g.128398581G>CCA369169614IMPDH1c.799C>G (p.Leu267Val)
n.782C>G
c.907C>G (p.Leu303Val)
c.539C>G
c.877C>G (p.Leu293Val)
c.808C>G (p.Leu270Val)
n.496C>G
c.672C>G
c.649C>G (p.Leu217Val)
c.637C>G (p.Leu213Val)
c.782C>G (n.782C>G)
c.577C>G (p.Leu193Val)
c.700C>G (p.Leu234Val)
c.652C>G (p.Leu218Val)
c.676C>G (p.Leu226Val)
c.289C>G (p.Leu97Val)
 COSMIC COSMIC
7g.128398581G>TCA369169616IMPDH1c.799C>A (p.Leu267Met)
n.782C>A
c.907C>A (p.Leu303Met)
c.539C>A
c.877C>A (p.Leu293Met)
c.808C>A (p.Leu270Met)
n.496C>A
c.672C>A
c.649C>A (p.Leu217Met)
c.637C>A (p.Leu213Met)
c.782C>A (n.782C>A)
c.577C>A (p.Leu193Met)
c.700C>A (p.Leu234Met)
c.652C>A (p.Leu218Met)
c.676C>A (p.Leu226Met)
c.289C>A (p.Leu97Met)
7g.128398582C>ACA369169619IMPDH1c.798G>T (p.Glu266Asp)
n.781G>T
c.906G>T (p.Glu302Asp)
c.538G>T
c.876G>T (p.Glu292Asp)
c.807G>T (p.Glu269Asp)
n.495G>T
c.671G>T
c.648G>T (p.Glu216Asp)
c.636G>T (p.Glu212Asp)
c.781G>T (n.781G>T)
c.576G>T (p.Glu192Asp)
c.699G>T (p.Glu233Asp)
c.651G>T (p.Glu217Asp)
c.675G>T (p.Glu225Asp)
c.288G>T (p.Glu96Asp)
 gnomAD v4
7g.128398582C>GCA369169620IMPDH1c.798G>C (p.Glu266Asp)
n.781G>C
c.906G>C (p.Glu302Asp)
c.538G>C
c.876G>C (p.Glu292Asp)
c.807G>C (p.Glu269Asp)
n.495G>C
c.671G>C
c.648G>C (p.Glu216Asp)
c.636G>C (p.Glu212Asp)
c.781G>C (n.781G>C)
c.576G>C (p.Glu192Asp)
c.699G>C (p.Glu233Asp)
c.651G>C (p.Glu217Asp)
c.675G>C (p.Glu225Asp)
c.288G>C (p.Glu96Asp)
7g.128398582C>TCA457528395IMPDH1c.798G>A (p.Glu266=)
n.781G>A
c.906G>A (p.Glu302=)
c.538G>A
c.876G>A (p.Glu292=)
c.807G>A (p.Glu269=)
n.495G>A
c.671G>A
c.648G>A (p.Glu216=)
c.636G>A (p.Glu212=)
c.781G>A (n.781G>A)
c.576G>A (p.Glu192=)
c.699G>A (p.Glu233=)
c.651G>A (p.Glu217=)
c.675G>A (p.Glu225=)
c.288G>A (p.Glu96=)
7g.128398583T>ACA369169642IMPDH1c.797A>T (p.Glu266Val)
n.780A>T
c.905A>T (p.Glu302Val)
c.537A>T
c.875A>T (p.Glu292Val)
c.806A>T (p.Glu269Val)
n.494A>T
c.670A>T
c.647A>T (p.Glu216Val)
c.635A>T (p.Glu212Val)
c.780A>T (n.780A>T)
c.575A>T (p.Glu192Val)
c.698A>T (p.Glu233Val)
c.650A>T (p.Glu217Val)
c.674A>T (p.Glu225Val)
c.287A>T (p.Glu96Val)
7g.128398583T>CCA369169632IMPDH1c.797A>G (p.Glu266Gly)
n.780A>G
c.905A>G (p.Glu302Gly)
c.537A>G
c.875A>G (p.Glu292Gly)
c.806A>G (p.Glu269Gly)
n.494A>G
c.670A>G
c.647A>G (p.Glu216Gly)
c.635A>G (p.Glu212Gly)
c.780A>G (n.780A>G)
c.575A>G (p.Glu192Gly)
c.698A>G (p.Glu233Gly)
c.650A>G (p.Glu217Gly)
c.674A>G (p.Glu225Gly)
c.287A>G (p.Glu96Gly)
7g.128398583T>GCA369169640IMPDH1c.797A>C (p.Glu266Ala)
n.780A>C
c.905A>C (p.Glu302Ala)
c.537A>C
c.875A>C (p.Glu292Ala)
c.806A>C (p.Glu269Ala)
n.494A>C
c.670A>C
c.647A>C (p.Glu216Ala)
c.635A>C (p.Glu212Ala)
c.780A>C (n.780A>C)
c.575A>C (p.Glu192Ala)
c.698A>C (p.Glu233Ala)
c.650A>C (p.Glu217Ala)
c.674A>C (p.Glu225Ala)
c.287A>C (p.Glu96Ala)
7g.128398584C>ACA369169647IMPDH1c.796G>T (p.Glu266Ter)
n.779G>T
c.904G>T (p.Glu302Ter)
c.536G>T
c.874G>T (p.Glu292Ter)
c.805G>T (p.Glu269Ter)
n.493G>T
c.669G>T
c.646G>T (p.Glu216Ter)
c.634G>T (p.Glu212Ter)
c.779G>T (n.779G>T)
c.574G>T (p.Glu192Ter)
c.697G>T (p.Glu233Ter)
c.649G>T (p.Glu217Ter)
c.673G>T (p.Glu225Ter)
c.286G>T (p.Glu96Ter)
7g.128398584C>GCA369169654IMPDH1c.796G>C (p.Glu266Gln)
n.779G>C
c.904G>C (p.Glu302Gln)
c.536G>C
c.874G>C (p.Glu292Gln)
c.805G>C (p.Glu269Gln)
n.493G>C
c.669G>C
c.646G>C (p.Glu216Gln)
c.634G>C (p.Glu212Gln)
c.779G>C (n.779G>C)
c.574G>C (p.Glu192Gln)
c.697G>C (p.Glu233Gln)
c.649G>C (p.Glu217Gln)
c.673G>C (p.Glu225Gln)
c.286G>C (p.Glu96Gln)
7g.128398584C>TCA369169656IMPDH1c.796G>A (p.Glu266Lys)
n.779G>A
c.904G>A (p.Glu302Lys)
c.536G>A
c.874G>A (p.Glu292Lys)
c.805G>A (p.Glu269Lys)
n.493G>A
c.669G>A
c.646G>A (p.Glu216Lys)
c.634G>A (p.Glu212Lys)
c.779G>A (n.779G>A)
c.574G>A (p.Glu192Lys)
c.697G>A (p.Glu233Lys)
c.649G>A (p.Glu217Lys)
c.673G>A (p.Glu225Lys)
c.286G>A (p.Glu96Lys)
7g.128398585A=CA1742328455IMPDH1c.795T= (p.Asp265=)
n.778T=
c.903T= (p.Asp301=)
c.535T=
c.873T= (p.Asp291=)
c.804T= (p.Asp268=)
n.492T=
c.668T=
c.645T= (p.Asp215=)
c.633T= (p.Asp211=)
c.778T= (n.778T=)
c.573T= (p.Asp191=)
c.696T= (p.Asp232=)
c.648T= (p.Asp216=)
c.672T= (p.Asp224=)
c.285T= (p.Asp95=)
7g.128398585A>CCA369169661IMPDH1c.795T>G (p.Asp265Glu)
n.778T>G
c.903T>G (p.Asp301Glu)
c.535T>G
c.873T>G (p.Asp291Glu)
c.804T>G (p.Asp268Glu)
n.492T>G
c.668T>G
c.645T>G (p.Asp215Glu)
c.633T>G (p.Asp211Glu)
c.778T>G (n.778T>G)
c.573T>G (p.Asp191Glu)
c.696T>G (p.Asp232Glu)
c.648T>G (p.Asp216Glu)
c.672T>G (p.Asp224Glu)
c.285T>G (p.Asp95Glu)
 gnomAD v4
7g.128398585A>GCA457528396IMPDH1c.795T>C (p.Asp265=)
n.778T>C
c.903T>C (p.Asp301=)
c.535T>C
c.873T>C (p.Asp291=)
c.804T>C (p.Asp268=)
n.492T>C
c.668T>C
c.645T>C (p.Asp215=)
c.633T>C (p.Asp211=)
c.778T>C (n.778T>C)
c.573T>C (p.Asp191=)
c.696T>C (p.Asp232=)
c.648T>C (p.Asp216=)
c.672T>C (p.Asp224=)
c.285T>C (p.Asp95=)
 dbSNP gnomAD v2 gnomAD v4
7g.128398585A>TCA369169669IMPDH1c.795T>A (p.Asp265Glu)
n.778T>A
c.903T>A (p.Asp301Glu)
c.535T>A
c.873T>A (p.Asp291Glu)
c.804T>A (p.Asp268Glu)
n.492T>A
c.668T>A
c.645T>A (p.Asp215Glu)
c.633T>A (p.Asp211Glu)
c.778T>A (n.778T>A)
c.573T>A (p.Asp191Glu)
c.696T>A (p.Asp232Glu)
c.648T>A (p.Asp216Glu)
c.672T>A (p.Asp224Glu)
c.285T>A (p.Asp95Glu)
7g.128398586T>ACA369169679IMPDH1c.794A>T (p.Asp265Val)
n.777A>T
c.902A>T (p.Asp301Val)
c.534A>T
c.872A>T (p.Asp291Val)
c.803A>T (p.Asp268Val)
n.491A>T
c.667A>T
c.644A>T (p.Asp215Val)
c.632A>T (p.Asp211Val)
c.777A>T (n.777A>T)
c.572A>T (p.Asp191Val)
c.695A>T (p.Asp232Val)
c.647A>T (p.Asp216Val)
c.671A>T (p.Asp224Val)
c.284A>T (p.Asp95Val)
7g.128398586T>CCA369169685IMPDH1c.794A>G (p.Asp265Gly)
n.777A>G
c.902A>G (p.Asp301Gly)
c.534A>G
c.872A>G (p.Asp291Gly)
c.803A>G (p.Asp268Gly)
n.491A>G
c.667A>G
c.644A>G (p.Asp215Gly)
c.632A>G (p.Asp211Gly)
c.777A>G (n.777A>G)
c.572A>G (p.Asp191Gly)
c.695A>G (p.Asp232Gly)
c.647A>G (p.Asp216Gly)
c.671A>G (p.Asp224Gly)
c.284A>G (p.Asp95Gly)
 ClinVar dbSNP
7g.128398586T>GCA369169680IMPDH1c.794A>C (p.Asp265Ala)
n.777A>C
c.902A>C (p.Asp301Ala)
c.534A>C
c.872A>C (p.Asp291Ala)
c.803A>C (p.Asp268Ala)
n.491A>C
c.667A>C
c.644A>C (p.Asp215Ala)
c.632A>C (p.Asp211Ala)
c.777A>C (n.777A>C)
c.572A>C (p.Asp191Ala)
c.695A>C (p.Asp232Ala)
c.647A>C (p.Asp216Ala)
c.671A>C (p.Asp224Ala)
c.284A>C (p.Asp95Ala)
7g.128398587C>ACA369169694IMPDH1c.793G>T (p.Asp265Tyr)
n.776G>T
c.901G>T (p.Asp301Tyr)
c.533G>T
c.871G>T (p.Asp291Tyr)
c.802G>T (p.Asp268Tyr)
n.490G>T
c.666G>T
c.643G>T (p.Asp215Tyr)
c.631G>T (p.Asp211Tyr)
c.776G>T (n.776G>T)
c.571G>T (p.Asp191Tyr)
c.694G>T (p.Asp232Tyr)
c.646G>T (p.Asp216Tyr)
c.670G>T (p.Asp224Tyr)
c.283G>T (p.Asp95Tyr)
7g.128398587C=CA1742328469IMPDH1c.793G= (p.Asp265=)
n.776G=
c.901G= (p.Asp301=)
c.533G=
c.871G= (p.Asp291=)
c.802G= (p.Asp268=)
n.490G=
c.666G=
c.643G= (p.Asp215=)
c.631G= (p.Asp211=)
c.776G= (n.776G=)
c.571G= (p.Asp191=)
c.694G= (p.Asp232=)
c.646G= (p.Asp216=)
c.670G= (p.Asp224=)
c.283G= (p.Asp95=)
7g.128398587C>GCA369169697IMPDH1c.793G>C (p.Asp265His)
n.776G>C
c.901G>C (p.Asp301His)
c.533G>C
c.871G>C (p.Asp291His)
c.802G>C (p.Asp268His)
n.490G>C
c.666G>C
c.643G>C (p.Asp215His)
c.631G>C (p.Asp211His)
c.776G>C (n.776G>C)
c.571G>C (p.Asp191His)
c.694G>C (p.Asp232His)
c.646G>C (p.Asp216His)
c.670G>C (p.Asp224His)
c.283G>C (p.Asp95His)
7g.128398587C>TCA4470989IMPDH1c.793G>A (p.Asp265Asn)
n.776G>A
c.901G>A (p.Asp301Asn)
c.533G>A
c.871G>A (p.Asp291Asn)
c.802G>A (p.Asp268Asn)
n.490G>A
c.666G>A
c.643G>A (p.Asp215Asn)
c.631G>A (p.Asp211Asn)
c.776G>A (n.776G>A)
c.571G>A (p.Asp191Asn)
c.694G>A (p.Asp232Asn)
c.646G>A (p.Asp216Asn)
c.670G>A (p.Asp224Asn)
c.283G>A (p.Asp95Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398588G>ACA4470990IMPDH1c.792C>T (p.Cys264=)
n.775C>T
c.900C>T (p.Cys300=)
c.532C>T
c.870C>T (p.Cys290=)
c.801C>T (p.Cys267=)
n.489C>T
c.665C>T
c.642C>T (p.Cys214=)
c.630C>T (p.Cys210=)
c.775C>T (n.775C>T)
c.570C>T (p.Cys190=)
c.693C>T (p.Cys231=)
c.645C>T (p.Cys215=)
c.669C>T (p.Cys223=)
c.282C>T (p.Cys94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398588G>CCA369169719IMPDH1c.792C>G (p.Cys264Trp)
n.775C>G
c.900C>G (p.Cys300Trp)
c.532C>G
c.870C>G (p.Cys290Trp)
c.801C>G (p.Cys267Trp)
n.489C>G
c.665C>G
c.642C>G (p.Cys214Trp)
c.630C>G (p.Cys210Trp)
c.775C>G (n.775C>G)
c.570C>G (p.Cys190Trp)
c.693C>G (p.Cys231Trp)
c.645C>G (p.Cys215Trp)
c.669C>G (p.Cys223Trp)
c.282C>G (p.Cys94Trp)
7g.128398588G=CA1742328477IMPDH1c.792C= (p.Cys264=)
n.775C=
c.900C= (p.Cys300=)
c.532C=
c.870C= (p.Cys290=)
c.801C= (p.Cys267=)
n.489C=
c.665C=
c.642C= (p.Cys214=)
c.630C= (p.Cys210=)
c.775C= (n.775C=)
c.570C= (p.Cys190=)
c.693C= (p.Cys231=)
c.645C= (p.Cys215=)
c.669C= (p.Cys223=)
c.282C= (p.Cys94=)
7g.128398588G>TCA369169720IMPDH1c.792C>A (p.Cys264Ter)
n.775C>A
c.900C>A (p.Cys300Ter)
c.532C>A
c.870C>A (p.Cys290Ter)
c.801C>A (p.Cys267Ter)
n.489C>A
c.665C>A
c.642C>A (p.Cys214Ter)
c.630C>A (p.Cys210Ter)
c.775C>A (n.775C>A)
c.570C>A (p.Cys190Ter)
c.693C>A (p.Cys231Ter)
c.645C>A (p.Cys215Ter)
c.669C>A (p.Cys223Ter)
c.282C>A (p.Cys94Ter)
7g.128398589C>ACA369169721IMPDH1c.791G>T (p.Cys264Phe)
n.774G>T
c.899G>T (p.Cys300Phe)
c.531G>T
c.869G>T (p.Cys290Phe)
c.800G>T (p.Cys267Phe)
n.488G>T
c.664G>T
c.641G>T (p.Cys214Phe)
c.629G>T (p.Cys210Phe)
c.774G>T (n.774G>T)
c.569G>T (p.Cys190Phe)
c.692G>T (p.Cys231Phe)
c.644G>T (p.Cys215Phe)
c.668G>T (p.Cys223Phe)
c.281G>T (p.Cys94Phe)
7g.128398589C>GCA369169724IMPDH1c.791G>C (p.Cys264Ser)
n.774G>C
c.899G>C (p.Cys300Ser)
c.531G>C
c.869G>C (p.Cys290Ser)
c.800G>C (p.Cys267Ser)
n.488G>C
c.664G>C
c.641G>C (p.Cys214Ser)
c.629G>C (p.Cys210Ser)
c.774G>C (n.774G>C)
c.569G>C (p.Cys190Ser)
c.692G>C (p.Cys231Ser)
c.644G>C (p.Cys215Ser)
c.668G>C (p.Cys223Ser)
c.281G>C (p.Cys94Ser)
7g.128398589C>TCA369169737IMPDH1c.791G>A (p.Cys264Tyr)
n.774G>A
c.899G>A (p.Cys300Tyr)
c.531G>A
c.869G>A (p.Cys290Tyr)
c.800G>A (p.Cys267Tyr)
n.488G>A
c.664G>A
c.641G>A (p.Cys214Tyr)
c.629G>A (p.Cys210Tyr)
c.774G>A (n.774G>A)
c.569G>A (p.Cys190Tyr)
c.692G>A (p.Cys231Tyr)
c.644G>A (p.Cys215Tyr)
c.668G>A (p.Cys223Tyr)
c.281G>A (p.Cys94Tyr)
 COSMIC
7g.128398590A>CCA369169744IMPDH1c.790T>G (p.Cys264Gly)
n.773T>G
c.898T>G (p.Cys300Gly)
c.530T>G
c.868T>G (p.Cys290Gly)
c.799T>G (p.Cys267Gly)
n.487T>G
c.663T>G
c.640T>G (p.Cys214Gly)
c.628T>G (p.Cys210Gly)
c.773T>G (n.773T>G)
c.568T>G (p.Cys190Gly)
c.691T>G (p.Cys231Gly)
c.643T>G (p.Cys215Gly)
c.667T>G (p.Cys223Gly)
c.280T>G (p.Cys94Gly)
7g.128398590A>GCA369169746IMPDH1c.790T>C (p.Cys264Arg)
n.773T>C
c.898T>C (p.Cys300Arg)
c.530T>C
c.868T>C (p.Cys290Arg)
c.799T>C (p.Cys267Arg)
n.487T>C
c.663T>C
c.640T>C (p.Cys214Arg)
c.628T>C (p.Cys210Arg)
c.773T>C (n.773T>C)
c.568T>C (p.Cys190Arg)
c.691T>C (p.Cys231Arg)
c.643T>C (p.Cys215Arg)
c.667T>C (p.Cys223Arg)
c.280T>C (p.Cys94Arg)
 dbSNP
7g.128398590A>TCA369169748IMPDH1c.790T>A (p.Cys264Ser)
n.773T>A
c.898T>A (p.Cys300Ser)
c.530T>A
c.868T>A (p.Cys290Ser)
c.799T>A (p.Cys267Ser)
n.487T>A
c.663T>A
c.640T>A (p.Cys214Ser)
c.628T>A (p.Cys210Ser)
c.773T>A (n.773T>A)
c.568T>A (p.Cys190Ser)
c.691T>A (p.Cys231Ser)
c.643T>A (p.Cys215Ser)
c.667T>A (p.Cys223Ser)
c.280T>A (p.Cys94Ser)
7g.128398591A>CCA369169750IMPDH1c.789T>G (p.Asp263Glu)
n.772T>G
c.897T>G (p.Asp299Glu)
c.529T>G
c.867T>G (p.Asp289Glu)
c.798T>G (p.Asp266Glu)
n.486T>G
c.662T>G
c.639T>G (p.Asp213Glu)
c.627T>G (p.Asp209Glu)
c.772T>G (n.772T>G)
c.567T>G (p.Asp189Glu)
c.690T>G (p.Asp230Glu)
c.642T>G (p.Asp214Glu)
c.666T>G (p.Asp222Glu)
c.279T>G (p.Asp93Glu)
7g.128398591A>GCA457528397IMPDH1c.789T>C (p.Asp263=)
n.772T>C
c.897T>C (p.Asp299=)
c.529T>C
c.867T>C (p.Asp289=)
c.798T>C (p.Asp266=)
n.486T>C
c.662T>C
c.639T>C (p.Asp213=)
c.627T>C (p.Asp209=)
c.772T>C (n.772T>C)
c.567T>C (p.Asp189=)
c.690T>C (p.Asp230=)
c.642T>C (p.Asp214=)
c.666T>C (p.Asp222=)
c.279T>C (p.Asp93=)
7g.128398591A>TCA369169754IMPDH1c.789T>A (p.Asp263Glu)
n.772T>A
c.897T>A (p.Asp299Glu)
c.529T>A
c.867T>A (p.Asp289Glu)
c.798T>A (p.Asp266Glu)
n.486T>A
c.662T>A
c.639T>A (p.Asp213Glu)
c.627T>A (p.Asp209Glu)
c.772T>A (n.772T>A)
c.567T>A (p.Asp189Glu)
c.690T>A (p.Asp230Glu)
c.642T>A (p.Asp214Glu)
c.666T>A (p.Asp222Glu)
c.279T>A (p.Asp93Glu)
7g.128398592T>ACA369169756IMPDH1c.788A>T (p.Asp263Val)
n.771A>T
c.896A>T (p.Asp299Val)
c.528A>T
c.866A>T (p.Asp289Val)
c.797A>T (p.Asp266Val)
n.485A>T
c.661A>T
c.638A>T (p.Asp213Val)
c.626A>T (p.Asp209Val)
c.771A>T (n.771A>T)
c.566A>T (p.Asp189Val)
c.689A>T (p.Asp230Val)
c.641A>T (p.Asp214Val)
c.665A>T (p.Asp222Val)
c.278A>T (p.Asp93Val)
7g.128398592T>CCA369169757IMPDH1c.788A>G (p.Asp263Gly)
n.771A>G
c.896A>G (p.Asp299Gly)
c.528A>G
c.866A>G (p.Asp289Gly)
c.797A>G (p.Asp266Gly)
n.485A>G
c.661A>G
c.638A>G (p.Asp213Gly)
c.626A>G (p.Asp209Gly)
c.771A>G (n.771A>G)
c.566A>G (p.Asp189Gly)
c.689A>G (p.Asp230Gly)
c.641A>G (p.Asp214Gly)
c.665A>G (p.Asp222Gly)
c.278A>G (p.Asp93Gly)
7g.128398592T>GCA369169758IMPDH1c.788A>C (p.Asp263Ala)
n.771A>C
c.896A>C (p.Asp299Ala)
c.528A>C
c.866A>C (p.Asp289Ala)
c.797A>C (p.Asp266Ala)
n.485A>C
c.661A>C
c.638A>C (p.Asp213Ala)
c.626A>C (p.Asp209Ala)
c.771A>C (n.771A>C)
c.566A>C (p.Asp189Ala)
c.689A>C (p.Asp230Ala)
c.641A>C (p.Asp214Ala)
c.665A>C (p.Asp222Ala)
c.278A>C (p.Asp93Ala)
7g.128398593C>ACA369169763IMPDH1c.787G>T (p.Asp263Tyr)
n.770G>T
c.895G>T (p.Asp299Tyr)
c.527G>T
c.865G>T (p.Asp289Tyr)
c.796G>T (p.Asp266Tyr)
n.484G>T
c.660G>T
c.637G>T (p.Asp213Tyr)
c.625G>T (p.Asp209Tyr)
c.770G>T (n.770G>T)
c.565G>T (p.Asp189Tyr)
c.688G>T (p.Asp230Tyr)
c.640G>T (p.Asp214Tyr)
c.664G>T (p.Asp222Tyr)
c.277G>T (p.Asp93Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.128398593C=CA1742328483IMPDH1c.787G= (p.Asp263=)
n.770G=
c.895G= (p.Asp299=)
c.527G=
c.865G= (p.Asp289=)
c.796G= (p.Asp266=)
n.484G=
c.660G=
c.637G= (p.Asp213=)
c.625G= (p.Asp209=)
c.770G= (n.770G=)
c.565G= (p.Asp189=)
c.688G= (p.Asp230=)
c.640G= (p.Asp214=)
c.664G= (p.Asp222=)
c.277G= (p.Asp93=)
7g.128398593C>GCA369169765IMPDH1c.787G>C (p.Asp263His)
n.770G>C
c.895G>C (p.Asp299His)
c.527G>C
c.865G>C (p.Asp289His)
c.796G>C (p.Asp266His)
n.484G>C
c.660G>C
c.637G>C (p.Asp213His)
c.625G>C (p.Asp209His)
c.770G>C (n.770G>C)
c.565G>C (p.Asp189His)
c.688G>C (p.Asp230His)
c.640G>C (p.Asp214His)
c.664G>C (p.Asp222His)
c.277G>C (p.Asp93His)
7g.128398593C>TCA369169767IMPDH1c.787G>A (p.Asp263Asn)
n.770G>A
c.895G>A (p.Asp299Asn)
c.527G>A
c.865G>A (p.Asp289Asn)
c.796G>A (p.Asp266Asn)
n.484G>A
c.660G>A
c.637G>A (p.Asp213Asn)
c.625G>A (p.Asp209Asn)
c.770G>A (n.770G>A)
c.565G>A (p.Asp189Asn)
c.688G>A (p.Asp230Asn)
c.640G>A (p.Asp214Asn)
c.664G>A (p.Asp222Asn)
c.277G>A (p.Asp93Asn)
 gnomAD v4
7g.128398594A>CCA369169788IMPDH1c.786T>G (p.Asn262Lys)
n.769T>G
c.894T>G (p.Asn298Lys)
c.526T>G
c.864T>G (p.Asn288Lys)
c.795T>G (p.Asn265Lys)
n.483T>G
c.659T>G
c.636T>G (p.Asn212Lys)
c.624T>G (p.Asn208Lys)
c.769T>G (n.769T>G)
c.564T>G (p.Asn188Lys)
c.687T>G (p.Asn229Lys)
c.639T>G (p.Asn213Lys)
c.663T>G (p.Asn221Lys)
c.276T>G (p.Asn92Lys)
7g.128398594A>GCA457528398IMPDH1c.786T>C (p.Asn262=)
n.769T>C
c.894T>C (p.Asn298=)
c.526T>C
c.864T>C (p.Asn288=)
c.795T>C (p.Asn265=)
n.483T>C
c.659T>C
c.636T>C (p.Asn212=)
c.624T>C (p.Asn208=)
c.769T>C (n.769T>C)
c.564T>C (p.Asn188=)
c.687T>C (p.Asn229=)
c.639T>C (p.Asn213=)
c.663T>C (p.Asn221=)
c.276T>C (p.Asn92=)
 gnomAD v4
7g.128398594A>TCA369169771IMPDH1c.786T>A (p.Asn262Lys)
n.769T>A
c.894T>A (p.Asn298Lys)
c.526T>A
c.864T>A (p.Asn288Lys)
c.795T>A (p.Asn265Lys)
n.483T>A
c.659T>A
c.636T>A (p.Asn212Lys)
c.624T>A (p.Asn208Lys)
c.769T>A (n.769T>A)
c.564T>A (p.Asn188Lys)
c.687T>A (p.Asn229Lys)
c.639T>A (p.Asn213Lys)
c.663T>A (p.Asn221Lys)
c.276T>A (p.Asn92Lys)
7g.128398595T>ACA369169794IMPDH1c.785A>T (p.Asn262Ile)
n.768A>T
c.893A>T (p.Asn298Ile)
c.525A>T
c.863A>T (p.Asn288Ile)
c.794A>T (p.Asn265Ile)
n.482A>T
c.658A>T
c.635A>T (p.Asn212Ile)
c.623A>T (p.Asn208Ile)
c.768A>T (n.768A>T)
c.563A>T (p.Asn188Ile)
c.686A>T (p.Asn229Ile)
c.638A>T (p.Asn213Ile)
c.662A>T (p.Asn221Ile)
c.275A>T (p.Asn92Ile)
7g.128398595T>CCA369169799IMPDH1c.785A>G (p.Asn262Ser)
n.768A>G
c.893A>G (p.Asn298Ser)
c.525A>G
c.863A>G (p.Asn288Ser)
c.794A>G (p.Asn265Ser)
n.482A>G
c.658A>G
c.635A>G (p.Asn212Ser)
c.623A>G (p.Asn208Ser)
c.768A>G (n.768A>G)
c.563A>G (p.Asn188Ser)
c.686A>G (p.Asn229Ser)
c.638A>G (p.Asn213Ser)
c.662A>G (p.Asn221Ser)
c.275A>G (p.Asn92Ser)
 gnomAD v4
7g.128398595T>GCA369169802IMPDH1c.785A>C (p.Asn262Thr)
n.768A>C
c.893A>C (p.Asn298Thr)
c.525A>C
c.863A>C (p.Asn288Thr)
c.794A>C (p.Asn265Thr)
n.482A>C
c.658A>C
c.635A>C (p.Asn212Thr)
c.623A>C (p.Asn208Thr)
c.768A>C (n.768A>C)
c.563A>C (p.Asn188Thr)
c.686A>C (p.Asn229Thr)
c.638A>C (p.Asn213Thr)
c.662A>C (p.Asn221Thr)
c.275A>C (p.Asn92Thr)
7g.128398596T>ACA369169806IMPDH1c.784A>T (p.Asn262Tyr)
n.767A>T
c.892A>T (p.Asn298Tyr)
c.524A>T
c.862A>T (p.Asn288Tyr)
c.793A>T (p.Asn265Tyr)
n.481A>T
c.657A>T
c.634A>T (p.Asn212Tyr)
c.622A>T (p.Asn208Tyr)
c.767A>T (n.767A>T)
c.562A>T (p.Asn188Tyr)
c.685A>T (p.Asn229Tyr)
c.637A>T (p.Asn213Tyr)
c.661A>T (p.Asn221Tyr)
c.274A>T (p.Asn92Tyr)
7g.128398596T>CCA369169812IMPDH1c.784A>G (p.Asn262Asp)
n.767A>G
c.892A>G (p.Asn298Asp)
c.524A>G
c.862A>G (p.Asn288Asp)
c.793A>G (p.Asn265Asp)
n.481A>G
c.657A>G
c.634A>G (p.Asn212Asp)
c.622A>G (p.Asn208Asp)
c.767A>G (n.767A>G)
c.562A>G (p.Asn188Asp)
c.685A>G (p.Asn229Asp)
c.637A>G (p.Asn213Asp)
c.661A>G (p.Asn221Asp)
c.274A>G (p.Asn92Asp)
 ClinVar
7g.128398596T>GCA369169815IMPDH1c.784A>C (p.Asn262His)
n.767A>C
c.892A>C (p.Asn298His)
c.524A>C
c.862A>C (p.Asn288His)
c.793A>C (p.Asn265His)
n.481A>C
c.657A>C
c.634A>C (p.Asn212His)
c.622A>C (p.Asn208His)
c.767A>C (n.767A>C)
c.562A>C (p.Asn188His)
c.685A>C (p.Asn229His)
c.637A>C (p.Asn213His)
c.661A>C (p.Asn221His)
c.274A>C (p.Asn92His)
7g.128398597G>ACA457528399IMPDH1c.783C>T (p.Val261=)
n.766C>T
c.891C>T (p.Val297=)
c.523C>T
c.861C>T (p.Val287=)
c.792C>T (p.Val264=)
n.480C>T
c.656C>T
c.633C>T (p.Val211=)
c.621C>T (p.Val207=)
c.766C>T (n.766C>T)
c.561C>T (p.Val187=)
c.684C>T (p.Val228=)
c.636C>T (p.Val212=)
c.660C>T (p.Val220=)
c.273C>T (p.Val91=)
7g.128398597G>CCA457528401IMPDH1c.783C>G (p.Val261=)
n.766C>G
c.891C>G (p.Val297=)
c.523C>G
c.861C>G (p.Val287=)
c.792C>G (p.Val264=)
n.480C>G
c.656C>G
c.633C>G (p.Val211=)
c.621C>G (p.Val207=)
c.766C>G (n.766C>G)
c.561C>G (p.Val187=)
c.684C>G (p.Val228=)
c.636C>G (p.Val212=)
c.660C>G (p.Val220=)
c.273C>G (p.Val91=)
7g.128398597G>TCA457528400IMPDH1c.783C>A (p.Val261=)
n.766C>A
c.891C>A (p.Val297=)
c.523C>A
c.861C>A (p.Val287=)
c.792C>A (p.Val264=)
n.480C>A
c.656C>A
c.633C>A (p.Val211=)
c.621C>A (p.Val207=)
c.766C>A (n.766C>A)
c.561C>A (p.Val187=)
c.684C>A (p.Val228=)
c.636C>A (p.Val212=)
c.660C>A (p.Val220=)
c.273C>A (p.Val91=)
7g.128398598A=CA1742328493IMPDH1c.782T= (p.Val261=)
n.765T=
c.890T= (p.Val297=)
c.522T=
c.860T= (p.Val287=)
c.791T= (p.Val264=)
n.479T=
c.655T=
c.632T= (p.Val211=)
c.620T= (p.Val207=)
c.765T= (n.765T=)
c.560T= (p.Val187=)
c.683T= (p.Val228=)
c.635T= (p.Val212=)
c.659T= (p.Val220=)
c.272T= (p.Val91=)
7g.128398598A>CCA369169820IMPDH1c.782T>G (p.Val261Gly)
n.765T>G
c.890T>G (p.Val297Gly)
c.522T>G
c.860T>G (p.Val287Gly)
c.791T>G (p.Val264Gly)
n.479T>G
c.655T>G
c.632T>G (p.Val211Gly)
c.620T>G (p.Val207Gly)
c.765T>G (n.765T>G)
c.560T>G (p.Val187Gly)
c.683T>G (p.Val228Gly)
c.635T>G (p.Val212Gly)
c.659T>G (p.Val220Gly)
c.272T>G (p.Val91Gly)
7g.128398598A>GCA4470991IMPDH1c.782T>C (p.Val261Ala)
n.765T>C
c.890T>C (p.Val297Ala)
c.522T>C
c.860T>C (p.Val287Ala)
c.791T>C (p.Val264Ala)
n.479T>C
c.655T>C
c.632T>C (p.Val211Ala)
c.620T>C (p.Val207Ala)
c.765T>C (n.765T>C)
c.560T>C (p.Val187Ala)
c.683T>C (p.Val228Ala)
c.635T>C (p.Val212Ala)
c.659T>C (p.Val220Ala)
c.272T>C (p.Val91Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398598A>TCA369169830IMPDH1c.782T>A (p.Val261Asp)
n.765T>A
c.890T>A (p.Val297Asp)
c.522T>A
c.860T>A (p.Val287Asp)
c.791T>A (p.Val264Asp)
n.479T>A
c.655T>A
c.632T>A (p.Val211Asp)
c.620T>A (p.Val207Asp)
c.765T>A (n.765T>A)
c.560T>A (p.Val187Asp)
c.683T>A (p.Val228Asp)
c.635T>A (p.Val212Asp)
c.659T>A (p.Val220Asp)
c.272T>A (p.Val91Asp)
7g.128398599C>ACA369169836IMPDH1c.781G>T (p.Val261Phe)
n.764G>T
c.889G>T (p.Val297Phe)
c.521G>T
c.859G>T (p.Val287Phe)
c.790G>T (p.Val264Phe)
n.478G>T
c.654G>T
c.631G>T (p.Val211Phe)
c.619G>T (p.Val207Phe)
c.764G>T (n.764G>T)
c.559G>T (p.Val187Phe)
c.682G>T (p.Val228Phe)
c.634G>T (p.Val212Phe)
c.658G>T (p.Val220Phe)
c.271G>T (p.Val91Phe)
7g.128398599C=CA1742328504IMPDH1c.781G= (p.Val261=)
n.764G=
c.889G= (p.Val297=)
c.521G=
c.859G= (p.Val287=)
c.790G= (p.Val264=)
n.478G=
c.654G=
c.631G= (p.Val211=)
c.619G= (p.Val207=)
c.764G= (n.764G=)
c.559G= (p.Val187=)
c.682G= (p.Val228=)
c.634G= (p.Val212=)
c.658G= (p.Val220=)
c.271G= (p.Val91=)
7g.128398599C>GCA369169845IMPDH1c.781G>C (p.Val261Leu)
n.764G>C
c.889G>C (p.Val297Leu)
c.521G>C
c.859G>C (p.Val287Leu)
c.790G>C (p.Val264Leu)
n.478G>C
c.654G>C
c.631G>C (p.Val211Leu)
c.619G>C (p.Val207Leu)
c.764G>C (n.764G>C)
c.559G>C (p.Val187Leu)
c.682G>C (p.Val228Leu)
c.634G>C (p.Val212Leu)
c.658G>C (p.Val220Leu)
c.271G>C (p.Val91Leu)
7g.128398599C>TCA4470992IMPDH1c.781G>A (p.Val261Ile)
n.764G>A
c.889G>A (p.Val297Ile)
c.521G>A
c.859G>A (p.Val287Ile)
c.790G>A (p.Val264Ile)
n.478G>A
c.654G>A
c.631G>A (p.Val211Ile)
c.619G>A (p.Val207Ile)
c.764G>A (n.764G>A)
c.559G>A (p.Val187Ile)
c.682G>A (p.Val228Ile)
c.634G>A (p.Val212Ile)
c.658G>A (p.Val220Ile)
c.271G>A (p.Val91Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.128398600G>ACA4470993IMPDH1c.780C>T (p.Ile260=)
n.763C>T
c.888C>T (p.Ile296=)
c.520C>T
c.858C>T (p.Ile286=)
c.789C>T (p.Ile263=)
n.477C>T
c.653C>T
c.630C>T (p.Ile210=)
c.618C>T (p.Ile206=)
c.763C>T (n.763C>T)
c.558C>T (p.Ile186=)
c.681C>T (p.Ile227=)
c.633C>T (p.Ile211=)
c.657C>T (p.Ile219=)
c.270C>T (p.Ile90=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398600G>CCA369169849IMPDH1c.780C>G (p.Ile260Met)
n.763C>G
c.888C>G (p.Ile296Met)
c.520C>G
c.858C>G (p.Ile286Met)
c.789C>G (p.Ile263Met)
n.477C>G
c.653C>G
c.630C>G (p.Ile210Met)
c.618C>G (p.Ile206Met)
c.763C>G (n.763C>G)
c.558C>G (p.Ile186Met)
c.681C>G (p.Ile227Met)
c.633C>G (p.Ile211Met)
c.657C>G (p.Ile219Met)
c.270C>G (p.Ile90Met)
7g.128398600G=CA1742328508IMPDH1c.780C= (p.Ile260=)
n.763C=
c.888C= (p.Ile296=)
c.520C=
c.858C= (p.Ile286=)
c.789C= (p.Ile263=)
n.477C=
c.653C=
c.630C= (p.Ile210=)
c.618C= (p.Ile206=)
c.763C= (n.763C=)
c.558C= (p.Ile186=)
c.681C= (p.Ile227=)
c.633C= (p.Ile211=)
c.657C= (p.Ile219=)
c.270C= (p.Ile90=)
7g.128398600G>TCA457528402IMPDH1c.780C>A (p.Ile260=)
n.763C>A
c.888C>A (p.Ile296=)
c.520C>A
c.858C>A (p.Ile286=)
c.789C>A (p.Ile263=)
n.477C>A
c.653C>A
c.630C>A (p.Ile210=)
c.618C>A (p.Ile206=)
c.763C>A (n.763C>A)
c.558C>A (p.Ile186=)
c.681C>A (p.Ile227=)
c.633C>A (p.Ile211=)
c.657C>A (p.Ile219=)
c.270C>A (p.Ile90=)
7g.128398601A>CCA369169853IMPDH1c.779T>G (p.Ile260Ser)
n.762T>G
c.887T>G (p.Ile296Ser)
c.519T>G
c.857T>G (p.Ile286Ser)
c.788T>G (p.Ile263Ser)
n.476T>G
c.652T>G
c.629T>G (p.Ile210Ser)
c.617T>G (p.Ile206Ser)
c.762T>G (n.762T>G)
c.557T>G (p.Ile186Ser)
c.680T>G (p.Ile227Ser)
c.632T>G (p.Ile211Ser)
c.656T>G (p.Ile219Ser)
c.269T>G (p.Ile90Ser)
7g.128398601A>GCA369169856IMPDH1c.779T>C (p.Ile260Thr)
n.762T>C
c.887T>C (p.Ile296Thr)
c.519T>C
c.857T>C (p.Ile286Thr)
c.788T>C (p.Ile263Thr)
n.476T>C
c.652T>C
c.629T>C (p.Ile210Thr)
c.617T>C (p.Ile206Thr)
c.762T>C (n.762T>C)
c.557T>C (p.Ile186Thr)
c.680T>C (p.Ile227Thr)
c.632T>C (p.Ile211Thr)
c.656T>C (p.Ile219Thr)
c.269T>C (p.Ile90Thr)
7g.128398601A>TCA369169863IMPDH1c.779T>A (p.Ile260Asn)
n.762T>A
c.887T>A (p.Ile296Asn)
c.519T>A
c.857T>A (p.Ile286Asn)
c.788T>A (p.Ile263Asn)
n.476T>A
c.652T>A
c.629T>A (p.Ile210Asn)
c.617T>A (p.Ile206Asn)
c.762T>A (n.762T>A)
c.557T>A (p.Ile186Asn)
c.680T>A (p.Ile227Asn)
c.632T>A (p.Ile211Asn)
c.656T>A (p.Ile219Asn)
c.269T>A (p.Ile90Asn)
7g.128398602T>ACA369169869IMPDH1c.778A>T (p.Ile260Phe)
n.761A>T
c.886A>T (p.Ile296Phe)
c.518A>T
c.856A>T (p.Ile286Phe)
c.787A>T (p.Ile263Phe)
n.475A>T
c.651A>T
c.628A>T (p.Ile210Phe)
c.616A>T (p.Ile206Phe)
c.761A>T (n.761A>T)
c.556A>T (p.Ile186Phe)
c.679A>T (p.Ile227Phe)
c.631A>T (p.Ile211Phe)
c.655A>T (p.Ile219Phe)
c.268A>T (p.Ile90Phe)
 gnomAD v4
7g.128398602T>CCA4470994IMPDH1c.778A>G (p.Ile260Val)
n.761A>G
c.886A>G (p.Ile296Val)
c.518A>G
c.856A>G (p.Ile286Val)
c.787A>G (p.Ile263Val)
n.475A>G
c.651A>G
c.628A>G (p.Ile210Val)
c.616A>G (p.Ile206Val)
c.761A>G (n.761A>G)
c.556A>G (p.Ile186Val)
c.679A>G (p.Ile227Val)
c.631A>G (p.Ile211Val)
c.655A>G (p.Ile219Val)
c.268A>G (p.Ile90Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398602T>GCA369169882IMPDH1c.778A>C (p.Ile260Leu)
n.761A>C
c.886A>C (p.Ile296Leu)
c.518A>C
c.856A>C (p.Ile286Leu)
c.787A>C (p.Ile263Leu)
n.475A>C
c.651A>C
c.628A>C (p.Ile210Leu)
c.616A>C (p.Ile206Leu)
c.761A>C (n.761A>C)
c.556A>C (p.Ile186Leu)
c.679A>C (p.Ile227Leu)
c.631A>C (p.Ile211Leu)
c.655A>C (p.Ile219Leu)
c.268A>C (p.Ile90Leu)
7g.128398602T=CA1742328515IMPDH1c.778A= (p.Ile260=)
n.761A=
c.886A= (p.Ile296=)
c.518A=
c.856A= (p.Ile286=)
c.787A= (p.Ile263=)
n.475A=
c.651A=
c.628A= (p.Ile210=)
c.616A= (p.Ile206=)
c.761A= (n.761A=)
c.556A= (p.Ile186=)
c.679A= (p.Ile227=)
c.631A= (p.Ile211=)
c.655A= (p.Ile219=)
c.268A= (p.Ile90=)
7g.128398603A>CCA457528403IMPDH1c.777T>G (p.Pro259=)
n.760T>G
c.885T>G (p.Pro295=)
c.517T>G
c.855T>G (p.Pro285=)
c.786T>G (p.Pro262=)
n.474T>G
c.650T>G
c.627T>G (p.Pro209=)
c.615T>G (p.Pro205=)
c.760T>G (n.760T>G)
c.555T>G (p.Pro185=)
c.678T>G (p.Pro226=)
c.630T>G (p.Pro210=)
c.654T>G (p.Pro218=)
c.267T>G (p.Pro89=)
7g.128398603A>GCA457528404IMPDH1c.777T>C (p.Pro259=)
n.760T>C
c.885T>C (p.Pro295=)
c.517T>C
c.855T>C (p.Pro285=)
c.786T>C (p.Pro262=)
n.474T>C
c.650T>C
c.627T>C (p.Pro209=)
c.615T>C (p.Pro205=)
c.760T>C (n.760T>C)
c.555T>C (p.Pro185=)
c.678T>C (p.Pro226=)
c.630T>C (p.Pro210=)
c.654T>C (p.Pro218=)
c.267T>C (p.Pro89=)
 gnomAD v4
7g.128398603A>TCA457528405IMPDH1c.777T>A (p.Pro259=)
n.760T>A
c.885T>A (p.Pro295=)
c.517T>A
c.855T>A (p.Pro285=)
c.786T>A (p.Pro262=)
n.474T>A
c.650T>A
c.627T>A (p.Pro209=)
c.615T>A (p.Pro205=)
c.760T>A (n.760T>A)
c.555T>A (p.Pro185=)
c.678T>A (p.Pro226=)
c.630T>A (p.Pro210=)
c.654T>A (p.Pro218=)
c.267T>A (p.Pro89=)
7g.128398604G>ACA369169888IMPDH1c.776C>T (p.Pro259Leu)
n.759C>T
c.884C>T (p.Pro295Leu)
c.516C>T
c.854C>T (p.Pro285Leu)
c.785C>T (p.Pro262Leu)
n.473C>T
c.649C>T
c.626C>T (p.Pro209Leu)
c.614C>T (p.Pro205Leu)
c.759C>T (n.759C>T)
c.554C>T (p.Pro185Leu)
c.677C>T (p.Pro226Leu)
c.629C>T (p.Pro210Leu)
c.653C>T (p.Pro218Leu)
c.266C>T (p.Pro89Leu)
7g.128398604G>CCA369169896IMPDH1c.776C>G (p.Pro259Arg)
n.759C>G
c.884C>G (p.Pro295Arg)
c.516C>G
c.854C>G (p.Pro285Arg)
c.785C>G (p.Pro262Arg)
n.473C>G
c.649C>G
c.626C>G (p.Pro209Arg)
c.614C>G (p.Pro205Arg)
c.759C>G (n.759C>G)
c.554C>G (p.Pro185Arg)
c.677C>G (p.Pro226Arg)
c.629C>G (p.Pro210Arg)
c.653C>G (p.Pro218Arg)
c.266C>G (p.Pro89Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.128398604G=CA1742328567IMPDH1c.776C= (p.Pro259=)
n.759C=
c.884C= (p.Pro295=)
c.516C=
c.854C= (p.Pro285=)
c.785C= (p.Pro262=)
n.473C=
c.649C=
c.626C= (p.Pro209=)
c.614C= (p.Pro205=)
c.759C= (n.759C=)
c.554C= (p.Pro185=)
c.677C= (p.Pro226=)
c.629C= (p.Pro210=)
c.653C= (p.Pro218=)
c.266C= (p.Pro89=)
7g.128398604G>TCA369169892IMPDH1c.776C>A (p.Pro259His)
n.759C>A
c.884C>A (p.Pro295His)
c.516C>A
c.854C>A (p.Pro285His)
c.785C>A (p.Pro262His)
n.473C>A
c.649C>A
c.626C>A (p.Pro209His)
c.614C>A (p.Pro205His)
c.759C>A (n.759C>A)
c.554C>A (p.Pro185His)
c.677C>A (p.Pro226His)
c.629C>A (p.Pro210His)
c.653C>A (p.Pro218His)
c.266C>A (p.Pro89His)
7g.128398605G>ACA369169899IMPDH1c.775C>T (p.Pro259Ser)
n.758C>T
c.883C>T (p.Pro295Ser)
c.515C>T
c.853C>T (p.Pro285Ser)
c.784C>T (p.Pro262Ser)
n.472C>T
c.648C>T
c.625C>T (p.Pro209Ser)
c.613C>T (p.Pro205Ser)
c.758C>T (n.758C>T)
c.553C>T (p.Pro185Ser)
c.676C>T (p.Pro226Ser)
c.628C>T (p.Pro210Ser)
c.652C>T (p.Pro218Ser)
c.265C>T (p.Pro89Ser)
7g.128398605G>CCA369169901IMPDH1c.775C>G (p.Pro259Ala)
n.758C>G
c.883C>G (p.Pro295Ala)
c.515C>G
c.853C>G (p.Pro285Ala)
c.784C>G (p.Pro262Ala)
n.472C>G
c.648C>G
c.625C>G (p.Pro209Ala)
c.613C>G (p.Pro205Ala)
c.758C>G (n.758C>G)
c.553C>G (p.Pro185Ala)
c.676C>G (p.Pro226Ala)
c.628C>G (p.Pro210Ala)
c.652C>G (p.Pro218Ala)
c.265C>G (p.Pro89Ala)
7g.128398605G>TCA369169900IMPDH1c.775C>A (p.Pro259Thr)
n.758C>A
c.883C>A (p.Pro295Thr)
c.515C>A
c.853C>A (p.Pro285Thr)
c.784C>A (p.Pro262Thr)
n.472C>A
c.648C>A
c.625C>A (p.Pro209Thr)
c.613C>A (p.Pro205Thr)
c.758C>A (n.758C>A)
c.553C>A (p.Pro185Thr)
c.676C>A (p.Pro226Thr)
c.628C>A (p.Pro210Thr)
c.652C>A (p.Pro218Thr)
c.265C>A (p.Pro89Thr)
7g.128398606C>ACA457528407IMPDH1c.774G>T (p.Leu258=)
n.757G>T
c.882G>T (p.Leu294=)
c.514G>T
c.852G>T (p.Leu284=)
c.783G>T (p.Leu261=)
n.471G>T
c.647G>T
c.624G>T (p.Leu208=)
c.612G>T (p.Leu204=)
c.757G>T (n.757G>T)
c.552G>T (p.Leu184=)
c.675G>T (p.Leu225=)
c.627G>T (p.Leu209=)
c.651G>T (p.Leu217=)
c.264G>T (p.Leu88=)
 dbSNP gnomAD v2 gnomAD v4
7g.128398606C=CA1742328577IMPDH1c.774G= (p.Leu258=)
n.757G=
c.882G= (p.Leu294=)
c.514G=
c.852G= (p.Leu284=)
c.783G= (p.Leu261=)
n.471G=
c.647G=
c.624G= (p.Leu208=)
c.612G= (p.Leu204=)
c.757G= (n.757G=)
c.552G= (p.Leu184=)
c.675G= (p.Leu225=)
c.627G= (p.Leu209=)
c.651G= (p.Leu217=)
c.264G= (p.Leu88=)
7g.128398606C>GCA457528408IMPDH1c.774G>C (p.Leu258=)
n.757G>C
c.882G>C (p.Leu294=)
c.514G>C
c.852G>C (p.Leu284=)
c.783G>C (p.Leu261=)
n.471G>C
c.647G>C
c.624G>C (p.Leu208=)
c.612G>C (p.Leu204=)
c.757G>C (n.757G>C)
c.552G>C (p.Leu184=)
c.675G>C (p.Leu225=)
c.627G>C (p.Leu209=)
c.651G>C (p.Leu217=)
c.264G>C (p.Leu88=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.128398606C>TCA457528406IMPDH1c.774G>A (p.Leu258=)
n.757G>A
c.882G>A (p.Leu294=)
c.514G>A
c.852G>A (p.Leu284=)
c.783G>A (p.Leu261=)
n.471G>A
c.647G>A
c.624G>A (p.Leu208=)
c.612G>A (p.Leu204=)
c.757G>A (n.757G>A)
c.552G>A (p.Leu184=)
c.675G>A (p.Leu225=)
c.627G>A (p.Leu209=)
c.651G>A (p.Leu217=)
c.264G>A (p.Leu88=)
7g.128398607A>CCA369169902IMPDH1c.773T>G (p.Leu258Arg)
n.756T>G
c.881T>G (p.Leu294Arg)
c.513T>G
c.851T>G (p.Leu284Arg)
c.782T>G (p.Leu261Arg)
n.470T>G
c.646T>G
c.623T>G (p.Leu208Arg)
c.611T>G (p.Leu204Arg)
c.756T>G (n.756T>G)
c.551T>G (p.Leu184Arg)
c.674T>G (p.Leu225Arg)
c.626T>G (p.Leu209Arg)
c.650T>G (p.Leu217Arg)
c.263T>G (p.Leu88Arg)
7g.128398607A>GCA369169904IMPDH1c.773T>C (p.Leu258Pro)
n.756T>C
c.881T>C (p.Leu294Pro)
c.513T>C
c.851T>C (p.Leu284Pro)
c.782T>C (p.Leu261Pro)
n.470T>C
c.646T>C
c.623T>C (p.Leu208Pro)
c.611T>C (p.Leu204Pro)
c.756T>C (n.756T>C)
c.551T>C (p.Leu184Pro)
c.674T>C (p.Leu225Pro)
c.626T>C (p.Leu209Pro)
c.650T>C (p.Leu217Pro)
c.263T>C (p.Leu88Pro)
7g.128398607A>TCA369169908IMPDH1c.773T>A (p.Leu258Gln)
n.756T>A
c.881T>A (p.Leu294Gln)
c.513T>A
c.851T>A (p.Leu284Gln)
c.782T>A (p.Leu261Gln)
n.470T>A
c.646T>A
c.623T>A (p.Leu208Gln)
c.611T>A (p.Leu204Gln)
c.756T>A (n.756T>A)
c.551T>A (p.Leu184Gln)
c.674T>A (p.Leu225Gln)
c.626T>A (p.Leu209Gln)
c.650T>A (p.Leu217Gln)
c.263T>A (p.Leu88Gln)
7g.128398608G>ACA457528409IMPDH1c.772C>T (p.Leu258=)
n.755C>T
c.880C>T (p.Leu294=)
c.512C>T
c.850C>T (p.Leu284=)
c.781C>T (p.Leu261=)
n.469C>T
c.645C>T
c.622C>T (p.Leu208=)
c.610C>T (p.Leu204=)
c.755C>T (n.755C>T)
c.550C>T (p.Leu184=)
c.673C>T (p.Leu225=)
c.625C>T (p.Leu209=)
c.649C>T (p.Leu217=)
c.262C>T (p.Leu88=)
7g.128398608G>CCA369169915IMPDH1c.772C>G (p.Leu258Val)
n.755C>G
c.880C>G (p.Leu294Val)
c.512C>G
c.850C>G (p.Leu284Val)
c.781C>G (p.Leu261Val)
n.469C>G
c.645C>G
c.622C>G (p.Leu208Val)
c.610C>G (p.Leu204Val)
c.755C>G (n.755C>G)
c.550C>G (p.Leu184Val)
c.673C>G (p.Leu225Val)
c.625C>G (p.Leu209Val)
c.649C>G (p.Leu217Val)
c.262C>G (p.Leu88Val)
7g.128398608G>TCA369169919IMPDH1c.772C>A (p.Leu258Met)
n.755C>A
c.880C>A (p.Leu294Met)
c.512C>A
c.850C>A (p.Leu284Met)
c.781C>A (p.Leu261Met)
n.469C>A
c.645C>A
c.622C>A (p.Leu208Met)
c.610C>A (p.Leu204Met)
c.755C>A (n.755C>A)
c.550C>A (p.Leu184Met)
c.673C>A (p.Leu225Met)
c.625C>A (p.Leu209Met)
c.649C>A (p.Leu217Met)
c.262C>A (p.Leu88Met)
7g.128398609C>ACA369169928IMPDH1c.771G>T (p.Lys257Asn)
n.754G>T
c.879G>T (p.Lys293Asn)
c.511G>T
c.849G>T (p.Lys283Asn)
c.780G>T (p.Lys260Asn)
n.468G>T
c.644G>T
c.621G>T (p.Lys207Asn)
c.609G>T (p.Lys203Asn)
c.754G>T (n.754G>T)
c.549G>T (p.Lys183Asn)
c.672G>T (p.Lys224Asn)
c.624G>T (p.Lys208Asn)
c.648G>T (p.Lys216Asn)
c.261G>T (p.Lys87Asn)
 gnomAD v4
7g.128398609C>GCA369169932IMPDH1c.771G>C (p.Lys257Asn)
n.754G>C
c.879G>C (p.Lys293Asn)
c.511G>C
c.849G>C (p.Lys283Asn)
c.780G>C (p.Lys260Asn)
n.468G>C
c.644G>C
c.621G>C (p.Lys207Asn)
c.609G>C (p.Lys203Asn)
c.754G>C (n.754G>C)
c.549G>C (p.Lys183Asn)
c.672G>C (p.Lys224Asn)
c.624G>C (p.Lys208Asn)
c.648G>C (p.Lys216Asn)
c.261G>C (p.Lys87Asn)
7g.128398609C>TCA457528410IMPDH1c.771G>A (p.Lys257=)
n.754G>A
c.879G>A (p.Lys293=)
c.511G>A
c.849G>A (p.Lys283=)
c.780G>A (p.Lys260=)
n.468G>A
c.644G>A
c.621G>A (p.Lys207=)
c.609G>A (p.Lys203=)
c.754G>A (n.754G>A)
c.549G>A (p.Lys183=)
c.672G>A (p.Lys224=)
c.624G>A (p.Lys208=)
c.648G>A (p.Lys216=)
c.261G>A (p.Lys87=)
7g.128398610T>ACA369169944IMPDH1c.770A>T (p.Lys257Met)
n.753A>T
c.878A>T (p.Lys293Met)
c.510A>T
c.848A>T (p.Lys283Met)
c.779A>T (p.Lys260Met)
n.467A>T
c.643A>T
c.620A>T (p.Lys207Met)
c.608A>T (p.Lys203Met)
c.753A>T (n.753A>T)
c.548A>T (p.Lys183Met)
c.671A>T (p.Lys224Met)
c.623A>T (p.Lys208Met)
c.647A>T (p.Lys216Met)
c.260A>T (p.Lys87Met)
7g.128398610T>CCA4470995IMPDH1c.770A>G (p.Lys257Arg)
n.753A>G
c.878A>G (p.Lys293Arg)
c.510A>G
c.848A>G (p.Lys283Arg)
c.779A>G (p.Lys260Arg)
n.467A>G
c.643A>G
c.620A>G (p.Lys207Arg)
c.608A>G (p.Lys203Arg)
c.753A>G (n.753A>G)
c.548A>G (p.Lys183Arg)
c.671A>G (p.Lys224Arg)
c.623A>G (p.Lys208Arg)
c.647A>G (p.Lys216Arg)
c.260A>G (p.Lys87Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398610T>GCA369169949IMPDH1c.770A>C (p.Lys257Thr)
n.753A>C
c.878A>C (p.Lys293Thr)
c.510A>C
c.848A>C (p.Lys283Thr)
c.779A>C (p.Lys260Thr)
n.467A>C
c.643A>C
c.620A>C (p.Lys207Thr)
c.608A>C (p.Lys203Thr)
c.753A>C (n.753A>C)
c.548A>C (p.Lys183Thr)
c.671A>C (p.Lys224Thr)
c.623A>C (p.Lys208Thr)
c.647A>C (p.Lys216Thr)
c.260A>C (p.Lys87Thr)
7g.128398610T=CA1742328581IMPDH1c.770A= (p.Lys257=)
n.753A=
c.878A= (p.Lys293=)
c.510A=
c.848A= (p.Lys283=)
c.779A= (p.Lys260=)
n.467A=
c.643A=
c.620A= (p.Lys207=)
c.608A= (p.Lys203=)
c.753A= (n.753A=)
c.548A= (p.Lys183=)
c.671A= (p.Lys224=)
c.623A= (p.Lys208=)
c.647A= (p.Lys216=)
c.260A= (p.Lys87=)
7g.128398611T>ACA369169951IMPDH1c.769A>T (p.Lys257Ter)
n.752A>T
c.877A>T (p.Lys293Ter)
c.509A>T
c.847A>T (p.Lys283Ter)
c.778A>T (p.Lys260Ter)
n.466A>T
c.642A>T
c.619A>T (p.Lys207Ter)
c.607A>T (p.Lys203Ter)
c.752A>T (n.752A>T)
c.547A>T (p.Lys183Ter)
c.670A>T (p.Lys224Ter)
c.622A>T (p.Lys208Ter)
c.646A>T (p.Lys216Ter)
c.259A>T (p.Lys87Ter)
7g.128398611T>CCA369169955IMPDH1c.769A>G (p.Lys257Glu)
n.752A>G
c.877A>G (p.Lys293Glu)
c.509A>G
c.847A>G (p.Lys283Glu)
c.778A>G (p.Lys260Glu)
n.466A>G
c.642A>G
c.619A>G (p.Lys207Glu)
c.607A>G (p.Lys203Glu)
c.752A>G (n.752A>G)
c.547A>G (p.Lys183Glu)
c.670A>G (p.Lys224Glu)
c.622A>G (p.Lys208Glu)
c.646A>G (p.Lys216Glu)
c.259A>G (p.Lys87Glu)
7g.128398611T>GCA4470996IMPDH1c.769A>C (p.Lys257Gln)
n.752A>C
c.877A>C (p.Lys293Gln)
c.509A>C
c.847A>C (p.Lys283Gln)
c.778A>C (p.Lys260Gln)
n.466A>C
c.642A>C
c.619A>C (p.Lys207Gln)
c.607A>C (p.Lys203Gln)
c.752A>C (n.752A>C)
c.547A>C (p.Lys183Gln)
c.670A>C (p.Lys224Gln)
c.622A>C (p.Lys208Gln)
c.646A>C (p.Lys216Gln)
c.259A>C (p.Lys87Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398611T=CA1742328585IMPDH1c.769A= (p.Lys257=)
n.752A=
c.877A= (p.Lys293=)
c.509A=
c.847A= (p.Lys283=)
c.778A= (p.Lys260=)
n.466A=
c.642A=
c.619A= (p.Lys207=)
c.607A= (p.Lys203=)
c.752A= (n.752A=)
c.547A= (p.Lys183=)
c.670A= (p.Lys224=)
c.622A= (p.Lys208=)
c.646A= (p.Lys216=)
c.259A= (p.Lys87=)
7g.128398612C>ACA457528411IMPDH1c.768G>T (p.Gly256=)
n.751G>T
c.876G>T (p.Gly292=)
c.508G>T
c.846G>T (p.Gly282=)
c.777G>T (p.Gly259=)
n.465G>T
c.641G>T
c.618G>T (p.Gly206=)
c.606G>T (p.Gly202=)
c.751G>T (n.751G>T)
c.546G>T (p.Gly182=)
c.669G>T (p.Gly223=)
c.621G>T (p.Gly207=)
c.645G>T (p.Gly215=)
c.258G>T (p.Gly86=)
7g.128398612C=CA1742328599IMPDH1c.768G= (p.Gly256=)
n.751G=
c.876G= (p.Gly292=)
c.508G=
c.846G= (p.Gly282=)
c.777G= (p.Gly259=)
n.465G=
c.641G=
c.618G= (p.Gly206=)
c.606G= (p.Gly202=)
c.751G= (n.751G=)
c.546G= (p.Gly182=)
c.669G= (p.Gly223=)
c.621G= (p.Gly207=)
c.645G= (p.Gly215=)
c.258G= (p.Gly86=)
7g.128398612C>GCA457528412IMPDH1c.768G>C (p.Gly256=)
n.751G>C
c.876G>C (p.Gly292=)
c.508G>C
c.846G>C (p.Gly282=)
c.777G>C (p.Gly259=)
n.465G>C
c.641G>C
c.618G>C (p.Gly206=)
c.606G>C (p.Gly202=)
c.751G>C (n.751G>C)
c.546G>C (p.Gly182=)
c.669G>C (p.Gly223=)
c.621G>C (p.Gly207=)
c.645G>C (p.Gly215=)
c.258G>C (p.Gly86=)
 dbSNP
7g.128398612C>TCA457528413IMPDH1c.768G>A (p.Gly256=)
n.751G>A
c.876G>A (p.Gly292=)
c.508G>A
c.846G>A (p.Gly282=)
c.777G>A (p.Gly259=)
n.465G>A
c.641G>A
c.618G>A (p.Gly206=)
c.606G>A (p.Gly202=)
c.751G>A (n.751G>A)
c.546G>A (p.Gly182=)
c.669G>A (p.Gly223=)
c.621G>A (p.Gly207=)
c.645G>A (p.Gly215=)
c.258G>A (p.Gly86=)
7g.128398613C>ACA369169962IMPDH1c.767G>T (p.Gly256Val)
n.750G>T
c.875G>T (p.Gly292Val)
c.507G>T
c.845G>T (p.Gly282Val)
c.776G>T (p.Gly259Val)
n.464G>T
c.640G>T
c.617G>T (p.Gly206Val)
c.605G>T (p.Gly202Val)
c.750G>T (n.750G>T)
c.545G>T (p.Gly182Val)
c.668G>T (p.Gly223Val)
c.620G>T (p.Gly207Val)
c.644G>T (p.Gly215Val)
c.257G>T (p.Gly86Val)
7g.128398613C=CA1742328605IMPDH1c.767G= (p.Gly256=)
n.750G=
c.875G= (p.Gly292=)
c.507G=
c.845G= (p.Gly282=)
c.776G= (p.Gly259=)
n.464G=
c.640G=
c.617G= (p.Gly206=)
c.605G= (p.Gly202=)
c.750G= (n.750G=)
c.545G= (p.Gly182=)
c.668G= (p.Gly223=)
c.620G= (p.Gly207=)
c.644G= (p.Gly215=)
c.257G= (p.Gly86=)
7g.128398613C>GCA369169970IMPDH1c.767G>C (p.Gly256Ala)
n.750G>C
c.875G>C (p.Gly292Ala)
c.507G>C
c.845G>C (p.Gly282Ala)
c.776G>C (p.Gly259Ala)
n.464G>C
c.640G>C
c.617G>C (p.Gly206Ala)
c.605G>C (p.Gly202Ala)
c.750G>C (n.750G>C)
c.545G>C (p.Gly182Ala)
c.668G>C (p.Gly223Ala)
c.620G>C (p.Gly207Ala)
c.644G>C (p.Gly215Ala)
c.257G>C (p.Gly86Ala)
7g.128398613C>TCA369169967IMPDH1c.767G>A (p.Gly256Glu)
n.750G>A
c.875G>A (p.Gly292Glu)
c.507G>A
c.845G>A (p.Gly282Glu)
c.776G>A (p.Gly259Glu)
n.464G>A
c.640G>A
c.617G>A (p.Gly206Glu)
c.605G>A (p.Gly202Glu)
c.750G>A (n.750G>A)
c.545G>A (p.Gly182Glu)
c.668G>A (p.Gly223Glu)
c.620G>A (p.Gly207Glu)
c.644G>A (p.Gly215Glu)
c.257G>A (p.Gly86Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128398614C>ACA369169975IMPDH1c.767-1G>T (n.767-1G>T)
n.750-1G>T
c.875-1G>T (n.875-1G>T)
c.507-1G>T
c.845-1G>T (n.845-1G>T)
c.776-1G>T (n.776-1G>T)
n.464-1G>T
c.640-1G>T
c.617-1G>T (n.617-1G>T)
c.605-1G>T (n.605-1G>T)
c.750-1G>T (n.750-1G>T)
c.545-1G>T (n.545-1G>T)
c.668-1G>T (n.668-1G>T)
c.620-1G>T (n.620-1G>T)
c.644-1G>T (n.644-1G>T)
c.257-1G>T (n.257-1G>T)
7g.128398614C>GCA369169981IMPDH1c.767-1G>C (n.767-1G>C)
n.750-1G>C
c.875-1G>C (n.875-1G>C)
c.507-1G>C
c.845-1G>C (n.845-1G>C)
c.776-1G>C (n.776-1G>C)
n.464-1G>C
c.640-1G>C
c.617-1G>C (n.617-1G>C)
c.605-1G>C (n.605-1G>C)
c.750-1G>C (n.750-1G>C)
c.545-1G>C (n.545-1G>C)
c.668-1G>C (n.668-1G>C)
c.620-1G>C (n.620-1G>C)
c.644-1G>C (n.644-1G>C)
c.257-1G>C (n.257-1G>C)
7g.128398614C>TCA369169985IMPDH1c.767-1G>A (n.767-1G>A)
n.750-1G>A
c.875-1G>A (n.875-1G>A)
c.507-1G>A
c.845-1G>A (n.845-1G>A)
c.776-1G>A (n.776-1G>A)
n.464-1G>A
c.640-1G>A
c.617-1G>A (n.617-1G>A)
c.605-1G>A (n.605-1G>A)
c.750-1G>A (n.750-1G>A)
c.545-1G>A (n.545-1G>A)
c.668-1G>A (n.668-1G>A)
c.620-1G>A (n.620-1G>A)
c.644-1G>A (n.644-1G>A)
c.257-1G>A (n.257-1G>A)
7g.128398615T>ACA369169986IMPDH1c.767-2A>T (n.767-2A>T)
n.750-2A>T
c.875-2A>T (n.875-2A>T)
c.507-2A>T
c.845-2A>T (n.845-2A>T)
c.776-2A>T (n.776-2A>T)
n.464-2A>T
c.640-2A>T
c.617-2A>T (n.617-2A>T)
c.605-2A>T (n.605-2A>T)
c.750-2A>T (n.750-2A>T)
c.545-2A>T (n.545-2A>T)
c.668-2A>T (n.668-2A>T)
c.620-2A>T (n.620-2A>T)
c.644-2A>T (n.644-2A>T)
c.257-2A>T (n.257-2A>T)
7g.128398615T>CCA369169987IMPDH1c.767-2A>G (n.767-2A>G)
n.750-2A>G
c.875-2A>G (n.875-2A>G)
c.507-2A>G
c.845-2A>G (n.845-2A>G)
c.776-2A>G (n.776-2A>G)
n.464-2A>G
c.640-2A>G
c.617-2A>G (n.617-2A>G)
c.605-2A>G (n.605-2A>G)
c.750-2A>G (n.750-2A>G)
c.545-2A>G (n.545-2A>G)
c.668-2A>G (n.668-2A>G)
c.620-2A>G (n.620-2A>G)
c.644-2A>G (n.644-2A>G)
c.257-2A>G (n.257-2A>G)
7g.128398615T>GCA369169988IMPDH1c.767-2A>C (n.767-2A>C)
n.750-2A>C
c.875-2A>C (n.875-2A>C)
c.507-2A>C
c.845-2A>C (n.845-2A>C)
c.776-2A>C (n.776-2A>C)
n.464-2A>C
c.640-2A>C
c.617-2A>C (n.617-2A>C)
c.605-2A>C (n.605-2A>C)
c.750-2A>C (n.750-2A>C)
c.545-2A>C (n.545-2A>C)
c.668-2A>C (n.668-2A>C)
c.620-2A>C (n.620-2A>C)
c.644-2A>C (n.644-2A>C)
c.257-2A>C (n.257-2A>C)
7g.128398616G>ACA4470997IMPDH1c.767-3C>T (n.767-3C>T)
n.750-3C>T
c.875-3C>T (n.875-3C>T)
c.507-3C>T
c.845-3C>T (n.845-3C>T)
c.776-3C>T (n.776-3C>T)
n.464-3C>T
c.640-3C>T
c.617-3C>T (n.617-3C>T)
c.605-3C>T (n.605-3C>T)
c.750-3C>T (n.750-3C>T)
c.545-3C>T (n.545-3C>T)
c.668-3C>T (n.668-3C>T)
c.620-3C>T (n.620-3C>T)
c.644-3C>T (n.644-3C>T)
c.257-3C>T (n.257-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398616G=CA1742328607IMPDH1c.767-3C= (n.767-3C=)
n.750-3C=
c.875-3C= (n.875-3C=)
c.507-3C=
c.845-3C= (n.845-3C=)
c.776-3C= (n.776-3C=)
n.464-3C=
c.640-3C=
c.617-3C= (n.617-3C=)
c.605-3C= (n.605-3C=)
c.750-3C= (n.750-3C=)
c.545-3C= (n.545-3C=)
c.668-3C= (n.668-3C=)
c.620-3C= (n.620-3C=)
c.644-3C= (n.644-3C=)
c.257-3C= (n.257-3C=)
7g.128398617A=CA1742328610IMPDH1c.767-4T= (n.767-4T=)
n.750-4T=
c.875-4T= (n.875-4T=)
c.507-4T=
c.845-4T= (n.845-4T=)
c.776-4T= (n.776-4T=)
n.464-4T=
c.640-4T=
c.617-4T= (n.617-4T=)
c.605-4T= (n.605-4T=)
c.750-4T= (n.750-4T=)
c.545-4T= (n.545-4T=)
c.668-4T= (n.668-4T=)
c.620-4T= (n.620-4T=)
c.644-4T= (n.644-4T=)
c.257-4T= (n.257-4T=)
7g.128398617A>GCA577707361IMPDH1c.767-4T>C (n.767-4T>C)
n.750-4T>C
c.875-4T>C (n.875-4T>C)
c.507-4T>C
c.845-4T>C (n.845-4T>C)
c.776-4T>C (n.776-4T>C)
n.464-4T>C
c.640-4T>C
c.617-4T>C (n.617-4T>C)
c.605-4T>C (n.605-4T>C)
c.750-4T>C (n.750-4T>C)
c.545-4T>C (n.545-4T>C)
c.668-4T>C (n.668-4T>C)
c.620-4T>C (n.620-4T>C)
c.644-4T>C (n.644-4T>C)
c.257-4T>C (n.257-4T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.128398619A>GCA2777839035IMPDH1c.767-6T>C (n.767-6T>C)
n.750-6T>C
c.875-6T>C (n.875-6T>C)
c.507-6T>C
c.845-6T>C (n.845-6T>C)
c.776-6T>C (n.776-6T>C)
n.464-6T>C
c.640-6T>C
c.617-6T>C (n.617-6T>C)
c.605-6T>C (n.605-6T>C)
c.750-6T>C (n.750-6T>C)
c.545-6T>C (n.545-6T>C)
c.668-6T>C (n.668-6T>C)
c.620-6T>C (n.620-6T>C)
c.644-6T>C (n.644-6T>C)
c.257-6T>C (n.257-6T>C)
7g.128398620A=CA1742328612IMPDH1c.767-7T= (n.767-7T=)
n.750-7T=
c.875-7T= (n.875-7T=)
c.507-7T=
c.845-7T= (n.845-7T=)
c.776-7T= (n.776-7T=)
n.464-7T=
c.640-7T=
c.617-7T= (n.617-7T=)
c.605-7T= (n.605-7T=)
c.750-7T= (n.750-7T=)
c.545-7T= (n.545-7T=)
c.668-7T= (n.668-7T=)
c.620-7T= (n.620-7T=)
c.644-7T= (n.644-7T=)
c.257-7T= (n.257-7T=)
7g.128398621G>ACA4470998IMPDH1c.767-8C>T (n.767-8C>T)
n.750-8C>T
c.875-8C>T (n.875-8C>T)
c.507-8C>T
c.845-8C>T (n.845-8C>T)
c.776-8C>T (n.776-8C>T)
n.464-8C>T
c.640-8C>T
c.617-8C>T (n.617-8C>T)
c.605-8C>T (n.605-8C>T)
c.750-8C>T (n.750-8C>T)
c.545-8C>T (n.545-8C>T)
c.668-8C>T (n.668-8C>T)
c.620-8C>T (n.620-8C>T)
c.644-8C>T (n.644-8C>T)
c.257-8C>T (n.257-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398621G=CA1742328620IMPDH1c.767-8C= (n.767-8C=)
n.750-8C=
c.875-8C= (n.875-8C=)
c.507-8C=
c.845-8C= (n.845-8C=)
c.776-8C= (n.776-8C=)
n.464-8C=
c.640-8C=
c.617-8C= (n.617-8C=)
c.605-8C= (n.605-8C=)
c.750-8C= (n.750-8C=)
c.545-8C= (n.545-8C=)
c.668-8C= (n.668-8C=)
c.620-8C= (n.620-8C=)
c.644-8C= (n.644-8C=)
c.257-8C= (n.257-8C=)
7g.128398621G>TCA2684777654IMPDH1c.767-8C>A (n.767-8C>A)
n.750-8C>A
c.875-8C>A (n.875-8C>A)
c.507-8C>A
c.845-8C>A (n.845-8C>A)
c.776-8C>A (n.776-8C>A)
n.464-8C>A
c.640-8C>A
c.617-8C>A (n.617-8C>A)
c.605-8C>A (n.605-8C>A)
c.750-8C>A (n.750-8C>A)
c.545-8C>A (n.545-8C>A)
c.668-8C>A (n.668-8C>A)
c.620-8C>A (n.620-8C>A)
c.644-8C>A (n.644-8C>A)
c.257-8C>A (n.257-8C>A)
 gnomAD v4
7g.128398622dupCA1742328615IMPDH1c.767-8dup (n.767-8dup)
n.750-8dup
c.875-8dup (n.875-8dup)
c.507-8dup
c.845-8dup (n.845-8dup)
c.776-8dup (n.776-8dup)
n.464-8dup
c.640-8dup
c.617-8dup (n.617-8dup)
c.605-8dup (n.605-8dup)
c.750-8dup (n.750-8dup)
c.545-8dup (n.545-8dup)
c.668-8dup (n.668-8dup)
c.620-8dup (n.620-8dup)
c.644-8dup (n.644-8dup)
c.257-8dup (n.257-8dup)
 dbSNP
7g.128398622G>CCA1107042216IMPDH1c.767-9C>G (n.767-9C>G)
n.750-9C>G
c.875-9C>G (n.875-9C>G)
c.507-9C>G
c.845-9C>G (n.845-9C>G)
c.776-9C>G (n.776-9C>G)
n.464-9C>G
c.640-9C>G
c.617-9C>G (n.617-9C>G)
c.605-9C>G (n.605-9C>G)
c.750-9C>G (n.750-9C>G)
c.545-9C>G (n.545-9C>G)
c.668-9C>G (n.668-9C>G)
c.620-9C>G (n.620-9C>G)
c.644-9C>G (n.644-9C>G)
c.257-9C>G (n.257-9C>G)
 dbSNP gnomAD v3 gnomAD v4
7g.128398622G=CA1742328624IMPDH1c.767-9C= (n.767-9C=)
n.750-9C=
c.875-9C= (n.875-9C=)
c.507-9C=
c.845-9C= (n.845-9C=)
c.776-9C= (n.776-9C=)
n.464-9C=
c.640-9C=
c.617-9C= (n.617-9C=)
c.605-9C= (n.605-9C=)
c.750-9C= (n.750-9C=)
c.545-9C= (n.545-9C=)
c.668-9C= (n.668-9C=)
c.620-9C= (n.620-9C=)
c.644-9C= (n.644-9C=)
c.257-9C= (n.257-9C=)
7g.128398622G>TCA2684777655IMPDH1c.767-9C>A (n.767-9C>A)
n.750-9C>A
c.875-9C>A (n.875-9C>A)
c.507-9C>A
c.845-9C>A (n.845-9C>A)
c.776-9C>A (n.776-9C>A)
n.464-9C>A
c.640-9C>A
c.617-9C>A (n.617-9C>A)
c.605-9C>A (n.605-9C>A)
c.750-9C>A (n.750-9C>A)
c.545-9C>A (n.545-9C>A)
c.668-9C>A (n.668-9C>A)
c.620-9C>A (n.620-9C>A)
c.644-9C>A (n.644-9C>A)
c.257-9C>A (n.257-9C>A)
 gnomAD v4
7g.128398624A>GCA2684777656IMPDH1c.767-11T>C (n.767-11T>C)
n.750-11T>C
c.875-11T>C (n.875-11T>C)
c.507-11T>C
c.845-11T>C (n.845-11T>C)
c.776-11T>C (n.776-11T>C)
n.464-11T>C
c.640-11T>C
c.617-11T>C (n.617-11T>C)
c.605-11T>C (n.605-11T>C)
c.750-11T>C (n.750-11T>C)
c.545-11T>C (n.545-11T>C)
c.668-11T>C (n.668-11T>C)
c.620-11T>C (n.620-11T>C)
c.644-11T>C (n.644-11T>C)
c.257-11T>C (n.257-11T>C)
 gnomAD v4
7g.128398625T>CCA2697557594IMPDH1c.767-12A>G (n.767-12A>G)
n.750-12A>G
c.875-12A>G (n.875-12A>G)
c.507-12A>G
c.845-12A>G (n.845-12A>G)
c.776-12A>G (n.776-12A>G)
n.464-12A>G
c.640-12A>G
c.617-12A>G (n.617-12A>G)
c.605-12A>G (n.605-12A>G)
c.750-12A>G (n.750-12A>G)
c.545-12A>G (n.545-12A>G)
c.668-12A>G (n.668-12A>G)
c.620-12A>G (n.620-12A>G)
c.644-12A>G (n.644-12A>G)
c.257-12A>G (n.257-12A>G)
 ClinVar
7g.128398626G>ACA2684777657IMPDH1c.767-13C>T (n.767-13C>T)
n.750-13C>T
c.875-13C>T (n.875-13C>T)
c.507-13C>T
c.845-13C>T (n.845-13C>T)
c.776-13C>T (n.776-13C>T)
n.464-13C>T
c.640-13C>T
c.617-13C>T (n.617-13C>T)
c.605-13C>T (n.605-13C>T)
c.750-13C>T (n.750-13C>T)
c.545-13C>T (n.545-13C>T)
c.668-13C>T (n.668-13C>T)
c.620-13C>T (n.620-13C>T)
c.644-13C>T (n.644-13C>T)
c.257-13C>T (n.257-13C>T)
 gnomAD v4
7g.128398626G>CCA4470999IMPDH1c.767-13C>G (n.767-13C>G)
n.750-13C>G
c.875-13C>G (n.875-13C>G)
c.507-13C>G
c.845-13C>G (n.845-13C>G)
c.776-13C>G (n.776-13C>G)
n.464-13C>G
c.640-13C>G
c.617-13C>G (n.617-13C>G)
c.605-13C>G (n.605-13C>G)
c.750-13C>G (n.750-13C>G)
c.545-13C>G (n.545-13C>G)
c.668-13C>G (n.668-13C>G)
c.620-13C>G (n.620-13C>G)
c.644-13C>G (n.644-13C>G)
c.257-13C>G (n.257-13C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398626G=CA1742328628IMPDH1c.767-13C= (n.767-13C=)
n.750-13C=
c.875-13C= (n.875-13C=)
c.507-13C=
c.845-13C= (n.845-13C=)
c.776-13C= (n.776-13C=)
n.464-13C=
c.640-13C=
c.617-13C= (n.617-13C=)
c.605-13C= (n.605-13C=)
c.750-13C= (n.750-13C=)
c.545-13C= (n.545-13C=)
c.668-13C= (n.668-13C=)
c.620-13C= (n.620-13C=)
c.644-13C= (n.644-13C=)
c.257-13C= (n.257-13C=)
7g.128398627C=CA1742328633IMPDH1c.767-14G= (n.767-14G=)
n.750-14G=
c.875-14G= (n.875-14G=)
c.507-14G=
c.845-14G= (n.845-14G=)
c.776-14G= (n.776-14G=)
n.464-14G=
c.640-14G=
c.617-14G= (n.617-14G=)
c.605-14G= (n.605-14G=)
c.750-14G= (n.750-14G=)
c.545-14G= (n.545-14G=)
c.668-14G= (n.668-14G=)
c.620-14G= (n.620-14G=)
c.644-14G= (n.644-14G=)
c.257-14G= (n.257-14G=)
7g.128398627C>GCA2684777660IMPDH1c.767-14G>C (n.767-14G>C)
n.750-14G>C
c.875-14G>C (n.875-14G>C)
c.507-14G>C
c.845-14G>C (n.845-14G>C)
c.776-14G>C (n.776-14G>C)
n.464-14G>C
c.640-14G>C
c.617-14G>C (n.617-14G>C)
c.605-14G>C (n.605-14G>C)
c.750-14G>C (n.750-14G>C)
c.545-14G>C (n.545-14G>C)
c.668-14G>C (n.668-14G>C)
c.620-14G>C (n.620-14G>C)
c.644-14G>C (n.644-14G>C)
c.257-14G>C (n.257-14G>C)
 gnomAD v4
7g.128398627C>TCA577707363IMPDH1c.767-14G>A (n.767-14G>A)
n.750-14G>A
c.875-14G>A (n.875-14G>A)
c.507-14G>A
c.845-14G>A (n.845-14G>A)
c.776-14G>A (n.776-14G>A)
n.464-14G>A
c.640-14G>A
c.617-14G>A (n.617-14G>A)
c.605-14G>A (n.605-14G>A)
c.750-14G>A (n.750-14G>A)
c.545-14G>A (n.545-14G>A)
c.668-14G>A (n.668-14G>A)
c.620-14G>A (n.620-14G>A)
c.644-14G>A (n.644-14G>A)
c.257-14G>A (n.257-14G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.128398628A>CCA2684777662IMPDH1c.767-15T>G (n.767-15T>G)
n.750-15T>G
c.875-15T>G (n.875-15T>G)
c.507-15T>G
c.845-15T>G (n.845-15T>G)
c.776-15T>G (n.776-15T>G)
n.464-15T>G
c.640-15T>G
c.617-15T>G (n.617-15T>G)
c.605-15T>G (n.605-15T>G)
c.750-15T>G (n.750-15T>G)
c.545-15T>G (n.545-15T>G)
c.668-15T>G (n.668-15T>G)
c.620-15T>G (n.620-15T>G)
c.644-15T>G (n.644-15T>G)
c.257-15T>G (n.257-15T>G)
 gnomAD v4
7g.128398628dupCA2684777661IMPDH1c.767-15dup (n.767-15dup)
n.750-15dup
c.875-15dup (n.875-15dup)
c.507-15dup
c.845-15dup (n.845-15dup)
c.776-15dup (n.776-15dup)
n.464-15dup
c.640-15dup
c.617-15dup (n.617-15dup)
c.605-15dup (n.605-15dup)
c.750-15dup (n.750-15dup)
c.545-15dup (n.545-15dup)
c.668-15dup (n.668-15dup)
c.620-15dup (n.620-15dup)
c.644-15dup (n.644-15dup)
c.257-15dup (n.257-15dup)
 gnomAD v4
7g.128398629G>CCA4471000IMPDH1c.767-16C>G (n.767-16C>G)
n.750-16C>G
c.875-16C>G (n.875-16C>G)
c.507-16C>G
c.845-16C>G (n.845-16C>G)
c.776-16C>G (n.776-16C>G)
n.464-16C>G
c.640-16C>G
c.617-16C>G (n.617-16C>G)
c.605-16C>G (n.605-16C>G)
c.750-16C>G (n.750-16C>G)
c.545-16C>G (n.545-16C>G)
c.668-16C>G (n.668-16C>G)
c.620-16C>G (n.620-16C>G)
c.644-16C>G (n.644-16C>G)
c.257-16C>G (n.257-16C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398629G=CA1742328636IMPDH1c.767-16C= (n.767-16C=)
n.750-16C=
c.875-16C= (n.875-16C=)
c.507-16C=
c.845-16C= (n.845-16C=)
c.776-16C= (n.776-16C=)
n.464-16C=
c.640-16C=
c.617-16C= (n.617-16C=)
c.605-16C= (n.605-16C=)
c.750-16C= (n.750-16C=)
c.545-16C= (n.545-16C=)
c.668-16C= (n.668-16C=)
c.620-16C= (n.620-16C=)
c.644-16C= (n.644-16C=)
c.257-16C= (n.257-16C=)
7g.128398632delCA2684777664IMPDH1c.767-16del (n.767-16del)
n.750-16del
c.875-16del (n.875-16del)
c.507-16del
c.845-16del (n.845-16del)
c.776-16del (n.776-16del)
n.464-16del
c.640-16del
c.617-16del (n.617-16del)
c.605-16del (n.605-16del)
c.750-16del (n.750-16del)
c.545-16del (n.545-16del)
c.668-16del (n.668-16del)
c.620-16del (n.620-16del)
c.644-16del (n.644-16del)
c.257-16del (n.257-16del)
 gnomAD v4
7g.128398630G>TCA2684777665IMPDH1c.767-17C>A (n.767-17C>A)
n.750-17C>A
c.875-17C>A (n.875-17C>A)
c.507-17C>A
c.845-17C>A (n.845-17C>A)
c.776-17C>A (n.776-17C>A)
n.464-17C>A
c.640-17C>A
c.617-17C>A (n.617-17C>A)
c.605-17C>A (n.605-17C>A)
c.750-17C>A (n.750-17C>A)
c.545-17C>A (n.545-17C>A)
c.668-17C>A (n.668-17C>A)
c.620-17C>A (n.620-17C>A)
c.644-17C>A (n.644-17C>A)
c.257-17C>A (n.257-17C>A)
 gnomAD v4
7g.128398631G>ACA166126250IMPDH1c.767-18C>T (n.767-18C>T)
n.750-18C>T
c.875-18C>T (n.875-18C>T)
c.507-18C>T
c.845-18C>T (n.845-18C>T)
c.776-18C>T (n.776-18C>T)
n.464-18C>T
c.640-18C>T
c.617-18C>T (n.617-18C>T)
c.605-18C>T (n.605-18C>T)
c.750-18C>T (n.750-18C>T)
c.545-18C>T (n.545-18C>T)
c.668-18C>T (n.668-18C>T)
c.620-18C>T (n.620-18C>T)
c.644-18C>T (n.644-18C>T)
c.257-18C>T (n.257-18C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128398631G>CCA2580076519IMPDH1c.767-18C>G (n.767-18C>G)
n.750-18C>G
c.875-18C>G (n.875-18C>G)
c.507-18C>G
c.845-18C>G (n.845-18C>G)
c.776-18C>G (n.776-18C>G)
n.464-18C>G
c.640-18C>G
c.617-18C>G (n.617-18C>G)
c.605-18C>G (n.605-18C>G)
c.750-18C>G (n.750-18C>G)
c.545-18C>G (n.545-18C>G)
c.668-18C>G (n.668-18C>G)
c.620-18C>G (n.620-18C>G)
c.644-18C>G (n.644-18C>G)
c.257-18C>G (n.257-18C>G)
 ClinVar
7g.128398631G=CA1742328640IMPDH1c.767-18C= (n.767-18C=)
n.750-18C=
c.875-18C= (n.875-18C=)
c.507-18C=
c.845-18C= (n.845-18C=)
c.776-18C= (n.776-18C=)
n.464-18C=
c.640-18C=
c.617-18C= (n.617-18C=)
c.605-18C= (n.605-18C=)
c.750-18C= (n.750-18C=)
c.545-18C= (n.545-18C=)
c.668-18C= (n.668-18C=)
c.620-18C= (n.620-18C=)
c.644-18C= (n.644-18C=)
c.257-18C= (n.257-18C=)
7g.128398631G>TCA2684777666IMPDH1c.767-18C>A (n.767-18C>A)
n.750-18C>A
c.875-18C>A (n.875-18C>A)
c.507-18C>A
c.845-18C>A (n.845-18C>A)
c.776-18C>A (n.776-18C>A)
n.464-18C>A
c.640-18C>A
c.617-18C>A (n.617-18C>A)
c.605-18C>A (n.605-18C>A)
c.750-18C>A (n.750-18C>A)
c.545-18C>A (n.545-18C>A)
c.668-18C>A (n.668-18C>A)
c.620-18C>A (n.620-18C>A)
c.644-18C>A (n.644-18C>A)
c.257-18C>A (n.257-18C>A)
 gnomAD v4
7g.128398632G>ACA1742328645IMPDH1c.767-19C>T (n.767-19C>T)
n.750-19C>T
c.875-19C>T (n.875-19C>T)
c.507-19C>T
c.845-19C>T (n.845-19C>T)
c.776-19C>T (n.776-19C>T)
n.464-19C>T
c.640-19C>T
c.617-19C>T (n.617-19C>T)
c.605-19C>T (n.605-19C>T)
c.750-19C>T (n.750-19C>T)
c.545-19C>T (n.545-19C>T)
c.668-19C>T (n.668-19C>T)
c.620-19C>T (n.620-19C>T)
c.644-19C>T (n.644-19C>T)
c.257-19C>T (n.257-19C>T)
 dbSNP gnomAD v4
7g.128398632G=CA1742328643IMPDH1c.767-19C= (n.767-19C=)
n.750-19C=
c.875-19C= (n.875-19C=)
c.507-19C=
c.845-19C= (n.845-19C=)
c.776-19C= (n.776-19C=)
n.464-19C=
c.640-19C=
c.617-19C= (n.617-19C=)
c.605-19C= (n.605-19C=)
c.750-19C= (n.750-19C=)
c.545-19C= (n.545-19C=)
c.668-19C= (n.668-19C=)
c.620-19C= (n.620-19C=)
c.644-19C= (n.644-19C=)
c.257-19C= (n.257-19C=)
7g.128398632G>TCA2684777669IMPDH1c.767-19C>A (n.767-19C>A)
n.750-19C>A
c.875-19C>A (n.875-19C>A)
c.507-19C>A
c.845-19C>A (n.845-19C>A)
c.776-19C>A (n.776-19C>A)
n.464-19C>A
c.640-19C>A
c.617-19C>A (n.617-19C>A)
c.605-19C>A (n.605-19C>A)
c.750-19C>A (n.750-19C>A)
c.545-19C>A (n.545-19C>A)
c.668-19C>A (n.668-19C>A)
c.620-19C>A (n.620-19C>A)
c.644-19C>A (n.644-19C>A)
c.257-19C>A (n.257-19C>A)
 gnomAD v4
7g.128398633T>GCA1742328652IMPDH1c.767-20A>C (n.767-20A>C)
n.750-20A>C
c.875-20A>C (n.875-20A>C)
c.507-20A>C
c.845-20A>C (n.845-20A>C)
c.776-20A>C (n.776-20A>C)
n.464-20A>C
c.640-20A>C
c.617-20A>C (n.617-20A>C)
c.605-20A>C (n.605-20A>C)
c.750-20A>C (n.750-20A>C)
c.545-20A>C (n.545-20A>C)
c.668-20A>C (n.668-20A>C)
c.620-20A>C (n.620-20A>C)
c.644-20A>C (n.644-20A>C)
c.257-20A>C (n.257-20A>C)
 dbSNP
7g.128398633T=CA1742328650IMPDH1c.767-20A= (n.767-20A=)
n.750-20A=
c.875-20A= (n.875-20A=)
c.507-20A=
c.845-20A= (n.845-20A=)
c.776-20A= (n.776-20A=)
n.464-20A=
c.640-20A=
c.617-20A= (n.617-20A=)
c.605-20A= (n.605-20A=)
c.750-20A= (n.750-20A=)
c.545-20A= (n.545-20A=)
c.668-20A= (n.668-20A=)
c.620-20A= (n.620-20A=)
c.644-20A= (n.644-20A=)
c.257-20A= (n.257-20A=)
7g.128398634G>TCA2684777672IMPDH1c.767-21C>A (n.767-21C>A)
n.750-21C>A
c.875-21C>A (n.875-21C>A)
c.507-21C>A
c.845-21C>A (n.845-21C>A)
c.776-21C>A (n.776-21C>A)
n.464-21C>A
c.640-21C>A
c.617-21C>A (n.617-21C>A)
c.605-21C>A (n.605-21C>A)
c.750-21C>A (n.750-21C>A)
c.545-21C>A (n.545-21C>A)
c.668-21C>A (n.668-21C>A)
c.620-21C>A (n.620-21C>A)
c.644-21C>A (n.644-21C>A)
c.257-21C>A (n.257-21C>A)
 gnomAD v4
7g.128398637delCA2579011719IMPDH1c.767-22del (n.767-22del)
n.750-22del
c.875-22del (n.875-22del)
c.507-22del
c.845-22del (n.845-22del)
c.776-22del (n.776-22del)
n.464-22del
c.640-22del
c.617-22del (n.617-22del)
c.605-22del (n.605-22del)
c.750-22del (n.750-22del)
c.545-22del (n.545-22del)
c.668-22del (n.668-22del)
c.620-22del (n.620-22del)
c.644-22del (n.644-22del)
c.257-22del (n.257-22del)
7g.128398636A=CA1742328653IMPDH1c.767-23T= (n.767-23T=)
n.750-23T=
c.875-23T= (n.875-23T=)
c.507-23T=
c.845-23T= (n.845-23T=)
c.776-23T= (n.776-23T=)
n.464-23T=
c.640-23T=
c.617-23T= (n.617-23T=)
c.605-23T= (n.605-23T=)
c.750-23T= (n.750-23T=)
c.545-23T= (n.545-23T=)
c.668-23T= (n.668-23T=)
c.620-23T= (n.620-23T=)
c.644-23T= (n.644-23T=)
c.257-23T= (n.257-23T=)
7g.128398636A>GCA4471001IMPDH1c.767-23T>C (n.767-23T>C)
n.750-23T>C
c.875-23T>C (n.875-23T>C)
c.507-23T>C
c.845-23T>C (n.845-23T>C)
c.776-23T>C (n.776-23T>C)
n.464-23T>C
c.640-23T>C
c.617-23T>C (n.617-23T>C)
c.605-23T>C (n.605-23T>C)
c.750-23T>C (n.750-23T>C)
c.545-23T>C (n.545-23T>C)
c.668-23T>C (n.668-23T>C)
c.620-23T>C (n.620-23T>C)
c.644-23T>C (n.644-23T>C)
c.257-23T>C (n.257-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398637A>GCA2579011721IMPDH1c.767-24T>C (n.767-24T>C)
n.750-24T>C
c.875-24T>C (n.875-24T>C)
c.507-24T>C
c.845-24T>C (n.845-24T>C)
c.776-24T>C (n.776-24T>C)
n.464-24T>C
c.640-24T>C
c.617-24T>C (n.617-24T>C)
c.605-24T>C (n.605-24T>C)
c.750-24T>C (n.750-24T>C)
c.545-24T>C (n.545-24T>C)
c.668-24T>C (n.668-24T>C)
c.620-24T>C (n.620-24T>C)
c.644-24T>C (n.644-24T>C)
c.257-24T>C (n.257-24T>C)
7g.128398638T>CCA2684777674IMPDH1c.767-25A>G (n.767-25A>G)
n.750-25A>G
c.875-25A>G (n.875-25A>G)
c.507-25A>G
c.845-25A>G (n.845-25A>G)
c.776-25A>G (n.776-25A>G)
n.464-25A>G
c.640-25A>G
c.617-25A>G (n.617-25A>G)
c.605-25A>G (n.605-25A>G)
c.750-25A>G (n.750-25A>G)
c.545-25A>G (n.545-25A>G)
c.668-25A>G (n.668-25A>G)
c.620-25A>G (n.620-25A>G)
c.644-25A>G (n.644-25A>G)
c.257-25A>G (n.257-25A>G)
 gnomAD v4
7g.128398639G>CCA2504873424IMPDH1c.767-26C>G (n.767-26C>G)
n.750-26C>G
c.875-26C>G (n.875-26C>G)
c.507-26C>G
c.845-26C>G (n.845-26C>G)
c.776-26C>G (n.776-26C>G)
n.464-26C>G
c.640-26C>G
c.617-26C>G (n.617-26C>G)
c.605-26C>G (n.605-26C>G)
c.750-26C>G (n.750-26C>G)
c.545-26C>G (n.545-26C>G)
c.668-26C>G (n.668-26C>G)
c.620-26C>G (n.620-26C>G)
c.644-26C>G (n.644-26C>G)
c.257-26C>G (n.257-26C>G)
7g.128398639G>TCA2684777675IMPDH1c.767-26C>A (n.767-26C>A)
n.750-26C>A
c.875-26C>A (n.875-26C>A)
c.507-26C>A
c.845-26C>A (n.845-26C>A)
c.776-26C>A (n.776-26C>A)
n.464-26C>A
c.640-26C>A
c.617-26C>A (n.617-26C>A)
c.605-26C>A (n.605-26C>A)
c.750-26C>A (n.750-26C>A)
c.545-26C>A (n.545-26C>A)
c.668-26C>A (n.668-26C>A)
c.620-26C>A (n.620-26C>A)
c.644-26C>A (n.644-26C>A)
c.257-26C>A (n.257-26C>A)
 gnomAD v4
7g.128398642G>ACA4471002IMPDH1c.767-29C>T (n.767-29C>T)
n.750-29C>T
c.875-29C>T (n.875-29C>T)
c.507-29C>T
c.845-29C>T (n.845-29C>T)
c.776-29C>T (n.776-29C>T)
n.464-29C>T
c.640-29C>T
c.617-29C>T (n.617-29C>T)
c.605-29C>T (n.605-29C>T)
c.750-29C>T (n.750-29C>T)
c.545-29C>T (n.545-29C>T)
c.668-29C>T (n.668-29C>T)
c.620-29C>T (n.620-29C>T)
c.644-29C>T (n.644-29C>T)
c.257-29C>T (n.257-29C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.128398642G=CA1742328656IMPDH1c.767-29C= (n.767-29C=)
n.750-29C=
c.875-29C= (n.875-29C=)
c.507-29C=
c.845-29C= (n.845-29C=)
c.776-29C= (n.776-29C=)
n.464-29C=
c.640-29C=
c.617-29C= (n.617-29C=)
c.605-29C= (n.605-29C=)
c.750-29C= (n.750-29C=)
c.545-29C= (n.545-29C=)
c.668-29C= (n.668-29C=)
c.620-29C= (n.620-29C=)
c.644-29C= (n.644-29C=)
c.257-29C= (n.257-29C=)
7g.128398642G>TCA2684777677IMPDH1c.767-29C>A (n.767-29C>A)
n.750-29C>A
c.875-29C>A (n.875-29C>A)
c.507-29C>A
c.845-29C>A (n.845-29C>A)
c.776-29C>A (n.776-29C>A)
n.464-29C>A
c.640-29C>A
c.617-29C>A (n.617-29C>A)
c.605-29C>A (n.605-29C>A)
c.750-29C>A (n.750-29C>A)
c.545-29C>A (n.545-29C>A)
c.668-29C>A (n.668-29C>A)
c.620-29C>A (n.620-29C>A)
c.644-29C>A (n.644-29C>A)
c.257-29C>A (n.257-29C>A)
 gnomAD v4
7g.128398643C>ACA577707367IMPDH1c.767-30G>T (n.767-30G>T)
n.750-30G>T
c.875-30G>T (n.875-30G>T)
c.507-30G>T
c.845-30G>T (n.845-30G>T)
c.776-30G>T (n.776-30G>T)
n.464-30G>T
c.640-30G>T
c.617-30G>T (n.617-30G>T)
c.605-30G>T (n.605-30G>T)
c.750-30G>T (n.750-30G>T)
c.545-30G>T (n.545-30G>T)
c.668-30G>T (n.668-30G>T)
c.620-30G>T (n.620-30G>T)
c.644-30G>T (n.644-30G>T)
c.257-30G>T (n.257-30G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.128398643C=CA1742328662IMPDH1c.767-30G= (n.767-30G=)
n.750-30G=
c.875-30G= (n.875-30G=)
c.507-30G=
c.845-30G= (n.845-30G=)
c.776-30G= (n.776-30G=)
n.464-30G=
c.640-30G=
c.617-30G= (n.617-30G=)
c.605-30G= (n.605-30G=)
c.750-30G= (n.750-30G=)
c.545-30G= (n.545-30G=)
c.668-30G= (n.668-30G=)
c.620-30G= (n.620-30G=)
c.644-30G= (n.644-30G=)
c.257-30G= (n.257-30G=)
7g.128398643C>TCA577707368IMPDH1c.767-30G>A (n.767-30G>A)
n.750-30G>A
c.875-30G>A (n.875-30G>A)
c.507-30G>A
c.845-30G>A (n.845-30G>A)
c.776-30G>A (n.776-30G>A)
n.464-30G>A
c.640-30G>A
c.617-30G>A (n.617-30G>A)
c.605-30G>A (n.605-30G>A)
c.750-30G>A (n.750-30G>A)
c.545-30G>A (n.545-30G>A)
c.668-30G>A (n.668-30G>A)
c.620-30G>A (n.620-30G>A)
c.644-30G>A (n.644-30G>A)
c.257-30G>A (n.257-30G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.128398644A=CA1742328665IMPDH1c.767-31T= (n.767-31T=)
n.750-31T=
c.875-31T= (n.875-31T=)
c.507-31T=
c.845-31T= (n.845-31T=)
c.776-31T= (n.776-31T=)
n.464-31T=
c.640-31T=
c.617-31T= (n.617-31T=)
c.605-31T= (n.605-31T=)
c.750-31T= (n.750-31T=)
c.545-31T= (n.545-31T=)
c.668-31T= (n.668-31T=)
c.620-31T= (n.620-31T=)
c.644-31T= (n.644-31T=)
c.257-31T= (n.257-31T=)
7g.128398644A>GCA1742328668IMPDH1c.767-31T>C (n.767-31T>C)
n.750-31T>C
c.875-31T>C (n.875-31T>C)
c.507-31T>C
c.845-31T>C (n.845-31T>C)
c.776-31T>C (n.776-31T>C)
n.464-31T>C
c.640-31T>C
c.617-31T>C (n.617-31T>C)
c.605-31T>C (n.605-31T>C)
c.750-31T>C (n.750-31T>C)
c.545-31T>C (n.545-31T>C)
c.668-31T>C (n.668-31T>C)
c.620-31T>C (n.620-31T>C)
c.644-31T>C (n.644-31T>C)
c.257-31T>C (n.257-31T>C)
 dbSNP gnomAD v4
7g.128398645G>TCA2684777680IMPDH1c.767-32C>A (n.767-32C>A)
n.750-32C>A
c.875-32C>A (n.875-32C>A)
c.507-32C>A
c.845-32C>A (n.845-32C>A)
c.776-32C>A (n.776-32C>A)
n.464-32C>A
c.640-32C>A
c.617-32C>A (n.617-32C>A)
c.605-32C>A (n.605-32C>A)
c.750-32C>A (n.750-32C>A)
c.545-32C>A (n.545-32C>A)
c.668-32C>A (n.668-32C>A)
c.620-32C>A (n.620-32C>A)
c.644-32C>A (n.644-32C>A)
c.257-32C>A (n.257-32C>A)
 gnomAD v4
7g.128398646G>ACA2684777681IMPDH1c.767-33C>T (n.767-33C>T)
n.750-33C>T
c.875-33C>T (n.875-33C>T)
c.507-33C>T
c.845-33C>T (n.845-33C>T)
c.776-33C>T (n.776-33C>T)
n.464-33C>T
c.640-33C>T
c.617-33C>T (n.617-33C>T)
c.605-33C>T (n.605-33C>T)
c.750-33C>T (n.750-33C>T)
c.545-33C>T (n.545-33C>T)
c.668-33C>T (n.668-33C>T)
c.620-33C>T (n.620-33C>T)
c.644-33C>T (n.644-33C>T)
c.257-33C>T (n.257-33C>T)
 gnomAD v4
7g.128398646G>TCA2684777682IMPDH1c.767-33C>A (n.767-33C>A)
n.750-33C>A
c.875-33C>A (n.875-33C>A)
c.507-33C>A
c.845-33C>A (n.845-33C>A)
c.776-33C>A (n.776-33C>A)
n.464-33C>A
c.640-33C>A
c.617-33C>A (n.617-33C>A)
c.605-33C>A (n.605-33C>A)
c.750-33C>A (n.750-33C>A)
c.545-33C>A (n.545-33C>A)
c.668-33C>A (n.668-33C>A)
c.620-33C>A (n.620-33C>A)
c.644-33C>A (n.644-33C>A)
c.257-33C>A (n.257-33C>A)
 gnomAD v4
7g.128398647C>TCA2684777683IMPDH1c.767-34G>A (n.767-34G>A)
n.750-34G>A
c.875-34G>A (n.875-34G>A)
c.507-34G>A
c.845-34G>A (n.845-34G>A)
c.776-34G>A (n.776-34G>A)
n.464-34G>A
c.640-34G>A
c.617-34G>A (n.617-34G>A)
c.605-34G>A (n.605-34G>A)
c.750-34G>A (n.750-34G>A)
c.545-34G>A (n.545-34G>A)
c.668-34G>A (n.668-34G>A)
c.620-34G>A (n.620-34G>A)
c.644-34G>A (n.644-34G>A)
c.257-34G>A (n.257-34G>A)
 gnomAD v4
7g.128398650G>TCA2684777684IMPDH1c.767-37C>A (n.767-37C>A)
n.750-37C>A
c.875-37C>A (n.875-37C>A)
c.507-37C>A
c.845-37C>A (n.845-37C>A)
c.776-37C>A (n.776-37C>A)
n.464-37C>A
c.640-37C>A
c.617-37C>A (n.617-37C>A)
c.605-37C>A (n.605-37C>A)
c.750-37C>A (n.750-37C>A)
c.545-37C>A (n.545-37C>A)
c.668-37C>A (n.668-37C>A)
c.620-37C>A (n.620-37C>A)
c.644-37C>A (n.644-37C>A)
c.257-37C>A (n.257-37C>A)
 gnomAD v4
7g.128398651G>ACA2684777686IMPDH1c.767-38C>T (n.767-38C>T)
n.750-38C>T
c.875-38C>T (n.875-38C>T)
c.507-38C>T
c.845-38C>T (n.845-38C>T)
c.776-38C>T (n.776-38C>T)
n.464-38C>T
c.640-38C>T
c.617-38C>T (n.617-38C>T)
c.605-38C>T (n.605-38C>T)
c.750-38C>T (n.750-38C>T)
c.545-38C>T (n.545-38C>T)
c.668-38C>T (n.668-38C>T)
c.620-38C>T (n.620-38C>T)
c.644-38C>T (n.644-38C>T)
c.257-38C>T (n.257-38C>T)
 gnomAD v4
7g.128398651G>TCA2684777687IMPDH1c.767-38C>A (n.767-38C>A)
n.750-38C>A
c.875-38C>A (n.875-38C>A)
c.507-38C>A
c.845-38C>A (n.845-38C>A)
c.776-38C>A (n.776-38C>A)
n.464-38C>A
c.640-38C>A
c.617-38C>A (n.617-38C>A)
c.605-38C>A (n.605-38C>A)
c.750-38C>A (n.750-38C>A)
c.545-38C>A (n.545-38C>A)
c.668-38C>A (n.668-38C>A)
c.620-38C>A (n.620-38C>A)
c.644-38C>A (n.644-38C>A)
c.257-38C>A (n.257-38C>A)
 gnomAD v4
7g.128398652T>GCA1742328675IMPDH1c.767-39A>C (n.767-39A>C)
n.750-39A>C
c.875-39A>C (n.875-39A>C)
c.507-39A>C
c.845-39A>C (n.845-39A>C)
c.776-39A>C (n.776-39A>C)
n.464-39A>C
c.640-39A>C
c.617-39A>C (n.617-39A>C)
c.605-39A>C (n.605-39A>C)
c.750-39A>C (n.750-39A>C)
c.545-39A>C (n.545-39A>C)
c.668-39A>C (n.668-39A>C)
c.620-39A>C (n.620-39A>C)
c.644-39A>C (n.644-39A>C)
c.257-39A>C (n.257-39A>C)
 dbSNP
7g.128398652T=CA1742328673IMPDH1c.767-39A= (n.767-39A=)
n.750-39A=
c.875-39A= (n.875-39A=)
c.507-39A=
c.845-39A= (n.845-39A=)
c.776-39A= (n.776-39A=)
n.464-39A=
c.640-39A=
c.617-39A= (n.617-39A=)
c.605-39A= (n.605-39A=)
c.750-39A= (n.750-39A=)
c.545-39A= (n.545-39A=)
c.668-39A= (n.668-39A=)
c.620-39A= (n.620-39A=)
c.644-39A= (n.644-39A=)
c.257-39A= (n.257-39A=)
7g.128398653G>ACA577707369IMPDH1c.767-40C>T (n.767-40C>T)
n.750-40C>T
c.875-40C>T (n.875-40C>T)
c.507-40C>T
c.845-40C>T (n.845-40C>T)
c.776-40C>T (n.776-40C>T)
n.464-40C>T
c.640-40C>T
c.617-40C>T (n.617-40C>T)
c.605-40C>T (n.605-40C>T)
c.750-40C>T (n.750-40C>T)
c.545-40C>T (n.545-40C>T)
c.668-40C>T (n.668-40C>T)
c.620-40C>T (n.620-40C>T)
c.644-40C>T (n.644-40C>T)
c.257-40C>T (n.257-40C>T)
 dbSNP gnomAD v2 gnomAD v4
7g.128398653G=CA1742328679IMPDH1c.767-40C= (n.767-40C=)
n.750-40C=
c.875-40C= (n.875-40C=)
c.507-40C=
c.845-40C= (n.845-40C=)
c.776-40C= (n.776-40C=)
n.464-40C=
c.640-40C=
c.617-40C= (n.617-40C=)
c.605-40C= (n.605-40C=)
c.750-40C= (n.750-40C=)
c.545-40C= (n.545-40C=)
c.668-40C= (n.668-40C=)
c.620-40C= (n.620-40C=)
c.644-40C= (n.644-40C=)
c.257-40C= (n.257-40C=)
7g.128398653G>TCA2684777688IMPDH1c.767-40C>A (n.767-40C>A)
n.750-40C>A
c.875-40C>A (n.875-40C>A)
c.507-40C>A
c.845-40C>A (n.845-40C>A)
c.776-40C>A (n.776-40C>A)
n.464-40C>A
c.640-40C>A
c.617-40C>A (n.617-40C>A)
c.605-40C>A (n.605-40C>A)
c.750-40C>A (n.750-40C>A)
c.545-40C>A (n.545-40C>A)
c.668-40C>A (n.668-40C>A)
c.620-40C>A (n.620-40C>A)
c.644-40C>A (n.644-40C>A)
c.257-40C>A (n.257-40C>A)
 gnomAD v4
7g.128398656delCA2579011723IMPDH1c.767-40del (n.767-40del)
n.750-40del
c.875-40del (n.875-40del)
c.507-40del
c.845-40del (n.845-40del)
c.776-40del (n.776-40del)
n.464-40del
c.640-40del
c.617-40del (n.617-40del)
c.605-40del (n.605-40del)
c.750-40del (n.750-40del)
c.545-40del (n.545-40del)
c.668-40del (n.668-40del)
c.620-40del (n.620-40del)
c.644-40del (n.644-40del)
c.257-40del (n.257-40del)
7g.128398654G>TCA2684777690IMPDH1c.767-41C>A (n.767-41C>A)
n.750-41C>A
c.875-41C>A (n.875-41C>A)
c.507-41C>A
c.845-41C>A (n.845-41C>A)
c.776-41C>A (n.776-41C>A)
n.464-41C>A
c.640-41C>A
c.617-41C>A (n.617-41C>A)
c.605-41C>A (n.605-41C>A)
c.750-41C>A (n.750-41C>A)
c.545-41C>A (n.545-41C>A)
c.668-41C>A (n.668-41C>A)
c.620-41C>A (n.620-41C>A)
c.644-41C>A (n.644-41C>A)
c.257-41C>A (n.257-41C>A)
 gnomAD v4
7g.128398655G>TCA2684777692IMPDH1c.767-42C>A (n.767-42C>A)
n.750-42C>A
c.875-42C>A (n.875-42C>A)
c.507-42C>A
c.845-42C>A (n.845-42C>A)
c.776-42C>A (n.776-42C>A)
n.464-42C>A
c.640-42C>A
c.617-42C>A (n.617-42C>A)
c.605-42C>A (n.605-42C>A)
c.750-42C>A (n.750-42C>A)
c.545-42C>A (n.545-42C>A)
c.668-42C>A (n.668-42C>A)
c.620-42C>A (n.620-42C>A)
c.644-42C>A (n.644-42C>A)
c.257-42C>A (n.257-42C>A)
 gnomAD v4
7g.128398656G>ACA4471003IMPDH1c.767-43C>T (n.767-43C>T)
n.750-43C>T
c.875-43C>T (n.875-43C>T)
c.507-43C>T
c.845-43C>T (n.845-43C>T)
c.776-43C>T (n.776-43C>T)
n.464-43C>T
c.640-43C>T
c.617-43C>T (n.617-43C>T)
c.605-43C>T (n.605-43C>T)
c.750-43C>T (n.750-43C>T)
c.545-43C>T (n.545-43C>T)
c.668-43C>T (n.668-43C>T)
c.620-43C>T (n.620-43C>T)
c.644-43C>T (n.644-43C>T)
c.257-43C>T (n.257-43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.128398656G>CCA577707370IMPDH1c.767-43C>G (n.767-43C>G)
n.750-43C>G
c.875-43C>G (n.875-43C>G)
c.507-43C>G
c.845-43C>G (n.845-43C>G)
c.776-43C>G (n.776-43C>G)
n.464-43C>G
c.640-43C>G
c.617-43C>G (n.617-43C>G)
c.605-43C>G (n.605-43C>G)
c.750-43C>G (n.750-43C>G)
c.545-43C>G (n.545-43C>G)
c.668-43C>G (n.668-43C>G)
c.620-43C>G (n.620-43C>G)
c.644-43C>G (n.644-43C>G)
c.257-43C>G (n.257-43C>G)
 dbSNP gnomAD v2 gnomAD v4
7g.128398656G=CA1742328684IMPDH1c.767-43C= (n.767-43C=)
n.750-43C=
c.875-43C= (n.875-43C=)
c.507-43C=
c.845-43C= (n.845-43C=)
c.776-43C= (n.776-43C=)
n.464-43C=
c.640-43C=
c.617-43C= (n.617-43C=)
c.605-43C= (n.605-43C=)
c.750-43C= (n.750-43C=)
c.545-43C= (n.545-43C=)
c.668-43C= (n.668-43C=)
c.620-43C= (n.620-43C=)
c.644-43C= (n.644-43C=)
c.257-43C= (n.257-43C=)
7g.128398656G>TCA2684777696IMPDH1c.767-43C>A (n.767-43C>A)
n.750-43C>A
c.875-43C>A (n.875-43C>A)
c.507-43C>A
c.845-43C>A (n.845-43C>A)
c.776-43C>A (n.776-43C>A)
n.464-43C>A
c.640-43C>A
c.617-43C>A (n.617-43C>A)
c.605-43C>A (n.605-43C>A)
c.750-43C>A (n.750-43C>A)
c.545-43C>A (n.545-43C>A)
c.668-43C>A (n.668-43C>A)
c.620-43C>A (n.620-43C>A)
c.644-43C>A (n.644-43C>A)
c.257-43C>A (n.257-43C>A)
 gnomAD v4
7g.128398657A=CA1742328689IMPDH1c.767-44T= (n.767-44T=)
n.750-44T=
c.875-44T= (n.875-44T=)
c.507-44T=
c.845-44T= (n.845-44T=)
c.776-44T= (n.776-44T=)
n.464-44T=
c.640-44T=
c.617-44T= (n.617-44T=)
c.605-44T= (n.605-44T=)
c.750-44T= (n.750-44T=)
c.545-44T= (n.545-44T=)
c.668-44T= (n.668-44T=)
c.620-44T= (n.620-44T=)
c.644-44T= (n.644-44T=)
c.257-44T= (n.257-44T=)
7g.128398657A>GCA1742328690IMPDH1c.767-44T>C (n.767-44T>C)
n.750-44T>C
c.875-44T>C (n.875-44T>C)
c.507-44T>C
c.845-44T>C (n.845-44T>C)
c.776-44T>C (n.776-44T>C)
n.464-44T>C
c.640-44T>C
c.617-44T>C (n.617-44T>C)
c.605-44T>C (n.605-44T>C)
c.750-44T>C (n.750-44T>C)
c.545-44T>C (n.545-44T>C)
c.668-44T>C (n.668-44T>C)
c.620-44T>C (n.620-44T>C)
c.644-44T>C (n.644-44T>C)
c.257-44T>C (n.257-44T>C)
 dbSNP
7g.128398658G>CCA4471004IMPDH1c.767-45C>G (n.767-45C>G)
n.750-45C>G
c.875-45C>G (n.875-45C>G)
c.507-45C>G
c.845-45C>G (n.845-45C>G)
c.776-45C>G (n.776-45C>G)
n.464-45C>G
c.640-45C>G
c.617-45C>G (n.617-45C>G)
c.605-45C>G (n.605-45C>G)
c.750-45C>G (n.750-45C>G)
c.545-45C>G (n.545-45C>G)
c.668-45C>G (n.668-45C>G)
c.620-45C>G (n.620-45C>G)
c.644-45C>G (n.644-45C>G)
c.257-45C>G (n.257-45C>G)
 dbSNP ExAC gnomAD v2
7g.128398658G=CA1742328692IMPDH1c.767-45C= (n.767-45C=)
n.750-45C=
c.875-45C= (n.875-45C=)
c.507-45C=
c.845-45C= (n.845-45C=)
c.776-45C= (n.776-45C=)
n.464-45C=
c.640-45C=
c.617-45C= (n.617-45C=)
c.605-45C= (n.605-45C=)
c.750-45C= (n.750-45C=)
c.545-45C= (n.545-45C=)
c.668-45C= (n.668-45C=)
c.620-45C= (n.620-45C=)
c.644-45C= (n.644-45C=)
c.257-45C= (n.257-45C=)
7g.128398658G>TCA2684777700IMPDH1c.767-45C>A (n.767-45C>A)
n.750-45C>A
c.875-45C>A (n.875-45C>A)
c.507-45C>A
c.845-45C>A (n.845-45C>A)
c.776-45C>A (n.776-45C>A)
n.464-45C>A
c.640-45C>A
c.617-45C>A (n.617-45C>A)
c.605-45C>A (n.605-45C>A)
c.750-45C>A (n.750-45C>A)
c.545-45C>A (n.545-45C>A)
c.668-45C>A (n.668-45C>A)
c.620-45C>A (n.620-45C>A)
c.644-45C>A (n.644-45C>A)
c.257-45C>A (n.257-45C>A)
 gnomAD v4

Number of alleles fetched