Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.894044A= | CA1827190727 | DMRT1 | c.671A= (p.Asn224=) n.820A= c.197A= (p.Asn66=) c.719A= (p.Asn240=) c.587-22719A= (n.587-22719A=) c.539-22719A= (n.539-22719A=) c.125A= (p.Asn42=) | |
9 | g.894044A>C | CA372776735 | DMRT1 | c.671A>C (p.Asn224Thr) n.820A>C c.197A>C (p.Asn66Thr) c.719A>C (p.Asn240Thr) c.587-22719A>C (n.587-22719A>C) c.539-22719A>C (n.539-22719A>C) c.125A>C (p.Asn42Thr) | gnomAD v4 |
9 | g.894044A>G | CA4961619 | DMRT1 | c.671A>G (p.Asn224Ser) n.820A>G c.197A>G (p.Asn66Ser) c.719A>G (p.Asn240Ser) c.587-22719A>G (n.587-22719A>G) c.539-22719A>G (n.539-22719A>G) c.125A>G (p.Asn42Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894044A>T | CA372776736 | DMRT1 | c.671A>T (p.Asn224Ile) n.820A>T c.197A>T (p.Asn66Ile) c.719A>T (p.Asn240Ile) c.587-22719A>T (n.587-22719A>T) c.539-22719A>T (n.539-22719A>T) c.125A>T (p.Asn42Ile) | |
9 | g.894045T>A | CA372776737 | DMRT1 | c.672T>A (p.Asn224Lys) n.821T>A c.198T>A (p.Asn66Lys) c.720T>A (p.Asn240Lys) c.587-22718T>A (n.587-22718T>A) c.539-22718T>A (n.539-22718T>A) c.126T>A (p.Asn42Lys) | |
9 | g.894045T>C | CA463850345 | DMRT1 | c.672T>C (p.Asn224=) n.821T>C c.198T>C (p.Asn66=) c.720T>C (p.Asn240=) c.587-22718T>C (n.587-22718T>C) c.539-22718T>C (n.539-22718T>C) c.126T>C (p.Asn42=) | gnomAD v4 |
9 | g.894045T>G | CA372776738 | DMRT1 | c.672T>G (p.Asn224Lys) n.821T>G c.198T>G (p.Asn66Lys) c.720T>G (p.Asn240Lys) c.587-22718T>G (n.587-22718T>G) c.539-22718T>G (n.539-22718T>G) c.126T>G (p.Asn42Lys) | |
9 | g.894046C>A | CA372776739 | DMRT1 | c.673C>A (p.Leu225Ile) n.822C>A c.199C>A (p.Leu67Ile) c.721C>A (p.Leu241Ile) c.587-22717C>A (n.587-22717C>A) c.539-22717C>A (n.539-22717C>A) c.127C>A (p.Leu43Ile) | |
9 | g.894046C= | CA1827190730 | DMRT1 | c.673C= (p.Leu225=) n.822C= c.199C= (p.Leu67=) c.721C= (p.Leu241=) c.587-22717C= (n.587-22717C=) c.539-22717C= (n.539-22717C=) c.127C= (p.Leu43=) | |
9 | g.894046C>G | CA372776740 | DMRT1 | c.673C>G (p.Leu225Val) n.822C>G c.199C>G (p.Leu67Val) c.721C>G (p.Leu241Val) c.587-22717C>G (n.587-22717C>G) c.539-22717C>G (n.539-22717C>G) c.127C>G (p.Leu43Val) | dbSNP |
9 | g.894046C>T | CA463850346 | DMRT1 | c.673C>T (p.Leu225=) n.822C>T c.199C>T (p.Leu67=) c.721C>T (p.Leu241=) c.587-22717C>T (n.587-22717C>T) c.539-22717C>T (n.539-22717C>T) c.127C>T (p.Leu43=) | |
9 | g.894047T>A | CA372776742 | DMRT1 | c.674T>A (p.Leu225Gln) n.823T>A c.200T>A (p.Leu67Gln) c.722T>A (p.Leu241Gln) c.587-22716T>A (n.587-22716T>A) c.539-22716T>A (n.539-22716T>A) c.128T>A (p.Leu43Gln) | |
9 | g.894047T>C | CA372776743 | DMRT1 | c.674T>C (p.Leu225Pro) n.823T>C c.200T>C (p.Leu67Pro) c.722T>C (p.Leu241Pro) c.587-22716T>C (n.587-22716T>C) c.539-22716T>C (n.539-22716T>C) c.128T>C (p.Leu43Pro) | |
9 | g.894047T>G | CA372776744 | DMRT1 | c.674T>G (p.Leu225Arg) n.823T>G c.200T>G (p.Leu67Arg) c.722T>G (p.Leu241Arg) c.587-22716T>G (n.587-22716T>G) c.539-22716T>G (n.539-22716T>G) c.128T>G (p.Leu43Arg) | |
9 | g.894048A= | CA1827190732 | DMRT1 | c.675A= (p.Leu225=) n.824A= c.201A= (p.Leu67=) c.723A= (p.Leu241=) c.587-22715A= (n.587-22715A=) c.539-22715A= (n.539-22715A=) c.129A= (p.Leu43=) | |
9 | g.894048A>C | CA4961620 | DMRT1 | c.675A>C (p.Leu225=) n.824A>C c.201A>C (p.Leu67=) c.723A>C (p.Leu241=) c.587-22715A>C (n.587-22715A>C) c.539-22715A>C (n.539-22715A>C) c.129A>C (p.Leu43=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.894048A>G | CA187864940 | DMRT1 | c.675A>G (p.Leu225=) n.824A>G c.201A>G (p.Leu67=) c.723A>G (p.Leu241=) c.587-22715A>G (n.587-22715A>G) c.539-22715A>G (n.539-22715A>G) c.129A>G (p.Leu43=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894048A>T | CA463850347 | DMRT1 | c.675A>T (p.Leu225=) n.824A>T c.201A>T (p.Leu67=) c.723A>T (p.Leu241=) c.587-22715A>T (n.587-22715A>T) c.539-22715A>T (n.539-22715A>T) c.129A>T (p.Leu43=) | |
9 | g.894049T>A | CA372776746 | DMRT1 | c.676T>A (p.Tyr226Asn) n.825T>A c.202T>A (p.Tyr68Asn) c.724T>A (p.Tyr242Asn) c.587-22714T>A (n.587-22714T>A) c.539-22714T>A (n.539-22714T>A) c.130T>A (p.Tyr44Asn) | |
9 | g.894049T>C | CA372776748 | DMRT1 | c.676T>C (p.Tyr226His) n.825T>C c.202T>C (p.Tyr68His) c.724T>C (p.Tyr242His) c.587-22714T>C (n.587-22714T>C) c.539-22714T>C (n.539-22714T>C) c.130T>C (p.Tyr44His) | dbSNP gnomAD v4 |
9 | g.894049T>G | CA372776749 | DMRT1 | c.676T>G (p.Tyr226Asp) n.825T>G c.202T>G (p.Tyr68Asp) c.724T>G (p.Tyr242Asp) c.587-22714T>G (n.587-22714T>G) c.539-22714T>G (n.539-22714T>G) c.130T>G (p.Tyr44Asp) | |
9 | g.894049T= | CA1827190736 | DMRT1 | c.676T= (p.Tyr226=) n.825T= c.202T= (p.Tyr68=) c.724T= (p.Tyr242=) c.587-22714T= (n.587-22714T=) c.539-22714T= (n.539-22714T=) c.130T= (p.Tyr44=) | |
9 | g.894050A>C | CA372776752 | DMRT1 | c.677A>C (p.Tyr226Ser) n.826A>C c.203A>C (p.Tyr68Ser) c.725A>C (p.Tyr242Ser) c.587-22713A>C (n.587-22713A>C) c.539-22713A>C (n.539-22713A>C) c.131A>C (p.Tyr44Ser) | |
9 | g.894050A>G | CA372776754 | DMRT1 | c.677A>G (p.Tyr226Cys) n.826A>G c.203A>G (p.Tyr68Cys) c.725A>G (p.Tyr242Cys) c.587-22713A>G (n.587-22713A>G) c.539-22713A>G (n.539-22713A>G) c.131A>G (p.Tyr44Cys) | gnomAD v4 |
9 | g.894050A>T | CA372776751 | DMRT1 | c.677A>T (p.Tyr226Phe) n.826A>T c.203A>T (p.Tyr68Phe) c.725A>T (p.Tyr242Phe) c.587-22713A>T (n.587-22713A>T) c.539-22713A>T (n.539-22713A>T) c.131A>T (p.Tyr44Phe) | |
9 | g.894051C>A | CA372776757 | DMRT1 | c.678C>A (p.Tyr226Ter) n.827C>A c.204C>A (p.Tyr68Ter) c.726C>A (p.Tyr242Ter) c.587-22712C>A (n.587-22712C>A) c.539-22712C>A (n.539-22712C>A) c.132C>A (p.Tyr44Ter) | COSMIC |
9 | g.894051C= | CA1827190739 | DMRT1 | c.678C= (p.Tyr226=) n.827C= c.204C= (p.Tyr68=) c.726C= (p.Tyr242=) c.587-22712C= (n.587-22712C=) c.539-22712C= (n.539-22712C=) c.132C= (p.Tyr44=) | |
9 | g.894051C>G | CA372776755 | DMRT1 | c.678C>G (p.Tyr226Ter) n.827C>G c.204C>G (p.Tyr68Ter) c.726C>G (p.Tyr242Ter) c.587-22712C>G (n.587-22712C>G) c.539-22712C>G (n.539-22712C>G) c.132C>G (p.Tyr44Ter) | |
9 | g.894051C>T | CA463850348 | DMRT1 | c.678C>T (p.Tyr226=) n.827C>T c.204C>T (p.Tyr68=) c.726C>T (p.Tyr242=) c.587-22712C>T (n.587-22712C>T) c.539-22712C>T (n.539-22712C>T) c.132C>T (p.Tyr44=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894052A>C | CA372776761 | DMRT1 | c.679A>C (p.Asn227His) n.828A>C c.205A>C (p.Asn69His) c.727A>C (p.Asn243His) c.587-22711A>C (n.587-22711A>C) c.539-22711A>C (n.539-22711A>C) c.133A>C (p.Asn45His) | |
9 | g.894052A>G | CA372776759 | DMRT1 | c.679A>G (p.Asn227Asp) n.828A>G c.205A>G (p.Asn69Asp) c.727A>G (p.Asn243Asp) c.587-22711A>G (n.587-22711A>G) c.539-22711A>G (n.539-22711A>G) c.133A>G (p.Asn45Asp) | |
9 | g.894052A>T | CA372776760 | DMRT1 | c.679A>T (p.Asn227Tyr) n.828A>T c.205A>T (p.Asn69Tyr) c.727A>T (p.Asn243Tyr) c.587-22711A>T (n.587-22711A>T) c.539-22711A>T (n.539-22711A>T) c.133A>T (p.Asn45Tyr) | COSMIC |
9 | g.894053A= | CA1827190742 | DMRT1 | c.680A= (p.Asn227=) n.829A= c.206A= (p.Asn69=) c.728A= (p.Asn243=) c.587-22710A= (n.587-22710A=) c.539-22710A= (n.539-22710A=) c.134A= (p.Asn45=) | |
9 | g.894053A>C | CA372776763 | DMRT1 | c.680A>C (p.Asn227Thr) n.829A>C c.206A>C (p.Asn69Thr) c.728A>C (p.Asn243Thr) c.587-22710A>C (n.587-22710A>C) c.539-22710A>C (n.539-22710A>C) c.134A>C (p.Asn45Thr) | |
9 | g.894053A>G | CA4961621 | DMRT1 | c.680A>G (p.Asn227Ser) n.829A>G c.206A>G (p.Asn69Ser) c.728A>G (p.Asn243Ser) c.587-22710A>G (n.587-22710A>G) c.539-22710A>G (n.539-22710A>G) c.134A>G (p.Asn45Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894053A>T | CA372776766 | DMRT1 | c.680A>T (p.Asn227Ile) n.829A>T c.206A>T (p.Asn69Ile) c.728A>T (p.Asn243Ile) c.587-22710A>T (n.587-22710A>T) c.539-22710A>T (n.539-22710A>T) c.134A>T (p.Asn45Ile) | |
9 | g.894054C>A | CA372776767 | DMRT1 | c.681C>A (p.Asn227Lys) n.830C>A c.207C>A (p.Asn69Lys) c.729C>A (p.Asn243Lys) c.587-22709C>A (n.587-22709C>A) c.539-22709C>A (n.539-22709C>A) c.135C>A (p.Asn45Lys) | |
9 | g.894054C= | CA1827190743 | DMRT1 | c.681C= (p.Asn227=) n.830C= c.207C= (p.Asn69=) c.729C= (p.Asn243=) c.587-22709C= (n.587-22709C=) c.539-22709C= (n.539-22709C=) c.135C= (p.Asn45=) | |
9 | g.894054C>G | CA372776768 | DMRT1 | c.681C>G (p.Asn227Lys) n.830C>G c.207C>G (p.Asn69Lys) c.729C>G (p.Asn243Lys) c.587-22709C>G (n.587-22709C>G) c.539-22709C>G (n.539-22709C>G) c.135C>G (p.Asn45Lys) | |
9 | g.894054C>T | CA463850349 | DMRT1 | c.681C>T (p.Asn227=) n.830C>T c.207C>T (p.Asn69=) c.729C>T (p.Asn243=) c.587-22709C>T (n.587-22709C>T) c.539-22709C>T (n.539-22709C>T) c.135C>T (p.Asn45=) | dbSNP gnomAD v4 |
9 | g.894055T>A | CA372776773 | DMRT1 | c.682T>A (p.Cys228Ser) n.831T>A c.208T>A (p.Cys70Ser) c.730T>A (p.Cys244Ser) c.587-22708T>A (n.587-22708T>A) c.539-22708T>A (n.539-22708T>A) c.136T>A (p.Cys46Ser) | |
9 | g.894055T>C | CA372776770 | DMRT1 | c.682T>C (p.Cys228Arg) n.831T>C c.208T>C (p.Cys70Arg) c.730T>C (p.Cys244Arg) c.587-22708T>C (n.587-22708T>C) c.539-22708T>C (n.539-22708T>C) c.136T>C (p.Cys46Arg) | COSMIC |
9 | g.894055T>G | CA372776772 | DMRT1 | c.682T>G (p.Cys228Gly) n.831T>G c.208T>G (p.Cys70Gly) c.730T>G (p.Cys244Gly) c.587-22708T>G (n.587-22708T>G) c.539-22708T>G (n.539-22708T>G) c.136T>G (p.Cys46Gly) | |
9 | g.894056G>A | CA372776775 | DMRT1 | c.683G>A (p.Cys228Tyr) n.832G>A c.209G>A (p.Cys70Tyr) c.731G>A (p.Cys244Tyr) c.587-22707G>A (n.587-22707G>A) c.539-22707G>A (n.539-22707G>A) c.137G>A (p.Cys46Tyr) | gnomAD v3 gnomAD v4 |
9 | g.894056G>C | CA372776776 | DMRT1 | c.683G>C (p.Cys228Ser) n.832G>C c.209G>C (p.Cys70Ser) c.731G>C (p.Cys244Ser) c.587-22707G>C (n.587-22707G>C) c.539-22707G>C (n.539-22707G>C) c.137G>C (p.Cys46Ser) | |
9 | g.894056G>T | CA372776778 | DMRT1 | c.683G>T (p.Cys228Phe) n.832G>T c.209G>T (p.Cys70Phe) c.731G>T (p.Cys244Phe) c.587-22707G>T (n.587-22707G>T) c.539-22707G>T (n.539-22707G>T) c.137G>T (p.Cys46Phe) | |
9 | g.894057C>A | CA372776780 | DMRT1 | c.684C>A (p.Cys228Ter) n.833C>A c.210C>A (p.Cys70Ter) c.732C>A (p.Cys244Ter) c.587-22706C>A (n.587-22706C>A) c.539-22706C>A (n.539-22706C>A) c.138C>A (p.Cys46Ter) | |
9 | g.894057C= | CA1827190747 | DMRT1 | c.684C= (p.Cys228=) n.833C= c.210C= (p.Cys70=) c.732C= (p.Cys244=) c.587-22706C= (n.587-22706C=) c.539-22706C= (n.539-22706C=) c.138C= (p.Cys46=) | |
9 | g.894057C>G | CA372776781 | DMRT1 | c.684C>G (p.Cys228Trp) n.833C>G c.210C>G (p.Cys70Trp) c.732C>G (p.Cys244Trp) c.587-22706C>G (n.587-22706C>G) c.539-22706C>G (n.539-22706C>G) c.138C>G (p.Cys46Trp) | |
9 | g.894057C>T | CA187864954 | DMRT1 | c.684C>T (p.Cys228=) n.833C>T c.210C>T (p.Cys70=) c.732C>T (p.Cys244=) c.587-22706C>T (n.587-22706C>T) c.539-22706C>T (n.539-22706C>T) c.138C>T (p.Cys46=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894058C>A | CA4961622 | DMRT1 | c.685C>A (p.Pro229Thr) n.834C>A c.211C>A (p.Pro71Thr) c.733C>A (p.Pro245Thr) c.587-22705C>A (n.587-22705C>A) c.539-22705C>A (n.539-22705C>A) c.139C>A (p.Pro47Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894058C= | CA1827190750 | DMRT1 | c.685C= (p.Pro229=) n.834C= c.211C= (p.Pro71=) c.733C= (p.Pro245=) c.587-22705C= (n.587-22705C=) c.539-22705C= (n.539-22705C=) c.139C= (p.Pro47=) | |
9 | g.894058C>G | CA372776786 | DMRT1 | c.685C>G (p.Pro229Ala) n.834C>G c.211C>G (p.Pro71Ala) c.733C>G (p.Pro245Ala) c.587-22705C>G (n.587-22705C>G) c.539-22705C>G (n.539-22705C>G) c.139C>G (p.Pro47Ala) | |
9 | g.894058C>T | CA372776784 | DMRT1 | c.685C>T (p.Pro229Ser) n.834C>T c.211C>T (p.Pro71Ser) c.733C>T (p.Pro245Ser) c.587-22705C>T (n.587-22705C>T) c.539-22705C>T (n.539-22705C>T) c.139C>T (p.Pro47Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894059C>A | CA4961623 | DMRT1 | c.686C>A (p.Pro229Gln) n.835C>A c.212C>A (p.Pro71Gln) c.734C>A (p.Pro245Gln) c.587-22704C>A (n.587-22704C>A) c.539-22704C>A (n.539-22704C>A) c.140C>A (p.Pro47Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.894059C= | CA1827190752 | DMRT1 | c.686C= (p.Pro229=) n.835C= c.212C= (p.Pro71=) c.734C= (p.Pro245=) c.587-22704C= (n.587-22704C=) c.539-22704C= (n.539-22704C=) c.140C= (p.Pro47=) | |
9 | g.894059C>G | CA372776788 | DMRT1 | c.686C>G (p.Pro229Arg) n.835C>G c.212C>G (p.Pro71Arg) c.734C>G (p.Pro245Arg) c.587-22704C>G (n.587-22704C>G) c.539-22704C>G (n.539-22704C>G) c.140C>G (p.Pro47Arg) | dbSNP |
9 | g.894059C>T | CA372776789 | DMRT1 | c.686C>T (p.Pro229Leu) n.835C>T c.212C>T (p.Pro71Leu) c.734C>T (p.Pro245Leu) c.587-22704C>T (n.587-22704C>T) c.539-22704C>T (n.539-22704C>T) c.140C>T (p.Pro47Leu) | |
9 | g.894060G>A | CA4961624 | DMRT1 | c.687G>A (p.Pro229=) n.836G>A c.213G>A (p.Pro71=) c.735G>A (p.Pro245=) c.587-22703G>A (n.587-22703G>A) c.539-22703G>A (n.539-22703G>A) c.141G>A (p.Pro47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.894060G>C | CA463850350 | DMRT1 | c.687G>C (p.Pro229=) n.836G>C c.213G>C (p.Pro71=) c.735G>C (p.Pro245=) c.587-22703G>C (n.587-22703G>C) c.539-22703G>C (n.539-22703G>C) c.141G>C (p.Pro47=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.894060G= | CA1827190757 | DMRT1 | c.687G= (p.Pro229=) n.836G= c.213G= (p.Pro71=) c.735G= (p.Pro245=) c.587-22703G= (n.587-22703G=) c.539-22703G= (n.539-22703G=) c.141G= (p.Pro47=) | |
9 | g.894060G>T | CA463850351 | DMRT1 | c.687G>T (p.Pro229=) n.836G>T c.213G>T (p.Pro71=) c.735G>T (p.Pro245=) c.587-22703G>T (n.587-22703G>T) c.539-22703G>T (n.539-22703G>T) c.141G>T (p.Pro47=) | |
9 | g.894061C>A | CA372776792 | DMRT1 | c.688C>A (p.Gln230Lys) n.837C>A c.214C>A (p.Gln72Lys) c.736C>A (p.Gln246Lys) c.587-22702C>A (n.587-22702C>A) c.539-22702C>A (n.539-22702C>A) c.142C>A (p.Gln48Lys) | |
9 | g.894061C>G | CA372776794 | DMRT1 | c.688C>G (p.Gln230Glu) n.837C>G c.214C>G (p.Gln72Glu) c.736C>G (p.Gln246Glu) c.587-22702C>G (n.587-22702C>G) c.539-22702C>G (n.539-22702C>G) c.142C>G (p.Gln48Glu) | |
9 | g.894061C>T | CA372776796 | DMRT1 | c.688C>T (p.Gln230Ter) n.837C>T c.214C>T (p.Gln72Ter) c.736C>T (p.Gln246Ter) c.587-22702C>T (n.587-22702C>T) c.539-22702C>T (n.539-22702C>T) c.142C>T (p.Gln48Ter) | |
9 | g.894062A>C | CA372776798 | DMRT1 | c.689A>C (p.Gln230Pro) n.838A>C c.215A>C (p.Gln72Pro) c.737A>C (p.Gln246Pro) c.587-22701A>C (n.587-22701A>C) c.539-22701A>C (n.539-22701A>C) c.143A>C (p.Gln48Pro) | |
9 | g.894062A>G | CA372776799 | DMRT1 | c.689A>G (p.Gln230Arg) n.838A>G c.215A>G (p.Gln72Arg) c.737A>G (p.Gln246Arg) c.587-22701A>G (n.587-22701A>G) c.539-22701A>G (n.539-22701A>G) c.143A>G (p.Gln48Arg) | |
9 | g.894062A>T | CA372776800 | DMRT1 | c.689A>T (p.Gln230Leu) n.838A>T c.215A>T (p.Gln72Leu) c.737A>T (p.Gln246Leu) c.587-22701A>T (n.587-22701A>T) c.539-22701A>T (n.539-22701A>T) c.143A>T (p.Gln48Leu) | |
9 | g.894063G>A | CA463850352 | DMRT1 | c.690G>A (p.Gln230=) n.839G>A c.216G>A (p.Gln72=) c.738G>A (p.Gln246=) c.587-22700G>A (n.587-22700G>A) c.539-22700G>A (n.539-22700G>A) c.144G>A (p.Gln48=) | |
9 | g.894063G>C | CA372776801 | DMRT1 | c.690G>C (p.Gln230His) n.839G>C c.216G>C (p.Gln72His) c.738G>C (p.Gln246His) c.587-22700G>C (n.587-22700G>C) c.539-22700G>C (n.539-22700G>C) c.144G>C (p.Gln48His) | dbSNP gnomAD v4 |
9 | g.894063G= | CA1827190760 | DMRT1 | c.690G= (p.Gln230=) n.839G= c.216G= (p.Gln72=) c.738G= (p.Gln246=) c.587-22700G= (n.587-22700G=) c.539-22700G= (n.539-22700G=) c.144G= (p.Gln48=) | |
9 | g.894063G>T | CA372776802 | DMRT1 | c.690G>T (p.Gln230His) n.839G>T c.216G>T (p.Gln72His) c.738G>T (p.Gln246His) c.587-22700G>T (n.587-22700G>T) c.539-22700G>T (n.539-22700G>T) c.144G>T (p.Gln48His) | |
9 | g.894064T>A | CA372776803 | DMRT1 | c.691T>A (p.Tyr231Asn) n.840T>A c.217T>A (p.Tyr73Asn) c.739T>A (p.Tyr247Asn) c.587-22699T>A (n.587-22699T>A) c.539-22699T>A (n.539-22699T>A) c.145T>A (p.Tyr49Asn) | |
9 | g.894064T>C | CA372776805 | DMRT1 | c.691T>C (p.Tyr231His) n.840T>C c.217T>C (p.Tyr73His) c.739T>C (p.Tyr247His) c.587-22699T>C (n.587-22699T>C) c.539-22699T>C (n.539-22699T>C) c.145T>C (p.Tyr49His) | |
9 | g.894064T>G | CA372776804 | DMRT1 | c.691T>G (p.Tyr231Asp) n.840T>G c.217T>G (p.Tyr73Asp) c.739T>G (p.Tyr247Asp) c.587-22699T>G (n.587-22699T>G) c.539-22699T>G (n.539-22699T>G) c.145T>G (p.Tyr49Asp) | |
9 | g.894065A>C | CA372776807 | DMRT1 | c.692A>C (p.Tyr231Ser) n.841A>C c.218A>C (p.Tyr73Ser) c.740A>C (p.Tyr247Ser) c.587-22698A>C (n.587-22698A>C) c.539-22698A>C (n.539-22698A>C) c.146A>C (p.Tyr49Ser) | gnomAD v4 |
9 | g.894065A>G | CA372776808 | DMRT1 | c.692A>G (p.Tyr231Cys) n.841A>G c.218A>G (p.Tyr73Cys) c.740A>G (p.Tyr247Cys) c.587-22698A>G (n.587-22698A>G) c.539-22698A>G (n.539-22698A>G) c.146A>G (p.Tyr49Cys) | |
9 | g.894065A>T | CA372776809 | DMRT1 | c.692A>T (p.Tyr231Phe) n.841A>T c.218A>T (p.Tyr73Phe) c.740A>T (p.Tyr247Phe) c.587-22698A>T (n.587-22698A>T) c.539-22698A>T (n.539-22698A>T) c.146A>T (p.Tyr49Phe) | |
9 | g.894066C>A | CA372776811 | DMRT1 | c.693C>A (p.Tyr231Ter) n.842C>A c.219C>A (p.Tyr73Ter) c.741C>A (p.Tyr247Ter) c.587-22697C>A (n.587-22697C>A) c.539-22697C>A (n.539-22697C>A) c.147C>A (p.Tyr49Ter) | |
9 | g.894066C= | CA1827190763 | DMRT1 | c.693C= (p.Tyr231=) n.842C= c.219C= (p.Tyr73=) c.741C= (p.Tyr247=) c.587-22697C= (n.587-22697C=) c.539-22697C= (n.539-22697C=) c.147C= (p.Tyr49=) | |
9 | g.894066C>G | CA372776813 | DMRT1 | c.693C>G (p.Tyr231Ter) n.842C>G c.219C>G (p.Tyr73Ter) c.741C>G (p.Tyr247Ter) c.587-22697C>G (n.587-22697C>G) c.539-22697C>G (n.539-22697C>G) c.147C>G (p.Tyr49Ter) | |
9 | g.894066C>T | CA4961625 | DMRT1 | c.693C>T (p.Tyr231=) n.842C>T c.219C>T (p.Tyr73=) c.741C>T (p.Tyr247=) c.587-22697C>T (n.587-22697C>T) c.539-22697C>T (n.539-22697C>T) c.147C>T (p.Tyr49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894067T>A | CA372776815 | DMRT1 | c.694T>A (p.Ser232Thr) n.843T>A c.220T>A (p.Ser74Thr) c.742T>A (p.Ser248Thr) c.587-22696T>A (n.587-22696T>A) c.539-22696T>A (n.539-22696T>A) c.148T>A (p.Ser50Thr) | |
9 | g.894067T>C | CA372776816 | DMRT1 | c.694T>C (p.Ser232Pro) n.843T>C c.220T>C (p.Ser74Pro) c.742T>C (p.Ser248Pro) c.587-22696T>C (n.587-22696T>C) c.539-22696T>C (n.539-22696T>C) c.148T>C (p.Ser50Pro) | |
9 | g.894067T>G | CA372776817 | DMRT1 | c.694T>G (p.Ser232Ala) n.843T>G c.220T>G (p.Ser74Ala) c.742T>G (p.Ser248Ala) c.587-22696T>G (n.587-22696T>G) c.539-22696T>G (n.539-22696T>G) c.148T>G (p.Ser50Ala) | |
9 | g.894068C>A | CA372776820 | DMRT1 | c.695C>A (p.Ser232Tyr) n.844C>A c.221C>A (p.Ser74Tyr) c.743C>A (p.Ser248Tyr) c.587-22695C>A (n.587-22695C>A) c.539-22695C>A (n.539-22695C>A) c.149C>A (p.Ser50Tyr) | |
9 | g.894068C>G | CA372776821 | DMRT1 | c.695C>G (p.Ser232Cys) n.844C>G c.221C>G (p.Ser74Cys) c.743C>G (p.Ser248Cys) c.587-22695C>G (n.587-22695C>G) c.539-22695C>G (n.539-22695C>G) c.149C>G (p.Ser50Cys) | |
9 | g.894068C>T | CA372776823 | DMRT1 | c.695C>T (p.Ser232Phe) n.844C>T c.221C>T (p.Ser74Phe) c.743C>T (p.Ser248Phe) c.587-22695C>T (n.587-22695C>T) c.539-22695C>T (n.539-22695C>T) c.149C>T (p.Ser50Phe) | |
9 | g.894069C>A | CA463850356 | DMRT1 | c.696C>A (p.Ser232=) n.845C>A c.222C>A (p.Ser74=) c.744C>A (p.Ser248=) c.587-22694C>A (n.587-22694C>A) c.539-22694C>A (n.539-22694C>A) c.150C>A (p.Ser50=) | gnomAD v4 |
9 | g.894069C= | CA1827190768 | DMRT1 | c.696C= (p.Ser232=) n.845C= c.222C= (p.Ser74=) c.744C= (p.Ser248=) c.587-22694C= (n.587-22694C=) c.539-22694C= (n.539-22694C=) c.150C= (p.Ser50=) | |
9 | g.894069C>G | CA463850357 | DMRT1 | c.696C>G (p.Ser232=) n.845C>G c.222C>G (p.Ser74=) c.744C>G (p.Ser248=) c.587-22694C>G (n.587-22694C>G) c.539-22694C>G (n.539-22694C>G) c.150C>G (p.Ser50=) | |
9 | g.894069C>T | CA463850358 | DMRT1 | c.696C>T (p.Ser232=) n.845C>T c.222C>T (p.Ser74=) c.744C>T (p.Ser248=) c.587-22694C>T (n.587-22694C>T) c.539-22694C>T (n.539-22694C>T) c.150C>T (p.Ser50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894070A= | CA1827190769 | DMRT1 | c.697A= (p.Met233=) n.846A= c.223A= (p.Met75=) c.745A= (p.Met249=) c.587-22693A= (n.587-22693A=) c.539-22693A= (n.539-22693A=) c.151A= (p.Met51=) | |
9 | g.894070A>C | CA372776827 | DMRT1 | c.697A>C (p.Met233Leu) n.846A>C c.223A>C (p.Met75Leu) c.745A>C (p.Met249Leu) c.587-22693A>C (n.587-22693A>C) c.539-22693A>C (n.539-22693A>C) c.151A>C (p.Met51Leu) | |
9 | g.894070A>G | CA372776824 | DMRT1 | c.697A>G (p.Met233Val) n.846A>G c.223A>G (p.Met75Val) c.745A>G (p.Met249Val) c.587-22693A>G (n.587-22693A>G) c.539-22693A>G (n.539-22693A>G) c.151A>G (p.Met51Val) | dbSNP |
9 | g.894070A>T | CA372776825 | DMRT1 | c.697A>T (p.Met233Leu) n.846A>T c.223A>T (p.Met75Leu) c.745A>T (p.Met249Leu) c.587-22693A>T (n.587-22693A>T) c.539-22693A>T (n.539-22693A>T) c.151A>T (p.Met51Leu) | |
9 | g.894071T>A | CA187864973 | DMRT1 | c.698T>A (p.Met233Lys) n.847T>A c.224T>A (p.Met75Lys) c.746T>A (p.Met249Lys) c.587-22692T>A (n.587-22692T>A) c.539-22692T>A (n.539-22692T>A) c.152T>A (p.Met51Lys) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.894071T>C | CA372776829 | DMRT1 | c.698T>C (p.Met233Thr) n.847T>C c.224T>C (p.Met75Thr) c.746T>C (p.Met249Thr) c.587-22692T>C (n.587-22692T>C) c.539-22692T>C (n.539-22692T>C) c.152T>C (p.Met51Thr) | |
9 | g.894071T>G | CA372776831 | DMRT1 | c.698T>G (p.Met233Arg) n.847T>G c.224T>G (p.Met75Arg) c.746T>G (p.Met249Arg) c.587-22692T>G (n.587-22692T>G) c.539-22692T>G (n.539-22692T>G) c.152T>G (p.Met51Arg) | |
9 | g.894071T= | CA1827190771 | DMRT1 | c.698T= (p.Met233=) n.847T= c.224T= (p.Met75=) c.746T= (p.Met249=) c.587-22692T= (n.587-22692T=) c.539-22692T= (n.539-22692T=) c.152T= (p.Met51=) | |
9 | g.894072G>A | CA372776832 | DMRT1 | c.699G>A (p.Met233Ile) n.848G>A c.225G>A (p.Met75Ile) c.747G>A (p.Met249Ile) c.587-22691G>A (n.587-22691G>A) c.539-22691G>A (n.539-22691G>A) c.153G>A (p.Met51Ile) | gnomAD v4 |
9 | g.894072G>C | CA372776833 | DMRT1 | c.699G>C (p.Met233Ile) n.848G>C c.225G>C (p.Met75Ile) c.747G>C (p.Met249Ile) c.587-22691G>C (n.587-22691G>C) c.539-22691G>C (n.539-22691G>C) c.153G>C (p.Met51Ile) | gnomAD v4 |
9 | g.894072G>T | CA372776835 | DMRT1 | c.699G>T (p.Met233Ile) n.848G>T c.225G>T (p.Met75Ile) c.747G>T (p.Met249Ile) c.587-22691G>T (n.587-22691G>T) c.539-22691G>T (n.539-22691G>T) c.153G>T (p.Met51Ile) | |
9 | g.894073G>A | CA372776836 | DMRT1 | c.700G>A (p.Ala234Thr) n.849G>A c.226G>A (p.Ala76Thr) c.748G>A (p.Ala250Thr) c.587-22690G>A (n.587-22690G>A) c.539-22690G>A (n.539-22690G>A) c.154G>A (p.Ala52Thr) | dbSNP |
9 | g.894073G>C | CA372776838 | DMRT1 | c.700G>C (p.Ala234Pro) n.849G>C c.226G>C (p.Ala76Pro) c.748G>C (p.Ala250Pro) c.587-22690G>C (n.587-22690G>C) c.539-22690G>C (n.539-22690G>C) c.154G>C (p.Ala52Pro) | dbSNP gnomAD v4 |
9 | g.894073G= | CA1827190774 | DMRT1 | c.700G= (p.Ala234=) n.849G= c.226G= (p.Ala76=) c.748G= (p.Ala250=) c.587-22690G= (n.587-22690G=) c.539-22690G= (n.539-22690G=) c.154G= (p.Ala52=) | |
9 | g.894073G>T | CA187864974 | DMRT1 | c.700G>T (p.Ala234Ser) n.849G>T c.226G>T (p.Ala76Ser) c.748G>T (p.Ala250Ser) c.587-22690G>T (n.587-22690G>T) c.539-22690G>T (n.539-22690G>T) c.154G>T (p.Ala52Ser) | dbSNP gnomAD v4 |
9 | g.894074C>A | CA372776839 | DMRT1 | c.701C>A (p.Ala234Asp) n.850C>A c.227C>A (p.Ala76Asp) c.749C>A (p.Ala250Asp) c.587-22689C>A (n.587-22689C>A) c.539-22689C>A (n.539-22689C>A) c.155C>A (p.Ala52Asp) | |
9 | g.894074C= | CA1827190779 | DMRT1 | c.701C= (p.Ala234=) n.850C= c.227C= (p.Ala76=) c.749C= (p.Ala250=) c.587-22689C= (n.587-22689C=) c.539-22689C= (n.539-22689C=) c.155C= (p.Ala52=) | |
9 | g.894074C>G | CA372776841 | DMRT1 | c.701C>G (p.Ala234Gly) n.850C>G c.227C>G (p.Ala76Gly) c.749C>G (p.Ala250Gly) c.587-22689C>G (n.587-22689C>G) c.539-22689C>G (n.539-22689C>G) c.155C>G (p.Ala52Gly) | gnomAD v4 |
9 | g.894074C>T | CA372776843 | DMRT1 | c.701C>T (p.Ala234Val) n.850C>T c.227C>T (p.Ala76Val) c.749C>T (p.Ala250Val) c.587-22689C>T (n.587-22689C>T) c.539-22689C>T (n.539-22689C>T) c.155C>T (p.Ala52Val) | dbSNP gnomAD v4 |
9 | g.894075C>A | CA463850364 | DMRT1 | c.702C>A (p.Ala234=) n.851C>A c.228C>A (p.Ala76=) c.750C>A (p.Ala250=) c.587-22688C>A (n.587-22688C>A) c.539-22688C>A (n.539-22688C>A) c.156C>A (p.Ala52=) | |
9 | g.894075C>G | CA463850365 | DMRT1 | c.702C>G (p.Ala234=) n.851C>G c.228C>G (p.Ala76=) c.750C>G (p.Ala250=) c.587-22688C>G (n.587-22688C>G) c.539-22688C>G (n.539-22688C>G) c.156C>G (p.Ala52=) | gnomAD v4 |
9 | g.894075C>T | CA463850363 | DMRT1 | c.702C>T (p.Ala234=) n.851C>T c.228C>T (p.Ala76=) c.750C>T (p.Ala250=) c.587-22688C>T (n.587-22688C>T) c.539-22688C>T (n.539-22688C>T) c.156C>T (p.Ala52=) | |
9 | g.894076T>A | CA372776844 | DMRT1 | c.703T>A (p.Leu235Met) n.852T>A c.229T>A (p.Leu77Met) c.751T>A (p.Leu251Met) c.587-22687T>A (n.587-22687T>A) c.539-22687T>A (n.539-22687T>A) c.157T>A (p.Leu53Met) | |
9 | g.894076T>C | CA463850368 | DMRT1 | c.703T>C (p.Leu235=) n.852T>C c.229T>C (p.Leu77=) c.751T>C (p.Leu251=) c.587-22687T>C (n.587-22687T>C) c.539-22687T>C (n.539-22687T>C) c.157T>C (p.Leu53=) | COSMIC |
9 | g.894076T>G | CA372776846 | DMRT1 | c.703T>G (p.Leu235Val) n.852T>G c.229T>G (p.Leu77Val) c.751T>G (p.Leu251Val) c.587-22687T>G (n.587-22687T>G) c.539-22687T>G (n.539-22687T>G) c.157T>G (p.Leu53Val) | |
9 | g.894077T>A | CA372776847 | DMRT1 | c.704T>A (p.Leu235Ter) n.853T>A c.230T>A (p.Leu77Ter) c.752T>A (p.Leu251Ter) c.587-22686T>A (n.587-22686T>A) c.539-22686T>A (n.539-22686T>A) c.158T>A (p.Leu53Ter) | |
9 | g.894077T>C | CA372776849 | DMRT1 | c.704T>C (p.Leu235Ser) n.853T>C c.230T>C (p.Leu77Ser) c.752T>C (p.Leu251Ser) c.587-22686T>C (n.587-22686T>C) c.539-22686T>C (n.539-22686T>C) c.158T>C (p.Leu53Ser) | |
9 | g.894077T>G | CA372776848 | DMRT1 | c.704T>G (p.Leu235Trp) n.853T>G c.230T>G (p.Leu77Trp) c.752T>G (p.Leu251Trp) c.587-22686T>G (n.587-22686T>G) c.539-22686T>G (n.539-22686T>G) c.158T>G (p.Leu53Trp) | |
9 | g.894078G>A | CA463850370 | DMRT1 | c.705G>A (p.Leu235=) n.854G>A c.231G>A (p.Leu77=) c.753G>A (p.Leu251=) c.587-22685G>A (n.587-22685G>A) c.539-22685G>A (n.539-22685G>A) c.159G>A (p.Leu53=) | gnomAD v4 |
9 | g.894078G>C | CA372776850 | DMRT1 | c.705G>C (p.Leu235Phe) n.854G>C c.231G>C (p.Leu77Phe) c.753G>C (p.Leu251Phe) c.587-22685G>C (n.587-22685G>C) c.539-22685G>C (n.539-22685G>C) c.159G>C (p.Leu53Phe) | ClinVar gnomAD v4 |
9 | g.894078G>T | CA372776852 | DMRT1 | c.705G>T (p.Leu235Phe) n.854G>T c.231G>T (p.Leu77Phe) c.753G>T (p.Leu251Phe) c.587-22685G>T (n.587-22685G>T) c.539-22685G>T (n.539-22685G>T) c.159G>T (p.Leu53Phe) | |
9 | g.894079G>A | CA372776854 | DMRT1 | c.706G>A (p.Ala236Thr) n.855G>A c.232G>A (p.Ala78Thr) c.754G>A (p.Ala252Thr) c.587-22684G>A (n.587-22684G>A) c.539-22684G>A (n.539-22684G>A) c.160G>A (p.Ala54Thr) | gnomAD v4 |
9 | g.894079G>C | CA372776855 | DMRT1 | c.706G>C (p.Ala236Pro) n.855G>C c.232G>C (p.Ala78Pro) c.754G>C (p.Ala252Pro) c.587-22684G>C (n.587-22684G>C) c.539-22684G>C (n.539-22684G>C) c.160G>C (p.Ala54Pro) | |
9 | g.894079G>T | CA372776857 | DMRT1 | c.706G>T (p.Ala236Ser) n.855G>T c.232G>T (p.Ala78Ser) c.754G>T (p.Ala252Ser) c.587-22684G>T (n.587-22684G>T) c.539-22684G>T (n.539-22684G>T) c.160G>T (p.Ala54Ser) | |
9 | g.894080C>A | CA372776859 | DMRT1 | c.707C>A (p.Ala236Asp) n.856C>A c.233C>A (p.Ala78Asp) c.755C>A (p.Ala252Asp) c.587-22683C>A (n.587-22683C>A) c.539-22683C>A (n.539-22683C>A) c.161C>A (p.Ala54Asp) | |
9 | g.894080C= | CA1827190781 | DMRT1 | c.707C= (p.Ala236=) n.856C= c.233C= (p.Ala78=) c.755C= (p.Ala252=) c.587-22683C= (n.587-22683C=) c.539-22683C= (n.539-22683C=) c.161C= (p.Ala54=) | |
9 | g.894080C>G | CA372776860 | DMRT1 | c.707C>G (p.Ala236Gly) n.856C>G c.233C>G (p.Ala78Gly) c.755C>G (p.Ala252Gly) c.587-22683C>G (n.587-22683C>G) c.539-22683C>G (n.539-22683C>G) c.161C>G (p.Ala54Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894080C>T | CA372776862 | DMRT1 | c.707C>T (p.Ala236Val) n.856C>T c.233C>T (p.Ala78Val) c.755C>T (p.Ala252Val) c.587-22683C>T (n.587-22683C>T) c.539-22683C>T (n.539-22683C>T) c.161C>T (p.Ala54Val) | gnomAD v4 |
9 | g.894081T>A | CA463850374 | DMRT1 | c.708T>A (p.Ala236=) n.857T>A c.234T>A (p.Ala78=) c.756T>A (p.Ala252=) c.587-22682T>A (n.587-22682T>A) c.539-22682T>A (n.539-22682T>A) c.162T>A (p.Ala54=) | |
9 | g.894081T>C | CA463850376 | DMRT1 | c.708T>C (p.Ala236=) n.857T>C c.234T>C (p.Ala78=) c.756T>C (p.Ala252=) c.587-22682T>C (n.587-22682T>C) c.539-22682T>C (n.539-22682T>C) c.162T>C (p.Ala54=) | |
9 | g.894081T>G | CA463850375 | DMRT1 | c.708T>G (p.Ala236=) n.857T>G c.234T>G (p.Ala78=) c.756T>G (p.Ala252=) c.587-22682T>G (n.587-22682T>G) c.539-22682T>G (n.539-22682T>G) c.162T>G (p.Ala54=) | |
9 | g.894082G>A | CA372776864 | DMRT1 | c.709G>A (p.Ala237Thr) n.858G>A c.235G>A (p.Ala79Thr) c.757G>A (p.Ala253Thr) c.587-22681G>A (n.587-22681G>A) c.539-22681G>A (n.539-22681G>A) c.163G>A (p.Ala55Thr) | dbSNP gnomAD v4 |
9 | g.894082G>C | CA372776866 | DMRT1 | c.709G>C (p.Ala237Pro) n.858G>C c.235G>C (p.Ala79Pro) c.757G>C (p.Ala253Pro) c.587-22681G>C (n.587-22681G>C) c.539-22681G>C (n.539-22681G>C) c.163G>C (p.Ala55Pro) | |
9 | g.894082G= | CA1827190783 | DMRT1 | c.709G= (p.Ala237=) n.858G= c.235G= (p.Ala79=) c.757G= (p.Ala253=) c.587-22681G= (n.587-22681G=) c.539-22681G= (n.539-22681G=) c.163G= (p.Ala55=) | |
9 | g.894082G>T | CA372776867 | DMRT1 | c.709G>T (p.Ala237Ser) n.858G>T c.235G>T (p.Ala79Ser) c.757G>T (p.Ala253Ser) c.587-22681G>T (n.587-22681G>T) c.539-22681G>T (n.539-22681G>T) c.163G>T (p.Ala55Ser) | |
9 | g.894083C>A | CA372776871 | DMRT1 | c.710C>A (p.Ala237Asp) n.859C>A c.236C>A (p.Ala79Asp) c.758C>A (p.Ala253Asp) c.587-22680C>A (n.587-22680C>A) c.539-22680C>A (n.539-22680C>A) c.164C>A (p.Ala55Asp) | |
9 | g.894083C>G | CA372776869 | DMRT1 | c.710C>G (p.Ala237Gly) n.859C>G c.236C>G (p.Ala79Gly) c.758C>G (p.Ala253Gly) c.587-22680C>G (n.587-22680C>G) c.539-22680C>G (n.539-22680C>G) c.164C>G (p.Ala55Gly) | gnomAD v4 |
9 | g.894083C>T | CA372776868 | DMRT1 | c.710C>T (p.Ala237Val) n.859C>T c.236C>T (p.Ala79Val) c.758C>T (p.Ala253Val) c.587-22680C>T (n.587-22680C>T) c.539-22680C>T (n.539-22680C>T) c.164C>T (p.Ala55Val) | |
9 | g.894084T>A | CA463850378 | DMRT1 | c.711T>A (p.Ala237=) n.860T>A c.237T>A (p.Ala79=) c.759T>A (p.Ala253=) c.587-22679T>A (n.587-22679T>A) c.539-22679T>A (n.539-22679T>A) c.165T>A (p.Ala55=) | |
9 | g.894084T>C | CA463850379 | DMRT1 | c.711T>C (p.Ala237=) n.860T>C c.237T>C (p.Ala79=) c.759T>C (p.Ala253=) c.587-22679T>C (n.587-22679T>C) c.539-22679T>C (n.539-22679T>C) c.165T>C (p.Ala55=) | |
9 | g.894084T>G | CA4961626 | DMRT1 | c.711T>G (p.Ala237=) n.860T>G c.237T>G (p.Ala79=) c.759T>G (p.Ala253=) c.587-22679T>G (n.587-22679T>G) c.539-22679T>G (n.539-22679T>G) c.165T>G (p.Ala55=) | dbSNP ExAC gnomAD v2 |
9 | g.894084T= | CA1827190785 | DMRT1 | c.711T= (p.Ala237=) n.860T= c.237T= (p.Ala79=) c.759T= (p.Ala253=) c.587-22679T= (n.587-22679T=) c.539-22679T= (n.539-22679T=) c.165T= (p.Ala55=) | |
9 | g.894085G>A | CA372776873 | DMRT1 | c.712G>A (p.Asp238Asn) n.861G>A c.238G>A (p.Asp80Asn) c.760G>A (p.Asp254Asn) c.587-22678G>A (n.587-22678G>A) c.539-22678G>A (n.539-22678G>A) c.166G>A (p.Asp56Asn) | |
9 | g.894085G>C | CA372776874 | DMRT1 | c.712G>C (p.Asp238His) n.861G>C c.238G>C (p.Asp80His) c.760G>C (p.Asp254His) c.587-22678G>C (n.587-22678G>C) c.539-22678G>C (n.539-22678G>C) c.166G>C (p.Asp56His) | |
9 | g.894085G>T | CA372776875 | DMRT1 | c.712G>T (p.Asp238Tyr) n.861G>T c.238G>T (p.Asp80Tyr) c.760G>T (p.Asp254Tyr) c.587-22678G>T (n.587-22678G>T) c.539-22678G>T (n.539-22678G>T) c.166G>T (p.Asp56Tyr) | |
9 | g.894086A>C | CA372776878 | DMRT1 | c.713A>C (p.Asp238Ala) n.862A>C c.239A>C (p.Asp80Ala) c.761A>C (p.Asp254Ala) c.587-22677A>C (n.587-22677A>C) c.539-22677A>C (n.539-22677A>C) c.167A>C (p.Asp56Ala) | |
9 | g.894086A>G | CA372776879 | DMRT1 | c.713A>G (p.Asp238Gly) n.862A>G c.239A>G (p.Asp80Gly) c.761A>G (p.Asp254Gly) c.587-22677A>G (n.587-22677A>G) c.539-22677A>G (n.539-22677A>G) c.167A>G (p.Asp56Gly) | gnomAD v4 |
9 | g.894086A>T | CA372776881 | DMRT1 | c.713A>T (p.Asp238Val) n.862A>T c.239A>T (p.Asp80Val) c.761A>T (p.Asp254Val) c.587-22677A>T (n.587-22677A>T) c.539-22677A>T (n.539-22677A>T) c.167A>T (p.Asp56Val) | |
9 | g.894087T>A | CA372776882 | DMRT1 | c.714T>A (p.Asp238Glu) n.863T>A c.240T>A (p.Asp80Glu) c.762T>A (p.Asp254Glu) c.587-22676T>A (n.587-22676T>A) c.539-22676T>A (n.539-22676T>A) c.168T>A (p.Asp56Glu) | |
9 | g.894087T>C | CA463850382 | DMRT1 | c.714T>C (p.Asp238=) n.863T>C c.240T>C (p.Asp80=) c.762T>C (p.Asp254=) c.587-22676T>C (n.587-22676T>C) c.539-22676T>C (n.539-22676T>C) c.168T>C (p.Asp56=) | |
9 | g.894087T>G | CA372776883 | DMRT1 | c.714T>G (p.Asp238Glu) n.863T>G c.240T>G (p.Asp80Glu) c.762T>G (p.Asp254Glu) c.587-22676T>G (n.587-22676T>G) c.539-22676T>G (n.539-22676T>G) c.168T>G (p.Asp56Glu) | |
9 | g.894088T>A | CA372776885 | DMRT1 | c.715T>A (p.Ser239Thr) n.864T>A c.241T>A (p.Ser81Thr) c.763T>A (p.Ser255Thr) c.587-22675T>A (n.587-22675T>A) c.539-22675T>A (n.539-22675T>A) c.169T>A (p.Ser57Thr) | |
9 | g.894088T>C | CA372776887 | DMRT1 | c.715T>C (p.Ser239Pro) n.864T>C c.241T>C (p.Ser81Pro) c.763T>C (p.Ser255Pro) c.587-22675T>C (n.587-22675T>C) c.539-22675T>C (n.539-22675T>C) c.169T>C (p.Ser57Pro) | |
9 | g.894088T>G | CA372776889 | DMRT1 | c.715T>G (p.Ser239Ala) n.864T>G c.241T>G (p.Ser81Ala) c.763T>G (p.Ser255Ala) c.587-22675T>G (n.587-22675T>G) c.539-22675T>G (n.539-22675T>G) c.169T>G (p.Ser57Ala) | |
9 | g.894089C>A | CA372776893 | DMRT1 | c.716C>A (p.Ser239Tyr) n.865C>A c.242C>A (p.Ser81Tyr) c.764C>A (p.Ser255Tyr) c.587-22674C>A (n.587-22674C>A) c.539-22674C>A (n.539-22674C>A) c.170C>A (p.Ser57Tyr) | |
9 | g.894089C= | CA1827190789 | DMRT1 | c.716C= (p.Ser239=) n.865C= c.242C= (p.Ser81=) c.764C= (p.Ser255=) c.587-22674C= (n.587-22674C=) c.539-22674C= (n.539-22674C=) c.170C= (p.Ser57=) | |
9 | g.894089C>G | CA372776892 | DMRT1 | c.716C>G (p.Ser239Cys) n.865C>G c.242C>G (p.Ser81Cys) c.764C>G (p.Ser255Cys) c.587-22674C>G (n.587-22674C>G) c.539-22674C>G (n.539-22674C>G) c.170C>G (p.Ser57Cys) | |
9 | g.894089C>T | CA187864981 | DMRT1 | c.716C>T (p.Ser239Phe) n.865C>T c.242C>T (p.Ser81Phe) c.764C>T (p.Ser255Phe) c.587-22674C>T (n.587-22674C>T) c.539-22674C>T (n.539-22674C>T) c.170C>T (p.Ser57Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894090T>A | CA463850389 | DMRT1 | c.717T>A (p.Ser239=) n.866T>A c.243T>A (p.Ser81=) c.765T>A (p.Ser255=) c.587-22673T>A (n.587-22673T>A) c.539-22673T>A (n.539-22673T>A) c.171T>A (p.Ser57=) | |
9 | g.894090T>C | CA4961628 | DMRT1 | c.717T>C (p.Ser239=) n.866T>C c.243T>C (p.Ser81=) c.765T>C (p.Ser255=) c.587-22673T>C (n.587-22673T>C) c.539-22673T>C (n.539-22673T>C) c.171T>C (p.Ser57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894090T>G | CA4961627 | DMRT1 | c.717T>G (p.Ser239=) n.866T>G c.243T>G (p.Ser81=) c.765T>G (p.Ser255=) c.587-22673T>G (n.587-22673T>G) c.539-22673T>G (n.539-22673T>G) c.171T>G (p.Ser57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.894090T= | CA1827190791 | DMRT1 | c.717T= (p.Ser239=) n.866T= c.243T= (p.Ser81=) c.765T= (p.Ser255=) c.587-22673T= (n.587-22673T=) c.539-22673T= (n.539-22673T=) c.171T= (p.Ser57=) | |
9 | g.894091G>A | CA372776896 | DMRT1 | c.718G>A (p.Ala240Thr) n.867G>A c.244G>A (p.Ala82Thr) c.766G>A (p.Ala256Thr) c.587-22672G>A (n.587-22672G>A) c.539-22672G>A (n.539-22672G>A) c.172G>A (p.Ala58Thr) | |
9 | g.894091G>C | CA4961629 | DMRT1 | c.718G>C (p.Ala240Pro) n.867G>C c.244G>C (p.Ala82Pro) c.766G>C (p.Ala256Pro) c.587-22672G>C (n.587-22672G>C) c.539-22672G>C (n.539-22672G>C) c.172G>C (p.Ala58Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894091G= | CA1827190794 | DMRT1 | c.718G= (p.Ala240=) n.867G= c.244G= (p.Ala82=) c.766G= (p.Ala256=) c.587-22672G= (n.587-22672G=) c.539-22672G= (n.539-22672G=) c.172G= (p.Ala58=) | |
9 | g.894091G>T | CA372776898 | DMRT1 | c.718G>T (p.Ala240Ser) n.867G>T c.244G>T (p.Ala82Ser) c.766G>T (p.Ala256Ser) c.587-22672G>T (n.587-22672G>T) c.539-22672G>T (n.539-22672G>T) c.172G>T (p.Ala58Ser) | |
9 | g.894092C>A | CA372776903 | DMRT1 | c.719C>A (p.Ala240Asp) n.868C>A c.245C>A (p.Ala82Asp) c.767C>A (p.Ala256Asp) c.587-22671C>A (n.587-22671C>A) c.539-22671C>A (n.539-22671C>A) c.173C>A (p.Ala58Asp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894092C= | CA1827190798 | DMRT1 | c.719C= (p.Ala240=) n.868C= c.245C= (p.Ala82=) c.767C= (p.Ala256=) c.587-22671C= (n.587-22671C=) c.539-22671C= (n.539-22671C=) c.173C= (p.Ala58=) | |
9 | g.894092C>G | CA372776902 | DMRT1 | c.719C>G (p.Ala240Gly) n.868C>G c.245C>G (p.Ala82Gly) c.767C>G (p.Ala256Gly) c.587-22671C>G (n.587-22671C>G) c.539-22671C>G (n.539-22671C>G) c.173C>G (p.Ala58Gly) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894092C>T | CA372776900 | DMRT1 | c.719C>T (p.Ala240Val) n.868C>T c.245C>T (p.Ala82Val) c.767C>T (p.Ala256Val) c.587-22671C>T (n.587-22671C>T) c.539-22671C>T (n.539-22671C>T) c.173C>T (p.Ala58Val) | gnomAD v4 |
9 | g.894093T>A | CA463850395 | DMRT1 | c.720T>A (p.Ala240=) n.869T>A c.246T>A (p.Ala82=) c.768T>A (p.Ala256=) c.587-22670T>A (n.587-22670T>A) c.539-22670T>A (n.539-22670T>A) c.174T>A (p.Ala58=) | |
9 | g.894093T>C | CA463850396 | DMRT1 | c.720T>C (p.Ala240=) n.869T>C c.246T>C (p.Ala82=) c.768T>C (p.Ala256=) c.587-22670T>C (n.587-22670T>C) c.539-22670T>C (n.539-22670T>C) c.174T>C (p.Ala58=) | gnomAD v4 |
9 | g.894093T>G | CA463850398 | DMRT1 | c.720T>G (p.Ala240=) n.869T>G c.246T>G (p.Ala82=) c.768T>G (p.Ala256=) c.587-22670T>G (n.587-22670T>G) c.539-22670T>G (n.539-22670T>G) c.174T>G (p.Ala58=) | |
9 | g.894094T>A | CA372776905 | DMRT1 | c.721T>A (p.Ser241Thr) n.870T>A c.247T>A (p.Ser83Thr) c.769T>A (p.Ser257Thr) c.587-22669T>A (n.587-22669T>A) c.539-22669T>A (n.539-22669T>A) c.175T>A (p.Ser59Thr) | |
9 | g.894094T>C | CA372776906 | DMRT1 | c.721T>C (p.Ser241Pro) n.870T>C c.247T>C (p.Ser83Pro) c.769T>C (p.Ser257Pro) c.587-22669T>C (n.587-22669T>C) c.539-22669T>C (n.539-22669T>C) c.175T>C (p.Ser59Pro) | |
9 | g.894094T>G | CA372776907 | DMRT1 | c.721T>G (p.Ser241Ala) n.870T>G c.247T>G (p.Ser83Ala) c.769T>G (p.Ser257Ala) c.587-22669T>G (n.587-22669T>G) c.539-22669T>G (n.539-22669T>G) c.175T>G (p.Ser59Ala) | |
9 | g.894095C>A | CA187864988 | DMRT1 | c.722C>A (p.Ser241Tyr) n.871C>A c.248C>A (p.Ser83Tyr) c.770C>A (p.Ser257Tyr) c.587-22668C>A (n.587-22668C>A) c.539-22668C>A (n.539-22668C>A) c.176C>A (p.Ser59Tyr) | dbSNP |
9 | g.894095C= | CA1827190801 | DMRT1 | c.722C= (p.Ser241=) n.871C= c.248C= (p.Ser83=) c.770C= (p.Ser257=) c.587-22668C= (n.587-22668C=) c.539-22668C= (n.539-22668C=) c.176C= (p.Ser59=) | |
9 | g.894095C>G | CA372776910 | DMRT1 | c.722C>G (p.Ser241Cys) n.871C>G c.248C>G (p.Ser83Cys) c.770C>G (p.Ser257Cys) c.587-22668C>G (n.587-22668C>G) c.539-22668C>G (n.539-22668C>G) c.176C>G (p.Ser59Cys) | dbSNP |
9 | g.894095C>T | CA372776911 | DMRT1 | c.722C>T (p.Ser241Phe) n.871C>T c.248C>T (p.Ser83Phe) c.770C>T (p.Ser257Phe) c.587-22668C>T (n.587-22668C>T) c.539-22668C>T (n.539-22668C>T) c.176C>T (p.Ser59Phe) | |
9 | g.894096T>A | CA463850403 | DMRT1 | c.723T>A (p.Ser241=) n.872T>A c.249T>A (p.Ser83=) c.771T>A (p.Ser257=) c.587-22667T>A (n.587-22667T>A) c.539-22667T>A (n.539-22667T>A) c.177T>A (p.Ser59=) | |
9 | g.894096T>C | CA463850406 | DMRT1 | c.723T>C (p.Ser241=) n.872T>C c.249T>C (p.Ser83=) c.771T>C (p.Ser257=) c.587-22667T>C (n.587-22667T>C) c.539-22667T>C (n.539-22667T>C) c.177T>C (p.Ser59=) | |
9 | g.894096T>G | CA463850405 | DMRT1 | c.723T>G (p.Ser241=) n.872T>G c.249T>G (p.Ser83=) c.771T>G (p.Ser257=) c.587-22667T>G (n.587-22667T>G) c.539-22667T>G (n.539-22667T>G) c.177T>G (p.Ser59=) | |
9 | g.894097G>A | CA372776913 | DMRT1 | c.724G>A (p.Gly242Arg) n.873G>A c.250G>A (p.Gly84Arg) c.772G>A (p.Gly258Arg) c.587-22666G>A (n.587-22666G>A) c.539-22666G>A (n.539-22666G>A) c.178G>A (p.Gly60Arg) | |
9 | g.894097G>C | CA372776916 | DMRT1 | c.724G>C (p.Gly242Arg) n.873G>C c.250G>C (p.Gly84Arg) c.772G>C (p.Gly258Arg) c.587-22666G>C (n.587-22666G>C) c.539-22666G>C (n.539-22666G>C) c.178G>C (p.Gly60Arg) | |
9 | g.894097G= | CA1827190803 | DMRT1 | c.724G= (p.Gly242=) n.873G= c.250G= (p.Gly84=) c.772G= (p.Gly258=) c.587-22666G= (n.587-22666G=) c.539-22666G= (n.539-22666G=) c.178G= (p.Gly60=) | |
9 | g.894097G>T | CA372776914 | DMRT1 | c.724G>T (p.Gly242Trp) n.873G>T c.250G>T (p.Gly84Trp) c.772G>T (p.Gly258Trp) c.587-22666G>T (n.587-22666G>T) c.539-22666G>T (n.539-22666G>T) c.178G>T (p.Gly60Trp) | dbSNP |
9 | g.894098G>A | CA372776918 | DMRT1 | c.725G>A (p.Gly242Glu) n.874G>A c.251G>A (p.Gly84Glu) c.773G>A (p.Gly258Glu) c.587-22665G>A (n.587-22665G>A) c.539-22665G>A (n.539-22665G>A) c.179G>A (p.Gly60Glu) | |
9 | g.894098G>C | CA372776919 | DMRT1 | c.725G>C (p.Gly242Ala) n.874G>C c.251G>C (p.Gly84Ala) c.773G>C (p.Gly258Ala) c.587-22665G>C (n.587-22665G>C) c.539-22665G>C (n.539-22665G>C) c.179G>C (p.Gly60Ala) | gnomAD v4 |
9 | g.894098G>T | CA372776920 | DMRT1 | c.725G>T (p.Gly242Val) n.874G>T c.251G>T (p.Gly84Val) c.773G>T (p.Gly258Val) c.587-22665G>T (n.587-22665G>T) c.539-22665G>T (n.539-22665G>T) c.179G>T (p.Gly60Val) | |
9 | g.894099G>A | CA463850412 | DMRT1 | c.726G>A (p.Gly242=) n.875G>A c.252G>A (p.Gly84=) c.774G>A (p.Gly258=) c.587-22664G>A (n.587-22664G>A) c.539-22664G>A (n.539-22664G>A) c.180G>A (p.Gly60=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.894099G>C | CA463850413 | DMRT1 | c.726G>C (p.Gly242=) n.875G>C c.252G>C (p.Gly84=) c.774G>C (p.Gly258=) c.587-22664G>C (n.587-22664G>C) c.539-22664G>C (n.539-22664G>C) c.180G>C (p.Gly60=) | |
9 | g.894099G= | CA1827190806 | DMRT1 | c.726G= (p.Gly242=) n.875G= c.252G= (p.Gly84=) c.774G= (p.Gly258=) c.587-22664G= (n.587-22664G=) c.539-22664G= (n.539-22664G=) c.180G= (p.Gly60=) | |
9 | g.894099G>T | CA463850414 | DMRT1 | c.726G>T (p.Gly242=) n.875G>T c.252G>T (p.Gly84=) c.774G>T (p.Gly258=) c.587-22664G>T (n.587-22664G>T) c.539-22664G>T (n.539-22664G>T) c.180G>T (p.Gly60=) | |
9 | g.894100G>A | CA4961630 | DMRT1 | c.727G>A (p.Glu243Lys) n.876G>A c.253G>A (p.Glu85Lys) c.775G>A (p.Glu259Lys) c.587-22663G>A (n.587-22663G>A) c.539-22663G>A (n.539-22663G>A) c.181G>A (p.Glu61Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894100G>C | CA372776922 | DMRT1 | c.727G>C (p.Glu243Gln) n.876G>C c.253G>C (p.Glu85Gln) c.775G>C (p.Glu259Gln) c.587-22663G>C (n.587-22663G>C) c.539-22663G>C (n.539-22663G>C) c.181G>C (p.Glu61Gln) | |
9 | g.894100G= | CA1827190808 | DMRT1 | c.727G= (p.Glu243=) n.876G= c.253G= (p.Glu85=) c.775G= (p.Glu259=) c.587-22663G= (n.587-22663G=) c.539-22663G= (n.539-22663G=) c.181G= (p.Glu61=) | |
9 | g.894100G>T | CA372776924 | DMRT1 | c.727G>T (p.Glu243Ter) n.876G>T c.253G>T (p.Glu85Ter) c.775G>T (p.Glu259Ter) c.587-22663G>T (n.587-22663G>T) c.539-22663G>T (n.539-22663G>T) c.181G>T (p.Glu61Ter) | |
9 | g.894101A>C | CA372776926 | DMRT1 | c.728A>C (p.Glu243Ala) n.877A>C c.254A>C (p.Glu85Ala) c.776A>C (p.Glu259Ala) c.587-22662A>C (n.587-22662A>C) c.539-22662A>C (n.539-22662A>C) c.182A>C (p.Glu61Ala) | |
9 | g.894101A>G | CA372776927 | DMRT1 | c.728A>G (p.Glu243Gly) n.877A>G c.254A>G (p.Glu85Gly) c.776A>G (p.Glu259Gly) c.587-22662A>G (n.587-22662A>G) c.539-22662A>G (n.539-22662A>G) c.182A>G (p.Glu61Gly) | |
9 | g.894101A>T | CA372776928 | DMRT1 | c.728A>T (p.Glu243Val) n.877A>T c.254A>T (p.Glu85Val) c.776A>T (p.Glu259Val) c.587-22662A>T (n.587-22662A>T) c.539-22662A>T (n.539-22662A>T) c.182A>T (p.Glu61Val) | |
9 | g.894102G>A | CA463850417 | DMRT1 | c.729G>A (p.Glu243=) n.878G>A c.255G>A (p.Glu85=) c.777G>A (p.Glu259=) c.587-22661G>A (n.587-22661G>A) c.539-22661G>A (n.539-22661G>A) c.183G>A (p.Glu61=) | dbSNP gnomAD v4 |
9 | g.894102G>C | CA372776930 | DMRT1 | c.729G>C (p.Glu243Asp) n.878G>C c.255G>C (p.Glu85Asp) c.777G>C (p.Glu259Asp) c.587-22661G>C (n.587-22661G>C) c.539-22661G>C (n.539-22661G>C) c.183G>C (p.Glu61Asp) | |
9 | g.894102G= | CA1827190811 | DMRT1 | c.729G= (p.Glu243=) n.878G= c.255G= (p.Glu85=) c.777G= (p.Glu259=) c.587-22661G= (n.587-22661G=) c.539-22661G= (n.539-22661G=) c.183G= (p.Glu61=) | |
9 | g.894102G>T | CA372776932 | DMRT1 | c.729G>T (p.Glu243Asp) n.878G>T c.255G>T (p.Glu85Asp) c.777G>T (p.Glu259Asp) c.587-22661G>T (n.587-22661G>T) c.539-22661G>T (n.539-22661G>T) c.183G>T (p.Glu61Asp) | |
9 | g.894103G>A | CA4961632 | DMRT1 | c.730G>A (p.Val244Met) n.879G>A c.256G>A (p.Val86Met) c.778G>A (p.Val260Met) c.587-22660G>A (n.587-22660G>A) c.539-22660G>A (n.539-22660G>A) c.184G>A (p.Val62Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.894103G>C | CA4961631 | DMRT1 | c.730G>C (p.Val244Leu) n.879G>C c.256G>C (p.Val86Leu) c.778G>C (p.Val260Leu) c.587-22660G>C (n.587-22660G>C) c.539-22660G>C (n.539-22660G>C) c.184G>C (p.Val62Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.894103G= | CA1827190813 | DMRT1 | c.730G= (p.Val244=) n.879G= c.256G= (p.Val86=) c.778G= (p.Val260=) c.587-22660G= (n.587-22660G=) c.539-22660G= (n.539-22660G=) c.184G= (p.Val62=) | |
9 | g.894103G>T | CA372776933 | DMRT1 | c.730G>T (p.Val244Leu) n.879G>T c.256G>T (p.Val86Leu) c.778G>T (p.Val260Leu) c.587-22660G>T (n.587-22660G>T) c.539-22660G>T (n.539-22660G>T) c.184G>T (p.Val62Leu) | |
9 | g.894104T>A | CA372776934 | DMRT1 | c.731T>A (p.Val244Glu) n.880T>A c.257T>A (p.Val86Glu) c.779T>A (p.Val260Glu) c.587-22659T>A (n.587-22659T>A) c.539-22659T>A (n.539-22659T>A) c.185T>A (p.Val62Glu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.894104T>C | CA372776937 | DMRT1 | c.731T>C (p.Val244Ala) n.880T>C c.257T>C (p.Val86Ala) c.779T>C (p.Val260Ala) c.587-22659T>C (n.587-22659T>C) c.539-22659T>C (n.539-22659T>C) c.185T>C (p.Val62Ala) | |
9 | g.894104T>G | CA372776936 | DMRT1 | c.731T>G (p.Val244Gly) n.880T>G c.257T>G (p.Val86Gly) c.779T>G (p.Val260Gly) c.587-22659T>G (n.587-22659T>G) c.539-22659T>G (n.539-22659T>G) c.185T>G (p.Val62Gly) | dbSNP |
9 | g.894104T= | CA1827190816 | DMRT1 | c.731T= (p.Val244=) n.880T= c.257T= (p.Val86=) c.779T= (p.Val260=) c.587-22659T= (n.587-22659T=) c.539-22659T= (n.539-22659T=) c.185T= (p.Val62=) | |
9 | g.894105G>A | CA463850426 | DMRT1 | c.732G>A (p.Val244=) n.881G>A c.258G>A (p.Val86=) c.780G>A (p.Val260=) c.587-22658G>A (n.587-22658G>A) c.539-22658G>A (n.539-22658G>A) c.186G>A (p.Val62=) | |
9 | g.894105G>C | CA463850427 | DMRT1 | c.732G>C (p.Val244=) n.881G>C c.258G>C (p.Val86=) c.780G>C (p.Val260=) c.587-22658G>C (n.587-22658G>C) c.539-22658G>C (n.539-22658G>C) c.186G>C (p.Val62=) | gnomAD v4 |
9 | g.894105G>T | CA463850428 | DMRT1 | c.732G>T (p.Val244=) n.881G>T c.258G>T (p.Val86=) c.780G>T (p.Val260=) c.587-22658G>T (n.587-22658G>T) c.539-22658G>T (n.539-22658G>T) c.186G>T (p.Val62=) | |
9 | g.894106G>A | CA372776939 | DMRT1 | c.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 |
9 | g.894106G>C | CA372776940 | DMRT1 | c.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) | |
9 | g.894106G>T | CA372776942 | DMRT1 | c.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) | |
9 | g.894107G>A | CA4961633 | DMRT1 | c.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 |
9 | g.894107G>C | CA372776944 | DMRT1 | c.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) | |
9 | g.894107G= | CA1827190817 | DMRT1 | c.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=) | |
9 | g.894107G>T | CA372776946 | DMRT1 | c.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) | |
9 | g.894108A= | CA1827190819 | DMRT1 | c.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=) | |
9 | g.894108A>C | CA463850437 | DMRT1 | c.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 |
9 | g.894108A>G | CA4961634 | DMRT1 | c.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 |
9 | g.894108A>T | CA463850438 | DMRT1 | c.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=) | |
9 | g.894109A= | CA1827190821 | DMRT1 | c.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=) | |
9 | g.894109A>C | CA372776948 | DMRT1 | c.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 |
9 | g.894109A>G | CA372776950 | DMRT1 | c.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 |
9 | g.894109A>T | CA372776951 | DMRT1 | c.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) | |
9 | g.894110A= | CA1827190823 | DMRT1 | c.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=) | |
9 | g.894110A>C | CA372776953 | DMRT1 | c.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) | |
9 | g.894110A>G | CA372776955 | DMRT1 | c.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 |
9 | g.894110A>T | CA372776957 | DMRT1 | c.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) | |
9 | g.894111T>A | CA372776959 | DMRT1 | c.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 |
9 | g.894111T>C | CA463850444 | DMRT1 | c.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=) | |
9 | g.894111T>G | CA372776958 | DMRT1 | c.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) | |
9 | g.894112C>A | CA372776960 | DMRT1 | c.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 |
9 | g.894112C= | CA1827190824 | DMRT1 | c.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=) | |
9 | g.894112C>G | CA372776961 | DMRT1 | c.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 |
9 | g.894112C>T | CA372776962 | DMRT1 | c.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 |
9 | g.894113C>A | CA372776963 | DMRT1 | c.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) | |
9 | g.894113C>G | CA372776964 | DMRT1 | c.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) | |
9 | g.894113C>T | CA372776966 | DMRT1 | c.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) | |
9 | g.894114C>A | CA463850454 | DMRT1 | c.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=) | |
9 | g.894114C= | CA1827190827 | DMRT1 | c.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=) | |
9 | g.894114C>G | CA463850455 | DMRT1 | c.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 |
9 | g.894114C>T | CA463850456 | DMRT1 | c.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 |
9 | g.894115C>A | CA372776968 | DMRT1 | c.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) | |
9 | g.894115C>G | CA372776969 | DMRT1 | c.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) | |
9 | g.894115C>T | CA372776971 | DMRT1 | c.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) | |
9 | g.894116T>A | CA372776973 | DMRT1 | c.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) | |
9 | g.894116T>C | CA372776975 | DMRT1 | c.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) | |
9 | g.894116T>G | CA372776976 | DMRT1 | c.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) | |
9 | g.894117C>A | CA463850460 | DMRT1 | c.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=) | |
9 | g.894117C= | CA1827190829 | DMRT1 | c.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=) | |
9 | g.894117C>G | CA463850462 | DMRT1 | c.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=) | |
9 | g.894117C>T | CA4961635 | DMRT1 | c.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 |
9 | g.894118G>A | CA4961636 | DMRT1 | c.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 |
9 | g.894118G>C | CA372776980 | DMRT1 | c.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) | |
9 | g.894118G= | CA1827190831 | DMRT1 | c.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=) | |
9 | g.894118G>T | CA187865018 | DMRT1 | c.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 |
9 | g.894119G>A | CA372776981 | DMRT1 | c.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) | |
9 | g.894119G>C | CA372776983 | DMRT1 | c.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) | |
9 | g.894119G>T | CA372776984 | DMRT1 | c.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 |
9 | g.894120G>A | CA463850465 | DMRT1 | c.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 |
9 | g.894120G>C | CA4961637 | DMRT1 | c.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 |
9 | g.894120G= | CA1827190833 | DMRT1 | c.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=) | |
9 | g.894120G>T | CA463850468 | DMRT1 | c.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 |
9 | g.894121G>A | CA372776987 | DMRT1 | c.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) | |
9 | g.894121G>C | CA372776988 | DMRT1 | c.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 |
9 | g.894121G>T | CA372776989 | DMRT1 | c.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) | |
9 | g.894122G>A | CA372776991 | DMRT1 | c.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) | |
9 | g.894122G>C | CA372776992 | DMRT1 | c.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) | |
9 | g.894122G= | CA1827190836 | DMRT1 | c.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=) | |
9 | g.894122G>T | CA372776993 | DMRT1 | c.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 |
9 | g.894123A>C | CA463850473 | DMRT1 | c.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=) | |
9 | g.894123A>G | CA463850475 | DMRT1 | c.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=) | |
9 | g.894123A>T | CA463850477 | DMRT1 | c.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 |
9 | g.894124T>A | CA372776995 | DMRT1 | c.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) | |
9 | g.894124T>C | CA372776996 | DMRT1 | c.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 |
9 | g.894124T>G | CA4961638 | DMRT1 | c.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 |
9 | g.894124T= | CA1827190837 | DMRT1 | c.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=) | |
9 | g.894125C>A | CA4961639 | DMRT1 | c.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 |
9 | g.894125C= | CA1827190839 | DMRT1 | c.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=) | |
9 | g.894125C>G | CA372776999 | DMRT1 | c.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) | |
9 | g.894125C>T | CA372776998 | DMRT1 | c.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 |
9 | g.894126C>A | CA463850483 | DMRT1 | c.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 |
9 | g.894126C= | CA1827190841 | DMRT1 | c.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=) | |
9 | g.894126C>G | CA463850484 | DMRT1 | c.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=) | |
9 | g.894126C>T | CA463850485 | DMRT1 | c.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 |
9 | g.894127C>A | CA372777001 | DMRT1 | c.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) | |
9 | g.894127C= | CA1827190843 | DMRT1 | c.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=) | |
9 | g.894127C>G | CA4961640 | DMRT1 | c.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 |
9 | g.894127C>T | CA372777003 | DMRT1 | c.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 |
9 | g.894128C>A | CA372777005 | DMRT1 | c.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 |
9 | g.894128C= | CA1827190845 | DMRT1 | c.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=) | |
9 | g.894128C>G | CA372777006 | DMRT1 | c.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) | |
9 | g.894128C>T | CA4961641 | DMRT1 | c.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 |
9 | g.894129T>A | CA4961642 | DMRT1 | c.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 |
9 | g.894129T>C | CA463850487 | DMRT1 | c.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=) | |
9 | g.894129T>G | CA463850488 | DMRT1 | c.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 |
9 | g.894129T= | CA1827190847 | DMRT1 | c.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=) | |
9 | g.894130G>A | CA372777008 | DMRT1 | c.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 |
9 | g.894130G>C | CA372777010 | DMRT1 | c.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) | |
9 | g.894130G= | CA1827190849 | DMRT1 | c.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=) | |
9 | g.894130G>T | CA372777011 | DMRT1 | c.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) | |
9 | g.894131T>A | CA372777014 | DMRT1 | c.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) | |
9 | g.894131T>C | CA372777015 | DMRT1 | c.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) | |
9 | g.894131T>G | CA372777013 | DMRT1 | c.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) | |
9 | g.894132G>A | CA463850492 | DMRT1 | c.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=) | |
9 | g.894132G>C | CA463850493 | DMRT1 | c.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=) | |
9 | g.894132G>T | CA463850495 | DMRT1 | c.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=) | |
9 | g.894133A>C | CA372777019 | DMRT1 | c.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 |
9 | g.894133A>G | CA372777017 | DMRT1 | c.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 |
9 | g.894133A>T | CA372777018 | DMRT1 | c.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) | |
9 | g.894134A= | CA1827190851 | DMRT1 | c.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=) | |
9 | g.894134A>C | CA4961643 | DMRT1 | c.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 |
9 | g.894134A>G | CA372777021 | DMRT1 | c.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) | |
9 | g.894134A>T | CA372777023 | DMRT1 | c.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) | |
9 | g.894135G>A | CA187865081 | DMRT1 | c.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 |
9 | g.894135G>C | CA372777025 | DMRT1 | c.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) | |
9 | g.894135G= | CA1827190852 | DMRT1 | c.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=) | |
9 | g.894135G>T | CA372777027 | DMRT1 | c.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) | |
9 | g.894136A>C | CA372777028 | DMRT1 | c.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) | |
9 | g.894136A>G | CA372777030 | DMRT1 | c.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) | |
9 | g.894136A>T | CA372777032 | DMRT1 | c.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) | |
9 | g.894136_894145del | CA2689223427 | DMRT1 | c.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 |
9 | g.894137A>C | CA372777033 | DMRT1 | c.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) | |
9 | g.894137A>G | CA372777034 | DMRT1 | c.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 |
9 | g.894137A>T | CA372777035 | DMRT1 | c.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 |
9 | g.894138C>A | CA372777039 | DMRT1 | c.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) | |
9 | g.894138C>G | CA372777037 | DMRT1 | c.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) | |
9 | g.894138C>T | CA463850507 | DMRT1 | c.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 |
9 | g.894139A>C | CA372777040 | DMRT1 | c.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) | |
9 | g.894139A>G | CA372777041 | DMRT1 | c.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) | |
9 | g.894139A>T | CA372777042 | DMRT1 | c.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) | |
9 | g.894140G>A | CA4961644 | DMRT1 | c.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 |
9 | g.894140G>C | CA187865092 | DMRT1 | c.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 |
9 | g.894140G= | CA1827190854 | DMRT1 | c.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=) | |
9 | g.894140G>T | CA372777043 | DMRT1 | c.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) | |
9 | g.894141C>A | CA372777045 | DMRT1 | c.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 |
9 | g.894141C= | CA1827190857 | DMRT1 | c.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=) | |
9 | g.894141C>G | CA4961645 | DMRT1 | c.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 |
9 | g.894141C>T | CA463850516 | DMRT1 | c.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=) | |
9 | g.894142C>A | CA372777048 | DMRT1 | c.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) | |
9 | g.894142C= | CA1827190858 | DMRT1 | c.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=) | |
9 | g.894142C>G | CA372777050 | DMRT1 | c.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 |
9 | g.894142C>T | CA372777054 | DMRT1 | c.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) | |
9 | g.894143T>A | CA372777056 | DMRT1 | c.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) | |
9 | g.894143T>C | CA372777057 | DMRT1 | c.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) | |
9 | g.894143T>G | CA372777058 | DMRT1 | c.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) | |
9 | g.894144T>A | CA463850520 | DMRT1 | c.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 |
9 | g.894144T>C | CA463850518 | DMRT1 | c.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=) | |
9 | g.894144T>G | CA463850519 | DMRT1 | c.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=) |