Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.894106G>ACA372776939DMRT1c.733G>A (p.Gly245Arg)
n.882G>A
c.259G>A (p.Gly87Arg)
c.781G>A (p.Gly261Arg)
c.587-22657G>A (n.587-22657G>A)
c.539-22657G>A (n.539-22657G>A)
c.187G>A (p.Gly63Arg)
gnomAD v4
9g.894106G>CCA372776940DMRT1c.733G>C (p.Gly245Arg)
n.882G>C
c.259G>C (p.Gly87Arg)
c.781G>C (p.Gly261Arg)
c.587-22657G>C (n.587-22657G>C)
c.539-22657G>C (n.539-22657G>C)
c.187G>C (p.Gly63Arg)
9g.894106G>TCA372776942DMRT1c.733G>T (p.Gly245Ter)
n.882G>T
c.259G>T (p.Gly87Ter)
c.781G>T (p.Gly261Ter)
c.587-22657G>T (n.587-22657G>T)
c.539-22657G>T (n.539-22657G>T)
c.187G>T (p.Gly63Ter)
9g.894107G>ACA4961633DMRT1c.734G>A (p.Gly245Glu)
n.883G>A
c.260G>A (p.Gly87Glu)
c.782G>A (p.Gly261Glu)
c.587-22656G>A (n.587-22656G>A)
c.539-22656G>A (n.539-22656G>A)
c.188G>A (p.Gly63Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894107G>CCA372776944DMRT1c.734G>C (p.Gly245Ala)
n.883G>C
c.260G>C (p.Gly87Ala)
c.782G>C (p.Gly261Ala)
c.587-22656G>C (n.587-22656G>C)
c.539-22656G>C (n.539-22656G>C)
c.188G>C (p.Gly63Ala)
9g.894107G=CA1827190817DMRT1c.734G= (p.Gly245=)
n.883G=
c.260G= (p.Gly87=)
c.782G= (p.Gly261=)
c.587-22656G= (n.587-22656G=)
c.539-22656G= (n.539-22656G=)
c.188G= (p.Gly63=)
9g.894107G>TCA372776946DMRT1c.734G>T (p.Gly245Val)
n.883G>T
c.260G>T (p.Gly87Val)
c.782G>T (p.Gly261Val)
c.587-22656G>T (n.587-22656G>T)
c.539-22656G>T (n.539-22656G>T)
c.188G>T (p.Gly63Val)
9g.894108A=CA1827190819DMRT1c.735A= (p.Gly245=)
n.884A=
c.261A= (p.Gly87=)
c.783A= (p.Gly261=)
c.587-22655A= (n.587-22655A=)
c.539-22655A= (n.539-22655A=)
c.189A= (p.Gly63=)
9g.894108A>CCA463850437DMRT1c.735A>C (p.Gly245=)
n.884A>C
c.261A>C (p.Gly87=)
c.783A>C (p.Gly261=)
c.587-22655A>C (n.587-22655A>C)
c.539-22655A>C (n.539-22655A>C)
c.189A>C (p.Gly63=)
dbSNP
9g.894108A>GCA4961634DMRT1c.735A>G (p.Gly245=)
n.884A>G
c.261A>G (p.Gly87=)
c.783A>G (p.Gly261=)
c.587-22655A>G (n.587-22655A>G)
c.539-22655A>G (n.539-22655A>G)
c.189A>G (p.Gly63=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894108A>TCA463850438DMRT1c.735A>T (p.Gly245=)
n.884A>T
c.261A>T (p.Gly87=)
c.783A>T (p.Gly261=)
c.587-22655A>T (n.587-22655A>T)
c.539-22655A>T (n.539-22655A>T)
c.189A>T (p.Gly63=)
9g.894109A=CA1827190821DMRT1c.736A= (p.Asn246=)
n.885A=
c.262A= (p.Asn88=)
c.784A= (p.Asn262=)
c.587-22654A= (n.587-22654A=)
c.539-22654A= (n.539-22654A=)
c.190A= (p.Asn64=)
9g.894109A>CCA372776948DMRT1c.736A>C (p.Asn246His)
n.885A>C
c.262A>C (p.Asn88His)
c.784A>C (p.Asn262His)
c.587-22654A>C (n.587-22654A>C)
c.539-22654A>C (n.539-22654A>C)
c.190A>C (p.Asn64His)
gnomAD v4
9g.894109A>GCA372776950DMRT1c.736A>G (p.Asn246Asp)
n.885A>G
c.262A>G (p.Asn88Asp)
c.784A>G (p.Asn262Asp)
c.587-22654A>G (n.587-22654A>G)
c.539-22654A>G (n.539-22654A>G)
c.190A>G (p.Asn64Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894109A>TCA372776951DMRT1c.736A>T (p.Asn246Tyr)
n.885A>T
c.262A>T (p.Asn88Tyr)
c.784A>T (p.Asn262Tyr)
c.587-22654A>T (n.587-22654A>T)
c.539-22654A>T (n.539-22654A>T)
c.190A>T (p.Asn64Tyr)
9g.894110A=CA1827190823DMRT1c.737A= (p.Asn246=)
n.886A=
c.263A= (p.Asn88=)
c.785A= (p.Asn262=)
c.587-22653A= (n.587-22653A=)
c.539-22653A= (n.539-22653A=)
c.191A= (p.Asn64=)
9g.894110A>CCA372776953DMRT1c.737A>C (p.Asn246Thr)
n.886A>C
c.263A>C (p.Asn88Thr)
c.785A>C (p.Asn262Thr)
c.587-22653A>C (n.587-22653A>C)
c.539-22653A>C (n.539-22653A>C)
c.191A>C (p.Asn64Thr)
9g.894110A>GCA372776955DMRT1c.737A>G (p.Asn246Ser)
n.886A>G
c.263A>G (p.Asn88Ser)
c.785A>G (p.Asn262Ser)
c.587-22653A>G (n.587-22653A>G)
c.539-22653A>G (n.539-22653A>G)
c.191A>G (p.Asn64Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894110A>TCA372776957DMRT1c.737A>T (p.Asn246Ile)
n.886A>T
c.263A>T (p.Asn88Ile)
c.785A>T (p.Asn262Ile)
c.587-22653A>T (n.587-22653A>T)
c.539-22653A>T (n.539-22653A>T)
c.191A>T (p.Asn64Ile)
9g.894111T>ACA372776959DMRT1c.738T>A (p.Asn246Lys)
n.887T>A
c.264T>A (p.Asn88Lys)
c.786T>A (p.Asn262Lys)
c.587-22652T>A (n.587-22652T>A)
c.539-22652T>A (n.539-22652T>A)
c.192T>A (p.Asn64Lys)
gnomAD v4
9g.894111T>CCA463850444DMRT1c.738T>C (p.Asn246=)
n.887T>C
c.264T>C (p.Asn88=)
c.786T>C (p.Asn262=)
c.587-22652T>C (n.587-22652T>C)
c.539-22652T>C (n.539-22652T>C)
c.192T>C (p.Asn64=)
9g.894111T>GCA372776958DMRT1c.738T>G (p.Asn246Lys)
n.887T>G
c.264T>G (p.Asn88Lys)
c.786T>G (p.Asn262Lys)
c.587-22652T>G (n.587-22652T>G)
c.539-22652T>G (n.539-22652T>G)
c.192T>G (p.Asn64Lys)
9g.894112C>ACA372776960DMRT1c.739C>A (p.Pro247Thr)
n.888C>A
c.265C>A (p.Pro89Thr)
c.787C>A (p.Pro263Thr)
c.587-22651C>A (n.587-22651C>A)
c.539-22651C>A (n.539-22651C>A)
c.193C>A (p.Pro65Thr)
dbSNP gnomAD v3 gnomAD v4
9g.894112C=CA1827190824DMRT1c.739C= (p.Pro247=)
n.888C=
c.265C= (p.Pro89=)
c.787C= (p.Pro263=)
c.587-22651C= (n.587-22651C=)
c.539-22651C= (n.539-22651C=)
c.193C= (p.Pro65=)
9g.894112C>GCA372776961DMRT1c.739C>G (p.Pro247Ala)
n.888C>G
c.265C>G (p.Pro89Ala)
c.787C>G (p.Pro263Ala)
c.587-22651C>G (n.587-22651C>G)
c.539-22651C>G (n.539-22651C>G)
c.193C>G (p.Pro65Ala)
dbSNP gnomAD v2 gnomAD v4
9g.894112C>TCA372776962DMRT1c.739C>T (p.Pro247Ser)
n.888C>T
c.265C>T (p.Pro89Ser)
c.787C>T (p.Pro263Ser)
c.587-22651C>T (n.587-22651C>T)
c.539-22651C>T (n.539-22651C>T)
c.193C>T (p.Pro65Ser)
dbSNP gnomAD v4
9g.894113C>ACA372776963DMRT1c.740C>A (p.Pro247His)
n.889C>A
c.266C>A (p.Pro89His)
c.788C>A (p.Pro263His)
c.587-22650C>A (n.587-22650C>A)
c.539-22650C>A (n.539-22650C>A)
c.194C>A (p.Pro65His)
9g.894113C>GCA372776964DMRT1c.740C>G (p.Pro247Arg)
n.889C>G
c.266C>G (p.Pro89Arg)
c.788C>G (p.Pro263Arg)
c.587-22650C>G (n.587-22650C>G)
c.539-22650C>G (n.539-22650C>G)
c.194C>G (p.Pro65Arg)
9g.894113C>TCA372776966DMRT1c.740C>T (p.Pro247Leu)
n.889C>T
c.266C>T (p.Pro89Leu)
c.788C>T (p.Pro263Leu)
c.587-22650C>T (n.587-22650C>T)
c.539-22650C>T (n.539-22650C>T)
c.194C>T (p.Pro65Leu)
9g.894114C>ACA463850454DMRT1c.741C>A (p.Pro247=)
n.890C>A
c.267C>A (p.Pro89=)
c.789C>A (p.Pro263=)
c.587-22649C>A (n.587-22649C>A)
c.539-22649C>A (n.539-22649C>A)
c.195C>A (p.Pro65=)
9g.894114C=CA1827190827DMRT1c.741C= (p.Pro247=)
n.890C=
c.267C= (p.Pro89=)
c.789C= (p.Pro263=)
c.587-22649C= (n.587-22649C=)
c.539-22649C= (n.539-22649C=)
c.195C= (p.Pro65=)
9g.894114C>GCA463850455DMRT1c.741C>G (p.Pro247=)
n.890C>G
c.267C>G (p.Pro89=)
c.789C>G (p.Pro263=)
c.587-22649C>G (n.587-22649C>G)
c.539-22649C>G (n.539-22649C>G)
c.195C>G (p.Pro65=)
dbSNP gnomAD v4
9g.894114C>TCA463850456DMRT1c.741C>T (p.Pro247=)
n.890C>T
c.267C>T (p.Pro89=)
c.789C>T (p.Pro263=)
c.587-22649C>T (n.587-22649C>T)
c.539-22649C>T (n.539-22649C>T)
c.195C>T (p.Pro65=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.894115C>ACA372776968DMRT1c.742C>A (p.Leu248Ile)
n.891C>A
c.268C>A (p.Leu90Ile)
c.790C>A (p.Leu264Ile)
c.587-22648C>A (n.587-22648C>A)
c.539-22648C>A (n.539-22648C>A)
c.196C>A (p.Leu66Ile)
9g.894115C>GCA372776969DMRT1c.742C>G (p.Leu248Val)
n.891C>G
c.268C>G (p.Leu90Val)
c.790C>G (p.Leu264Val)
c.587-22648C>G (n.587-22648C>G)
c.539-22648C>G (n.539-22648C>G)
c.196C>G (p.Leu66Val)
9g.894115C>TCA372776971DMRT1c.742C>T (p.Leu248Phe)
n.891C>T
c.268C>T (p.Leu90Phe)
c.790C>T (p.Leu264Phe)
c.587-22648C>T (n.587-22648C>T)
c.539-22648C>T (n.539-22648C>T)
c.196C>T (p.Leu66Phe)
9g.894116T>ACA372776973DMRT1c.743T>A (p.Leu248His)
n.892T>A
c.269T>A (p.Leu90His)
c.791T>A (p.Leu264His)
c.587-22647T>A (n.587-22647T>A)
c.539-22647T>A (n.539-22647T>A)
c.197T>A (p.Leu66His)
9g.894116T>CCA372776975DMRT1c.743T>C (p.Leu248Pro)
n.892T>C
c.269T>C (p.Leu90Pro)
c.791T>C (p.Leu264Pro)
c.587-22647T>C (n.587-22647T>C)
c.539-22647T>C (n.539-22647T>C)
c.197T>C (p.Leu66Pro)
9g.894116T>GCA372776976DMRT1c.743T>G (p.Leu248Arg)
n.892T>G
c.269T>G (p.Leu90Arg)
c.791T>G (p.Leu264Arg)
c.587-22647T>G (n.587-22647T>G)
c.539-22647T>G (n.539-22647T>G)
c.197T>G (p.Leu66Arg)
9g.894117C>ACA463850460DMRT1c.744C>A (p.Leu248=)
n.893C>A
c.270C>A (p.Leu90=)
c.792C>A (p.Leu264=)
c.587-22646C>A (n.587-22646C>A)
c.539-22646C>A (n.539-22646C>A)
c.198C>A (p.Leu66=)
9g.894117C=CA1827190829DMRT1c.744C= (p.Leu248=)
n.893C=
c.270C= (p.Leu90=)
c.792C= (p.Leu264=)
c.587-22646C= (n.587-22646C=)
c.539-22646C= (n.539-22646C=)
c.198C= (p.Leu66=)
9g.894117C>GCA463850462DMRT1c.744C>G (p.Leu248=)
n.893C>G
c.270C>G (p.Leu90=)
c.792C>G (p.Leu264=)
c.587-22646C>G (n.587-22646C>G)
c.539-22646C>G (n.539-22646C>G)
c.198C>G (p.Leu66=)
9g.894117C>TCA4961635DMRT1c.744C>T (p.Leu248=)
n.893C>T
c.270C>T (p.Leu90=)
c.792C>T (p.Leu264=)
c.587-22646C>T (n.587-22646C>T)
c.539-22646C>T (n.539-22646C>T)
c.198C>T (p.Leu66=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.894118G>ACA4961636DMRT1c.745G>A (p.Gly249Arg)
n.894G>A
c.271G>A (p.Gly91Arg)
c.793G>A (p.Gly265Arg)
c.587-22645G>A (n.587-22645G>A)
c.539-22645G>A (n.539-22645G>A)
c.199G>A (p.Gly67Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894118G>CCA372776980DMRT1c.745G>C (p.Gly249Arg)
n.894G>C
c.271G>C (p.Gly91Arg)
c.793G>C (p.Gly265Arg)
c.587-22645G>C (n.587-22645G>C)
c.539-22645G>C (n.539-22645G>C)
c.199G>C (p.Gly67Arg)
9g.894118G=CA1827190831DMRT1c.745G= (p.Gly249=)
n.894G=
c.271G= (p.Gly91=)
c.793G= (p.Gly265=)
c.587-22645G= (n.587-22645G=)
c.539-22645G= (n.539-22645G=)
c.199G= (p.Gly67=)
9g.894118G>TCA187865018DMRT1c.745G>T (p.Gly249Trp)
n.894G>T
c.271G>T (p.Gly91Trp)
c.793G>T (p.Gly265Trp)
c.587-22645G>T (n.587-22645G>T)
c.539-22645G>T (n.539-22645G>T)
c.199G>T (p.Gly67Trp)
dbSNP COSMIC
9g.894119G>ACA372776981DMRT1c.746G>A (p.Gly249Glu)
n.895G>A
c.272G>A (p.Gly91Glu)
c.794G>A (p.Gly265Glu)
c.587-22644G>A (n.587-22644G>A)
c.539-22644G>A (n.539-22644G>A)
c.200G>A (p.Gly67Glu)
9g.894119G>CCA372776983DMRT1c.746G>C (p.Gly249Ala)
n.895G>C
c.272G>C (p.Gly91Ala)
c.794G>C (p.Gly265Ala)
c.587-22644G>C (n.587-22644G>C)
c.539-22644G>C (n.539-22644G>C)
c.200G>C (p.Gly67Ala)
9g.894119G>TCA372776984DMRT1c.746G>T (p.Gly249Val)
n.895G>T
c.272G>T (p.Gly91Val)
c.794G>T (p.Gly265Val)
c.587-22644G>T (n.587-22644G>T)
c.539-22644G>T (n.539-22644G>T)
c.200G>T (p.Gly67Val)
gnomAD v4
9g.894120G>ACA463850465DMRT1c.747G>A (p.Gly249=)
n.896G>A
c.273G>A (p.Gly91=)
c.795G>A (p.Gly265=)
c.587-22643G>A (n.587-22643G>A)
c.539-22643G>A (n.539-22643G>A)
c.201G>A (p.Gly67=)
COSMIC
9g.894120G>CCA4961637DMRT1c.747G>C (p.Gly249=)
n.896G>C
c.273G>C (p.Gly91=)
c.795G>C (p.Gly265=)
c.587-22643G>C (n.587-22643G>C)
c.539-22643G>C (n.539-22643G>C)
c.201G>C (p.Gly67=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894120G=CA1827190833DMRT1c.747G= (p.Gly249=)
n.896G=
c.273G= (p.Gly91=)
c.795G= (p.Gly265=)
c.587-22643G= (n.587-22643G=)
c.539-22643G= (n.539-22643G=)
c.201G= (p.Gly67=)
9g.894120G>TCA463850468DMRT1c.747G>T (p.Gly249=)
n.896G>T
c.273G>T (p.Gly91=)
c.795G>T (p.Gly265=)
c.587-22643G>T (n.587-22643G>T)
c.539-22643G>T (n.539-22643G>T)
c.201G>T (p.Gly67=)
dbSNP gnomAD v4
9g.894121G>ACA372776987DMRT1c.748G>A (p.Gly250Arg)
n.897G>A
c.274G>A (p.Gly92Arg)
c.796G>A (p.Gly266Arg)
c.587-22642G>A (n.587-22642G>A)
c.539-22642G>A (n.539-22642G>A)
c.202G>A (p.Gly68Arg)
9g.894121G>CCA372776988DMRT1c.748G>C (p.Gly250Arg)
n.897G>C
c.274G>C (p.Gly92Arg)
c.796G>C (p.Gly266Arg)
c.587-22642G>C (n.587-22642G>C)
c.539-22642G>C (n.539-22642G>C)
c.202G>C (p.Gly68Arg)
gnomAD v4
9g.894121G>TCA372776989DMRT1c.748G>T (p.Gly250Ter)
n.897G>T
c.274G>T (p.Gly92Ter)
c.796G>T (p.Gly266Ter)
c.587-22642G>T (n.587-22642G>T)
c.539-22642G>T (n.539-22642G>T)
c.202G>T (p.Gly68Ter)
9g.894122G>ACA372776991DMRT1c.749G>A (p.Gly250Glu)
n.898G>A
c.275G>A (p.Gly92Glu)
c.797G>A (p.Gly266Glu)
c.587-22641G>A (n.587-22641G>A)
c.539-22641G>A (n.539-22641G>A)
c.203G>A (p.Gly68Glu)
9g.894122G>CCA372776992DMRT1c.749G>C (p.Gly250Ala)
n.898G>C
c.275G>C (p.Gly92Ala)
c.797G>C (p.Gly266Ala)
c.587-22641G>C (n.587-22641G>C)
c.539-22641G>C (n.539-22641G>C)
c.203G>C (p.Gly68Ala)
9g.894122G=CA1827190836DMRT1c.749G= (p.Gly250=)
n.898G=
c.275G= (p.Gly92=)
c.797G= (p.Gly266=)
c.587-22641G= (n.587-22641G=)
c.539-22641G= (n.539-22641G=)
c.203G= (p.Gly68=)
9g.894122G>TCA372776993DMRT1c.749G>T (p.Gly250Val)
n.898G>T
c.275G>T (p.Gly92Val)
c.797G>T (p.Gly266Val)
c.587-22641G>T (n.587-22641G>T)
c.539-22641G>T (n.539-22641G>T)
c.203G>T (p.Gly68Val)
dbSNP gnomAD v2 gnomAD v4
9g.894123A>CCA463850473DMRT1c.750A>C (p.Gly250=)
n.899A>C
c.276A>C (p.Gly92=)
c.798A>C (p.Gly266=)
c.587-22640A>C (n.587-22640A>C)
c.539-22640A>C (n.539-22640A>C)
c.204A>C (p.Gly68=)
9g.894123A>GCA463850475DMRT1c.750A>G (p.Gly250=)
n.899A>G
c.276A>G (p.Gly92=)
c.798A>G (p.Gly266=)
c.587-22640A>G (n.587-22640A>G)
c.539-22640A>G (n.539-22640A>G)
c.204A>G (p.Gly68=)
9g.894123A>TCA463850477DMRT1c.750A>T (p.Gly250=)
n.899A>T
c.276A>T (p.Gly92=)
c.798A>T (p.Gly266=)
c.587-22640A>T (n.587-22640A>T)
c.539-22640A>T (n.539-22640A>T)
c.204A>T (p.Gly68=)
gnomAD v4
9g.894124T>ACA372776995DMRT1c.751T>A (p.Ser251Thr)
n.900T>A
c.277T>A (p.Ser93Thr)
c.799T>A (p.Ser267Thr)
c.587-22639T>A (n.587-22639T>A)
c.539-22639T>A (n.539-22639T>A)
c.205T>A (p.Ser69Thr)
9g.894124T>CCA372776996DMRT1c.751T>C (p.Ser251Pro)
n.900T>C
c.277T>C (p.Ser93Pro)
c.799T>C (p.Ser267Pro)
c.587-22639T>C (n.587-22639T>C)
c.539-22639T>C (n.539-22639T>C)
c.205T>C (p.Ser69Pro)
dbSNP gnomAD v2 gnomAD v4
9g.894124T>GCA4961638DMRT1c.751T>G (p.Ser251Ala)
n.900T>G
c.277T>G (p.Ser93Ala)
c.799T>G (p.Ser267Ala)
c.587-22639T>G (n.587-22639T>G)
c.539-22639T>G (n.539-22639T>G)
c.205T>G (p.Ser69Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894124T=CA1827190837DMRT1c.751T= (p.Ser251=)
n.900T=
c.277T= (p.Ser93=)
c.799T= (p.Ser267=)
c.587-22639T= (n.587-22639T=)
c.539-22639T= (n.539-22639T=)
c.205T= (p.Ser69=)
9g.894125C>ACA4961639DMRT1c.752C>A (p.Ser251Tyr)
n.901C>A
c.278C>A (p.Ser93Tyr)
c.800C>A (p.Ser267Tyr)
c.587-22638C>A (n.587-22638C>A)
c.539-22638C>A (n.539-22638C>A)
c.206C>A (p.Ser69Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894125C=CA1827190839DMRT1c.752C= (p.Ser251=)
n.901C=
c.278C= (p.Ser93=)
c.800C= (p.Ser267=)
c.587-22638C= (n.587-22638C=)
c.539-22638C= (n.539-22638C=)
c.206C= (p.Ser69=)
9g.894125C>GCA372776999DMRT1c.752C>G (p.Ser251Cys)
n.901C>G
c.278C>G (p.Ser93Cys)
c.800C>G (p.Ser267Cys)
c.587-22638C>G (n.587-22638C>G)
c.539-22638C>G (n.539-22638C>G)
c.206C>G (p.Ser69Cys)
9g.894125C>TCA372776998DMRT1c.752C>T (p.Ser251Phe)
n.901C>T
c.278C>T (p.Ser93Phe)
c.800C>T (p.Ser267Phe)
c.587-22638C>T (n.587-22638C>T)
c.539-22638C>T (n.539-22638C>T)
c.206C>T (p.Ser69Phe)
gnomAD v4
9g.894126C>ACA463850483DMRT1c.753C>A (p.Ser251=)
n.902C>A
c.279C>A (p.Ser93=)
c.801C>A (p.Ser267=)
c.587-22637C>A (n.587-22637C>A)
c.539-22637C>A (n.539-22637C>A)
c.207C>A (p.Ser69=)
dbSNP gnomAD v4 COSMIC
9g.894126C=CA1827190841DMRT1c.753C= (p.Ser251=)
n.902C=
c.279C= (p.Ser93=)
c.801C= (p.Ser267=)
c.587-22637C= (n.587-22637C=)
c.539-22637C= (n.539-22637C=)
c.207C= (p.Ser69=)
9g.894126C>GCA463850484DMRT1c.753C>G (p.Ser251=)
n.902C>G
c.279C>G (p.Ser93=)
c.801C>G (p.Ser267=)
c.587-22637C>G (n.587-22637C>G)
c.539-22637C>G (n.539-22637C>G)
c.207C>G (p.Ser69=)
9g.894126C>TCA463850485DMRT1c.753C>T (p.Ser251=)
n.902C>T
c.279C>T (p.Ser93=)
c.801C>T (p.Ser267=)
c.587-22637C>T (n.587-22637C>T)
c.539-22637C>T (n.539-22637C>T)
c.207C>T (p.Ser69=)
ClinVar dbSNP gnomAD v4
9g.894127C>ACA372777001DMRT1c.754C>A (p.Pro252Thr)
n.903C>A
c.280C>A (p.Pro94Thr)
c.802C>A (p.Pro268Thr)
c.587-22636C>A (n.587-22636C>A)
c.539-22636C>A (n.539-22636C>A)
c.208C>A (p.Pro70Thr)
9g.894127C=CA1827190843DMRT1c.754C= (p.Pro252=)
n.903C=
c.280C= (p.Pro94=)
c.802C= (p.Pro268=)
c.587-22636C= (n.587-22636C=)
c.539-22636C= (n.539-22636C=)
c.208C= (p.Pro70=)
9g.894127C>GCA4961640DMRT1c.754C>G (p.Pro252Ala)
n.903C>G
c.280C>G (p.Pro94Ala)
c.802C>G (p.Pro268Ala)
c.587-22636C>G (n.587-22636C>G)
c.539-22636C>G (n.539-22636C>G)
c.208C>G (p.Pro70Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894127C>TCA372777003DMRT1c.754C>T (p.Pro252Ser)
n.903C>T
c.280C>T (p.Pro94Ser)
c.802C>T (p.Pro268Ser)
c.587-22636C>T (n.587-22636C>T)
c.539-22636C>T (n.539-22636C>T)
c.208C>T (p.Pro70Ser)
gnomAD v4 COSMIC
9g.894128C>ACA372777005DMRT1c.755C>A (p.Pro252His)
n.904C>A
c.281C>A (p.Pro94His)
c.803C>A (p.Pro268His)
c.587-22635C>A (n.587-22635C>A)
c.539-22635C>A (n.539-22635C>A)
c.209C>A (p.Pro70His)
gnomAD v4
9g.894128C=CA1827190845DMRT1c.755C= (p.Pro252=)
n.904C=
c.281C= (p.Pro94=)
c.803C= (p.Pro268=)
c.587-22635C= (n.587-22635C=)
c.539-22635C= (n.539-22635C=)
c.209C= (p.Pro70=)
9g.894128C>GCA372777006DMRT1c.755C>G (p.Pro252Arg)
n.904C>G
c.281C>G (p.Pro94Arg)
c.803C>G (p.Pro268Arg)
c.587-22635C>G (n.587-22635C>G)
c.539-22635C>G (n.539-22635C>G)
c.209C>G (p.Pro70Arg)
9g.894128C>TCA4961641DMRT1c.755C>T (p.Pro252Leu)
n.904C>T
c.281C>T (p.Pro94Leu)
c.803C>T (p.Pro268Leu)
c.587-22635C>T (n.587-22635C>T)
c.539-22635C>T (n.539-22635C>T)
c.209C>T (p.Pro70Leu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.894129T>ACA4961642DMRT1c.756T>A (p.Pro252=)
n.905T>A
c.282T>A (p.Pro94=)
c.804T>A (p.Pro268=)
c.587-22634T>A (n.587-22634T>A)
c.539-22634T>A (n.539-22634T>A)
c.210T>A (p.Pro70=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894129T>CCA463850487DMRT1c.756T>C (p.Pro252=)
n.905T>C
c.282T>C (p.Pro94=)
c.804T>C (p.Pro268=)
c.587-22634T>C (n.587-22634T>C)
c.539-22634T>C (n.539-22634T>C)
c.210T>C (p.Pro70=)
9g.894129T>GCA463850488DMRT1c.756T>G (p.Pro252=)
n.905T>G
c.282T>G (p.Pro94=)
c.804T>G (p.Pro268=)
c.587-22634T>G (n.587-22634T>G)
c.539-22634T>G (n.539-22634T>G)
c.210T>G (p.Pro70=)
dbSNP
9g.894129T=CA1827190847DMRT1c.756T= (p.Pro252=)
n.905T=
c.282T= (p.Pro94=)
c.804T= (p.Pro268=)
c.587-22634T= (n.587-22634T=)
c.539-22634T= (n.539-22634T=)
c.210T= (p.Pro70=)
9g.894130G>ACA372777008DMRT1c.757G>A (p.Val253Met)
n.906G>A
c.283G>A (p.Val95Met)
c.805G>A (p.Val269Met)
c.587-22633G>A (n.587-22633G>A)
c.539-22633G>A (n.539-22633G>A)
c.211G>A (p.Val71Met)
dbSNP
9g.894130G>CCA372777010DMRT1c.757G>C (p.Val253Leu)
n.906G>C
c.283G>C (p.Val95Leu)
c.805G>C (p.Val269Leu)
c.587-22633G>C (n.587-22633G>C)
c.539-22633G>C (n.539-22633G>C)
c.211G>C (p.Val71Leu)
9g.894130G=CA1827190849DMRT1c.757G= (p.Val253=)
n.906G=
c.283G= (p.Val95=)
c.805G= (p.Val269=)
c.587-22633G= (n.587-22633G=)
c.539-22633G= (n.539-22633G=)
c.211G= (p.Val71=)
9g.894130G>TCA372777011DMRT1c.757G>T (p.Val253Leu)
n.906G>T
c.283G>T (p.Val95Leu)
c.805G>T (p.Val269Leu)
c.587-22633G>T (n.587-22633G>T)
c.539-22633G>T (n.539-22633G>T)
c.211G>T (p.Val71Leu)
9g.894131T>ACA372777014DMRT1c.758T>A (p.Val253Glu)
n.907T>A
c.284T>A (p.Val95Glu)
c.806T>A (p.Val269Glu)
c.587-22632T>A (n.587-22632T>A)
c.539-22632T>A (n.539-22632T>A)
c.212T>A (p.Val71Glu)
9g.894131T>CCA372777015DMRT1c.758T>C (p.Val253Ala)
n.907T>C
c.284T>C (p.Val95Ala)
c.806T>C (p.Val269Ala)
c.587-22632T>C (n.587-22632T>C)
c.539-22632T>C (n.539-22632T>C)
c.212T>C (p.Val71Ala)
9g.894131T>GCA372777013DMRT1c.758T>G (p.Val253Gly)
n.907T>G
c.284T>G (p.Val95Gly)
c.806T>G (p.Val269Gly)
c.587-22632T>G (n.587-22632T>G)
c.539-22632T>G (n.539-22632T>G)
c.212T>G (p.Val71Gly)
9g.894132G>ACA463850492DMRT1c.759G>A (p.Val253=)
n.908G>A
c.285G>A (p.Val95=)
c.807G>A (p.Val269=)
c.587-22631G>A (n.587-22631G>A)
c.539-22631G>A (n.539-22631G>A)
c.213G>A (p.Val71=)
9g.894132G>CCA463850493DMRT1c.759G>C (p.Val253=)
n.908G>C
c.285G>C (p.Val95=)
c.807G>C (p.Val269=)
c.587-22631G>C (n.587-22631G>C)
c.539-22631G>C (n.539-22631G>C)
c.213G>C (p.Val71=)
9g.894132G>TCA463850495DMRT1c.759G>T (p.Val253=)
n.908G>T
c.285G>T (p.Val95=)
c.807G>T (p.Val269=)
c.587-22631G>T (n.587-22631G>T)
c.539-22631G>T (n.539-22631G>T)
c.213G>T (p.Val71=)
9g.894133A>CCA372777019DMRT1c.760A>C (p.Lys254Gln)
n.909A>C
c.286A>C (p.Lys96Gln)
c.808A>C (p.Lys270Gln)
c.587-22630A>C (n.587-22630A>C)
c.539-22630A>C (n.539-22630A>C)
c.214A>C (p.Lys72Gln)
gnomAD v4
9g.894133A>GCA372777017DMRT1c.760A>G (p.Lys254Glu)
n.909A>G
c.286A>G (p.Lys96Glu)
c.808A>G (p.Lys270Glu)
c.587-22630A>G (n.587-22630A>G)
c.539-22630A>G (n.539-22630A>G)
c.214A>G (p.Lys72Glu)
COSMIC
9g.894133A>TCA372777018DMRT1c.760A>T (p.Lys254Ter)
n.909A>T
c.286A>T (p.Lys96Ter)
c.808A>T (p.Lys270Ter)
c.587-22630A>T (n.587-22630A>T)
c.539-22630A>T (n.539-22630A>T)
c.214A>T (p.Lys72Ter)
9g.894134A=CA1827190851DMRT1c.761A= (p.Lys254=)
n.910A=
c.287A= (p.Lys96=)
c.809A= (p.Lys270=)
c.587-22629A= (n.587-22629A=)
c.539-22629A= (n.539-22629A=)
c.215A= (p.Lys72=)
9g.894134A>CCA4961643DMRT1c.761A>C (p.Lys254Thr)
n.910A>C
c.287A>C (p.Lys96Thr)
c.809A>C (p.Lys270Thr)
c.587-22629A>C (n.587-22629A>C)
c.539-22629A>C (n.539-22629A>C)
c.215A>C (p.Lys72Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894134A>GCA372777021DMRT1c.761A>G (p.Lys254Arg)
n.910A>G
c.287A>G (p.Lys96Arg)
c.809A>G (p.Lys270Arg)
c.587-22629A>G (n.587-22629A>G)
c.539-22629A>G (n.539-22629A>G)
c.215A>G (p.Lys72Arg)
9g.894134A>TCA372777023DMRT1c.761A>T (p.Lys254Met)
n.910A>T
c.287A>T (p.Lys96Met)
c.809A>T (p.Lys270Met)
c.587-22629A>T (n.587-22629A>T)
c.539-22629A>T (n.539-22629A>T)
c.215A>T (p.Lys72Met)
9g.894135G>ACA187865081DMRT1c.762G>A (p.Lys254=)
n.911G>A
c.288G>A (p.Lys96=)
c.810G>A (p.Lys270=)
c.587-22628G>A (n.587-22628G>A)
c.539-22628G>A (n.539-22628G>A)
c.216G>A (p.Lys72=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.894135G>CCA372777025DMRT1c.762G>C (p.Lys254Asn)
n.911G>C
c.288G>C (p.Lys96Asn)
c.810G>C (p.Lys270Asn)
c.587-22628G>C (n.587-22628G>C)
c.539-22628G>C (n.539-22628G>C)
c.216G>C (p.Lys72Asn)
9g.894135G=CA1827190852DMRT1c.762G= (p.Lys254=)
n.911G=
c.288G= (p.Lys96=)
c.810G= (p.Lys270=)
c.587-22628G= (n.587-22628G=)
c.539-22628G= (n.539-22628G=)
c.216G= (p.Lys72=)
9g.894135G>TCA372777027DMRT1c.762G>T (p.Lys254Asn)
n.911G>T
c.288G>T (p.Lys96Asn)
c.810G>T (p.Lys270Asn)
c.587-22628G>T (n.587-22628G>T)
c.539-22628G>T (n.539-22628G>T)
c.216G>T (p.Lys72Asn)
9g.894136A>CCA372777028DMRT1c.763A>C (p.Asn255His)
n.912A>C
c.289A>C (p.Asn97His)
c.811A>C (p.Asn271His)
c.587-22627A>C (n.587-22627A>C)
c.539-22627A>C (n.539-22627A>C)
c.217A>C (p.Asn73His)
9g.894136A>GCA372777030DMRT1c.763A>G (p.Asn255Asp)
n.912A>G
c.289A>G (p.Asn97Asp)
c.811A>G (p.Asn271Asp)
c.587-22627A>G (n.587-22627A>G)
c.539-22627A>G (n.539-22627A>G)
c.217A>G (p.Asn73Asp)
9g.894136A>TCA372777032DMRT1c.763A>T (p.Asn255Tyr)
n.912A>T
c.289A>T (p.Asn97Tyr)
c.811A>T (p.Asn271Tyr)
c.587-22627A>T (n.587-22627A>T)
c.539-22627A>T (n.539-22627A>T)
c.217A>T (p.Asn73Tyr)
9g.894136_894145delCA2689223427DMRT1c.763_772del (p.Asn255GlyfsTer18)
n.912_921del
c.289_298del (p.Asn97GlyfsTer18)
c.763_772del (p.Asn255GlyfsTer19)
c.811_820del (p.Asn271GlyfsTer19)
c.811_820del (p.Asn271GlyfsTer18)
c.811_820del (p.Asn271GlyfsTer?)
c.289_298del (p.Asn97GlyfsTer19)
c.587-22627_587-22618del (n.587-22627_587-22618del)
c.539-22627_539-22618del (n.539-22627_539-22618del)
c.217_226del (p.Asn73GlyfsTer18)
gnomAD v4
9g.894137A>CCA372777033DMRT1c.764A>C (p.Asn255Thr)
n.913A>C
c.290A>C (p.Asn97Thr)
c.812A>C (p.Asn271Thr)
c.587-22626A>C (n.587-22626A>C)
c.539-22626A>C (n.539-22626A>C)
c.218A>C (p.Asn73Thr)
9g.894137A>GCA372777034DMRT1c.764A>G (p.Asn255Ser)
n.913A>G
c.290A>G (p.Asn97Ser)
c.812A>G (p.Asn271Ser)
c.587-22626A>G (n.587-22626A>G)
c.539-22626A>G (n.539-22626A>G)
c.218A>G (p.Asn73Ser)
gnomAD v4
9g.894137A>TCA372777035DMRT1c.764A>T (p.Asn255Ile)
n.913A>T
c.290A>T (p.Asn97Ile)
c.812A>T (p.Asn271Ile)
c.587-22626A>T (n.587-22626A>T)
c.539-22626A>T (n.539-22626A>T)
c.218A>T (p.Asn73Ile)
COSMIC
9g.894138C>ACA372777039DMRT1c.765C>A (p.Asn255Lys)
n.914C>A
c.291C>A (p.Asn97Lys)
c.813C>A (p.Asn271Lys)
c.587-22625C>A (n.587-22625C>A)
c.539-22625C>A (n.539-22625C>A)
c.219C>A (p.Asn73Lys)
9g.894138C>GCA372777037DMRT1c.765C>G (p.Asn255Lys)
n.914C>G
c.291C>G (p.Asn97Lys)
c.813C>G (p.Asn271Lys)
c.587-22625C>G (n.587-22625C>G)
c.539-22625C>G (n.539-22625C>G)
c.219C>G (p.Asn73Lys)
9g.894138C>TCA463850507DMRT1c.765C>T (p.Asn255=)
n.914C>T
c.291C>T (p.Asn97=)
c.813C>T (p.Asn271=)
c.587-22625C>T (n.587-22625C>T)
c.539-22625C>T (n.539-22625C>T)
c.219C>T (p.Asn73=)
gnomAD v4
9g.894139A>CCA372777040DMRT1c.766A>C (p.Ser256Arg)
n.915A>C
c.292A>C (p.Ser98Arg)
c.814A>C (p.Ser272Arg)
c.587-22624A>C (n.587-22624A>C)
c.539-22624A>C (n.539-22624A>C)
c.220A>C (p.Ser74Arg)
9g.894139A>GCA372777041DMRT1c.766A>G (p.Ser256Gly)
n.915A>G
c.292A>G (p.Ser98Gly)
c.814A>G (p.Ser272Gly)
c.587-22624A>G (n.587-22624A>G)
c.539-22624A>G (n.539-22624A>G)
c.220A>G (p.Ser74Gly)
9g.894139A>TCA372777042DMRT1c.766A>T (p.Ser256Cys)
n.915A>T
c.292A>T (p.Ser98Cys)
c.814A>T (p.Ser272Cys)
c.587-22624A>T (n.587-22624A>T)
c.539-22624A>T (n.539-22624A>T)
c.220A>T (p.Ser74Cys)
9g.894140G>ACA4961644DMRT1c.767G>A (p.Ser256Asn)
n.916G>A
c.293G>A (p.Ser98Asn)
c.815G>A (p.Ser272Asn)
c.587-22623G>A (n.587-22623G>A)
c.539-22623G>A (n.539-22623G>A)
c.221G>A (p.Ser74Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894140G>CCA187865092DMRT1c.767G>C (p.Ser256Thr)
n.916G>C
c.293G>C (p.Ser98Thr)
c.815G>C (p.Ser272Thr)
c.587-22623G>C (n.587-22623G>C)
c.539-22623G>C (n.539-22623G>C)
c.221G>C (p.Ser74Thr)
dbSNP
9g.894140G=CA1827190854DMRT1c.767G= (p.Ser256=)
n.916G=
c.293G= (p.Ser98=)
c.815G= (p.Ser272=)
c.587-22623G= (n.587-22623G=)
c.539-22623G= (n.539-22623G=)
c.221G= (p.Ser74=)
9g.894140G>TCA372777043DMRT1c.767G>T (p.Ser256Ile)
n.916G>T
c.293G>T (p.Ser98Ile)
c.815G>T (p.Ser272Ile)
c.587-22623G>T (n.587-22623G>T)
c.539-22623G>T (n.539-22623G>T)
c.221G>T (p.Ser74Ile)
9g.894141C>ACA372777045DMRT1c.768C>A (p.Ser256Arg)
n.917C>A
c.294C>A (p.Ser98Arg)
c.816C>A (p.Ser272Arg)
c.587-22622C>A (n.587-22622C>A)
c.539-22622C>A (n.539-22622C>A)
c.222C>A (p.Ser74Arg)
gnomAD v4
9g.894141C=CA1827190857DMRT1c.768C= (p.Ser256=)
n.917C=
c.294C= (p.Ser98=)
c.816C= (p.Ser272=)
c.587-22622C= (n.587-22622C=)
c.539-22622C= (n.539-22622C=)
c.222C= (p.Ser74=)
9g.894141C>GCA4961645DMRT1c.768C>G (p.Ser256Arg)
n.917C>G
c.294C>G (p.Ser98Arg)
c.816C>G (p.Ser272Arg)
c.587-22622C>G (n.587-22622C>G)
c.539-22622C>G (n.539-22622C>G)
c.222C>G (p.Ser74Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894141C>TCA463850516DMRT1c.768C>T (p.Ser256=)
n.917C>T
c.294C>T (p.Ser98=)
c.816C>T (p.Ser272=)
c.587-22622C>T (n.587-22622C>T)
c.539-22622C>T (n.539-22622C>T)
c.222C>T (p.Ser74=)
9g.894142C>ACA372777048DMRT1c.769C>A (p.Leu257Ile)
n.918C>A
c.295C>A (p.Leu99Ile)
c.817C>A (p.Leu273Ile)
c.587-22621C>A (n.587-22621C>A)
c.539-22621C>A (n.539-22621C>A)
c.223C>A (p.Leu75Ile)
9g.894142C=CA1827190858DMRT1c.769C= (p.Leu257=)
n.918C=
c.295C= (p.Leu99=)
c.817C= (p.Leu273=)
c.587-22621C= (n.587-22621C=)
c.539-22621C= (n.539-22621C=)
c.223C= (p.Leu75=)
9g.894142C>GCA372777050DMRT1c.769C>G (p.Leu257Val)
n.918C>G
c.295C>G (p.Leu99Val)
c.817C>G (p.Leu273Val)
c.587-22621C>G (n.587-22621C>G)
c.539-22621C>G (n.539-22621C>G)
c.223C>G (p.Leu75Val)
dbSNP gnomAD v3 gnomAD v4
9g.894142C>TCA372777054DMRT1c.769C>T (p.Leu257Phe)
n.918C>T
c.295C>T (p.Leu99Phe)
c.817C>T (p.Leu273Phe)
c.587-22621C>T (n.587-22621C>T)
c.539-22621C>T (n.539-22621C>T)
c.223C>T (p.Leu75Phe)
9g.894143T>ACA372777056DMRT1c.770T>A (p.Leu257His)
n.919T>A
c.296T>A (p.Leu99His)
c.818T>A (p.Leu273His)
c.587-22620T>A (n.587-22620T>A)
c.539-22620T>A (n.539-22620T>A)
c.224T>A (p.Leu75His)
9g.894143T>CCA372777057DMRT1c.770T>C (p.Leu257Pro)
n.919T>C
c.296T>C (p.Leu99Pro)
c.818T>C (p.Leu273Pro)
c.587-22620T>C (n.587-22620T>C)
c.539-22620T>C (n.539-22620T>C)
c.224T>C (p.Leu75Pro)
9g.894143T>GCA372777058DMRT1c.770T>G (p.Leu257Arg)
n.919T>G
c.296T>G (p.Leu99Arg)
c.818T>G (p.Leu273Arg)
c.587-22620T>G (n.587-22620T>G)
c.539-22620T>G (n.539-22620T>G)
c.224T>G (p.Leu75Arg)
9g.894144T>ACA463850520DMRT1c.771T>A (p.Leu257=)
n.920T>A
c.297T>A (p.Leu99=)
c.819T>A (p.Leu273=)
c.587-22619T>A (n.587-22619T>A)
c.539-22619T>A (n.539-22619T>A)
c.225T>A (p.Leu75=)
COSMIC
9g.894144T>CCA463850518DMRT1c.771T>C (p.Leu257=)
n.920T>C
c.297T>C (p.Leu99=)
c.819T>C (p.Leu273=)
c.587-22619T>C (n.587-22619T>C)
c.539-22619T>C (n.539-22619T>C)
c.225T>C (p.Leu75=)
9g.894144T>GCA463850519DMRT1c.771T>G (p.Leu257=)
n.920T>G
c.297T>G (p.Leu99=)
c.819T>G (p.Leu273=)
c.587-22619T>G (n.587-22619T>G)
c.539-22619T>G (n.539-22619T>G)
c.225T>G (p.Leu75=)
9g.894145C>ACA187865116DMRT1c.772C>A (p.Arg258=)
n.921C>A
c.298C>A (p.Arg100=)
c.820C>A (p.Arg274=)
c.587-22618C>A (n.587-22618C>A)
c.539-22618C>A (n.539-22618C>A)
c.226C>A (p.Arg76=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894145C=CA1827190860DMRT1c.772C= (p.Arg258=)
n.921C=
c.298C= (p.Arg100=)
c.820C= (p.Arg274=)
c.587-22618C= (n.587-22618C=)
c.539-22618C= (n.539-22618C=)
c.226C= (p.Arg76=)
9g.894145C>GCA372777060DMRT1c.772C>G (p.Arg258Gly)
n.921C>G
c.298C>G (p.Arg100Gly)
c.820C>G (p.Arg274Gly)
c.587-22618C>G (n.587-22618C>G)
c.539-22618C>G (n.539-22618C>G)
c.226C>G (p.Arg76Gly)
gnomAD v4
9g.894145C>TCA4961646DMRT1c.772C>T (p.Arg258Trp)
n.921C>T
c.298C>T (p.Arg100Trp)
c.820C>T (p.Arg274Trp)
c.587-22618C>T (n.587-22618C>T)
c.539-22618C>T (n.539-22618C>T)
c.226C>T (p.Arg76Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.894146G>ACA372777063DMRT1c.773G>A (p.Arg258Gln)
n.922G>A
c.299G>A (p.Arg100Gln)
c.821G>A (p.Arg274Gln)
c.587-22617G>A (n.587-22617G>A)
c.539-22617G>A (n.539-22617G>A)
c.227G>A (p.Arg76Gln)
dbSNP
9g.894146G>CCA372777064DMRT1c.773G>C (p.Arg258Pro)
n.922G>C
c.299G>C (p.Arg100Pro)
c.821G>C (p.Arg274Pro)
c.587-22617G>C (n.587-22617G>C)
c.539-22617G>C (n.539-22617G>C)
c.227G>C (p.Arg76Pro)
dbSNP gnomAD v4
9g.894146G=CA1827190863DMRT1c.773G= (p.Arg258=)
n.922G=
c.299G= (p.Arg100=)
c.821G= (p.Arg274=)
c.587-22617G= (n.587-22617G=)
c.539-22617G= (n.539-22617G=)
c.227G= (p.Arg76=)
9g.894146G>TCA4961647DMRT1c.773G>T (p.Arg258Leu)
n.922G>T
c.299G>T (p.Arg100Leu)
c.821G>T (p.Arg274Leu)
c.587-22617G>T (n.587-22617G>T)
c.539-22617G>T (n.539-22617G>T)
c.227G>T (p.Arg76Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894149dupCA2689223436DMRT1c.776dup (p.Leu260ProfsTer?)
n.925dup
c.302dup (p.Leu102ProfsTer?)
c.824dup (p.Leu276ProfsTer?)
c.587-22614dup (n.587-22614dup)
c.539-22614dup (n.539-22614dup)
c.230dup (p.Leu78ProfsTer?)
gnomAD v4
9g.894149delCA463850525DMRT1c.776del (p.Gly259AlafsTer17)
n.925del
c.302del (p.Gly101AlafsTer17)
c.776del (p.Gly259AlafsTer18)
c.824del (p.Gly275AlafsTer18)
c.824del (p.Gly275AlafsTer17)
c.824del (p.Gly275AlafsTer?)
c.302del (p.Gly101AlafsTer18)
c.587-22614del (n.587-22614del)
c.539-22614del (n.539-22614del)
c.230del (p.Gly77AlafsTer17)
COSMIC
9g.894147G>ACA463850526DMRT1c.774G>A (p.Arg258=)
n.923G>A
c.300G>A (p.Arg100=)
c.822G>A (p.Arg274=)
c.587-22616G>A (n.587-22616G>A)
c.539-22616G>A (n.539-22616G>A)
c.228G>A (p.Arg76=)
9g.894147G>CCA4961648DMRT1c.774G>C (p.Arg258=)
n.923G>C
c.300G>C (p.Arg100=)
c.822G>C (p.Arg274=)
c.587-22616G>C (n.587-22616G>C)
c.539-22616G>C (n.539-22616G>C)
c.228G>C (p.Arg76=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894147G=CA1827190867DMRT1c.774G= (p.Arg258=)
n.923G=
c.300G= (p.Arg100=)
c.822G= (p.Arg274=)
c.587-22616G= (n.587-22616G=)
c.539-22616G= (n.539-22616G=)
c.228G= (p.Arg76=)
9g.894147G>TCA463850527DMRT1c.774G>T (p.Arg258=)
n.923G>T
c.300G>T (p.Arg100=)
c.822G>T (p.Arg274=)
c.587-22616G>T (n.587-22616G>T)
c.539-22616G>T (n.539-22616G>T)
c.228G>T (p.Arg76=)
9g.894148G>ACA372777066DMRT1c.775G>A (p.Gly259Ser)
n.924G>A
c.301G>A (p.Gly101Ser)
c.823G>A (p.Gly275Ser)
c.587-22615G>A (n.587-22615G>A)
c.539-22615G>A (n.539-22615G>A)
c.229G>A (p.Gly77Ser)
9g.894148G>CCA372777068DMRT1c.775G>C (p.Gly259Arg)
n.924G>C
c.301G>C (p.Gly101Arg)
c.823G>C (p.Gly275Arg)
c.587-22615G>C (n.587-22615G>C)
c.539-22615G>C (n.539-22615G>C)
c.229G>C (p.Gly77Arg)
9g.894148G>TCA372777071DMRT1c.775G>T (p.Gly259Cys)
n.924G>T
c.301G>T (p.Gly101Cys)
c.823G>T (p.Gly275Cys)
c.587-22615G>T (n.587-22615G>T)
c.539-22615G>T (n.539-22615G>T)
c.229G>T (p.Gly77Cys)
gnomAD v4
9g.894149G>ACA372777073DMRT1c.776G>A (p.Gly259Asp)
n.925G>A
c.302G>A (p.Gly101Asp)
c.824G>A (p.Gly275Asp)
c.587-22614G>A (n.587-22614G>A)
c.539-22614G>A (n.539-22614G>A)
c.230G>A (p.Gly77Asp)
dbSNP gnomAD v2 gnomAD v4
9g.894149G>CCA372777075DMRT1c.776G>C (p.Gly259Ala)
n.925G>C
c.302G>C (p.Gly101Ala)
c.824G>C (p.Gly275Ala)
c.587-22614G>C (n.587-22614G>C)
c.539-22614G>C (n.539-22614G>C)
c.230G>C (p.Gly77Ala)
gnomAD v4
9g.894149G=CA1827190869DMRT1c.776G= (p.Gly259=)
n.925G=
c.302G= (p.Gly101=)
c.824G= (p.Gly275=)
c.587-22614G= (n.587-22614G=)
c.539-22614G= (n.539-22614G=)
c.230G= (p.Gly77=)
9g.894149G>TCA4961649DMRT1c.776G>T (p.Gly259Val)
n.925G>T
c.302G>T (p.Gly101Val)
c.824G>T (p.Gly275Val)
c.587-22614G>T (n.587-22614G>T)
c.539-22614G>T (n.539-22614G>T)
c.230G>T (p.Gly77Val)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894149_894152delCA2689223444DMRT1c.776_779del (p.Gly259AlafsTer16)
n.925_928del
c.302_305del (p.Gly101AlafsTer16)
c.776_779del (p.Gly259AlafsTer17)
c.824_827del (p.Gly275AlafsTer17)
c.824_827del (p.Gly275AlafsTer16)
c.824_827del (p.Gly275AlafsTer?)
c.302_305del (p.Gly101AlafsTer17)
c.587-22614_587-22611del (n.587-22614_587-22611del)
c.539-22614_539-22611del (n.539-22614_539-22611del)
c.230_233del (p.Gly77AlafsTer16)
gnomAD v4
9g.894150C>ACA463850535DMRT1c.777C>A (p.Gly259=)
n.926C>A
c.303C>A (p.Gly101=)
c.825C>A (p.Gly275=)
c.587-22613C>A (n.587-22613C>A)
c.539-22613C>A (n.539-22613C>A)
c.231C>A (p.Gly77=)
9g.894150C=CA1827190871DMRT1c.777C= (p.Gly259=)
n.926C=
c.303C= (p.Gly101=)
c.825C= (p.Gly275=)
c.587-22613C= (n.587-22613C=)
c.539-22613C= (n.539-22613C=)
c.231C= (p.Gly77=)
9g.894150C>GCA463850537DMRT1c.777C>G (p.Gly259=)
n.926C>G
c.303C>G (p.Gly101=)
c.825C>G (p.Gly275=)
c.587-22613C>G (n.587-22613C>G)
c.539-22613C>G (n.539-22613C>G)
c.231C>G (p.Gly77=)
9g.894150C>TCA463850539DMRT1c.777C>T (p.Gly259=)
n.926C>T
c.303C>T (p.Gly101=)
c.825C>T (p.Gly275=)
c.587-22613C>T (n.587-22613C>T)
c.539-22613C>T (n.539-22613C>T)
c.231C>T (p.Gly77=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894151C>ACA372777077DMRT1c.778C>A (p.Leu260Ile)
n.927C>A
c.304C>A (p.Leu102Ile)
c.826C>A (p.Leu276Ile)
c.587-22612C>A (n.587-22612C>A)
c.539-22612C>A (n.539-22612C>A)
c.232C>A (p.Leu78Ile)
9g.894151C>GCA372777079DMRT1c.778C>G (p.Leu260Val)
n.927C>G
c.304C>G (p.Leu102Val)
c.826C>G (p.Leu276Val)
c.587-22612C>G (n.587-22612C>G)
c.539-22612C>G (n.539-22612C>G)
c.232C>G (p.Leu78Val)
9g.894151C>TCA372777080DMRT1c.778C>T (p.Leu260Phe)
n.927C>T
c.304C>T (p.Leu102Phe)
c.826C>T (p.Leu276Phe)
c.587-22612C>T (n.587-22612C>T)
c.539-22612C>T (n.539-22612C>T)
c.232C>T (p.Leu78Phe)
9g.894152T>ACA372777085DMRT1c.779T>A (p.Leu260His)
n.928T>A
c.305T>A (p.Leu102His)
c.827T>A (p.Leu276His)
c.587-22611T>A (n.587-22611T>A)
c.539-22611T>A (n.539-22611T>A)
c.233T>A (p.Leu78His)
9g.894152T>CCA372777087DMRT1c.779T>C (p.Leu260Pro)
n.928T>C
c.305T>C (p.Leu102Pro)
c.827T>C (p.Leu276Pro)
c.587-22611T>C (n.587-22611T>C)
c.539-22611T>C (n.539-22611T>C)
c.233T>C (p.Leu78Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894152T>GCA372777082DMRT1c.779T>G (p.Leu260Arg)
n.928T>G
c.305T>G (p.Leu102Arg)
c.827T>G (p.Leu276Arg)
c.587-22611T>G (n.587-22611T>G)
c.539-22611T>G (n.539-22611T>G)
c.233T>G (p.Leu78Arg)
gnomAD v4
9g.894152T=CA1827190873DMRT1c.779T= (p.Leu260=)
n.928T=
c.305T= (p.Leu102=)
c.827T= (p.Leu276=)
c.587-22611T= (n.587-22611T=)
c.539-22611T= (n.539-22611T=)
c.233T= (p.Leu78=)
9g.894153C>ACA463850552DMRT1c.780C>A (p.Leu260=)
n.929C>A
c.306C>A (p.Leu102=)
c.828C>A (p.Leu276=)
c.587-22610C>A (n.587-22610C>A)
c.539-22610C>A (n.539-22610C>A)
c.234C>A (p.Leu78=)
9g.894153C=CA1827190875DMRT1c.780C= (p.Leu260=)
n.929C=
c.306C= (p.Leu102=)
c.828C= (p.Leu276=)
c.587-22610C= (n.587-22610C=)
c.539-22610C= (n.539-22610C=)
c.234C= (p.Leu78=)
9g.894153C>GCA463850553DMRT1c.780C>G (p.Leu260=)
n.929C>G
c.306C>G (p.Leu102=)
c.828C>G (p.Leu276=)
c.587-22610C>G (n.587-22610C>G)
c.539-22610C>G (n.539-22610C>G)
c.234C>G (p.Leu78=)
9g.894153C>TCA463850554DMRT1c.780C>T (p.Leu260=)
n.929C>T
c.306C>T (p.Leu102=)
c.828C>T (p.Leu276=)
c.587-22610C>T (n.587-22610C>T)
c.539-22610C>T (n.539-22610C>T)
c.234C>T (p.Leu78=)
dbSNP gnomAD v4
9g.894154C>ACA372777090DMRT1c.781C>A (p.Pro261Thr)
n.930C>A
c.307C>A (p.Pro103Thr)
c.829C>A (p.Pro277Thr)
c.587-22609C>A (n.587-22609C>A)
c.539-22609C>A (n.539-22609C>A)
c.235C>A (p.Pro79Thr)
9g.894154C=CA1827190877DMRT1c.781C= (p.Pro261=)
n.930C=
c.307C= (p.Pro103=)
c.829C= (p.Pro277=)
c.587-22609C= (n.587-22609C=)
c.539-22609C= (n.539-22609C=)
c.235C= (p.Pro79=)
9g.894154C>GCA372777091DMRT1c.781C>G (p.Pro261Ala)
n.930C>G
c.307C>G (p.Pro103Ala)
c.829C>G (p.Pro277Ala)
c.587-22609C>G (n.587-22609C>G)
c.539-22609C>G (n.539-22609C>G)
c.235C>G (p.Pro79Ala)
dbSNP
9g.894154C>TCA187865123DMRT1c.781C>T (p.Pro261Ser)
n.930C>T
c.307C>T (p.Pro103Ser)
c.829C>T (p.Pro277Ser)
c.587-22609C>T (n.587-22609C>T)
c.539-22609C>T (n.539-22609C>T)
c.235C>T (p.Pro79Ser)
dbSNP gnomAD v4
9g.894155C>ACA372777095DMRT1c.782C>A (p.Pro261His)
n.931C>A
c.308C>A (p.Pro103His)
c.830C>A (p.Pro277His)
c.587-22608C>A (n.587-22608C>A)
c.539-22608C>A (n.539-22608C>A)
c.236C>A (p.Pro79His)
9g.894155C>GCA372777096DMRT1c.782C>G (p.Pro261Arg)
n.931C>G
c.308C>G (p.Pro103Arg)
c.830C>G (p.Pro277Arg)
c.587-22608C>G (n.587-22608C>G)
c.539-22608C>G (n.539-22608C>G)
c.236C>G (p.Pro79Arg)
9g.894155C>TCA372777098DMRT1c.782C>T (p.Pro261Leu)
n.931C>T
c.308C>T (p.Pro103Leu)
c.830C>T (p.Pro277Leu)
c.587-22608C>T (n.587-22608C>T)
c.539-22608C>T (n.539-22608C>T)
c.236C>T (p.Pro79Leu)
9g.894156C>ACA463850560DMRT1c.783C>A (p.Pro261=)
n.932C>A
c.309C>A (p.Pro103=)
c.831C>A (p.Pro277=)
c.587-22607C>A (n.587-22607C>A)
c.539-22607C>A (n.539-22607C>A)
c.237C>A (p.Pro79=)
9g.894156C=CA1827190881DMRT1c.783C= (p.Pro261=)
n.932C=
c.309C= (p.Pro103=)
c.831C= (p.Pro277=)
c.587-22607C= (n.587-22607C=)
c.539-22607C= (n.539-22607C=)
c.237C= (p.Pro79=)
9g.894156C>GCA4961651DMRT1c.783C>G (p.Pro261=)
n.932C>G
c.309C>G (p.Pro103=)
c.831C>G (p.Pro277=)
c.587-22607C>G (n.587-22607C>G)
c.539-22607C>G (n.539-22607C>G)
c.237C>G (p.Pro79=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894156C>TCA4961650DMRT1c.783C>T (p.Pro261=)
n.932C>T
c.309C>T (p.Pro103=)
c.831C>T (p.Pro277=)
c.587-22607C>T (n.587-22607C>T)
c.539-22607C>T (n.539-22607C>T)
c.237C>T (p.Pro79=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894157G>ACA4961652DMRT1c.784G>A (p.Gly262Arg)
n.933G>A
c.310G>A (p.Gly104Arg)
c.832G>A (p.Gly278Arg)
c.587-22606G>A (n.587-22606G>A)
c.539-22606G>A (n.539-22606G>A)
c.238G>A (p.Gly80Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.894157G>CCA372777102DMRT1c.784G>C (p.Gly262Arg)
n.933G>C
c.310G>C (p.Gly104Arg)
c.832G>C (p.Gly278Arg)
c.587-22606G>C (n.587-22606G>C)
c.539-22606G>C (n.539-22606G>C)
c.238G>C (p.Gly80Arg)
9g.894157G=CA1827190883DMRT1c.784G= (p.Gly262=)
n.933G=
c.310G= (p.Gly104=)
c.832G= (p.Gly278=)
c.587-22606G= (n.587-22606G=)
c.539-22606G= (n.539-22606G=)
c.238G= (p.Gly80=)
9g.894157G>TCA372777103DMRT1c.784G>T (p.Gly262Ter)
n.933G>T
c.310G>T (p.Gly104Ter)
c.832G>T (p.Gly278Ter)
c.587-22606G>T (n.587-22606G>T)
c.539-22606G>T (n.539-22606G>T)
c.238G>T (p.Gly80Ter)
9g.894158G>ACA372777105DMRT1c.785G>A (p.Gly262Glu)
n.934G>A
c.311G>A (p.Gly104Glu)
c.833G>A (p.Gly278Glu)
c.587-22605G>A (n.587-22605G>A)
c.539-22605G>A (n.539-22605G>A)
c.239G>A (p.Gly80Glu)
9g.894158G>CCA372777106DMRT1c.785G>C (p.Gly262Ala)
n.934G>C
c.311G>C (p.Gly104Ala)
c.833G>C (p.Gly278Ala)
c.587-22605G>C (n.587-22605G>C)
c.539-22605G>C (n.539-22605G>C)
c.239G>C (p.Gly80Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894158G=CA1827190885DMRT1c.785G= (p.Gly262=)
n.934G=
c.311G= (p.Gly104=)
c.833G= (p.Gly278=)
c.587-22605G= (n.587-22605G=)
c.539-22605G= (n.539-22605G=)
c.239G= (p.Gly80=)
9g.894158G>TCA372777107DMRT1c.785G>T (p.Gly262Val)
n.934G>T
c.311G>T (p.Gly104Val)
c.833G>T (p.Gly278Val)
c.587-22605G>T (n.587-22605G>T)
c.539-22605G>T (n.539-22605G>T)
c.239G>T (p.Gly80Val)
9g.894159A>CCA463850569DMRT1c.786A>C (p.Gly262=)
n.935A>C
c.312A>C (p.Gly104=)
c.834A>C (p.Gly278=)
c.587-22604A>C (n.587-22604A>C)
c.539-22604A>C (n.539-22604A>C)
c.240A>C (p.Gly80=)
9g.894159A>GCA463850573DMRT1c.786A>G (p.Gly262=)
n.935A>G
c.312A>G (p.Gly104=)
c.834A>G (p.Gly278=)
c.587-22604A>G (n.587-22604A>G)
c.539-22604A>G (n.539-22604A>G)
c.240A>G (p.Gly80=)
9g.894159A>TCA463850572DMRT1c.786A>T (p.Gly262=)
n.935A>T
c.312A>T (p.Gly104=)
c.834A>T (p.Gly278=)
c.587-22604A>T (n.587-22604A>T)
c.539-22604A>T (n.539-22604A>T)
c.240A>T (p.Gly80=)
9g.894160C>ACA372777109DMRT1c.787C>A (p.Pro263Thr)
n.936C>A
c.313C>A (p.Pro105Thr)
c.835C>A (p.Pro279Thr)
c.587-22603C>A (n.587-22603C>A)
c.539-22603C>A (n.539-22603C>A)
c.241C>A (p.Pro81Thr)
9g.894160C>GCA372777110DMRT1c.787C>G (p.Pro263Ala)
n.936C>G
c.313C>G (p.Pro105Ala)
c.835C>G (p.Pro279Ala)
c.587-22603C>G (n.587-22603C>G)
c.539-22603C>G (n.539-22603C>G)
c.241C>G (p.Pro81Ala)
gnomAD v4
9g.894160C>TCA372777108DMRT1c.787C>T (p.Pro263Ser)
n.936C>T
c.313C>T (p.Pro105Ser)
c.835C>T (p.Pro279Ser)
c.587-22603C>T (n.587-22603C>T)
c.539-22603C>T (n.539-22603C>T)
c.241C>T (p.Pro81Ser)
9g.894163_894171delCA463850575DMRT1c.790_798del (p.Tyr264_Pro266del)
n.939_947del
c.316_324del (p.Tyr106_Pro108del)
c.838_846del (p.Tyr280_Pro282del)
c.587-22600_587-22592del (n.587-22600_587-22592del)
c.539-22600_539-22592del (n.539-22600_539-22592del)
c.244_252del (p.Tyr82_Pro84del)
9g.894161C>ACA372777112DMRT1c.788C>A (p.Pro263His)
n.937C>A
c.314C>A (p.Pro105His)
c.836C>A (p.Pro279His)
c.587-22602C>A (n.587-22602C>A)
c.539-22602C>A (n.539-22602C>A)
c.242C>A (p.Pro81His)
9g.894161C>GCA372777111DMRT1c.788C>G (p.Pro263Arg)
n.937C>G
c.314C>G (p.Pro105Arg)
c.836C>G (p.Pro279Arg)
c.587-22602C>G (n.587-22602C>G)
c.539-22602C>G (n.539-22602C>G)
c.242C>G (p.Pro81Arg)
9g.894161C>TCA372777114DMRT1c.788C>T (p.Pro263Leu)
n.937C>T
c.314C>T (p.Pro105Leu)
c.836C>T (p.Pro279Leu)
c.587-22602C>T (n.587-22602C>T)
c.539-22602C>T (n.539-22602C>T)
c.242C>T (p.Pro81Leu)
9g.894162T>ACA463850583DMRT1c.789T>A (p.Pro263=)
n.938T>A
c.315T>A (p.Pro105=)
c.837T>A (p.Pro279=)
c.587-22601T>A (n.587-22601T>A)
c.539-22601T>A (n.539-22601T>A)
c.243T>A (p.Pro81=)
9g.894162T>CCA463850584DMRT1c.789T>C (p.Pro263=)
n.938T>C
c.315T>C (p.Pro105=)
c.837T>C (p.Pro279=)
c.587-22601T>C (n.587-22601T>C)
c.539-22601T>C (n.539-22601T>C)
c.243T>C (p.Pro81=)
9g.894162T>GCA4961653DMRT1c.789T>G (p.Pro263=)
n.938T>G
c.315T>G (p.Pro105=)
c.837T>G (p.Pro279=)
c.587-22601T>G (n.587-22601T>G)
c.539-22601T>G (n.539-22601T>G)
c.243T>G (p.Pro81=)
dbSNP ExAC gnomAD v2
9g.894162T=CA1827190887DMRT1c.789T= (p.Pro263=)
n.938T=
c.315T= (p.Pro105=)
c.837T= (p.Pro279=)
c.587-22601T= (n.587-22601T=)
c.539-22601T= (n.539-22601T=)
c.243T= (p.Pro81=)
9g.894163_894165delCA2579288533DMRT1c.790_792del (p.Tyr264del)
n.939_941del
c.316_318del (p.Tyr106del)
c.838_840del (p.Tyr280del)
c.587-22600_587-22598del (n.587-22600_587-22598del)
c.539-22600_539-22598del (n.539-22600_539-22598del)
c.244_246del (p.Tyr82del)
gnomAD v4
9g.894163T>ACA372777118DMRT1c.790T>A (p.Tyr264Asn)
n.939T>A
c.316T>A (p.Tyr106Asn)
c.838T>A (p.Tyr280Asn)
c.587-22600T>A (n.587-22600T>A)
c.539-22600T>A (n.539-22600T>A)
c.244T>A (p.Tyr82Asn)
9g.894163T>CCA4961654DMRT1c.790T>C (p.Tyr264His)
n.939T>C
c.316T>C (p.Tyr106His)
c.838T>C (p.Tyr280His)
c.587-22600T>C (n.587-22600T>C)
c.539-22600T>C (n.539-22600T>C)
c.244T>C (p.Tyr82His)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894163T>GCA372777120DMRT1c.790T>G (p.Tyr264Asp)
n.939T>G
c.316T>G (p.Tyr106Asp)
c.838T>G (p.Tyr280Asp)
c.587-22600T>G (n.587-22600T>G)
c.539-22600T>G (n.539-22600T>G)
c.244T>G (p.Tyr82Asp)
dbSNP gnomAD v3 gnomAD v4
9g.894163T=CA1827190889DMRT1c.790T= (p.Tyr264=)
n.939T=
c.316T= (p.Tyr106=)
c.838T= (p.Tyr280=)
c.587-22600T= (n.587-22600T=)
c.539-22600T= (n.539-22600T=)
c.244T= (p.Tyr82=)
9g.894164A>CCA372777122DMRT1c.791A>C (p.Tyr264Ser)
n.940A>C
c.317A>C (p.Tyr106Ser)
c.839A>C (p.Tyr280Ser)
c.587-22599A>C (n.587-22599A>C)
c.539-22599A>C (n.539-22599A>C)
c.245A>C (p.Tyr82Ser)
9g.894164A>GCA372777124DMRT1c.791A>G (p.Tyr264Cys)
n.940A>G
c.317A>G (p.Tyr106Cys)
c.839A>G (p.Tyr280Cys)
c.587-22599A>G (n.587-22599A>G)
c.539-22599A>G (n.539-22599A>G)
c.245A>G (p.Tyr82Cys)
9g.894164A>TCA372777125DMRT1c.791A>T (p.Tyr264Phe)
n.940A>T
c.317A>T (p.Tyr106Phe)
c.839A>T (p.Tyr280Phe)
c.587-22599A>T (n.587-22599A>T)
c.539-22599A>T (n.539-22599A>T)
c.245A>T (p.Tyr82Phe)
ClinVar dbSNP
9g.894165T>ACA372777127DMRT1c.792T>A (p.Tyr264Ter)
n.941T>A
c.318T>A (p.Tyr106Ter)
c.840T>A (p.Tyr280Ter)
c.587-22598T>A (n.587-22598T>A)
c.539-22598T>A (n.539-22598T>A)
c.246T>A (p.Tyr82Ter)
9g.894165T>CCA463850594DMRT1c.792T>C (p.Tyr264=)
n.941T>C
c.318T>C (p.Tyr106=)
c.840T>C (p.Tyr280=)
c.587-22598T>C (n.587-22598T>C)
c.539-22598T>C (n.539-22598T>C)
c.246T>C (p.Tyr82=)
gnomAD v4
9g.894165T>GCA372777129DMRT1c.792T>G (p.Tyr264Ter)
n.941T>G
c.318T>G (p.Tyr106Ter)
c.840T>G (p.Tyr280Ter)
c.587-22598T>G (n.587-22598T>G)
c.539-22598T>G (n.539-22598T>G)
c.246T>G (p.Tyr82Ter)
9g.894166G>ACA4961655DMRT1c.793G>A (p.Val265Met)
n.942G>A
c.319G>A (p.Val107Met)
c.841G>A (p.Val281Met)
c.587-22597G>A (n.587-22597G>A)
c.539-22597G>A (n.539-22597G>A)
c.247G>A (p.Val83Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894166G>CCA372777131DMRT1c.793G>C (p.Val265Leu)
n.942G>C
c.319G>C (p.Val107Leu)
c.841G>C (p.Val281Leu)
c.587-22597G>C (n.587-22597G>C)
c.539-22597G>C (n.539-22597G>C)
c.247G>C (p.Val83Leu)
9g.894166G=CA1827190891DMRT1c.793G= (p.Val265=)
n.942G=
c.319G= (p.Val107=)
c.841G= (p.Val281=)
c.587-22597G= (n.587-22597G=)
c.539-22597G= (n.539-22597G=)
c.247G= (p.Val83=)
9g.894166G>TCA372777133DMRT1c.793G>T (p.Val265Leu)
n.942G>T
c.319G>T (p.Val107Leu)
c.841G>T (p.Val281Leu)
c.587-22597G>T (n.587-22597G>T)
c.539-22597G>T (n.539-22597G>T)
c.247G>T (p.Val83Leu)
gnomAD v4
9g.894167T>ACA372777134DMRT1c.794T>A (p.Val265Glu)
n.943T>A
c.320T>A (p.Val107Glu)
c.842T>A (p.Val281Glu)
c.587-22596T>A (n.587-22596T>A)
c.539-22596T>A (n.539-22596T>A)
c.248T>A (p.Val83Glu)
9g.894167T>CCA372777135DMRT1c.794T>C (p.Val265Ala)
n.943T>C
c.320T>C (p.Val107Ala)
c.842T>C (p.Val281Ala)
c.587-22596T>C (n.587-22596T>C)
c.539-22596T>C (n.539-22596T>C)
c.248T>C (p.Val83Ala)
9g.894167T>GCA372777137DMRT1c.794T>G (p.Val265Gly)
n.943T>G
c.320T>G (p.Val107Gly)
c.842T>G (p.Val281Gly)
c.587-22596T>G (n.587-22596T>G)
c.539-22596T>G (n.539-22596T>G)
c.248T>G (p.Val83Gly)
9g.894168G>ACA4961656DMRT1c.795G>A (p.Val265=)
n.944G>A
c.321G>A (p.Val107=)
c.843G>A (p.Val281=)
c.587-22595G>A (n.587-22595G>A)
c.539-22595G>A (n.539-22595G>A)
c.249G>A (p.Val83=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894168G>CCA4961657DMRT1c.795G>C (p.Val265=)
n.944G>C
c.321G>C (p.Val107=)
c.843G>C (p.Val281=)
c.587-22595G>C (n.587-22595G>C)
c.539-22595G>C (n.539-22595G>C)
c.249G>C (p.Val83=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894168G=CA1827190893DMRT1c.795G= (p.Val265=)
n.944G=
c.321G= (p.Val107=)
c.843G= (p.Val281=)
c.587-22595G= (n.587-22595G=)
c.539-22595G= (n.539-22595G=)
c.249G= (p.Val83=)
9g.894168G>TCA463850608DMRT1c.795G>T (p.Val265=)
n.944G>T
c.321G>T (p.Val107=)
c.843G>T (p.Val281=)
c.587-22595G>T (n.587-22595G>T)
c.539-22595G>T (n.539-22595G>T)
c.249G>T (p.Val83=)
dbSNP
9g.894169C>ACA372777139DMRT1c.796C>A (p.Pro266Thr)
n.945C>A
c.322C>A (p.Pro108Thr)
c.844C>A (p.Pro282Thr)
c.587-22594C>A (n.587-22594C>A)
c.539-22594C>A (n.539-22594C>A)
c.250C>A (p.Pro84Thr)
9g.894169C>GCA372777141DMRT1c.796C>G (p.Pro266Ala)
n.945C>G
c.322C>G (p.Pro108Ala)
c.844C>G (p.Pro282Ala)
c.587-22594C>G (n.587-22594C>G)
c.539-22594C>G (n.539-22594C>G)
c.250C>G (p.Pro84Ala)
9g.894169C>TCA372777140DMRT1c.796C>T (p.Pro266Ser)
n.945C>T
c.322C>T (p.Pro108Ser)
c.844C>T (p.Pro282Ser)
c.587-22594C>T (n.587-22594C>T)
c.539-22594C>T (n.539-22594C>T)
c.250C>T (p.Pro84Ser)
9g.894170C>ACA372777143DMRT1c.797C>A (p.Pro266His)
n.946C>A
c.323C>A (p.Pro108His)
c.845C>A (p.Pro282His)
c.587-22593C>A (n.587-22593C>A)
c.539-22593C>A (n.539-22593C>A)
c.251C>A (p.Pro84His)
9g.894170C=CA1827190896DMRT1c.797C= (p.Pro266=)
n.946C=
c.323C= (p.Pro108=)
c.845C= (p.Pro282=)
c.587-22593C= (n.587-22593C=)
c.539-22593C= (n.539-22593C=)
c.251C= (p.Pro84=)
9g.894170C>GCA4961658DMRT1c.797C>G (p.Pro266Arg)
n.946C>G
c.323C>G (p.Pro108Arg)
c.845C>G (p.Pro282Arg)
c.587-22593C>G (n.587-22593C>G)
c.539-22593C>G (n.539-22593C>G)
c.251C>G (p.Pro84Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894170C>TCA372777145DMRT1c.797C>T (p.Pro266Leu)
n.946C>T
c.323C>T (p.Pro108Leu)
c.845C>T (p.Pro282Leu)
c.587-22593C>T (n.587-22593C>T)
c.539-22593C>T (n.539-22593C>T)
c.251C>T (p.Pro84Leu)
9g.894171T>ACA463850618DMRT1c.798T>A (p.Pro266=)
n.947T>A
c.324T>A (p.Pro108=)
c.846T>A (p.Pro282=)
c.587-22592T>A (n.587-22592T>A)
c.539-22592T>A (n.539-22592T>A)
c.252T>A (p.Pro84=)
9g.894171T>CCA463850619DMRT1c.798T>C (p.Pro266=)
n.947T>C
c.324T>C (p.Pro108=)
c.846T>C (p.Pro282=)
c.587-22592T>C (n.587-22592T>C)
c.539-22592T>C (n.539-22592T>C)
c.252T>C (p.Pro84=)
dbSNP gnomAD v4
9g.894171T>GCA463850621DMRT1c.798T>G (p.Pro266=)
n.947T>G
c.324T>G (p.Pro108=)
c.846T>G (p.Pro282=)
c.587-22592T>G (n.587-22592T>G)
c.539-22592T>G (n.539-22592T>G)
c.252T>G (p.Pro84=)
9g.894171T=CA1827190898DMRT1c.798T= (p.Pro266=)
n.947T=
c.324T= (p.Pro108=)
c.846T= (p.Pro282=)
c.587-22592T= (n.587-22592T=)
c.539-22592T= (n.539-22592T=)
c.252T= (p.Pro84=)
9g.894172G>ACA372777147DMRT1c.799G>A (p.Gly267Ser)
n.948G>A
c.325G>A (p.Gly109Ser)
c.847G>A (p.Gly283Ser)
c.587-22591G>A (n.587-22591G>A)
c.539-22591G>A (n.539-22591G>A)
c.253G>A (p.Gly85Ser)
9g.894172G>CCA372777148DMRT1c.799G>C (p.Gly267Arg)
n.948G>C
c.325G>C (p.Gly109Arg)
c.847G>C (p.Gly283Arg)
c.587-22591G>C (n.587-22591G>C)
c.539-22591G>C (n.539-22591G>C)
c.253G>C (p.Gly85Arg)
9g.894172G>TCA372777150DMRT1c.799G>T (p.Gly267Cys)
n.948G>T
c.325G>T (p.Gly109Cys)
c.847G>T (p.Gly283Cys)
c.587-22591G>T (n.587-22591G>T)
c.539-22591G>T (n.539-22591G>T)
c.253G>T (p.Gly85Cys)
dbSNP
9g.894173G>ACA4961659DMRT1c.800G>A (p.Gly267Asp)
n.949G>A
c.326G>A (p.Gly109Asp)
c.848G>A (p.Gly283Asp)
c.587-22590G>A (n.587-22590G>A)
c.539-22590G>A (n.539-22590G>A)
c.254G>A (p.Gly85Asp)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.894173G>CCA372777154DMRT1c.800G>C (p.Gly267Ala)
n.949G>C
c.326G>C (p.Gly109Ala)
c.848G>C (p.Gly283Ala)
c.587-22590G>C (n.587-22590G>C)
c.539-22590G>C (n.539-22590G>C)
c.254G>C (p.Gly85Ala)
9g.894173G=CA1827190900DMRT1c.800G= (p.Gly267=)
n.949G=
c.326G= (p.Gly109=)
c.848G= (p.Gly283=)
c.587-22590G= (n.587-22590G=)
c.539-22590G= (n.539-22590G=)
c.254G= (p.Gly85=)
9g.894173G>TCA372777155DMRT1c.800G>T (p.Gly267Val)
n.949G>T
c.326G>T (p.Gly109Val)
c.848G>T (p.Gly283Val)
c.587-22590G>T (n.587-22590G>T)
c.539-22590G>T (n.539-22590G>T)
c.254G>T (p.Gly85Val)
dbSNP gnomAD v4
9g.894174T>ACA463850631DMRT1c.801T>A (p.Gly267=)
n.950T>A
c.327T>A (p.Gly109=)
c.849T>A (p.Gly283=)
c.587-22589T>A (n.587-22589T>A)
c.539-22589T>A (n.539-22589T>A)
c.255T>A (p.Gly85=)
9g.894174T>CCA4961660DMRT1c.801T>C (p.Gly267=)
n.950T>C
c.327T>C (p.Gly109=)
c.849T>C (p.Gly283=)
c.587-22589T>C (n.587-22589T>C)
c.539-22589T>C (n.539-22589T>C)
c.255T>C (p.Gly85=)
dbSNP ExAC gnomAD v2
9g.894174T>GCA463850630DMRT1c.801T>G (p.Gly267=)
n.950T>G
c.327T>G (p.Gly109=)
c.849T>G (p.Gly283=)
c.587-22589T>G (n.587-22589T>G)
c.539-22589T>G (n.539-22589T>G)
c.255T>G (p.Gly85=)
dbSNP gnomAD v2 gnomAD v4
9g.894174T=CA1827190902DMRT1c.801T= (p.Gly267=)
n.950T=
c.327T= (p.Gly109=)
c.849T= (p.Gly283=)
c.587-22589T= (n.587-22589T=)
c.539-22589T= (n.539-22589T=)
c.255T= (p.Gly85=)
9g.894175C>ACA372777160DMRT1c.802C>A (p.Gln268Lys)
n.951C>A
c.328C>A (p.Gln110Lys)
c.850C>A (p.Gln284Lys)
c.587-22588C>A (n.587-22588C>A)
c.539-22588C>A (n.539-22588C>A)
c.256C>A (p.Gln86Lys)
9g.894175C=CA1827190905DMRT1c.802C= (p.Gln268=)
n.951C=
c.328C= (p.Gln110=)
c.850C= (p.Gln284=)
c.587-22588C= (n.587-22588C=)
c.539-22588C= (n.539-22588C=)
c.256C= (p.Gln86=)
9g.894175C>GCA4961661DMRT1c.802C>G (p.Gln268Glu)
n.951C>G
c.328C>G (p.Gln110Glu)
c.850C>G (p.Gln284Glu)
c.587-22588C>G (n.587-22588C>G)
c.539-22588C>G (n.539-22588C>G)
c.256C>G (p.Gln86Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894175C>TCA372777158DMRT1c.802C>T (p.Gln268Ter)
n.951C>T
c.328C>T (p.Gln110Ter)
c.850C>T (p.Gln284Ter)
c.587-22588C>T (n.587-22588C>T)
c.539-22588C>T (n.539-22588C>T)
c.256C>T (p.Gln86Ter)
9g.894176A=CA1827190907DMRT1c.803A= (p.Gln268=)
n.952A=
c.329A= (p.Gln110=)
c.851A= (p.Gln284=)
c.587-22587A= (n.587-22587A=)
c.539-22587A= (n.539-22587A=)
c.257A= (p.Gln86=)
9g.894176A>CCA372777161DMRT1c.803A>C (p.Gln268Pro)
n.952A>C
c.329A>C (p.Gln110Pro)
c.851A>C (p.Gln284Pro)
c.587-22587A>C (n.587-22587A>C)
c.539-22587A>C (n.539-22587A>C)
c.257A>C (p.Gln86Pro)
9g.894176A>GCA372777163DMRT1c.803A>G (p.Gln268Arg)
n.952A>G
c.329A>G (p.Gln110Arg)
c.851A>G (p.Gln284Arg)
c.587-22587A>G (n.587-22587A>G)
c.539-22587A>G (n.539-22587A>G)
c.257A>G (p.Gln86Arg)
9g.894176A>TCA372777165DMRT1c.803A>T (p.Gln268Leu)
n.952A>T
c.329A>T (p.Gln110Leu)
c.851A>T (p.Gln284Leu)
c.587-22587A>T (n.587-22587A>T)
c.539-22587A>T (n.539-22587A>T)
c.257A>T (p.Gln86Leu)
9g.894177G>ACA4961663DMRT1c.804G>A (p.Gln268=)
n.953G>A
c.330G>A (p.Gln110=)
c.852G>A (p.Gln284=)
c.587-22586G>A (n.587-22586G>A)
c.539-22586G>A (n.539-22586G>A)
c.258G>A (p.Gln86=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894177G>CCA187865214DMRT1c.804G>C (p.Gln268His)
n.953G>C
c.330G>C (p.Gln110His)
c.852G>C (p.Gln284His)
c.587-22586G>C (n.587-22586G>C)
c.539-22586G>C (n.539-22586G>C)
c.258G>C (p.Gln86His)
dbSNP gnomAD v2 gnomAD v4
9g.894177G=CA1827190909DMRT1c.804G= (p.Gln268=)
n.953G=
c.330G= (p.Gln110=)
c.852G= (p.Gln284=)
c.587-22586G= (n.587-22586G=)
c.539-22586G= (n.539-22586G=)
c.258G= (p.Gln86=)
9g.894177G>TCA372777169DMRT1c.804G>T (p.Gln268His)
n.953G>T
c.330G>T (p.Gln110His)
c.852G>T (p.Gln284His)
c.587-22586G>T (n.587-22586G>T)
c.539-22586G>T (n.539-22586G>T)
c.258G>T (p.Gln86His)
9g.894177_894182dupCA4961662DMRT1c.804_809dup (p.Gly270_Asn271insThrGly)
n.953_958dup
c.330_335dup (p.Gly112_Asn113insThrGly)
c.852_857dup (p.Gly286_Asn287insThrGly)
c.587-22586_587-22581dup (n.587-22586_587-22581dup)
c.539-22586_539-22581dup (n.539-22586_539-22581dup)
c.258_263dup (p.Gly88_Asn89insThrGly)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894178A>CCA372777170DMRT1c.805A>C (p.Thr269Pro)
n.954A>C
c.331A>C (p.Thr111Pro)
c.853A>C (p.Thr285Pro)
c.587-22585A>C (n.587-22585A>C)
c.539-22585A>C (n.539-22585A>C)
c.259A>C (p.Thr87Pro)
9g.894178A>GCA372777173DMRT1c.805A>G (p.Thr269Ala)
n.954A>G
c.331A>G (p.Thr111Ala)
c.853A>G (p.Thr285Ala)
c.587-22585A>G (n.587-22585A>G)
c.539-22585A>G (n.539-22585A>G)
c.259A>G (p.Thr87Ala)
9g.894178A>TCA372777171DMRT1c.805A>T (p.Thr269Ser)
n.954A>T
c.331A>T (p.Thr111Ser)
c.853A>T (p.Thr285Ser)
c.587-22585A>T (n.587-22585A>T)
c.539-22585A>T (n.539-22585A>T)
c.259A>T (p.Thr87Ser)
9g.894179C>ACA372777175DMRT1c.806C>A (p.Thr269Lys)
n.955C>A
c.332C>A (p.Thr111Lys)
c.854C>A (p.Thr285Lys)
c.587-22584C>A (n.587-22584C>A)
c.539-22584C>A (n.539-22584C>A)
c.260C>A (p.Thr87Lys)
9g.894179C>GCA372777177DMRT1c.806C>G (p.Thr269Arg)
n.955C>G
c.332C>G (p.Thr111Arg)
c.854C>G (p.Thr285Arg)
c.587-22584C>G (n.587-22584C>G)
c.539-22584C>G (n.539-22584C>G)
c.260C>G (p.Thr87Arg)
9g.894179C>TCA372777178DMRT1c.806C>T (p.Thr269Ile)
n.955C>T
c.332C>T (p.Thr111Ile)
c.854C>T (p.Thr285Ile)
c.587-22584C>T (n.587-22584C>T)
c.539-22584C>T (n.539-22584C>T)
c.260C>T (p.Thr87Ile)
gnomAD v4
9g.894180A=CA1827190911DMRT1c.807A= (p.Thr269=)
n.956A=
c.333A= (p.Thr111=)
c.855A= (p.Thr285=)
c.587-22583A= (n.587-22583A=)
c.539-22583A= (n.539-22583A=)
c.261A= (p.Thr87=)
9g.894180A>CCA463850657DMRT1c.807A>C (p.Thr269=)
n.956A>C
c.333A>C (p.Thr111=)
c.855A>C (p.Thr285=)
c.587-22583A>C (n.587-22583A>C)
c.539-22583A>C (n.539-22583A>C)
c.261A>C (p.Thr87=)
9g.894180A>GCA4961664DMRT1c.807A>G (p.Thr269=)
n.956A>G
c.333A>G (p.Thr111=)
c.855A>G (p.Thr285=)
c.587-22583A>G (n.587-22583A>G)
c.539-22583A>G (n.539-22583A>G)
c.261A>G (p.Thr87=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894180A>TCA463850659DMRT1c.807A>T (p.Thr269=)
n.956A>T
c.333A>T (p.Thr111=)
c.855A>T (p.Thr285=)
c.587-22583A>T (n.587-22583A>T)
c.539-22583A>T (n.539-22583A>T)
c.261A>T (p.Thr87=)
9g.894181G>ACA372777180DMRT1c.808G>A (p.Gly270Arg)
n.957G>A
c.334G>A (p.Gly112Arg)
c.856G>A (p.Gly286Arg)
c.587-22582G>A (n.587-22582G>A)
c.539-22582G>A (n.539-22582G>A)
c.262G>A (p.Gly88Arg)
9g.894181G>CCA372777185DMRT1c.808G>C (p.Gly270Arg)
n.957G>C
c.334G>C (p.Gly112Arg)
c.856G>C (p.Gly286Arg)
c.587-22582G>C (n.587-22582G>C)
c.539-22582G>C (n.539-22582G>C)
c.262G>C (p.Gly88Arg)
9g.894181G>TCA372777183DMRT1c.808G>T (p.Gly270Ter)
n.957G>T
c.334G>T (p.Gly112Ter)
c.856G>T (p.Gly286Ter)
c.587-22582G>T (n.587-22582G>T)
c.539-22582G>T (n.539-22582G>T)
c.262G>T (p.Gly88Ter)
gnomAD v4
9g.894182G>ACA372777186DMRT1c.809G>A (p.Gly270Glu)
n.958G>A
c.335G>A (p.Gly112Glu)
c.857G>A (p.Gly286Glu)
c.587-22581G>A (n.587-22581G>A)
c.539-22581G>A (n.539-22581G>A)
c.263G>A (p.Gly88Glu)
9g.894182G>CCA372777187DMRT1c.809G>C (p.Gly270Ala)
n.958G>C
c.335G>C (p.Gly112Ala)
c.857G>C (p.Gly286Ala)
c.587-22581G>C (n.587-22581G>C)
c.539-22581G>C (n.539-22581G>C)
c.263G>C (p.Gly88Ala)
gnomAD v4
9g.894182G>TCA372777189DMRT1c.809G>T (p.Gly270Val)
n.958G>T
c.335G>T (p.Gly112Val)
c.857G>T (p.Gly286Val)
c.587-22581G>T (n.587-22581G>T)
c.539-22581G>T (n.539-22581G>T)
c.263G>T (p.Gly88Val)
9g.894183A>CCA463850663DMRT1c.810A>C (p.Gly270=)
n.959A>C
c.336A>C (p.Gly112=)
c.858A>C (p.Gly286=)
c.587-22580A>C (n.587-22580A>C)
c.539-22580A>C (n.539-22580A>C)
c.264A>C (p.Gly88=)
9g.894183A>GCA463850665DMRT1c.810A>G (p.Gly270=)
n.959A>G
c.336A>G (p.Gly112=)
c.858A>G (p.Gly286=)
c.587-22580A>G (n.587-22580A>G)
c.539-22580A>G (n.539-22580A>G)
c.264A>G (p.Gly88=)
9g.894183A>TCA463850668DMRT1c.810A>T (p.Gly270=)
n.959A>T
c.336A>T (p.Gly112=)
c.858A>T (p.Gly286=)
c.587-22580A>T (n.587-22580A>T)
c.539-22580A>T (n.539-22580A>T)
c.264A>T (p.Gly88=)
9g.894184A>CCA372777191DMRT1c.811A>C (p.Asn271His)
n.960A>C
c.337A>C (p.Asn113His)
c.859A>C (p.Asn287His)
c.587-22579A>C (n.587-22579A>C)
c.539-22579A>C (n.539-22579A>C)
c.265A>C (p.Asn89His)
9g.894184A>GCA372777193DMRT1c.811A>G (p.Asn271Asp)
n.960A>G
c.337A>G (p.Asn113Asp)
c.859A>G (p.Asn287Asp)
c.587-22579A>G (n.587-22579A>G)
c.539-22579A>G (n.539-22579A>G)
c.265A>G (p.Asn89Asp)
9g.894184A>TCA372777194DMRT1c.811A>T (p.Asn271Tyr)
n.960A>T
c.337A>T (p.Asn113Tyr)
c.859A>T (p.Asn287Tyr)
c.587-22579A>T (n.587-22579A>T)
c.539-22579A>T (n.539-22579A>T)
c.265A>T (p.Asn89Tyr)
9g.894185A>CCA372777196DMRT1c.812A>C (p.Asn271Thr)
n.961A>C
c.338A>C (p.Asn113Thr)
c.860A>C (p.Asn287Thr)
c.587-22578A>C (n.587-22578A>C)
c.539-22578A>C (n.539-22578A>C)
c.266A>C (p.Asn89Thr)
9g.894185A>GCA372777198DMRT1c.812A>G (p.Asn271Ser)
n.961A>G
c.338A>G (p.Asn113Ser)
c.860A>G (p.Asn287Ser)
c.587-22578A>G (n.587-22578A>G)
c.539-22578A>G (n.539-22578A>G)
c.266A>G (p.Asn89Ser)
9g.894185A>TCA372777200DMRT1c.812A>T (p.Asn271Ile)
n.961A>T
c.338A>T (p.Asn113Ile)
c.860A>T (p.Asn287Ile)
c.587-22578A>T (n.587-22578A>T)
c.539-22578A>T (n.539-22578A>T)
c.266A>T (p.Asn89Ile)
9g.894186C>ACA372777201DMRT1c.813C>A (p.Asn271Lys)
n.962C>A
c.339C>A (p.Asn113Lys)
c.861C>A (p.Asn287Lys)
c.587-22577C>A (n.587-22577C>A)
c.539-22577C>A (n.539-22577C>A)
c.267C>A (p.Asn89Lys)
9g.894186C=CA1827190913DMRT1c.813C= (p.Asn271=)
n.962C=
c.339C= (p.Asn113=)
c.861C= (p.Asn287=)
c.587-22577C= (n.587-22577C=)
c.539-22577C= (n.539-22577C=)
c.267C= (p.Asn89=)
9g.894186C>GCA372777202DMRT1c.813C>G (p.Asn271Lys)
n.962C>G
c.339C>G (p.Asn113Lys)
c.861C>G (p.Asn287Lys)
c.587-22577C>G (n.587-22577C>G)
c.539-22577C>G (n.539-22577C>G)
c.267C>G (p.Asn89Lys)
9g.894186C>TCA463850672DMRT1c.813C>T (p.Asn271=)
n.962C>T
c.339C>T (p.Asn113=)
c.861C>T (p.Asn287=)
c.587-22577C>T (n.587-22577C>T)
c.539-22577C>T (n.539-22577C>T)
c.267C>T (p.Asn89=)
dbSNP
9g.894187C>ACA372777206DMRT1c.814C>A (p.Gln272Lys)
n.963C>A
c.340C>A (p.Gln114Lys)
c.862C>A (p.Gln288Lys)
c.587-22576C>A (n.587-22576C>A)
c.539-22576C>A (n.539-22576C>A)
c.268C>A (p.Gln90Lys)
9g.894187C>GCA372777205DMRT1c.814C>G (p.Gln272Glu)
n.963C>G
c.340C>G (p.Gln114Glu)
c.862C>G (p.Gln288Glu)
c.587-22576C>G (n.587-22576C>G)
c.539-22576C>G (n.539-22576C>G)
c.268C>G (p.Gln90Glu)
9g.894187C>TCA372777203DMRT1c.814C>T (p.Gln272Ter)
n.963C>T
c.340C>T (p.Gln114Ter)
c.862C>T (p.Gln288Ter)
c.587-22576C>T (n.587-22576C>T)
c.539-22576C>T (n.539-22576C>T)
c.268C>T (p.Gln90Ter)
9g.894188A=CA1827190914DMRT1c.815A= (p.Gln272=)
n.964A=
c.341A= (p.Gln114=)
c.863A= (p.Gln288=)
c.587-22575A= (n.587-22575A=)
c.539-22575A= (n.539-22575A=)
c.269A= (p.Gln90=)
9g.894188A>CCA372777207DMRT1c.815A>C (p.Gln272Pro)
n.964A>C
c.341A>C (p.Gln114Pro)
c.863A>C (p.Gln288Pro)
c.587-22575A>C (n.587-22575A>C)
c.539-22575A>C (n.539-22575A>C)
c.269A>C (p.Gln90Pro)
9g.894188A>GCA4961665DMRT1c.815A>G (p.Gln272Arg)
n.964A>G
c.341A>G (p.Gln114Arg)
c.863A>G (p.Gln288Arg)
c.587-22575A>G (n.587-22575A>G)
c.539-22575A>G (n.539-22575A>G)
c.269A>G (p.Gln90Arg)
dbSNP ExAC gnomAD v2
9g.894188A>TCA372777209DMRT1c.815A>T (p.Gln272Leu)
n.964A>T
c.341A>T (p.Gln114Leu)
c.863A>T (p.Gln288Leu)
c.587-22575A>T (n.587-22575A>T)
c.539-22575A>T (n.539-22575A>T)
c.269A>T (p.Gln90Leu)
9g.894189G>ACA463850679DMRT1c.816G>A (p.Gln272=)
n.965G>A
c.342G>A (p.Gln114=)
c.864G>A (p.Gln288=)
c.587-22574G>A (n.587-22574G>A)
c.539-22574G>A (n.539-22574G>A)
c.270G>A (p.Gln90=)
9g.894189G>CCA372777211DMRT1c.816G>C (p.Gln272His)
n.965G>C
c.342G>C (p.Gln114His)
c.864G>C (p.Gln288His)
c.587-22574G>C (n.587-22574G>C)
c.539-22574G>C (n.539-22574G>C)
c.270G>C (p.Gln90His)
9g.894189G>TCA372777212DMRT1c.816G>T (p.Gln272His)
n.965G>T
c.342G>T (p.Gln114His)
c.864G>T (p.Gln288His)
c.587-22574G>T (n.587-22574G>T)
c.539-22574G>T (n.539-22574G>T)
c.270G>T (p.Gln90His)
9g.894190T>ACA372777214DMRT1c.817T>A (p.Trp273Arg)
n.966T>A
c.343T>A (p.Trp115Arg)
c.865T>A (p.Trp289Arg)
c.587-22573T>A (n.587-22573T>A)
c.539-22573T>A (n.539-22573T>A)
c.271T>A (p.Trp91Arg)
9g.894190T>CCA372777215DMRT1c.817T>C (p.Trp273Arg)
n.966T>C
c.343T>C (p.Trp115Arg)
c.865T>C (p.Trp289Arg)
c.587-22573T>C (n.587-22573T>C)
c.539-22573T>C (n.539-22573T>C)
c.271T>C (p.Trp91Arg)
9g.894190T>GCA372777217DMRT1c.817T>G (p.Trp273Gly)
n.966T>G
c.343T>G (p.Trp115Gly)
c.865T>G (p.Trp289Gly)
c.587-22573T>G (n.587-22573T>G)
c.539-22573T>G (n.539-22573T>G)
c.271T>G (p.Trp91Gly)
9g.894191G>ACA372777219DMRT1c.818G>A (p.Trp273Ter)
n.967G>A
c.344G>A (p.Trp115Ter)
c.866G>A (p.Trp289Ter)
c.587-22572G>A (n.587-22572G>A)
c.539-22572G>A (n.539-22572G>A)
c.272G>A (p.Trp91Ter)
9g.894191G>CCA372777220DMRT1c.818G>C (p.Trp273Ser)
n.967G>C
c.344G>C (p.Trp115Ser)
c.866G>C (p.Trp289Ser)
c.587-22572G>C (n.587-22572G>C)
c.539-22572G>C (n.539-22572G>C)
c.272G>C (p.Trp91Ser)
9g.894191G>TCA372777221DMRT1c.818G>T (p.Trp273Leu)
n.967G>T
c.344G>T (p.Trp115Leu)
c.866G>T (p.Trp289Leu)
c.587-22572G>T (n.587-22572G>T)
c.539-22572G>T (n.539-22572G>T)
c.272G>T (p.Trp91Leu)
9g.894192G>ACA372777223DMRT1c.819G>A (p.Trp273Ter)
n.968G>A
c.345G>A (p.Trp115Ter)
c.867G>A (p.Trp289Ter)
c.587-22571G>A (n.587-22571G>A)
c.539-22571G>A (n.539-22571G>A)
c.273G>A (p.Trp91Ter)
9g.894192G>CCA372777225DMRT1c.819G>C (p.Trp273Cys)
n.968G>C
c.345G>C (p.Trp115Cys)
c.867G>C (p.Trp289Cys)
c.587-22571G>C (n.587-22571G>C)
c.539-22571G>C (n.539-22571G>C)
c.273G>C (p.Trp91Cys)
9g.894192G>TCA372777227DMRT1c.819G>T (p.Trp273Cys)
n.968G>T
c.345G>T (p.Trp115Cys)
c.867G>T (p.Trp289Cys)
c.587-22571G>T (n.587-22571G>T)
c.539-22571G>T (n.539-22571G>T)
c.273G>T (p.Trp91Cys)
9g.894193C>ACA372777230DMRT1c.820C>A (p.Gln274Lys)
n.969C>A
c.346C>A (p.Gln116Lys)
c.868C>A (p.Gln290Lys)
c.587-22570C>A (n.587-22570C>A)
c.539-22570C>A (n.539-22570C>A)
c.274C>A (p.Gln92Lys)
9g.894193C=CA1827190916DMRT1c.820C= (p.Gln274=)
n.969C=
c.346C= (p.Gln116=)
c.868C= (p.Gln290=)
c.587-22570C= (n.587-22570C=)
c.539-22570C= (n.539-22570C=)
c.274C= (p.Gln92=)
9g.894193C>GCA4961666DMRT1c.820C>G (p.Gln274Glu)
n.969C>G
c.346C>G (p.Gln116Glu)
c.868C>G (p.Gln290Glu)
c.587-22570C>G (n.587-22570C>G)
c.539-22570C>G (n.539-22570C>G)
c.274C>G (p.Gln92Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894193C>TCA372777228DMRT1c.820C>T (p.Gln274Ter)
n.969C>T
c.346C>T (p.Gln116Ter)
c.868C>T (p.Gln290Ter)
c.587-22570C>T (n.587-22570C>T)
c.539-22570C>T (n.539-22570C>T)
c.274C>T (p.Gln92Ter)
9g.894194A=CA1827190918DMRT1c.821A= (p.Gln274=)
n.970A=
c.347A= (p.Gln116=)
c.869A= (p.Gln290=)
c.587-22569A= (n.587-22569A=)
c.539-22569A= (n.539-22569A=)
c.275A= (p.Gln92=)
9g.894194A>CCA372777231DMRT1c.821A>C (p.Gln274Pro)
n.970A>C
c.347A>C (p.Gln116Pro)
c.869A>C (p.Gln290Pro)
c.587-22569A>C (n.587-22569A>C)
c.539-22569A>C (n.539-22569A>C)
c.275A>C (p.Gln92Pro)
9g.894194A>GCA187865269DMRT1c.821A>G (p.Gln274Arg)
n.970A>G
c.347A>G (p.Gln116Arg)
c.869A>G (p.Gln290Arg)
c.587-22569A>G (n.587-22569A>G)
c.539-22569A>G (n.539-22569A>G)
c.275A>G (p.Gln92Arg)
dbSNP gnomAD v3 gnomAD v4
9g.894194A>TCA372777233DMRT1c.821A>T (p.Gln274Leu)
n.970A>T
c.347A>T (p.Gln116Leu)
c.869A>T (p.Gln290Leu)
c.587-22569A>T (n.587-22569A>T)
c.539-22569A>T (n.539-22569A>T)
c.275A>T (p.Gln92Leu)
9g.894195G>ACA463850300DMRT1c.822G>A (p.Gln274=)
n.971G>A
c.348G>A (p.Gln116=)
c.870G>A (p.Gln290=)
c.587-22568G>A (n.587-22568G>A)
c.539-22568G>A (n.539-22568G>A)
c.276G>A (p.Gln92=)
gnomAD v4
9g.894195G>CCA372777234DMRT1c.822G>C (p.Gln274His)
n.971G>C
c.348G>C (p.Gln116His)
c.870G>C (p.Gln290His)
c.587-22568G>C (n.587-22568G>C)
c.539-22568G>C (n.539-22568G>C)
c.276G>C (p.Gln92His)
9g.894195G>TCA372777235DMRT1c.822G>T (p.Gln274His)
n.971G>T
c.348G>T (p.Gln116His)
c.870G>T (p.Gln290His)
c.587-22568G>T (n.587-22568G>T)
c.539-22568G>T (n.539-22568G>T)
c.276G>T (p.Gln92His)
9g.894196G>ACA372777236DMRT1c.822+1G>A (n.822+1G>A)
n.972G>A
c.348+1G>A (n.348+1G>A)
c.870+1G>A (n.870+1G>A)
c.587-22567G>A (n.587-22567G>A)
c.539-22567G>A (n.539-22567G>A)
c.276+1G>A (n.276+1G>A)
9g.894196G>CCA372777237DMRT1c.822+1G>C (n.822+1G>C)
n.972G>C
c.348+1G>C (n.348+1G>C)
c.870+1G>C (n.870+1G>C)
c.587-22567G>C (n.587-22567G>C)
c.539-22567G>C (n.539-22567G>C)
c.276+1G>C (n.276+1G>C)
gnomAD v4
9g.894196G>TCA372777239DMRT1c.822+1G>T (n.822+1G>T)
n.972G>T
c.348+1G>T (n.348+1G>T)
c.870+1G>T (n.870+1G>T)
c.587-22567G>T (n.587-22567G>T)
c.539-22567G>T (n.539-22567G>T)
c.276+1G>T (n.276+1G>T)
9g.894197T>ACA372777241DMRT1c.822+2T>A (n.822+2T>A)
n.973T>A
c.348+2T>A (n.348+2T>A)
c.870+2T>A (n.870+2T>A)
c.587-22566T>A (n.587-22566T>A)
c.539-22566T>A (n.539-22566T>A)
c.276+2T>A (n.276+2T>A)
9g.894197T>CCA372777242DMRT1c.822+2T>C (n.822+2T>C)
n.973T>C
c.348+2T>C (n.348+2T>C)
c.870+2T>C (n.870+2T>C)
c.587-22566T>C (n.587-22566T>C)
c.539-22566T>C (n.539-22566T>C)
c.276+2T>C (n.276+2T>C)
9g.894197T>GCA4961667DMRT1c.822+2T>G (n.822+2T>G)
n.973T>G
c.348+2T>G (n.348+2T>G)
c.870+2T>G (n.870+2T>G)
c.587-22566T>G (n.587-22566T>G)
c.539-22566T>G (n.539-22566T>G)
c.276+2T>G (n.276+2T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894197T=CA1827190920DMRT1c.822+2T= (n.822+2T=)
n.973T=
c.348+2T= (n.348+2T=)
c.870+2T= (n.870+2T=)
c.587-22566T= (n.587-22566T=)
c.539-22566T= (n.539-22566T=)
c.276+2T= (n.276+2T=)
9g.894197_894206delinsTATGATATTACA1827190921DMRT1c.822+2_822+11delinsTATGATATTA (n.822+2_822+11delinsTATGATATTA)
n.973_982delinsTATGATATTA
c.348+2_348+11delinsTATGATATTA (n.348+2_348+11delinsTATGATATTA)
c.870+2_870+11delinsTATGATATTA (n.870+2_870+11delinsTATGATATTA)
c.587-22566_587-22557delinsTATGATATTA (n.587-22566_587-22557delinsTATGATATTA)
c.539-22566_539-22557delinsTATGATATTA (n.539-22566_539-22557delinsTATGATATTA)
c.276+2_276+11delinsTATGATATTA (n.276+2_276+11delinsTATGATATTA)
9g.894198A=CA1827190924DMRT1c.822+3A= (n.822+3A=)
n.974A=
c.348+3A= (n.348+3A=)
c.870+3A= (n.870+3A=)
c.587-22565A= (n.587-22565A=)
c.539-22565A= (n.539-22565A=)
c.276+3A= (n.276+3A=)
9g.894198A>GCA4961668DMRT1c.822+3A>G (n.822+3A>G)
n.974A>G
c.348+3A>G (n.348+3A>G)
c.870+3A>G (n.870+3A>G)
c.587-22565A>G (n.587-22565A>G)
c.539-22565A>G (n.539-22565A>G)
c.276+3A>G (n.276+3A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894200_894208delCA586167798DMRT1c.822+5_822+13del (n.822+5_822+13del)
n.976_984del
c.348+5_348+13del (n.348+5_348+13del)
c.870+5_870+13del (n.870+5_870+13del)
c.587-22563_587-22555del (n.587-22563_587-22555del)
c.539-22563_539-22555del (n.539-22563_539-22555del)
c.276+5_276+13del (n.276+5_276+13del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894199delCA2579288534DMRT1c.822+4del (n.822+4del)
n.975del
c.348+4del (n.348+4del)
c.870+4del (n.870+4del)
c.587-22564del (n.587-22564del)
c.539-22564del (n.539-22564del)
c.276+4del (n.276+4del)
9g.894199T>ACA2689223482DMRT1c.822+4T>A (n.822+4T>A)
n.975T>A
c.348+4T>A (n.348+4T>A)
c.870+4T>A (n.870+4T>A)
c.587-22564T>A (n.587-22564T>A)
c.539-22564T>A (n.539-22564T>A)
c.276+4T>A (n.276+4T>A)
gnomAD v4
9g.894199T>GCA586167799DMRT1c.822+4T>G (n.822+4T>G)
n.975T>G
c.348+4T>G (n.348+4T>G)
c.870+4T>G (n.870+4T>G)
c.587-22564T>G (n.587-22564T>G)
c.539-22564T>G (n.539-22564T>G)
c.276+4T>G (n.276+4T>G)
dbSNP gnomAD v2 gnomAD v4
9g.894199T=CA1827190925DMRT1c.822+4T= (n.822+4T=)
n.975T=
c.348+4T= (n.348+4T=)
c.870+4T= (n.870+4T=)
c.587-22564T= (n.587-22564T=)
c.539-22564T= (n.539-22564T=)
c.276+4T= (n.276+4T=)
9g.894200G>ACA2579288535DMRT1c.822+5G>A (n.822+5G>A)
n.976G>A
c.348+5G>A (n.348+5G>A)
c.870+5G>A (n.870+5G>A)
c.587-22563G>A (n.587-22563G>A)
c.539-22563G>A (n.539-22563G>A)
c.276+5G>A (n.276+5G>A)
9g.894200G>TCA2579288536DMRT1c.822+5G>T (n.822+5G>T)
n.976G>T
c.348+5G>T (n.348+5G>T)
c.870+5G>T (n.870+5G>T)
c.587-22563G>T (n.587-22563G>T)
c.539-22563G>T (n.539-22563G>T)
c.276+5G>T (n.276+5G>T)
9g.894201A=CA1827190927DMRT1c.822+6A= (n.822+6A=)
n.977A=
c.348+6A= (n.348+6A=)
c.870+6A= (n.870+6A=)
c.587-22562A= (n.587-22562A=)
c.539-22562A= (n.539-22562A=)
c.276+6A= (n.276+6A=)
9g.894201A>GCA2689223483DMRT1c.822+6A>G (n.822+6A>G)
n.977A>G
c.348+6A>G (n.348+6A>G)
c.870+6A>G (n.870+6A>G)
c.587-22562A>G (n.587-22562A>G)
c.539-22562A>G (n.539-22562A>G)
c.276+6A>G (n.276+6A>G)
gnomAD v4
9g.894201A>TCA1827190928DMRT1c.822+6A>T (n.822+6A>T)
n.977A>T
c.348+6A>T (n.348+6A>T)
c.870+6A>T (n.870+6A>T)
c.587-22562A>T (n.587-22562A>T)
c.539-22562A>T (n.539-22562A>T)
c.276+6A>T (n.276+6A>T)
dbSNP gnomAD v4
9g.894203A=CA1827190930DMRT1c.822+8A= (n.822+8A=)
n.979A=
c.348+8A= (n.348+8A=)
c.870+8A= (n.870+8A=)
c.587-22560A= (n.587-22560A=)
c.539-22560A= (n.539-22560A=)
c.276+8A= (n.276+8A=)
9g.894203A>GCA868206328DMRT1c.822+8A>G (n.822+8A>G)
n.979A>G
c.348+8A>G (n.348+8A>G)
c.870+8A>G (n.870+8A>G)
c.587-22560A>G (n.587-22560A>G)
c.539-22560A>G (n.539-22560A>G)
c.276+8A>G (n.276+8A>G)
dbSNP gnomAD v4
9g.894204T>CCA1120422121DMRT1c.822+9T>C (n.822+9T>C)
n.980T>C
c.348+9T>C (n.348+9T>C)
c.870+9T>C (n.870+9T>C)
c.587-22559T>C (n.587-22559T>C)
c.539-22559T>C (n.539-22559T>C)
c.276+9T>C (n.276+9T>C)
dbSNP gnomAD v3 gnomAD v4
9g.894204T=CA1827190931DMRT1c.822+9T= (n.822+9T=)
n.980T=
c.348+9T= (n.348+9T=)
c.870+9T= (n.870+9T=)
c.587-22559T= (n.587-22559T=)
c.539-22559T= (n.539-22559T=)
c.276+9T= (n.276+9T=)
9g.894205T>CCA2579288537DMRT1c.822+10T>C (n.822+10T>C)
n.981T>C
c.348+10T>C (n.348+10T>C)
c.870+10T>C (n.870+10T>C)
c.587-22558T>C (n.587-22558T>C)
c.539-22558T>C (n.539-22558T>C)
c.276+10T>C (n.276+10T>C)
9g.894206A=CA1827190933DMRT1c.822+11A= (n.822+11A=)
n.982A=
c.348+11A= (n.348+11A=)
c.870+11A= (n.870+11A=)
c.587-22557A= (n.587-22557A=)
c.539-22557A= (n.539-22557A=)
c.276+11A= (n.276+11A=)
9g.894206A>CCA586167800DMRT1c.822+11A>C (n.822+11A>C)
n.982A>C
c.348+11A>C (n.348+11A>C)
c.870+11A>C (n.870+11A>C)
c.587-22557A>C (n.587-22557A>C)
c.539-22557A>C (n.539-22557A>C)
c.276+11A>C (n.276+11A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched