Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.894106G>A | CA372776939 | DMRT1 | c.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 |
9 | g.894106G>C | CA372776940 | DMRT1 | c.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) | |
9 | g.894106G>T | CA372776942 | DMRT1 | c.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) | |
9 | g.894107G>A | CA4961633 | DMRT1 | c.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 |
9 | g.894107G>C | CA372776944 | DMRT1 | c.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) | |
9 | g.894107G= | CA1827190817 | DMRT1 | c.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=) | |
9 | g.894107G>T | CA372776946 | DMRT1 | c.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) | |
9 | g.894108A= | CA1827190819 | DMRT1 | c.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=) | |
9 | g.894108A>C | CA463850437 | DMRT1 | c.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 |
9 | g.894108A>G | CA4961634 | DMRT1 | c.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 |
9 | g.894108A>T | CA463850438 | DMRT1 | c.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=) | |
9 | g.894109A= | CA1827190821 | DMRT1 | c.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=) | |
9 | g.894109A>C | CA372776948 | DMRT1 | c.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 |
9 | g.894109A>G | CA372776950 | DMRT1 | c.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 |
9 | g.894109A>T | CA372776951 | DMRT1 | c.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) | |
9 | g.894110A= | CA1827190823 | DMRT1 | c.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=) | |
9 | g.894110A>C | CA372776953 | DMRT1 | c.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) | |
9 | g.894110A>G | CA372776955 | DMRT1 | c.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 |
9 | g.894110A>T | CA372776957 | DMRT1 | c.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) | |
9 | g.894111T>A | CA372776959 | DMRT1 | c.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 |
9 | g.894111T>C | CA463850444 | DMRT1 | c.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=) | |
9 | g.894111T>G | CA372776958 | DMRT1 | c.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) | |
9 | g.894112C>A | CA372776960 | DMRT1 | c.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 |
9 | g.894112C= | CA1827190824 | DMRT1 | c.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=) | |
9 | g.894112C>G | CA372776961 | DMRT1 | c.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 |
9 | g.894112C>T | CA372776962 | DMRT1 | c.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 |
9 | g.894113C>A | CA372776963 | DMRT1 | c.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) | |
9 | g.894113C>G | CA372776964 | DMRT1 | c.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) | |
9 | g.894113C>T | CA372776966 | DMRT1 | c.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) | |
9 | g.894114C>A | CA463850454 | DMRT1 | c.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=) | |
9 | g.894114C= | CA1827190827 | DMRT1 | c.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=) | |
9 | g.894114C>G | CA463850455 | DMRT1 | c.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 |
9 | g.894114C>T | CA463850456 | DMRT1 | c.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 |
9 | g.894115C>A | CA372776968 | DMRT1 | c.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) | |
9 | g.894115C>G | CA372776969 | DMRT1 | c.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) | |
9 | g.894115C>T | CA372776971 | DMRT1 | c.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) | |
9 | g.894116T>A | CA372776973 | DMRT1 | c.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) | |
9 | g.894116T>C | CA372776975 | DMRT1 | c.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) | |
9 | g.894116T>G | CA372776976 | DMRT1 | c.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) | |
9 | g.894117C>A | CA463850460 | DMRT1 | c.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=) | |
9 | g.894117C= | CA1827190829 | DMRT1 | c.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=) | |
9 | g.894117C>G | CA463850462 | DMRT1 | c.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=) | |
9 | g.894117C>T | CA4961635 | DMRT1 | c.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 |
9 | g.894118G>A | CA4961636 | DMRT1 | c.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 |
9 | g.894118G>C | CA372776980 | DMRT1 | c.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) | |
9 | g.894118G= | CA1827190831 | DMRT1 | c.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=) | |
9 | g.894118G>T | CA187865018 | DMRT1 | c.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 |
9 | g.894119G>A | CA372776981 | DMRT1 | c.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) | |
9 | g.894119G>C | CA372776983 | DMRT1 | c.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) | |
9 | g.894119G>T | CA372776984 | DMRT1 | c.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 |
9 | g.894120G>A | CA463850465 | DMRT1 | c.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 |
9 | g.894120G>C | CA4961637 | DMRT1 | c.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 |
9 | g.894120G= | CA1827190833 | DMRT1 | c.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=) | |
9 | g.894120G>T | CA463850468 | DMRT1 | c.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 |
9 | g.894121G>A | CA372776987 | DMRT1 | c.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) | |
9 | g.894121G>C | CA372776988 | DMRT1 | c.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 |
9 | g.894121G>T | CA372776989 | DMRT1 | c.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) | |
9 | g.894122G>A | CA372776991 | DMRT1 | c.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) | |
9 | g.894122G>C | CA372776992 | DMRT1 | c.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) | |
9 | g.894122G= | CA1827190836 | DMRT1 | c.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=) | |
9 | g.894122G>T | CA372776993 | DMRT1 | c.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 |
9 | g.894123A>C | CA463850473 | DMRT1 | c.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=) | |
9 | g.894123A>G | CA463850475 | DMRT1 | c.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=) | |
9 | g.894123A>T | CA463850477 | DMRT1 | c.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 |
9 | g.894124T>A | CA372776995 | DMRT1 | c.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) | |
9 | g.894124T>C | CA372776996 | DMRT1 | c.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 |
9 | g.894124T>G | CA4961638 | DMRT1 | c.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 |
9 | g.894124T= | CA1827190837 | DMRT1 | c.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=) | |
9 | g.894125C>A | CA4961639 | DMRT1 | c.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 |
9 | g.894125C= | CA1827190839 | DMRT1 | c.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=) | |
9 | g.894125C>G | CA372776999 | DMRT1 | c.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) | |
9 | g.894125C>T | CA372776998 | DMRT1 | c.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 |
9 | g.894126C>A | CA463850483 | DMRT1 | c.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 |
9 | g.894126C= | CA1827190841 | DMRT1 | c.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=) | |
9 | g.894126C>G | CA463850484 | DMRT1 | c.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=) | |
9 | g.894126C>T | CA463850485 | DMRT1 | c.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 |
9 | g.894127C>A | CA372777001 | DMRT1 | c.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) | |
9 | g.894127C= | CA1827190843 | DMRT1 | c.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=) | |
9 | g.894127C>G | CA4961640 | DMRT1 | c.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 |
9 | g.894127C>T | CA372777003 | DMRT1 | c.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 |
9 | g.894128C>A | CA372777005 | DMRT1 | c.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 |
9 | g.894128C= | CA1827190845 | DMRT1 | c.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=) | |
9 | g.894128C>G | CA372777006 | DMRT1 | c.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) | |
9 | g.894128C>T | CA4961641 | DMRT1 | c.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 |
9 | g.894129T>A | CA4961642 | DMRT1 | c.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 |
9 | g.894129T>C | CA463850487 | DMRT1 | c.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=) | |
9 | g.894129T>G | CA463850488 | DMRT1 | c.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 |
9 | g.894129T= | CA1827190847 | DMRT1 | c.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=) | |
9 | g.894130G>A | CA372777008 | DMRT1 | c.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 |
9 | g.894130G>C | CA372777010 | DMRT1 | c.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) | |
9 | g.894130G= | CA1827190849 | DMRT1 | c.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=) | |
9 | g.894130G>T | CA372777011 | DMRT1 | c.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) | |
9 | g.894131T>A | CA372777014 | DMRT1 | c.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) | |
9 | g.894131T>C | CA372777015 | DMRT1 | c.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) | |
9 | g.894131T>G | CA372777013 | DMRT1 | c.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) | |
9 | g.894132G>A | CA463850492 | DMRT1 | c.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=) | |
9 | g.894132G>C | CA463850493 | DMRT1 | c.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=) | |
9 | g.894132G>T | CA463850495 | DMRT1 | c.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=) | |
9 | g.894133A>C | CA372777019 | DMRT1 | c.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 |
9 | g.894133A>G | CA372777017 | DMRT1 | c.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 |
9 | g.894133A>T | CA372777018 | DMRT1 | c.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) | |
9 | g.894134A= | CA1827190851 | DMRT1 | c.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=) | |
9 | g.894134A>C | CA4961643 | DMRT1 | c.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 |
9 | g.894134A>G | CA372777021 | DMRT1 | c.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) | |
9 | g.894134A>T | CA372777023 | DMRT1 | c.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) | |
9 | g.894135G>A | CA187865081 | DMRT1 | c.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 |
9 | g.894135G>C | CA372777025 | DMRT1 | c.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) | |
9 | g.894135G= | CA1827190852 | DMRT1 | c.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=) | |
9 | g.894135G>T | CA372777027 | DMRT1 | c.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) | |
9 | g.894136A>C | CA372777028 | DMRT1 | c.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) | |
9 | g.894136A>G | CA372777030 | DMRT1 | c.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) | |
9 | g.894136A>T | CA372777032 | DMRT1 | c.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) | |
9 | g.894136_894145del | CA2689223427 | DMRT1 | c.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 |
9 | g.894137A>C | CA372777033 | DMRT1 | c.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) | |
9 | g.894137A>G | CA372777034 | DMRT1 | c.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 |
9 | g.894137A>T | CA372777035 | DMRT1 | c.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 |
9 | g.894138C>A | CA372777039 | DMRT1 | c.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) | |
9 | g.894138C>G | CA372777037 | DMRT1 | c.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) | |
9 | g.894138C>T | CA463850507 | DMRT1 | c.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 |
9 | g.894139A>C | CA372777040 | DMRT1 | c.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) | |
9 | g.894139A>G | CA372777041 | DMRT1 | c.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) | |
9 | g.894139A>T | CA372777042 | DMRT1 | c.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) | |
9 | g.894140G>A | CA4961644 | DMRT1 | c.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 |
9 | g.894140G>C | CA187865092 | DMRT1 | c.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 |
9 | g.894140G= | CA1827190854 | DMRT1 | c.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=) | |
9 | g.894140G>T | CA372777043 | DMRT1 | c.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) | |
9 | g.894141C>A | CA372777045 | DMRT1 | c.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 |
9 | g.894141C= | CA1827190857 | DMRT1 | c.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=) | |
9 | g.894141C>G | CA4961645 | DMRT1 | c.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 |
9 | g.894141C>T | CA463850516 | DMRT1 | c.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=) | |
9 | g.894142C>A | CA372777048 | DMRT1 | c.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) | |
9 | g.894142C= | CA1827190858 | DMRT1 | c.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=) | |
9 | g.894142C>G | CA372777050 | DMRT1 | c.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 |
9 | g.894142C>T | CA372777054 | DMRT1 | c.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) | |
9 | g.894143T>A | CA372777056 | DMRT1 | c.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) | |
9 | g.894143T>C | CA372777057 | DMRT1 | c.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) | |
9 | g.894143T>G | CA372777058 | DMRT1 | c.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) | |
9 | g.894144T>A | CA463850520 | DMRT1 | c.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 |
9 | g.894144T>C | CA463850518 | DMRT1 | c.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=) | |
9 | g.894144T>G | CA463850519 | DMRT1 | c.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=) | |
9 | g.894145C>A | CA187865116 | DMRT1 | c.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 |
9 | g.894145C= | CA1827190860 | DMRT1 | c.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=) | |
9 | g.894145C>G | CA372777060 | DMRT1 | c.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 |
9 | g.894145C>T | CA4961646 | DMRT1 | c.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 |
9 | g.894146G>A | CA372777063 | DMRT1 | c.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 |
9 | g.894146G>C | CA372777064 | DMRT1 | c.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 |
9 | g.894146G= | CA1827190863 | DMRT1 | c.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=) | |
9 | g.894146G>T | CA4961647 | DMRT1 | c.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 |
9 | g.894149dup | CA2689223436 | DMRT1 | c.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 |
9 | g.894149del | CA463850525 | DMRT1 | c.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 |
9 | g.894147G>A | CA463850526 | DMRT1 | c.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=) | |
9 | g.894147G>C | CA4961648 | DMRT1 | c.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 |
9 | g.894147G= | CA1827190867 | DMRT1 | c.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=) | |
9 | g.894147G>T | CA463850527 | DMRT1 | c.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=) | |
9 | g.894148G>A | CA372777066 | DMRT1 | c.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) | |
9 | g.894148G>C | CA372777068 | DMRT1 | c.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) | |
9 | g.894148G>T | CA372777071 | DMRT1 | c.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 |
9 | g.894149G>A | CA372777073 | DMRT1 | c.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 |
9 | g.894149G>C | CA372777075 | DMRT1 | c.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 |
9 | g.894149G= | CA1827190869 | DMRT1 | c.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=) | |
9 | g.894149G>T | CA4961649 | DMRT1 | c.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 |
9 | g.894149_894152del | CA2689223444 | DMRT1 | c.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 |
9 | g.894150C>A | CA463850535 | DMRT1 | c.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=) | |
9 | g.894150C= | CA1827190871 | DMRT1 | c.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=) | |
9 | g.894150C>G | CA463850537 | DMRT1 | c.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=) | |
9 | g.894150C>T | CA463850539 | DMRT1 | c.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 |
9 | g.894151C>A | CA372777077 | DMRT1 | c.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) | |
9 | g.894151C>G | CA372777079 | DMRT1 | c.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) | |
9 | g.894151C>T | CA372777080 | DMRT1 | c.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) | |
9 | g.894152T>A | CA372777085 | DMRT1 | c.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) | |
9 | g.894152T>C | CA372777087 | DMRT1 | c.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 |
9 | g.894152T>G | CA372777082 | DMRT1 | c.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 |
9 | g.894152T= | CA1827190873 | DMRT1 | c.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=) | |
9 | g.894153C>A | CA463850552 | DMRT1 | c.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=) | |
9 | g.894153C= | CA1827190875 | DMRT1 | c.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=) | |
9 | g.894153C>G | CA463850553 | DMRT1 | c.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=) | |
9 | g.894153C>T | CA463850554 | DMRT1 | c.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 |
9 | g.894154C>A | CA372777090 | DMRT1 | c.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) | |
9 | g.894154C= | CA1827190877 | DMRT1 | c.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=) | |
9 | g.894154C>G | CA372777091 | DMRT1 | c.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 |
9 | g.894154C>T | CA187865123 | DMRT1 | c.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 |
9 | g.894155C>A | CA372777095 | DMRT1 | c.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) | |
9 | g.894155C>G | CA372777096 | DMRT1 | c.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) | |
9 | g.894155C>T | CA372777098 | DMRT1 | c.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) | |
9 | g.894156C>A | CA463850560 | DMRT1 | c.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=) | |
9 | g.894156C= | CA1827190881 | DMRT1 | c.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=) | |
9 | g.894156C>G | CA4961651 | DMRT1 | c.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 |
9 | g.894156C>T | CA4961650 | DMRT1 | c.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 |
9 | g.894157G>A | CA4961652 | DMRT1 | c.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 |
9 | g.894157G>C | CA372777102 | DMRT1 | c.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) | |
9 | g.894157G= | CA1827190883 | DMRT1 | c.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=) | |
9 | g.894157G>T | CA372777103 | DMRT1 | c.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) | |
9 | g.894158G>A | CA372777105 | DMRT1 | c.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) | |
9 | g.894158G>C | CA372777106 | DMRT1 | c.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 |
9 | g.894158G= | CA1827190885 | DMRT1 | c.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=) | |
9 | g.894158G>T | CA372777107 | DMRT1 | c.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) | |
9 | g.894159A>C | CA463850569 | DMRT1 | c.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=) | |
9 | g.894159A>G | CA463850573 | DMRT1 | c.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=) | |
9 | g.894159A>T | CA463850572 | DMRT1 | c.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=) | |
9 | g.894160C>A | CA372777109 | DMRT1 | c.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) | |
9 | g.894160C>G | CA372777110 | DMRT1 | c.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 |
9 | g.894160C>T | CA372777108 | DMRT1 | c.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) | |
9 | g.894163_894171del | CA463850575 | DMRT1 | c.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) | |
9 | g.894161C>A | CA372777112 | DMRT1 | c.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) | |
9 | g.894161C>G | CA372777111 | DMRT1 | c.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) | |
9 | g.894161C>T | CA372777114 | DMRT1 | c.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) | |
9 | g.894162T>A | CA463850583 | DMRT1 | c.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=) | |
9 | g.894162T>C | CA463850584 | DMRT1 | c.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=) | |
9 | g.894162T>G | CA4961653 | DMRT1 | c.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 |
9 | g.894162T= | CA1827190887 | DMRT1 | c.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=) | |
9 | g.894163_894165del | CA2579288533 | DMRT1 | c.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 |
9 | g.894163T>A | CA372777118 | DMRT1 | c.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) | |
9 | g.894163T>C | CA4961654 | DMRT1 | c.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 |
9 | g.894163T>G | CA372777120 | DMRT1 | c.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 |
9 | g.894163T= | CA1827190889 | DMRT1 | c.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=) | |
9 | g.894164A>C | CA372777122 | DMRT1 | c.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) | |
9 | g.894164A>G | CA372777124 | DMRT1 | c.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) | |
9 | g.894164A>T | CA372777125 | DMRT1 | c.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 |
9 | g.894165T>A | CA372777127 | DMRT1 | c.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) | |
9 | g.894165T>C | CA463850594 | DMRT1 | c.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 |
9 | g.894165T>G | CA372777129 | DMRT1 | c.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) | |
9 | g.894166G>A | CA4961655 | DMRT1 | c.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 |
9 | g.894166G>C | CA372777131 | DMRT1 | c.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) | |
9 | g.894166G= | CA1827190891 | DMRT1 | c.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=) | |
9 | g.894166G>T | CA372777133 | DMRT1 | c.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 |
9 | g.894167T>A | CA372777134 | DMRT1 | c.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) | |
9 | g.894167T>C | CA372777135 | DMRT1 | c.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) | |
9 | g.894167T>G | CA372777137 | DMRT1 | c.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) | |
9 | g.894168G>A | CA4961656 | DMRT1 | c.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 |
9 | g.894168G>C | CA4961657 | DMRT1 | c.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 |
9 | g.894168G= | CA1827190893 | DMRT1 | c.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=) | |
9 | g.894168G>T | CA463850608 | DMRT1 | c.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 |
9 | g.894169C>A | CA372777139 | DMRT1 | c.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) | |
9 | g.894169C>G | CA372777141 | DMRT1 | c.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) | |
9 | g.894169C>T | CA372777140 | DMRT1 | c.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) | |
9 | g.894170C>A | CA372777143 | DMRT1 | c.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) | |
9 | g.894170C= | CA1827190896 | DMRT1 | c.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=) | |
9 | g.894170C>G | CA4961658 | DMRT1 | c.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 |
9 | g.894170C>T | CA372777145 | DMRT1 | c.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) | |
9 | g.894171T>A | CA463850618 | DMRT1 | c.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=) | |
9 | g.894171T>C | CA463850619 | DMRT1 | c.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 |
9 | g.894171T>G | CA463850621 | DMRT1 | c.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=) | |
9 | g.894171T= | CA1827190898 | DMRT1 | c.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=) | |
9 | g.894172G>A | CA372777147 | DMRT1 | c.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) | |
9 | g.894172G>C | CA372777148 | DMRT1 | c.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) | |
9 | g.894172G>T | CA372777150 | DMRT1 | c.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 |
9 | g.894173G>A | CA4961659 | DMRT1 | c.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 |
9 | g.894173G>C | CA372777154 | DMRT1 | c.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) | |
9 | g.894173G= | CA1827190900 | DMRT1 | c.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=) | |
9 | g.894173G>T | CA372777155 | DMRT1 | c.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 |
9 | g.894174T>A | CA463850631 | DMRT1 | c.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=) | |
9 | g.894174T>C | CA4961660 | DMRT1 | c.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 |
9 | g.894174T>G | CA463850630 | DMRT1 | c.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 |
9 | g.894174T= | CA1827190902 | DMRT1 | c.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=) | |
9 | g.894175C>A | CA372777160 | DMRT1 | c.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) | |
9 | g.894175C= | CA1827190905 | DMRT1 | c.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=) | |
9 | g.894175C>G | CA4961661 | DMRT1 | c.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 |
9 | g.894175C>T | CA372777158 | DMRT1 | c.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) | |
9 | g.894176A= | CA1827190907 | DMRT1 | c.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=) | |
9 | g.894176A>C | CA372777161 | DMRT1 | c.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) | |
9 | g.894176A>G | CA372777163 | DMRT1 | c.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) | |
9 | g.894176A>T | CA372777165 | DMRT1 | c.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) | |
9 | g.894177G>A | CA4961663 | DMRT1 | c.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 |
9 | g.894177G>C | CA187865214 | DMRT1 | c.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 |
9 | g.894177G= | CA1827190909 | DMRT1 | c.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=) | |
9 | g.894177G>T | CA372777169 | DMRT1 | c.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) | |
9 | g.894177_894182dup | CA4961662 | DMRT1 | c.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 |
9 | g.894178A>C | CA372777170 | DMRT1 | c.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) | |
9 | g.894178A>G | CA372777173 | DMRT1 | c.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) | |
9 | g.894178A>T | CA372777171 | DMRT1 | c.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) | |
9 | g.894179C>A | CA372777175 | DMRT1 | c.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) | |
9 | g.894179C>G | CA372777177 | DMRT1 | c.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) | |
9 | g.894179C>T | CA372777178 | DMRT1 | c.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 |
9 | g.894180A= | CA1827190911 | DMRT1 | c.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=) | |
9 | g.894180A>C | CA463850657 | DMRT1 | c.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=) | |
9 | g.894180A>G | CA4961664 | DMRT1 | c.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 |
9 | g.894180A>T | CA463850659 | DMRT1 | c.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=) | |
9 | g.894181G>A | CA372777180 | DMRT1 | c.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) | |
9 | g.894181G>C | CA372777185 | DMRT1 | c.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) | |
9 | g.894181G>T | CA372777183 | DMRT1 | c.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 |
9 | g.894182G>A | CA372777186 | DMRT1 | c.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) | |
9 | g.894182G>C | CA372777187 | DMRT1 | c.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 |
9 | g.894182G>T | CA372777189 | DMRT1 | c.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) | |
9 | g.894183A>C | CA463850663 | DMRT1 | c.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=) | |
9 | g.894183A>G | CA463850665 | DMRT1 | c.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=) | |
9 | g.894183A>T | CA463850668 | DMRT1 | c.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=) | |
9 | g.894184A>C | CA372777191 | DMRT1 | c.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) | |
9 | g.894184A>G | CA372777193 | DMRT1 | c.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) | |
9 | g.894184A>T | CA372777194 | DMRT1 | c.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) | |
9 | g.894185A>C | CA372777196 | DMRT1 | c.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) | |
9 | g.894185A>G | CA372777198 | DMRT1 | c.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) | |
9 | g.894185A>T | CA372777200 | DMRT1 | c.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) | |
9 | g.894186C>A | CA372777201 | DMRT1 | c.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) | |
9 | g.894186C= | CA1827190913 | DMRT1 | c.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=) | |
9 | g.894186C>G | CA372777202 | DMRT1 | c.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) | |
9 | g.894186C>T | CA463850672 | DMRT1 | c.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 |
9 | g.894187C>A | CA372777206 | DMRT1 | c.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) | |
9 | g.894187C>G | CA372777205 | DMRT1 | c.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) | |
9 | g.894187C>T | CA372777203 | DMRT1 | c.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) | |
9 | g.894188A= | CA1827190914 | DMRT1 | c.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=) | |
9 | g.894188A>C | CA372777207 | DMRT1 | c.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) | |
9 | g.894188A>G | CA4961665 | DMRT1 | c.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 |
9 | g.894188A>T | CA372777209 | DMRT1 | c.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) | |
9 | g.894189G>A | CA463850679 | DMRT1 | c.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=) | |
9 | g.894189G>C | CA372777211 | DMRT1 | c.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) | |
9 | g.894189G>T | CA372777212 | DMRT1 | c.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) | |
9 | g.894190T>A | CA372777214 | DMRT1 | c.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) | |
9 | g.894190T>C | CA372777215 | DMRT1 | c.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) | |
9 | g.894190T>G | CA372777217 | DMRT1 | c.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) | |
9 | g.894191G>A | CA372777219 | DMRT1 | c.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) | |
9 | g.894191G>C | CA372777220 | DMRT1 | c.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) | |
9 | g.894191G>T | CA372777221 | DMRT1 | c.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) | |
9 | g.894192G>A | CA372777223 | DMRT1 | c.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) | |
9 | g.894192G>C | CA372777225 | DMRT1 | c.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) | |
9 | g.894192G>T | CA372777227 | DMRT1 | c.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) | |
9 | g.894193C>A | CA372777230 | DMRT1 | c.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) | |
9 | g.894193C= | CA1827190916 | DMRT1 | c.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=) | |
9 | g.894193C>G | CA4961666 | DMRT1 | c.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 |
9 | g.894193C>T | CA372777228 | DMRT1 | c.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) | |
9 | g.894194A= | CA1827190918 | DMRT1 | c.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=) | |
9 | g.894194A>C | CA372777231 | DMRT1 | c.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) | |
9 | g.894194A>G | CA187865269 | DMRT1 | c.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 |
9 | g.894194A>T | CA372777233 | DMRT1 | c.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) | |
9 | g.894195G>A | CA463850300 | DMRT1 | c.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 |
9 | g.894195G>C | CA372777234 | DMRT1 | c.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) | |
9 | g.894195G>T | CA372777235 | DMRT1 | c.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) | |
9 | g.894196G>A | CA372777236 | DMRT1 | c.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) | |
9 | g.894196G>C | CA372777237 | DMRT1 | c.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 |
9 | g.894196G>T | CA372777239 | DMRT1 | c.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) | |
9 | g.894197T>A | CA372777241 | DMRT1 | c.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) | |
9 | g.894197T>C | CA372777242 | DMRT1 | c.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) | |
9 | g.894197T>G | CA4961667 | DMRT1 | c.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 |
9 | g.894197T= | CA1827190920 | DMRT1 | c.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=) | |
9 | g.894197_894206delinsTATGATATTA | CA1827190921 | DMRT1 | c.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) | |
9 | g.894198A= | CA1827190924 | DMRT1 | c.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=) | |
9 | g.894198A>G | CA4961668 | DMRT1 | c.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 |
9 | g.894200_894208del | CA586167798 | DMRT1 | c.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 |
9 | g.894199del | CA2579288534 | DMRT1 | c.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) | |
9 | g.894199T>A | CA2689223482 | DMRT1 | c.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 |
9 | g.894199T>G | CA586167799 | DMRT1 | c.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 |
9 | g.894199T= | CA1827190925 | DMRT1 | c.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=) | |
9 | g.894200G>A | CA2579288535 | DMRT1 | c.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) | |
9 | g.894200G>T | CA2579288536 | DMRT1 | c.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) | |
9 | g.894201A= | CA1827190927 | DMRT1 | c.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=) | |
9 | g.894201A>G | CA2689223483 | DMRT1 | c.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 |
9 | g.894201A>T | CA1827190928 | DMRT1 | c.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 |
9 | g.894203A= | CA1827190930 | DMRT1 | c.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=) | |
9 | g.894203A>G | CA868206328 | DMRT1 | c.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 |
9 | g.894204T>C | CA1120422121 | DMRT1 | c.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 |
9 | g.894204T= | CA1827190931 | DMRT1 | c.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=) | |
9 | g.894205T>C | CA2579288537 | DMRT1 | c.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) | |
9 | g.894206A= | CA1827190933 | DMRT1 | c.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=) | |
9 | g.894206A>C | CA586167800 | DMRT1 | c.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 |