UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 9 | g.893958G>T | CA463850294 | DMRT1 | c.585G>T (p.Gly195=) n.734G>T c.111G>T (p.Gly37=) c.633G>T (p.Gly211=) c.587-22805G>T (n.587-22805G>T) c.539-22805G>T (n.539-22805G>T) c.39G>T (p.Gly13=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.893959C>A | CA372776433 | DMRT1 | c.586C>A (p.His196Asn) n.735C>A c.112C>A (p.His38Asn) c.634C>A (p.His212Asn) c.587-22804C>A (n.587-22804C>A) c.539-22804C>A (n.539-22804C>A) c.40C>A (p.His14Asn) | |
| 9 | g.893959C= | CA1827190608 | DMRT1 | c.586C= (p.His196=) n.735C= c.112C= (p.His38=) c.634C= (p.His212=) c.587-22804C= (n.587-22804C=) c.539-22804C= (n.539-22804C=) c.40C= (p.His14=) | |
| 9 | g.893959C>G | CA372776434 | DMRT1 | c.586C>G (p.His196Asp) n.735C>G c.112C>G (p.His38Asp) c.634C>G (p.His212Asp) c.587-22804C>G (n.587-22804C>G) c.539-22804C>G (n.539-22804C>G) c.40C>G (p.His14Asp) | |
| 9 | g.893959C>T | CA372776436 | DMRT1 | c.586C>T (p.His196Tyr) n.735C>T c.112C>T (p.His38Tyr) c.634C>T (p.His212Tyr) c.587-22804C>T (n.587-22804C>T) c.539-22804C>T (n.539-22804C>T) c.40C>T (p.His14Tyr) | dbSNP gnomAD v4 |
| 9 | g.893960A= | CA1827190613 | DMRT1 | c.587A= (p.His196=) n.736A= c.113A= (p.His38=) c.635A= (p.His212=) c.587-22803A= (n.587-22803A=) c.539-22803A= (n.539-22803A=) c.41A= (p.His14=) | |
| 9 | g.893960A>C | CA372776437 | DMRT1 | c.587A>C (p.His196Pro) n.736A>C c.113A>C (p.His38Pro) c.635A>C (p.His212Pro) c.587-22803A>C (n.587-22803A>C) c.539-22803A>C (n.539-22803A>C) c.41A>C (p.His14Pro) | |
| 9 | g.893960A>G | CA372776439 | DMRT1 | c.587A>G (p.His196Arg) n.736A>G c.113A>G (p.His38Arg) c.635A>G (p.His212Arg) c.587-22803A>G (n.587-22803A>G) c.539-22803A>G (n.539-22803A>G) c.41A>G (p.His14Arg) | dbSNP |
| 9 | g.893960A>T | CA372776440 | DMRT1 | c.587A>T (p.His196Leu) n.736A>T c.113A>T (p.His38Leu) c.635A>T (p.His212Leu) c.587-22803A>T (n.587-22803A>T) c.539-22803A>T (n.539-22803A>T) c.41A>T (p.His14Leu) | |
| 9 | g.893961T>A | CA372776441 | DMRT1 | c.588T>A (p.His196Gln) n.737T>A c.114T>A (p.His38Gln) c.636T>A (p.His212Gln) c.587-22802T>A (n.587-22802T>A) c.539-22802T>A (n.539-22802T>A) c.42T>A (p.His14Gln) | |
| 9 | g.893961T>C | CA463850296 | DMRT1 | c.588T>C (p.His196=) n.737T>C c.114T>C (p.His38=) c.636T>C (p.His212=) c.587-22802T>C (n.587-22802T>C) c.539-22802T>C (n.539-22802T>C) c.42T>C (p.His14=) | dbSNP |
| 9 | g.893961T>G | CA372776442 | DMRT1 | c.588T>G (p.His196Gln) n.737T>G c.114T>G (p.His38Gln) c.636T>G (p.His212Gln) c.587-22802T>G (n.587-22802T>G) c.539-22802T>G (n.539-22802T>G) c.42T>G (p.His14Gln) | |
| 9 | g.893962G>A | CA372776443 | DMRT1 | c.589G>A (p.Val197Met) n.738G>A c.115G>A (p.Val39Met) c.637G>A (p.Val213Met) c.587-22801G>A (n.587-22801G>A) c.539-22801G>A (n.539-22801G>A) c.43G>A (p.Val15Met) | dbSNP gnomAD v4 |
| 9 | g.893962G>C | CA372776444 | DMRT1 | c.589G>C (p.Val197Leu) n.738G>C c.115G>C (p.Val39Leu) c.637G>C (p.Val213Leu) c.587-22801G>C (n.587-22801G>C) c.539-22801G>C (n.539-22801G>C) c.43G>C (p.Val15Leu) | |
| 9 | g.893962G= | CA1827190615 | DMRT1 | c.589G= (p.Val197=) n.738G= c.115G= (p.Val39=) c.637G= (p.Val213=) c.587-22801G= (n.587-22801G=) c.539-22801G= (n.539-22801G=) c.43G= (p.Val15=) | |
| 9 | g.893962G>T | CA372776445 | DMRT1 | c.589G>T (p.Val197Leu) n.738G>T c.115G>T (p.Val39Leu) c.637G>T (p.Val213Leu) c.587-22801G>T (n.587-22801G>T) c.539-22801G>T (n.539-22801G>T) c.43G>T (p.Val15Leu) | gnomAD v4 |
| 9 | g.893963T>A | CA372776447 | DMRT1 | c.590T>A (p.Val197Glu) n.739T>A c.116T>A (p.Val39Glu) c.638T>A (p.Val213Glu) c.587-22800T>A (n.587-22800T>A) c.539-22800T>A (n.539-22800T>A) c.44T>A (p.Val15Glu) | |
| 9 | g.893963T>C | CA372776449 | DMRT1 | c.590T>C (p.Val197Ala) n.739T>C c.116T>C (p.Val39Ala) c.638T>C (p.Val213Ala) c.587-22800T>C (n.587-22800T>C) c.539-22800T>C (n.539-22800T>C) c.44T>C (p.Val15Ala) | |
| 9 | g.893963T>G | CA372776450 | DMRT1 | c.590T>G (p.Val197Gly) n.739T>G c.116T>G (p.Val39Gly) c.638T>G (p.Val213Gly) c.587-22800T>G (n.587-22800T>G) c.539-22800T>G (n.539-22800T>G) c.44T>G (p.Val15Gly) | gnomAD v4 |
| 9 | g.893964G>A | CA463850297 | DMRT1 | c.591G>A (p.Val197=) n.740G>A c.117G>A (p.Val39=) c.639G>A (p.Val213=) c.587-22799G>A (n.587-22799G>A) c.539-22799G>A (n.539-22799G>A) c.45G>A (p.Val15=) | |
| 9 | g.893964G>C | CA463850298 | DMRT1 | c.591G>C (p.Val197=) n.740G>C c.117G>C (p.Val39=) c.639G>C (p.Val213=) c.587-22799G>C (n.587-22799G>C) c.539-22799G>C (n.539-22799G>C) c.45G>C (p.Val15=) | |
| 9 | g.893964G>T | CA463850299 | DMRT1 | c.591G>T (p.Val197=) n.740G>T c.117G>T (p.Val39=) c.639G>T (p.Val213=) c.587-22799G>T (n.587-22799G>T) c.539-22799G>T (n.539-22799G>T) c.45G>T (p.Val15=) | |
| 9 | g.893965G>A | CA372776452 | DMRT1 | c.592G>A (p.Glu198Lys) n.741G>A c.118G>A (p.Glu40Lys) c.640G>A (p.Glu214Lys) c.587-22798G>A (n.587-22798G>A) c.539-22798G>A (n.539-22798G>A) c.46G>A (p.Glu16Lys) | |
| 9 | g.893965G>C | CA372776453 | DMRT1 | c.592G>C (p.Glu198Gln) n.741G>C c.118G>C (p.Glu40Gln) c.640G>C (p.Glu214Gln) c.587-22798G>C (n.587-22798G>C) c.539-22798G>C (n.539-22798G>C) c.46G>C (p.Glu16Gln) | |
| 9 | g.893965G>T | CA372776455 | DMRT1 | c.592G>T (p.Glu198Ter) n.741G>T c.118G>T (p.Glu40Ter) c.640G>T (p.Glu214Ter) c.587-22798G>T (n.587-22798G>T) c.539-22798G>T (n.539-22798G>T) c.46G>T (p.Glu16Ter) | |
| 9 | g.893966A= | CA1827190618 | DMRT1 | c.593A= (p.Glu198=) n.742A= c.119A= (p.Glu40=) c.641A= (p.Glu214=) c.587-22797A= (n.587-22797A=) c.539-22797A= (n.539-22797A=) c.47A= (p.Glu16=) | |
| 9 | g.893966A>C | CA372776456 | DMRT1 | c.593A>C (p.Glu198Ala) n.742A>C c.119A>C (p.Glu40Ala) c.641A>C (p.Glu214Ala) c.587-22797A>C (n.587-22797A>C) c.539-22797A>C (n.539-22797A>C) c.47A>C (p.Glu16Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.893966A>G | CA372776458 | DMRT1 | c.593A>G (p.Glu198Gly) n.742A>G c.119A>G (p.Glu40Gly) c.641A>G (p.Glu214Gly) c.587-22797A>G (n.587-22797A>G) c.539-22797A>G (n.539-22797A>G) c.47A>G (p.Glu16Gly) | |
| 9 | g.893966A>T | CA372776459 | DMRT1 | c.593A>T (p.Glu198Val) n.742A>T c.119A>T (p.Glu40Val) c.641A>T (p.Glu214Val) c.587-22797A>T (n.587-22797A>T) c.539-22797A>T (n.539-22797A>T) c.47A>T (p.Glu16Val) | |
| 9 | g.893967G>A | CA4961610 | DMRT1 | c.594G>A (p.Glu198=) n.743G>A c.120G>A (p.Glu40=) c.642G>A (p.Glu214=) c.587-22796G>A (n.587-22796G>A) c.539-22796G>A (n.539-22796G>A) c.48G>A (p.Glu16=) | dbSNP ExAC gnomAD v2 |
| 9 | g.893967G>C | CA187864877 | DMRT1 | c.594G>C (p.Glu198Asp) n.743G>C c.120G>C (p.Glu40Asp) c.642G>C (p.Glu214Asp) c.587-22796G>C (n.587-22796G>C) c.539-22796G>C (n.539-22796G>C) c.48G>C (p.Glu16Asp) | ClinVar dbSNP gnomAD v4 |
| 9 | g.893967G= | CA1827190622 | DMRT1 | c.594G= (p.Glu198=) n.743G= c.120G= (p.Glu40=) c.642G= (p.Glu214=) c.587-22796G= (n.587-22796G=) c.539-22796G= (n.539-22796G=) c.48G= (p.Glu16=) | |
| 9 | g.893967G>T | CA372776461 | DMRT1 | c.594G>T (p.Glu198Asp) n.743G>T c.120G>T (p.Glu40Asp) c.642G>T (p.Glu214Asp) c.587-22796G>T (n.587-22796G>T) c.539-22796G>T (n.539-22796G>T) c.48G>T (p.Glu16Asp) | |
| 9 | g.893968A= | CA1827190624 | DMRT1 | c.595A= (p.Asn199=) n.744A= c.121A= (p.Asn41=) c.643A= (p.Asn215=) c.587-22795A= (n.587-22795A=) c.539-22795A= (n.539-22795A=) c.49A= (p.Asn17=) | |
| 9 | g.893968A>C | CA372776463 | DMRT1 | c.595A>C (p.Asn199His) n.744A>C c.121A>C (p.Asn41His) c.643A>C (p.Asn215His) c.587-22795A>C (n.587-22795A>C) c.539-22795A>C (n.539-22795A>C) c.49A>C (p.Asn17His) | |
| 9 | g.893968A>G | CA372776464 | DMRT1 | c.595A>G (p.Asn199Asp) n.744A>G c.121A>G (p.Asn41Asp) c.643A>G (p.Asn215Asp) c.587-22795A>G (n.587-22795A>G) c.539-22795A>G (n.539-22795A>G) c.49A>G (p.Asn17Asp) | |
| 9 | g.893968A>T | CA372776466 | DMRT1 | c.595A>T (p.Asn199Tyr) n.744A>T c.121A>T (p.Asn41Tyr) c.643A>T (p.Asn215Tyr) c.587-22795A>T (n.587-22795A>T) c.539-22795A>T (n.539-22795A>T) c.49A>T (p.Asn17Tyr) | dbSNP |
| 9 | g.893969A>C | CA372776469 | DMRT1 | c.596A>C (p.Asn199Thr) n.745A>C c.122A>C (p.Asn41Thr) c.644A>C (p.Asn215Thr) c.587-22794A>C (n.587-22794A>C) c.539-22794A>C (n.539-22794A>C) c.50A>C (p.Asn17Thr) | |
| 9 | g.893969A>G | CA372776473 | DMRT1 | c.596A>G (p.Asn199Ser) n.745A>G c.122A>G (p.Asn41Ser) c.644A>G (p.Asn215Ser) c.587-22794A>G (n.587-22794A>G) c.539-22794A>G (n.539-22794A>G) c.50A>G (p.Asn17Ser) | gnomAD v4 |
| 9 | g.893969A>T | CA372776475 | DMRT1 | c.596A>T (p.Asn199Ile) n.745A>T c.122A>T (p.Asn41Ile) c.644A>T (p.Asn215Ile) c.587-22794A>T (n.587-22794A>T) c.539-22794A>T (n.539-22794A>T) c.50A>T (p.Asn17Ile) | |
| 9 | g.893970C>A | CA372776476 | DMRT1 | c.597C>A (p.Asn199Lys) n.746C>A c.123C>A (p.Asn41Lys) c.645C>A (p.Asn215Lys) c.587-22793C>A (n.587-22793C>A) c.539-22793C>A (n.539-22793C>A) c.51C>A (p.Asn17Lys) | |
| 9 | g.893970C>G | CA372776477 | DMRT1 | c.597C>G (p.Asn199Lys) n.746C>G c.123C>G (p.Asn41Lys) c.645C>G (p.Asn215Lys) c.587-22793C>G (n.587-22793C>G) c.539-22793C>G (n.539-22793C>G) c.51C>G (p.Asn17Lys) | |
| 9 | g.893970C>T | CA463850301 | DMRT1 | c.597C>T (p.Asn199=) n.746C>T c.123C>T (p.Asn41=) c.645C>T (p.Asn215=) c.587-22793C>T (n.587-22793C>T) c.539-22793C>T (n.539-22793C>T) c.51C>T (p.Asn17=) | |
| 9 | g.893971A>C | CA372776478 | DMRT1 | c.598A>C (p.Thr200Pro) n.747A>C c.124A>C (p.Thr42Pro) c.646A>C (p.Thr216Pro) c.587-22792A>C (n.587-22792A>C) c.539-22792A>C (n.539-22792A>C) c.52A>C (p.Thr18Pro) | |
| 9 | g.893971A>G | CA372776479 | DMRT1 | c.598A>G (p.Thr200Ala) n.747A>G c.124A>G (p.Thr42Ala) c.646A>G (p.Thr216Ala) c.587-22792A>G (n.587-22792A>G) c.539-22792A>G (n.539-22792A>G) c.52A>G (p.Thr18Ala) | |
| 9 | g.893971A>T | CA372776480 | DMRT1 | c.598A>T (p.Thr200Ser) n.747A>T c.124A>T (p.Thr42Ser) c.646A>T (p.Thr216Ser) c.587-22792A>T (n.587-22792A>T) c.539-22792A>T (n.539-22792A>T) c.52A>T (p.Thr18Ser) | |
| 9 | g.893972C>A | CA372776484 | DMRT1 | c.599C>A (p.Thr200Lys) n.748C>A c.125C>A (p.Thr42Lys) c.647C>A (p.Thr216Lys) c.587-22791C>A (n.587-22791C>A) c.539-22791C>A (n.539-22791C>A) c.53C>A (p.Thr18Lys) | |
| 9 | g.893972C= | CA1827190627 | DMRT1 | c.599C= (p.Thr200=) n.748C= c.125C= (p.Thr42=) c.647C= (p.Thr216=) c.587-22791C= (n.587-22791C=) c.539-22791C= (n.539-22791C=) c.53C= (p.Thr18=) | |
| 9 | g.893972C>G | CA372776482 | DMRT1 | c.599C>G (p.Thr200Arg) n.748C>G c.125C>G (p.Thr42Arg) c.647C>G (p.Thr216Arg) c.587-22791C>G (n.587-22791C>G) c.539-22791C>G (n.539-22791C>G) c.53C>G (p.Thr18Arg) | |
| 9 | g.893972C>T | CA187864888 | DMRT1 | c.599C>T (p.Thr200Ile) n.748C>T c.125C>T (p.Thr42Ile) c.647C>T (p.Thr216Ile) c.587-22791C>T (n.587-22791C>T) c.539-22791C>T (n.539-22791C>T) c.53C>T (p.Thr18Ile) | dbSNP |
| 9 | g.893973A= | CA1827190628 | DMRT1 | c.600A= (p.Thr200=) n.749A= c.126A= (p.Thr42=) c.648A= (p.Thr216=) c.587-22790A= (n.587-22790A=) c.539-22790A= (n.539-22790A=) c.54A= (p.Thr18=) | |
| 9 | g.893973A>C | CA463850302 | DMRT1 | c.600A>C (p.Thr200=) n.749A>C c.126A>C (p.Thr42=) c.648A>C (p.Thr216=) c.587-22790A>C (n.587-22790A>C) c.539-22790A>C (n.539-22790A>C) c.54A>C (p.Thr18=) | dbSNP |
| 9 | g.893973A>G | CA463850303 | DMRT1 | c.600A>G (p.Thr200=) n.749A>G c.126A>G (p.Thr42=) c.648A>G (p.Thr216=) c.587-22790A>G (n.587-22790A>G) c.539-22790A>G (n.539-22790A>G) c.54A>G (p.Thr18=) | |
| 9 | g.893973A>T | CA463850304 | DMRT1 | c.600A>T (p.Thr200=) n.749A>T c.126A>T (p.Thr42=) c.648A>T (p.Thr216=) c.587-22790A>T (n.587-22790A>T) c.539-22790A>T (n.539-22790A>T) c.54A>T (p.Thr18=) | |
| 9 | g.893974C>A | CA372776486 | DMRT1 | c.601C>A (p.Pro201Thr) n.750C>A c.127C>A (p.Pro43Thr) c.649C>A (p.Pro217Thr) c.587-22789C>A (n.587-22789C>A) c.539-22789C>A (n.539-22789C>A) c.55C>A (p.Pro19Thr) | dbSNP |
| 9 | g.893974C= | CA1827190631 | DMRT1 | c.601C= (p.Pro201=) n.750C= c.127C= (p.Pro43=) c.649C= (p.Pro217=) c.587-22789C= (n.587-22789C=) c.539-22789C= (n.539-22789C=) c.55C= (p.Pro19=) | |
| 9 | g.893974C>G | CA372776488 | DMRT1 | c.601C>G (p.Pro201Ala) n.750C>G c.127C>G (p.Pro43Ala) c.649C>G (p.Pro217Ala) c.587-22789C>G (n.587-22789C>G) c.539-22789C>G (n.539-22789C>G) c.55C>G (p.Pro19Ala) | |
| 9 | g.893974C>T | CA372776489 | DMRT1 | c.601C>T (p.Pro201Ser) n.750C>T c.127C>T (p.Pro43Ser) c.649C>T (p.Pro217Ser) c.587-22789C>T (n.587-22789C>T) c.539-22789C>T (n.539-22789C>T) c.55C>T (p.Pro19Ser) | |
| 9 | g.893975C>A | CA372776490 | DMRT1 | c.602C>A (p.Pro201His) n.751C>A c.128C>A (p.Pro43His) c.650C>A (p.Pro217His) c.587-22788C>A (n.587-22788C>A) c.539-22788C>A (n.539-22788C>A) c.56C>A (p.Pro19His) | |
| 9 | g.893975C= | CA1827190634 | DMRT1 | c.602C= (p.Pro201=) n.751C= c.128C= (p.Pro43=) c.650C= (p.Pro217=) c.587-22788C= (n.587-22788C=) c.539-22788C= (n.539-22788C=) c.56C= (p.Pro19=) | |
| 9 | g.893975C>G | CA372776492 | DMRT1 | c.602C>G (p.Pro201Arg) n.751C>G c.128C>G (p.Pro43Arg) c.650C>G (p.Pro217Arg) c.587-22788C>G (n.587-22788C>G) c.539-22788C>G (n.539-22788C>G) c.56C>G (p.Pro19Arg) | |
| 9 | g.893975C>T | CA4961611 | DMRT1 | c.602C>T (p.Pro201Leu) n.751C>T c.128C>T (p.Pro43Leu) c.650C>T (p.Pro217Leu) c.587-22788C>T (n.587-22788C>T) c.539-22788C>T (n.539-22788C>T) c.56C>T (p.Pro19Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.893976T>A | CA463850305 | DMRT1 | c.603T>A (p.Pro201=) n.752T>A c.129T>A (p.Pro43=) c.651T>A (p.Pro217=) c.587-22787T>A (n.587-22787T>A) c.539-22787T>A (n.539-22787T>A) c.57T>A (p.Pro19=) | |
| 9 | g.893976T>C | CA463850306 | DMRT1 | c.603T>C (p.Pro201=) n.752T>C c.129T>C (p.Pro43=) c.651T>C (p.Pro217=) c.587-22787T>C (n.587-22787T>C) c.539-22787T>C (n.539-22787T>C) c.57T>C (p.Pro19=) | |
| 9 | g.893976T>G | CA463850307 | DMRT1 | c.603T>G (p.Pro201=) n.752T>G c.129T>G (p.Pro43=) c.651T>G (p.Pro217=) c.587-22787T>G (n.587-22787T>G) c.539-22787T>G (n.539-22787T>G) c.57T>G (p.Pro19=) | |
| 9 | g.893977G>A | CA372776495 | DMRT1 | c.604G>A (p.Asp202Asn) n.753G>A c.130G>A (p.Asp44Asn) c.652G>A (p.Asp218Asn) c.587-22786G>A (n.587-22786G>A) c.539-22786G>A (n.539-22786G>A) c.58G>A (p.Asp20Asn) | dbSNP gnomAD v4 |
| 9 | g.893977G>C | CA372776496 | DMRT1 | c.604G>C (p.Asp202His) n.753G>C c.130G>C (p.Asp44His) c.652G>C (p.Asp218His) c.587-22786G>C (n.587-22786G>C) c.539-22786G>C (n.539-22786G>C) c.58G>C (p.Asp20His) | |
| 9 | g.893977G= | CA1827190636 | DMRT1 | c.604G= (p.Asp202=) n.753G= c.130G= (p.Asp44=) c.652G= (p.Asp218=) c.587-22786G= (n.587-22786G=) c.539-22786G= (n.539-22786G=) c.58G= (p.Asp20=) | |
| 9 | g.893977G>T | CA372776497 | DMRT1 | c.604G>T (p.Asp202Tyr) n.753G>T c.130G>T (p.Asp44Tyr) c.652G>T (p.Asp218Tyr) c.587-22786G>T (n.587-22786G>T) c.539-22786G>T (n.539-22786G>T) c.58G>T (p.Asp20Tyr) | |
| 9 | g.893978A= | CA1827190638 | DMRT1 | c.605A= (p.Asp202=) n.754A= c.131A= (p.Asp44=) c.653A= (p.Asp218=) c.587-22785A= (n.587-22785A=) c.539-22785A= (n.539-22785A=) c.59A= (p.Asp20=) | |
| 9 | g.893978A>C | CA372776500 | DMRT1 | c.605A>C (p.Asp202Ala) n.754A>C c.131A>C (p.Asp44Ala) c.653A>C (p.Asp218Ala) c.587-22785A>C (n.587-22785A>C) c.539-22785A>C (n.539-22785A>C) c.59A>C (p.Asp20Ala) | |
| 9 | g.893978A>G | CA372776501 | DMRT1 | c.605A>G (p.Asp202Gly) n.754A>G c.131A>G (p.Asp44Gly) c.653A>G (p.Asp218Gly) c.587-22785A>G (n.587-22785A>G) c.539-22785A>G (n.539-22785A>G) c.59A>G (p.Asp20Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.893978A>T | CA372776503 | DMRT1 | c.605A>T (p.Asp202Val) n.754A>T c.131A>T (p.Asp44Val) c.653A>T (p.Asp218Val) c.587-22785A>T (n.587-22785A>T) c.539-22785A>T (n.539-22785A>T) c.59A>T (p.Asp20Val) | |
| 9 | g.893979C>A | CA372776504 | DMRT1 | c.606C>A (p.Asp202Glu) n.755C>A c.132C>A (p.Asp44Glu) c.654C>A (p.Asp218Glu) c.587-22784C>A (n.587-22784C>A) c.539-22784C>A (n.539-22784C>A) c.60C>A (p.Asp20Glu) | |
| 9 | g.893979C>G | CA372776506 | DMRT1 | c.606C>G (p.Asp202Glu) n.755C>G c.132C>G (p.Asp44Glu) c.654C>G (p.Asp218Glu) c.587-22784C>G (n.587-22784C>G) c.539-22784C>G (n.539-22784C>G) c.60C>G (p.Asp20Glu) | |
| 9 | g.893979C>T | CA463850308 | DMRT1 | c.606C>T (p.Asp202=) n.755C>T c.132C>T (p.Asp44=) c.654C>T (p.Asp218=) c.587-22784C>T (n.587-22784C>T) c.539-22784C>T (n.539-22784C>T) c.60C>T (p.Asp20=) | gnomAD v4 |
| 9 | g.893980C>A | CA372776509 | DMRT1 | c.607C>A (p.Leu203Met) n.756C>A c.133C>A (p.Leu45Met) c.655C>A (p.Leu219Met) c.587-22783C>A (n.587-22783C>A) c.539-22783C>A (n.539-22783C>A) c.61C>A (p.Leu21Met) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.893980C= | CA1827190641 | DMRT1 | c.607C= (p.Leu203=) n.756C= c.133C= (p.Leu45=) c.655C= (p.Leu219=) c.587-22783C= (n.587-22783C=) c.539-22783C= (n.539-22783C=) c.61C= (p.Leu21=) | |
| 9 | g.893980C>G | CA372776507 | DMRT1 | c.607C>G (p.Leu203Val) n.756C>G c.133C>G (p.Leu45Val) c.655C>G (p.Leu219Val) c.587-22783C>G (n.587-22783C>G) c.539-22783C>G (n.539-22783C>G) c.61C>G (p.Leu21Val) | gnomAD v4 |
| 9 | g.893980C>T | CA463850309 | DMRT1 | c.607C>T (p.Leu203=) n.756C>T c.133C>T (p.Leu45=) c.655C>T (p.Leu219=) c.587-22783C>T (n.587-22783C>T) c.539-22783C>T (n.539-22783C>T) c.61C>T (p.Leu21=) | gnomAD v4 |
| 9 | g.893981T>A | CA372776510 | DMRT1 | c.608T>A (p.Leu203Gln) n.757T>A c.134T>A (p.Leu45Gln) c.656T>A (p.Leu219Gln) c.587-22782T>A (n.587-22782T>A) c.539-22782T>A (n.539-22782T>A) c.62T>A (p.Leu21Gln) | |
| 9 | g.893981T>C | CA372776512 | DMRT1 | c.608T>C (p.Leu203Pro) n.757T>C c.134T>C (p.Leu45Pro) c.656T>C (p.Leu219Pro) c.587-22782T>C (n.587-22782T>C) c.539-22782T>C (n.539-22782T>C) c.62T>C (p.Leu21Pro) | gnomAD v4 |
| 9 | g.893981T>G | CA372776514 | DMRT1 | c.608T>G (p.Leu203Arg) n.757T>G c.134T>G (p.Leu45Arg) c.656T>G (p.Leu219Arg) c.587-22782T>G (n.587-22782T>G) c.539-22782T>G (n.539-22782T>G) c.62T>G (p.Leu21Arg) | |
| 9 | g.893982G>A | CA187864904 | DMRT1 | c.609G>A (p.Leu203=) n.758G>A c.135G>A (p.Leu45=) c.657G>A (p.Leu219=) c.587-22781G>A (n.587-22781G>A) c.539-22781G>A (n.539-22781G>A) c.63G>A (p.Leu21=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.893982G>C | CA463850310 | DMRT1 | c.609G>C (p.Leu203=) n.758G>C c.135G>C (p.Leu45=) c.657G>C (p.Leu219=) c.587-22781G>C (n.587-22781G>C) c.539-22781G>C (n.539-22781G>C) c.63G>C (p.Leu21=) | |
| 9 | g.893982G= | CA1827190644 | DMRT1 | c.609G= (p.Leu203=) n.758G= c.135G= (p.Leu45=) c.657G= (p.Leu219=) c.587-22781G= (n.587-22781G=) c.539-22781G= (n.539-22781G=) c.63G= (p.Leu21=) | |
| 9 | g.893982G>T | CA463850311 | DMRT1 | c.609G>T (p.Leu203=) n.758G>T c.135G>T (p.Leu45=) c.657G>T (p.Leu219=) c.587-22781G>T (n.587-22781G>T) c.539-22781G>T (n.539-22781G>T) c.63G>T (p.Leu21=) | |
| 9 | g.893983G>A | CA372776515 | DMRT1 | c.610G>A (p.Val204Ile) n.759G>A c.136G>A (p.Val46Ile) c.658G>A (p.Val220Ile) c.587-22780G>A (n.587-22780G>A) c.539-22780G>A (n.539-22780G>A) c.64G>A (p.Val22Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.893983G>C | CA4961612 | DMRT1 | c.610G>C (p.Val204Leu) n.759G>C c.136G>C (p.Val46Leu) c.658G>C (p.Val220Leu) c.587-22780G>C (n.587-22780G>C) c.539-22780G>C (n.539-22780G>C) c.64G>C (p.Val22Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.893983G= | CA1827190648 | DMRT1 | c.610G= (p.Val204=) n.759G= c.136G= (p.Val46=) c.658G= (p.Val220=) c.587-22780G= (n.587-22780G=) c.539-22780G= (n.539-22780G=) c.64G= (p.Val22=) | |
| 9 | g.893983G>T | CA372776519 | DMRT1 | c.610G>T (p.Val204Phe) n.759G>T c.136G>T (p.Val46Phe) c.658G>T (p.Val220Phe) c.587-22780G>T (n.587-22780G>T) c.539-22780G>T (n.539-22780G>T) c.64G>T (p.Val22Phe) | COSMIC |
| 9 | g.893984T>A | CA372776520 | DMRT1 | c.611T>A (p.Val204Asp) n.760T>A c.137T>A (p.Val46Asp) c.659T>A (p.Val220Asp) c.587-22779T>A (n.587-22779T>A) c.539-22779T>A (n.539-22779T>A) c.65T>A (p.Val22Asp) | |
| 9 | g.893984T>C | CA372776521 | DMRT1 | c.611T>C (p.Val204Ala) n.760T>C c.137T>C (p.Val46Ala) c.659T>C (p.Val220Ala) c.587-22779T>C (n.587-22779T>C) c.539-22779T>C (n.539-22779T>C) c.65T>C (p.Val22Ala) | gnomAD v4 |
| 9 | g.893984T>G | CA372776523 | DMRT1 | c.611T>G (p.Val204Gly) n.760T>G c.137T>G (p.Val46Gly) c.659T>G (p.Val220Gly) c.587-22779T>G (n.587-22779T>G) c.539-22779T>G (n.539-22779T>G) c.65T>G (p.Val22Gly) | |
| 9 | g.893985T>A | CA463850312 | DMRT1 | c.612T>A (p.Val204=) n.761T>A c.138T>A (p.Val46=) c.660T>A (p.Val220=) c.587-22778T>A (n.587-22778T>A) c.539-22778T>A (n.539-22778T>A) c.66T>A (p.Val22=) | |
| 9 | g.893985T>C | CA463850313 | DMRT1 | c.612T>C (p.Val204=) n.761T>C c.138T>C (p.Val46=) c.660T>C (p.Val220=) c.587-22778T>C (n.587-22778T>C) c.539-22778T>C (n.539-22778T>C) c.66T>C (p.Val22=) | |
| 9 | g.893985T>G | CA463850314 | DMRT1 | c.612T>G (p.Val204=) n.761T>G c.138T>G (p.Val46=) c.660T>G (p.Val220=) c.587-22778T>G (n.587-22778T>G) c.539-22778T>G (n.539-22778T>G) c.66T>G (p.Val22=) | |
| 9 | g.893986T>A | CA372776525 | DMRT1 | c.613T>A (p.Ser205Thr) n.762T>A c.139T>A (p.Ser47Thr) c.661T>A (p.Ser221Thr) c.587-22777T>A (n.587-22777T>A) c.539-22777T>A (n.539-22777T>A) c.67T>A (p.Ser23Thr) | |
| 9 | g.893986T>C | CA372776527 | DMRT1 | c.613T>C (p.Ser205Pro) n.762T>C c.139T>C (p.Ser47Pro) c.661T>C (p.Ser221Pro) c.587-22777T>C (n.587-22777T>C) c.539-22777T>C (n.539-22777T>C) c.67T>C (p.Ser23Pro) | |
| 9 | g.893986T>G | CA372776528 | DMRT1 | c.613T>G (p.Ser205Ala) n.762T>G c.139T>G (p.Ser47Ala) c.661T>G (p.Ser221Ala) c.587-22777T>G (n.587-22777T>G) c.539-22777T>G (n.539-22777T>G) c.67T>G (p.Ser23Ala) | |
| 9 | g.893987C>A | CA372776531 | DMRT1 | c.614C>A (p.Ser205Ter) n.763C>A c.140C>A (p.Ser47Ter) c.662C>A (p.Ser221Ter) c.587-22776C>A (n.587-22776C>A) c.539-22776C>A (n.539-22776C>A) c.68C>A (p.Ser23Ter) | |
| 9 | g.893987C>G | CA372776533 | DMRT1 | c.614C>G (p.Ser205Ter) n.763C>G c.140C>G (p.Ser47Ter) c.662C>G (p.Ser221Ter) c.587-22776C>G (n.587-22776C>G) c.539-22776C>G (n.539-22776C>G) c.68C>G (p.Ser23Ter) | |
| 9 | g.893987C>T | CA372776532 | DMRT1 | c.614C>T (p.Ser205Leu) n.763C>T c.140C>T (p.Ser47Leu) c.662C>T (p.Ser221Leu) c.587-22776C>T (n.587-22776C>T) c.539-22776C>T (n.539-22776C>T) c.68C>T (p.Ser23Leu) | gnomAD v4 |
| 9 | g.893988A= | CA1827190650 | DMRT1 | c.615A= (p.Ser205=) n.764A= c.141A= (p.Ser47=) c.663A= (p.Ser221=) c.587-22775A= (n.587-22775A=) c.539-22775A= (n.539-22775A=) c.69A= (p.Ser23=) | |
| 9 | g.893988A>C | CA463850315 | DMRT1 | c.615A>C (p.Ser205=) n.764A>C c.141A>C (p.Ser47=) c.663A>C (p.Ser221=) c.587-22775A>C (n.587-22775A>C) c.539-22775A>C (n.539-22775A>C) c.69A>C (p.Ser23=) | |
| 9 | g.893988A>G | CA463850316 | DMRT1 | c.615A>G (p.Ser205=) n.764A>G c.141A>G (p.Ser47=) c.663A>G (p.Ser221=) c.587-22775A>G (n.587-22775A>G) c.539-22775A>G (n.539-22775A>G) c.69A>G (p.Ser23=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.893988A>T | CA463850317 | DMRT1 | c.615A>T (p.Ser205=) n.764A>T c.141A>T (p.Ser47=) c.663A>T (p.Ser221=) c.587-22775A>T (n.587-22775A>T) c.539-22775A>T (n.539-22775A>T) c.69A>T (p.Ser23=) | |
| 9 | g.893989G>A | CA372776535 | DMRT1 | c.616G>A (p.Asp206Asn) n.765G>A c.142G>A (p.Asp48Asn) c.664G>A (p.Asp222Asn) c.587-22774G>A (n.587-22774G>A) c.539-22774G>A (n.539-22774G>A) c.70G>A (p.Asp24Asn) | |
| 9 | g.893989G>C | CA372776537 | DMRT1 | c.616G>C (p.Asp206His) n.765G>C c.142G>C (p.Asp48His) c.664G>C (p.Asp222His) c.587-22774G>C (n.587-22774G>C) c.539-22774G>C (n.539-22774G>C) c.70G>C (p.Asp24His) | dbSNP |
| 9 | g.893989G= | CA1827190651 | DMRT1 | c.616G= (p.Asp206=) n.765G= c.142G= (p.Asp48=) c.664G= (p.Asp222=) c.587-22774G= (n.587-22774G=) c.539-22774G= (n.539-22774G=) c.70G= (p.Asp24=) | |
| 9 | g.893989G>T | CA372776539 | DMRT1 | c.616G>T (p.Asp206Tyr) n.765G>T c.142G>T (p.Asp48Tyr) c.664G>T (p.Asp222Tyr) c.587-22774G>T (n.587-22774G>T) c.539-22774G>T (n.539-22774G>T) c.70G>T (p.Asp24Tyr) | |
| 9 | g.893990A= | CA1827190653 | DMRT1 | c.617A= (p.Asp206=) n.766A= c.143A= (p.Asp48=) c.665A= (p.Asp222=) c.587-22773A= (n.587-22773A=) c.539-22773A= (n.539-22773A=) c.71A= (p.Asp24=) | |
| 9 | g.893990A>C | CA372776540 | DMRT1 | c.617A>C (p.Asp206Ala) n.766A>C c.143A>C (p.Asp48Ala) c.665A>C (p.Asp222Ala) c.587-22773A>C (n.587-22773A>C) c.539-22773A>C (n.539-22773A>C) c.71A>C (p.Asp24Ala) | dbSNP |
| 9 | g.893990A>G | CA372776543 | DMRT1 | c.617A>G (p.Asp206Gly) n.766A>G c.143A>G (p.Asp48Gly) c.665A>G (p.Asp222Gly) c.587-22773A>G (n.587-22773A>G) c.539-22773A>G (n.539-22773A>G) c.71A>G (p.Asp24Gly) | |
| 9 | g.893990A>T | CA372776545 | DMRT1 | c.617A>T (p.Asp206Val) n.766A>T c.143A>T (p.Asp48Val) c.665A>T (p.Asp222Val) c.587-22773A>T (n.587-22773A>T) c.539-22773A>T (n.539-22773A>T) c.71A>T (p.Asp24Val) | |
| 9 | g.893991C>A | CA372776546 | DMRT1 | c.618C>A (p.Asp206Glu) n.767C>A c.144C>A (p.Asp48Glu) c.666C>A (p.Asp222Glu) c.587-22772C>A (n.587-22772C>A) c.539-22772C>A (n.539-22772C>A) c.72C>A (p.Asp24Glu) | |
| 9 | g.893991C= | CA1827190655 | DMRT1 | c.618C= (p.Asp206=) n.767C= c.144C= (p.Asp48=) c.666C= (p.Asp222=) c.587-22772C= (n.587-22772C=) c.539-22772C= (n.539-22772C=) c.72C= (p.Asp24=) | |
| 9 | g.893991C>G | CA372776547 | DMRT1 | c.618C>G (p.Asp206Glu) n.767C>G c.144C>G (p.Asp48Glu) c.666C>G (p.Asp222Glu) c.587-22772C>G (n.587-22772C>G) c.539-22772C>G (n.539-22772C>G) c.72C>G (p.Asp24Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.893991C>T | CA463850318 | DMRT1 | c.618C>T (p.Asp206=) n.767C>T c.144C>T (p.Asp48=) c.666C>T (p.Asp222=) c.587-22772C>T (n.587-22772C>T) c.539-22772C>T (n.539-22772C>T) c.72C>T (p.Asp24=) | |
| 9 | g.893992_893993del | CA2579288531 | DMRT1 | c.619_620del (p.Ser207HisfsTer?) n.768_769del c.145_146del (p.Ser49HisfsTer?) c.667_668del (p.Ser223HisfsTer?) c.587-22771_587-22770del (n.587-22771_587-22770del) c.539-22771_539-22770del (n.539-22771_539-22770del) c.73_74del (p.Ser25HisfsTer?) | |
| 9 | g.893992T>A | CA372776548 | DMRT1 | c.619T>A (p.Ser207Thr) n.768T>A c.145T>A (p.Ser49Thr) c.667T>A (p.Ser223Thr) c.587-22771T>A (n.587-22771T>A) c.539-22771T>A (n.539-22771T>A) c.73T>A (p.Ser25Thr) | |
| 9 | g.893992T>C | CA372776549 | DMRT1 | c.619T>C (p.Ser207Pro) n.768T>C c.145T>C (p.Ser49Pro) c.667T>C (p.Ser223Pro) c.587-22771T>C (n.587-22771T>C) c.539-22771T>C (n.539-22771T>C) c.73T>C (p.Ser25Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.893992T>G | CA372776550 | DMRT1 | c.619T>G (p.Ser207Ala) n.768T>G c.145T>G (p.Ser49Ala) c.667T>G (p.Ser223Ala) c.587-22771T>G (n.587-22771T>G) c.539-22771T>G (n.539-22771T>G) c.73T>G (p.Ser25Ala) | |
| 9 | g.893992T= | CA1827190659 | DMRT1 | c.619T= (p.Ser207=) n.768T= c.145T= (p.Ser49=) c.667T= (p.Ser223=) c.587-22771T= (n.587-22771T=) c.539-22771T= (n.539-22771T=) c.73T= (p.Ser25=) | |
| 9 | g.893993C>A | CA372776554 | DMRT1 | c.620C>A (p.Ser207Tyr) n.769C>A c.146C>A (p.Ser49Tyr) c.668C>A (p.Ser223Tyr) c.587-22770C>A (n.587-22770C>A) c.539-22770C>A (n.539-22770C>A) c.74C>A (p.Ser25Tyr) | COSMIC |
| 9 | g.893993C>G | CA372776553 | DMRT1 | c.620C>G (p.Ser207Cys) n.769C>G c.146C>G (p.Ser49Cys) c.668C>G (p.Ser223Cys) c.587-22770C>G (n.587-22770C>G) c.539-22770C>G (n.539-22770C>G) c.74C>G (p.Ser25Cys) | |
| 9 | g.893993C>T | CA372776552 | DMRT1 | c.620C>T (p.Ser207Phe) n.769C>T c.146C>T (p.Ser49Phe) c.668C>T (p.Ser223Phe) c.587-22770C>T (n.587-22770C>T) c.539-22770C>T (n.539-22770C>T) c.74C>T (p.Ser25Phe) | |
| 9 | g.893994C>A | CA463850319 | DMRT1 | c.621C>A (p.Ser207=) n.770C>A c.147C>A (p.Ser49=) c.669C>A (p.Ser223=) c.587-22769C>A (n.587-22769C>A) c.539-22769C>A (n.539-22769C>A) c.75C>A (p.Ser25=) | gnomAD v4 |
| 9 | g.893994C= | CA1827190663 | DMRT1 | c.621C= (p.Ser207=) n.770C= c.147C= (p.Ser49=) c.669C= (p.Ser223=) c.587-22769C= (n.587-22769C=) c.539-22769C= (n.539-22769C=) c.75C= (p.Ser25=) | |
| 9 | g.893994C>G | CA463850320 | DMRT1 | c.621C>G (p.Ser207=) n.770C>G c.147C>G (p.Ser49=) c.669C>G (p.Ser223=) c.587-22769C>G (n.587-22769C>G) c.539-22769C>G (n.539-22769C>G) c.75C>G (p.Ser25=) | |
| 9 | g.893994C>T | CA463850321 | DMRT1 | c.621C>T (p.Ser207=) n.770C>T c.147C>T (p.Ser49=) c.669C>T (p.Ser223=) c.587-22769C>T (n.587-22769C>T) c.539-22769C>T (n.539-22769C>T) c.75C>T (p.Ser25=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.893995A= | CA1827190665 | DMRT1 | c.622A= (p.Thr208=) n.771A= c.148A= (p.Thr50=) c.670A= (p.Thr224=) c.587-22768A= (n.587-22768A=) c.539-22768A= (n.539-22768A=) c.76A= (p.Thr26=) | |
| 9 | g.893995A>C | CA372776556 | DMRT1 | c.622A>C (p.Thr208Pro) n.771A>C c.148A>C (p.Thr50Pro) c.670A>C (p.Thr224Pro) c.587-22768A>C (n.587-22768A>C) c.539-22768A>C (n.539-22768A>C) c.76A>C (p.Thr26Pro) | dbSNP |
| 9 | g.893995A>G | CA372776557 | DMRT1 | c.622A>G (p.Thr208Ala) n.771A>G c.148A>G (p.Thr50Ala) c.670A>G (p.Thr224Ala) c.587-22768A>G (n.587-22768A>G) c.539-22768A>G (n.539-22768A>G) c.76A>G (p.Thr26Ala) | dbSNP gnomAD v4 |
| 9 | g.893995A>T | CA372776559 | DMRT1 | c.622A>T (p.Thr208Ser) n.771A>T c.148A>T (p.Thr50Ser) c.670A>T (p.Thr224Ser) c.587-22768A>T (n.587-22768A>T) c.539-22768A>T (n.539-22768A>T) c.76A>T (p.Thr26Ser) | |
| 9 | g.893996C>A | CA372776561 | DMRT1 | c.623C>A (p.Thr208Asn) n.772C>A c.149C>A (p.Thr50Asn) c.671C>A (p.Thr224Asn) c.587-22767C>A (n.587-22767C>A) c.539-22767C>A (n.539-22767C>A) c.77C>A (p.Thr26Asn) | |
| 9 | g.893996C>G | CA372776562 | DMRT1 | c.623C>G (p.Thr208Ser) n.772C>G c.149C>G (p.Thr50Ser) c.671C>G (p.Thr224Ser) c.587-22767C>G (n.587-22767C>G) c.539-22767C>G (n.539-22767C>G) c.77C>G (p.Thr26Ser) | |
| 9 | g.893996C>T | CA372776563 | DMRT1 | c.623C>T (p.Thr208Ile) n.772C>T c.149C>T (p.Thr50Ile) c.671C>T (p.Thr224Ile) c.587-22767C>T (n.587-22767C>T) c.539-22767C>T (n.539-22767C>T) c.77C>T (p.Thr26Ile) | gnomAD v4 |
| 9 | g.893997C>A | CA463850322 | DMRT1 | c.624C>A (p.Thr208=) n.773C>A c.150C>A (p.Thr50=) c.672C>A (p.Thr224=) c.587-22766C>A (n.587-22766C>A) c.539-22766C>A (n.539-22766C>A) c.78C>A (p.Thr26=) | |
| 9 | g.893997C>G | CA463850323 | DMRT1 | c.624C>G (p.Thr208=) n.773C>G c.150C>G (p.Thr50=) c.672C>G (p.Thr224=) c.587-22766C>G (n.587-22766C>G) c.539-22766C>G (n.539-22766C>G) c.78C>G (p.Thr26=) | |
| 9 | g.893997C>T | CA463850324 | DMRT1 | c.624C>T (p.Thr208=) n.773C>T c.150C>T (p.Thr50=) c.672C>T (p.Thr224=) c.587-22766C>T (n.587-22766C>T) c.539-22766C>T (n.539-22766C>T) c.78C>T (p.Thr26=) | |
| 9 | g.893998T>A | CA372776564 | DMRT1 | c.625T>A (p.Tyr209Asn) n.774T>A c.151T>A (p.Tyr51Asn) c.673T>A (p.Tyr225Asn) c.587-22765T>A (n.587-22765T>A) c.539-22765T>A (n.539-22765T>A) c.79T>A (p.Tyr27Asn) | gnomAD v4 |
| 9 | g.893998T>C | CA372776566 | DMRT1 | c.625T>C (p.Tyr209His) n.774T>C c.151T>C (p.Tyr51His) c.673T>C (p.Tyr225His) c.587-22765T>C (n.587-22765T>C) c.539-22765T>C (n.539-22765T>C) c.79T>C (p.Tyr27His) | |
| 9 | g.893998T>G | CA372776567 | DMRT1 | c.625T>G (p.Tyr209Asp) n.774T>G c.151T>G (p.Tyr51Asp) c.673T>G (p.Tyr225Asp) c.587-22765T>G (n.587-22765T>G) c.539-22765T>G (n.539-22765T>G) c.79T>G (p.Tyr27Asp) | |
| 9 | g.893999A>C | CA372776568 | DMRT1 | c.626A>C (p.Tyr209Ser) n.775A>C c.152A>C (p.Tyr51Ser) c.674A>C (p.Tyr225Ser) c.587-22764A>C (n.587-22764A>C) c.539-22764A>C (n.539-22764A>C) c.80A>C (p.Tyr27Ser) | |
| 9 | g.893999A>G | CA372776569 | DMRT1 | c.626A>G (p.Tyr209Cys) n.775A>G c.152A>G (p.Tyr51Cys) c.674A>G (p.Tyr225Cys) c.587-22764A>G (n.587-22764A>G) c.539-22764A>G (n.539-22764A>G) c.80A>G (p.Tyr27Cys) | |
| 9 | g.893999A>T | CA372776570 | DMRT1 | c.626A>T (p.Tyr209Phe) n.775A>T c.152A>T (p.Tyr51Phe) c.674A>T (p.Tyr225Phe) c.587-22764A>T (n.587-22764A>T) c.539-22764A>T (n.539-22764A>T) c.80A>T (p.Tyr27Phe) | |
| 9 | g.894000C>A | CA372776573 | DMRT1 | c.627C>A (p.Tyr209Ter) n.776C>A c.153C>A (p.Tyr51Ter) c.675C>A (p.Tyr225Ter) c.587-22763C>A (n.587-22763C>A) c.539-22763C>A (n.539-22763C>A) c.81C>A (p.Tyr27Ter) | |
| 9 | g.894000C>G | CA372776572 | DMRT1 | c.627C>G (p.Tyr209Ter) n.776C>G c.153C>G (p.Tyr51Ter) c.675C>G (p.Tyr225Ter) c.587-22763C>G (n.587-22763C>G) c.539-22763C>G (n.539-22763C>G) c.81C>G (p.Tyr27Ter) | |
| 9 | g.894000C>T | CA463850325 | DMRT1 | c.627C>T (p.Tyr209=) n.776C>T c.153C>T (p.Tyr51=) c.675C>T (p.Tyr225=) c.587-22763C>T (n.587-22763C>T) c.539-22763C>T (n.539-22763C>T) c.81C>T (p.Tyr27=) | |
| 9 | g.894001T>A | CA372776575 | DMRT1 | c.628T>A (p.Tyr210Asn) n.777T>A c.154T>A (p.Tyr52Asn) c.676T>A (p.Tyr226Asn) c.587-22762T>A (n.587-22762T>A) c.539-22762T>A (n.539-22762T>A) c.82T>A (p.Tyr28Asn) | |
| 9 | g.894001T>C | CA372776577 | DMRT1 | c.628T>C (p.Tyr210His) n.777T>C c.154T>C (p.Tyr52His) c.676T>C (p.Tyr226His) c.587-22762T>C (n.587-22762T>C) c.539-22762T>C (n.539-22762T>C) c.82T>C (p.Tyr28His) | |
| 9 | g.894001T>G | CA372776576 | DMRT1 | c.628T>G (p.Tyr210Asp) n.777T>G c.154T>G (p.Tyr52Asp) c.676T>G (p.Tyr226Asp) c.587-22762T>G (n.587-22762T>G) c.539-22762T>G (n.539-22762T>G) c.82T>G (p.Tyr28Asp) | |
| 9 | g.894002A= | CA1827190668 | DMRT1 | c.629A= (p.Tyr210=) n.778A= c.155A= (p.Tyr52=) c.677A= (p.Tyr226=) c.587-22761A= (n.587-22761A=) c.539-22761A= (n.539-22761A=) c.83A= (p.Tyr28=) | |
| 9 | g.894002A>C | CA372776578 | DMRT1 | c.629A>C (p.Tyr210Ser) n.778A>C c.155A>C (p.Tyr52Ser) c.677A>C (p.Tyr226Ser) c.587-22761A>C (n.587-22761A>C) c.539-22761A>C (n.539-22761A>C) c.83A>C (p.Tyr28Ser) | |
| 9 | g.894002A>G | CA4961613 | DMRT1 | c.629A>G (p.Tyr210Cys) n.778A>G c.155A>G (p.Tyr52Cys) c.677A>G (p.Tyr226Cys) c.587-22761A>G (n.587-22761A>G) c.539-22761A>G (n.539-22761A>G) c.83A>G (p.Tyr28Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.894002A>T | CA372776579 | DMRT1 | c.629A>T (p.Tyr210Phe) n.778A>T c.155A>T (p.Tyr52Phe) c.677A>T (p.Tyr226Phe) c.587-22761A>T (n.587-22761A>T) c.539-22761A>T (n.539-22761A>T) c.83A>T (p.Tyr28Phe) | |
| 9 | g.894003C>A | CA372776581 | DMRT1 | c.630C>A (p.Tyr210Ter) n.779C>A c.156C>A (p.Tyr52Ter) c.678C>A (p.Tyr226Ter) c.587-22760C>A (n.587-22760C>A) c.539-22760C>A (n.539-22760C>A) c.84C>A (p.Tyr28Ter) | |
| 9 | g.894003C>G | CA372776582 | DMRT1 | c.630C>G (p.Tyr210Ter) n.779C>G c.156C>G (p.Tyr52Ter) c.678C>G (p.Tyr226Ter) c.587-22760C>G (n.587-22760C>G) c.539-22760C>G (n.539-22760C>G) c.84C>G (p.Tyr28Ter) | |
| 9 | g.894003C>T | CA463850326 | DMRT1 | c.630C>T (p.Tyr210=) n.779C>T c.156C>T (p.Tyr52=) c.678C>T (p.Tyr226=) c.587-22760C>T (n.587-22760C>T) c.539-22760C>T (n.539-22760C>T) c.84C>T (p.Tyr28=) | gnomAD v4 |
| 9 | g.894004A= | CA1827190671 | DMRT1 | c.631A= (p.Ser211=) n.780A= c.157A= (p.Ser53=) c.679A= (p.Ser227=) c.587-22759A= (n.587-22759A=) c.539-22759A= (n.539-22759A=) c.85A= (p.Ser29=) | |
| 9 | g.894004A>C | CA372776583 | DMRT1 | c.631A>C (p.Ser211Arg) n.780A>C c.157A>C (p.Ser53Arg) c.679A>C (p.Ser227Arg) c.587-22759A>C (n.587-22759A>C) c.539-22759A>C (n.539-22759A>C) c.85A>C (p.Ser29Arg) | |
| 9 | g.894004A>G | CA372776584 | DMRT1 | c.631A>G (p.Ser211Gly) n.780A>G c.157A>G (p.Ser53Gly) c.679A>G (p.Ser227Gly) c.587-22759A>G (n.587-22759A>G) c.539-22759A>G (n.539-22759A>G) c.85A>G (p.Ser29Gly) | dbSNP |
| 9 | g.894004A>T | CA372776585 | DMRT1 | c.631A>T (p.Ser211Cys) n.780A>T c.157A>T (p.Ser53Cys) c.679A>T (p.Ser227Cys) c.587-22759A>T (n.587-22759A>T) c.539-22759A>T (n.539-22759A>T) c.85A>T (p.Ser29Cys) | COSMIC |
| 9 | g.894005G>A | CA372776587 | DMRT1 | c.632G>A (p.Ser211Asn) n.781G>A c.158G>A (p.Ser53Asn) c.680G>A (p.Ser227Asn) c.587-22758G>A (n.587-22758G>A) c.539-22758G>A (n.539-22758G>A) c.86G>A (p.Ser29Asn) | |
| 9 | g.894005G>C | CA372776589 | DMRT1 | c.632G>C (p.Ser211Thr) n.781G>C c.158G>C (p.Ser53Thr) c.680G>C (p.Ser227Thr) c.587-22758G>C (n.587-22758G>C) c.539-22758G>C (n.539-22758G>C) c.86G>C (p.Ser29Thr) | |
| 9 | g.894005G>T | CA372776590 | DMRT1 | c.632G>T (p.Ser211Ile) n.781G>T c.158G>T (p.Ser53Ile) c.680G>T (p.Ser227Ile) c.587-22758G>T (n.587-22758G>T) c.539-22758G>T (n.539-22758G>T) c.86G>T (p.Ser29Ile) | |
| 9 | g.894006C>A | CA372776592 | DMRT1 | c.633C>A (p.Ser211Arg) n.782C>A c.159C>A (p.Ser53Arg) c.681C>A (p.Ser227Arg) c.587-22757C>A (n.587-22757C>A) c.539-22757C>A (n.539-22757C>A) c.87C>A (p.Ser29Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.894006C= | CA1827190674 | DMRT1 | c.633C= (p.Ser211=) n.782C= c.159C= (p.Ser53=) c.681C= (p.Ser227=) c.587-22757C= (n.587-22757C=) c.539-22757C= (n.539-22757C=) c.87C= (p.Ser29=) | |
| 9 | g.894006C>G | CA372776594 | DMRT1 | c.633C>G (p.Ser211Arg) n.782C>G c.159C>G (p.Ser53Arg) c.681C>G (p.Ser227Arg) c.587-22757C>G (n.587-22757C>G) c.539-22757C>G (n.539-22757C>G) c.87C>G (p.Ser29Arg) | |
| 9 | g.894006C>T | CA463850327 | DMRT1 | c.633C>T (p.Ser211=) n.782C>T c.159C>T (p.Ser53=) c.681C>T (p.Ser227=) c.587-22757C>T (n.587-22757C>T) c.539-22757C>T (n.539-22757C>T) c.87C>T (p.Ser29=) | gnomAD v4 |
| 9 | g.894007A>C | CA372776598 | DMRT1 | c.634A>C (p.Ser212Arg) n.783A>C c.160A>C (p.Ser54Arg) c.682A>C (p.Ser228Arg) c.587-22756A>C (n.587-22756A>C) c.539-22756A>C (n.539-22756A>C) c.88A>C (p.Ser30Arg) | |
| 9 | g.894007A>G | CA372776597 | DMRT1 | c.634A>G (p.Ser212Gly) n.783A>G c.160A>G (p.Ser54Gly) c.682A>G (p.Ser228Gly) c.587-22756A>G (n.587-22756A>G) c.539-22756A>G (n.539-22756A>G) c.88A>G (p.Ser30Gly) | |
| 9 | g.894007A>T | CA372776596 | DMRT1 | c.634A>T (p.Ser212Cys) n.783A>T c.160A>T (p.Ser54Cys) c.682A>T (p.Ser228Cys) c.587-22756A>T (n.587-22756A>T) c.539-22756A>T (n.539-22756A>T) c.88A>T (p.Ser30Cys) | |
| 9 | g.894008G>A | CA372776601 | DMRT1 | c.635G>A (p.Ser212Asn) n.784G>A c.161G>A (p.Ser54Asn) c.683G>A (p.Ser228Asn) c.587-22755G>A (n.587-22755G>A) c.539-22755G>A (n.539-22755G>A) c.89G>A (p.Ser30Asn) | |
| 9 | g.894008G>C | CA372776602 | DMRT1 | c.635G>C (p.Ser212Thr) n.784G>C c.161G>C (p.Ser54Thr) c.683G>C (p.Ser228Thr) c.587-22755G>C (n.587-22755G>C) c.539-22755G>C (n.539-22755G>C) c.89G>C (p.Ser30Thr) | gnomAD v4 |
| 9 | g.894008G>T | CA372776603 | DMRT1 | c.635G>T (p.Ser212Ile) n.784G>T c.161G>T (p.Ser54Ile) c.683G>T (p.Ser228Ile) c.587-22755G>T (n.587-22755G>T) c.539-22755G>T (n.539-22755G>T) c.89G>T (p.Ser30Ile) | |
| 9 | g.894009C>A | CA372776604 | DMRT1 | c.636C>A (p.Ser212Arg) n.785C>A c.162C>A (p.Ser54Arg) c.684C>A (p.Ser228Arg) c.587-22754C>A (n.587-22754C>A) c.539-22754C>A (n.539-22754C>A) c.90C>A (p.Ser30Arg) | |
| 9 | g.894009C>G | CA372776605 | DMRT1 | c.636C>G (p.Ser212Arg) n.785C>G c.162C>G (p.Ser54Arg) c.684C>G (p.Ser228Arg) c.587-22754C>G (n.587-22754C>G) c.539-22754C>G (n.539-22754C>G) c.90C>G (p.Ser30Arg) | |
| 9 | g.894009C>T | CA463850328 | DMRT1 | c.636C>T (p.Ser212=) n.785C>T c.162C>T (p.Ser54=) c.684C>T (p.Ser228=) c.587-22754C>T (n.587-22754C>T) c.539-22754C>T (n.539-22754C>T) c.90C>T (p.Ser30=) | |
| 9 | g.894010T>A | CA372776607 | DMRT1 | c.637T>A (p.Phe213Ile) n.786T>A c.163T>A (p.Phe55Ile) c.685T>A (p.Phe229Ile) c.587-22753T>A (n.587-22753T>A) c.539-22753T>A (n.539-22753T>A) c.91T>A (p.Phe31Ile) | |
| 9 | g.894010T>C | CA372776609 | DMRT1 | c.637T>C (p.Phe213Leu) n.786T>C c.163T>C (p.Phe55Leu) c.685T>C (p.Phe229Leu) c.587-22753T>C (n.587-22753T>C) c.539-22753T>C (n.539-22753T>C) c.91T>C (p.Phe31Leu) | gnomAD v4 |
| 9 | g.894010T>G | CA372776611 | DMRT1 | c.637T>G (p.Phe213Val) n.786T>G c.163T>G (p.Phe55Val) c.685T>G (p.Phe229Val) c.587-22753T>G (n.587-22753T>G) c.539-22753T>G (n.539-22753T>G) c.91T>G (p.Phe31Val) | |
| 9 | g.894011T>A | CA372776615 | DMRT1 | c.638T>A (p.Phe213Tyr) n.787T>A c.164T>A (p.Phe55Tyr) c.686T>A (p.Phe229Tyr) c.587-22752T>A (n.587-22752T>A) c.539-22752T>A (n.539-22752T>A) c.92T>A (p.Phe31Tyr) | |
| 9 | g.894011T>C | CA372776616 | DMRT1 | c.638T>C (p.Phe213Ser) n.787T>C c.164T>C (p.Phe55Ser) c.686T>C (p.Phe229Ser) c.587-22752T>C (n.587-22752T>C) c.539-22752T>C (n.539-22752T>C) c.92T>C (p.Phe31Ser) | |
| 9 | g.894011T>G | CA372776617 | DMRT1 | c.638T>G (p.Phe213Cys) n.787T>G c.164T>G (p.Phe55Cys) c.686T>G (p.Phe229Cys) c.587-22752T>G (n.587-22752T>G) c.539-22752T>G (n.539-22752T>G) c.92T>G (p.Phe31Cys) | |
| 9 | g.894012C>A | CA372776619 | DMRT1 | c.639C>A (p.Phe213Leu) n.788C>A c.165C>A (p.Phe55Leu) c.687C>A (p.Phe229Leu) c.587-22751C>A (n.587-22751C>A) c.539-22751C>A (n.539-22751C>A) c.93C>A (p.Phe31Leu) | |
| 9 | g.894012C= | CA1827190676 | DMRT1 | c.639C= (p.Phe213=) n.788C= c.165C= (p.Phe55=) c.687C= (p.Phe229=) c.587-22751C= (n.587-22751C=) c.539-22751C= (n.539-22751C=) c.93C= (p.Phe31=) | |
| 9 | g.894012C>G | CA4961614 | DMRT1 | c.639C>G (p.Phe213Leu) n.788C>G c.165C>G (p.Phe55Leu) c.687C>G (p.Phe229Leu) c.587-22751C>G (n.587-22751C>G) c.539-22751C>G (n.539-22751C>G) c.93C>G (p.Phe31Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.894012C>T | CA463850329 | DMRT1 | c.639C>T (p.Phe213=) n.788C>T c.165C>T (p.Phe55=) c.687C>T (p.Phe229=) c.587-22751C>T (n.587-22751C>T) c.539-22751C>T (n.539-22751C>T) c.93C>T (p.Phe31=) | |
| 9 | g.894013T>A | CA372776622 | DMRT1 | c.640T>A (p.Tyr214Asn) n.789T>A c.166T>A (p.Tyr56Asn) c.688T>A (p.Tyr230Asn) c.587-22750T>A (n.587-22750T>A) c.539-22750T>A (n.539-22750T>A) c.94T>A (p.Tyr32Asn) | |
| 9 | g.894013T>C | CA372776624 | DMRT1 | c.640T>C (p.Tyr214His) n.789T>C c.166T>C (p.Tyr56His) c.688T>C (p.Tyr230His) c.587-22750T>C (n.587-22750T>C) c.539-22750T>C (n.539-22750T>C) c.94T>C (p.Tyr32His) | |
| 9 | g.894013T>G | CA372776621 | DMRT1 | c.640T>G (p.Tyr214Asp) n.789T>G c.166T>G (p.Tyr56Asp) c.688T>G (p.Tyr230Asp) c.587-22750T>G (n.587-22750T>G) c.539-22750T>G (n.539-22750T>G) c.94T>G (p.Tyr32Asp) | |
| 9 | g.894014A>C | CA372776625 | DMRT1 | c.641A>C (p.Tyr214Ser) n.790A>C c.167A>C (p.Tyr56Ser) c.689A>C (p.Tyr230Ser) c.587-22749A>C (n.587-22749A>C) c.539-22749A>C (n.539-22749A>C) c.95A>C (p.Tyr32Ser) | |
| 9 | g.894014A>G | CA372776627 | DMRT1 | c.641A>G (p.Tyr214Cys) n.790A>G c.167A>G (p.Tyr56Cys) c.689A>G (p.Tyr230Cys) c.587-22749A>G (n.587-22749A>G) c.539-22749A>G (n.539-22749A>G) c.95A>G (p.Tyr32Cys) | gnomAD v4 |
| 9 | g.894014A>T | CA372776628 | DMRT1 | c.641A>T (p.Tyr214Phe) n.790A>T c.167A>T (p.Tyr56Phe) c.689A>T (p.Tyr230Phe) c.587-22749A>T (n.587-22749A>T) c.539-22749A>T (n.539-22749A>T) c.95A>T (p.Tyr32Phe) | |
| 9 | g.894015C>A | CA372776629 | DMRT1 | c.642C>A (p.Tyr214Ter) n.791C>A c.168C>A (p.Tyr56Ter) c.690C>A (p.Tyr230Ter) c.587-22748C>A (n.587-22748C>A) c.539-22748C>A (n.539-22748C>A) c.96C>A (p.Tyr32Ter) | |
| 9 | g.894015C>G | CA372776632 | DMRT1 | c.642C>G (p.Tyr214Ter) n.791C>G c.168C>G (p.Tyr56Ter) c.690C>G (p.Tyr230Ter) c.587-22748C>G (n.587-22748C>G) c.539-22748C>G (n.539-22748C>G) c.96C>G (p.Tyr32Ter) | |
| 9 | g.894015C>T | CA463850330 | DMRT1 | c.642C>T (p.Tyr214=) n.791C>T c.168C>T (p.Tyr56=) c.690C>T (p.Tyr230=) c.587-22748C>T (n.587-22748C>T) c.539-22748C>T (n.539-22748C>T) c.96C>T (p.Tyr32=) | gnomAD v4 |
| 9 | g.894016C>A | CA372776633 | DMRT1 | c.643C>A (p.Gln215Lys) n.792C>A c.169C>A (p.Gln57Lys) c.691C>A (p.Gln231Lys) c.587-22747C>A (n.587-22747C>A) c.539-22747C>A (n.539-22747C>A) c.97C>A (p.Gln33Lys) | |
| 9 | g.894016C>G | CA372776635 | DMRT1 | c.643C>G (p.Gln215Glu) n.792C>G c.169C>G (p.Gln57Glu) c.691C>G (p.Gln231Glu) c.587-22747C>G (n.587-22747C>G) c.539-22747C>G (n.539-22747C>G) c.97C>G (p.Gln33Glu) | |
| 9 | g.894016C>T | CA372776636 | DMRT1 | c.643C>T (p.Gln215Ter) n.792C>T c.169C>T (p.Gln57Ter) c.691C>T (p.Gln231Ter) c.587-22747C>T (n.587-22747C>T) c.539-22747C>T (n.539-22747C>T) c.97C>T (p.Gln33Ter) | |
| 9 | g.894017A>C | CA372776637 | DMRT1 | c.644A>C (p.Gln215Pro) n.793A>C c.170A>C (p.Gln57Pro) c.692A>C (p.Gln231Pro) c.587-22746A>C (n.587-22746A>C) c.539-22746A>C (n.539-22746A>C) c.98A>C (p.Gln33Pro) | |
| 9 | g.894017A>G | CA372776639 | DMRT1 | c.644A>G (p.Gln215Arg) n.793A>G c.170A>G (p.Gln57Arg) c.692A>G (p.Gln231Arg) c.587-22746A>G (n.587-22746A>G) c.539-22746A>G (n.539-22746A>G) c.98A>G (p.Gln33Arg) | |
| 9 | g.894017A>T | CA372776641 | DMRT1 | c.644A>T (p.Gln215Leu) n.793A>T c.170A>T (p.Gln57Leu) c.692A>T (p.Gln231Leu) c.587-22746A>T (n.587-22746A>T) c.539-22746A>T (n.539-22746A>T) c.98A>T (p.Gln33Leu) | |
| 9 | g.894018G>A | CA463850331 | DMRT1 | c.645G>A (p.Gln215=) n.794G>A c.171G>A (p.Gln57=) c.693G>A (p.Gln231=) c.587-22745G>A (n.587-22745G>A) c.539-22745G>A (n.539-22745G>A) c.99G>A (p.Gln33=) | dbSNP |
| 9 | g.894018G>C | CA372776643 | DMRT1 | c.645G>C (p.Gln215His) n.794G>C c.171G>C (p.Gln57His) c.693G>C (p.Gln231His) c.587-22745G>C (n.587-22745G>C) c.539-22745G>C (n.539-22745G>C) c.99G>C (p.Gln33His) | |
| 9 | g.894018G= | CA1827190679 | DMRT1 | c.645G= (p.Gln215=) n.794G= c.171G= (p.Gln57=) c.693G= (p.Gln231=) c.587-22745G= (n.587-22745G=) c.539-22745G= (n.539-22745G=) c.99G= (p.Gln33=) | |
| 9 | g.894018G>T | CA372776644 | DMRT1 | c.645G>T (p.Gln215His) n.794G>T c.171G>T (p.Gln57His) c.693G>T (p.Gln231His) c.587-22745G>T (n.587-22745G>T) c.539-22745G>T (n.539-22745G>T) c.99G>T (p.Gln33His) | gnomAD v4 |
| 9 | g.894019C>A | CA372776646 | DMRT1 | c.646C>A (p.Pro216Thr) n.795C>A c.172C>A (p.Pro58Thr) c.694C>A (p.Pro232Thr) c.587-22744C>A (n.587-22744C>A) c.539-22744C>A (n.539-22744C>A) c.100C>A (p.Pro34Thr) | gnomAD v4 |
| 9 | g.894019C= | CA1827190684 | DMRT1 | c.646C= (p.Pro216=) n.795C= c.172C= (p.Pro58=) c.694C= (p.Pro232=) c.587-22744C= (n.587-22744C=) c.539-22744C= (n.539-22744C=) c.100C= (p.Pro34=) | |
| 9 | g.894019C>G | CA372776651 | DMRT1 | c.646C>G (p.Pro216Ala) n.795C>G c.172C>G (p.Pro58Ala) c.694C>G (p.Pro232Ala) c.587-22744C>G (n.587-22744C>G) c.539-22744C>G (n.539-22744C>G) c.100C>G (p.Pro34Ala) | |
| 9 | g.894019C>T | CA4961615 | DMRT1 | c.646C>T (p.Pro216Ser) n.795C>T c.172C>T (p.Pro58Ser) c.694C>T (p.Pro232Ser) c.587-22744C>T (n.587-22744C>T) c.539-22744C>T (n.539-22744C>T) c.100C>T (p.Pro34Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.894020dup | CA586167797 | DMRT1 | c.647dup (p.Ser217ValfsTer22) n.796dup c.173dup (p.Ser59ValfsTer22) c.695dup (p.Ser233ValfsTer22) c.587-22743dup (n.587-22743dup) c.539-22743dup (n.539-22743dup) c.101dup (p.Ser35ValfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.894020C>A | CA372776653 | DMRT1 | c.647C>A (p.Pro216Gln) n.796C>A c.173C>A (p.Pro58Gln) c.695C>A (p.Pro232Gln) c.587-22743C>A (n.587-22743C>A) c.539-22743C>A (n.539-22743C>A) c.101C>A (p.Pro34Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.894020C= | CA1827190688 | DMRT1 | c.647C= (p.Pro216=) n.796C= c.173C= (p.Pro58=) c.695C= (p.Pro232=) c.587-22743C= (n.587-22743C=) c.539-22743C= (n.539-22743C=) c.101C= (p.Pro34=) | |
| 9 | g.894020C>G | CA372776656 | DMRT1 | c.647C>G (p.Pro216Arg) n.796C>G c.173C>G (p.Pro58Arg) c.695C>G (p.Pro232Arg) c.587-22743C>G (n.587-22743C>G) c.539-22743C>G (n.539-22743C>G) c.101C>G (p.Pro34Arg) | |
| 9 | g.894020C>T | CA372776657 | DMRT1 | c.647C>T (p.Pro216Leu) n.796C>T c.173C>T (p.Pro58Leu) c.695C>T (p.Pro232Leu) c.587-22743C>T (n.587-22743C>T) c.539-22743C>T (n.539-22743C>T) c.101C>T (p.Pro34Leu) | dbSNP gnomAD v4 |
| 9 | g.894021G>A | CA4961616 | DMRT1 | c.648G>A (p.Pro216=) n.797G>A c.174G>A (p.Pro58=) c.696G>A (p.Pro232=) c.587-22742G>A (n.587-22742G>A) c.539-22742G>A (n.539-22742G>A) c.102G>A (p.Pro34=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.894021G>C | CA463850332 | DMRT1 | c.648G>C (p.Pro216=) n.797G>C c.174G>C (p.Pro58=) c.696G>C (p.Pro232=) c.587-22742G>C (n.587-22742G>C) c.539-22742G>C (n.539-22742G>C) c.102G>C (p.Pro34=) | dbSNP gnomAD v4 |
| 9 | g.894021G= | CA1827190694 | DMRT1 | c.648G= (p.Pro216=) n.797G= c.174G= (p.Pro58=) c.696G= (p.Pro232=) c.587-22742G= (n.587-22742G=) c.539-22742G= (n.539-22742G=) c.102G= (p.Pro34=) | |
| 9 | g.894021G>T | CA187864919 | DMRT1 | c.648G>T (p.Pro216=) n.797G>T c.174G>T (p.Pro58=) c.696G>T (p.Pro232=) c.587-22742G>T (n.587-22742G>T) c.539-22742G>T (n.539-22742G>T) c.102G>T (p.Pro34=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.894021_894023delinsGTC | CA1827190692 | DMRT1 | c.648_650delinsGTC (p.Pro216=) n.797_799delinsGTC c.174_176delinsGTC (p.Pro58=) c.696_698delinsGTC (p.Pro232=) c.587-22742_587-22740delinsGTC (n.587-22742_587-22740delinsGTC) c.539-22742_539-22740delinsGTC (n.539-22742_539-22740delinsGTC) c.102_104delinsGTC (p.Pro34=) | |
| 9 | g.894022T>A | CA372776660 | DMRT1 | c.649T>A (p.Ser217Thr) n.798T>A c.175T>A (p.Ser59Thr) c.697T>A (p.Ser233Thr) c.587-22741T>A (n.587-22741T>A) c.539-22741T>A (n.539-22741T>A) c.103T>A (p.Ser35Thr) | |
| 9 | g.894022T>C | CA372776662 | DMRT1 | c.649T>C (p.Ser217Pro) n.798T>C c.175T>C (p.Ser59Pro) c.697T>C (p.Ser233Pro) c.587-22741T>C (n.587-22741T>C) c.539-22741T>C (n.539-22741T>C) c.103T>C (p.Ser35Pro) | |
| 9 | g.894022T>G | CA372776663 | DMRT1 | c.649T>G (p.Ser217Ala) n.798T>G c.175T>G (p.Ser59Ala) c.697T>G (p.Ser233Ala) c.587-22741T>G (n.587-22741T>G) c.539-22741T>G (n.539-22741T>G) c.103T>G (p.Ser35Ala) | |
| 9 | g.894025_894026del | CA1827190696 | DMRT1 | c.652_653del (p.Leu218ValfsTer20) n.801_802del c.178_179del (p.Leu60ValfsTer20) c.700_701del (p.Leu234ValfsTer20) c.587-22738_587-22737del (n.587-22738_587-22737del) c.539-22738_539-22737del (n.539-22738_539-22737del) c.106_107del (p.Leu36ValfsTer20) | dbSNP |
| 9 | g.894023C>A | CA372776664 | DMRT1 | c.650C>A (p.Ser217Tyr) n.799C>A c.176C>A (p.Ser59Tyr) c.698C>A (p.Ser233Tyr) c.587-22740C>A (n.587-22740C>A) c.539-22740C>A (n.539-22740C>A) c.104C>A (p.Ser35Tyr) | |
| 9 | g.894023C>G | CA372776665 | DMRT1 | c.650C>G (p.Ser217Cys) n.799C>G c.176C>G (p.Ser59Cys) c.698C>G (p.Ser233Cys) c.587-22740C>G (n.587-22740C>G) c.539-22740C>G (n.539-22740C>G) c.104C>G (p.Ser35Cys) | |
| 9 | g.894023C>T | CA372776667 | DMRT1 | c.650C>T (p.Ser217Phe) n.799C>T c.176C>T (p.Ser59Phe) c.698C>T (p.Ser233Phe) c.587-22740C>T (n.587-22740C>T) c.539-22740C>T (n.539-22740C>T) c.104C>T (p.Ser35Phe) | |
| 9 | g.894023_894024insCAG | CA2579288532 | DMRT1 | c.650_651insCAG (p.Ser217_Leu218insSer) n.799_800insCAG c.176_177insCAG (p.Ser59_Leu60insSer) c.698_699insCAG (p.Ser233_Leu234insSer) c.587-22740_587-22739insCAG (n.587-22740_587-22739insCAG) c.539-22740_539-22739insCAG (n.539-22740_539-22739insCAG) c.104_105insCAG (p.Ser35_Leu36insSer) | |
| 9 | g.894024T>A | CA463850333 | DMRT1 | c.651T>A (p.Ser217=) n.800T>A c.177T>A (p.Ser59=) c.699T>A (p.Ser233=) c.587-22739T>A (n.587-22739T>A) c.539-22739T>A (n.539-22739T>A) c.105T>A (p.Ser35=) | |
| 9 | g.894024T>C | CA463850334 | DMRT1 | c.651T>C (p.Ser217=) n.800T>C c.177T>C (p.Ser59=) c.699T>C (p.Ser233=) c.587-22739T>C (n.587-22739T>C) c.539-22739T>C (n.539-22739T>C) c.105T>C (p.Ser35=) | |
| 9 | g.894024T>G | CA463850335 | DMRT1 | c.651T>G (p.Ser217=) n.800T>G c.177T>G (p.Ser59=) c.699T>G (p.Ser233=) c.587-22739T>G (n.587-22739T>G) c.539-22739T>G (n.539-22739T>G) c.105T>G (p.Ser35=) | |
| 9 | g.894025C>A | CA372776668 | DMRT1 | c.652C>A (p.Leu218Met) n.801C>A c.178C>A (p.Leu60Met) c.700C>A (p.Leu234Met) c.587-22738C>A (n.587-22738C>A) c.539-22738C>A (n.539-22738C>A) c.106C>A (p.Leu36Met) | |
| 9 | g.894025C= | CA1827190698 | DMRT1 | c.652C= (p.Leu218=) n.801C= c.178C= (p.Leu60=) c.700C= (p.Leu234=) c.587-22738C= (n.587-22738C=) c.539-22738C= (n.539-22738C=) c.106C= (p.Leu36=) | |
| 9 | g.894025C>G | CA372776670 | DMRT1 | c.652C>G (p.Leu218Val) n.801C>G c.178C>G (p.Leu60Val) c.700C>G (p.Leu234Val) c.587-22738C>G (n.587-22738C>G) c.539-22738C>G (n.539-22738C>G) c.106C>G (p.Leu36Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.894025C>T | CA463850336 | DMRT1 | c.652C>T (p.Leu218=) n.801C>T c.178C>T (p.Leu60=) c.700C>T (p.Leu234=) c.587-22738C>T (n.587-22738C>T) c.539-22738C>T (n.539-22738C>T) c.106C>T (p.Leu36=) | gnomAD v4 |
| 9 | g.894026T>A | CA372776671 | DMRT1 | c.653T>A (p.Leu218Gln) n.802T>A c.179T>A (p.Leu60Gln) c.701T>A (p.Leu234Gln) c.587-22737T>A (n.587-22737T>A) c.539-22737T>A (n.539-22737T>A) c.107T>A (p.Leu36Gln) | |
| 9 | g.894026T>C | CA372776673 | DMRT1 | c.653T>C (p.Leu218Pro) n.802T>C c.179T>C (p.Leu60Pro) c.701T>C (p.Leu234Pro) c.587-22737T>C (n.587-22737T>C) c.539-22737T>C (n.539-22737T>C) c.107T>C (p.Leu36Pro) | gnomAD v4 |
| 9 | g.894026T>G | CA372776675 | DMRT1 | c.653T>G (p.Leu218Arg) n.802T>G c.179T>G (p.Leu60Arg) c.701T>G (p.Leu234Arg) c.587-22737T>G (n.587-22737T>G) c.539-22737T>G (n.539-22737T>G) c.107T>G (p.Leu36Arg) | |
| 9 | g.894027G>A | CA4961617 | DMRT1 | c.654G>A (p.Leu218=) n.803G>A c.180G>A (p.Leu60=) c.702G>A (p.Leu234=) c.587-22736G>A (n.587-22736G>A) c.539-22736G>A (n.539-22736G>A) c.108G>A (p.Leu36=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.894027G>C | CA463850337 | DMRT1 | c.654G>C (p.Leu218=) n.803G>C c.180G>C (p.Leu60=) c.702G>C (p.Leu234=) c.587-22736G>C (n.587-22736G>C) c.539-22736G>C (n.539-22736G>C) c.108G>C (p.Leu36=) | dbSNP |
| 9 | g.894027G= | CA1827190700 | DMRT1 | c.654G= (p.Leu218=) n.803G= c.180G= (p.Leu60=) c.702G= (p.Leu234=) c.587-22736G= (n.587-22736G=) c.539-22736G= (n.539-22736G=) c.108G= (p.Leu36=) | |
| 9 | g.894027G>T | CA463850338 | DMRT1 | c.654G>T (p.Leu218=) n.803G>T c.180G>T (p.Leu60=) c.702G>T (p.Leu234=) c.587-22736G>T (n.587-22736G>T) c.539-22736G>T (n.539-22736G>T) c.108G>T (p.Leu36=) | gnomAD v4 |
| 9 | g.894028T>A | CA372776677 | DMRT1 | c.655T>A (p.Phe219Ile) n.804T>A c.181T>A (p.Phe61Ile) c.703T>A (p.Phe235Ile) c.587-22735T>A (n.587-22735T>A) c.539-22735T>A (n.539-22735T>A) c.109T>A (p.Phe37Ile) | |
| 9 | g.894028T>C | CA372776678 | DMRT1 | c.655T>C (p.Phe219Leu) n.804T>C c.181T>C (p.Phe61Leu) c.703T>C (p.Phe235Leu) c.587-22735T>C (n.587-22735T>C) c.539-22735T>C (n.539-22735T>C) c.109T>C (p.Phe37Leu) | |
| 9 | g.894028T>G | CA372776680 | DMRT1 | c.655T>G (p.Phe219Val) n.804T>G c.181T>G (p.Phe61Val) c.703T>G (p.Phe235Val) c.587-22735T>G (n.587-22735T>G) c.539-22735T>G (n.539-22735T>G) c.109T>G (p.Phe37Val) | |
| 9 | g.894029T>A | CA372776686 | DMRT1 | c.656T>A (p.Phe219Tyr) n.805T>A c.182T>A (p.Phe61Tyr) c.704T>A (p.Phe235Tyr) c.587-22734T>A (n.587-22734T>A) c.539-22734T>A (n.539-22734T>A) c.110T>A (p.Phe37Tyr) | |
| 9 | g.894029T>C | CA372776682 | DMRT1 | c.656T>C (p.Phe219Ser) n.805T>C c.182T>C (p.Phe61Ser) c.704T>C (p.Phe235Ser) c.587-22734T>C (n.587-22734T>C) c.539-22734T>C (n.539-22734T>C) c.110T>C (p.Phe37Ser) | |
| 9 | g.894029T>G | CA372776684 | DMRT1 | c.656T>G (p.Phe219Cys) n.805T>G c.182T>G (p.Phe61Cys) c.704T>G (p.Phe235Cys) c.587-22734T>G (n.587-22734T>G) c.539-22734T>G (n.539-22734T>G) c.110T>G (p.Phe37Cys) | |
| 9 | g.894030T>A | CA372776687 | DMRT1 | c.657T>A (p.Phe219Leu) n.806T>A c.183T>A (p.Phe61Leu) c.705T>A (p.Phe235Leu) c.587-22733T>A (n.587-22733T>A) c.539-22733T>A (n.539-22733T>A) c.111T>A (p.Phe37Leu) | |
| 9 | g.894030T>C | CA463850339 | DMRT1 | c.657T>C (p.Phe219=) n.806T>C c.183T>C (p.Phe61=) c.705T>C (p.Phe235=) c.587-22733T>C (n.587-22733T>C) c.539-22733T>C (n.539-22733T>C) c.111T>C (p.Phe37=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.894030T>G | CA372776689 | DMRT1 | c.657T>G (p.Phe219Leu) n.806T>G c.183T>G (p.Phe61Leu) c.705T>G (p.Phe235Leu) c.587-22733T>G (n.587-22733T>G) c.539-22733T>G (n.539-22733T>G) c.111T>G (p.Phe37Leu) | |
| 9 | g.894030T= | CA1827190702 | DMRT1 | c.657T= (p.Phe219=) n.806T= c.183T= (p.Phe61=) c.705T= (p.Phe235=) c.587-22733T= (n.587-22733T=) c.539-22733T= (n.539-22733T=) c.111T= (p.Phe37=) | |
| 9 | g.894031C>A | CA372776691 | DMRT1 | c.658C>A (p.Pro220Thr) n.807C>A c.184C>A (p.Pro62Thr) c.706C>A (p.Pro236Thr) c.587-22732C>A (n.587-22732C>A) c.539-22732C>A (n.539-22732C>A) c.112C>A (p.Pro38Thr) | dbSNP |
| 9 | g.894031C= | CA1827190704 | DMRT1 | c.658C= (p.Pro220=) n.807C= c.184C= (p.Pro62=) c.706C= (p.Pro236=) c.587-22732C= (n.587-22732C=) c.539-22732C= (n.539-22732C=) c.112C= (p.Pro38=) | |
| 9 | g.894031C>G | CA372776693 | DMRT1 | c.658C>G (p.Pro220Ala) n.807C>G c.184C>G (p.Pro62Ala) c.706C>G (p.Pro236Ala) c.587-22732C>G (n.587-22732C>G) c.539-22732C>G (n.539-22732C>G) c.112C>G (p.Pro38Ala) | ClinVar gnomAD v4 |
| 9 | g.894031C>T | CA372776694 | DMRT1 | c.658C>T (p.Pro220Ser) n.807C>T c.184C>T (p.Pro62Ser) c.706C>T (p.Pro236Ser) c.587-22732C>T (n.587-22732C>T) c.539-22732C>T (n.539-22732C>T) c.112C>T (p.Pro38Ser) | gnomAD v4 |
| 9 | g.894032C>A | CA372776695 | DMRT1 | c.659C>A (p.Pro220His) n.808C>A c.185C>A (p.Pro62His) c.707C>A (p.Pro236His) c.587-22731C>A (n.587-22731C>A) c.539-22731C>A (n.539-22731C>A) c.113C>A (p.Pro38His) | |
| 9 | g.894032C>G | CA372776697 | DMRT1 | c.659C>G (p.Pro220Arg) n.808C>G c.185C>G (p.Pro62Arg) c.707C>G (p.Pro236Arg) c.587-22731C>G (n.587-22731C>G) c.539-22731C>G (n.539-22731C>G) c.113C>G (p.Pro38Arg) | |
| 9 | g.894032C>T | CA372776696 | DMRT1 | c.659C>T (p.Pro220Leu) n.808C>T c.185C>T (p.Pro62Leu) c.707C>T (p.Pro236Leu) c.587-22731C>T (n.587-22731C>T) c.539-22731C>T (n.539-22731C>T) c.113C>T (p.Pro38Leu) | |
| 9 | g.894033T>A | CA463850341 | DMRT1 | c.660T>A (p.Pro220=) n.809T>A c.186T>A (p.Pro62=) c.708T>A (p.Pro236=) c.587-22730T>A (n.587-22730T>A) c.539-22730T>A (n.539-22730T>A) c.114T>A (p.Pro38=) | |
| 9 | g.894033T>C | CA463850342 | DMRT1 | c.660T>C (p.Pro220=) n.809T>C c.186T>C (p.Pro62=) c.708T>C (p.Pro236=) c.587-22730T>C (n.587-22730T>C) c.539-22730T>C (n.539-22730T>C) c.114T>C (p.Pro38=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.894033T>G | CA463850340 | DMRT1 | c.660T>G (p.Pro220=) n.809T>G c.186T>G (p.Pro62=) c.708T>G (p.Pro236=) c.587-22730T>G (n.587-22730T>G) c.539-22730T>G (n.539-22730T>G) c.114T>G (p.Pro38=) | |
| 9 | g.894033T= | CA1827190706 | DMRT1 | c.660T= (p.Pro220=) n.809T= c.186T= (p.Pro62=) c.708T= (p.Pro236=) c.587-22730T= (n.587-22730T=) c.539-22730T= (n.539-22730T=) c.114T= (p.Pro38=) | |
| 9 | g.894034T>A | CA372776698 | DMRT1 | c.661T>A (p.Tyr221Asn) n.810T>A c.187T>A (p.Tyr63Asn) c.709T>A (p.Tyr237Asn) c.587-22729T>A (n.587-22729T>A) c.539-22729T>A (n.539-22729T>A) c.115T>A (p.Tyr39Asn) | |
| 9 | g.894034T>C | CA372776699 | DMRT1 | c.661T>C (p.Tyr221His) n.810T>C c.187T>C (p.Tyr63His) c.709T>C (p.Tyr237His) c.587-22729T>C (n.587-22729T>C) c.539-22729T>C (n.539-22729T>C) c.115T>C (p.Tyr39His) | |
| 9 | g.894034T>G | CA372776700 | DMRT1 | c.661T>G (p.Tyr221Asp) n.810T>G c.187T>G (p.Tyr63Asp) c.709T>G (p.Tyr237Asp) c.587-22729T>G (n.587-22729T>G) c.539-22729T>G (n.539-22729T>G) c.115T>G (p.Tyr39Asp) | |
| 9 | g.894035A= | CA1827190710 | DMRT1 | c.662A= (p.Tyr221=) n.811A= c.188A= (p.Tyr63=) c.710A= (p.Tyr237=) c.587-22728A= (n.587-22728A=) c.539-22728A= (n.539-22728A=) c.116A= (p.Tyr39=) | |
| 9 | g.894035A>C | CA372776701 | DMRT1 | c.662A>C (p.Tyr221Ser) n.811A>C c.188A>C (p.Tyr63Ser) c.710A>C (p.Tyr237Ser) c.587-22728A>C (n.587-22728A>C) c.539-22728A>C (n.539-22728A>C) c.116A>C (p.Tyr39Ser) | |
| 9 | g.894035A>G | CA372776703 | DMRT1 | c.662A>G (p.Tyr221Cys) n.811A>G c.188A>G (p.Tyr63Cys) c.710A>G (p.Tyr237Cys) c.587-22728A>G (n.587-22728A>G) c.539-22728A>G (n.539-22728A>G) c.116A>G (p.Tyr39Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.894035A>T | CA372776704 | DMRT1 | c.662A>T (p.Tyr221Phe) n.811A>T c.188A>T (p.Tyr63Phe) c.710A>T (p.Tyr237Phe) c.587-22728A>T (n.587-22728A>T) c.539-22728A>T (n.539-22728A>T) c.116A>T (p.Tyr39Phe) | |
| 9 | g.894036T>A | CA372776706 | DMRT1 | c.663T>A (p.Tyr221Ter) n.812T>A c.189T>A (p.Tyr63Ter) c.711T>A (p.Tyr237Ter) c.587-22727T>A (n.587-22727T>A) c.539-22727T>A (n.539-22727T>A) c.117T>A (p.Tyr39Ter) | |
| 9 | g.894036T>C | CA4961618 | DMRT1 | c.663T>C (p.Tyr221=) n.812T>C c.189T>C (p.Tyr63=) c.711T>C (p.Tyr237=) c.587-22727T>C (n.587-22727T>C) c.539-22727T>C (n.539-22727T>C) c.117T>C (p.Tyr39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.894036T>G | CA372776707 | DMRT1 | c.663T>G (p.Tyr221Ter) n.812T>G c.189T>G (p.Tyr63Ter) c.711T>G (p.Tyr237Ter) c.587-22727T>G (n.587-22727T>G) c.539-22727T>G (n.539-22727T>G) c.117T>G (p.Tyr39Ter) | |
| 9 | g.894036T= | CA1827190713 | DMRT1 | c.663T= (p.Tyr221=) n.812T= c.189T= (p.Tyr63=) c.711T= (p.Tyr237=) c.587-22727T= (n.587-22727T=) c.539-22727T= (n.539-22727T=) c.117T= (p.Tyr39=) | |
| 9 | g.894037T>A | CA372776710 | DMRT1 | c.664T>A (p.Tyr222Asn) n.813T>A c.190T>A (p.Tyr64Asn) c.712T>A (p.Tyr238Asn) c.587-22726T>A (n.587-22726T>A) c.539-22726T>A (n.539-22726T>A) c.118T>A (p.Tyr40Asn) | |
| 9 | g.894037T>C | CA372776711 | DMRT1 | c.664T>C (p.Tyr222His) n.813T>C c.190T>C (p.Tyr64His) c.712T>C (p.Tyr238His) c.587-22726T>C (n.587-22726T>C) c.539-22726T>C (n.539-22726T>C) c.118T>C (p.Tyr40His) | COSMIC |
| 9 | g.894037T>G | CA372776713 | DMRT1 | c.664T>G (p.Tyr222Asp) n.813T>G c.190T>G (p.Tyr64Asp) c.712T>G (p.Tyr238Asp) c.587-22726T>G (n.587-22726T>G) c.539-22726T>G (n.539-22726T>G) c.118T>G (p.Tyr40Asp) | |
| 9 | g.894038A>C | CA372776714 | DMRT1 | c.665A>C (p.Tyr222Ser) n.814A>C c.191A>C (p.Tyr64Ser) c.713A>C (p.Tyr238Ser) c.587-22725A>C (n.587-22725A>C) c.539-22725A>C (n.539-22725A>C) c.119A>C (p.Tyr40Ser) | |
| 9 | g.894038A>G | CA372776716 | DMRT1 | c.665A>G (p.Tyr222Cys) n.814A>G c.191A>G (p.Tyr64Cys) c.713A>G (p.Tyr238Cys) c.587-22725A>G (n.587-22725A>G) c.539-22725A>G (n.539-22725A>G) c.119A>G (p.Tyr40Cys) | |
| 9 | g.894038A>T | CA372776715 | DMRT1 | c.665A>T (p.Tyr222Phe) n.814A>T c.191A>T (p.Tyr64Phe) c.713A>T (p.Tyr238Phe) c.587-22725A>T (n.587-22725A>T) c.539-22725A>T (n.539-22725A>T) c.119A>T (p.Tyr40Phe) | |
| 9 | g.894039C>A | CA372776717 | DMRT1 | c.666C>A (p.Tyr222Ter) n.815C>A c.192C>A (p.Tyr64Ter) c.714C>A (p.Tyr238Ter) c.587-22724C>A (n.587-22724C>A) c.539-22724C>A (n.539-22724C>A) c.120C>A (p.Tyr40Ter) | |
| 9 | g.894039C>G | CA372776719 | DMRT1 | c.666C>G (p.Tyr222Ter) n.815C>G c.192C>G (p.Tyr64Ter) c.714C>G (p.Tyr238Ter) c.587-22724C>G (n.587-22724C>G) c.539-22724C>G (n.539-22724C>G) c.120C>G (p.Tyr40Ter) | |
| 9 | g.894039C>T | CA463850343 | DMRT1 | c.666C>T (p.Tyr222=) n.815C>T c.192C>T (p.Tyr64=) c.714C>T (p.Tyr238=) c.587-22724C>T (n.587-22724C>T) c.539-22724C>T (n.539-22724C>T) c.120C>T (p.Tyr40=) | |
| 9 | g.894040A>C | CA372776720 | DMRT1 | c.667A>C (p.Asn223His) n.816A>C c.193A>C (p.Asn65His) c.715A>C (p.Asn239His) c.587-22723A>C (n.587-22723A>C) c.539-22723A>C (n.539-22723A>C) c.121A>C (p.Asn41His) | |
| 9 | g.894040A>G | CA372776722 | DMRT1 | c.667A>G (p.Asn223Asp) n.816A>G c.193A>G (p.Asn65Asp) c.715A>G (p.Asn239Asp) c.587-22723A>G (n.587-22723A>G) c.539-22723A>G (n.539-22723A>G) c.121A>G (p.Asn41Asp) | |
| 9 | g.894040A>T | CA372776723 | DMRT1 | c.667A>T (p.Asn223Tyr) n.816A>T c.193A>T (p.Asn65Tyr) c.715A>T (p.Asn239Tyr) c.587-22723A>T (n.587-22723A>T) c.539-22723A>T (n.539-22723A>T) c.121A>T (p.Asn41Tyr) | |
| 9 | g.894041A= | CA1827190715 | DMRT1 | c.668A= (p.Asn223=) n.817A= c.194A= (p.Asn65=) c.716A= (p.Asn239=) c.587-22722A= (n.587-22722A=) c.539-22722A= (n.539-22722A=) c.122A= (p.Asn41=) | |
| 9 | g.894041A>C | CA372776725 | DMRT1 | c.668A>C (p.Asn223Thr) n.817A>C c.194A>C (p.Asn65Thr) c.716A>C (p.Asn239Thr) c.587-22722A>C (n.587-22722A>C) c.539-22722A>C (n.539-22722A>C) c.122A>C (p.Asn41Thr) | |
| 9 | g.894041A>G | CA187864928 | DMRT1 | c.668A>G (p.Asn223Ser) n.817A>G c.194A>G (p.Asn65Ser) c.716A>G (p.Asn239Ser) c.587-22722A>G (n.587-22722A>G) c.539-22722A>G (n.539-22722A>G) c.122A>G (p.Asn41Ser) | dbSNP gnomAD v4 |
| 9 | g.894041A>T | CA372776727 | DMRT1 | c.668A>T (p.Asn223Ile) n.817A>T c.194A>T (p.Asn65Ile) c.716A>T (p.Asn239Ile) c.587-22722A>T (n.587-22722A>T) c.539-22722A>T (n.539-22722A>T) c.122A>T (p.Asn41Ile) | |
| 9 | g.894042C>A | CA372776729 | DMRT1 | c.669C>A (p.Asn223Lys) n.818C>A c.195C>A (p.Asn65Lys) c.717C>A (p.Asn239Lys) c.587-22721C>A (n.587-22721C>A) c.539-22721C>A (n.539-22721C>A) c.123C>A (p.Asn41Lys) | gnomAD v4 |
| 9 | g.894042C>G | CA372776730 | DMRT1 | c.669C>G (p.Asn223Lys) n.818C>G c.195C>G (p.Asn65Lys) c.717C>G (p.Asn239Lys) c.587-22721C>G (n.587-22721C>G) c.539-22721C>G (n.539-22721C>G) c.123C>G (p.Asn41Lys) | |
| 9 | g.894042C>T | CA463850344 | DMRT1 | c.669C>T (p.Asn223=) n.818C>T c.195C>T (p.Asn65=) c.717C>T (p.Asn239=) c.587-22721C>T (n.587-22721C>T) c.539-22721C>T (n.539-22721C>T) c.123C>T (p.Asn41=) | |
| 9 | g.894043A>C | CA372776732 | DMRT1 | c.670A>C (p.Asn224His) n.819A>C c.196A>C (p.Asn66His) c.718A>C (p.Asn240His) c.587-22720A>C (n.587-22720A>C) c.539-22720A>C (n.539-22720A>C) c.124A>C (p.Asn42His) | |
| 9 | g.894043A>G | CA372776733 | DMRT1 | c.670A>G (p.Asn224Asp) n.819A>G c.196A>G (p.Asn66Asp) c.718A>G (p.Asn240Asp) c.587-22720A>G (n.587-22720A>G) c.539-22720A>G (n.539-22720A>G) c.124A>G (p.Asn42Asp) | gnomAD v4 |
| 9 | g.894043A>T | CA372776734 | DMRT1 | c.670A>T (p.Asn224Tyr) n.819A>T c.196A>T (p.Asn66Tyr) c.718A>T (p.Asn240Tyr) c.587-22720A>T (n.587-22720A>T) c.539-22720A>T (n.539-22720A>T) c.124A>T (p.Asn42Tyr) | |
| 9 | g.894044A= | CA1827190727 | DMRT1 | c.671A= (p.Asn224=) n.820A= c.197A= (p.Asn66=) c.719A= (p.Asn240=) c.587-22719A= (n.587-22719A=) c.539-22719A= (n.539-22719A=) c.125A= (p.Asn42=) | |
| 9 | g.894044A>C | CA372776735 | DMRT1 | c.671A>C (p.Asn224Thr) n.820A>C c.197A>C (p.Asn66Thr) c.719A>C (p.Asn240Thr) c.587-22719A>C (n.587-22719A>C) c.539-22719A>C (n.539-22719A>C) c.125A>C (p.Asn42Thr) | gnomAD v4 |
| 9 | g.894044A>G | CA4961619 | DMRT1 | c.671A>G (p.Asn224Ser) n.820A>G c.197A>G (p.Asn66Ser) c.719A>G (p.Asn240Ser) c.587-22719A>G (n.587-22719A>G) c.539-22719A>G (n.539-22719A>G) c.125A>G (p.Asn42Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.894044A>T | CA372776736 | DMRT1 | c.671A>T (p.Asn224Ile) n.820A>T c.197A>T (p.Asn66Ile) c.719A>T (p.Asn240Ile) c.587-22719A>T (n.587-22719A>T) c.539-22719A>T (n.539-22719A>T) c.125A>T (p.Asn42Ile) | |
| 9 | g.894045T>A | CA372776737 | DMRT1 | c.672T>A (p.Asn224Lys) n.821T>A c.198T>A (p.Asn66Lys) c.720T>A (p.Asn240Lys) c.587-22718T>A (n.587-22718T>A) c.539-22718T>A (n.539-22718T>A) c.126T>A (p.Asn42Lys) | |
| 9 | g.894045T>C | CA463850345 | DMRT1 | c.672T>C (p.Asn224=) n.821T>C c.198T>C (p.Asn66=) c.720T>C (p.Asn240=) c.587-22718T>C (n.587-22718T>C) c.539-22718T>C (n.539-22718T>C) c.126T>C (p.Asn42=) | gnomAD v4 |
| 9 | g.894045T>G | CA372776738 | DMRT1 | c.672T>G (p.Asn224Lys) n.821T>G c.198T>G (p.Asn66Lys) c.720T>G (p.Asn240Lys) c.587-22718T>G (n.587-22718T>G) c.539-22718T>G (n.539-22718T>G) c.126T>G (p.Asn42Lys) | |
| 9 | g.894046C>A | CA372776739 | DMRT1 | c.673C>A (p.Leu225Ile) n.822C>A c.199C>A (p.Leu67Ile) c.721C>A (p.Leu241Ile) c.587-22717C>A (n.587-22717C>A) c.539-22717C>A (n.539-22717C>A) c.127C>A (p.Leu43Ile) | |
| 9 | g.894046C= | CA1827190730 | DMRT1 | c.673C= (p.Leu225=) n.822C= c.199C= (p.Leu67=) c.721C= (p.Leu241=) c.587-22717C= (n.587-22717C=) c.539-22717C= (n.539-22717C=) c.127C= (p.Leu43=) | |
| 9 | g.894046C>G | CA372776740 | DMRT1 | c.673C>G (p.Leu225Val) n.822C>G c.199C>G (p.Leu67Val) c.721C>G (p.Leu241Val) c.587-22717C>G (n.587-22717C>G) c.539-22717C>G (n.539-22717C>G) c.127C>G (p.Leu43Val) | dbSNP |
| 9 | g.894046C>T | CA463850346 | DMRT1 | c.673C>T (p.Leu225=) n.822C>T c.199C>T (p.Leu67=) c.721C>T (p.Leu241=) c.587-22717C>T (n.587-22717C>T) c.539-22717C>T (n.539-22717C>T) c.127C>T (p.Leu43=) | |
| 9 | g.894047T>A | CA372776742 | DMRT1 | c.674T>A (p.Leu225Gln) n.823T>A c.200T>A (p.Leu67Gln) c.722T>A (p.Leu241Gln) c.587-22716T>A (n.587-22716T>A) c.539-22716T>A (n.539-22716T>A) c.128T>A (p.Leu43Gln) | |
| 9 | g.894047T>C | CA372776743 | DMRT1 | c.674T>C (p.Leu225Pro) n.823T>C c.200T>C (p.Leu67Pro) c.722T>C (p.Leu241Pro) c.587-22716T>C (n.587-22716T>C) c.539-22716T>C (n.539-22716T>C) c.128T>C (p.Leu43Pro) | |
| 9 | g.894047T>G | CA372776744 | DMRT1 | c.674T>G (p.Leu225Arg) n.823T>G c.200T>G (p.Leu67Arg) c.722T>G (p.Leu241Arg) c.587-22716T>G (n.587-22716T>G) c.539-22716T>G (n.539-22716T>G) c.128T>G (p.Leu43Arg) | |
| 9 | g.894048A= | CA1827190732 | DMRT1 | c.675A= (p.Leu225=) n.824A= c.201A= (p.Leu67=) c.723A= (p.Leu241=) c.587-22715A= (n.587-22715A=) c.539-22715A= (n.539-22715A=) c.129A= (p.Leu43=) | |
| 9 | g.894048A>C | CA4961620 | DMRT1 | c.675A>C (p.Leu225=) n.824A>C c.201A>C (p.Leu67=) c.723A>C (p.Leu241=) c.587-22715A>C (n.587-22715A>C) c.539-22715A>C (n.539-22715A>C) c.129A>C (p.Leu43=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.894048A>G | CA187864940 | DMRT1 | c.675A>G (p.Leu225=) n.824A>G c.201A>G (p.Leu67=) c.723A>G (p.Leu241=) c.587-22715A>G (n.587-22715A>G) c.539-22715A>G (n.539-22715A>G) c.129A>G (p.Leu43=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.894048A>T | CA463850347 | DMRT1 | c.675A>T (p.Leu225=) n.824A>T c.201A>T (p.Leu67=) c.723A>T (p.Leu241=) c.587-22715A>T (n.587-22715A>T) c.539-22715A>T (n.539-22715A>T) c.129A>T (p.Leu43=) | |
| 9 | g.894049T>A | CA372776746 | DMRT1 | c.676T>A (p.Tyr226Asn) n.825T>A c.202T>A (p.Tyr68Asn) c.724T>A (p.Tyr242Asn) c.587-22714T>A (n.587-22714T>A) c.539-22714T>A (n.539-22714T>A) c.130T>A (p.Tyr44Asn) | |
| 9 | g.894049T>C | CA372776748 | DMRT1 | c.676T>C (p.Tyr226His) n.825T>C c.202T>C (p.Tyr68His) c.724T>C (p.Tyr242His) c.587-22714T>C (n.587-22714T>C) c.539-22714T>C (n.539-22714T>C) c.130T>C (p.Tyr44His) | dbSNP gnomAD v4 |
| 9 | g.894049T>G | CA372776749 | DMRT1 | c.676T>G (p.Tyr226Asp) n.825T>G c.202T>G (p.Tyr68Asp) c.724T>G (p.Tyr242Asp) c.587-22714T>G (n.587-22714T>G) c.539-22714T>G (n.539-22714T>G) c.130T>G (p.Tyr44Asp) | |
| 9 | g.894049T= | CA1827190736 | DMRT1 | c.676T= (p.Tyr226=) n.825T= c.202T= (p.Tyr68=) c.724T= (p.Tyr242=) c.587-22714T= (n.587-22714T=) c.539-22714T= (n.539-22714T=) c.130T= (p.Tyr44=) |