Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99428522T>ACA357498617ADH7c.229A>T (p.Ile77Phe)
c.265A>T (p.Ile89Phe)
c.58A>T (p.Ile20Phe)
c.289A>T (p.Ile97Phe)
 gnomAD v4
4g.99428522T>CCA357498618ADH7c.229A>G (p.Ile77Val)
c.265A>G (p.Ile89Val)
c.58A>G (p.Ile20Val)
c.289A>G (p.Ile97Val)
 COSMIC COSMIC
4g.99428522T>GCA357498619ADH7c.229A>C (p.Ile77Leu)
c.265A>C (p.Ile89Leu)
c.58A>C (p.Ile20Leu)
c.289A>C (p.Ile97Leu)
4g.99428523G>ACA440318662ADH7c.228C>T (p.Ser76=)
c.264C>T (p.Ser88=)
c.57C>T (p.Ser19=)
c.288C>T (p.Ser96=)
 dbSNP gnomAD v3 gnomAD v4
4g.99428523G>CCA357498621ADH7c.228C>G (p.Ser76Arg)
c.264C>G (p.Ser88Arg)
c.57C>G (p.Ser19Arg)
c.288C>G (p.Ser96Arg)
4g.99428523G=CA1480005282ADH7c.228C= (p.Ser76=)
c.264C= (p.Ser88=)
c.57C= (p.Ser19=)
c.288C= (p.Ser96=)
4g.99428523G>TCA357498620ADH7c.228C>A (p.Ser76Arg)
c.264C>A (p.Ser88Arg)
c.57C>A (p.Ser19Arg)
c.288C>A (p.Ser96Arg)
4g.99428524C>ACA357498622ADH7c.227G>T (p.Ser76Ile)
c.263G>T (p.Ser88Ile)
c.56G>T (p.Ser19Ile)
c.287G>T (p.Ser96Ile)
4g.99428524C=CA1480005284ADH7c.227G= (p.Ser76=)
c.263G= (p.Ser88=)
c.56G= (p.Ser19=)
c.287G= (p.Ser96=)
4g.99428524C>GCA357498623ADH7c.227G>C (p.Ser76Thr)
c.263G>C (p.Ser88Thr)
c.56G>C (p.Ser19Thr)
c.287G>C (p.Ser96Thr)
4g.99428524C>TCA357498624ADH7c.227G>A (p.Ser76Asn)
c.263G>A (p.Ser88Asn)
c.56G>A (p.Ser19Asn)
c.287G>A (p.Ser96Asn)
 dbSNP gnomAD v4
4g.99428525T>ACA357498625ADH7c.226A>T (p.Ser76Cys)
c.262A>T (p.Ser88Cys)
c.55A>T (p.Ser19Cys)
c.286A>T (p.Ser96Cys)
4g.99428525T>CCA357498626ADH7c.226A>G (p.Ser76Gly)
c.262A>G (p.Ser88Gly)
c.55A>G (p.Ser19Gly)
c.286A>G (p.Ser96Gly)
4g.99428525T>GCA357498627ADH7c.226A>C (p.Ser76Arg)
c.262A>C (p.Ser88Arg)
c.55A>C (p.Ser19Arg)
c.286A>C (p.Ser96Arg)
4g.99428526C>ACA357498629ADH7c.225G>T (p.Glu75Asp)
c.261G>T (p.Glu87Asp)
c.54G>T (p.Glu18Asp)
c.285G>T (p.Glu95Asp)
4g.99428526C>GCA357498628ADH7c.225G>C (p.Glu75Asp)
c.261G>C (p.Glu87Asp)
c.54G>C (p.Glu18Asp)
c.285G>C (p.Glu95Asp)
 gnomAD v4
4g.99428526C>TCA440318681ADH7c.225G>A (p.Glu75=)
c.261G>A (p.Glu87=)
c.54G>A (p.Glu18=)
c.285G>A (p.Glu95=)
 gnomAD v4
4g.99428527T>ACA357498630ADH7c.224A>T (p.Glu75Val)
c.260A>T (p.Glu87Val)
c.53A>T (p.Glu18Val)
c.284A>T (p.Glu95Val)
4g.99428527T>CCA357498631ADH7c.224A>G (p.Glu75Gly)
c.260A>G (p.Glu87Gly)
c.53A>G (p.Glu18Gly)
c.284A>G (p.Glu95Gly)
4g.99428527T>GCA357498632ADH7c.224A>C (p.Glu75Ala)
c.260A>C (p.Glu87Ala)
c.53A>C (p.Glu18Ala)
c.284A>C (p.Glu95Ala)
4g.99428528C>ACA357498633ADH7c.223G>T (p.Glu75Ter)
c.259G>T (p.Glu87Ter)
c.52G>T (p.Glu18Ter)
c.283G>T (p.Glu95Ter)
4g.99428528C>GCA357498634ADH7c.223G>C (p.Glu75Gln)
c.259G>C (p.Glu87Gln)
c.52G>C (p.Glu18Gln)
c.283G>C (p.Glu95Gln)
 gnomAD v4
4g.99428528C>TCA357498635ADH7c.223G>A (p.Glu75Lys)
c.259G>A (p.Glu87Lys)
c.52G>A (p.Glu18Lys)
c.283G>A (p.Glu95Lys)
 gnomAD v4
4g.99428529T>ACA440318696ADH7c.222A>T (p.Val74=)
c.258A>T (p.Val86=)
c.51A>T (p.Val17=)
c.282A>T (p.Val94=)
4g.99428529T>CCA440318698ADH7c.222A>G (p.Val74=)
c.258A>G (p.Val86=)
c.51A>G (p.Val17=)
c.282A>G (p.Val94=)
4g.99428529T>GCA440318701ADH7c.222A>C (p.Val74=)
c.258A>C (p.Val86=)
c.51A>C (p.Val17=)
c.282A>C (p.Val94=)
 gnomAD v4
4g.99428530A>CCA357498638ADH7c.221T>G (p.Val74Gly)
c.257T>G (p.Val86Gly)
c.50T>G (p.Val17Gly)
c.281T>G (p.Val94Gly)
4g.99428530A>GCA357498636ADH7c.221T>C (p.Val74Ala)
c.257T>C (p.Val86Ala)
c.50T>C (p.Val17Ala)
c.281T>C (p.Val94Ala)
4g.99428530A>TCA357498637ADH7c.221T>A (p.Val74Glu)
c.257T>A (p.Val86Glu)
c.50T>A (p.Val17Glu)
c.281T>A (p.Val94Glu)
 ClinVar
4g.99428531C>ACA357498639ADH7c.220G>T (p.Val74Leu)
c.256G>T (p.Val86Leu)
c.49G>T (p.Val17Leu)
c.280G>T (p.Val94Leu)
4g.99428531C>GCA357498640ADH7c.220G>C (p.Val74Leu)
c.256G>C (p.Val86Leu)
c.49G>C (p.Val17Leu)
c.280G>C (p.Val94Leu)
4g.99428531C>TCA357498641ADH7c.220G>A (p.Val74Ile)
c.256G>A (p.Val86Ile)
c.49G>A (p.Val17Ile)
c.280G>A (p.Val94Ile)
 gnomAD v4
4g.99428532A>CCA357498642ADH7c.219T>G (p.Ile73Met)
c.255T>G (p.Ile85Met)
c.48T>G (p.Ile16Met)
c.279T>G (p.Ile93Met)
4g.99428532A>GCA440318714ADH7c.219T>C (p.Ile73=)
c.255T>C (p.Ile85=)
c.48T>C (p.Ile16=)
c.279T>C (p.Ile93=)
4g.99428532A>TCA440318717ADH7c.219T>A (p.Ile73=)
c.255T>A (p.Ile85=)
c.48T>A (p.Ile16=)
c.279T>A (p.Ile93=)
4g.99428533A=CA1480005287ADH7c.218T= (p.Ile73=)
c.254T= (p.Ile85=)
c.47T= (p.Ile16=)
c.278T= (p.Ile93=)
4g.99428533A>CCA357498643ADH7c.218T>G (p.Ile73Ser)
c.254T>G (p.Ile85Ser)
c.47T>G (p.Ile16Ser)
c.278T>G (p.Ile93Ser)
4g.99428533A>GCA3020903ADH7c.218T>C (p.Ile73Thr)
c.254T>C (p.Ile85Thr)
c.47T>C (p.Ile16Thr)
c.278T>C (p.Ile93Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428533A>TCA357498644ADH7c.218T>A (p.Ile73Asn)
c.254T>A (p.Ile85Asn)
c.47T>A (p.Ile16Asn)
c.278T>A (p.Ile93Asn)
4g.99428534T>ACA357498645ADH7c.217A>T (p.Ile73Phe)
c.253A>T (p.Ile85Phe)
c.46A>T (p.Ile16Phe)
c.277A>T (p.Ile93Phe)
4g.99428534T>CCA357498646ADH7c.217A>G (p.Ile73Val)
c.253A>G (p.Ile85Val)
c.46A>G (p.Ile16Val)
c.277A>G (p.Ile93Val)
4g.99428534T>GCA357498647ADH7c.217A>C (p.Ile73Leu)
c.253A>C (p.Ile85Leu)
c.46A>C (p.Ile16Leu)
c.277A>C (p.Ile93Leu)
4g.99428535C>ACA440318735ADH7c.216G>T (p.Gly72=)
c.252G>T (p.Gly84=)
c.45G>T (p.Gly15=)
c.276G>T (p.Gly92=)
4g.99428535C>GCA440318733ADH7c.216G>C (p.Gly72=)
c.252G>C (p.Gly84=)
c.45G>C (p.Gly15=)
c.276G>C (p.Gly92=)
 gnomAD v4
4g.99428535C>TCA440318730ADH7c.216G>A (p.Gly72=)
c.252G>A (p.Gly84=)
c.45G>A (p.Gly15=)
c.276G>A (p.Gly92=)
4g.99428536C>ACA357498648ADH7c.215G>T (p.Gly72Val)
c.251G>T (p.Gly84Val)
c.44G>T (p.Gly15Val)
c.275G>T (p.Gly92Val)
4g.99428536C>GCA357498649ADH7c.215G>C (p.Gly72Ala)
c.251G>C (p.Gly84Ala)
c.44G>C (p.Gly15Ala)
c.275G>C (p.Gly92Ala)
4g.99428536C>TCA357498650ADH7c.215G>A (p.Gly72Glu)
c.251G>A (p.Gly84Glu)
c.44G>A (p.Gly15Glu)
c.275G>A (p.Gly92Glu)
4g.99428537C>ACA357498653ADH7c.214G>T (p.Gly72Trp)
c.250G>T (p.Gly84Trp)
c.43G>T (p.Gly15Trp)
c.274G>T (p.Gly92Trp)
4g.99428537C=CA1480005289ADH7c.214G= (p.Gly72=)
c.250G= (p.Gly84=)
c.43G= (p.Gly15=)
c.274G= (p.Gly92=)
4g.99428537C>GCA357498651ADH7c.214G>C (p.Gly72Arg)
c.250G>C (p.Gly84Arg)
c.43G>C (p.Gly15Arg)
c.274G>C (p.Gly92Arg)
4g.99428537C>TCA357498652ADH7c.214G>A (p.Gly72Arg)
c.250G>A (p.Gly84Arg)
c.43G>A (p.Gly15Arg)
c.274G>A (p.Gly92Arg)
4g.99428538A=CA1480005293ADH7c.213T= (p.Thr71=)
c.249T= (p.Thr83=)
c.42T= (p.Thr14=)
c.273T= (p.Thr91=)
4g.99428538A>CCA440318747ADH7c.213T>G (p.Thr71=)
c.249T>G (p.Thr83=)
c.42T>G (p.Thr14=)
c.273T>G (p.Thr91=)
4g.99428538A>GCA440318749ADH7c.213T>C (p.Thr71=)
c.249T>C (p.Thr83=)
c.42T>C (p.Thr14=)
c.273T>C (p.Thr91=)
4g.99428538A>TCA102654174ADH7c.213T>A (p.Thr71=)
c.249T>A (p.Thr83=)
c.42T>A (p.Thr14=)
c.273T>A (p.Thr91=)
 dbSNP gnomAD v3 gnomAD v4
4g.99428538dupCA1065920908ADH7c.213dup (p.Gly72TrpfsTer17)
c.249dup (p.Gly84TrpfsTer17)
c.42dup (p.Gly15TrpfsTer17)
c.273dup (p.Gly92TrpfsTer17)
 dbSNP gnomAD v3 gnomAD v4
4g.99428539G>ACA357498654ADH7c.212C>T (p.Thr71Ile)
c.248C>T (p.Thr83Ile)
c.41C>T (p.Thr14Ile)
c.272C>T (p.Thr91Ile)
 gnomAD v4
4g.99428539G>CCA357498655ADH7c.212C>G (p.Thr71Ser)
c.248C>G (p.Thr83Ser)
c.41C>G (p.Thr14Ser)
c.272C>G (p.Thr91Ser)
 gnomAD v4
4g.99428539G>TCA357498656ADH7c.212C>A (p.Thr71Asn)
c.248C>A (p.Thr83Asn)
c.41C>A (p.Thr14Asn)
c.272C>A (p.Thr91Asn)
4g.99428540T>ACA357498657ADH7c.211A>T (p.Thr71Ser)
c.247A>T (p.Thr83Ser)
c.40A>T (p.Thr14Ser)
c.271A>T (p.Thr91Ser)
4g.99428540T>CCA357498658ADH7c.211A>G (p.Thr71Ala)
c.247A>G (p.Thr83Ala)
c.40A>G (p.Thr14Ala)
c.271A>G (p.Thr91Ala)
4g.99428540T>GCA357498659ADH7c.211A>C (p.Thr71Pro)
c.247A>C (p.Thr83Pro)
c.40A>C (p.Thr14Pro)
c.271A>C (p.Thr91Pro)
4g.99428541T>ACA440318765ADH7c.210A>T (p.Ala70=)
c.246A>T (p.Ala82=)
c.39A>T (p.Ala13=)
c.270A>T (p.Ala90=)
 dbSNP gnomAD v4
4g.99428541T>CCA440318769ADH7c.210A>G (p.Ala70=)
c.246A>G (p.Ala82=)
c.39A>G (p.Ala13=)
c.270A>G (p.Ala90=)
4g.99428541T>GCA440318767ADH7c.210A>C (p.Ala70=)
c.246A>C (p.Ala82=)
c.39A>C (p.Ala13=)
c.270A>C (p.Ala90=)
4g.99428541T=CA1480005298ADH7c.210A= (p.Ala70=)
c.246A= (p.Ala82=)
c.39A= (p.Ala13=)
c.270A= (p.Ala90=)
4g.99428542G>ACA357498662ADH7c.209C>T (p.Ala70Val)
c.245C>T (p.Ala82Val)
c.38C>T (p.Ala13Val)
c.269C>T (p.Ala90Val)
4g.99428542G>CCA357498660ADH7c.209C>G (p.Ala70Gly)
c.245C>G (p.Ala82Gly)
c.38C>G (p.Ala13Gly)
c.269C>G (p.Ala90Gly)
4g.99428542G>TCA357498661ADH7c.209C>A (p.Ala70Glu)
c.245C>A (p.Ala82Glu)
c.38C>A (p.Ala13Glu)
c.269C>A (p.Ala90Glu)
4g.99428543C>ACA357498663ADH7c.208G>T (p.Ala70Ser)
c.244G>T (p.Ala82Ser)
c.37G>T (p.Ala13Ser)
c.268G>T (p.Ala90Ser)
4g.99428543C>GCA357498664ADH7c.208G>C (p.Ala70Pro)
c.244G>C (p.Ala82Pro)
c.37G>C (p.Ala13Pro)
c.268G>C (p.Ala90Pro)
4g.99428543C>TCA357498665ADH7c.208G>A (p.Ala70Thr)
c.244G>A (p.Ala82Thr)
c.37G>A (p.Ala13Thr)
c.268G>A (p.Ala90Thr)
4g.99428544C>ACA357498666ADH7c.207G>T (p.Glu69Asp)
c.243G>T (p.Glu81Asp)
c.36G>T (p.Glu12Asp)
c.267G>T (p.Glu89Asp)
4g.99428544C>GCA357498667ADH7c.207G>C (p.Glu69Asp)
c.243G>C (p.Glu81Asp)
c.36G>C (p.Glu12Asp)
c.267G>C (p.Glu89Asp)
 ClinVar
4g.99428544C>TCA440318785ADH7c.207G>A (p.Glu69=)
c.243G>A (p.Glu81=)
c.36G>A (p.Glu12=)
c.267G>A (p.Glu89=)
 gnomAD v4 COSMIC COSMIC
4g.99428545T>ACA357498668ADH7c.206A>T (p.Glu69Val)
c.242A>T (p.Glu81Val)
c.35A>T (p.Glu12Val)
c.266A>T (p.Glu89Val)
4g.99428545T>CCA357498670ADH7c.206A>G (p.Glu69Gly)
c.242A>G (p.Glu81Gly)
c.35A>G (p.Glu12Gly)
c.266A>G (p.Glu89Gly)
4g.99428545T>GCA357498669ADH7c.206A>C (p.Glu69Ala)
c.242A>C (p.Glu81Ala)
c.35A>C (p.Glu12Ala)
c.266A>C (p.Glu89Ala)
 dbSNP
4g.99428545T=CA1480005300ADH7c.206A= (p.Glu69=)
c.242A= (p.Glu81=)
c.35A= (p.Glu12=)
c.266A= (p.Glu89=)
4g.99428546C>ACA357498671ADH7c.205G>T (p.Glu69Ter)
c.241G>T (p.Glu81Ter)
c.34G>T (p.Glu12Ter)
c.265G>T (p.Glu89Ter)
4g.99428546C>GCA357498672ADH7c.205G>C (p.Glu69Gln)
c.241G>C (p.Glu81Gln)
c.34G>C (p.Glu12Gln)
c.265G>C (p.Glu89Gln)
4g.99428546C>TCA357498673ADH7c.205G>A (p.Glu69Lys)
c.241G>A (p.Glu81Lys)
c.34G>A (p.Glu12Lys)
c.265G>A (p.Glu89Lys)
4g.99428547A>CCA357498674ADH7c.204T>G (p.His68Gln)
c.240T>G (p.His80Gln)
c.33T>G (p.His11Gln)
c.264T>G (p.His88Gln)
4g.99428547A>GCA440318801ADH7c.204T>C (p.His68=)
c.240T>C (p.His80=)
c.33T>C (p.His11=)
c.264T>C (p.His88=)
 gnomAD v4
4g.99428547A>TCA357498675ADH7c.204T>A (p.His68Gln)
c.240T>A (p.His80Gln)
c.33T>A (p.His11Gln)
c.264T>A (p.His88Gln)
4g.99428548T>ACA357498676ADH7c.203A>T (p.His68Leu)
c.239A>T (p.His80Leu)
c.32A>T (p.His11Leu)
c.263A>T (p.His88Leu)
4g.99428548T>CCA357498677ADH7c.203A>G (p.His68Arg)
c.239A>G (p.His80Arg)
c.32A>G (p.His11Arg)
c.263A>G (p.His88Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.99428548T>GCA357498678ADH7c.203A>C (p.His68Pro)
c.239A>C (p.His80Pro)
c.32A>C (p.His11Pro)
c.263A>C (p.His88Pro)
4g.99428548T=CA1480005303ADH7c.203A= (p.His68=)
c.239A= (p.His80=)
c.32A= (p.His11=)
c.263A= (p.His88=)
4g.99428549G>ACA357498679ADH7c.202C>T (p.His68Tyr)
c.238C>T (p.His80Tyr)
c.31C>T (p.His11Tyr)
c.262C>T (p.His88Tyr)
 dbSNP gnomAD v4
4g.99428549G>CCA357498680ADH7c.202C>G (p.His68Asp)
c.238C>G (p.His80Asp)
c.31C>G (p.His11Asp)
c.262C>G (p.His88Asp)
4g.99428549G=CA1480005304ADH7c.202C= (p.His68=)
c.238C= (p.His80=)
c.31C= (p.His11=)
c.262C= (p.His88=)
4g.99428549G>TCA357498681ADH7c.202C>A (p.His68Asn)
c.238C>A (p.His80Asn)
c.31C>A (p.His11Asn)
c.262C>A (p.His88Asn)
 gnomAD v4
4g.99428550T>ACA440318823ADH7c.201A>T (p.Gly67=)
c.237A>T (p.Gly79=)
c.30A>T (p.Gly10=)
c.261A>T (p.Gly87=)
4g.99428550T>CCA440318820ADH7c.201A>G (p.Gly67=)
c.237A>G (p.Gly79=)
c.30A>G (p.Gly10=)
c.261A>G (p.Gly87=)
 gnomAD v4
4g.99428550T>GCA440318818ADH7c.201A>C (p.Gly67=)
c.237A>C (p.Gly79=)
c.30A>C (p.Gly10=)
c.261A>C (p.Gly87=)
 gnomAD v4
4g.99428551C>ACA357498682ADH7c.200G>T (p.Gly67Val)
c.236G>T (p.Gly79Val)
c.29G>T (p.Gly10Val)
c.260G>T (p.Gly87Val)
4g.99428551C=CA1480005306ADH7c.200G= (p.Gly67=)
c.236G= (p.Gly79=)
c.29G= (p.Gly10=)
c.260G= (p.Gly87=)
4g.99428551C>GCA357498684ADH7c.200G>C (p.Gly67Ala)
c.236G>C (p.Gly79Ala)
c.29G>C (p.Gly10Ala)
c.260G>C (p.Gly87Ala)
4g.99428551C>TCA357498683ADH7c.200G>A (p.Gly67Glu)
c.236G>A (p.Gly79Glu)
c.29G>A (p.Gly10Glu)
c.260G>A (p.Gly87Glu)
 dbSNP gnomAD v2 gnomAD v4
4g.99428552C>ACA357498685ADH7c.199G>T (p.Gly67Ter)
c.235G>T (p.Gly79Ter)
c.28G>T (p.Gly10Ter)
c.259G>T (p.Gly87Ter)
4g.99428552C=CA1480005308ADH7c.199G= (p.Gly67=)
c.235G= (p.Gly79=)
c.28G= (p.Gly10=)
c.259G= (p.Gly87=)
4g.99428552C>GCA357498686ADH7c.199G>C (p.Gly67Arg)
c.235G>C (p.Gly79Arg)
c.28G>C (p.Gly10Arg)
c.259G>C (p.Gly87Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428552C>TCA357498687ADH7c.199G>A (p.Gly67Arg)
c.235G>A (p.Gly79Arg)
c.28G>A (p.Gly10Arg)
c.259G>A (p.Gly87Arg)
4g.99428553C>ACA440318837ADH7c.198G>T (p.Val66=)
c.234G>T (p.Val78=)
c.27G>T (p.Val9=)
c.258G>T (p.Val86=)
4g.99428553C>GCA440318838ADH7c.198G>C (p.Val66=)
c.234G>C (p.Val78=)
c.27G>C (p.Val9=)
c.258G>C (p.Val86=)
4g.99428553C>TCA440318840ADH7c.198G>A (p.Val66=)
c.234G>A (p.Val78=)
c.27G>A (p.Val9=)
c.258G>A (p.Val86=)
4g.99428554A=CA1480005311ADH7c.197T= (p.Val66=)
c.233T= (p.Val78=)
c.26T= (p.Val9=)
c.257T= (p.Val86=)
4g.99428554A>CCA357498688ADH7c.197T>G (p.Val66Gly)
c.233T>G (p.Val78Gly)
c.26T>G (p.Val9Gly)
c.257T>G (p.Val86Gly)
 gnomAD v4
4g.99428554A>GCA357498689ADH7c.197T>C (p.Val66Ala)
c.233T>C (p.Val78Ala)
c.26T>C (p.Val9Ala)
c.257T>C (p.Val86Ala)
4g.99428554A>TCA357498690ADH7c.197T>A (p.Val66Glu)
c.233T>A (p.Val78Glu)
c.26T>A (p.Val9Glu)
c.257T>A (p.Val86Glu)
 dbSNP gnomAD v2
4g.99428555C>ACA357498692ADH7c.196G>T (p.Val66Leu)
c.232G>T (p.Val78Leu)
c.25G>T (p.Val9Leu)
c.256G>T (p.Val86Leu)
4g.99428555C=CA1480005313ADH7c.196G= (p.Val66=)
c.232G= (p.Val78=)
c.25G= (p.Val9=)
c.256G= (p.Val86=)
4g.99428555C>GCA357498691ADH7c.196G>C (p.Val66Leu)
c.232G>C (p.Val78Leu)
c.25G>C (p.Val9Leu)
c.256G>C (p.Val86Leu)
4g.99428555C>TCA3020904ADH7c.196G>A (p.Val66Met)
c.232G>A (p.Val78Met)
c.25G>A (p.Val9Met)
c.256G>A (p.Val86Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428556A=CA1480005319ADH7c.195T= (p.Ile65=)
c.231T= (p.Ile77=)
c.24T= (p.Ile8=)
c.255T= (p.Ile85=)
4g.99428556A>CCA357498693ADH7c.195T>G (p.Ile65Met)
c.231T>G (p.Ile77Met)
c.24T>G (p.Ile8Met)
c.255T>G (p.Ile85Met)
4g.99428556A>GCA440318849ADH7c.195T>C (p.Ile65=)
c.231T>C (p.Ile77=)
c.24T>C (p.Ile8=)
c.255T>C (p.Ile85=)
4g.99428556A>TCA440318851ADH7c.195T>A (p.Ile65=)
c.231T>A (p.Ile77=)
c.24T>A (p.Ile8=)
c.255T>A (p.Ile85=)
 dbSNP
4g.99428556_99428563dupCA553108949ADH7c.188_195dup (p.Val66GlnfsTer2)
c.224_231dup (p.Val78GlnfsTer2)
c.17_24dup (p.Val9GlnfsTer2)
c.248_255dup (p.Val86GlnfsTer2)
 dbSNP gnomAD v2 gnomAD v4
4g.99428557A=CA1480005322ADH7c.194T= (p.Ile65=)
c.230T= (p.Ile77=)
c.23T= (p.Ile8=)
c.254T= (p.Ile85=)
4g.99428557A>CCA357498694ADH7c.194T>G (p.Ile65Ser)
c.230T>G (p.Ile77Ser)
c.23T>G (p.Ile8Ser)
c.254T>G (p.Ile85Ser)
4g.99428557A>GCA3020905ADH7c.194T>C (p.Ile65Thr)
c.230T>C (p.Ile77Thr)
c.23T>C (p.Ile8Thr)
c.254T>C (p.Ile85Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428557A>TCA357498695ADH7c.194T>A (p.Ile65Asn)
c.230T>A (p.Ile77Asn)
c.23T>A (p.Ile8Asn)
c.254T>A (p.Ile85Asn)
4g.99428558T>ACA357498696ADH7c.193A>T (p.Ile65Phe)
c.229A>T (p.Ile77Phe)
c.22A>T (p.Ile8Phe)
c.253A>T (p.Ile85Phe)
4g.99428558T>CCA102654206ADH7c.193A>G (p.Ile65Val)
c.229A>G (p.Ile77Val)
c.22A>G (p.Ile8Val)
c.253A>G (p.Ile85Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99428558T>GCA357498697ADH7c.193A>C (p.Ile65Leu)
c.229A>C (p.Ile77Leu)
c.22A>C (p.Ile8Leu)
c.253A>C (p.Ile85Leu)
4g.99428558T=CA1480005325ADH7c.193A= (p.Ile65=)
c.229A= (p.Ile77=)
c.22A= (p.Ile8=)
c.253A= (p.Ile85=)
4g.99428559C>ACA440318861ADH7c.192G>T (p.Val64=)
c.228G>T (p.Val76=)
c.21G>T (p.Val7=)
c.252G>T (p.Val84=)
4g.99428559C>GCA440318863ADH7c.192G>C (p.Val64=)
c.228G>C (p.Val76=)
c.21G>C (p.Val7=)
c.252G>C (p.Val84=)
4g.99428559C>TCA440318865ADH7c.192G>A (p.Val64=)
c.228G>A (p.Val76=)
c.21G>A (p.Val7=)
c.252G>A (p.Val84=)
 gnomAD v4
4g.99428560A=CA1480005328ADH7c.191T= (p.Val64=)
c.227T= (p.Val76=)
c.20T= (p.Val7=)
c.251T= (p.Val84=)
4g.99428560A>CCA357498698ADH7c.191T>G (p.Val64Gly)
c.227T>G (p.Val76Gly)
c.20T>G (p.Val7Gly)
c.251T>G (p.Val84Gly)
4g.99428560A>GCA3020906ADH7c.191T>C (p.Val64Ala)
c.227T>C (p.Val76Ala)
c.20T>C (p.Val7Ala)
c.251T>C (p.Val84Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428560A>TCA357498699ADH7c.191T>A (p.Val64Glu)
c.227T>A (p.Val76Glu)
c.20T>A (p.Val7Glu)
c.251T>A (p.Val84Glu)
4g.99428561C>ACA357498700ADH7c.190G>T (p.Val64Leu)
c.226G>T (p.Val76Leu)
c.19G>T (p.Val7Leu)
c.250G>T (p.Val84Leu)
4g.99428561C>GCA357498701ADH7c.190G>C (p.Val64Leu)
c.226G>C (p.Val76Leu)
c.19G>C (p.Val7Leu)
c.250G>C (p.Val84Leu)
 gnomAD v4
4g.99428561C>TCA357498702ADH7c.190G>A (p.Val64Met)
c.226G>A (p.Val76Met)
c.19G>A (p.Val7Met)
c.250G>A (p.Val84Met)
4g.99428562T>ACA440318878ADH7c.189A>T (p.Pro63=)
c.225A>T (p.Pro75=)
c.18A>T (p.Pro6=)
c.249A>T (p.Pro83=)
4g.99428562T>CCA440318879ADH7c.189A>G (p.Pro63=)
c.225A>G (p.Pro75=)
c.18A>G (p.Pro6=)
c.249A>G (p.Pro83=)
 gnomAD v4
4g.99428562T>GCA440318882ADH7c.189A>C (p.Pro63=)
c.225A>C (p.Pro75=)
c.18A>C (p.Pro6=)
c.249A>C (p.Pro83=)
4g.99428563G>ACA357498703ADH7c.188C>T (p.Pro63Leu)
c.224C>T (p.Pro75Leu)
c.17C>T (p.Pro6Leu)
c.248C>T (p.Pro83Leu)
4g.99428563G>CCA357498704ADH7c.188C>G (p.Pro63Arg)
c.224C>G (p.Pro75Arg)
c.17C>G (p.Pro6Arg)
c.248C>G (p.Pro83Arg)
4g.99428563G>TCA357498705ADH7c.188C>A (p.Pro63Gln)
c.224C>A (p.Pro75Gln)
c.17C>A (p.Pro6Gln)
c.248C>A (p.Pro83Gln)
 COSMIC COSMIC
4g.99428564dupCA2535982751ADH7c.188dup (p.Val64SerfsTer6)
c.224dup (p.Val76SerfsTer6)
c.17dup (p.Val7SerfsTer6)
c.248dup (p.Val84SerfsTer6)
4g.99428564G>ACA357498706ADH7c.187C>T (p.Pro63Ser)
c.223C>T (p.Pro75Ser)
c.16C>T (p.Pro6Ser)
c.247C>T (p.Pro83Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.99428564G>CCA357498707ADH7c.187C>G (p.Pro63Ala)
c.223C>G (p.Pro75Ala)
c.16C>G (p.Pro6Ala)
c.247C>G (p.Pro83Ala)
4g.99428564G=CA1480005332ADH7c.187C= (p.Pro63=)
c.223C= (p.Pro75=)
c.16C= (p.Pro6=)
c.247C= (p.Pro83=)
4g.99428564G>TCA357498708ADH7c.187C>A (p.Pro63Thr)
c.223C>A (p.Pro75Thr)
c.16C>A (p.Pro6Thr)
c.247C>A (p.Pro83Thr)
4g.99428565A=CA1480005335ADH7c.186T= (p.Phe62=)
c.222T= (p.Phe74=)
c.15T= (p.Phe5=)
c.246T= (p.Phe82=)
4g.99428565A>CCA357498709ADH7c.186T>G (p.Phe62Leu)
c.222T>G (p.Phe74Leu)
c.15T>G (p.Phe5Leu)
c.246T>G (p.Phe82Leu)
4g.99428565A>GCA3020907ADH7c.186T>C (p.Phe62=)
c.222T>C (p.Phe74=)
c.15T>C (p.Phe5=)
c.246T>C (p.Phe82=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428565A>TCA357498710ADH7c.186T>A (p.Phe62Leu)
c.222T>A (p.Phe74Leu)
c.15T>A (p.Phe5Leu)
c.246T>A (p.Phe82Leu)
4g.99428566A>CCA357498711ADH7c.185T>G (p.Phe62Cys)
c.221T>G (p.Phe74Cys)
c.14T>G (p.Phe5Cys)
c.245T>G (p.Phe82Cys)
4g.99428566A>GCA357498713ADH7c.185T>C (p.Phe62Ser)
c.221T>C (p.Phe74Ser)
c.14T>C (p.Phe5Ser)
c.245T>C (p.Phe82Ser)
4g.99428566A>TCA357498712ADH7c.185T>A (p.Phe62Tyr)
c.221T>A (p.Phe74Tyr)
c.14T>A (p.Phe5Tyr)
c.245T>A (p.Phe82Tyr)
4g.99428567A=CA1480005337ADH7c.184T= (p.Phe62=)
c.220T= (p.Phe74=)
c.13T= (p.Phe5=)
c.244T= (p.Phe82=)
4g.99428567A>CCA357498714ADH7c.184T>G (p.Phe62Val)
c.220T>G (p.Phe74Val)
c.13T>G (p.Phe5Val)
c.244T>G (p.Phe82Val)
4g.99428567A>GCA357498715ADH7c.184T>C (p.Phe62Leu)
c.220T>C (p.Phe74Leu)
c.13T>C (p.Phe5Leu)
c.244T>C (p.Phe82Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.99428567A>TCA357498716ADH7c.184T>A (p.Phe62Ile)
c.220T>A (p.Phe74Ile)
c.13T>A (p.Phe5Ile)
c.244T>A (p.Phe82Ile)
4g.99428567_99428568insTCA2512927327ADH7c.183_184insA (p.Phe62IlefsTer8)
c.219_220insA (p.Phe74IlefsTer8)
c.12_13insA (p.Phe5IlefsTer8)
c.243_244insA (p.Phe82IlefsTer8)
4g.99428568C>ACA357498717ADH7c.183G>T (p.Lys61Asn)
c.219G>T (p.Lys73Asn)
c.12G>T (p.Lys4Asn)
c.243G>T (p.Lys81Asn)
4g.99428568C>GCA357498718ADH7c.183G>C (p.Lys61Asn)
c.219G>C (p.Lys73Asn)
c.12G>C (p.Lys4Asn)
c.243G>C (p.Lys81Asn)
4g.99428568C>TCA440318908ADH7c.183G>A (p.Lys61=)
c.219G>A (p.Lys73=)
c.12G>A (p.Lys4=)
c.243G>A (p.Lys81=)
4g.99428569T>ACA357498719ADH7c.182A>T (p.Lys61Met)
c.218A>T (p.Lys73Met)
c.11A>T (p.Lys4Met)
c.242A>T (p.Lys81Met)
 COSMIC COSMIC
4g.99428569T>CCA357498720ADH7c.182A>G (p.Lys61Arg)
c.218A>G (p.Lys73Arg)
c.11A>G (p.Lys4Arg)
c.242A>G (p.Lys81Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.99428569T>GCA357498721ADH7c.182A>C (p.Lys61Thr)
c.218A>C (p.Lys73Thr)
c.11A>C (p.Lys4Thr)
c.242A>C (p.Lys81Thr)
 COSMIC COSMIC
4g.99428569T=CA1480005340ADH7c.182A= (p.Lys61=)
c.218A= (p.Lys73=)
c.11A= (p.Lys4=)
c.242A= (p.Lys81=)
4g.99428569_99428570insACGCA2565805695ADH7c.181_182insCGT (p.Lys61ThrfsTer2)
c.217_218insCGT (p.Lys73ThrfsTer2)
c.10_11insCGT (p.Lys4ThrfsTer2)
c.241_242insCGT (p.Lys81ThrfsTer2)
4g.99428570T>ACA357498722ADH7c.181A>T (p.Lys61Ter)
c.217A>T (p.Lys73Ter)
c.10A>T (p.Lys4Ter)
c.241A>T (p.Lys81Ter)
4g.99428570T>CCA357498723ADH7c.181A>G (p.Lys61Glu)
c.217A>G (p.Lys73Glu)
c.10A>G (p.Lys4Glu)
c.241A>G (p.Lys81Glu)
4g.99428570T>GCA357498724ADH7c.181A>C (p.Lys61Gln)
c.217A>C (p.Lys73Gln)
c.10A>C (p.Lys4Gln)
c.241A>C (p.Lys81Gln)
4g.99428570_99428571insCACA2555494260ADH7c.180_181insTG (p.Lys61Ter)
c.216_217insTG (p.Lys73Ter)
c.9_10insTG (p.Lys4Ter)
c.240_241insTG (p.Lys81Ter)
4g.99428571G>ACA440318938ADH7c.180C>T (p.Ser60=)
c.216C>T (p.Ser72=)
c.9C>T (p.Ser3=)
c.240C>T (p.Ser80=)
4g.99428571G>CCA440318936ADH7c.180C>G (p.Ser60=)
c.216C>G (p.Ser72=)
c.9C>G (p.Ser3=)
c.240C>G (p.Ser80=)
 gnomAD v4
4g.99428571G=CA1480005344ADH7c.180C= (p.Ser60=)
c.216C= (p.Ser72=)
c.9C= (p.Ser3=)
c.240C= (p.Ser80=)
4g.99428571G>TCA3020908ADH7c.180C>A (p.Ser60=)
c.216C>A (p.Ser72=)
c.9C>A (p.Ser3=)
c.240C>A (p.Ser80=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428572G>ACA357498727ADH7c.179C>T (p.Ser60Phe)
c.215C>T (p.Ser72Phe)
c.8C>T (p.Ser3Phe)
c.239C>T (p.Ser80Phe)
 COSMIC COSMIC
4g.99428572G>CCA357498726ADH7c.179C>G (p.Ser60Cys)
c.215C>G (p.Ser72Cys)
c.8C>G (p.Ser3Cys)
c.239C>G (p.Ser80Cys)
 gnomAD v4
4g.99428572G>TCA357498725ADH7c.179C>A (p.Ser60Tyr)
c.215C>A (p.Ser72Tyr)
c.8C>A (p.Ser3Tyr)
c.239C>A (p.Ser80Tyr)
4g.99428573A=CA1480005349ADH7c.178T= (p.Ser60=)
c.214T= (p.Ser72=)
c.7T= (p.Ser3=)
c.238T= (p.Ser80=)
4g.99428573A>CCA357498728ADH7c.178T>G (p.Ser60Ala)
c.214T>G (p.Ser72Ala)
c.7T>G (p.Ser3Ala)
c.238T>G (p.Ser80Ala)
4g.99428573A>GCA357498729ADH7c.178T>C (p.Ser60Pro)
c.214T>C (p.Ser72Pro)
c.7T>C (p.Ser3Pro)
c.238T>C (p.Ser80Pro)
4g.99428573A>TCA3020909ADH7c.178T>A (p.Ser60Thr)
c.214T>A (p.Ser72Thr)
c.7T>A (p.Ser3Thr)
c.238T>A (p.Ser80Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428574C>ACA440318952ADH7c.177G>T (p.Val59=)
c.213G>T (p.Val71=)
c.6G>T (p.Val2=)
c.237G>T (p.Val79=)
4g.99428574C>GCA440318958ADH7c.177G>C (p.Val59=)
c.213G>C (p.Val71=)
c.6G>C (p.Val2=)
c.237G>C (p.Val79=)
4g.99428574C>TCA440318961ADH7c.177G>A (p.Val59=)
c.213G>A (p.Val71=)
c.6G>A (p.Val2=)
c.237G>A (p.Val79=)
 gnomAD v4
4g.99428575A>CCA357498730ADH7c.176T>G (p.Val59Gly)
c.212T>G (p.Val71Gly)
c.5T>G (p.Val2Gly)
c.236T>G (p.Val79Gly)
4g.99428575A>GCA357498731ADH7c.176T>C (p.Val59Ala)
c.212T>C (p.Val71Ala)
c.5T>C (p.Val2Ala)
c.236T>C (p.Val79Ala)
4g.99428575A>TCA357498732ADH7c.176T>A (p.Val59Glu)
c.212T>A (p.Val71Glu)
c.5T>A (p.Val2Glu)
c.236T>A (p.Val79Glu)
4g.99428576C>ACA357498733ADH7c.175G>T (p.Val59Leu)
c.211G>T (p.Val71Leu)
c.4G>T (p.Val2Leu)
c.235G>T (p.Val79Leu)
 gnomAD v4
4g.99428576C>GCA357498734ADH7c.175G>C (p.Val59Leu)
c.211G>C (p.Val71Leu)
c.4G>C (p.Val2Leu)
c.235G>C (p.Val79Leu)
 COSMIC COSMIC
4g.99428576C>TCA357498735ADH7c.175G>A (p.Val59Met)
c.211G>A (p.Val71Met)
c.4G>A (p.Val2Met)
c.235G>A (p.Val79Met)
4g.99428576_99428577delCA2671525486ADH7c.174_175del (p.Met58IlefsTer11)
c.210_211del (p.Met70IlefsTer11)
c.3_4del (p.Met1IlefsTer11)
c.234_235del (p.Met78IlefsTer11)
 gnomAD v4
4g.99428577C>ACA357498736ADH7c.174G>T (p.Met58Ile)
c.210G>T (p.Met70Ile)
c.3G>T (p.Met1Ile)
c.234G>T (p.Met78Ile)
4g.99428577C=CA1480005354ADH7c.174G= (p.Met58=)
c.210G= (p.Met70=)
c.3G= (p.Met1=)
c.234G= (p.Met78=)
4g.99428577C>GCA357498737ADH7c.174G>C (p.Met58Ile)
c.210G>C (p.Met70Ile)
c.3G>C (p.Met1Ile)
c.234G>C (p.Met78Ile)
4g.99428577C>TCA3020910ADH7c.174G>A (p.Met58Ile)
c.210G>A (p.Met70Ile)
c.3G>A (p.Met1Ile)
c.234G>A (p.Met78Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428579_99428580insGTGATAAAAGGAACAATGGTGTCCAAGTTTCCAGTGATTGTGGGACATGAGGCAACTGGGATTGTAGAGAGCATCA2762806366ADH7c.174_175insCTCTCTACAATCCCAGTTGCCTCATGTCCCACAATCACTGGAAACTTGGACACCATTGTTCCTTTTATCACATG (p.Val59LeufsTer31)
c.210_211insCTCTCTACAATCCCAGTTGCCTCATGTCCCACAATCACTGGAAACTTGGACACCATTGTTCCTTTTATCACATG (p.Val71LeufsTer31)
c.3_4insCTCTCTACAATCCCAGTTGCCTCATGTCCCACAATCACTGGAAACTTGGACACCATTGTTCCTTTTATCACATG (p.Val2LeufsTer31)
c.234_235insCTCTCTACAATCCCAGTTGCCTCATGTCCCACAATCACTGGAAACTTGGACACCATTGTTCCTTTTATCACATG (p.Val79LeufsTer31)
4g.99428578A>CCA357498738ADH7c.173T>G (p.Met58Arg)
c.209T>G (p.Met70Arg)
c.2T>G (p.Met1Arg)
c.233T>G (p.Met78Arg)
4g.99428578A>GCA357498740ADH7c.173T>C (p.Met58Thr)
c.209T>C (p.Met70Thr)
c.2T>C (p.Met1Thr)
c.233T>C (p.Met78Thr)
4g.99428578A>TCA357498739ADH7c.173T>A (p.Met58Lys)
c.209T>A (p.Met70Lys)
c.2T>A (p.Met1Lys)
c.233T>A (p.Met78Lys)
4g.99428579T>ACA357498741ADH7c.172A>T (p.Met58Leu)
c.208A>T (p.Met70Leu)
c.1A>T (p.Met1Leu)
c.232A>T (p.Met78Leu)
4g.99428579T>CCA3020911ADH7c.172A>G (p.Met58Val)
c.208A>G (p.Met70Val)
c.1A>G (p.Met1Val)
c.232A>G (p.Met78Val)
 dbSNP ExAC gnomAD v4
4g.99428579T>GCA357498742ADH7c.172A>C (p.Met58Leu)
c.208A>C (p.Met70Leu)
c.1A>C (p.Met1Leu)
c.232A>C (p.Met78Leu)
 dbSNP gnomAD v4
4g.99428579T=CA1480005358ADH7c.172A= (p.Met58=)
c.208A= (p.Met70=)
c.1A= (p.Met1=)
c.232A= (p.Met78=)
4g.99428580T>ACA440318983ADH7c.171A>T (p.Thr57=)
c.207A>T (p.Thr69=)
c.-1A>T (n.-1A>T)
c.231A>T (p.Thr77=)
4g.99428580T>CCA3020912ADH7c.171A>G (p.Thr57=)
c.207A>G (p.Thr69=)
c.-1A>G (n.-1A>G)
c.231A>G (p.Thr77=)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.99428580T>GCA440318987ADH7c.171A>C (p.Thr57=)
c.207A>C (p.Thr69=)
c.-1A>C (n.-1A>C)
c.231A>C (p.Thr77=)
4g.99428580T=CA1480005361ADH7c.171A= (p.Thr57=)
c.207A= (p.Thr69=)
c.-1A= (n.-1A=)
c.231A= (p.Thr77=)
4g.99428581G>ACA357498743ADH7c.170C>T (p.Thr57Ile)
c.206C>T (p.Thr69Ile)
c.-2C>T (n.-2C>T)
c.230C>T (p.Thr77Ile)
 gnomAD v4
4g.99428581G>CCA357498744ADH7c.170C>G (p.Thr57Arg)
c.206C>G (p.Thr69Arg)
c.-2C>G (n.-2C>G)
c.230C>G (p.Thr77Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.99428581G=CA1480005364ADH7c.170C= (p.Thr57=)
c.206C= (p.Thr69=)
c.-2C= (n.-2C=)
c.230C= (p.Thr77=)
4g.99428581G>TCA102654278ADH7c.170C>A (p.Thr57Lys)
c.206C>A (p.Thr69Lys)
c.-2C>A (n.-2C>A)
c.230C>A (p.Thr77Lys)
 dbSNP
4g.99428582T>ACA357498745ADH7c.169A>T (p.Thr57Ser)
c.205A>T (p.Thr69Ser)
c.-3A>T (n.-3A>T)
c.229A>T (p.Thr77Ser)
4g.99428582T>CCA357498746ADH7c.169A>G (p.Thr57Ala)
c.205A>G (p.Thr69Ala)
c.-3A>G (n.-3A>G)
c.229A>G (p.Thr77Ala)
 ClinVar dbSNP
4g.99428582T>GCA357498747ADH7c.169A>C (p.Thr57Pro)
c.205A>C (p.Thr69Pro)
c.-3A>C (n.-3A>C)
c.229A>C (p.Thr77Pro)
4g.99428583T>ACA440319006ADH7c.168A>T (p.Gly56=)
c.204A>T (p.Gly68=)
c.-4A>T (n.-4A>T)
c.228A>T (p.Gly76=)
 gnomAD v4
4g.99428583T>CCA440319008ADH7c.168A>G (p.Gly56=)
c.204A>G (p.Gly68=)
c.-4A>G (n.-4A>G)
c.228A>G (p.Gly76=)
 dbSNP
4g.99428583T>GCA440319010ADH7c.168A>C (p.Gly56=)
c.204A>C (p.Gly68=)
c.-4A>C (n.-4A>C)
c.228A>C (p.Gly76=)
4g.99428583T=CA1480005368ADH7c.168A= (p.Gly56=)
c.204A= (p.Gly68=)
c.-4A= (n.-4A=)
c.228A= (p.Gly76=)
4g.99428584C>ACA357498748ADH7c.167G>T (p.Gly56Val)
c.203G>T (p.Gly68Val)
c.-5G>T (n.-5G>T)
c.227G>T (p.Gly76Val)
 gnomAD v4
4g.99428584C=CA1480005370ADH7c.167G= (p.Gly56=)
c.203G= (p.Gly68=)
c.-5G= (n.-5G=)
c.227G= (p.Gly76=)
4g.99428584C>GCA357498749ADH7c.167G>C (p.Gly56Ala)
c.203G>C (p.Gly68Ala)
c.-5G>C (n.-5G>C)
c.227G>C (p.Gly76Ala)
4g.99428584C>TCA357498750ADH7c.167G>A (p.Gly56Glu)
c.203G>A (p.Gly68Glu)
c.-5G>A (n.-5G>A)
c.227G>A (p.Gly76Glu)
 dbSNP
4g.99428585C>ACA3020913ADH7c.166G>T (p.Gly56Ter)
c.202G>T (p.Gly68Ter)
c.-6G>T (n.-6G>T)
c.226G>T (p.Gly76Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428585C=CA1480005374ADH7c.166G= (p.Gly56=)
c.202G= (p.Gly68=)
c.-6G= (n.-6G=)
c.226G= (p.Gly76=)
4g.99428585C>GCA357498751ADH7c.166G>C (p.Gly56Arg)
c.202G>C (p.Gly68Arg)
c.-6G>C (n.-6G>C)
c.226G>C (p.Gly76Arg)
4g.99428585C>TCA357498752ADH7c.166G>A (p.Gly56Arg)
c.202G>A (p.Gly68Arg)
c.-6G>A (n.-6G>A)
c.226G>A (p.Gly76Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.99428586T>ACA357498753ADH7c.165A>T (p.Lys55Asn)
c.201A>T (p.Lys67Asn)
c.-7A>T (n.-7A>T)
c.225A>T (p.Lys75Asn)
4g.99428586T>CCA440319027ADH7c.165A>G (p.Lys55=)
c.201A>G (p.Lys67=)
c.-7A>G (n.-7A>G)
c.225A>G (p.Lys75=)
4g.99428586T>GCA357498754ADH7c.165A>C (p.Lys55Asn)
c.201A>C (p.Lys67Asn)
c.-7A>C (n.-7A>C)
c.225A>C (p.Lys75Asn)
4g.99428587T>ACA357498755ADH7c.164A>T (p.Lys55Ile)
c.200A>T (p.Lys67Ile)
c.-8A>T (n.-8A>T)
c.224A>T (p.Lys75Ile)
4g.99428587T>CCA357498756ADH7c.164A>G (p.Lys55Arg)
c.200A>G (p.Lys67Arg)
c.-8A>G (n.-8A>G)
c.224A>G (p.Lys75Arg)
4g.99428587T>GCA357498757ADH7c.164A>C (p.Lys55Thr)
c.200A>C (p.Lys67Thr)
c.-8A>C (n.-8A>C)
c.224A>C (p.Lys75Thr)
4g.99428588T>ACA357498758ADH7c.163A>T (p.Lys55Ter)
c.199A>T (p.Lys67Ter)
c.-9A>T (n.-9A>T)
c.223A>T (p.Lys75Ter)
4g.99428588T>CCA357498759ADH7c.163A>G (p.Lys55Glu)
c.199A>G (p.Lys67Glu)
c.-9A>G (n.-9A>G)
c.223A>G (p.Lys75Glu)
4g.99428588T>GCA357498760ADH7c.163A>C (p.Lys55Gln)
c.199A>C (p.Lys67Gln)
c.-9A>C (n.-9A>C)
c.223A>C (p.Lys75Gln)
4g.99428589T>ACA440319054ADH7c.162A>T (p.Ile54=)
c.198A>T (p.Ile66=)
c.-10A>T (n.-10A>T)
c.222A>T (p.Ile74=)
4g.99428589T>CCA357498761ADH7c.162A>G (p.Ile54Met)
c.198A>G (p.Ile66Met)
c.-10A>G (n.-10A>G)
c.222A>G (p.Ile74Met)
4g.99428589T>GCA440319056ADH7c.162A>C (p.Ile54=)
c.198A>C (p.Ile66=)
c.-10A>C (n.-10A>C)
c.222A>C (p.Ile74=)
4g.99428590A>CCA357498762ADH7c.161T>G (p.Ile54Arg)
c.197T>G (p.Ile66Arg)
c.-11T>G (n.-11T>G)
c.221T>G (p.Ile74Arg)
4g.99428590A>GCA357498763ADH7c.161T>C (p.Ile54Thr)
c.197T>C (p.Ile66Thr)
c.-11T>C (n.-11T>C)
c.221T>C (p.Ile74Thr)
4g.99428590A>TCA357498764ADH7c.161T>A (p.Ile54Lys)
c.197T>A (p.Ile66Lys)
c.-11T>A (n.-11T>A)
c.221T>A (p.Ile74Lys)
4g.99428591T>ACA357498767ADH7c.160A>T (p.Ile54Leu)
c.196A>T (p.Ile66Leu)
c.-12A>T (n.-12A>T)
c.220A>T (p.Ile74Leu)
 dbSNP gnomAD v4
4g.99428591T>CCA357498766ADH7c.160A>G (p.Ile54Val)
c.196A>G (p.Ile66Val)
c.-12A>G (n.-12A>G)
c.220A>G (p.Ile74Val)
4g.99428591T>GCA357498765ADH7c.160A>C (p.Ile54Leu)
c.196A>C (p.Ile66Leu)
c.-12A>C (n.-12A>C)
c.220A>C (p.Ile74Leu)
4g.99428591T=CA1480005376ADH7c.160A= (p.Ile54=)
c.196A= (p.Ile66=)
c.-12A= (n.-12A=)
c.220A= (p.Ile74=)
4g.99428592C>ACA440319057ADH7c.159G>T (p.Val53=)
c.195G>T (p.Val65=)
c.-13G>T (n.-13G>T)
c.219G>T (p.Val73=)
4g.99428592C=CA1480005378ADH7c.159G= (p.Val53=)
c.195G= (p.Val65=)
c.-13G= (n.-13G=)
c.219G= (p.Val73=)
4g.99428592C>GCA440319058ADH7c.159G>C (p.Val53=)
c.195G>C (p.Val65=)
c.-13G>C (n.-13G>C)
c.219G>C (p.Val73=)
4g.99428592C>TCA102654291ADH7c.159G>A (p.Val53=)
c.195G>A (p.Val65=)
c.-13G>A (n.-13G>A)
c.219G>A (p.Val73=)
 dbSNP COSMIC
4g.99428593A>CCA357498768ADH7c.158T>G (p.Val53Gly)
c.194T>G (p.Val65Gly)
c.-14T>G (n.-14T>G)
c.218T>G (p.Val73Gly)
4g.99428593A>GCA357498769ADH7c.158T>C (p.Val53Ala)
c.194T>C (p.Val65Ala)
c.-14T>C (n.-14T>C)
c.218T>C (p.Val73Ala)
4g.99428593A>TCA357498770ADH7c.158T>A (p.Val53Glu)
c.194T>A (p.Val65Glu)
c.-14T>A (n.-14T>A)
c.218T>A (p.Val73Glu)
4g.99428594C>ACA357498771ADH7c.157G>T (p.Val53Leu)
c.193G>T (p.Val65Leu)
c.-15G>T (n.-15G>T)
c.217G>T (p.Val73Leu)
4g.99428594C=CA1480005382ADH7c.157G= (p.Val53=)
c.193G= (p.Val65=)
c.-15G= (n.-15G=)
c.217G= (p.Val73=)
4g.99428594C>GCA357498772ADH7c.157G>C (p.Val53Leu)
c.193G>C (p.Val65Leu)
c.-15G>C (n.-15G>C)
c.217G>C (p.Val73Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.99428594C>TCA357498773ADH7c.157G>A (p.Val53Met)
c.193G>A (p.Val65Met)
c.-15G>A (n.-15G>A)
c.217G>A (p.Val73Met)
 dbSNP gnomAD v3 gnomAD v4
4g.99428595A>CCA357498774ADH7c.156T>G (p.His52Gln)
c.192T>G (p.His64Gln)
c.-16T>G (n.-16T>G)
c.216T>G (p.His72Gln)
4g.99428595A>GCA440319059ADH7c.156T>C (p.His52=)
c.192T>C (p.His64=)
c.-16T>C (n.-16T>C)
c.216T>C (p.His72=)
4g.99428595A>TCA357498775ADH7c.156T>A (p.His52Gln)
c.192T>A (p.His64Gln)
c.-16T>A (n.-16T>A)
c.216T>A (p.His72Gln)
4g.99428596T>ACA357498776ADH7c.155A>T (p.His52Leu)
c.191A>T (p.His64Leu)
c.-17A>T (n.-17A>T)
c.215A>T (p.His72Leu)
4g.99428596T>CCA3020914ADH7c.155A>G (p.His52Arg)
c.191A>G (p.His64Arg)
c.-17A>G (n.-17A>G)
c.215A>G (p.His72Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428596T>GCA357498777ADH7c.155A>C (p.His52Pro)
c.191A>C (p.His64Pro)
c.-17A>C (n.-17A>C)
c.215A>C (p.His72Pro)
4g.99428596T=CA1480005383ADH7c.155A= (p.His52=)
c.191A= (p.His64=)
c.-17A= (n.-17A=)
c.215A= (p.His72=)
4g.99428597G>ACA102654306ADH7c.154C>T (p.His52Tyr)
c.190C>T (p.His64Tyr)
c.-18C>T (n.-18C>T)
c.214C>T (p.His72Tyr)
 dbSNP
4g.99428597G>CCA357498779ADH7c.154C>G (p.His52Asp)
c.190C>G (p.His64Asp)
c.-18C>G (n.-18C>G)
c.214C>G (p.His72Asp)
4g.99428597G=CA1480005385ADH7c.154C= (p.His52=)
c.190C= (p.His64=)
c.-18C= (n.-18C=)
c.214C= (p.His72=)
4g.99428597G>TCA357498778ADH7c.154C>A (p.His52Asn)
c.190C>A (p.His64Asn)
c.-18C>A (n.-18C>A)
c.214C>A (p.His72Asn)
4g.99428598G>ACA440319060ADH7c.153C>T (p.Asp51=)
c.189C>T (p.Asp63=)
c.-19C>T (n.-19C>T)
c.213C>T (p.Asp71=)
 gnomAD v4
4g.99428598G>CCA357498780ADH7c.153C>G (p.Asp51Glu)
c.189C>G (p.Asp63Glu)
c.-19C>G (n.-19C>G)
c.213C>G (p.Asp71Glu)
4g.99428598G=CA1480005388ADH7c.153C= (p.Asp51=)
c.189C= (p.Asp63=)
c.-19C= (n.-19C=)
c.213C= (p.Asp71=)
4g.99428598G>TCA3020915ADH7c.153C>A (p.Asp51Glu)
c.189C>A (p.Asp63Glu)
c.-19C>A (n.-19C>A)
c.213C>A (p.Asp71Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428599T>ACA357498781ADH7c.152A>T (p.Asp51Val)
c.188A>T (p.Asp63Val)
c.-20A>T (n.-20A>T)
c.212A>T (p.Asp71Val)
4g.99428599T>CCA357498782ADH7c.152A>G (p.Asp51Gly)
c.188A>G (p.Asp63Gly)
c.-20A>G (n.-20A>G)
c.212A>G (p.Asp71Gly)
4g.99428599T>GCA357498783ADH7c.152A>C (p.Asp51Ala)
c.188A>C (p.Asp63Ala)
c.-20A>C (n.-20A>C)
c.212A>C (p.Asp71Ala)
4g.99428600C>ACA357498784ADH7c.151G>T (p.Asp51Tyr)
c.187G>T (p.Asp63Tyr)
c.-21G>T (n.-21G>T)
c.211G>T (p.Asp71Tyr)
 gnomAD v4
4g.99428600C>GCA357498785ADH7c.151G>C (p.Asp51His)
c.187G>C (p.Asp63His)
c.-21G>C (n.-21G>C)
c.211G>C (p.Asp71His)
4g.99428600C>TCA357498786ADH7c.151G>A (p.Asp51Asn)
c.187G>A (p.Asp63Asn)
c.-21G>A (n.-21G>A)
c.211G>A (p.Asp71Asn)
 gnomAD v4
4g.99428601A=CA1480005394ADH7c.150T= (p.Asp50=)
c.186T= (p.Asp62=)
c.-22T= (n.-22T=)
c.210T= (p.Asp70=)
4g.99428601A>CCA357498787ADH7c.150T>G (p.Asp50Glu)
c.186T>G (p.Asp62Glu)
c.-22T>G (n.-22T>G)
c.210T>G (p.Asp70Glu)
4g.99428601A>GCA440319061ADH7c.150T>C (p.Asp50=)
c.186T>C (p.Asp62=)
c.-22T>C (n.-22T>C)
c.210T>C (p.Asp70=)
4g.99428601A>TCA3020916ADH7c.150T>A (p.Asp50Glu)
c.186T>A (p.Asp62Glu)
c.-22T>A (n.-22T>A)
c.210T>A (p.Asp70Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428602T>ACA357498788ADH7c.149A>T (p.Asp50Val)
c.185A>T (p.Asp62Val)
c.-23A>T (n.-23A>T)
c.209A>T (p.Asp70Val)
4g.99428602T>CCA357498789ADH7c.149A>G (p.Asp50Gly)
c.185A>G (p.Asp62Gly)
c.-23A>G (n.-23A>G)
c.209A>G (p.Asp70Gly)
4g.99428602T>GCA357498790ADH7c.149A>C (p.Asp50Ala)
c.185A>C (p.Asp62Ala)
c.-23A>C (n.-23A>C)
c.209A>C (p.Asp70Ala)
4g.99428603C>ACA357498791ADH7c.148G>T (p.Asp50Tyr)
c.184G>T (p.Asp62Tyr)
c.-24G>T (n.-24G>T)
c.208G>T (p.Asp70Tyr)
4g.99428603C=CA1480005398ADH7c.148G= (p.Asp50=)
c.184G= (p.Asp62=)
c.-24G= (n.-24G=)
c.208G= (p.Asp70=)
4g.99428603C>GCA3020918ADH7c.148G>C (p.Asp50His)
c.184G>C (p.Asp62His)
c.-24G>C (n.-24G>C)
c.208G>C (p.Asp70His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428603C>TCA3020917ADH7c.148G>A (p.Asp50Asn)
c.184G>A (p.Asp62Asn)
c.-24G>A (n.-24G>A)
c.208G>A (p.Asp70Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428604T>ACA440319062ADH7c.147A>T (p.Thr49=)
c.183A>T (p.Thr61=)
c.-25A>T (n.-25A>T)
c.207A>T (p.Thr69=)
4g.99428604T>CCA440319064ADH7c.147A>G (p.Thr49=)
c.183A>G (p.Thr61=)
c.-25A>G (n.-25A>G)
c.207A>G (p.Thr69=)
4g.99428604T>GCA440319063ADH7c.147A>C (p.Thr49=)
c.183A>C (p.Thr61=)
c.-25A>C (n.-25A>C)
c.207A>C (p.Thr69=)
4g.99428605G>ACA357498794ADH7c.146C>T (p.Thr49Ile)
c.182C>T (p.Thr61Ile)
c.-26C>T (n.-26C>T)
c.206C>T (p.Thr69Ile)
4g.99428605G>CCA357498792ADH7c.146C>G (p.Thr49Arg)
c.182C>G (p.Thr61Arg)
c.-26C>G (n.-26C>G)
c.206C>G (p.Thr69Arg)
4g.99428605G>TCA357498793ADH7c.146C>A (p.Thr49Lys)
c.182C>A (p.Thr61Lys)
c.-26C>A (n.-26C>A)
c.206C>A (p.Thr69Lys)
4g.99428606T>ACA357498795ADH7c.145A>T (p.Thr49Ser)
c.181A>T (p.Thr61Ser)
c.-27A>T (n.-27A>T)
c.205A>T (p.Thr69Ser)
4g.99428606T>CCA357498796ADH7c.145A>G (p.Thr49Ala)
c.181A>G (p.Thr61Ala)
c.-27A>G (n.-27A>G)
c.205A>G (p.Thr69Ala)
4g.99428606T>GCA357498797ADH7c.145A>C (p.Thr49Pro)
c.181A>C (p.Thr61Pro)
c.-27A>C (n.-27A>C)
c.205A>C (p.Thr69Pro)
4g.99428607G>ACA440319065ADH7c.144C>T (p.Arg48=)
c.180C>T (p.Arg60=)
c.-28C>T (n.-28C>T)
c.204C>T (p.Arg68=)
4g.99428607G>CCA440319066ADH7c.144C>G (p.Arg48=)
c.180C>G (p.Arg60=)
c.-28C>G (n.-28C>G)
c.204C>G (p.Arg68=)
4g.99428607G>TCA440319067ADH7c.144C>A (p.Arg48=)
c.180C>A (p.Arg60=)
c.-28C>A (n.-28C>A)
c.204C>A (p.Arg68=)
 gnomAD v4
4g.99428608C>ACA357498798ADH7c.143G>T (p.Arg48Leu)
c.179G>T (p.Arg60Leu)
c.-29G>T (n.-29G>T)
c.203G>T (p.Arg68Leu)
4g.99428608C=CA1480005406ADH7c.143G= (p.Arg48=)
c.179G= (p.Arg60=)
c.-29G= (n.-29G=)
c.203G= (p.Arg68=)
4g.99428608C>GCA3020920ADH7c.143G>C (p.Arg48Pro)
c.179G>C (p.Arg60Pro)
c.-29G>C (n.-29G>C)
c.203G>C (p.Arg68Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99428608C>TCA3020919ADH7c.143G>A (p.Arg48His)
c.179G>A (p.Arg60His)
c.-29G>A (n.-29G>A)
c.203G>A (p.Arg68His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99428609G>ACA3020921ADH7c.142C>T (p.Arg48Cys)
c.178C>T (p.Arg60Cys)
c.-30C>T (n.-30C>T)
c.202C>T (p.Arg68Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.99428609G>CCA357498799ADH7c.142C>G (p.Arg48Gly)
c.178C>G (p.Arg60Gly)
c.-30C>G (n.-30C>G)
c.202C>G (p.Arg68Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.99428609G=CA1480005409ADH7c.142C= (p.Arg48=)
c.178C= (p.Arg60=)
c.-30C= (n.-30C=)
c.202C= (p.Arg68=)
4g.99428609G>TCA357498800ADH7c.142C>A (p.Arg48Ser)
c.178C>A (p.Arg60Ser)
c.-30C>A (n.-30C>A)
c.202C>A (p.Arg68Ser)
4g.99428610A>CCA357498801ADH7c.141T>G (p.Cys47Trp)
c.177T>G (p.Cys59Trp)
c.-31T>G (n.-31T>G)
c.201T>G (p.Cys67Trp)
4g.99428610A>GCA440319068ADH7c.141T>C (p.Cys47=)
c.177T>C (p.Cys59=)
c.-31T>C (n.-31T>C)
c.201T>C (p.Cys67=)
4g.99428610A>TCA357498802ADH7c.141T>A (p.Cys47Ter)
c.177T>A (p.Cys59Ter)
c.-31T>A (n.-31T>A)
c.201T>A (p.Cys67Ter)
4g.99428611C>ACA357498805ADH7c.140G>T (p.Cys47Phe)
c.176G>T (p.Cys59Phe)
c.-32G>T (n.-32G>T)
c.200G>T (p.Cys67Phe)
4g.99428611C>GCA357498804ADH7c.140G>C (p.Cys47Ser)
c.176G>C (p.Cys59Ser)
c.-32G>C (n.-32G>C)
c.200G>C (p.Cys67Ser)
4g.99428611C>TCA357498803ADH7c.140G>A (p.Cys47Tyr)
c.176G>A (p.Cys59Tyr)
c.-32G>A (n.-32G>A)
c.200G>A (p.Cys67Tyr)
4g.99428612A=CA1480005413ADH7c.139T= (p.Cys47=)
c.175T= (p.Cys59=)
c.-33T= (n.-33T=)
c.199T= (p.Cys67=)
4g.99428612A>CCA357498806ADH7c.139T>G (p.Cys47Gly)
c.175T>G (p.Cys59Gly)
c.-33T>G (n.-33T>G)
c.199T>G (p.Cys67Gly)
4g.99428612A>GCA357498807ADH7c.139T>C (p.Cys47Arg)
c.175T>C (p.Cys59Arg)
c.-33T>C (n.-33T>C)
c.199T>C (p.Cys67Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.99428612A>TCA357498808ADH7c.139T>A (p.Cys47Ser)
c.175T>A (p.Cys59Ser)
c.-33T>A (n.-33T>A)
c.199T>A (p.Cys67Ser)
4g.99428613G>ACA3020922ADH7c.138C>T (p.Ile46=)
c.174C>T (p.Ile58=)
c.-34C>T (n.-34C>T)
c.198C>T (p.Ile66=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.99428613G>CCA357498809ADH7c.138C>G (p.Ile46Met)
c.174C>G (p.Ile58Met)
c.-34C>G (n.-34C>G)
c.198C>G (p.Ile66Met)
 gnomAD v4
4g.99428613G=CA1480005418ADH7c.138C= (p.Ile46=)
c.174C= (p.Ile58=)
c.-34C= (n.-34C=)
c.198C= (p.Ile66=)
4g.99428613G>TCA440319069ADH7c.138C>A (p.Ile46=)
c.174C>A (p.Ile58=)
c.-34C>A (n.-34C>A)
c.198C>A (p.Ile66=)
4g.99428614A>CCA357498810ADH7c.137T>G (p.Ile46Ser)
c.173T>G (p.Ile58Ser)
c.-35T>G (n.-35T>G)
c.197T>G (p.Ile66Ser)
4g.99428614A>GCA357498811ADH7c.137T>C (p.Ile46Thr)
c.173T>C (p.Ile58Thr)
c.-35T>C (n.-35T>C)
c.197T>C (p.Ile66Thr)
4g.99428614A>TCA357498812ADH7c.137T>A (p.Ile46Asn)
c.173T>A (p.Ile58Asn)
c.-35T>A (n.-35T>A)
c.197T>A (p.Ile66Asn)
4g.99428615T>ACA357498813ADH7c.136A>T (p.Ile46Phe)
c.172A>T (p.Ile58Phe)
c.-36A>T (n.-36A>T)
c.196A>T (p.Ile66Phe)
4g.99428615T>CCA357498814ADH7c.136A>G (p.Ile46Val)
c.172A>G (p.Ile58Val)
c.-36A>G (n.-36A>G)
c.196A>G (p.Ile66Val)
 dbSNP COSMIC COSMIC
4g.99428615T>GCA357498815ADH7c.136A>C (p.Ile46Leu)
c.172A>C (p.Ile58Leu)
c.-36A>C (n.-36A>C)
c.196A>C (p.Ile66Leu)
4g.99428615T=CA1480005423ADH7c.136A= (p.Ile46=)
c.172A= (p.Ile58=)
c.-36A= (n.-36A=)
c.196A= (p.Ile66=)
4g.99428616T>ACA440319070ADH7c.135A>T (p.Gly45=)
c.171A>T (p.Gly57=)
c.-37A>T (n.-37A>T)
c.195A>T (p.Gly65=)
4g.99428616T>CCA440319071ADH7c.135A>G (p.Gly45=)
c.171A>G (p.Gly57=)
c.-37A>G (n.-37A>G)
c.195A>G (p.Gly65=)
4g.99428616T>GCA440319072ADH7c.135A>C (p.Gly45=)
c.171A>C (p.Gly57=)
c.-37A>C (n.-37A>C)
c.195A>C (p.Gly65=)
4g.99428617C>ACA357498816ADH7c.134G>T (p.Gly45Val)
c.170G>T (p.Gly57Val)
c.-38G>T (n.-38G>T)
c.194G>T (p.Gly65Val)
4g.99428617C>GCA357498817ADH7c.134G>C (p.Gly45Ala)
c.170G>C (p.Gly57Ala)
c.-38G>C (n.-38G>C)
c.194G>C (p.Gly65Ala)
4g.99428617C>TCA357498818ADH7c.134G>A (p.Gly45Glu)
c.170G>A (p.Gly57Glu)
c.-38G>A (n.-38G>A)
c.194G>A (p.Gly65Glu)
 COSMIC COSMIC
4g.99428618C>ACA357498821ADH7c.133G>T (p.Gly45Ter)
c.169G>T (p.Gly57Ter)
c.-39G>T (n.-39G>T)
c.193G>T (p.Gly65Ter)
4g.99428618C>GCA357498820ADH7c.133G>C (p.Gly45Arg)
c.169G>C (p.Gly57Arg)
c.-39G>C (n.-39G>C)
c.193G>C (p.Gly65Arg)
4g.99428618C>TCA357498819ADH7c.133G>A (p.Gly45Arg)
c.169G>A (p.Gly57Arg)
c.-39G>A (n.-39G>A)
c.193G>A (p.Gly65Arg)
 gnomAD v4
4g.99428619T>ACA440319078ADH7c.132A>T (p.Thr44=)
c.168A>T (p.Thr56=)
c.-40A>T (n.-40A>T)
c.192A>T (p.Thr64=)
4g.99428619T>CCA440319076ADH7c.132A>G (p.Thr44=)
c.168A>G (p.Thr56=)
c.-40A>G (n.-40A>G)
c.192A>G (p.Thr64=)
4g.99428619T>GCA440319077ADH7c.132A>C (p.Thr44=)
c.168A>C (p.Thr56=)
c.-40A>C (n.-40A>C)
c.192A>C (p.Thr64=)
4g.99428620G>ACA357498822ADH7c.131C>T (p.Thr44Ile)
c.167C>T (p.Thr56Ile)
c.-41C>T (n.-41C>T)
c.191C>T (p.Thr64Ile)
 gnomAD v3 gnomAD v4
4g.99428620G>CCA357498823ADH7c.131C>G (p.Thr44Arg)
c.167C>G (p.Thr56Arg)
c.-41C>G (n.-41C>G)
c.191C>G (p.Thr64Arg)
4g.99428620G>TCA357498824ADH7c.131C>A (p.Thr44Lys)
c.167C>A (p.Thr56Lys)
c.-41C>A (n.-41C>A)
c.191C>A (p.Thr64Lys)
4g.99428621T>ACA357498825ADH7c.130A>T (p.Thr44Ser)
c.166A>T (p.Thr56Ser)
c.-42A>T (n.-42A>T)
c.190A>T (p.Thr64Ser)
4g.99428621T>CCA357498826ADH7c.130A>G (p.Thr44Ala)
c.166A>G (p.Thr56Ala)
c.-42A>G (n.-42A>G)
c.190A>G (p.Thr64Ala)
 gnomAD v4
4g.99428621T>GCA357498827ADH7c.130A>C (p.Thr44Pro)
c.166A>C (p.Thr56Pro)
c.-42A>C (n.-42A>C)
c.190A>C (p.Thr64Pro)
4g.99428622G>ACA440319082ADH7c.129C>T (p.Ala43=)
c.165C>T (p.Ala55=)
c.-43C>T (n.-43C>T)
c.189C>T (p.Ala63=)
 dbSNP gnomAD v4
4g.99428622G>CCA440319084ADH7c.129C>G (p.Ala43=)
c.165C>G (p.Ala55=)
c.-43C>G (n.-43C>G)
c.189C>G (p.Ala63=)
4g.99428622G=CA1480005426ADH7c.129C= (p.Ala43=)
c.165C= (p.Ala55=)
c.-43C= (n.-43C=)
c.189C= (p.Ala63=)
4g.99428622G>TCA440319086ADH7c.129C>A (p.Ala43=)
c.165C>A (p.Ala55=)
c.-43C>A (n.-43C>A)
c.189C>A (p.Ala63=)
 dbSNP gnomAD v4

Number of alleles fetched