Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
9g.894106G>ACA372776939DMRT1c.733G>A (p.Gly245Arg)
n.882G>A
c.259G>A (p.Gly87Arg)
c.781G>A (p.Gly261Arg)
c.587-22657G>A (n.587-22657G>A)
c.539-22657G>A (n.539-22657G>A)
c.187G>A (p.Gly63Arg)
gnomAD v4
9g.894106G>CCA372776940DMRT1c.733G>C (p.Gly245Arg)
n.882G>C
c.259G>C (p.Gly87Arg)
c.781G>C (p.Gly261Arg)
c.587-22657G>C (n.587-22657G>C)
c.539-22657G>C (n.539-22657G>C)
c.187G>C (p.Gly63Arg)
9g.894106G>TCA372776942DMRT1c.733G>T (p.Gly245Ter)
n.882G>T
c.259G>T (p.Gly87Ter)
c.781G>T (p.Gly261Ter)
c.587-22657G>T (n.587-22657G>T)
c.539-22657G>T (n.539-22657G>T)
c.187G>T (p.Gly63Ter)
9g.894107G>ACA4961633DMRT1c.734G>A (p.Gly245Glu)
n.883G>A
c.260G>A (p.Gly87Glu)
c.782G>A (p.Gly261Glu)
c.587-22656G>A (n.587-22656G>A)
c.539-22656G>A (n.539-22656G>A)
c.188G>A (p.Gly63Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894107G>CCA372776944DMRT1c.734G>C (p.Gly245Ala)
n.883G>C
c.260G>C (p.Gly87Ala)
c.782G>C (p.Gly261Ala)
c.587-22656G>C (n.587-22656G>C)
c.539-22656G>C (n.539-22656G>C)
c.188G>C (p.Gly63Ala)
9g.894107G=CA1827190817DMRT1c.734G= (p.Gly245=)
n.883G=
c.260G= (p.Gly87=)
c.782G= (p.Gly261=)
c.587-22656G= (n.587-22656G=)
c.539-22656G= (n.539-22656G=)
c.188G= (p.Gly63=)
9g.894107G>TCA372776946DMRT1c.734G>T (p.Gly245Val)
n.883G>T
c.260G>T (p.Gly87Val)
c.782G>T (p.Gly261Val)
c.587-22656G>T (n.587-22656G>T)
c.539-22656G>T (n.539-22656G>T)
c.188G>T (p.Gly63Val)
9g.894108A=CA1827190819DMRT1c.735A= (p.Gly245=)
n.884A=
c.261A= (p.Gly87=)
c.783A= (p.Gly261=)
c.587-22655A= (n.587-22655A=)
c.539-22655A= (n.539-22655A=)
c.189A= (p.Gly63=)
9g.894108A>CCA463850437DMRT1c.735A>C (p.Gly245=)
n.884A>C
c.261A>C (p.Gly87=)
c.783A>C (p.Gly261=)
c.587-22655A>C (n.587-22655A>C)
c.539-22655A>C (n.539-22655A>C)
c.189A>C (p.Gly63=)
dbSNP
9g.894108A>GCA4961634DMRT1c.735A>G (p.Gly245=)
n.884A>G
c.261A>G (p.Gly87=)
c.783A>G (p.Gly261=)
c.587-22655A>G (n.587-22655A>G)
c.539-22655A>G (n.539-22655A>G)
c.189A>G (p.Gly63=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894108A>TCA463850438DMRT1c.735A>T (p.Gly245=)
n.884A>T
c.261A>T (p.Gly87=)
c.783A>T (p.Gly261=)
c.587-22655A>T (n.587-22655A>T)
c.539-22655A>T (n.539-22655A>T)
c.189A>T (p.Gly63=)
9g.894109A=CA1827190821DMRT1c.736A= (p.Asn246=)
n.885A=
c.262A= (p.Asn88=)
c.784A= (p.Asn262=)
c.587-22654A= (n.587-22654A=)
c.539-22654A= (n.539-22654A=)
c.190A= (p.Asn64=)
9g.894109A>CCA372776948DMRT1c.736A>C (p.Asn246His)
n.885A>C
c.262A>C (p.Asn88His)
c.784A>C (p.Asn262His)
c.587-22654A>C (n.587-22654A>C)
c.539-22654A>C (n.539-22654A>C)
c.190A>C (p.Asn64His)
gnomAD v4
9g.894109A>GCA372776950DMRT1c.736A>G (p.Asn246Asp)
n.885A>G
c.262A>G (p.Asn88Asp)
c.784A>G (p.Asn262Asp)
c.587-22654A>G (n.587-22654A>G)
c.539-22654A>G (n.539-22654A>G)
c.190A>G (p.Asn64Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894109A>TCA372776951DMRT1c.736A>T (p.Asn246Tyr)
n.885A>T
c.262A>T (p.Asn88Tyr)
c.784A>T (p.Asn262Tyr)
c.587-22654A>T (n.587-22654A>T)
c.539-22654A>T (n.539-22654A>T)
c.190A>T (p.Asn64Tyr)
9g.894110A=CA1827190823DMRT1c.737A= (p.Asn246=)
n.886A=
c.263A= (p.Asn88=)
c.785A= (p.Asn262=)
c.587-22653A= (n.587-22653A=)
c.539-22653A= (n.539-22653A=)
c.191A= (p.Asn64=)
9g.894110A>CCA372776953DMRT1c.737A>C (p.Asn246Thr)
n.886A>C
c.263A>C (p.Asn88Thr)
c.785A>C (p.Asn262Thr)
c.587-22653A>C (n.587-22653A>C)
c.539-22653A>C (n.539-22653A>C)
c.191A>C (p.Asn64Thr)
9g.894110A>GCA372776955DMRT1c.737A>G (p.Asn246Ser)
n.886A>G
c.263A>G (p.Asn88Ser)
c.785A>G (p.Asn262Ser)
c.587-22653A>G (n.587-22653A>G)
c.539-22653A>G (n.539-22653A>G)
c.191A>G (p.Asn64Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.894110A>TCA372776957DMRT1c.737A>T (p.Asn246Ile)
n.886A>T
c.263A>T (p.Asn88Ile)
c.785A>T (p.Asn262Ile)
c.587-22653A>T (n.587-22653A>T)
c.539-22653A>T (n.539-22653A>T)
c.191A>T (p.Asn64Ile)
9g.894111T>ACA372776959DMRT1c.738T>A (p.Asn246Lys)
n.887T>A
c.264T>A (p.Asn88Lys)
c.786T>A (p.Asn262Lys)
c.587-22652T>A (n.587-22652T>A)
c.539-22652T>A (n.539-22652T>A)
c.192T>A (p.Asn64Lys)
gnomAD v4
9g.894111T>CCA463850444DMRT1c.738T>C (p.Asn246=)
n.887T>C
c.264T>C (p.Asn88=)
c.786T>C (p.Asn262=)
c.587-22652T>C (n.587-22652T>C)
c.539-22652T>C (n.539-22652T>C)
c.192T>C (p.Asn64=)
9g.894111T>GCA372776958DMRT1c.738T>G (p.Asn246Lys)
n.887T>G
c.264T>G (p.Asn88Lys)
c.786T>G (p.Asn262Lys)
c.587-22652T>G (n.587-22652T>G)
c.539-22652T>G (n.539-22652T>G)
c.192T>G (p.Asn64Lys)
9g.894112C>ACA372776960DMRT1c.739C>A (p.Pro247Thr)
n.888C>A
c.265C>A (p.Pro89Thr)
c.787C>A (p.Pro263Thr)
c.587-22651C>A (n.587-22651C>A)
c.539-22651C>A (n.539-22651C>A)
c.193C>A (p.Pro65Thr)
dbSNP gnomAD v3 gnomAD v4
9g.894112C=CA1827190824DMRT1c.739C= (p.Pro247=)
n.888C=
c.265C= (p.Pro89=)
c.787C= (p.Pro263=)
c.587-22651C= (n.587-22651C=)
c.539-22651C= (n.539-22651C=)
c.193C= (p.Pro65=)
9g.894112C>GCA372776961DMRT1c.739C>G (p.Pro247Ala)
n.888C>G
c.265C>G (p.Pro89Ala)
c.787C>G (p.Pro263Ala)
c.587-22651C>G (n.587-22651C>G)
c.539-22651C>G (n.539-22651C>G)
c.193C>G (p.Pro65Ala)
dbSNP gnomAD v2 gnomAD v4
9g.894112C>TCA372776962DMRT1c.739C>T (p.Pro247Ser)
n.888C>T
c.265C>T (p.Pro89Ser)
c.787C>T (p.Pro263Ser)
c.587-22651C>T (n.587-22651C>T)
c.539-22651C>T (n.539-22651C>T)
c.193C>T (p.Pro65Ser)
dbSNP gnomAD v4
9g.894113C>ACA372776963DMRT1c.740C>A (p.Pro247His)
n.889C>A
c.266C>A (p.Pro89His)
c.788C>A (p.Pro263His)
c.587-22650C>A (n.587-22650C>A)
c.539-22650C>A (n.539-22650C>A)
c.194C>A (p.Pro65His)
9g.894113C>GCA372776964DMRT1c.740C>G (p.Pro247Arg)
n.889C>G
c.266C>G (p.Pro89Arg)
c.788C>G (p.Pro263Arg)
c.587-22650C>G (n.587-22650C>G)
c.539-22650C>G (n.539-22650C>G)
c.194C>G (p.Pro65Arg)
9g.894113C>TCA372776966DMRT1c.740C>T (p.Pro247Leu)
n.889C>T
c.266C>T (p.Pro89Leu)
c.788C>T (p.Pro263Leu)
c.587-22650C>T (n.587-22650C>T)
c.539-22650C>T (n.539-22650C>T)
c.194C>T (p.Pro65Leu)
9g.894114C>ACA463850454DMRT1c.741C>A (p.Pro247=)
n.890C>A
c.267C>A (p.Pro89=)
c.789C>A (p.Pro263=)
c.587-22649C>A (n.587-22649C>A)
c.539-22649C>A (n.539-22649C>A)
c.195C>A (p.Pro65=)
9g.894114C=CA1827190827DMRT1c.741C= (p.Pro247=)
n.890C=
c.267C= (p.Pro89=)
c.789C= (p.Pro263=)
c.587-22649C= (n.587-22649C=)
c.539-22649C= (n.539-22649C=)
c.195C= (p.Pro65=)
9g.894114C>GCA463850455DMRT1c.741C>G (p.Pro247=)
n.890C>G
c.267C>G (p.Pro89=)
c.789C>G (p.Pro263=)
c.587-22649C>G (n.587-22649C>G)
c.539-22649C>G (n.539-22649C>G)
c.195C>G (p.Pro65=)
dbSNP gnomAD v4
9g.894114C>TCA463850456DMRT1c.741C>T (p.Pro247=)
n.890C>T
c.267C>T (p.Pro89=)
c.789C>T (p.Pro263=)
c.587-22649C>T (n.587-22649C>T)
c.539-22649C>T (n.539-22649C>T)
c.195C>T (p.Pro65=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.894115C>ACA372776968DMRT1c.742C>A (p.Leu248Ile)
n.891C>A
c.268C>A (p.Leu90Ile)
c.790C>A (p.Leu264Ile)
c.587-22648C>A (n.587-22648C>A)
c.539-22648C>A (n.539-22648C>A)
c.196C>A (p.Leu66Ile)
9g.894115C>GCA372776969DMRT1c.742C>G (p.Leu248Val)
n.891C>G
c.268C>G (p.Leu90Val)
c.790C>G (p.Leu264Val)
c.587-22648C>G (n.587-22648C>G)
c.539-22648C>G (n.539-22648C>G)
c.196C>G (p.Leu66Val)
9g.894115C>TCA372776971DMRT1c.742C>T (p.Leu248Phe)
n.891C>T
c.268C>T (p.Leu90Phe)
c.790C>T (p.Leu264Phe)
c.587-22648C>T (n.587-22648C>T)
c.539-22648C>T (n.539-22648C>T)
c.196C>T (p.Leu66Phe)
9g.894116T>ACA372776973DMRT1c.743T>A (p.Leu248His)
n.892T>A
c.269T>A (p.Leu90His)
c.791T>A (p.Leu264His)
c.587-22647T>A (n.587-22647T>A)
c.539-22647T>A (n.539-22647T>A)
c.197T>A (p.Leu66His)
9g.894116T>CCA372776975DMRT1c.743T>C (p.Leu248Pro)
n.892T>C
c.269T>C (p.Leu90Pro)
c.791T>C (p.Leu264Pro)
c.587-22647T>C (n.587-22647T>C)
c.539-22647T>C (n.539-22647T>C)
c.197T>C (p.Leu66Pro)
9g.894116T>GCA372776976DMRT1c.743T>G (p.Leu248Arg)
n.892T>G
c.269T>G (p.Leu90Arg)
c.791T>G (p.Leu264Arg)
c.587-22647T>G (n.587-22647T>G)
c.539-22647T>G (n.539-22647T>G)
c.197T>G (p.Leu66Arg)
9g.894117C>ACA463850460DMRT1c.744C>A (p.Leu248=)
n.893C>A
c.270C>A (p.Leu90=)
c.792C>A (p.Leu264=)
c.587-22646C>A (n.587-22646C>A)
c.539-22646C>A (n.539-22646C>A)
c.198C>A (p.Leu66=)
9g.894117C=CA1827190829DMRT1c.744C= (p.Leu248=)
n.893C=
c.270C= (p.Leu90=)
c.792C= (p.Leu264=)
c.587-22646C= (n.587-22646C=)
c.539-22646C= (n.539-22646C=)
c.198C= (p.Leu66=)
9g.894117C>GCA463850462DMRT1c.744C>G (p.Leu248=)
n.893C>G
c.270C>G (p.Leu90=)
c.792C>G (p.Leu264=)
c.587-22646C>G (n.587-22646C>G)
c.539-22646C>G (n.539-22646C>G)
c.198C>G (p.Leu66=)
9g.894117C>TCA4961635DMRT1c.744C>T (p.Leu248=)
n.893C>T
c.270C>T (p.Leu90=)
c.792C>T (p.Leu264=)
c.587-22646C>T (n.587-22646C>T)
c.539-22646C>T (n.539-22646C>T)
c.198C>T (p.Leu66=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.894118G>ACA4961636DMRT1c.745G>A (p.Gly249Arg)
n.894G>A
c.271G>A (p.Gly91Arg)
c.793G>A (p.Gly265Arg)
c.587-22645G>A (n.587-22645G>A)
c.539-22645G>A (n.539-22645G>A)
c.199G>A (p.Gly67Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894118G>CCA372776980DMRT1c.745G>C (p.Gly249Arg)
n.894G>C
c.271G>C (p.Gly91Arg)
c.793G>C (p.Gly265Arg)
c.587-22645G>C (n.587-22645G>C)
c.539-22645G>C (n.539-22645G>C)
c.199G>C (p.Gly67Arg)
9g.894118G=CA1827190831DMRT1c.745G= (p.Gly249=)
n.894G=
c.271G= (p.Gly91=)
c.793G= (p.Gly265=)
c.587-22645G= (n.587-22645G=)
c.539-22645G= (n.539-22645G=)
c.199G= (p.Gly67=)
9g.894118G>TCA187865018DMRT1c.745G>T (p.Gly249Trp)
n.894G>T
c.271G>T (p.Gly91Trp)
c.793G>T (p.Gly265Trp)
c.587-22645G>T (n.587-22645G>T)
c.539-22645G>T (n.539-22645G>T)
c.199G>T (p.Gly67Trp)
dbSNP COSMIC
9g.894119G>ACA372776981DMRT1c.746G>A (p.Gly249Glu)
n.895G>A
c.272G>A (p.Gly91Glu)
c.794G>A (p.Gly265Glu)
c.587-22644G>A (n.587-22644G>A)
c.539-22644G>A (n.539-22644G>A)
c.200G>A (p.Gly67Glu)
9g.894119G>CCA372776983DMRT1c.746G>C (p.Gly249Ala)
n.895G>C
c.272G>C (p.Gly91Ala)
c.794G>C (p.Gly265Ala)
c.587-22644G>C (n.587-22644G>C)
c.539-22644G>C (n.539-22644G>C)
c.200G>C (p.Gly67Ala)
9g.894119G>TCA372776984DMRT1c.746G>T (p.Gly249Val)
n.895G>T
c.272G>T (p.Gly91Val)
c.794G>T (p.Gly265Val)
c.587-22644G>T (n.587-22644G>T)
c.539-22644G>T (n.539-22644G>T)
c.200G>T (p.Gly67Val)
gnomAD v4
9g.894120G>ACA463850465DMRT1c.747G>A (p.Gly249=)
n.896G>A
c.273G>A (p.Gly91=)
c.795G>A (p.Gly265=)
c.587-22643G>A (n.587-22643G>A)
c.539-22643G>A (n.539-22643G>A)
c.201G>A (p.Gly67=)
COSMIC
9g.894120G>CCA4961637DMRT1c.747G>C (p.Gly249=)
n.896G>C
c.273G>C (p.Gly91=)
c.795G>C (p.Gly265=)
c.587-22643G>C (n.587-22643G>C)
c.539-22643G>C (n.539-22643G>C)
c.201G>C (p.Gly67=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894120G=CA1827190833DMRT1c.747G= (p.Gly249=)
n.896G=
c.273G= (p.Gly91=)
c.795G= (p.Gly265=)
c.587-22643G= (n.587-22643G=)
c.539-22643G= (n.539-22643G=)
c.201G= (p.Gly67=)
9g.894120G>TCA463850468DMRT1c.747G>T (p.Gly249=)
n.896G>T
c.273G>T (p.Gly91=)
c.795G>T (p.Gly265=)
c.587-22643G>T (n.587-22643G>T)
c.539-22643G>T (n.539-22643G>T)
c.201G>T (p.Gly67=)
dbSNP gnomAD v4
9g.894121G>ACA372776987DMRT1c.748G>A (p.Gly250Arg)
n.897G>A
c.274G>A (p.Gly92Arg)
c.796G>A (p.Gly266Arg)
c.587-22642G>A (n.587-22642G>A)
c.539-22642G>A (n.539-22642G>A)
c.202G>A (p.Gly68Arg)
9g.894121G>CCA372776988DMRT1c.748G>C (p.Gly250Arg)
n.897G>C
c.274G>C (p.Gly92Arg)
c.796G>C (p.Gly266Arg)
c.587-22642G>C (n.587-22642G>C)
c.539-22642G>C (n.539-22642G>C)
c.202G>C (p.Gly68Arg)
gnomAD v4
9g.894121G>TCA372776989DMRT1c.748G>T (p.Gly250Ter)
n.897G>T
c.274G>T (p.Gly92Ter)
c.796G>T (p.Gly266Ter)
c.587-22642G>T (n.587-22642G>T)
c.539-22642G>T (n.539-22642G>T)
c.202G>T (p.Gly68Ter)
9g.894122G>ACA372776991DMRT1c.749G>A (p.Gly250Glu)
n.898G>A
c.275G>A (p.Gly92Glu)
c.797G>A (p.Gly266Glu)
c.587-22641G>A (n.587-22641G>A)
c.539-22641G>A (n.539-22641G>A)
c.203G>A (p.Gly68Glu)
9g.894122G>CCA372776992DMRT1c.749G>C (p.Gly250Ala)
n.898G>C
c.275G>C (p.Gly92Ala)
c.797G>C (p.Gly266Ala)
c.587-22641G>C (n.587-22641G>C)
c.539-22641G>C (n.539-22641G>C)
c.203G>C (p.Gly68Ala)
9g.894122G=CA1827190836DMRT1c.749G= (p.Gly250=)
n.898G=
c.275G= (p.Gly92=)
c.797G= (p.Gly266=)
c.587-22641G= (n.587-22641G=)
c.539-22641G= (n.539-22641G=)
c.203G= (p.Gly68=)
9g.894122G>TCA372776993DMRT1c.749G>T (p.Gly250Val)
n.898G>T
c.275G>T (p.Gly92Val)
c.797G>T (p.Gly266Val)
c.587-22641G>T (n.587-22641G>T)
c.539-22641G>T (n.539-22641G>T)
c.203G>T (p.Gly68Val)
dbSNP gnomAD v2 gnomAD v4
9g.894123A>CCA463850473DMRT1c.750A>C (p.Gly250=)
n.899A>C
c.276A>C (p.Gly92=)
c.798A>C (p.Gly266=)
c.587-22640A>C (n.587-22640A>C)
c.539-22640A>C (n.539-22640A>C)
c.204A>C (p.Gly68=)
9g.894123A>GCA463850475DMRT1c.750A>G (p.Gly250=)
n.899A>G
c.276A>G (p.Gly92=)
c.798A>G (p.Gly266=)
c.587-22640A>G (n.587-22640A>G)
c.539-22640A>G (n.539-22640A>G)
c.204A>G (p.Gly68=)
9g.894123A>TCA463850477DMRT1c.750A>T (p.Gly250=)
n.899A>T
c.276A>T (p.Gly92=)
c.798A>T (p.Gly266=)
c.587-22640A>T (n.587-22640A>T)
c.539-22640A>T (n.539-22640A>T)
c.204A>T (p.Gly68=)
gnomAD v4
9g.894124T>ACA372776995DMRT1c.751T>A (p.Ser251Thr)
n.900T>A
c.277T>A (p.Ser93Thr)
c.799T>A (p.Ser267Thr)
c.587-22639T>A (n.587-22639T>A)
c.539-22639T>A (n.539-22639T>A)
c.205T>A (p.Ser69Thr)
9g.894124T>CCA372776996DMRT1c.751T>C (p.Ser251Pro)
n.900T>C
c.277T>C (p.Ser93Pro)
c.799T>C (p.Ser267Pro)
c.587-22639T>C (n.587-22639T>C)
c.539-22639T>C (n.539-22639T>C)
c.205T>C (p.Ser69Pro)
dbSNP gnomAD v2 gnomAD v4
9g.894124T>GCA4961638DMRT1c.751T>G (p.Ser251Ala)
n.900T>G
c.277T>G (p.Ser93Ala)
c.799T>G (p.Ser267Ala)
c.587-22639T>G (n.587-22639T>G)
c.539-22639T>G (n.539-22639T>G)
c.205T>G (p.Ser69Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894124T=CA1827190837DMRT1c.751T= (p.Ser251=)
n.900T=
c.277T= (p.Ser93=)
c.799T= (p.Ser267=)
c.587-22639T= (n.587-22639T=)
c.539-22639T= (n.539-22639T=)
c.205T= (p.Ser69=)
9g.894125C>ACA4961639DMRT1c.752C>A (p.Ser251Tyr)
n.901C>A
c.278C>A (p.Ser93Tyr)
c.800C>A (p.Ser267Tyr)
c.587-22638C>A (n.587-22638C>A)
c.539-22638C>A (n.539-22638C>A)
c.206C>A (p.Ser69Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894125C=CA1827190839DMRT1c.752C= (p.Ser251=)
n.901C=
c.278C= (p.Ser93=)
c.800C= (p.Ser267=)
c.587-22638C= (n.587-22638C=)
c.539-22638C= (n.539-22638C=)
c.206C= (p.Ser69=)
9g.894125C>GCA372776999DMRT1c.752C>G (p.Ser251Cys)
n.901C>G
c.278C>G (p.Ser93Cys)
c.800C>G (p.Ser267Cys)
c.587-22638C>G (n.587-22638C>G)
c.539-22638C>G (n.539-22638C>G)
c.206C>G (p.Ser69Cys)
9g.894125C>TCA372776998DMRT1c.752C>T (p.Ser251Phe)
n.901C>T
c.278C>T (p.Ser93Phe)
c.800C>T (p.Ser267Phe)
c.587-22638C>T (n.587-22638C>T)
c.539-22638C>T (n.539-22638C>T)
c.206C>T (p.Ser69Phe)
gnomAD v4
9g.894126C>ACA463850483DMRT1c.753C>A (p.Ser251=)
n.902C>A
c.279C>A (p.Ser93=)
c.801C>A (p.Ser267=)
c.587-22637C>A (n.587-22637C>A)
c.539-22637C>A (n.539-22637C>A)
c.207C>A (p.Ser69=)
dbSNP gnomAD v4 COSMIC
9g.894126C=CA1827190841DMRT1c.753C= (p.Ser251=)
n.902C=
c.279C= (p.Ser93=)
c.801C= (p.Ser267=)
c.587-22637C= (n.587-22637C=)
c.539-22637C= (n.539-22637C=)
c.207C= (p.Ser69=)
9g.894126C>GCA463850484DMRT1c.753C>G (p.Ser251=)
n.902C>G
c.279C>G (p.Ser93=)
c.801C>G (p.Ser267=)
c.587-22637C>G (n.587-22637C>G)
c.539-22637C>G (n.539-22637C>G)
c.207C>G (p.Ser69=)
9g.894126C>TCA463850485DMRT1c.753C>T (p.Ser251=)
n.902C>T
c.279C>T (p.Ser93=)
c.801C>T (p.Ser267=)
c.587-22637C>T (n.587-22637C>T)
c.539-22637C>T (n.539-22637C>T)
c.207C>T (p.Ser69=)
ClinVar dbSNP gnomAD v4
9g.894127C>ACA372777001DMRT1c.754C>A (p.Pro252Thr)
n.903C>A
c.280C>A (p.Pro94Thr)
c.802C>A (p.Pro268Thr)
c.587-22636C>A (n.587-22636C>A)
c.539-22636C>A (n.539-22636C>A)
c.208C>A (p.Pro70Thr)
9g.894127C=CA1827190843DMRT1c.754C= (p.Pro252=)
n.903C=
c.280C= (p.Pro94=)
c.802C= (p.Pro268=)
c.587-22636C= (n.587-22636C=)
c.539-22636C= (n.539-22636C=)
c.208C= (p.Pro70=)
9g.894127C>GCA4961640DMRT1c.754C>G (p.Pro252Ala)
n.903C>G
c.280C>G (p.Pro94Ala)
c.802C>G (p.Pro268Ala)
c.587-22636C>G (n.587-22636C>G)
c.539-22636C>G (n.539-22636C>G)
c.208C>G (p.Pro70Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.894127C>TCA372777003DMRT1c.754C>T (p.Pro252Ser)
n.903C>T
c.280C>T (p.Pro94Ser)
c.802C>T (p.Pro268Ser)
c.587-22636C>T (n.587-22636C>T)
c.539-22636C>T (n.539-22636C>T)
c.208C>T (p.Pro70Ser)
gnomAD v4 COSMIC
9g.894128C>ACA372777005DMRT1c.755C>A (p.Pro252His)
n.904C>A
c.281C>A (p.Pro94His)
c.803C>A (p.Pro268His)
c.587-22635C>A (n.587-22635C>A)
c.539-22635C>A (n.539-22635C>A)
c.209C>A (p.Pro70His)
gnomAD v4
9g.894128C=CA1827190845DMRT1c.755C= (p.Pro252=)
n.904C=
c.281C= (p.Pro94=)
c.803C= (p.Pro268=)
c.587-22635C= (n.587-22635C=)
c.539-22635C= (n.539-22635C=)
c.209C= (p.Pro70=)
9g.894128C>GCA372777006DMRT1c.755C>G (p.Pro252Arg)
n.904C>G
c.281C>G (p.Pro94Arg)
c.803C>G (p.Pro268Arg)
c.587-22635C>G (n.587-22635C>G)
c.539-22635C>G (n.539-22635C>G)
c.209C>G (p.Pro70Arg)
9g.894128C>TCA4961641DMRT1c.755C>T (p.Pro252Leu)
n.904C>T
c.281C>T (p.Pro94Leu)
c.803C>T (p.Pro268Leu)
c.587-22635C>T (n.587-22635C>T)
c.539-22635C>T (n.539-22635C>T)
c.209C>T (p.Pro70Leu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.894129T>ACA4961642DMRT1c.756T>A (p.Pro252=)
n.905T>A
c.282T>A (p.Pro94=)
c.804T>A (p.Pro268=)
c.587-22634T>A (n.587-22634T>A)
c.539-22634T>A (n.539-22634T>A)
c.210T>A (p.Pro70=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894129T>CCA463850487DMRT1c.756T>C (p.Pro252=)
n.905T>C
c.282T>C (p.Pro94=)
c.804T>C (p.Pro268=)
c.587-22634T>C (n.587-22634T>C)
c.539-22634T>C (n.539-22634T>C)
c.210T>C (p.Pro70=)
9g.894129T>GCA463850488DMRT1c.756T>G (p.Pro252=)
n.905T>G
c.282T>G (p.Pro94=)
c.804T>G (p.Pro268=)
c.587-22634T>G (n.587-22634T>G)
c.539-22634T>G (n.539-22634T>G)
c.210T>G (p.Pro70=)
dbSNP
9g.894129T=CA1827190847DMRT1c.756T= (p.Pro252=)
n.905T=
c.282T= (p.Pro94=)
c.804T= (p.Pro268=)
c.587-22634T= (n.587-22634T=)
c.539-22634T= (n.539-22634T=)
c.210T= (p.Pro70=)
9g.894130G>ACA372777008DMRT1c.757G>A (p.Val253Met)
n.906G>A
c.283G>A (p.Val95Met)
c.805G>A (p.Val269Met)
c.587-22633G>A (n.587-22633G>A)
c.539-22633G>A (n.539-22633G>A)
c.211G>A (p.Val71Met)
dbSNP
9g.894130G>CCA372777010DMRT1c.757G>C (p.Val253Leu)
n.906G>C
c.283G>C (p.Val95Leu)
c.805G>C (p.Val269Leu)
c.587-22633G>C (n.587-22633G>C)
c.539-22633G>C (n.539-22633G>C)
c.211G>C (p.Val71Leu)
9g.894130G=CA1827190849DMRT1c.757G= (p.Val253=)
n.906G=
c.283G= (p.Val95=)
c.805G= (p.Val269=)
c.587-22633G= (n.587-22633G=)
c.539-22633G= (n.539-22633G=)
c.211G= (p.Val71=)
9g.894130G>TCA372777011DMRT1c.757G>T (p.Val253Leu)
n.906G>T
c.283G>T (p.Val95Leu)
c.805G>T (p.Val269Leu)
c.587-22633G>T (n.587-22633G>T)
c.539-22633G>T (n.539-22633G>T)
c.211G>T (p.Val71Leu)
9g.894131T>ACA372777014DMRT1c.758T>A (p.Val253Glu)
n.907T>A
c.284T>A (p.Val95Glu)
c.806T>A (p.Val269Glu)
c.587-22632T>A (n.587-22632T>A)
c.539-22632T>A (n.539-22632T>A)
c.212T>A (p.Val71Glu)
9g.894131T>CCA372777015DMRT1c.758T>C (p.Val253Ala)
n.907T>C
c.284T>C (p.Val95Ala)
c.806T>C (p.Val269Ala)
c.587-22632T>C (n.587-22632T>C)
c.539-22632T>C (n.539-22632T>C)
c.212T>C (p.Val71Ala)
9g.894131T>GCA372777013DMRT1c.758T>G (p.Val253Gly)
n.907T>G
c.284T>G (p.Val95Gly)
c.806T>G (p.Val269Gly)
c.587-22632T>G (n.587-22632T>G)
c.539-22632T>G (n.539-22632T>G)
c.212T>G (p.Val71Gly)
9g.894132G>ACA463850492DMRT1c.759G>A (p.Val253=)
n.908G>A
c.285G>A (p.Val95=)
c.807G>A (p.Val269=)
c.587-22631G>A (n.587-22631G>A)
c.539-22631G>A (n.539-22631G>A)
c.213G>A (p.Val71=)
9g.894132G>CCA463850493DMRT1c.759G>C (p.Val253=)
n.908G>C
c.285G>C (p.Val95=)
c.807G>C (p.Val269=)
c.587-22631G>C (n.587-22631G>C)
c.539-22631G>C (n.539-22631G>C)
c.213G>C (p.Val71=)
9g.894132G>TCA463850495DMRT1c.759G>T (p.Val253=)
n.908G>T
c.285G>T (p.Val95=)
c.807G>T (p.Val269=)
c.587-22631G>T (n.587-22631G>T)
c.539-22631G>T (n.539-22631G>T)
c.213G>T (p.Val71=)
9g.894133A>CCA372777019DMRT1c.760A>C (p.Lys254Gln)
n.909A>C
c.286A>C (p.Lys96Gln)
c.808A>C (p.Lys270Gln)
c.587-22630A>C (n.587-22630A>C)
c.539-22630A>C (n.539-22630A>C)
c.214A>C (p.Lys72Gln)
gnomAD v4
9g.894133A>GCA372777017DMRT1c.760A>G (p.Lys254Glu)
n.909A>G
c.286A>G (p.Lys96Glu)
c.808A>G (p.Lys270Glu)
c.587-22630A>G (n.587-22630A>G)
c.539-22630A>G (n.539-22630A>G)
c.214A>G (p.Lys72Glu)
COSMIC
9g.894133A>TCA372777018DMRT1c.760A>T (p.Lys254Ter)
n.909A>T
c.286A>T (p.Lys96Ter)
c.808A>T (p.Lys270Ter)
c.587-22630A>T (n.587-22630A>T)
c.539-22630A>T (n.539-22630A>T)
c.214A>T (p.Lys72Ter)
9g.894134A=CA1827190851DMRT1c.761A= (p.Lys254=)
n.910A=
c.287A= (p.Lys96=)
c.809A= (p.Lys270=)
c.587-22629A= (n.587-22629A=)
c.539-22629A= (n.539-22629A=)
c.215A= (p.Lys72=)
9g.894134A>CCA4961643DMRT1c.761A>C (p.Lys254Thr)
n.910A>C
c.287A>C (p.Lys96Thr)
c.809A>C (p.Lys270Thr)
c.587-22629A>C (n.587-22629A>C)
c.539-22629A>C (n.539-22629A>C)
c.215A>C (p.Lys72Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894134A>GCA372777021DMRT1c.761A>G (p.Lys254Arg)
n.910A>G
c.287A>G (p.Lys96Arg)
c.809A>G (p.Lys270Arg)
c.587-22629A>G (n.587-22629A>G)
c.539-22629A>G (n.539-22629A>G)
c.215A>G (p.Lys72Arg)
9g.894134A>TCA372777023DMRT1c.761A>T (p.Lys254Met)
n.910A>T
c.287A>T (p.Lys96Met)
c.809A>T (p.Lys270Met)
c.587-22629A>T (n.587-22629A>T)
c.539-22629A>T (n.539-22629A>T)
c.215A>T (p.Lys72Met)
9g.894135G>ACA187865081DMRT1c.762G>A (p.Lys254=)
n.911G>A
c.288G>A (p.Lys96=)
c.810G>A (p.Lys270=)
c.587-22628G>A (n.587-22628G>A)
c.539-22628G>A (n.539-22628G>A)
c.216G>A (p.Lys72=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.894135G>CCA372777025DMRT1c.762G>C (p.Lys254Asn)
n.911G>C
c.288G>C (p.Lys96Asn)
c.810G>C (p.Lys270Asn)
c.587-22628G>C (n.587-22628G>C)
c.539-22628G>C (n.539-22628G>C)
c.216G>C (p.Lys72Asn)
9g.894135G=CA1827190852DMRT1c.762G= (p.Lys254=)
n.911G=
c.288G= (p.Lys96=)
c.810G= (p.Lys270=)
c.587-22628G= (n.587-22628G=)
c.539-22628G= (n.539-22628G=)
c.216G= (p.Lys72=)
9g.894135G>TCA372777027DMRT1c.762G>T (p.Lys254Asn)
n.911G>T
c.288G>T (p.Lys96Asn)
c.810G>T (p.Lys270Asn)
c.587-22628G>T (n.587-22628G>T)
c.539-22628G>T (n.539-22628G>T)
c.216G>T (p.Lys72Asn)
9g.894136A>CCA372777028DMRT1c.763A>C (p.Asn255His)
n.912A>C
c.289A>C (p.Asn97His)
c.811A>C (p.Asn271His)
c.587-22627A>C (n.587-22627A>C)
c.539-22627A>C (n.539-22627A>C)
c.217A>C (p.Asn73His)
9g.894136A>GCA372777030DMRT1c.763A>G (p.Asn255Asp)
n.912A>G
c.289A>G (p.Asn97Asp)
c.811A>G (p.Asn271Asp)
c.587-22627A>G (n.587-22627A>G)
c.539-22627A>G (n.539-22627A>G)
c.217A>G (p.Asn73Asp)
9g.894136A>TCA372777032DMRT1c.763A>T (p.Asn255Tyr)
n.912A>T
c.289A>T (p.Asn97Tyr)
c.811A>T (p.Asn271Tyr)
c.587-22627A>T (n.587-22627A>T)
c.539-22627A>T (n.539-22627A>T)
c.217A>T (p.Asn73Tyr)
9g.894136_894145delCA2689223427DMRT1c.763_772del (p.Asn255GlyfsTer18)
n.912_921del
c.289_298del (p.Asn97GlyfsTer18)
c.763_772del (p.Asn255GlyfsTer19)
c.811_820del (p.Asn271GlyfsTer19)
c.811_820del (p.Asn271GlyfsTer18)
c.811_820del (p.Asn271GlyfsTer?)
c.289_298del (p.Asn97GlyfsTer19)
c.587-22627_587-22618del (n.587-22627_587-22618del)
c.539-22627_539-22618del (n.539-22627_539-22618del)
c.217_226del (p.Asn73GlyfsTer18)
gnomAD v4
9g.894137A>CCA372777033DMRT1c.764A>C (p.Asn255Thr)
n.913A>C
c.290A>C (p.Asn97Thr)
c.812A>C (p.Asn271Thr)
c.587-22626A>C (n.587-22626A>C)
c.539-22626A>C (n.539-22626A>C)
c.218A>C (p.Asn73Thr)
9g.894137A>GCA372777034DMRT1c.764A>G (p.Asn255Ser)
n.913A>G
c.290A>G (p.Asn97Ser)
c.812A>G (p.Asn271Ser)
c.587-22626A>G (n.587-22626A>G)
c.539-22626A>G (n.539-22626A>G)
c.218A>G (p.Asn73Ser)
gnomAD v4
9g.894137A>TCA372777035DMRT1c.764A>T (p.Asn255Ile)
n.913A>T
c.290A>T (p.Asn97Ile)
c.812A>T (p.Asn271Ile)
c.587-22626A>T (n.587-22626A>T)
c.539-22626A>T (n.539-22626A>T)
c.218A>T (p.Asn73Ile)
COSMIC
9g.894138C>ACA372777039DMRT1c.765C>A (p.Asn255Lys)
n.914C>A
c.291C>A (p.Asn97Lys)
c.813C>A (p.Asn271Lys)
c.587-22625C>A (n.587-22625C>A)
c.539-22625C>A (n.539-22625C>A)
c.219C>A (p.Asn73Lys)
9g.894138C>GCA372777037DMRT1c.765C>G (p.Asn255Lys)
n.914C>G
c.291C>G (p.Asn97Lys)
c.813C>G (p.Asn271Lys)
c.587-22625C>G (n.587-22625C>G)
c.539-22625C>G (n.539-22625C>G)
c.219C>G (p.Asn73Lys)
9g.894138C>TCA463850507DMRT1c.765C>T (p.Asn255=)
n.914C>T
c.291C>T (p.Asn97=)
c.813C>T (p.Asn271=)
c.587-22625C>T (n.587-22625C>T)
c.539-22625C>T (n.539-22625C>T)
c.219C>T (p.Asn73=)
gnomAD v4
9g.894139A>CCA372777040DMRT1c.766A>C (p.Ser256Arg)
n.915A>C
c.292A>C (p.Ser98Arg)
c.814A>C (p.Ser272Arg)
c.587-22624A>C (n.587-22624A>C)
c.539-22624A>C (n.539-22624A>C)
c.220A>C (p.Ser74Arg)
9g.894139A>GCA372777041DMRT1c.766A>G (p.Ser256Gly)
n.915A>G
c.292A>G (p.Ser98Gly)
c.814A>G (p.Ser272Gly)
c.587-22624A>G (n.587-22624A>G)
c.539-22624A>G (n.539-22624A>G)
c.220A>G (p.Ser74Gly)
9g.894139A>TCA372777042DMRT1c.766A>T (p.Ser256Cys)
n.915A>T
c.292A>T (p.Ser98Cys)
c.814A>T (p.Ser272Cys)
c.587-22624A>T (n.587-22624A>T)
c.539-22624A>T (n.539-22624A>T)
c.220A>T (p.Ser74Cys)
9g.894140G>ACA4961644DMRT1c.767G>A (p.Ser256Asn)
n.916G>A
c.293G>A (p.Ser98Asn)
c.815G>A (p.Ser272Asn)
c.587-22623G>A (n.587-22623G>A)
c.539-22623G>A (n.539-22623G>A)
c.221G>A (p.Ser74Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894140G>CCA187865092DMRT1c.767G>C (p.Ser256Thr)
n.916G>C
c.293G>C (p.Ser98Thr)
c.815G>C (p.Ser272Thr)
c.587-22623G>C (n.587-22623G>C)
c.539-22623G>C (n.539-22623G>C)
c.221G>C (p.Ser74Thr)
dbSNP
9g.894140G=CA1827190854DMRT1c.767G= (p.Ser256=)
n.916G=
c.293G= (p.Ser98=)
c.815G= (p.Ser272=)
c.587-22623G= (n.587-22623G=)
c.539-22623G= (n.539-22623G=)
c.221G= (p.Ser74=)
9g.894140G>TCA372777043DMRT1c.767G>T (p.Ser256Ile)
n.916G>T
c.293G>T (p.Ser98Ile)
c.815G>T (p.Ser272Ile)
c.587-22623G>T (n.587-22623G>T)
c.539-22623G>T (n.539-22623G>T)
c.221G>T (p.Ser74Ile)
9g.894141C>ACA372777045DMRT1c.768C>A (p.Ser256Arg)
n.917C>A
c.294C>A (p.Ser98Arg)
c.816C>A (p.Ser272Arg)
c.587-22622C>A (n.587-22622C>A)
c.539-22622C>A (n.539-22622C>A)
c.222C>A (p.Ser74Arg)
gnomAD v4
9g.894141C=CA1827190857DMRT1c.768C= (p.Ser256=)
n.917C=
c.294C= (p.Ser98=)
c.816C= (p.Ser272=)
c.587-22622C= (n.587-22622C=)
c.539-22622C= (n.539-22622C=)
c.222C= (p.Ser74=)
9g.894141C>GCA4961645DMRT1c.768C>G (p.Ser256Arg)
n.917C>G
c.294C>G (p.Ser98Arg)
c.816C>G (p.Ser272Arg)
c.587-22622C>G (n.587-22622C>G)
c.539-22622C>G (n.539-22622C>G)
c.222C>G (p.Ser74Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.894141C>TCA463850516DMRT1c.768C>T (p.Ser256=)
n.917C>T
c.294C>T (p.Ser98=)
c.816C>T (p.Ser272=)
c.587-22622C>T (n.587-22622C>T)
c.539-22622C>T (n.539-22622C>T)
c.222C>T (p.Ser74=)
9g.894142C>ACA372777048DMRT1c.769C>A (p.Leu257Ile)
n.918C>A
c.295C>A (p.Leu99Ile)
c.817C>A (p.Leu273Ile)
c.587-22621C>A (n.587-22621C>A)
c.539-22621C>A (n.539-22621C>A)
c.223C>A (p.Leu75Ile)
9g.894142C=CA1827190858DMRT1c.769C= (p.Leu257=)
n.918C=
c.295C= (p.Leu99=)
c.817C= (p.Leu273=)
c.587-22621C= (n.587-22621C=)
c.539-22621C= (n.539-22621C=)
c.223C= (p.Leu75=)
9g.894142C>GCA372777050DMRT1c.769C>G (p.Leu257Val)
n.918C>G
c.295C>G (p.Leu99Val)
c.817C>G (p.Leu273Val)
c.587-22621C>G (n.587-22621C>G)
c.539-22621C>G (n.539-22621C>G)
c.223C>G (p.Leu75Val)
dbSNP gnomAD v3 gnomAD v4
9g.894142C>TCA372777054DMRT1c.769C>T (p.Leu257Phe)
n.918C>T
c.295C>T (p.Leu99Phe)
c.817C>T (p.Leu273Phe)
c.587-22621C>T (n.587-22621C>T)
c.539-22621C>T (n.539-22621C>T)
c.223C>T (p.Leu75Phe)
9g.894143T>ACA372777056DMRT1c.770T>A (p.Leu257His)
n.919T>A
c.296T>A (p.Leu99His)
c.818T>A (p.Leu273His)
c.587-22620T>A (n.587-22620T>A)
c.539-22620T>A (n.539-22620T>A)
c.224T>A (p.Leu75His)
9g.894143T>CCA372777057DMRT1c.770T>C (p.Leu257Pro)
n.919T>C
c.296T>C (p.Leu99Pro)
c.818T>C (p.Leu273Pro)
c.587-22620T>C (n.587-22620T>C)
c.539-22620T>C (n.539-22620T>C)
c.224T>C (p.Leu75Pro)
9g.894143T>GCA372777058DMRT1c.770T>G (p.Leu257Arg)
n.919T>G
c.296T>G (p.Leu99Arg)
c.818T>G (p.Leu273Arg)
c.587-22620T>G (n.587-22620T>G)
c.539-22620T>G (n.539-22620T>G)
c.224T>G (p.Leu75Arg)
9g.894144T>ACA463850520DMRT1c.771T>A (p.Leu257=)
n.920T>A
c.297T>A (p.Leu99=)
c.819T>A (p.Leu273=)
c.587-22619T>A (n.587-22619T>A)
c.539-22619T>A (n.539-22619T>A)
c.225T>A (p.Leu75=)
COSMIC
9g.894144T>CCA463850518DMRT1c.771T>C (p.Leu257=)
n.920T>C
c.297T>C (p.Leu99=)
c.819T>C (p.Leu273=)
c.587-22619T>C (n.587-22619T>C)
c.539-22619T>C (n.539-22619T>C)
c.225T>C (p.Leu75=)
9g.894144T>GCA463850519DMRT1c.771T>G (p.Leu257=)
n.920T>G
c.297T>G (p.Leu99=)
c.819T>G (p.Leu273=)
c.587-22619T>G (n.587-22619T>G)
c.539-22619T>G (n.539-22619T>G)
c.225T>G (p.Leu75=)

Number of alleles fetched