Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
9 | g.894050A>C | CA372776752 | DMRT1 | c.677A>C (p.Tyr226Ser) n.826A>C c.203A>C (p.Tyr68Ser) c.725A>C (p.Tyr242Ser) c.587-22713A>C (n.587-22713A>C) c.539-22713A>C (n.539-22713A>C) c.131A>C (p.Tyr44Ser) | |
9 | g.894050A>G | CA372776754 | DMRT1 | c.677A>G (p.Tyr226Cys) n.826A>G c.203A>G (p.Tyr68Cys) c.725A>G (p.Tyr242Cys) c.587-22713A>G (n.587-22713A>G) c.539-22713A>G (n.539-22713A>G) c.131A>G (p.Tyr44Cys) | gnomAD v4 |
9 | g.894050A>T | CA372776751 | DMRT1 | c.677A>T (p.Tyr226Phe) n.826A>T c.203A>T (p.Tyr68Phe) c.725A>T (p.Tyr242Phe) c.587-22713A>T (n.587-22713A>T) c.539-22713A>T (n.539-22713A>T) c.131A>T (p.Tyr44Phe) | |
9 | g.894051C>A | CA372776757 | DMRT1 | c.678C>A (p.Tyr226Ter) n.827C>A c.204C>A (p.Tyr68Ter) c.726C>A (p.Tyr242Ter) c.587-22712C>A (n.587-22712C>A) c.539-22712C>A (n.539-22712C>A) c.132C>A (p.Tyr44Ter) | COSMIC |
9 | g.894051C= | CA1827190739 | DMRT1 | c.678C= (p.Tyr226=) n.827C= c.204C= (p.Tyr68=) c.726C= (p.Tyr242=) c.587-22712C= (n.587-22712C=) c.539-22712C= (n.539-22712C=) c.132C= (p.Tyr44=) | |
9 | g.894051C>G | CA372776755 | DMRT1 | c.678C>G (p.Tyr226Ter) n.827C>G c.204C>G (p.Tyr68Ter) c.726C>G (p.Tyr242Ter) c.587-22712C>G (n.587-22712C>G) c.539-22712C>G (n.539-22712C>G) c.132C>G (p.Tyr44Ter) | |
9 | g.894051C>T | CA463850348 | DMRT1 | c.678C>T (p.Tyr226=) n.827C>T c.204C>T (p.Tyr68=) c.726C>T (p.Tyr242=) c.587-22712C>T (n.587-22712C>T) c.539-22712C>T (n.539-22712C>T) c.132C>T (p.Tyr44=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894052A>C | CA372776761 | DMRT1 | c.679A>C (p.Asn227His) n.828A>C c.205A>C (p.Asn69His) c.727A>C (p.Asn243His) c.587-22711A>C (n.587-22711A>C) c.539-22711A>C (n.539-22711A>C) c.133A>C (p.Asn45His) | |
9 | g.894052A>G | CA372776759 | DMRT1 | c.679A>G (p.Asn227Asp) n.828A>G c.205A>G (p.Asn69Asp) c.727A>G (p.Asn243Asp) c.587-22711A>G (n.587-22711A>G) c.539-22711A>G (n.539-22711A>G) c.133A>G (p.Asn45Asp) | |
9 | g.894052A>T | CA372776760 | DMRT1 | c.679A>T (p.Asn227Tyr) n.828A>T c.205A>T (p.Asn69Tyr) c.727A>T (p.Asn243Tyr) c.587-22711A>T (n.587-22711A>T) c.539-22711A>T (n.539-22711A>T) c.133A>T (p.Asn45Tyr) | COSMIC |
9 | g.894053A= | CA1827190742 | DMRT1 | c.680A= (p.Asn227=) n.829A= c.206A= (p.Asn69=) c.728A= (p.Asn243=) c.587-22710A= (n.587-22710A=) c.539-22710A= (n.539-22710A=) c.134A= (p.Asn45=) | |
9 | g.894053A>C | CA372776763 | DMRT1 | c.680A>C (p.Asn227Thr) n.829A>C c.206A>C (p.Asn69Thr) c.728A>C (p.Asn243Thr) c.587-22710A>C (n.587-22710A>C) c.539-22710A>C (n.539-22710A>C) c.134A>C (p.Asn45Thr) | |
9 | g.894053A>G | CA4961621 | DMRT1 | c.680A>G (p.Asn227Ser) n.829A>G c.206A>G (p.Asn69Ser) c.728A>G (p.Asn243Ser) c.587-22710A>G (n.587-22710A>G) c.539-22710A>G (n.539-22710A>G) c.134A>G (p.Asn45Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894053A>T | CA372776766 | DMRT1 | c.680A>T (p.Asn227Ile) n.829A>T c.206A>T (p.Asn69Ile) c.728A>T (p.Asn243Ile) c.587-22710A>T (n.587-22710A>T) c.539-22710A>T (n.539-22710A>T) c.134A>T (p.Asn45Ile) | |
9 | g.894054C>A | CA372776767 | DMRT1 | c.681C>A (p.Asn227Lys) n.830C>A c.207C>A (p.Asn69Lys) c.729C>A (p.Asn243Lys) c.587-22709C>A (n.587-22709C>A) c.539-22709C>A (n.539-22709C>A) c.135C>A (p.Asn45Lys) | |
9 | g.894054C= | CA1827190743 | DMRT1 | c.681C= (p.Asn227=) n.830C= c.207C= (p.Asn69=) c.729C= (p.Asn243=) c.587-22709C= (n.587-22709C=) c.539-22709C= (n.539-22709C=) c.135C= (p.Asn45=) | |
9 | g.894054C>G | CA372776768 | DMRT1 | c.681C>G (p.Asn227Lys) n.830C>G c.207C>G (p.Asn69Lys) c.729C>G (p.Asn243Lys) c.587-22709C>G (n.587-22709C>G) c.539-22709C>G (n.539-22709C>G) c.135C>G (p.Asn45Lys) | |
9 | g.894054C>T | CA463850349 | DMRT1 | c.681C>T (p.Asn227=) n.830C>T c.207C>T (p.Asn69=) c.729C>T (p.Asn243=) c.587-22709C>T (n.587-22709C>T) c.539-22709C>T (n.539-22709C>T) c.135C>T (p.Asn45=) | dbSNP gnomAD v4 |
9 | g.894055T>A | CA372776773 | DMRT1 | c.682T>A (p.Cys228Ser) n.831T>A c.208T>A (p.Cys70Ser) c.730T>A (p.Cys244Ser) c.587-22708T>A (n.587-22708T>A) c.539-22708T>A (n.539-22708T>A) c.136T>A (p.Cys46Ser) | |
9 | g.894055T>C | CA372776770 | DMRT1 | c.682T>C (p.Cys228Arg) n.831T>C c.208T>C (p.Cys70Arg) c.730T>C (p.Cys244Arg) c.587-22708T>C (n.587-22708T>C) c.539-22708T>C (n.539-22708T>C) c.136T>C (p.Cys46Arg) | COSMIC |
9 | g.894055T>G | CA372776772 | DMRT1 | c.682T>G (p.Cys228Gly) n.831T>G c.208T>G (p.Cys70Gly) c.730T>G (p.Cys244Gly) c.587-22708T>G (n.587-22708T>G) c.539-22708T>G (n.539-22708T>G) c.136T>G (p.Cys46Gly) | |
9 | g.894056G>A | CA372776775 | DMRT1 | c.683G>A (p.Cys228Tyr) n.832G>A c.209G>A (p.Cys70Tyr) c.731G>A (p.Cys244Tyr) c.587-22707G>A (n.587-22707G>A) c.539-22707G>A (n.539-22707G>A) c.137G>A (p.Cys46Tyr) | gnomAD v3 gnomAD v4 |
9 | g.894056G>C | CA372776776 | DMRT1 | c.683G>C (p.Cys228Ser) n.832G>C c.209G>C (p.Cys70Ser) c.731G>C (p.Cys244Ser) c.587-22707G>C (n.587-22707G>C) c.539-22707G>C (n.539-22707G>C) c.137G>C (p.Cys46Ser) | |
9 | g.894056G>T | CA372776778 | DMRT1 | c.683G>T (p.Cys228Phe) n.832G>T c.209G>T (p.Cys70Phe) c.731G>T (p.Cys244Phe) c.587-22707G>T (n.587-22707G>T) c.539-22707G>T (n.539-22707G>T) c.137G>T (p.Cys46Phe) | |
9 | g.894057C>A | CA372776780 | DMRT1 | c.684C>A (p.Cys228Ter) n.833C>A c.210C>A (p.Cys70Ter) c.732C>A (p.Cys244Ter) c.587-22706C>A (n.587-22706C>A) c.539-22706C>A (n.539-22706C>A) c.138C>A (p.Cys46Ter) | |
9 | g.894057C= | CA1827190747 | DMRT1 | c.684C= (p.Cys228=) n.833C= c.210C= (p.Cys70=) c.732C= (p.Cys244=) c.587-22706C= (n.587-22706C=) c.539-22706C= (n.539-22706C=) c.138C= (p.Cys46=) | |
9 | g.894057C>G | CA372776781 | DMRT1 | c.684C>G (p.Cys228Trp) n.833C>G c.210C>G (p.Cys70Trp) c.732C>G (p.Cys244Trp) c.587-22706C>G (n.587-22706C>G) c.539-22706C>G (n.539-22706C>G) c.138C>G (p.Cys46Trp) | |
9 | g.894057C>T | CA187864954 | DMRT1 | c.684C>T (p.Cys228=) n.833C>T c.210C>T (p.Cys70=) c.732C>T (p.Cys244=) c.587-22706C>T (n.587-22706C>T) c.539-22706C>T (n.539-22706C>T) c.138C>T (p.Cys46=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894058C>A | CA4961622 | DMRT1 | c.685C>A (p.Pro229Thr) n.834C>A c.211C>A (p.Pro71Thr) c.733C>A (p.Pro245Thr) c.587-22705C>A (n.587-22705C>A) c.539-22705C>A (n.539-22705C>A) c.139C>A (p.Pro47Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894058C= | CA1827190750 | DMRT1 | c.685C= (p.Pro229=) n.834C= c.211C= (p.Pro71=) c.733C= (p.Pro245=) c.587-22705C= (n.587-22705C=) c.539-22705C= (n.539-22705C=) c.139C= (p.Pro47=) | |
9 | g.894058C>G | CA372776786 | DMRT1 | c.685C>G (p.Pro229Ala) n.834C>G c.211C>G (p.Pro71Ala) c.733C>G (p.Pro245Ala) c.587-22705C>G (n.587-22705C>G) c.539-22705C>G (n.539-22705C>G) c.139C>G (p.Pro47Ala) | |
9 | g.894058C>T | CA372776784 | DMRT1 | c.685C>T (p.Pro229Ser) n.834C>T c.211C>T (p.Pro71Ser) c.733C>T (p.Pro245Ser) c.587-22705C>T (n.587-22705C>T) c.539-22705C>T (n.539-22705C>T) c.139C>T (p.Pro47Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894059C>A | CA4961623 | DMRT1 | c.686C>A (p.Pro229Gln) n.835C>A c.212C>A (p.Pro71Gln) c.734C>A (p.Pro245Gln) c.587-22704C>A (n.587-22704C>A) c.539-22704C>A (n.539-22704C>A) c.140C>A (p.Pro47Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.894059C= | CA1827190752 | DMRT1 | c.686C= (p.Pro229=) n.835C= c.212C= (p.Pro71=) c.734C= (p.Pro245=) c.587-22704C= (n.587-22704C=) c.539-22704C= (n.539-22704C=) c.140C= (p.Pro47=) | |
9 | g.894059C>G | CA372776788 | DMRT1 | c.686C>G (p.Pro229Arg) n.835C>G c.212C>G (p.Pro71Arg) c.734C>G (p.Pro245Arg) c.587-22704C>G (n.587-22704C>G) c.539-22704C>G (n.539-22704C>G) c.140C>G (p.Pro47Arg) | dbSNP |
9 | g.894059C>T | CA372776789 | DMRT1 | c.686C>T (p.Pro229Leu) n.835C>T c.212C>T (p.Pro71Leu) c.734C>T (p.Pro245Leu) c.587-22704C>T (n.587-22704C>T) c.539-22704C>T (n.539-22704C>T) c.140C>T (p.Pro47Leu) | |
9 | g.894060G>A | CA4961624 | DMRT1 | c.687G>A (p.Pro229=) n.836G>A c.213G>A (p.Pro71=) c.735G>A (p.Pro245=) c.587-22703G>A (n.587-22703G>A) c.539-22703G>A (n.539-22703G>A) c.141G>A (p.Pro47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.894060G>C | CA463850350 | DMRT1 | c.687G>C (p.Pro229=) n.836G>C c.213G>C (p.Pro71=) c.735G>C (p.Pro245=) c.587-22703G>C (n.587-22703G>C) c.539-22703G>C (n.539-22703G>C) c.141G>C (p.Pro47=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.894060G= | CA1827190757 | DMRT1 | c.687G= (p.Pro229=) n.836G= c.213G= (p.Pro71=) c.735G= (p.Pro245=) c.587-22703G= (n.587-22703G=) c.539-22703G= (n.539-22703G=) c.141G= (p.Pro47=) | |
9 | g.894060G>T | CA463850351 | DMRT1 | c.687G>T (p.Pro229=) n.836G>T c.213G>T (p.Pro71=) c.735G>T (p.Pro245=) c.587-22703G>T (n.587-22703G>T) c.539-22703G>T (n.539-22703G>T) c.141G>T (p.Pro47=) | |
9 | g.894061C>A | CA372776792 | DMRT1 | c.688C>A (p.Gln230Lys) n.837C>A c.214C>A (p.Gln72Lys) c.736C>A (p.Gln246Lys) c.587-22702C>A (n.587-22702C>A) c.539-22702C>A (n.539-22702C>A) c.142C>A (p.Gln48Lys) | |
9 | g.894061C>G | CA372776794 | DMRT1 | c.688C>G (p.Gln230Glu) n.837C>G c.214C>G (p.Gln72Glu) c.736C>G (p.Gln246Glu) c.587-22702C>G (n.587-22702C>G) c.539-22702C>G (n.539-22702C>G) c.142C>G (p.Gln48Glu) | |
9 | g.894061C>T | CA372776796 | DMRT1 | c.688C>T (p.Gln230Ter) n.837C>T c.214C>T (p.Gln72Ter) c.736C>T (p.Gln246Ter) c.587-22702C>T (n.587-22702C>T) c.539-22702C>T (n.539-22702C>T) c.142C>T (p.Gln48Ter) | |
9 | g.894062A>C | CA372776798 | DMRT1 | c.689A>C (p.Gln230Pro) n.838A>C c.215A>C (p.Gln72Pro) c.737A>C (p.Gln246Pro) c.587-22701A>C (n.587-22701A>C) c.539-22701A>C (n.539-22701A>C) c.143A>C (p.Gln48Pro) | |
9 | g.894062A>G | CA372776799 | DMRT1 | c.689A>G (p.Gln230Arg) n.838A>G c.215A>G (p.Gln72Arg) c.737A>G (p.Gln246Arg) c.587-22701A>G (n.587-22701A>G) c.539-22701A>G (n.539-22701A>G) c.143A>G (p.Gln48Arg) | |
9 | g.894062A>T | CA372776800 | DMRT1 | c.689A>T (p.Gln230Leu) n.838A>T c.215A>T (p.Gln72Leu) c.737A>T (p.Gln246Leu) c.587-22701A>T (n.587-22701A>T) c.539-22701A>T (n.539-22701A>T) c.143A>T (p.Gln48Leu) | |
9 | g.894063G>A | CA463850352 | DMRT1 | c.690G>A (p.Gln230=) n.839G>A c.216G>A (p.Gln72=) c.738G>A (p.Gln246=) c.587-22700G>A (n.587-22700G>A) c.539-22700G>A (n.539-22700G>A) c.144G>A (p.Gln48=) | |
9 | g.894063G>C | CA372776801 | DMRT1 | c.690G>C (p.Gln230His) n.839G>C c.216G>C (p.Gln72His) c.738G>C (p.Gln246His) c.587-22700G>C (n.587-22700G>C) c.539-22700G>C (n.539-22700G>C) c.144G>C (p.Gln48His) | dbSNP gnomAD v4 |
9 | g.894063G= | CA1827190760 | DMRT1 | c.690G= (p.Gln230=) n.839G= c.216G= (p.Gln72=) c.738G= (p.Gln246=) c.587-22700G= (n.587-22700G=) c.539-22700G= (n.539-22700G=) c.144G= (p.Gln48=) | |
9 | g.894063G>T | CA372776802 | DMRT1 | c.690G>T (p.Gln230His) n.839G>T c.216G>T (p.Gln72His) c.738G>T (p.Gln246His) c.587-22700G>T (n.587-22700G>T) c.539-22700G>T (n.539-22700G>T) c.144G>T (p.Gln48His) | |
9 | g.894064T>A | CA372776803 | DMRT1 | c.691T>A (p.Tyr231Asn) n.840T>A c.217T>A (p.Tyr73Asn) c.739T>A (p.Tyr247Asn) c.587-22699T>A (n.587-22699T>A) c.539-22699T>A (n.539-22699T>A) c.145T>A (p.Tyr49Asn) | |
9 | g.894064T>C | CA372776805 | DMRT1 | c.691T>C (p.Tyr231His) n.840T>C c.217T>C (p.Tyr73His) c.739T>C (p.Tyr247His) c.587-22699T>C (n.587-22699T>C) c.539-22699T>C (n.539-22699T>C) c.145T>C (p.Tyr49His) | |
9 | g.894064T>G | CA372776804 | DMRT1 | c.691T>G (p.Tyr231Asp) n.840T>G c.217T>G (p.Tyr73Asp) c.739T>G (p.Tyr247Asp) c.587-22699T>G (n.587-22699T>G) c.539-22699T>G (n.539-22699T>G) c.145T>G (p.Tyr49Asp) | |
9 | g.894065A>C | CA372776807 | DMRT1 | c.692A>C (p.Tyr231Ser) n.841A>C c.218A>C (p.Tyr73Ser) c.740A>C (p.Tyr247Ser) c.587-22698A>C (n.587-22698A>C) c.539-22698A>C (n.539-22698A>C) c.146A>C (p.Tyr49Ser) | gnomAD v4 |
9 | g.894065A>G | CA372776808 | DMRT1 | c.692A>G (p.Tyr231Cys) n.841A>G c.218A>G (p.Tyr73Cys) c.740A>G (p.Tyr247Cys) c.587-22698A>G (n.587-22698A>G) c.539-22698A>G (n.539-22698A>G) c.146A>G (p.Tyr49Cys) | |
9 | g.894065A>T | CA372776809 | DMRT1 | c.692A>T (p.Tyr231Phe) n.841A>T c.218A>T (p.Tyr73Phe) c.740A>T (p.Tyr247Phe) c.587-22698A>T (n.587-22698A>T) c.539-22698A>T (n.539-22698A>T) c.146A>T (p.Tyr49Phe) | |
9 | g.894066C>A | CA372776811 | DMRT1 | c.693C>A (p.Tyr231Ter) n.842C>A c.219C>A (p.Tyr73Ter) c.741C>A (p.Tyr247Ter) c.587-22697C>A (n.587-22697C>A) c.539-22697C>A (n.539-22697C>A) c.147C>A (p.Tyr49Ter) | |
9 | g.894066C= | CA1827190763 | DMRT1 | c.693C= (p.Tyr231=) n.842C= c.219C= (p.Tyr73=) c.741C= (p.Tyr247=) c.587-22697C= (n.587-22697C=) c.539-22697C= (n.539-22697C=) c.147C= (p.Tyr49=) | |
9 | g.894066C>G | CA372776813 | DMRT1 | c.693C>G (p.Tyr231Ter) n.842C>G c.219C>G (p.Tyr73Ter) c.741C>G (p.Tyr247Ter) c.587-22697C>G (n.587-22697C>G) c.539-22697C>G (n.539-22697C>G) c.147C>G (p.Tyr49Ter) | |
9 | g.894066C>T | CA4961625 | DMRT1 | c.693C>T (p.Tyr231=) n.842C>T c.219C>T (p.Tyr73=) c.741C>T (p.Tyr247=) c.587-22697C>T (n.587-22697C>T) c.539-22697C>T (n.539-22697C>T) c.147C>T (p.Tyr49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894067T>A | CA372776815 | DMRT1 | c.694T>A (p.Ser232Thr) n.843T>A c.220T>A (p.Ser74Thr) c.742T>A (p.Ser248Thr) c.587-22696T>A (n.587-22696T>A) c.539-22696T>A (n.539-22696T>A) c.148T>A (p.Ser50Thr) | |
9 | g.894067T>C | CA372776816 | DMRT1 | c.694T>C (p.Ser232Pro) n.843T>C c.220T>C (p.Ser74Pro) c.742T>C (p.Ser248Pro) c.587-22696T>C (n.587-22696T>C) c.539-22696T>C (n.539-22696T>C) c.148T>C (p.Ser50Pro) | |
9 | g.894067T>G | CA372776817 | DMRT1 | c.694T>G (p.Ser232Ala) n.843T>G c.220T>G (p.Ser74Ala) c.742T>G (p.Ser248Ala) c.587-22696T>G (n.587-22696T>G) c.539-22696T>G (n.539-22696T>G) c.148T>G (p.Ser50Ala) | |
9 | g.894068C>A | CA372776820 | DMRT1 | c.695C>A (p.Ser232Tyr) n.844C>A c.221C>A (p.Ser74Tyr) c.743C>A (p.Ser248Tyr) c.587-22695C>A (n.587-22695C>A) c.539-22695C>A (n.539-22695C>A) c.149C>A (p.Ser50Tyr) | |
9 | g.894068C>G | CA372776821 | DMRT1 | c.695C>G (p.Ser232Cys) n.844C>G c.221C>G (p.Ser74Cys) c.743C>G (p.Ser248Cys) c.587-22695C>G (n.587-22695C>G) c.539-22695C>G (n.539-22695C>G) c.149C>G (p.Ser50Cys) | |
9 | g.894068C>T | CA372776823 | DMRT1 | c.695C>T (p.Ser232Phe) n.844C>T c.221C>T (p.Ser74Phe) c.743C>T (p.Ser248Phe) c.587-22695C>T (n.587-22695C>T) c.539-22695C>T (n.539-22695C>T) c.149C>T (p.Ser50Phe) | |
9 | g.894069C>A | CA463850356 | DMRT1 | c.696C>A (p.Ser232=) n.845C>A c.222C>A (p.Ser74=) c.744C>A (p.Ser248=) c.587-22694C>A (n.587-22694C>A) c.539-22694C>A (n.539-22694C>A) c.150C>A (p.Ser50=) | gnomAD v4 |
9 | g.894069C= | CA1827190768 | DMRT1 | c.696C= (p.Ser232=) n.845C= c.222C= (p.Ser74=) c.744C= (p.Ser248=) c.587-22694C= (n.587-22694C=) c.539-22694C= (n.539-22694C=) c.150C= (p.Ser50=) | |
9 | g.894069C>G | CA463850357 | DMRT1 | c.696C>G (p.Ser232=) n.845C>G c.222C>G (p.Ser74=) c.744C>G (p.Ser248=) c.587-22694C>G (n.587-22694C>G) c.539-22694C>G (n.539-22694C>G) c.150C>G (p.Ser50=) | |
9 | g.894069C>T | CA463850358 | DMRT1 | c.696C>T (p.Ser232=) n.845C>T c.222C>T (p.Ser74=) c.744C>T (p.Ser248=) c.587-22694C>T (n.587-22694C>T) c.539-22694C>T (n.539-22694C>T) c.150C>T (p.Ser50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894070A= | CA1827190769 | DMRT1 | c.697A= (p.Met233=) n.846A= c.223A= (p.Met75=) c.745A= (p.Met249=) c.587-22693A= (n.587-22693A=) c.539-22693A= (n.539-22693A=) c.151A= (p.Met51=) | |
9 | g.894070A>C | CA372776827 | DMRT1 | c.697A>C (p.Met233Leu) n.846A>C c.223A>C (p.Met75Leu) c.745A>C (p.Met249Leu) c.587-22693A>C (n.587-22693A>C) c.539-22693A>C (n.539-22693A>C) c.151A>C (p.Met51Leu) | |
9 | g.894070A>G | CA372776824 | DMRT1 | c.697A>G (p.Met233Val) n.846A>G c.223A>G (p.Met75Val) c.745A>G (p.Met249Val) c.587-22693A>G (n.587-22693A>G) c.539-22693A>G (n.539-22693A>G) c.151A>G (p.Met51Val) | dbSNP |
9 | g.894070A>T | CA372776825 | DMRT1 | c.697A>T (p.Met233Leu) n.846A>T c.223A>T (p.Met75Leu) c.745A>T (p.Met249Leu) c.587-22693A>T (n.587-22693A>T) c.539-22693A>T (n.539-22693A>T) c.151A>T (p.Met51Leu) | |
9 | g.894071T>A | CA187864973 | DMRT1 | c.698T>A (p.Met233Lys) n.847T>A c.224T>A (p.Met75Lys) c.746T>A (p.Met249Lys) c.587-22692T>A (n.587-22692T>A) c.539-22692T>A (n.539-22692T>A) c.152T>A (p.Met51Lys) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.894071T>C | CA372776829 | DMRT1 | c.698T>C (p.Met233Thr) n.847T>C c.224T>C (p.Met75Thr) c.746T>C (p.Met249Thr) c.587-22692T>C (n.587-22692T>C) c.539-22692T>C (n.539-22692T>C) c.152T>C (p.Met51Thr) | |
9 | g.894071T>G | CA372776831 | DMRT1 | c.698T>G (p.Met233Arg) n.847T>G c.224T>G (p.Met75Arg) c.746T>G (p.Met249Arg) c.587-22692T>G (n.587-22692T>G) c.539-22692T>G (n.539-22692T>G) c.152T>G (p.Met51Arg) | |
9 | g.894071T= | CA1827190771 | DMRT1 | c.698T= (p.Met233=) n.847T= c.224T= (p.Met75=) c.746T= (p.Met249=) c.587-22692T= (n.587-22692T=) c.539-22692T= (n.539-22692T=) c.152T= (p.Met51=) | |
9 | g.894072G>A | CA372776832 | DMRT1 | c.699G>A (p.Met233Ile) n.848G>A c.225G>A (p.Met75Ile) c.747G>A (p.Met249Ile) c.587-22691G>A (n.587-22691G>A) c.539-22691G>A (n.539-22691G>A) c.153G>A (p.Met51Ile) | gnomAD v4 |
9 | g.894072G>C | CA372776833 | DMRT1 | c.699G>C (p.Met233Ile) n.848G>C c.225G>C (p.Met75Ile) c.747G>C (p.Met249Ile) c.587-22691G>C (n.587-22691G>C) c.539-22691G>C (n.539-22691G>C) c.153G>C (p.Met51Ile) | gnomAD v4 |
9 | g.894072G>T | CA372776835 | DMRT1 | c.699G>T (p.Met233Ile) n.848G>T c.225G>T (p.Met75Ile) c.747G>T (p.Met249Ile) c.587-22691G>T (n.587-22691G>T) c.539-22691G>T (n.539-22691G>T) c.153G>T (p.Met51Ile) | |
9 | g.894073G>A | CA372776836 | DMRT1 | c.700G>A (p.Ala234Thr) n.849G>A c.226G>A (p.Ala76Thr) c.748G>A (p.Ala250Thr) c.587-22690G>A (n.587-22690G>A) c.539-22690G>A (n.539-22690G>A) c.154G>A (p.Ala52Thr) | dbSNP |
9 | g.894073G>C | CA372776838 | DMRT1 | c.700G>C (p.Ala234Pro) n.849G>C c.226G>C (p.Ala76Pro) c.748G>C (p.Ala250Pro) c.587-22690G>C (n.587-22690G>C) c.539-22690G>C (n.539-22690G>C) c.154G>C (p.Ala52Pro) | dbSNP gnomAD v4 |
9 | g.894073G= | CA1827190774 | DMRT1 | c.700G= (p.Ala234=) n.849G= c.226G= (p.Ala76=) c.748G= (p.Ala250=) c.587-22690G= (n.587-22690G=) c.539-22690G= (n.539-22690G=) c.154G= (p.Ala52=) | |
9 | g.894073G>T | CA187864974 | DMRT1 | c.700G>T (p.Ala234Ser) n.849G>T c.226G>T (p.Ala76Ser) c.748G>T (p.Ala250Ser) c.587-22690G>T (n.587-22690G>T) c.539-22690G>T (n.539-22690G>T) c.154G>T (p.Ala52Ser) | dbSNP gnomAD v4 |
9 | g.894074C>A | CA372776839 | DMRT1 | c.701C>A (p.Ala234Asp) n.850C>A c.227C>A (p.Ala76Asp) c.749C>A (p.Ala250Asp) c.587-22689C>A (n.587-22689C>A) c.539-22689C>A (n.539-22689C>A) c.155C>A (p.Ala52Asp) | |
9 | g.894074C= | CA1827190779 | DMRT1 | c.701C= (p.Ala234=) n.850C= c.227C= (p.Ala76=) c.749C= (p.Ala250=) c.587-22689C= (n.587-22689C=) c.539-22689C= (n.539-22689C=) c.155C= (p.Ala52=) | |
9 | g.894074C>G | CA372776841 | DMRT1 | c.701C>G (p.Ala234Gly) n.850C>G c.227C>G (p.Ala76Gly) c.749C>G (p.Ala250Gly) c.587-22689C>G (n.587-22689C>G) c.539-22689C>G (n.539-22689C>G) c.155C>G (p.Ala52Gly) | gnomAD v4 |
9 | g.894074C>T | CA372776843 | DMRT1 | c.701C>T (p.Ala234Val) n.850C>T c.227C>T (p.Ala76Val) c.749C>T (p.Ala250Val) c.587-22689C>T (n.587-22689C>T) c.539-22689C>T (n.539-22689C>T) c.155C>T (p.Ala52Val) | dbSNP gnomAD v4 |
9 | g.894075C>A | CA463850364 | DMRT1 | c.702C>A (p.Ala234=) n.851C>A c.228C>A (p.Ala76=) c.750C>A (p.Ala250=) c.587-22688C>A (n.587-22688C>A) c.539-22688C>A (n.539-22688C>A) c.156C>A (p.Ala52=) | |
9 | g.894075C>G | CA463850365 | DMRT1 | c.702C>G (p.Ala234=) n.851C>G c.228C>G (p.Ala76=) c.750C>G (p.Ala250=) c.587-22688C>G (n.587-22688C>G) c.539-22688C>G (n.539-22688C>G) c.156C>G (p.Ala52=) | gnomAD v4 |
9 | g.894075C>T | CA463850363 | DMRT1 | c.702C>T (p.Ala234=) n.851C>T c.228C>T (p.Ala76=) c.750C>T (p.Ala250=) c.587-22688C>T (n.587-22688C>T) c.539-22688C>T (n.539-22688C>T) c.156C>T (p.Ala52=) | |
9 | g.894076T>A | CA372776844 | DMRT1 | c.703T>A (p.Leu235Met) n.852T>A c.229T>A (p.Leu77Met) c.751T>A (p.Leu251Met) c.587-22687T>A (n.587-22687T>A) c.539-22687T>A (n.539-22687T>A) c.157T>A (p.Leu53Met) | |
9 | g.894076T>C | CA463850368 | DMRT1 | c.703T>C (p.Leu235=) n.852T>C c.229T>C (p.Leu77=) c.751T>C (p.Leu251=) c.587-22687T>C (n.587-22687T>C) c.539-22687T>C (n.539-22687T>C) c.157T>C (p.Leu53=) | COSMIC |
9 | g.894076T>G | CA372776846 | DMRT1 | c.703T>G (p.Leu235Val) n.852T>G c.229T>G (p.Leu77Val) c.751T>G (p.Leu251Val) c.587-22687T>G (n.587-22687T>G) c.539-22687T>G (n.539-22687T>G) c.157T>G (p.Leu53Val) | |
9 | g.894077T>A | CA372776847 | DMRT1 | c.704T>A (p.Leu235Ter) n.853T>A c.230T>A (p.Leu77Ter) c.752T>A (p.Leu251Ter) c.587-22686T>A (n.587-22686T>A) c.539-22686T>A (n.539-22686T>A) c.158T>A (p.Leu53Ter) | |
9 | g.894077T>C | CA372776849 | DMRT1 | c.704T>C (p.Leu235Ser) n.853T>C c.230T>C (p.Leu77Ser) c.752T>C (p.Leu251Ser) c.587-22686T>C (n.587-22686T>C) c.539-22686T>C (n.539-22686T>C) c.158T>C (p.Leu53Ser) | |
9 | g.894077T>G | CA372776848 | DMRT1 | c.704T>G (p.Leu235Trp) n.853T>G c.230T>G (p.Leu77Trp) c.752T>G (p.Leu251Trp) c.587-22686T>G (n.587-22686T>G) c.539-22686T>G (n.539-22686T>G) c.158T>G (p.Leu53Trp) | |
9 | g.894078G>A | CA463850370 | DMRT1 | c.705G>A (p.Leu235=) n.854G>A c.231G>A (p.Leu77=) c.753G>A (p.Leu251=) c.587-22685G>A (n.587-22685G>A) c.539-22685G>A (n.539-22685G>A) c.159G>A (p.Leu53=) | gnomAD v4 |
9 | g.894078G>C | CA372776850 | DMRT1 | c.705G>C (p.Leu235Phe) n.854G>C c.231G>C (p.Leu77Phe) c.753G>C (p.Leu251Phe) c.587-22685G>C (n.587-22685G>C) c.539-22685G>C (n.539-22685G>C) c.159G>C (p.Leu53Phe) | ClinVar gnomAD v4 |
9 | g.894078G>T | CA372776852 | DMRT1 | c.705G>T (p.Leu235Phe) n.854G>T c.231G>T (p.Leu77Phe) c.753G>T (p.Leu251Phe) c.587-22685G>T (n.587-22685G>T) c.539-22685G>T (n.539-22685G>T) c.159G>T (p.Leu53Phe) | |
9 | g.894079G>A | CA372776854 | DMRT1 | c.706G>A (p.Ala236Thr) n.855G>A c.232G>A (p.Ala78Thr) c.754G>A (p.Ala252Thr) c.587-22684G>A (n.587-22684G>A) c.539-22684G>A (n.539-22684G>A) c.160G>A (p.Ala54Thr) | gnomAD v4 |
9 | g.894079G>C | CA372776855 | DMRT1 | c.706G>C (p.Ala236Pro) n.855G>C c.232G>C (p.Ala78Pro) c.754G>C (p.Ala252Pro) c.587-22684G>C (n.587-22684G>C) c.539-22684G>C (n.539-22684G>C) c.160G>C (p.Ala54Pro) | |
9 | g.894079G>T | CA372776857 | DMRT1 | c.706G>T (p.Ala236Ser) n.855G>T c.232G>T (p.Ala78Ser) c.754G>T (p.Ala252Ser) c.587-22684G>T (n.587-22684G>T) c.539-22684G>T (n.539-22684G>T) c.160G>T (p.Ala54Ser) | |
9 | g.894080C>A | CA372776859 | DMRT1 | c.707C>A (p.Ala236Asp) n.856C>A c.233C>A (p.Ala78Asp) c.755C>A (p.Ala252Asp) c.587-22683C>A (n.587-22683C>A) c.539-22683C>A (n.539-22683C>A) c.161C>A (p.Ala54Asp) | |
9 | g.894080C= | CA1827190781 | DMRT1 | c.707C= (p.Ala236=) n.856C= c.233C= (p.Ala78=) c.755C= (p.Ala252=) c.587-22683C= (n.587-22683C=) c.539-22683C= (n.539-22683C=) c.161C= (p.Ala54=) | |
9 | g.894080C>G | CA372776860 | DMRT1 | c.707C>G (p.Ala236Gly) n.856C>G c.233C>G (p.Ala78Gly) c.755C>G (p.Ala252Gly) c.587-22683C>G (n.587-22683C>G) c.539-22683C>G (n.539-22683C>G) c.161C>G (p.Ala54Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894080C>T | CA372776862 | DMRT1 | c.707C>T (p.Ala236Val) n.856C>T c.233C>T (p.Ala78Val) c.755C>T (p.Ala252Val) c.587-22683C>T (n.587-22683C>T) c.539-22683C>T (n.539-22683C>T) c.161C>T (p.Ala54Val) | gnomAD v4 |
9 | g.894081T>A | CA463850374 | DMRT1 | c.708T>A (p.Ala236=) n.857T>A c.234T>A (p.Ala78=) c.756T>A (p.Ala252=) c.587-22682T>A (n.587-22682T>A) c.539-22682T>A (n.539-22682T>A) c.162T>A (p.Ala54=) | |
9 | g.894081T>C | CA463850376 | DMRT1 | c.708T>C (p.Ala236=) n.857T>C c.234T>C (p.Ala78=) c.756T>C (p.Ala252=) c.587-22682T>C (n.587-22682T>C) c.539-22682T>C (n.539-22682T>C) c.162T>C (p.Ala54=) | |
9 | g.894081T>G | CA463850375 | DMRT1 | c.708T>G (p.Ala236=) n.857T>G c.234T>G (p.Ala78=) c.756T>G (p.Ala252=) c.587-22682T>G (n.587-22682T>G) c.539-22682T>G (n.539-22682T>G) c.162T>G (p.Ala54=) | |
9 | g.894082G>A | CA372776864 | DMRT1 | c.709G>A (p.Ala237Thr) n.858G>A c.235G>A (p.Ala79Thr) c.757G>A (p.Ala253Thr) c.587-22681G>A (n.587-22681G>A) c.539-22681G>A (n.539-22681G>A) c.163G>A (p.Ala55Thr) | dbSNP gnomAD v4 |
9 | g.894082G>C | CA372776866 | DMRT1 | c.709G>C (p.Ala237Pro) n.858G>C c.235G>C (p.Ala79Pro) c.757G>C (p.Ala253Pro) c.587-22681G>C (n.587-22681G>C) c.539-22681G>C (n.539-22681G>C) c.163G>C (p.Ala55Pro) | |
9 | g.894082G= | CA1827190783 | DMRT1 | c.709G= (p.Ala237=) n.858G= c.235G= (p.Ala79=) c.757G= (p.Ala253=) c.587-22681G= (n.587-22681G=) c.539-22681G= (n.539-22681G=) c.163G= (p.Ala55=) | |
9 | g.894082G>T | CA372776867 | DMRT1 | c.709G>T (p.Ala237Ser) n.858G>T c.235G>T (p.Ala79Ser) c.757G>T (p.Ala253Ser) c.587-22681G>T (n.587-22681G>T) c.539-22681G>T (n.539-22681G>T) c.163G>T (p.Ala55Ser) | |
9 | g.894083C>A | CA372776871 | DMRT1 | c.710C>A (p.Ala237Asp) n.859C>A c.236C>A (p.Ala79Asp) c.758C>A (p.Ala253Asp) c.587-22680C>A (n.587-22680C>A) c.539-22680C>A (n.539-22680C>A) c.164C>A (p.Ala55Asp) | |
9 | g.894083C>G | CA372776869 | DMRT1 | c.710C>G (p.Ala237Gly) n.859C>G c.236C>G (p.Ala79Gly) c.758C>G (p.Ala253Gly) c.587-22680C>G (n.587-22680C>G) c.539-22680C>G (n.539-22680C>G) c.164C>G (p.Ala55Gly) | gnomAD v4 |
9 | g.894083C>T | CA372776868 | DMRT1 | c.710C>T (p.Ala237Val) n.859C>T c.236C>T (p.Ala79Val) c.758C>T (p.Ala253Val) c.587-22680C>T (n.587-22680C>T) c.539-22680C>T (n.539-22680C>T) c.164C>T (p.Ala55Val) | |
9 | g.894084T>A | CA463850378 | DMRT1 | c.711T>A (p.Ala237=) n.860T>A c.237T>A (p.Ala79=) c.759T>A (p.Ala253=) c.587-22679T>A (n.587-22679T>A) c.539-22679T>A (n.539-22679T>A) c.165T>A (p.Ala55=) | |
9 | g.894084T>C | CA463850379 | DMRT1 | c.711T>C (p.Ala237=) n.860T>C c.237T>C (p.Ala79=) c.759T>C (p.Ala253=) c.587-22679T>C (n.587-22679T>C) c.539-22679T>C (n.539-22679T>C) c.165T>C (p.Ala55=) | |
9 | g.894084T>G | CA4961626 | DMRT1 | c.711T>G (p.Ala237=) n.860T>G c.237T>G (p.Ala79=) c.759T>G (p.Ala253=) c.587-22679T>G (n.587-22679T>G) c.539-22679T>G (n.539-22679T>G) c.165T>G (p.Ala55=) | dbSNP ExAC gnomAD v2 |
9 | g.894084T= | CA1827190785 | DMRT1 | c.711T= (p.Ala237=) n.860T= c.237T= (p.Ala79=) c.759T= (p.Ala253=) c.587-22679T= (n.587-22679T=) c.539-22679T= (n.539-22679T=) c.165T= (p.Ala55=) | |
9 | g.894085G>A | CA372776873 | DMRT1 | c.712G>A (p.Asp238Asn) n.861G>A c.238G>A (p.Asp80Asn) c.760G>A (p.Asp254Asn) c.587-22678G>A (n.587-22678G>A) c.539-22678G>A (n.539-22678G>A) c.166G>A (p.Asp56Asn) | |
9 | g.894085G>C | CA372776874 | DMRT1 | c.712G>C (p.Asp238His) n.861G>C c.238G>C (p.Asp80His) c.760G>C (p.Asp254His) c.587-22678G>C (n.587-22678G>C) c.539-22678G>C (n.539-22678G>C) c.166G>C (p.Asp56His) | |
9 | g.894085G>T | CA372776875 | DMRT1 | c.712G>T (p.Asp238Tyr) n.861G>T c.238G>T (p.Asp80Tyr) c.760G>T (p.Asp254Tyr) c.587-22678G>T (n.587-22678G>T) c.539-22678G>T (n.539-22678G>T) c.166G>T (p.Asp56Tyr) | |
9 | g.894086A>C | CA372776878 | DMRT1 | c.713A>C (p.Asp238Ala) n.862A>C c.239A>C (p.Asp80Ala) c.761A>C (p.Asp254Ala) c.587-22677A>C (n.587-22677A>C) c.539-22677A>C (n.539-22677A>C) c.167A>C (p.Asp56Ala) | |
9 | g.894086A>G | CA372776879 | DMRT1 | c.713A>G (p.Asp238Gly) n.862A>G c.239A>G (p.Asp80Gly) c.761A>G (p.Asp254Gly) c.587-22677A>G (n.587-22677A>G) c.539-22677A>G (n.539-22677A>G) c.167A>G (p.Asp56Gly) | gnomAD v4 |
9 | g.894086A>T | CA372776881 | DMRT1 | c.713A>T (p.Asp238Val) n.862A>T c.239A>T (p.Asp80Val) c.761A>T (p.Asp254Val) c.587-22677A>T (n.587-22677A>T) c.539-22677A>T (n.539-22677A>T) c.167A>T (p.Asp56Val) | |
9 | g.894087T>A | CA372776882 | DMRT1 | c.714T>A (p.Asp238Glu) n.863T>A c.240T>A (p.Asp80Glu) c.762T>A (p.Asp254Glu) c.587-22676T>A (n.587-22676T>A) c.539-22676T>A (n.539-22676T>A) c.168T>A (p.Asp56Glu) | |
9 | g.894087T>C | CA463850382 | DMRT1 | c.714T>C (p.Asp238=) n.863T>C c.240T>C (p.Asp80=) c.762T>C (p.Asp254=) c.587-22676T>C (n.587-22676T>C) c.539-22676T>C (n.539-22676T>C) c.168T>C (p.Asp56=) | |
9 | g.894087T>G | CA372776883 | DMRT1 | c.714T>G (p.Asp238Glu) n.863T>G c.240T>G (p.Asp80Glu) c.762T>G (p.Asp254Glu) c.587-22676T>G (n.587-22676T>G) c.539-22676T>G (n.539-22676T>G) c.168T>G (p.Asp56Glu) | |
9 | g.894088T>A | CA372776885 | DMRT1 | c.715T>A (p.Ser239Thr) n.864T>A c.241T>A (p.Ser81Thr) c.763T>A (p.Ser255Thr) c.587-22675T>A (n.587-22675T>A) c.539-22675T>A (n.539-22675T>A) c.169T>A (p.Ser57Thr) | |
9 | g.894088T>C | CA372776887 | DMRT1 | c.715T>C (p.Ser239Pro) n.864T>C c.241T>C (p.Ser81Pro) c.763T>C (p.Ser255Pro) c.587-22675T>C (n.587-22675T>C) c.539-22675T>C (n.539-22675T>C) c.169T>C (p.Ser57Pro) | |
9 | g.894088T>G | CA372776889 | DMRT1 | c.715T>G (p.Ser239Ala) n.864T>G c.241T>G (p.Ser81Ala) c.763T>G (p.Ser255Ala) c.587-22675T>G (n.587-22675T>G) c.539-22675T>G (n.539-22675T>G) c.169T>G (p.Ser57Ala) | |
9 | g.894089C>A | CA372776893 | DMRT1 | c.716C>A (p.Ser239Tyr) n.865C>A c.242C>A (p.Ser81Tyr) c.764C>A (p.Ser255Tyr) c.587-22674C>A (n.587-22674C>A) c.539-22674C>A (n.539-22674C>A) c.170C>A (p.Ser57Tyr) | |
9 | g.894089C= | CA1827190789 | DMRT1 | c.716C= (p.Ser239=) n.865C= c.242C= (p.Ser81=) c.764C= (p.Ser255=) c.587-22674C= (n.587-22674C=) c.539-22674C= (n.539-22674C=) c.170C= (p.Ser57=) | |
9 | g.894089C>G | CA372776892 | DMRT1 | c.716C>G (p.Ser239Cys) n.865C>G c.242C>G (p.Ser81Cys) c.764C>G (p.Ser255Cys) c.587-22674C>G (n.587-22674C>G) c.539-22674C>G (n.539-22674C>G) c.170C>G (p.Ser57Cys) | |
9 | g.894089C>T | CA187864981 | DMRT1 | c.716C>T (p.Ser239Phe) n.865C>T c.242C>T (p.Ser81Phe) c.764C>T (p.Ser255Phe) c.587-22674C>T (n.587-22674C>T) c.539-22674C>T (n.539-22674C>T) c.170C>T (p.Ser57Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894090T>A | CA463850389 | DMRT1 | c.717T>A (p.Ser239=) n.866T>A c.243T>A (p.Ser81=) c.765T>A (p.Ser255=) c.587-22673T>A (n.587-22673T>A) c.539-22673T>A (n.539-22673T>A) c.171T>A (p.Ser57=) | |
9 | g.894090T>C | CA4961628 | DMRT1 | c.717T>C (p.Ser239=) n.866T>C c.243T>C (p.Ser81=) c.765T>C (p.Ser255=) c.587-22673T>C (n.587-22673T>C) c.539-22673T>C (n.539-22673T>C) c.171T>C (p.Ser57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894090T>G | CA4961627 | DMRT1 | c.717T>G (p.Ser239=) n.866T>G c.243T>G (p.Ser81=) c.765T>G (p.Ser255=) c.587-22673T>G (n.587-22673T>G) c.539-22673T>G (n.539-22673T>G) c.171T>G (p.Ser57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.894090T= | CA1827190791 | DMRT1 | c.717T= (p.Ser239=) n.866T= c.243T= (p.Ser81=) c.765T= (p.Ser255=) c.587-22673T= (n.587-22673T=) c.539-22673T= (n.539-22673T=) c.171T= (p.Ser57=) | |
9 | g.894091G>A | CA372776896 | DMRT1 | c.718G>A (p.Ala240Thr) n.867G>A c.244G>A (p.Ala82Thr) c.766G>A (p.Ala256Thr) c.587-22672G>A (n.587-22672G>A) c.539-22672G>A (n.539-22672G>A) c.172G>A (p.Ala58Thr) | |
9 | g.894091G>C | CA4961629 | DMRT1 | c.718G>C (p.Ala240Pro) n.867G>C c.244G>C (p.Ala82Pro) c.766G>C (p.Ala256Pro) c.587-22672G>C (n.587-22672G>C) c.539-22672G>C (n.539-22672G>C) c.172G>C (p.Ala58Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894091G= | CA1827190794 | DMRT1 | c.718G= (p.Ala240=) n.867G= c.244G= (p.Ala82=) c.766G= (p.Ala256=) c.587-22672G= (n.587-22672G=) c.539-22672G= (n.539-22672G=) c.172G= (p.Ala58=) | |
9 | g.894091G>T | CA372776898 | DMRT1 | c.718G>T (p.Ala240Ser) n.867G>T c.244G>T (p.Ala82Ser) c.766G>T (p.Ala256Ser) c.587-22672G>T (n.587-22672G>T) c.539-22672G>T (n.539-22672G>T) c.172G>T (p.Ala58Ser) | |
9 | g.894092C>A | CA372776903 | DMRT1 | c.719C>A (p.Ala240Asp) n.868C>A c.245C>A (p.Ala82Asp) c.767C>A (p.Ala256Asp) c.587-22671C>A (n.587-22671C>A) c.539-22671C>A (n.539-22671C>A) c.173C>A (p.Ala58Asp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894092C= | CA1827190798 | DMRT1 | c.719C= (p.Ala240=) n.868C= c.245C= (p.Ala82=) c.767C= (p.Ala256=) c.587-22671C= (n.587-22671C=) c.539-22671C= (n.539-22671C=) c.173C= (p.Ala58=) | |
9 | g.894092C>G | CA372776902 | DMRT1 | c.719C>G (p.Ala240Gly) n.868C>G c.245C>G (p.Ala82Gly) c.767C>G (p.Ala256Gly) c.587-22671C>G (n.587-22671C>G) c.539-22671C>G (n.539-22671C>G) c.173C>G (p.Ala58Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894092C>T | CA372776900 | DMRT1 | c.719C>T (p.Ala240Val) n.868C>T c.245C>T (p.Ala82Val) c.767C>T (p.Ala256Val) c.587-22671C>T (n.587-22671C>T) c.539-22671C>T (n.539-22671C>T) c.173C>T (p.Ala58Val) | gnomAD v4 |
9 | g.894093T>A | CA463850395 | DMRT1 | c.720T>A (p.Ala240=) n.869T>A c.246T>A (p.Ala82=) c.768T>A (p.Ala256=) c.587-22670T>A (n.587-22670T>A) c.539-22670T>A (n.539-22670T>A) c.174T>A (p.Ala58=) | |
9 | g.894093T>C | CA463850396 | DMRT1 | c.720T>C (p.Ala240=) n.869T>C c.246T>C (p.Ala82=) c.768T>C (p.Ala256=) c.587-22670T>C (n.587-22670T>C) c.539-22670T>C (n.539-22670T>C) c.174T>C (p.Ala58=) | gnomAD v4 |
9 | g.894093T>G | CA463850398 | DMRT1 | c.720T>G (p.Ala240=) n.869T>G c.246T>G (p.Ala82=) c.768T>G (p.Ala256=) c.587-22670T>G (n.587-22670T>G) c.539-22670T>G (n.539-22670T>G) c.174T>G (p.Ala58=) | |
9 | g.894094T>A | CA372776905 | DMRT1 | c.721T>A (p.Ser241Thr) n.870T>A c.247T>A (p.Ser83Thr) c.769T>A (p.Ser257Thr) c.587-22669T>A (n.587-22669T>A) c.539-22669T>A (n.539-22669T>A) c.175T>A (p.Ser59Thr) | |
9 | g.894094T>C | CA372776906 | DMRT1 | c.721T>C (p.Ser241Pro) n.870T>C c.247T>C (p.Ser83Pro) c.769T>C (p.Ser257Pro) c.587-22669T>C (n.587-22669T>C) c.539-22669T>C (n.539-22669T>C) c.175T>C (p.Ser59Pro) | |
9 | g.894094T>G | CA372776907 | DMRT1 | c.721T>G (p.Ser241Ala) n.870T>G c.247T>G (p.Ser83Ala) c.769T>G (p.Ser257Ala) c.587-22669T>G (n.587-22669T>G) c.539-22669T>G (n.539-22669T>G) c.175T>G (p.Ser59Ala) | |
9 | g.894095C>A | CA187864988 | DMRT1 | c.722C>A (p.Ser241Tyr) n.871C>A c.248C>A (p.Ser83Tyr) c.770C>A (p.Ser257Tyr) c.587-22668C>A (n.587-22668C>A) c.539-22668C>A (n.539-22668C>A) c.176C>A (p.Ser59Tyr) | dbSNP |
9 | g.894095C= | CA1827190801 | DMRT1 | c.722C= (p.Ser241=) n.871C= c.248C= (p.Ser83=) c.770C= (p.Ser257=) c.587-22668C= (n.587-22668C=) c.539-22668C= (n.539-22668C=) c.176C= (p.Ser59=) | |
9 | g.894095C>G | CA372776910 | DMRT1 | c.722C>G (p.Ser241Cys) n.871C>G c.248C>G (p.Ser83Cys) c.770C>G (p.Ser257Cys) c.587-22668C>G (n.587-22668C>G) c.539-22668C>G (n.539-22668C>G) c.176C>G (p.Ser59Cys) | dbSNP |
9 | g.894095C>T | CA372776911 | DMRT1 | c.722C>T (p.Ser241Phe) n.871C>T c.248C>T (p.Ser83Phe) c.770C>T (p.Ser257Phe) c.587-22668C>T (n.587-22668C>T) c.539-22668C>T (n.539-22668C>T) c.176C>T (p.Ser59Phe) | |
9 | g.894096T>A | CA463850403 | DMRT1 | c.723T>A (p.Ser241=) n.872T>A c.249T>A (p.Ser83=) c.771T>A (p.Ser257=) c.587-22667T>A (n.587-22667T>A) c.539-22667T>A (n.539-22667T>A) c.177T>A (p.Ser59=) | |
9 | g.894096T>C | CA463850406 | DMRT1 | c.723T>C (p.Ser241=) n.872T>C c.249T>C (p.Ser83=) c.771T>C (p.Ser257=) c.587-22667T>C (n.587-22667T>C) c.539-22667T>C (n.539-22667T>C) c.177T>C (p.Ser59=) | |
9 | g.894096T>G | CA463850405 | DMRT1 | c.723T>G (p.Ser241=) n.872T>G c.249T>G (p.Ser83=) c.771T>G (p.Ser257=) c.587-22667T>G (n.587-22667T>G) c.539-22667T>G (n.539-22667T>G) c.177T>G (p.Ser59=) | |
9 | g.894097G>A | CA372776913 | DMRT1 | c.724G>A (p.Gly242Arg) n.873G>A c.250G>A (p.Gly84Arg) c.772G>A (p.Gly258Arg) c.587-22666G>A (n.587-22666G>A) c.539-22666G>A (n.539-22666G>A) c.178G>A (p.Gly60Arg) | |
9 | g.894097G>C | CA372776916 | DMRT1 | c.724G>C (p.Gly242Arg) n.873G>C c.250G>C (p.Gly84Arg) c.772G>C (p.Gly258Arg) c.587-22666G>C (n.587-22666G>C) c.539-22666G>C (n.539-22666G>C) c.178G>C (p.Gly60Arg) | |
9 | g.894097G= | CA1827190803 | DMRT1 | c.724G= (p.Gly242=) n.873G= c.250G= (p.Gly84=) c.772G= (p.Gly258=) c.587-22666G= (n.587-22666G=) c.539-22666G= (n.539-22666G=) c.178G= (p.Gly60=) | |
9 | g.894097G>T | CA372776914 | DMRT1 | c.724G>T (p.Gly242Trp) n.873G>T c.250G>T (p.Gly84Trp) c.772G>T (p.Gly258Trp) c.587-22666G>T (n.587-22666G>T) c.539-22666G>T (n.539-22666G>T) c.178G>T (p.Gly60Trp) | dbSNP |
9 | g.894098G>A | CA372776918 | DMRT1 | c.725G>A (p.Gly242Glu) n.874G>A c.251G>A (p.Gly84Glu) c.773G>A (p.Gly258Glu) c.587-22665G>A (n.587-22665G>A) c.539-22665G>A (n.539-22665G>A) c.179G>A (p.Gly60Glu) | |
9 | g.894098G>C | CA372776919 | DMRT1 | c.725G>C (p.Gly242Ala) n.874G>C c.251G>C (p.Gly84Ala) c.773G>C (p.Gly258Ala) c.587-22665G>C (n.587-22665G>C) c.539-22665G>C (n.539-22665G>C) c.179G>C (p.Gly60Ala) | gnomAD v4 |
9 | g.894098G>T | CA372776920 | DMRT1 | c.725G>T (p.Gly242Val) n.874G>T c.251G>T (p.Gly84Val) c.773G>T (p.Gly258Val) c.587-22665G>T (n.587-22665G>T) c.539-22665G>T (n.539-22665G>T) c.179G>T (p.Gly60Val) | |
9 | g.894099G>A | CA463850412 | DMRT1 | c.726G>A (p.Gly242=) n.875G>A c.252G>A (p.Gly84=) c.774G>A (p.Gly258=) c.587-22664G>A (n.587-22664G>A) c.539-22664G>A (n.539-22664G>A) c.180G>A (p.Gly60=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894099G>C | CA463850413 | DMRT1 | c.726G>C (p.Gly242=) n.875G>C c.252G>C (p.Gly84=) c.774G>C (p.Gly258=) c.587-22664G>C (n.587-22664G>C) c.539-22664G>C (n.539-22664G>C) c.180G>C (p.Gly60=) | |
9 | g.894099G= | CA1827190806 | DMRT1 | c.726G= (p.Gly242=) n.875G= c.252G= (p.Gly84=) c.774G= (p.Gly258=) c.587-22664G= (n.587-22664G=) c.539-22664G= (n.539-22664G=) c.180G= (p.Gly60=) | |
9 | g.894099G>T | CA463850414 | DMRT1 | c.726G>T (p.Gly242=) n.875G>T c.252G>T (p.Gly84=) c.774G>T (p.Gly258=) c.587-22664G>T (n.587-22664G>T) c.539-22664G>T (n.539-22664G>T) c.180G>T (p.Gly60=) | |
9 | g.894100G>A | CA4961630 | DMRT1 | c.727G>A (p.Glu243Lys) n.876G>A c.253G>A (p.Glu85Lys) c.775G>A (p.Glu259Lys) c.587-22663G>A (n.587-22663G>A) c.539-22663G>A (n.539-22663G>A) c.181G>A (p.Glu61Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894100G>C | CA372776922 | DMRT1 | c.727G>C (p.Glu243Gln) n.876G>C c.253G>C (p.Glu85Gln) c.775G>C (p.Glu259Gln) c.587-22663G>C (n.587-22663G>C) c.539-22663G>C (n.539-22663G>C) c.181G>C (p.Glu61Gln) | |
9 | g.894100G= | CA1827190808 | DMRT1 | c.727G= (p.Glu243=) n.876G= c.253G= (p.Glu85=) c.775G= (p.Glu259=) c.587-22663G= (n.587-22663G=) c.539-22663G= (n.539-22663G=) c.181G= (p.Glu61=) | |
9 | g.894100G>T | CA372776924 | DMRT1 | c.727G>T (p.Glu243Ter) n.876G>T c.253G>T (p.Glu85Ter) c.775G>T (p.Glu259Ter) c.587-22663G>T (n.587-22663G>T) c.539-22663G>T (n.539-22663G>T) c.181G>T (p.Glu61Ter) | |
9 | g.894101A>C | CA372776926 | DMRT1 | c.728A>C (p.Glu243Ala) n.877A>C c.254A>C (p.Glu85Ala) c.776A>C (p.Glu259Ala) c.587-22662A>C (n.587-22662A>C) c.539-22662A>C (n.539-22662A>C) c.182A>C (p.Glu61Ala) | |
9 | g.894101A>G | CA372776927 | DMRT1 | c.728A>G (p.Glu243Gly) n.877A>G c.254A>G (p.Glu85Gly) c.776A>G (p.Glu259Gly) c.587-22662A>G (n.587-22662A>G) c.539-22662A>G (n.539-22662A>G) c.182A>G (p.Glu61Gly) | |
9 | g.894101A>T | CA372776928 | DMRT1 | c.728A>T (p.Glu243Val) n.877A>T c.254A>T (p.Glu85Val) c.776A>T (p.Glu259Val) c.587-22662A>T (n.587-22662A>T) c.539-22662A>T (n.539-22662A>T) c.182A>T (p.Glu61Val) | |
9 | g.894102G>A | CA463850417 | DMRT1 | c.729G>A (p.Glu243=) n.878G>A c.255G>A (p.Glu85=) c.777G>A (p.Glu259=) c.587-22661G>A (n.587-22661G>A) c.539-22661G>A (n.539-22661G>A) c.183G>A (p.Glu61=) | dbSNP gnomAD v4 |
9 | g.894102G>C | CA372776930 | DMRT1 | c.729G>C (p.Glu243Asp) n.878G>C c.255G>C (p.Glu85Asp) c.777G>C (p.Glu259Asp) c.587-22661G>C (n.587-22661G>C) c.539-22661G>C (n.539-22661G>C) c.183G>C (p.Glu61Asp) | |
9 | g.894102G= | CA1827190811 | DMRT1 | c.729G= (p.Glu243=) n.878G= c.255G= (p.Glu85=) c.777G= (p.Glu259=) c.587-22661G= (n.587-22661G=) c.539-22661G= (n.539-22661G=) c.183G= (p.Glu61=) | |
9 | g.894102G>T | CA372776932 | DMRT1 | c.729G>T (p.Glu243Asp) n.878G>T c.255G>T (p.Glu85Asp) c.777G>T (p.Glu259Asp) c.587-22661G>T (n.587-22661G>T) c.539-22661G>T (n.539-22661G>T) c.183G>T (p.Glu61Asp) | |
9 | g.894103G>A | CA4961632 | DMRT1 | c.730G>A (p.Val244Met) n.879G>A c.256G>A (p.Val86Met) c.778G>A (p.Val260Met) c.587-22660G>A (n.587-22660G>A) c.539-22660G>A (n.539-22660G>A) c.184G>A (p.Val62Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.894103G>C | CA4961631 | DMRT1 | c.730G>C (p.Val244Leu) n.879G>C c.256G>C (p.Val86Leu) c.778G>C (p.Val260Leu) c.587-22660G>C (n.587-22660G>C) c.539-22660G>C (n.539-22660G>C) c.184G>C (p.Val62Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894103G= | CA1827190813 | DMRT1 | c.730G= (p.Val244=) n.879G= c.256G= (p.Val86=) c.778G= (p.Val260=) c.587-22660G= (n.587-22660G=) c.539-22660G= (n.539-22660G=) c.184G= (p.Val62=) | |
9 | g.894103G>T | CA372776933 | DMRT1 | c.730G>T (p.Val244Leu) n.879G>T c.256G>T (p.Val86Leu) c.778G>T (p.Val260Leu) c.587-22660G>T (n.587-22660G>T) c.539-22660G>T (n.539-22660G>T) c.184G>T (p.Val62Leu) | |
9 | g.894104T>A | CA372776934 | DMRT1 | c.731T>A (p.Val244Glu) n.880T>A c.257T>A (p.Val86Glu) c.779T>A (p.Val260Glu) c.587-22659T>A (n.587-22659T>A) c.539-22659T>A (n.539-22659T>A) c.185T>A (p.Val62Glu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.894104T>C | CA372776937 | DMRT1 | c.731T>C (p.Val244Ala) n.880T>C c.257T>C (p.Val86Ala) c.779T>C (p.Val260Ala) c.587-22659T>C (n.587-22659T>C) c.539-22659T>C (n.539-22659T>C) c.185T>C (p.Val62Ala) | |
9 | g.894104T>G | CA372776936 | DMRT1 | c.731T>G (p.Val244Gly) n.880T>G c.257T>G (p.Val86Gly) c.779T>G (p.Val260Gly) c.587-22659T>G (n.587-22659T>G) c.539-22659T>G (n.539-22659T>G) c.185T>G (p.Val62Gly) | dbSNP |
9 | g.894104T= | CA1827190816 | DMRT1 | c.731T= (p.Val244=) n.880T= c.257T= (p.Val86=) c.779T= (p.Val260=) c.587-22659T= (n.587-22659T=) c.539-22659T= (n.539-22659T=) c.185T= (p.Val62=) | |
9 | g.894105G>A | CA463850426 | DMRT1 | c.732G>A (p.Val244=) n.881G>A c.258G>A (p.Val86=) c.780G>A (p.Val260=) c.587-22658G>A (n.587-22658G>A) c.539-22658G>A (n.539-22658G>A) c.186G>A (p.Val62=) | |
9 | g.894105G>C | CA463850427 | DMRT1 | c.732G>C (p.Val244=) n.881G>C c.258G>C (p.Val86=) c.780G>C (p.Val260=) c.587-22658G>C (n.587-22658G>C) c.539-22658G>C (n.539-22658G>C) c.186G>C (p.Val62=) | gnomAD v4 |
9 | g.894105G>T | CA463850428 | DMRT1 | c.732G>T (p.Val244=) n.881G>T c.258G>T (p.Val86=) c.780G>T (p.Val260=) c.587-22658G>T (n.587-22658G>T) c.539-22658G>T (n.539-22658G>T) c.186G>T (p.Val62=) |