| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.893944G>A | CA372776381 | DMRT1 | c.571G>A (p.Val191Ile) n.720G>A c.97G>A (p.Val33Ile) c.619G>A (p.Val207Ile) c.587-22819G>A (n.587-22819G>A) c.539-22819G>A (n.539-22819G>A) c.25G>A (p.Val9Ile) | dbSNP gnomAD v4 |
| 9 | g.893944G>C | CA372776382 | DMRT1 | c.571G>C (p.Val191Leu) n.720G>C c.97G>C (p.Val33Leu) c.619G>C (p.Val207Leu) c.587-22819G>C (n.587-22819G>C) c.539-22819G>C (n.539-22819G>C) c.25G>C (p.Val9Leu) | dbSNP gnomAD v2 |
| 9 | g.893944G= | CA1827190593 | DMRT1 | c.571G= (p.Val191=) n.720G= c.97G= (p.Val33=) c.619G= (p.Val207=) c.587-22819G= (n.587-22819G=) c.539-22819G= (n.539-22819G=) c.25G= (p.Val9=) | |
| 9 | g.893944G>T | CA372776379 | DMRT1 | c.571G>T (p.Val191Phe) n.720G>T c.97G>T (p.Val33Phe) c.619G>T (p.Val207Phe) c.587-22819G>T (n.587-22819G>T) c.539-22819G>T (n.539-22819G>T) c.25G>T (p.Val9Phe) | |
| 9 | g.893945T>A | CA372776386 | DMRT1 | c.572T>A (p.Val191Asp) n.721T>A c.98T>A (p.Val33Asp) c.620T>A (p.Val207Asp) c.587-22818T>A (n.587-22818T>A) c.539-22818T>A (n.539-22818T>A) c.26T>A (p.Val9Asp) | gnomAD v4 |
| 9 | g.893945T>C | CA372776384 | DMRT1 | c.572T>C (p.Val191Ala) n.721T>C c.98T>C (p.Val33Ala) c.620T>C (p.Val207Ala) c.587-22818T>C (n.587-22818T>C) c.539-22818T>C (n.539-22818T>C) c.26T>C (p.Val9Ala) | COSMIC |
| 9 | g.893945T>G | CA372776387 | DMRT1 | c.572T>G (p.Val191Gly) n.721T>G c.98T>G (p.Val33Gly) c.620T>G (p.Val207Gly) c.587-22818T>G (n.587-22818T>G) c.539-22818T>G (n.539-22818T>G) c.26T>G (p.Val9Gly) | gnomAD v4 |
| 9 | g.893946C>A | CA463850285 | DMRT1 | c.573C>A (p.Val191=) n.722C>A c.99C>A (p.Val33=) c.621C>A (p.Val207=) c.587-22817C>A (n.587-22817C>A) c.539-22817C>A (n.539-22817C>A) c.27C>A (p.Val9=) | |
| 9 | g.893946C>G | CA463850286 | DMRT1 | c.573C>G (p.Val191=) n.722C>G c.99C>G (p.Val33=) c.621C>G (p.Val207=) c.587-22817C>G (n.587-22817C>G) c.539-22817C>G (n.539-22817C>G) c.27C>G (p.Val9=) | |
| 9 | g.893946C>T | CA463850287 | DMRT1 | c.573C>T (p.Val191=) n.722C>T c.99C>T (p.Val33=) c.621C>T (p.Val207=) c.587-22817C>T (n.587-22817C>T) c.539-22817C>T (n.539-22817C>T) c.27C>T (p.Val9=) | gnomAD v4 |
| 9 | g.893947A= | CA1827190594 | DMRT1 | c.574A= (p.Thr192=) n.723A= c.100A= (p.Thr34=) c.622A= (p.Thr208=) c.587-22816A= (n.587-22816A=) c.539-22816A= (n.539-22816A=) c.28A= (p.Thr10=) | |
| 9 | g.893947A>C | CA372776388 | DMRT1 | c.574A>C (p.Thr192Pro) n.723A>C c.100A>C (p.Thr34Pro) c.622A>C (p.Thr208Pro) c.587-22816A>C (n.587-22816A>C) c.539-22816A>C (n.539-22816A>C) c.28A>C (p.Thr10Pro) | |
| 9 | g.893947A>G | CA372776390 | DMRT1 | c.574A>G (p.Thr192Ala) n.723A>G c.100A>G (p.Thr34Ala) c.622A>G (p.Thr208Ala) c.587-22816A>G (n.587-22816A>G) c.539-22816A>G (n.539-22816A>G) c.28A>G (p.Thr10Ala) | COSMIC |
| 9 | g.893947A>T | CA372776389 | DMRT1 | c.574A>T (p.Thr192Ser) n.723A>T c.100A>T (p.Thr34Ser) c.622A>T (p.Thr208Ser) c.587-22816A>T (n.587-22816A>T) c.539-22816A>T (n.539-22816A>T) c.28A>T (p.Thr10Ser) | dbSNP |
| 9 | g.893948C>A | CA372776392 | DMRT1 | c.575C>A (p.Thr192Asn) n.724C>A c.101C>A (p.Thr34Asn) c.623C>A (p.Thr208Asn) c.587-22815C>A (n.587-22815C>A) c.539-22815C>A (n.539-22815C>A) c.29C>A (p.Thr10Asn) | |
| 9 | g.893948C= | CA1827190596 | DMRT1 | c.575C= (p.Thr192=) n.724C= c.101C= (p.Thr34=) c.623C= (p.Thr208=) c.587-22815C= (n.587-22815C=) c.539-22815C= (n.539-22815C=) c.29C= (p.Thr10=) | |
| 9 | g.893948C>G | CA372776394 | DMRT1 | c.575C>G (p.Thr192Ser) n.724C>G c.101C>G (p.Thr34Ser) c.623C>G (p.Thr208Ser) c.587-22815C>G (n.587-22815C>G) c.539-22815C>G (n.539-22815C>G) c.29C>G (p.Thr10Ser) | |
| 9 | g.893948C>T | CA372776393 | DMRT1 | c.575C>T (p.Thr192Ile) n.724C>T c.101C>T (p.Thr34Ile) c.623C>T (p.Thr208Ile) c.587-22815C>T (n.587-22815C>T) c.539-22815C>T (n.539-22815C>T) c.29C>T (p.Thr10Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.893949C>A | CA463850288 | DMRT1 | c.576C>A (p.Thr192=) n.725C>A c.102C>A (p.Thr34=) c.624C>A (p.Thr208=) c.587-22814C>A (n.587-22814C>A) c.539-22814C>A (n.539-22814C>A) c.30C>A (p.Thr10=) | |
| 9 | g.893949C= | CA1827190599 | DMRT1 | c.576C= (p.Thr192=) n.725C= c.102C= (p.Thr34=) c.624C= (p.Thr208=) c.587-22814C= (n.587-22814C=) c.539-22814C= (n.539-22814C=) c.30C= (p.Thr10=) | |
| 9 | g.893949C>G | CA4961609 | DMRT1 | c.576C>G (p.Thr192=) n.725C>G c.102C>G (p.Thr34=) c.624C>G (p.Thr208=) c.587-22814C>G (n.587-22814C>G) c.539-22814C>G (n.539-22814C>G) c.30C>G (p.Thr10=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.893949C>T | CA463850289 | DMRT1 | c.576C>T (p.Thr192=) n.725C>T c.102C>T (p.Thr34=) c.624C>T (p.Thr208=) c.587-22814C>T (n.587-22814C>T) c.539-22814C>T (n.539-22814C>T) c.30C>T (p.Thr10=) | |
| 9 | g.893950A>C | CA372776401 | DMRT1 | c.577A>C (p.Ser193Arg) n.726A>C c.103A>C (p.Ser35Arg) c.625A>C (p.Ser209Arg) c.587-22813A>C (n.587-22813A>C) c.539-22813A>C (n.539-22813A>C) c.31A>C (p.Ser11Arg) | |
| 9 | g.893950A>G | CA372776397 | DMRT1 | c.577A>G (p.Ser193Gly) n.726A>G c.103A>G (p.Ser35Gly) c.625A>G (p.Ser209Gly) c.587-22813A>G (n.587-22813A>G) c.539-22813A>G (n.539-22813A>G) c.31A>G (p.Ser11Gly) | |
| 9 | g.893950A>T | CA372776399 | DMRT1 | c.577A>T (p.Ser193Cys) n.726A>T c.103A>T (p.Ser35Cys) c.625A>T (p.Ser209Cys) c.587-22813A>T (n.587-22813A>T) c.539-22813A>T (n.539-22813A>T) c.31A>T (p.Ser11Cys) | |
| 9 | g.893951G>A | CA372776405 | DMRT1 | c.578G>A (p.Ser193Asn) n.727G>A c.104G>A (p.Ser35Asn) c.626G>A (p.Ser209Asn) c.587-22812G>A (n.587-22812G>A) c.539-22812G>A (n.539-22812G>A) c.32G>A (p.Ser11Asn) | COSMIC |
| 9 | g.893951G>C | CA372776406 | DMRT1 | c.578G>C (p.Ser193Thr) n.727G>C c.104G>C (p.Ser35Thr) c.626G>C (p.Ser209Thr) c.587-22812G>C (n.587-22812G>C) c.539-22812G>C (n.539-22812G>C) c.32G>C (p.Ser11Thr) | |
| 9 | g.893951G>T | CA372776408 | DMRT1 | c.578G>T (p.Ser193Ile) n.727G>T c.104G>T (p.Ser35Ile) c.626G>T (p.Ser209Ile) c.587-22812G>T (n.587-22812G>T) c.539-22812G>T (n.539-22812G>T) c.32G>T (p.Ser11Ile) | |
| 9 | g.893952C>A | CA372776410 | DMRT1 | c.579C>A (p.Ser193Arg) n.728C>A c.105C>A (p.Ser35Arg) c.627C>A (p.Ser209Arg) c.587-22811C>A (n.587-22811C>A) c.539-22811C>A (n.539-22811C>A) c.33C>A (p.Ser11Arg) | |
| 9 | g.893952C>G | CA372776411 | DMRT1 | c.579C>G (p.Ser193Arg) n.728C>G c.105C>G (p.Ser35Arg) c.627C>G (p.Ser209Arg) c.587-22811C>G (n.587-22811C>G) c.539-22811C>G (n.539-22811C>G) c.33C>G (p.Ser11Arg) | |
| 9 | g.893952C>T | CA463850290 | DMRT1 | c.579C>T (p.Ser193=) n.728C>T c.105C>T (p.Ser35=) c.627C>T (p.Ser209=) c.587-22811C>T (n.587-22811C>T) c.539-22811C>T (n.539-22811C>T) c.33C>T (p.Ser11=) | dbSNP |
| 9 | g.893953A>C | CA463850291 | DMRT1 | c.580A>C (p.Arg194=) n.729A>C c.106A>C (p.Arg36=) c.628A>C (p.Arg210=) c.587-22810A>C (n.587-22810A>C) c.539-22810A>C (n.539-22810A>C) c.34A>C (p.Arg12=) | |
| 9 | g.893953A>G | CA372776413 | DMRT1 | c.580A>G (p.Arg194Gly) n.729A>G c.106A>G (p.Arg36Gly) c.628A>G (p.Arg210Gly) c.587-22810A>G (n.587-22810A>G) c.539-22810A>G (n.539-22810A>G) c.34A>G (p.Arg12Gly) | |
| 9 | g.893953A>T | CA372776415 | DMRT1 | c.580A>T (p.Arg194Ter) n.729A>T c.106A>T (p.Arg36Ter) c.628A>T (p.Arg210Ter) c.587-22810A>T (n.587-22810A>T) c.539-22810A>T (n.539-22810A>T) c.34A>T (p.Arg12Ter) | |
| 9 | g.893954G>A | CA372776418 | DMRT1 | c.581G>A (p.Arg194Lys) n.730G>A c.107G>A (p.Arg36Lys) c.629G>A (p.Arg210Lys) c.587-22809G>A (n.587-22809G>A) c.539-22809G>A (n.539-22809G>A) c.35G>A (p.Arg12Lys) | |
| 9 | g.893954G>C | CA372776419 | DMRT1 | c.581G>C (p.Arg194Thr) n.730G>C c.107G>C (p.Arg36Thr) c.629G>C (p.Arg210Thr) c.587-22809G>C (n.587-22809G>C) c.539-22809G>C (n.539-22809G>C) c.35G>C (p.Arg12Thr) | |
| 9 | g.893954G>T | CA372776420 | DMRT1 | c.581G>T (p.Arg194Ile) n.730G>T c.107G>T (p.Arg36Ile) c.629G>T (p.Arg210Ile) c.587-22809G>T (n.587-22809G>T) c.539-22809G>T (n.539-22809G>T) c.35G>T (p.Arg12Ile) | |
| 9 | g.893955A>C | CA372776422 | DMRT1 | c.582A>C (p.Arg194Ser) n.731A>C c.108A>C (p.Arg36Ser) c.630A>C (p.Arg210Ser) c.587-22808A>C (n.587-22808A>C) c.539-22808A>C (n.539-22808A>C) c.36A>C (p.Arg12Ser) | |
| 9 | g.893955A>G | CA463850292 | DMRT1 | c.582A>G (p.Arg194=) n.731A>G c.108A>G (p.Arg36=) c.630A>G (p.Arg210=) c.587-22808A>G (n.587-22808A>G) c.539-22808A>G (n.539-22808A>G) c.36A>G (p.Arg12=) | |
| 9 | g.893955A>T | CA372776421 | DMRT1 | c.582A>T (p.Arg194Ser) n.731A>T c.108A>T (p.Arg36Ser) c.630A>T (p.Arg210Ser) c.587-22808A>T (n.587-22808A>T) c.539-22808A>T (n.539-22808A>T) c.36A>T (p.Arg12Ser) | |
| 9 | g.893956G>A | CA372776423 | DMRT1 | c.583G>A (p.Gly195Arg) n.732G>A c.109G>A (p.Gly37Arg) c.631G>A (p.Gly211Arg) c.587-22807G>A (n.587-22807G>A) c.539-22807G>A (n.539-22807G>A) c.37G>A (p.Gly13Arg) | |
| 9 | g.893956G>C | CA372776425 | DMRT1 | c.583G>C (p.Gly195Arg) n.732G>C c.109G>C (p.Gly37Arg) c.631G>C (p.Gly211Arg) c.587-22807G>C (n.587-22807G>C) c.539-22807G>C (n.539-22807G>C) c.37G>C (p.Gly13Arg) | |
| 9 | g.893956G>T | CA372776426 | DMRT1 | c.583G>T (p.Gly195Trp) n.732G>T c.109G>T (p.Gly37Trp) c.631G>T (p.Gly211Trp) c.587-22807G>T (n.587-22807G>T) c.539-22807G>T (n.539-22807G>T) c.37G>T (p.Gly13Trp) | |
| 9 | g.893957G>A | CA372776427 | DMRT1 | c.584G>A (p.Gly195Glu) n.733G>A c.110G>A (p.Gly37Glu) c.632G>A (p.Gly211Glu) c.587-22806G>A (n.587-22806G>A) c.539-22806G>A (n.539-22806G>A) c.38G>A (p.Gly13Glu) | dbSNP |
| 9 | g.893957G>C | CA372776429 | DMRT1 | c.584G>C (p.Gly195Ala) n.733G>C c.110G>C (p.Gly37Ala) c.632G>C (p.Gly211Ala) c.587-22806G>C (n.587-22806G>C) c.539-22806G>C (n.539-22806G>C) c.38G>C (p.Gly13Ala) | |
| 9 | g.893957G= | CA1827190602 | DMRT1 | c.584G= (p.Gly195=) n.733G= c.110G= (p.Gly37=) c.632G= (p.Gly211=) c.587-22806G= (n.587-22806G=) c.539-22806G= (n.539-22806G=) c.38G= (p.Gly13=) | |
| 9 | g.893957G>T | CA372776431 | DMRT1 | c.584G>T (p.Gly195Val) n.733G>T c.110G>T (p.Gly37Val) c.632G>T (p.Gly211Val) c.587-22806G>T (n.587-22806G>T) c.539-22806G>T (n.539-22806G>T) c.38G>T (p.Gly13Val) | |
| 9 | g.893958G>A | CA463850293 | DMRT1 | c.585G>A (p.Gly195=) n.734G>A c.111G>A (p.Gly37=) c.633G>A (p.Gly211=) c.587-22805G>A (n.587-22805G>A) c.539-22805G>A (n.539-22805G>A) c.39G>A (p.Gly13=) | |
| 9 | g.893958G>C | CA463850295 | DMRT1 | c.585G>C (p.Gly195=) n.734G>C c.111G>C (p.Gly37=) c.633G>C (p.Gly211=) c.587-22805G>C (n.587-22805G>C) c.539-22805G>C (n.539-22805G>C) c.39G>C (p.Gly13=) | |
| 9 | g.893958G= | CA1827190605 | DMRT1 | c.585G= (p.Gly195=) n.734G= c.111G= (p.Gly37=) c.633G= (p.Gly211=) c.587-22805G= (n.587-22805G=) c.539-22805G= (n.539-22805G=) c.39G= (p.Gly13=) |