Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.12790481G>A | CA10573265 | USP9Y | c.3636G>A (p.Glu1212=) n.3648G>A c.3402G>A (p.Glu1134=) c.3651G>A (p.Glu1217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12790481G>C | CA414983865 | USP9Y | c.3636G>C (p.Glu1212Asp) n.3648G>C c.3402G>C (p.Glu1134Asp) c.3651G>C (p.Glu1217Asp) | |
Y | g.12790481G= | CA2470558128 | USP9Y | c.3636G= (p.Glu1212=) n.3648G= c.3402G= (p.Glu1134=) c.3651G= (p.Glu1217=) | |
Y | g.12790481G>T | CA414983868 | USP9Y | c.3636G>T (p.Glu1212Asp) n.3648G>T c.3402G>T (p.Glu1134Asp) c.3651G>T (p.Glu1217Asp) | |
Y | g.12790482T>A | CA414983872 | USP9Y | c.3637T>A (p.Cys1213Ser) n.3649T>A c.3403T>A (p.Cys1135Ser) c.3652T>A (p.Cys1218Ser) | |
Y | g.12790482T>C | CA414983874 | USP9Y | c.3637T>C (p.Cys1213Arg) n.3649T>C c.3403T>C (p.Cys1135Arg) c.3652T>C (p.Cys1218Arg) | |
Y | g.12790482T>G | CA414983876 | USP9Y | c.3637T>G (p.Cys1213Gly) n.3649T>G c.3403T>G (p.Cys1135Gly) c.3652T>G (p.Cys1218Gly) | |
Y | g.12790483G>A | CA414983887 | USP9Y | c.3638G>A (p.Cys1213Tyr) n.3650G>A c.3404G>A (p.Cys1135Tyr) c.3653G>A (p.Cys1218Tyr) | |
Y | g.12790483G>C | CA414983883 | USP9Y | c.3638G>C (p.Cys1213Ser) n.3650G>C c.3404G>C (p.Cys1135Ser) c.3653G>C (p.Cys1218Ser) | |
Y | g.12790483G>T | CA414983881 | USP9Y | c.3638G>T (p.Cys1213Phe) n.3650G>T c.3404G>T (p.Cys1135Phe) c.3653G>T (p.Cys1218Phe) | |
Y | g.12790484C>A | CA414983891 | USP9Y | c.3639C>A (p.Cys1213Ter) n.3651C>A c.3405C>A (p.Cys1135Ter) c.3654C>A (p.Cys1218Ter) | |
Y | g.12790484C= | CA2470558129 | USP9Y | c.3639C= (p.Cys1213=) n.3651C= c.3405C= (p.Cys1135=) c.3654C= (p.Cys1218=) | |
Y | g.12790484C>G | CA414983898 | USP9Y | c.3639C>G (p.Cys1213Trp) n.3651C>G c.3405C>G (p.Cys1135Trp) c.3654C>G (p.Cys1218Trp) | |
Y | g.12790484C>T | CA10573266 | USP9Y | c.3639C>T (p.Cys1213=) n.3651C>T c.3405C>T (p.Cys1135=) c.3654C>T (p.Cys1218=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12790485G>A | CA10573267 | USP9Y | c.3640G>A (p.Val1214Ile) n.3652G>A c.3406G>A (p.Val1136Ile) c.3655G>A (p.Val1219Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12790485G>C | CA414983905 | USP9Y | c.3640G>C (p.Val1214Leu) n.3652G>C c.3406G>C (p.Val1136Leu) c.3655G>C (p.Val1219Leu) | |
Y | g.12790485G= | CA2470558130 | USP9Y | c.3640G= (p.Val1214=) n.3652G= c.3406G= (p.Val1136=) c.3655G= (p.Val1219=) | |
Y | g.12790485G>T | CA414983908 | USP9Y | c.3640G>T (p.Val1214Leu) n.3652G>T c.3406G>T (p.Val1136Leu) c.3655G>T (p.Val1219Leu) | |
Y | g.12790486T>A | CA414983910 | USP9Y | c.3641T>A (p.Val1214Glu) n.3653T>A c.3407T>A (p.Val1136Glu) c.3656T>A (p.Val1219Glu) | |
Y | g.12790486T>C | CA414983913 | USP9Y | c.3641T>C (p.Val1214Ala) n.3653T>C c.3407T>C (p.Val1136Ala) c.3656T>C (p.Val1219Ala) | |
Y | g.12790486T>G | CA414983916 | USP9Y | c.3641T>G (p.Val1214Gly) n.3653T>G c.3407T>G (p.Val1136Gly) c.3656T>G (p.Val1219Gly) | |
Y | g.12790487A>C | CA519859986 | USP9Y | c.3642A>C (p.Val1214=) n.3654A>C c.3408A>C (p.Val1136=) c.3657A>C (p.Val1219=) | |
Y | g.12790487A>G | CA519859990 | USP9Y | c.3642A>G (p.Val1214=) n.3654A>G c.3408A>G (p.Val1136=) c.3657A>G (p.Val1219=) | |
Y | g.12790487A>T | CA519860005 | USP9Y | c.3642A>T (p.Val1214=) n.3654A>T c.3408A>T (p.Val1136=) c.3657A>T (p.Val1219=) | |
Y | g.12790488C>A | CA414983918 | USP9Y | c.3643C>A (p.Leu1215Ile) n.3655C>A c.3409C>A (p.Leu1137Ile) c.3658C>A (p.Leu1220Ile) | |
Y | g.12790488C>G | CA414983921 | USP9Y | c.3643C>G (p.Leu1215Val) n.3655C>G c.3409C>G (p.Leu1137Val) c.3658C>G (p.Leu1220Val) | |
Y | g.12790488C>T | CA414983924 | USP9Y | c.3643C>T (p.Leu1215Phe) n.3655C>T c.3409C>T (p.Leu1137Phe) c.3658C>T (p.Leu1220Phe) | |
Y | g.12790489T>A | CA414983931 | USP9Y | c.3644T>A (p.Leu1215His) n.3656T>A c.3410T>A (p.Leu1137His) c.3659T>A (p.Leu1220His) | |
Y | g.12790489T>C | CA414983935 | USP9Y | c.3644T>C (p.Leu1215Pro) n.3656T>C c.3410T>C (p.Leu1137Pro) c.3659T>C (p.Leu1220Pro) | |
Y | g.12790489T>G | CA414983932 | USP9Y | c.3644T>G (p.Leu1215Arg) n.3656T>G c.3410T>G (p.Leu1137Arg) c.3659T>G (p.Leu1220Arg) | |
Y | g.12790490T>A | CA519860050 | USP9Y | c.3645T>A (p.Leu1215=) n.3657T>A c.3411T>A (p.Leu1137=) c.3660T>A (p.Leu1220=) | |
Y | g.12790490T>C | CA519860045 | USP9Y | c.3645T>C (p.Leu1215=) n.3657T>C c.3411T>C (p.Leu1137=) c.3660T>C (p.Leu1220=) | |
Y | g.12790490T>G | CA519860041 | USP9Y | c.3645T>G (p.Leu1215=) n.3657T>G c.3411T>G (p.Leu1137=) c.3660T>G (p.Leu1220=) | |
Y | g.12790491A>C | CA519860052 | USP9Y | c.3646A>C (p.Arg1216=) n.3658A>C c.3412A>C (p.Arg1138=) c.3661A>C (p.Arg1221=) | |
Y | g.12790491A>G | CA414983949 | USP9Y | c.3646A>G (p.Arg1216Gly) n.3658A>G c.3412A>G (p.Arg1138Gly) c.3661A>G (p.Arg1221Gly) | |
Y | g.12790491A>T | CA414983951 | USP9Y | c.3646A>T (p.Arg1216Ter) n.3658A>T c.3412A>T (p.Arg1138Ter) c.3661A>T (p.Arg1221Ter) | |
Y | g.12790492_12790493del | CA2579747870 | USP9Y | c.3647_3648del (p.Arg1216LysfsTer2) n.3659_3660del c.3413_3414del (p.Arg1138LysfsTer2) c.3662_3663del (p.Arg1221LysfsTer2) | |
Y | g.12790492G>A | CA414983954 | USP9Y | c.3647G>A (p.Arg1216Lys) n.3659G>A c.3413G>A (p.Arg1138Lys) c.3662G>A (p.Arg1221Lys) | |
Y | g.12790492G>C | CA414983958 | USP9Y | c.3647G>C (p.Arg1216Thr) n.3659G>C c.3413G>C (p.Arg1138Thr) c.3662G>C (p.Arg1221Thr) | |
Y | g.12790492G>T | CA414983963 | USP9Y | c.3647G>T (p.Arg1216Ile) n.3659G>T c.3413G>T (p.Arg1138Ile) c.3662G>T (p.Arg1221Ile) | |
Y | g.12790493A>C | CA414983967 | USP9Y | c.3648A>C (p.Arg1216Ser) n.3660A>C c.3414A>C (p.Arg1138Ser) c.3663A>C (p.Arg1221Ser) | |
Y | g.12790493A>G | CA519860080 | USP9Y | c.3648A>G (p.Arg1216=) n.3660A>G c.3414A>G (p.Arg1138=) c.3663A>G (p.Arg1221=) | |
Y | g.12790493A>T | CA414983969 | USP9Y | c.3648A>T (p.Arg1216Ser) n.3660A>T c.3414A>T (p.Arg1138Ser) c.3663A>T (p.Arg1221Ser) | |
Y | g.12790494A>C | CA414983973 | USP9Y | c.3649A>C (p.Asn1217His) n.3661A>C c.3415A>C (p.Asn1139His) c.3664A>C (p.Asn1222His) | |
Y | g.12790494A>G | CA414983976 | USP9Y | c.3649A>G (p.Asn1217Asp) n.3661A>G c.3415A>G (p.Asn1139Asp) c.3664A>G (p.Asn1222Asp) | |
Y | g.12790494A>T | CA414983979 | USP9Y | c.3649A>T (p.Asn1217Tyr) n.3661A>T c.3415A>T (p.Asn1139Tyr) c.3664A>T (p.Asn1222Tyr) | |
Y | g.12790495A>C | CA414983983 | USP9Y | c.3650A>C (p.Asn1217Thr) n.3662A>C c.3416A>C (p.Asn1139Thr) c.3665A>C (p.Asn1222Thr) | |
Y | g.12790495A>G | CA414983986 | USP9Y | c.3650A>G (p.Asn1217Ser) n.3662A>G c.3416A>G (p.Asn1139Ser) c.3665A>G (p.Asn1222Ser) | |
Y | g.12790495A>T | CA414983989 | USP9Y | c.3650A>T (p.Asn1217Ile) n.3662A>T c.3416A>T (p.Asn1139Ile) c.3665A>T (p.Asn1222Ile) | |
Y | g.12790496T>A | CA414983995 | USP9Y | c.3651T>A (p.Asn1217Lys) n.3663T>A c.3417T>A (p.Asn1139Lys) c.3666T>A (p.Asn1222Lys) |