Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.894005G>ACA372776587DMRT1c.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)
9g.894005G>CCA372776589DMRT1c.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)
9g.894005G>TCA372776590DMRT1c.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)
9g.894006C>ACA372776592DMRT1c.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
9g.894006C=CA1827190674DMRT1c.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=)
9g.894006C>GCA372776594DMRT1c.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)
9g.894006C>TCA463850327DMRT1c.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
9g.894007A>CCA372776598DMRT1c.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)
9g.894007A>GCA372776597DMRT1c.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)
9g.894007A>TCA372776596DMRT1c.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)
9g.894008G>ACA372776601DMRT1c.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)
9g.894008G>CCA372776602DMRT1c.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
9g.894008G>TCA372776603DMRT1c.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)
9g.894009C>ACA372776604DMRT1c.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)
9g.894009C>GCA372776605DMRT1c.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)
9g.894009C>TCA463850328DMRT1c.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=)
9g.894010T>ACA372776607DMRT1c.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)
9g.894010T>CCA372776609DMRT1c.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
9g.894010T>GCA372776611DMRT1c.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)
9g.894011T>ACA372776615DMRT1c.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)
9g.894011T>CCA372776616DMRT1c.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)
9g.894011T>GCA372776617DMRT1c.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)
9g.894012C>ACA372776619DMRT1c.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)
9g.894012C=CA1827190676DMRT1c.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=)
9g.894012C>GCA4961614DMRT1c.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
9g.894012C>TCA463850329DMRT1c.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=)
9g.894013T>ACA372776622DMRT1c.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)
9g.894013T>CCA372776624DMRT1c.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)
9g.894013T>GCA372776621DMRT1c.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)
9g.894014A>CCA372776625DMRT1c.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)
9g.894014A>GCA372776627DMRT1c.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
9g.894014A>TCA372776628DMRT1c.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)
9g.894015C>ACA372776629DMRT1c.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)
9g.894015C>GCA372776632DMRT1c.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)
9g.894015C>TCA463850330DMRT1c.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
9g.894016C>ACA372776633DMRT1c.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)
9g.894016C>GCA372776635DMRT1c.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)
9g.894016C>TCA372776636DMRT1c.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)
9g.894017A>CCA372776637DMRT1c.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)
9g.894017A>GCA372776639DMRT1c.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)
9g.894017A>TCA372776641DMRT1c.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)
9g.894018G>ACA463850331DMRT1c.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
9g.894018G>CCA372776643DMRT1c.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)
9g.894018G=CA1827190679DMRT1c.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=)
9g.894018G>TCA372776644DMRT1c.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
9g.894019C>ACA372776646DMRT1c.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
9g.894019C=CA1827190684DMRT1c.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=)
9g.894019C>GCA372776651DMRT1c.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)
9g.894019C>TCA4961615DMRT1c.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
9g.894020dupCA586167797DMRT1c.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
9g.894020C>ACA372776653DMRT1c.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
9g.894020C=CA1827190688DMRT1c.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=)
9g.894020C>GCA372776656DMRT1c.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)
9g.894020C>TCA372776657DMRT1c.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
9g.894021G>ACA4961616DMRT1c.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
9g.894021G>CCA463850332DMRT1c.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
9g.894021G=CA1827190694DMRT1c.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=)
9g.894021G>TCA187864919DMRT1c.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
9g.894021_894023delinsGTCCA1827190692DMRT1c.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=)
9g.894022T>ACA372776660DMRT1c.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)
9g.894022T>CCA372776662DMRT1c.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)
9g.894022T>GCA372776663DMRT1c.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)
9g.894025_894026delCA1827190696DMRT1c.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
9g.894023C>ACA372776664DMRT1c.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)
9g.894023C>GCA372776665DMRT1c.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)
9g.894023C>TCA372776667DMRT1c.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)
9g.894023_894024insCAGCA2579288532DMRT1c.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)
9g.894024T>ACA463850333DMRT1c.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=)
9g.894024T>CCA463850334DMRT1c.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=)
9g.894024T>GCA463850335DMRT1c.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=)
9g.894025C>ACA372776668DMRT1c.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)
9g.894025C=CA1827190698DMRT1c.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=)
9g.894025C>GCA372776670DMRT1c.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
9g.894025C>TCA463850336DMRT1c.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
9g.894026T>ACA372776671DMRT1c.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)
9g.894026T>CCA372776673DMRT1c.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
9g.894026T>GCA372776675DMRT1c.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)
9g.894027G>ACA4961617DMRT1c.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
9g.894027G>CCA463850337DMRT1c.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
9g.894027G=CA1827190700DMRT1c.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=)
9g.894027G>TCA463850338DMRT1c.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
9g.894028T>ACA372776677DMRT1c.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)
9g.894028T>CCA372776678DMRT1c.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)
9g.894028T>GCA372776680DMRT1c.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)
9g.894029T>ACA372776686DMRT1c.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)
9g.894029T>CCA372776682DMRT1c.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)
9g.894029T>GCA372776684DMRT1c.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)
9g.894030T>ACA372776687DMRT1c.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)
9g.894030T>CCA463850339DMRT1c.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
9g.894030T>GCA372776689DMRT1c.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)
9g.894030T=CA1827190702DMRT1c.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=)
9g.894031C>ACA372776691DMRT1c.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
9g.894031C=CA1827190704DMRT1c.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=)
9g.894031C>GCA372776693DMRT1c.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
9g.894031C>TCA372776694DMRT1c.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
9g.894032C>ACA372776695DMRT1c.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)
9g.894032C>GCA372776697DMRT1c.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)
9g.894032C>TCA372776696DMRT1c.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)
9g.894033T>ACA463850341DMRT1c.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=)
9g.894033T>CCA463850342DMRT1c.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
9g.894033T>GCA463850340DMRT1c.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=)
9g.894033T=CA1827190706DMRT1c.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=)
9g.894034T>ACA372776698DMRT1c.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)
9g.894034T>CCA372776699DMRT1c.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)
9g.894034T>GCA372776700DMRT1c.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)
9g.894035A=CA1827190710DMRT1c.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=)
9g.894035A>CCA372776701DMRT1c.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)
9g.894035A>GCA372776703DMRT1c.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
9g.894035A>TCA372776704DMRT1c.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)
9g.894036T>ACA372776706DMRT1c.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)
9g.894036T>CCA4961618DMRT1c.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
9g.894036T>GCA372776707DMRT1c.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)
9g.894036T=CA1827190713DMRT1c.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=)
9g.894037T>ACA372776710DMRT1c.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)
9g.894037T>CCA372776711DMRT1c.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
9g.894037T>GCA372776713DMRT1c.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)
9g.894038A>CCA372776714DMRT1c.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)
9g.894038A>GCA372776716DMRT1c.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)
9g.894038A>TCA372776715DMRT1c.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)
9g.894039C>ACA372776717DMRT1c.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)
9g.894039C>GCA372776719DMRT1c.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)
9g.894039C>TCA463850343DMRT1c.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=)
9g.894040A>CCA372776720DMRT1c.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)
9g.894040A>GCA372776722DMRT1c.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)
9g.894040A>TCA372776723DMRT1c.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)
9g.894041A=CA1827190715DMRT1c.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=)
9g.894041A>CCA372776725DMRT1c.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)
9g.894041A>GCA187864928DMRT1c.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
9g.894041A>TCA372776727DMRT1c.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)
9g.894042C>ACA372776729DMRT1c.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
9g.894042C>GCA372776730DMRT1c.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)
9g.894042C>TCA463850344DMRT1c.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=)
9g.894043A>CCA372776732DMRT1c.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)
9g.894043A>GCA372776733DMRT1c.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
9g.894043A>TCA372776734DMRT1c.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)
9g.894044A=CA1827190727DMRT1c.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=)
9g.894044A>CCA372776735DMRT1c.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
9g.894044A>GCA4961619DMRT1c.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
9g.894044A>TCA372776736DMRT1c.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)
9g.894045T>ACA372776737DMRT1c.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)
9g.894045T>CCA463850345DMRT1c.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
9g.894045T>GCA372776738DMRT1c.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)
9g.894046C>ACA372776739DMRT1c.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)
9g.894046C=CA1827190730DMRT1c.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=)
9g.894046C>GCA372776740DMRT1c.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
9g.894046C>TCA463850346DMRT1c.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=)
9g.894047T>ACA372776742DMRT1c.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)
9g.894047T>CCA372776743DMRT1c.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)
9g.894047T>GCA372776744DMRT1c.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)
9g.894048A=CA1827190732DMRT1c.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=)
9g.894048A>CCA4961620DMRT1c.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
9g.894048A>GCA187864940DMRT1c.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
9g.894048A>TCA463850347DMRT1c.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=)
9g.894049T>ACA372776746DMRT1c.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)
9g.894049T>CCA372776748DMRT1c.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
9g.894049T>GCA372776749DMRT1c.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)
9g.894049T=CA1827190736DMRT1c.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=)
9g.894050A>CCA372776752DMRT1c.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)
9g.894050A>GCA372776754DMRT1c.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
9g.894050A>TCA372776751DMRT1c.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)
9g.894051C>ACA372776757DMRT1c.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
9g.894051C=CA1827190739DMRT1c.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=)
9g.894051C>GCA372776755DMRT1c.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)
9g.894051C>TCA463850348DMRT1c.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
9g.894052A>CCA372776761DMRT1c.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)
9g.894052A>GCA372776759DMRT1c.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)
9g.894052A>TCA372776760DMRT1c.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
9g.894053A=CA1827190742DMRT1c.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=)
9g.894053A>CCA372776763DMRT1c.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)
9g.894053A>GCA4961621DMRT1c.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
9g.894053A>TCA372776766DMRT1c.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)
9g.894054C>ACA372776767DMRT1c.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)
9g.894054C=CA1827190743DMRT1c.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=)
9g.894054C>GCA372776768DMRT1c.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)
9g.894054C>TCA463850349DMRT1c.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
9g.894055T>ACA372776773DMRT1c.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)
9g.894055T>CCA372776770DMRT1c.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
9g.894055T>GCA372776772DMRT1c.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)
9g.894056G>ACA372776775DMRT1c.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
9g.894056G>CCA372776776DMRT1c.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)
9g.894056G>TCA372776778DMRT1c.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)
9g.894057C>ACA372776780DMRT1c.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)
9g.894057C=CA1827190747DMRT1c.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=)
9g.894057C>GCA372776781DMRT1c.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)
9g.894057C>TCA187864954DMRT1c.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
9g.894058C>ACA4961622DMRT1c.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
9g.894058C=CA1827190750DMRT1c.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=)
9g.894058C>GCA372776786DMRT1c.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)
9g.894058C>TCA372776784DMRT1c.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
9g.894059C>ACA4961623DMRT1c.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
9g.894059C=CA1827190752DMRT1c.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=)
9g.894059C>GCA372776788DMRT1c.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
9g.894059C>TCA372776789DMRT1c.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)
9g.894060G>ACA4961624DMRT1c.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
9g.894060G>CCA463850350DMRT1c.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
9g.894060G=CA1827190757DMRT1c.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=)
9g.894060G>TCA463850351DMRT1c.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=)
9g.894061C>ACA372776792DMRT1c.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)
9g.894061C>GCA372776794DMRT1c.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)
9g.894061C>TCA372776796DMRT1c.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)
9g.894062A>CCA372776798DMRT1c.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)
9g.894062A>GCA372776799DMRT1c.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)
9g.894062A>TCA372776800DMRT1c.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)
9g.894063G>ACA463850352DMRT1c.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=)
9g.894063G>CCA372776801DMRT1c.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
9g.894063G=CA1827190760DMRT1c.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=)
9g.894063G>TCA372776802DMRT1c.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)
9g.894064T>ACA372776803DMRT1c.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)
9g.894064T>CCA372776805DMRT1c.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)
9g.894064T>GCA372776804DMRT1c.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)
9g.894065A>CCA372776807DMRT1c.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
9g.894065A>GCA372776808DMRT1c.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)
9g.894065A>TCA372776809DMRT1c.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)
9g.894066C>ACA372776811DMRT1c.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)
9g.894066C=CA1827190763DMRT1c.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=)
9g.894066C>GCA372776813DMRT1c.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)
9g.894066C>TCA4961625DMRT1c.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
9g.894067T>ACA372776815DMRT1c.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)
9g.894067T>CCA372776816DMRT1c.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)
9g.894067T>GCA372776817DMRT1c.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)
9g.894068C>ACA372776820DMRT1c.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)
9g.894068C>GCA372776821DMRT1c.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)
9g.894068C>TCA372776823DMRT1c.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)
9g.894069C>ACA463850356DMRT1c.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
9g.894069C=CA1827190768DMRT1c.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=)
9g.894069C>GCA463850357DMRT1c.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=)
9g.894069C>TCA463850358DMRT1c.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
9g.894070A=CA1827190769DMRT1c.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=)
9g.894070A>CCA372776827DMRT1c.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)
9g.894070A>GCA372776824DMRT1c.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
9g.894070A>TCA372776825DMRT1c.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)
9g.894071T>ACA187864973DMRT1c.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
9g.894071T>CCA372776829DMRT1c.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)
9g.894071T>GCA372776831DMRT1c.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)
9g.894071T=CA1827190771DMRT1c.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=)
9g.894072G>ACA372776832DMRT1c.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
9g.894072G>CCA372776833DMRT1c.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
9g.894072G>TCA372776835DMRT1c.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)
9g.894073G>ACA372776836DMRT1c.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
9g.894073G>CCA372776838DMRT1c.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
9g.894073G=CA1827190774DMRT1c.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=)
9g.894073G>TCA187864974DMRT1c.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
9g.894074C>ACA372776839DMRT1c.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)
9g.894074C=CA1827190779DMRT1c.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=)
9g.894074C>GCA372776841DMRT1c.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
9g.894074C>TCA372776843DMRT1c.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
9g.894075C>ACA463850364DMRT1c.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=)
9g.894075C>GCA463850365DMRT1c.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
9g.894075C>TCA463850363DMRT1c.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=)
9g.894076T>ACA372776844DMRT1c.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)
9g.894076T>CCA463850368DMRT1c.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
9g.894076T>GCA372776846DMRT1c.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)
9g.894077T>ACA372776847DMRT1c.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)
9g.894077T>CCA372776849DMRT1c.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)
9g.894077T>GCA372776848DMRT1c.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)
9g.894078G>ACA463850370DMRT1c.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
9g.894078G>CCA372776850DMRT1c.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
9g.894078G>TCA372776852DMRT1c.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)
9g.894079G>ACA372776854DMRT1c.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
9g.894079G>CCA372776855DMRT1c.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)
9g.894079G>TCA372776857DMRT1c.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)
9g.894080C>ACA372776859DMRT1c.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)
9g.894080C=CA1827190781DMRT1c.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=)
9g.894080C>GCA372776860DMRT1c.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
9g.894080C>TCA372776862DMRT1c.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
9g.894081T>ACA463850374DMRT1c.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=)
9g.894081T>CCA463850376DMRT1c.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=)
9g.894081T>GCA463850375DMRT1c.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=)
9g.894082G>ACA372776864DMRT1c.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
9g.894082G>CCA372776866DMRT1c.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)
9g.894082G=CA1827190783DMRT1c.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=)
9g.894082G>TCA372776867DMRT1c.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)
9g.894083C>ACA372776871DMRT1c.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)
9g.894083C>GCA372776869DMRT1c.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
9g.894083C>TCA372776868DMRT1c.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)
9g.894084T>ACA463850378DMRT1c.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=)
9g.894084T>CCA463850379DMRT1c.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=)
9g.894084T>GCA4961626DMRT1c.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
9g.894084T=CA1827190785DMRT1c.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=)
9g.894085G>ACA372776873DMRT1c.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)
9g.894085G>CCA372776874DMRT1c.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)
9g.894085G>TCA372776875DMRT1c.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)
9g.894086A>CCA372776878DMRT1c.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)
9g.894086A>GCA372776879DMRT1c.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
9g.894086A>TCA372776881DMRT1c.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)
9g.894087T>ACA372776882DMRT1c.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)
9g.894087T>CCA463850382DMRT1c.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=)
9g.894087T>GCA372776883DMRT1c.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)
9g.894088T>ACA372776885DMRT1c.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)
9g.894088T>CCA372776887DMRT1c.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)
9g.894088T>GCA372776889DMRT1c.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)
9g.894089C>ACA372776893DMRT1c.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)
9g.894089C=CA1827190789DMRT1c.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=)
9g.894089C>GCA372776892DMRT1c.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)
9g.894089C>TCA187864981DMRT1c.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
9g.894090T>ACA463850389DMRT1c.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=)
9g.894090T>CCA4961628DMRT1c.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
9g.894090T>GCA4961627DMRT1c.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
9g.894090T=CA1827190791DMRT1c.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=)
9g.894091G>ACA372776896DMRT1c.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)
9g.894091G>CCA4961629DMRT1c.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
9g.894091G=CA1827190794DMRT1c.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=)
9g.894091G>TCA372776898DMRT1c.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)
9g.894092C>ACA372776903DMRT1c.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
9g.894092C=CA1827190798DMRT1c.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=)
9g.894092C>GCA372776902DMRT1c.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
9g.894092C>TCA372776900DMRT1c.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
9g.894093T>ACA463850395DMRT1c.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=)
9g.894093T>CCA463850396DMRT1c.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
9g.894093T>GCA463850398DMRT1c.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=)
9g.894094T>ACA372776905DMRT1c.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)
9g.894094T>CCA372776906DMRT1c.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)
9g.894094T>GCA372776907DMRT1c.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)
9g.894095C>ACA187864988DMRT1c.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
9g.894095C=CA1827190801DMRT1c.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=)
9g.894095C>GCA372776910DMRT1c.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
9g.894095C>TCA372776911DMRT1c.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)
9g.894096T>ACA463850403DMRT1c.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=)
9g.894096T>CCA463850406DMRT1c.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=)
9g.894096T>GCA463850405DMRT1c.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=)
9g.894097G>ACA372776913DMRT1c.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)
9g.894097G>CCA372776916DMRT1c.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)
9g.894097G=CA1827190803DMRT1c.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=)
9g.894097G>TCA372776914DMRT1c.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
9g.894098G>ACA372776918DMRT1c.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)
9g.894098G>CCA372776919DMRT1c.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
9g.894098G>TCA372776920DMRT1c.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)
9g.894099G>ACA463850412DMRT1c.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
9g.894099G>CCA463850413DMRT1c.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=)
9g.894099G=CA1827190806DMRT1c.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=)
9g.894099G>TCA463850414DMRT1c.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=)
9g.894100G>ACA4961630DMRT1c.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
9g.894100G>CCA372776922DMRT1c.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)
9g.894100G=CA1827190808DMRT1c.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=)
9g.894100G>TCA372776924DMRT1c.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)
9g.894101A>CCA372776926DMRT1c.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)
9g.894101A>GCA372776927DMRT1c.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)
9g.894101A>TCA372776928DMRT1c.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)
9g.894102G>ACA463850417DMRT1c.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
9g.894102G>CCA372776930DMRT1c.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)
9g.894102G=CA1827190811DMRT1c.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=)
9g.894102G>TCA372776932DMRT1c.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)
9g.894103G>ACA4961632DMRT1c.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
9g.894103G>CCA4961631DMRT1c.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
9g.894103G=CA1827190813DMRT1c.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=)
9g.894103G>TCA372776933DMRT1c.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)
9g.894104T>ACA372776934DMRT1c.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
9g.894104T>CCA372776937DMRT1c.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)
9g.894104T>GCA372776936DMRT1c.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
9g.894104T=CA1827190816DMRT1c.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=)
9g.894105G>ACA463850426DMRT1c.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=)
9g.894105G>CCA463850427DMRT1c.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
9g.894105G>TCA463850428DMRT1c.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=)

Number of alleles fetched