| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.12846334T>A | CA519905872 | USP9Y | c.6570T>A (p.Gly2190=) n.6597T>A c.6336T>A (p.Gly2112=) c.6585T>A (p.Gly2195=) | |
| Y | g.12846334T>C | CA519905873 | USP9Y | c.6570T>C (p.Gly2190=) n.6597T>C c.6336T>C (p.Gly2112=) c.6585T>C (p.Gly2195=) | |
| Y | g.12846334T>G | CA519905874 | USP9Y | c.6570T>G (p.Gly2190=) n.6597T>G c.6336T>G (p.Gly2112=) c.6585T>G (p.Gly2195=) | |
| Y | g.12846335G>A | CA415007262 | USP9Y | c.6571G>A (p.Val2191Met) n.6598G>A c.6337G>A (p.Val2113Met) c.6586G>A (p.Val2196Met) | |
| Y | g.12846335G>C | CA415007265 | USP9Y | c.6571G>C (p.Val2191Leu) n.6598G>C c.6337G>C (p.Val2113Leu) c.6586G>C (p.Val2196Leu) | |
| Y | g.12846335G>T | CA415007268 | USP9Y | c.6571G>T (p.Val2191Leu) n.6598G>T c.6337G>T (p.Val2113Leu) c.6586G>T (p.Val2196Leu) | |
| Y | g.12846336T>A | CA415007271 | USP9Y | c.6572T>A (p.Val2191Glu) n.6599T>A c.6338T>A (p.Val2113Glu) c.6587T>A (p.Val2196Glu) | |
| Y | g.12846336T>C | CA415007274 | USP9Y | c.6572T>C (p.Val2191Ala) n.6599T>C c.6338T>C (p.Val2113Ala) c.6587T>C (p.Val2196Ala) | |
| Y | g.12846336T>G | CA415007272 | USP9Y | c.6572T>G (p.Val2191Gly) n.6599T>G c.6338T>G (p.Val2113Gly) c.6587T>G (p.Val2196Gly) | |
| Y | g.12846337G>A | CA519905875 | USP9Y | c.6573G>A (p.Val2191=) n.6600G>A c.6339G>A (p.Val2113=) c.6588G>A (p.Val2196=) | |
| Y | g.12846337G>C | CA519905876 | USP9Y | c.6573G>C (p.Val2191=) n.6600G>C c.6339G>C (p.Val2113=) c.6588G>C (p.Val2196=) | |
| Y | g.12846337G>T | CA519905877 | USP9Y | c.6573G>T (p.Val2191=) n.6600G>T c.6339G>T (p.Val2113=) c.6588G>T (p.Val2196=) | |
| Y | g.12846338G>A | CA415007277 | USP9Y | c.6574G>A (p.Ala2192Thr) n.6601G>A c.6340G>A (p.Ala2114Thr) c.6589G>A (p.Ala2197Thr) | |
| Y | g.12846338G>C | CA415007279 | USP9Y | c.6574G>C (p.Ala2192Pro) n.6601G>C c.6340G>C (p.Ala2114Pro) c.6589G>C (p.Ala2197Pro) | |
| Y | g.12846338G>T | CA415007281 | USP9Y | c.6574G>T (p.Ala2192Ser) n.6601G>T c.6340G>T (p.Ala2114Ser) c.6589G>T (p.Ala2197Ser) | |
| Y | g.12846339C>A | CA415007283 | USP9Y | c.6575C>A (p.Ala2192Glu) n.6602C>A c.6341C>A (p.Ala2114Glu) c.6590C>A (p.Ala2197Glu) | |
| Y | g.12846339C>G | CA415007285 | USP9Y | c.6575C>G (p.Ala2192Gly) n.6602C>G c.6341C>G (p.Ala2114Gly) c.6590C>G (p.Ala2197Gly) | |
| Y | g.12846339C>T | CA415007288 | USP9Y | c.6575C>T (p.Ala2192Val) n.6602C>T c.6341C>T (p.Ala2114Val) c.6590C>T (p.Ala2197Val) | |
| Y | g.12846340A>C | CA519905878 | USP9Y | c.6576A>C (p.Ala2192=) n.6603A>C c.6342A>C (p.Ala2114=) c.6591A>C (p.Ala2197=) | |
| Y | g.12846340A>G | CA519905879 | USP9Y | c.6576A>G (p.Ala2192=) n.6603A>G c.6342A>G (p.Ala2114=) c.6591A>G (p.Ala2197=) | |
| Y | g.12846340A>T | CA519905880 | USP9Y | c.6576A>T (p.Ala2192=) n.6603A>T c.6342A>T (p.Ala2114=) c.6591A>T (p.Ala2197=) | |
| Y | g.12846341G>A | CA415007292 | USP9Y | c.6577G>A (p.Glu2193Lys) n.6604G>A c.6343G>A (p.Glu2115Lys) c.6592G>A (p.Glu2198Lys) | |
| Y | g.12846341G>C | CA415007293 | USP9Y | c.6577G>C (p.Glu2193Gln) n.6604G>C c.6343G>C (p.Glu2115Gln) c.6592G>C (p.Glu2198Gln) | |
| Y | g.12846341G>T | CA415007295 | USP9Y | c.6577G>T (p.Glu2193Ter) n.6604G>T c.6343G>T (p.Glu2115Ter) c.6592G>T (p.Glu2198Ter) | |
| Y | g.12846342A>C | CA415007297 | USP9Y | c.6578A>C (p.Glu2193Ala) n.6605A>C c.6344A>C (p.Glu2115Ala) c.6593A>C (p.Glu2198Ala) | |
| Y | g.12846342A>G | CA415007298 | USP9Y | c.6578A>G (p.Glu2193Gly) n.6605A>G c.6344A>G (p.Glu2115Gly) c.6593A>G (p.Glu2198Gly) | |
| Y | g.12846342A>T | CA415007300 | USP9Y | c.6578A>T (p.Glu2193Val) n.6605A>T c.6344A>T (p.Glu2115Val) c.6593A>T (p.Glu2198Val) | |
| Y | g.12846347dup | CA2766242293 | USP9Y | c.6583dup (p.Thr2195AsnfsTer?) n.6610dup c.6349dup (p.Thr2117AsnfsTer?) c.6598dup (p.Thr2200AsnfsTer?) | |
| Y | g.12846343A>C | CA415007304 | USP9Y | c.6579A>C (p.Glu2193Asp) n.6606A>C c.6345A>C (p.Glu2115Asp) c.6594A>C (p.Glu2198Asp) | |
| Y | g.12846343A>G | CA519905881 | USP9Y | c.6579A>G (p.Glu2193=) n.6606A>G c.6345A>G (p.Glu2115=) c.6594A>G (p.Glu2198=) | |
| Y | g.12846343A>T | CA415007306 | USP9Y | c.6579A>T (p.Glu2193Asp) n.6606A>T c.6345A>T (p.Glu2115Asp) c.6594A>T (p.Glu2198Asp) | |
| Y | g.12846344A>C | CA415007308 | USP9Y | c.6580A>C (p.Lys2194Gln) n.6607A>C c.6346A>C (p.Lys2116Gln) c.6595A>C (p.Lys2199Gln) | |
| Y | g.12846344A>G | CA415007313 | USP9Y | c.6580A>G (p.Lys2194Glu) n.6607A>G c.6346A>G (p.Lys2116Glu) c.6595A>G (p.Lys2199Glu) | |
| Y | g.12846344A>T | CA415007310 | USP9Y | c.6580A>T (p.Lys2194Ter) n.6607A>T c.6346A>T (p.Lys2116Ter) c.6595A>T (p.Lys2199Ter) | |
| Y | g.12846345A>C | CA415007314 | USP9Y | c.6581A>C (p.Lys2194Thr) n.6608A>C c.6347A>C (p.Lys2116Thr) c.6596A>C (p.Lys2199Thr) | |
| Y | g.12846345A>G | CA415007317 | USP9Y | c.6581A>G (p.Lys2194Arg) n.6608A>G c.6347A>G (p.Lys2116Arg) c.6596A>G (p.Lys2199Arg) | |
| Y | g.12846345A>T | CA415007318 | USP9Y | c.6581A>T (p.Lys2194Ile) n.6608A>T c.6347A>T (p.Lys2116Ile) c.6596A>T (p.Lys2199Ile) | |
| Y | g.12846346A>C | CA415007320 | USP9Y | c.6582A>C (p.Lys2194Asn) n.6609A>C c.6348A>C (p.Lys2116Asn) c.6597A>C (p.Lys2199Asn) | |
| Y | g.12846346A>G | CA519905882 | USP9Y | c.6582A>G (p.Lys2194=) n.6609A>G c.6348A>G (p.Lys2116=) c.6597A>G (p.Lys2199=) | |
| Y | g.12846346A>T | CA415007323 | USP9Y | c.6582A>T (p.Lys2194Asn) n.6609A>T c.6348A>T (p.Lys2116Asn) c.6597A>T (p.Lys2199Asn) | |
| Y | g.12846347A>C | CA415007324 | USP9Y | c.6583A>C (p.Thr2195Pro) n.6610A>C c.6349A>C (p.Thr2117Pro) c.6598A>C (p.Thr2200Pro) | |
| Y | g.12846347A>G | CA415007325 | USP9Y | c.6583A>G (p.Thr2195Ala) n.6610A>G c.6349A>G (p.Thr2117Ala) c.6598A>G (p.Thr2200Ala) | |
| Y | g.12846347A>T | CA415007328 | USP9Y | c.6583A>T (p.Thr2195Ser) n.6610A>T c.6349A>T (p.Thr2117Ser) c.6598A>T (p.Thr2200Ser) | |
| Y | g.12846348C>A | CA415007332 | USP9Y | c.6584C>A (p.Thr2195Lys) n.6611C>A c.6350C>A (p.Thr2117Lys) c.6599C>A (p.Thr2200Lys) | |
| Y | g.12846348C>G | CA415007333 | USP9Y | c.6584C>G (p.Thr2195Arg) n.6611C>G c.6350C>G (p.Thr2117Arg) c.6599C>G (p.Thr2200Arg) | |
| Y | g.12846348C>T | CA415007337 | USP9Y | c.6584C>T (p.Thr2195Ile) n.6611C>T c.6350C>T (p.Thr2117Ile) c.6599C>T (p.Thr2200Ile) | |
| Y | g.12846349A>C | CA519905883 | USP9Y | c.6585A>C (p.Thr2195=) n.6612A>C c.6351A>C (p.Thr2117=) c.6600A>C (p.Thr2200=) | |
| Y | g.12846349A>G | CA519905885 | USP9Y | c.6585A>G (p.Thr2195=) n.6612A>G c.6351A>G (p.Thr2117=) c.6600A>G (p.Thr2200=) | |
| Y | g.12846349A>T | CA519905884 | USP9Y | c.6585A>T (p.Thr2195=) n.6612A>T c.6351A>T (p.Thr2117=) c.6600A>T (p.Thr2200=) | |
| Y | g.12846350C>A | CA415007341 | USP9Y | c.6586C>A (p.Gln2196Lys) n.6613C>A c.6352C>A (p.Gln2118Lys) c.6601C>A (p.Gln2201Lys) | |
| Y | g.12846350C= | CA2470561151 | USP9Y | c.6586C= (p.Gln2196=) n.6613C= c.6352C= (p.Gln2118=) c.6601C= (p.Gln2201=) | |
| Y | g.12846350C>G | CA415007338 | USP9Y | c.6586C>G (p.Gln2196Glu) n.6613C>G c.6352C>G (p.Gln2118Glu) c.6601C>G (p.Gln2201Glu) | dbSNP |
| Y | g.12846350C>T | CA415007340 | USP9Y | c.6586C>T (p.Gln2196Ter) n.6613C>T c.6352C>T (p.Gln2118Ter) c.6601C>T (p.Gln2201Ter) | |
| Y | g.12846351A>C | CA415007343 | USP9Y | c.6587A>C (p.Gln2196Pro) n.6614A>C c.6353A>C (p.Gln2118Pro) c.6602A>C (p.Gln2201Pro) | |
| Y | g.12846351A>G | CA415007345 | USP9Y | c.6587A>G (p.Gln2196Arg) n.6614A>G c.6353A>G (p.Gln2118Arg) c.6602A>G (p.Gln2201Arg) | |
| Y | g.12846351A>T | CA415007347 | USP9Y | c.6587A>T (p.Gln2196Leu) n.6614A>T c.6353A>T (p.Gln2118Leu) c.6602A>T (p.Gln2201Leu) | |
| Y | g.12846352G>A | CA519905889 | USP9Y | c.6588G>A (p.Gln2196=) n.6615G>A c.6354G>A (p.Gln2118=) c.6603G>A (p.Gln2201=) | |
| Y | g.12846352G>C | CA415007349 | USP9Y | c.6588G>C (p.Gln2196His) n.6615G>C c.6354G>C (p.Gln2118His) c.6603G>C (p.Gln2201His) | |
| Y | g.12846352G>T | CA415007350 | USP9Y | c.6588G>T (p.Gln2196His) n.6615G>T c.6354G>T (p.Gln2118His) c.6603G>T (p.Gln2201His) | |
| Y | g.12846353C>A | CA415007354 | USP9Y | c.6589C>A (p.Leu2197Ile) n.6616C>A c.6355C>A (p.Leu2119Ile) c.6604C>A (p.Leu2202Ile) | |
| Y | g.12846353C>G | CA415007357 | USP9Y | c.6589C>G (p.Leu2197Val) n.6616C>G c.6355C>G (p.Leu2119Val) c.6604C>G (p.Leu2202Val) | |
| Y | g.12846353C>T | CA415007359 | USP9Y | c.6589C>T (p.Leu2197Phe) n.6616C>T c.6355C>T (p.Leu2119Phe) c.6604C>T (p.Leu2202Phe) | |
| Y | g.12846354T>A | CA415007360 | USP9Y | c.6590T>A (p.Leu2197His) n.6617T>A c.6356T>A (p.Leu2119His) c.6605T>A (p.Leu2202His) | |
| Y | g.12846354T>C | CA415007362 | USP9Y | c.6590T>C (p.Leu2197Pro) n.6617T>C c.6356T>C (p.Leu2119Pro) c.6605T>C (p.Leu2202Pro) | |
| Y | g.12846354T>G | CA415007364 | USP9Y | c.6590T>G (p.Leu2197Arg) n.6617T>G c.6356T>G (p.Leu2119Arg) c.6605T>G (p.Leu2202Arg) | |
| Y | g.12846355T>A | CA519905892 | USP9Y | c.6591T>A (p.Leu2197=) n.6618T>A c.6357T>A (p.Leu2119=) c.6606T>A (p.Leu2202=) | |
| Y | g.12846355T>C | CA519905894 | USP9Y | c.6591T>C (p.Leu2197=) n.6618T>C c.6357T>C (p.Leu2119=) c.6606T>C (p.Leu2202=) | |
| Y | g.12846355T>G | CA519905895 | USP9Y | c.6591T>G (p.Leu2197=) n.6618T>G c.6357T>G (p.Leu2119=) c.6606T>G (p.Leu2202=) | |
| Y | g.12846356C>A | CA415007366 | USP9Y | c.6592C>A (p.Leu2198Met) n.6619C>A c.6358C>A (p.Leu2120Met) c.6607C>A (p.Leu2203Met) | |
| Y | g.12846356C>G | CA415007367 | USP9Y | c.6592C>G (p.Leu2198Val) n.6619C>G c.6358C>G (p.Leu2120Val) c.6607C>G (p.Leu2203Val) | |
| Y | g.12846356C>T | CA519905896 | USP9Y | c.6592C>T (p.Leu2198=) n.6619C>T c.6358C>T (p.Leu2120=) c.6607C>T (p.Leu2203=) | |
| Y | g.12846357T>A | CA415007369 | USP9Y | c.6593T>A (p.Leu2198Gln) n.6620T>A c.6359T>A (p.Leu2120Gln) c.6608T>A (p.Leu2203Gln) | |
| Y | g.12846357T>C | CA415007371 | USP9Y | c.6593T>C (p.Leu2198Pro) n.6620T>C c.6359T>C (p.Leu2120Pro) c.6608T>C (p.Leu2203Pro) | |
| Y | g.12846357T>G | CA415007372 | USP9Y | c.6593T>G (p.Leu2198Arg) n.6620T>G c.6359T>G (p.Leu2120Arg) c.6608T>G (p.Leu2203Arg) | |
| Y | g.12846358G>A | CA519905897 | USP9Y | c.6594G>A (p.Leu2198=) n.6621G>A c.6360G>A (p.Leu2120=) c.6609G>A (p.Leu2203=) | dbSNP gnomAD v2 |
| Y | g.12846358G>C | CA519905899 | USP9Y | c.6594G>C (p.Leu2198=) n.6621G>C c.6360G>C (p.Leu2120=) c.6609G>C (p.Leu2203=) | |
| Y | g.12846358G= | CA2470561152 | USP9Y | c.6594G= (p.Leu2198=) n.6621G= c.6360G= (p.Leu2120=) c.6609G= (p.Leu2203=) | |
| Y | g.12846358G>T | CA519905900 | USP9Y | c.6594G>T (p.Leu2198=) n.6621G>T c.6360G>T (p.Leu2120=) c.6609G>T (p.Leu2203=) | |
| Y | g.12846359A>C | CA415007376 | USP9Y | c.6595A>C (p.Lys2199Gln) n.6622A>C c.6361A>C (p.Lys2121Gln) c.6610A>C (p.Lys2204Gln) | |
| Y | g.12846359A>G | CA415007378 | USP9Y | c.6595A>G (p.Lys2199Glu) n.6622A>G c.6361A>G (p.Lys2121Glu) c.6610A>G (p.Lys2204Glu) | |
| Y | g.12846359A>T | CA415007380 | USP9Y | c.6595A>T (p.Lys2199Ter) n.6622A>T c.6361A>T (p.Lys2121Ter) c.6610A>T (p.Lys2204Ter) | |
| Y | g.12846360A>C | CA415007381 | USP9Y | c.6596A>C (p.Lys2199Thr) n.6623A>C c.6362A>C (p.Lys2121Thr) c.6611A>C (p.Lys2204Thr) | |
| Y | g.12846360A>G | CA415007383 | USP9Y | c.6596A>G (p.Lys2199Arg) n.6623A>G c.6362A>G (p.Lys2121Arg) c.6611A>G (p.Lys2204Arg) | |
| Y | g.12846360A>T | CA415007384 | USP9Y | c.6596A>T (p.Lys2199Ile) n.6623A>T c.6362A>T (p.Lys2121Ile) c.6611A>T (p.Lys2204Ile) | |
| Y | g.12846361A>C | CA415007386 | USP9Y | c.6597A>C (p.Lys2199Asn) n.6624A>C c.6363A>C (p.Lys2121Asn) c.6612A>C (p.Lys2204Asn) | |
| Y | g.12846361A>G | CA519905904 | USP9Y | c.6597A>G (p.Lys2199=) n.6624A>G c.6363A>G (p.Lys2121=) c.6612A>G (p.Lys2204=) | |
| Y | g.12846361A>T | CA415007387 | USP9Y | c.6597A>T (p.Lys2199Asn) n.6624A>T c.6363A>T (p.Lys2121Asn) c.6612A>T (p.Lys2204Asn) | |
| Y | g.12846362T>A | CA415007389 | USP9Y | c.6598T>A (p.Leu2200Met) n.6625T>A c.6364T>A (p.Leu2122Met) c.6613T>A (p.Leu2205Met) | |
| Y | g.12846362T>C | CA519905905 | USP9Y | c.6598T>C (p.Leu2200=) n.6625T>C c.6364T>C (p.Leu2122=) c.6613T>C (p.Leu2205=) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.12846362T>G | CA415007390 | USP9Y | c.6598T>G (p.Leu2200Val) n.6625T>G c.6364T>G (p.Leu2122Val) c.6613T>G (p.Leu2205Val) | |
| Y | g.12846362T= | CA2470561153 | USP9Y | c.6598T= (p.Leu2200=) n.6625T= c.6364T= (p.Leu2122=) c.6613T= (p.Leu2205=) | |
| Y | g.12846363T>A | CA415007391 | USP9Y | c.6599T>A (p.Leu2200Ter) n.6626T>A c.6365T>A (p.Leu2122Ter) c.6614T>A (p.Leu2205Ter) | |
| Y | g.12846363T>C | CA415007393 | USP9Y | c.6599T>C (p.Leu2200Ser) n.6626T>C c.6365T>C (p.Leu2122Ser) c.6614T>C (p.Leu2205Ser) | |
| Y | g.12846363T>G | CA415007392 | USP9Y | c.6599T>G (p.Leu2200Trp) n.6626T>G c.6365T>G (p.Leu2122Trp) c.6614T>G (p.Leu2205Trp) | |
| Y | g.12846364G>A | CA519905907 | USP9Y | c.6600G>A (p.Leu2200=) n.6627G>A c.6366G>A (p.Leu2122=) c.6615G>A (p.Leu2205=) | |
| Y | g.12846364G>C | CA415007394 | USP9Y | c.6600G>C (p.Leu2200Phe) n.6627G>C c.6366G>C (p.Leu2122Phe) c.6615G>C (p.Leu2205Phe) | |
| Y | g.12846364G>T | CA415007396 | USP9Y | c.6600G>T (p.Leu2200Phe) n.6627G>T c.6366G>T (p.Leu2122Phe) c.6615G>T (p.Leu2205Phe) | |
| Y | g.12846365A>C | CA415007398 | USP9Y | c.6601A>C (p.Asn2201His) n.6628A>C c.6367A>C (p.Asn2123His) c.6616A>C (p.Asn2206His) | |
| Y | g.12846365A>G | CA415007399 | USP9Y | c.6601A>G (p.Asn2201Asp) n.6628A>G c.6367A>G (p.Asn2123Asp) c.6616A>G (p.Asn2206Asp) | |
| Y | g.12846365A>T | CA415007402 | USP9Y | c.6601A>T (p.Asn2201Tyr) n.6628A>T c.6367A>T (p.Asn2123Tyr) c.6616A>T (p.Asn2206Tyr) | |
| Y | g.12846366A>C | CA415007406 | USP9Y | c.6602A>C (p.Asn2201Thr) n.6629A>C c.6368A>C (p.Asn2123Thr) c.6617A>C (p.Asn2206Thr) | |
| Y | g.12846366A>G | CA415007412 | USP9Y | c.6602A>G (p.Asn2201Ser) n.6629A>G c.6368A>G (p.Asn2123Ser) c.6617A>G (p.Asn2206Ser) | |
| Y | g.12846366A>T | CA415007415 | USP9Y | c.6602A>T (p.Asn2201Ile) n.6629A>T c.6368A>T (p.Asn2123Ile) c.6617A>T (p.Asn2206Ile) | |
| Y | g.12846367T>A | CA415007416 | USP9Y | c.6603T>A (p.Asn2201Lys) n.6630T>A c.6369T>A (p.Asn2123Lys) c.6618T>A (p.Asn2206Lys) | |
| Y | g.12846367T>C | CA519905909 | USP9Y | c.6603T>C (p.Asn2201=) n.6630T>C c.6369T>C (p.Asn2123=) c.6618T>C (p.Asn2206=) | |
| Y | g.12846367T>G | CA415007419 | USP9Y | c.6603T>G (p.Asn2201Lys) n.6630T>G c.6369T>G (p.Asn2123Lys) c.6618T>G (p.Asn2206Lys) | |
| Y | g.12846368G>A | CA10573496 | USP9Y | c.6604G>A (p.Val2202Ile) n.6631G>A c.6370G>A (p.Val2124Ile) c.6619G>A (p.Val2207Ile) | dbSNP ExAC gnomAD v2 |
| Y | g.12846368G>C | CA415007421 | USP9Y | c.6604G>C (p.Val2202Leu) n.6631G>C c.6370G>C (p.Val2124Leu) c.6619G>C (p.Val2207Leu) | |
| Y | g.12846368G= | CA2470561154 | USP9Y | c.6604G= (p.Val2202=) n.6631G= c.6370G= (p.Val2124=) c.6619G= (p.Val2207=) | |
| Y | g.12846368G>T | CA415007424 | USP9Y | c.6604G>T (p.Val2202Leu) n.6631G>T c.6370G>T (p.Val2124Leu) c.6619G>T (p.Val2207Leu) | |
| Y | g.12846369T>A | CA415007434 | USP9Y | c.6605T>A (p.Val2202Glu) n.6632T>A c.6371T>A (p.Val2124Glu) c.6620T>A (p.Val2207Glu) | |
| Y | g.12846369T>C | CA415007437 | USP9Y | c.6605T>C (p.Val2202Ala) n.6632T>C c.6371T>C (p.Val2124Ala) c.6620T>C (p.Val2207Ala) | |
| Y | g.12846369T>G | CA415007439 | USP9Y | c.6605T>G (p.Val2202Gly) n.6632T>G c.6371T>G (p.Val2124Gly) c.6620T>G (p.Val2207Gly) | |
| Y | g.12846370A>C | CA519905913 | USP9Y | c.6606A>C (p.Val2202=) n.6633A>C c.6372A>C (p.Val2124=) c.6621A>C (p.Val2207=) | |
| Y | g.12846370A>G | CA519905912 | USP9Y | c.6606A>G (p.Val2202=) n.6633A>G c.6372A>G (p.Val2124=) c.6621A>G (p.Val2207=) | |
| Y | g.12846370A>T | CA519905911 | USP9Y | c.6606A>T (p.Val2202=) n.6633A>T c.6372A>T (p.Val2124=) c.6621A>T (p.Val2207=) | |
| Y | g.12846371C>A | CA415007442 | USP9Y | c.6607C>A (p.Pro2203Thr) n.6634C>A c.6373C>A (p.Pro2125Thr) c.6622C>A (p.Pro2208Thr) | |
| Y | g.12846371C>G | CA415007443 | USP9Y | c.6607C>G (p.Pro2203Ala) n.6634C>G c.6373C>G (p.Pro2125Ala) c.6622C>G (p.Pro2208Ala) | |
| Y | g.12846371C>T | CA415007446 | USP9Y | c.6607C>T (p.Pro2203Ser) n.6634C>T c.6373C>T (p.Pro2125Ser) c.6622C>T (p.Pro2208Ser) | |
| Y | g.12846372C>A | CA415007454 | USP9Y | c.6608C>A (p.Pro2203His) n.6635C>A c.6374C>A (p.Pro2125His) c.6623C>A (p.Pro2208His) | |
| Y | g.12846372C>G | CA415007452 | USP9Y | c.6608C>G (p.Pro2203Arg) n.6635C>G c.6374C>G (p.Pro2125Arg) c.6623C>G (p.Pro2208Arg) | |
| Y | g.12846372C>T | CA415007449 | USP9Y | c.6608C>T (p.Pro2203Leu) n.6635C>T c.6374C>T (p.Pro2125Leu) c.6623C>T (p.Pro2208Leu) | |
| Y | g.12846373T>A | CA519905915 | USP9Y | c.6609T>A (p.Pro2203=) n.6636T>A c.6375T>A (p.Pro2125=) c.6624T>A (p.Pro2208=) | |
| Y | g.12846373T>C | CA519905916 | USP9Y | c.6609T>C (p.Pro2203=) n.6636T>C c.6375T>C (p.Pro2125=) c.6624T>C (p.Pro2208=) | |
| Y | g.12846373T>G | CA519905917 | USP9Y | c.6609T>G (p.Pro2203=) n.6636T>G c.6375T>G (p.Pro2125=) c.6624T>G (p.Pro2208=) | |
| Y | g.12846374G>A | CA415007457 | USP9Y | c.6610G>A (p.Ala2204Thr) n.6637G>A c.6376G>A (p.Ala2126Thr) c.6625G>A (p.Ala2209Thr) | |
| Y | g.12846374G>C | CA415007460 | USP9Y | c.6610G>C (p.Ala2204Pro) n.6637G>C c.6376G>C (p.Ala2126Pro) c.6625G>C (p.Ala2209Pro) | |
| Y | g.12846374G>T | CA415007464 | USP9Y | c.6610G>T (p.Ala2204Ser) n.6637G>T c.6376G>T (p.Ala2126Ser) c.6625G>T (p.Ala2209Ser) | |
| Y | g.12846375C>A | CA415007466 | USP9Y | c.6611C>A (p.Ala2204Asp) n.6638C>A c.6377C>A (p.Ala2126Asp) c.6626C>A (p.Ala2209Asp) | |
| Y | g.12846375C>G | CA415007467 | USP9Y | c.6611C>G (p.Ala2204Gly) n.6638C>G c.6377C>G (p.Ala2126Gly) c.6626C>G (p.Ala2209Gly) | |
| Y | g.12846375C>T | CA415007470 | USP9Y | c.6611C>T (p.Ala2204Val) n.6638C>T c.6377C>T (p.Ala2126Val) c.6626C>T (p.Ala2209Val) | |
| Y | g.12846376T>A | CA519905919 | USP9Y | c.6612T>A (p.Ala2204=) n.6639T>A c.6378T>A (p.Ala2126=) c.6627T>A (p.Ala2209=) | |
| Y | g.12846376T>C | CA519905920 | USP9Y | c.6612T>C (p.Ala2204=) n.6639T>C c.6378T>C (p.Ala2126=) c.6627T>C (p.Ala2209=) | |
| Y | g.12846376T>G | CA519905921 | USP9Y | c.6612T>G (p.Ala2204=) n.6639T>G c.6378T>G (p.Ala2126=) c.6627T>G (p.Ala2209=) | |
| Y | g.12846377A>C | CA415007471 | USP9Y | c.6613A>C (p.Thr2205Pro) n.6640A>C c.6379A>C (p.Thr2127Pro) c.6628A>C (p.Thr2210Pro) | |
| Y | g.12846377A>G | CA415007475 | USP9Y | c.6613A>G (p.Thr2205Ala) n.6640A>G c.6379A>G (p.Thr2127Ala) c.6628A>G (p.Thr2210Ala) | |
| Y | g.12846377A>T | CA415007473 | USP9Y | c.6613A>T (p.Thr2205Ser) n.6640A>T c.6379A>T (p.Thr2127Ser) c.6628A>T (p.Thr2210Ser) | |
| Y | g.12846378C>A | CA415007476 | USP9Y | c.6614C>A (p.Thr2205Asn) n.6641C>A c.6380C>A (p.Thr2127Asn) c.6629C>A (p.Thr2210Asn) | |
| Y | g.12846378C>G | CA415007478 | USP9Y | c.6614C>G (p.Thr2205Ser) n.6641C>G c.6380C>G (p.Thr2127Ser) c.6629C>G (p.Thr2210Ser) | |
| Y | g.12846378C>T | CA415007483 | USP9Y | c.6614C>T (p.Thr2205Ile) n.6641C>T c.6380C>T (p.Thr2127Ile) c.6629C>T (p.Thr2210Ile) | |
| Y | g.12846379C>A | CA519905923 | USP9Y | c.6615C>A (p.Thr2205=) n.6642C>A c.6381C>A (p.Thr2127=) c.6630C>A (p.Thr2210=) | |
| Y | g.12846379C>G | CA519905924 | USP9Y | c.6615C>G (p.Thr2205=) n.6642C>G c.6381C>G (p.Thr2127=) c.6630C>G (p.Thr2210=) | |
| Y | g.12846379C>T | CA519905925 | USP9Y | c.6615C>T (p.Thr2205=) n.6642C>T c.6381C>T (p.Thr2127=) c.6630C>T (p.Thr2210=) | |
| Y | g.12846380T>A | CA415007486 | USP9Y | c.6616T>A (p.Phe2206Ile) n.6643T>A c.6382T>A (p.Phe2128Ile) c.6631T>A (p.Phe2211Ile) | |
| Y | g.12846380T>C | CA415007488 | USP9Y | c.6616T>C (p.Phe2206Leu) n.6643T>C c.6382T>C (p.Phe2128Leu) c.6631T>C (p.Phe2211Leu) | |
| Y | g.12846380T>G | CA415007490 | USP9Y | c.6616T>G (p.Phe2206Val) n.6643T>G c.6382T>G (p.Phe2128Val) c.6631T>G (p.Phe2211Val) | |
| Y | g.12846381T>A | CA415007493 | USP9Y | c.6617T>A (p.Phe2206Tyr) n.6644T>A c.6383T>A (p.Phe2128Tyr) c.6632T>A (p.Phe2211Tyr) | |
| Y | g.12846381T>C | CA415007495 | USP9Y | c.6617T>C (p.Phe2206Ser) n.6644T>C c.6383T>C (p.Phe2128Ser) c.6632T>C (p.Phe2211Ser) | |
| Y | g.12846381T>G | CA415007497 | USP9Y | c.6617T>G (p.Phe2206Cys) n.6644T>G c.6383T>G (p.Phe2128Cys) c.6632T>G (p.Phe2211Cys) | |
| Y | g.12846382T>A | CA415007501 | USP9Y | c.6618T>A (p.Phe2206Leu) n.6645T>A c.6384T>A (p.Phe2128Leu) c.6633T>A (p.Phe2211Leu) | |
| Y | g.12846382T>C | CA519905927 | USP9Y | c.6618T>C (p.Phe2206=) n.6645T>C c.6384T>C (p.Phe2128=) c.6633T>C (p.Phe2211=) | |
| Y | g.12846382T>G | CA415007505 | USP9Y | c.6618T>G (p.Phe2206Leu) n.6645T>G c.6384T>G (p.Phe2128Leu) c.6633T>G (p.Phe2211Leu) | |
| Y | g.12846383A>C | CA415007507 | USP9Y | c.6619A>C (p.Met2207Leu) n.6646A>C c.6385A>C (p.Met2129Leu) c.6634A>C (p.Met2212Leu) | |
| Y | g.12846383A>G | CA415007513 | USP9Y | c.6619A>G (p.Met2207Val) n.6646A>G c.6385A>G (p.Met2129Val) c.6634A>G (p.Met2212Val) | |
| Y | g.12846383A>T | CA415007511 | USP9Y | c.6619A>T (p.Met2207Leu) n.6646A>T c.6385A>T (p.Met2129Leu) c.6634A>T (p.Met2212Leu) | |
| Y | g.12846384T>A | CA415007515 | USP9Y | c.6620T>A (p.Met2207Lys) n.6647T>A c.6386T>A (p.Met2129Lys) c.6635T>A (p.Met2212Lys) | |
| Y | g.12846384T>C | CA415007520 | USP9Y | c.6620T>C (p.Met2207Thr) n.6647T>C c.6386T>C (p.Met2129Thr) c.6635T>C (p.Met2212Thr) | |
| Y | g.12846384T>G | CA415007522 | USP9Y | c.6620T>G (p.Met2207Arg) n.6647T>G c.6386T>G (p.Met2129Arg) c.6635T>G (p.Met2212Arg) | |
| Y | g.12846385G>A | CA415007524 | USP9Y | c.6621G>A (p.Met2207Ile) n.6648G>A c.6387G>A (p.Met2129Ile) c.6636G>A (p.Met2212Ile) | |
| Y | g.12846385G>C | CA415007525 | USP9Y | c.6621G>C (p.Met2207Ile) n.6648G>C c.6387G>C (p.Met2129Ile) c.6636G>C (p.Met2212Ile) | |
| Y | g.12846385G>T | CA415007526 | USP9Y | c.6621G>T (p.Met2207Ile) n.6648G>T c.6387G>T (p.Met2129Ile) c.6636G>T (p.Met2212Ile) | |
| Y | g.12846386C>A | CA415007527 | USP9Y | c.6622C>A (p.Leu2208Ile) n.6649C>A c.6388C>A (p.Leu2130Ile) c.6637C>A (p.Leu2213Ile) | |
| Y | g.12846386C>G | CA415007528 | USP9Y | c.6622C>G (p.Leu2208Val) n.6649C>G c.6388C>G (p.Leu2130Val) c.6637C>G (p.Leu2213Val) | |
| Y | g.12846386C>T | CA415007530 | USP9Y | c.6622C>T (p.Leu2208Phe) n.6649C>T c.6388C>T (p.Leu2130Phe) c.6637C>T (p.Leu2213Phe) | |
| Y | g.12846387T>A | CA415007531 | USP9Y | c.6623T>A (p.Leu2208His) n.6650T>A c.6389T>A (p.Leu2130His) c.6638T>A (p.Leu2213His) | |
| Y | g.12846387T>C | CA415007533 | USP9Y | c.6623T>C (p.Leu2208Pro) n.6650T>C c.6389T>C (p.Leu2130Pro) c.6638T>C (p.Leu2213Pro) | |
| Y | g.12846387T>G | CA415007534 | USP9Y | c.6623T>G (p.Leu2208Arg) n.6650T>G c.6389T>G (p.Leu2130Arg) c.6638T>G (p.Leu2213Arg) | |
| Y | g.12846388T>A | CA519905932 | USP9Y | c.6624T>A (p.Leu2208=) n.6651T>A c.6390T>A (p.Leu2130=) c.6639T>A (p.Leu2213=) | |
| Y | g.12846388T>C | CA519905933 | USP9Y | c.6624T>C (p.Leu2208=) n.6651T>C c.6390T>C (p.Leu2130=) c.6639T>C (p.Leu2213=) | |
| Y | g.12846388T>G | CA519905934 | USP9Y | c.6624T>G (p.Leu2208=) n.6651T>G c.6390T>G (p.Leu2130=) c.6639T>G (p.Leu2213=) | |
| Y | g.12846389G>A | CA415007548 | USP9Y | c.6625G>A (p.Val2209Met) n.6652G>A c.6391G>A (p.Val2131Met) c.6640G>A (p.Val2214Met) | |
| Y | g.12846389G>C | CA415007541 | USP9Y | c.6625G>C (p.Val2209Leu) n.6652G>C c.6391G>C (p.Val2131Leu) c.6640G>C (p.Val2214Leu) | |
| Y | g.12846389G>T | CA415007545 | USP9Y | c.6625G>T (p.Val2209Leu) n.6652G>T c.6391G>T (p.Val2131Leu) c.6640G>T (p.Val2214Leu) | |
| Y | g.12846390T>A | CA415007550 | USP9Y | c.6626T>A (p.Val2209Glu) n.6653T>A c.6392T>A (p.Val2131Glu) c.6641T>A (p.Val2214Glu) | |
| Y | g.12846390T>C | CA415007551 | USP9Y | c.6626T>C (p.Val2209Ala) n.6653T>C c.6392T>C (p.Val2131Ala) c.6641T>C (p.Val2214Ala) | |
| Y | g.12846390T>G | CA415007554 | USP9Y | c.6626T>G (p.Val2209Gly) n.6653T>G c.6392T>G (p.Val2131Gly) c.6641T>G (p.Val2214Gly) | |
| Y | g.12846391G>A | CA519905937 | USP9Y | c.6627G>A (p.Val2209=) n.6654G>A c.6393G>A (p.Val2131=) c.6642G>A (p.Val2214=) | |
| Y | g.12846391G>C | CA519905940 | USP9Y | c.6627G>C (p.Val2209=) n.6654G>C c.6393G>C (p.Val2131=) c.6642G>C (p.Val2214=) | |
| Y | g.12846391G>T | CA519905939 | USP9Y | c.6627G>T (p.Val2209=) n.6654G>T c.6393G>T (p.Val2131=) c.6642G>T (p.Val2214=) | |
| Y | g.12846392T>A | CA415007557 | USP9Y | c.6628T>A (p.Ser2210Thr) n.6655T>A c.6394T>A (p.Ser2132Thr) c.6643T>A (p.Ser2215Thr) | |
| Y | g.12846392T>C | CA415007559 | USP9Y | c.6628T>C (p.Ser2210Pro) n.6655T>C c.6394T>C (p.Ser2132Pro) c.6643T>C (p.Ser2215Pro) | |
| Y | g.12846392T>G | CA415007560 | USP9Y | c.6628T>G (p.Ser2210Ala) n.6655T>G c.6394T>G (p.Ser2132Ala) c.6643T>G (p.Ser2215Ala) | |
| Y | g.12846393C>A | CA415007561 | USP9Y | c.6629C>A (p.Ser2210Tyr) n.6656C>A c.6395C>A (p.Ser2132Tyr) c.6644C>A (p.Ser2215Tyr) | |
| Y | g.12846393C>G | CA415007562 | USP9Y | c.6629C>G (p.Ser2210Cys) n.6656C>G c.6395C>G (p.Ser2132Cys) c.6644C>G (p.Ser2215Cys) | |
| Y | g.12846393C>T | CA415007563 | USP9Y | c.6629C>T (p.Ser2210Phe) n.6656C>T c.6395C>T (p.Ser2132Phe) c.6644C>T (p.Ser2215Phe) | |
| Y | g.12846394T>A | CA519905941 | USP9Y | c.6630T>A (p.Ser2210=) n.6657T>A c.6396T>A (p.Ser2132=) c.6645T>A (p.Ser2215=) | |
| Y | g.12846394T>C | CA519905943 | USP9Y | c.6630T>C (p.Ser2210=) n.6657T>C c.6396T>C (p.Ser2132=) c.6645T>C (p.Ser2215=) | |
| Y | g.12846394T>G | CA519905945 | USP9Y | c.6630T>G (p.Ser2210=) n.6657T>G c.6396T>G (p.Ser2132=) c.6645T>G (p.Ser2215=) | |
| Y | g.12846395T>A | CA415007565 | USP9Y | c.6631T>A (p.Leu2211Ile) n.6658T>A c.6397T>A (p.Leu2133Ile) c.6646T>A (p.Leu2216Ile) | |
| Y | g.12846395T>C | CA519905947 | USP9Y | c.6631T>C (p.Leu2211=) n.6658T>C c.6397T>C (p.Leu2133=) c.6646T>C (p.Leu2216=) | |
| Y | g.12846395T>G | CA415007566 | USP9Y | c.6631T>G (p.Leu2211Val) n.6658T>G c.6397T>G (p.Leu2133Val) c.6646T>G (p.Leu2216Val) | |
| Y | g.12846396T>A | CA415007567 | USP9Y | c.6632T>A (p.Leu2211Ter) n.6659T>A c.6398T>A (p.Leu2133Ter) c.6647T>A (p.Leu2216Ter) | |
| Y | g.12846396T>C | CA415007569 | USP9Y | c.6632T>C (p.Leu2211Ser) n.6659T>C c.6398T>C (p.Leu2133Ser) c.6647T>C (p.Leu2216Ser) | |
| Y | g.12846396T>G | CA415007568 | USP9Y | c.6632T>G (p.Leu2211Ter) n.6659T>G c.6398T>G (p.Leu2133Ter) c.6647T>G (p.Leu2216Ter) | |
| Y | g.12846397A>C | CA415007571 | USP9Y | c.6633A>C (p.Leu2211Phe) n.6660A>C c.6399A>C (p.Leu2133Phe) c.6648A>C (p.Leu2216Phe) | |
| Y | g.12846397A>G | CA519905948 | USP9Y | c.6633A>G (p.Leu2211=) n.6660A>G c.6399A>G (p.Leu2133=) c.6648A>G (p.Leu2216=) | |
| Y | g.12846397A>T | CA415007573 | USP9Y | c.6633A>T (p.Leu2211Phe) n.6660A>T c.6399A>T (p.Leu2133Phe) c.6648A>T (p.Leu2216Phe) | |
| Y | g.12846398G>A | CA415007576 | USP9Y | c.6634G>A (p.Asp2212Asn) n.6661G>A c.6400G>A (p.Asp2134Asn) c.6649G>A (p.Asp2217Asn) | |
| Y | g.12846398G>C | CA415007578 | USP9Y | c.6634G>C (p.Asp2212His) n.6661G>C c.6400G>C (p.Asp2134His) c.6649G>C (p.Asp2217His) | |
| Y | g.12846398G>T | CA415007581 | USP9Y | c.6634G>T (p.Asp2212Tyr) n.6661G>T c.6400G>T (p.Asp2134Tyr) c.6649G>T (p.Asp2217Tyr) | |
| Y | g.12846399A>C | CA415007584 | USP9Y | c.6635A>C (p.Asp2212Ala) n.6662A>C c.6401A>C (p.Asp2134Ala) c.6650A>C (p.Asp2217Ala) | |
| Y | g.12846399A>G | CA415007585 | USP9Y | c.6635A>G (p.Asp2212Gly) n.6662A>G c.6401A>G (p.Asp2134Gly) c.6650A>G (p.Asp2217Gly) | |
| Y | g.12846399A>T | CA415007586 | USP9Y | c.6635A>T (p.Asp2212Val) n.6662A>T c.6401A>T (p.Asp2134Val) c.6650A>T (p.Asp2217Val) | |
| Y | g.12846400C>A | CA415007587 | USP9Y | c.6636C>A (p.Asp2212Glu) n.6663C>A c.6402C>A (p.Asp2134Glu) c.6651C>A (p.Asp2217Glu) | |
| Y | g.12846400C>G | CA415007588 | USP9Y | c.6636C>G (p.Asp2212Glu) n.6663C>G c.6402C>G (p.Asp2134Glu) c.6651C>G (p.Asp2217Glu) | |
| Y | g.12846400C>T | CA519905950 | USP9Y | c.6636C>T (p.Asp2212=) n.6663C>T c.6402C>T (p.Asp2134=) c.6651C>T (p.Asp2217=) | gnomAD v3 gnomAD v4 |
| Y | g.12846401G>A | CA10573497 | USP9Y | c.6637G>A (p.Glu2213Lys) n.6664G>A c.6403G>A (p.Glu2135Lys) c.6652G>A (p.Glu2218Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12846401G>C | CA415007591 | USP9Y | c.6637G>C (p.Glu2213Gln) n.6664G>C c.6403G>C (p.Glu2135Gln) c.6652G>C (p.Glu2218Gln) | |
| Y | g.12846401G= | CA2470561155 | USP9Y | c.6637G= (p.Glu2213=) n.6664G= c.6403G= (p.Glu2135=) c.6652G= (p.Glu2218=) | |
| Y | g.12846401G>T | CA415007593 | USP9Y | c.6637G>T (p.Glu2213Ter) n.6664G>T c.6403G>T (p.Glu2135Ter) c.6652G>T (p.Glu2218Ter) | |
| Y | g.12846402A>C | CA415007601 | USP9Y | c.6638A>C (p.Glu2213Ala) n.6665A>C c.6404A>C (p.Glu2135Ala) c.6653A>C (p.Glu2218Ala) | |
| Y | g.12846402A>G | CA415007599 | USP9Y | c.6638A>G (p.Glu2213Gly) n.6665A>G c.6404A>G (p.Glu2135Gly) c.6653A>G (p.Glu2218Gly) | |
| Y | g.12846402A>T | CA415007595 | USP9Y | c.6638A>T (p.Glu2213Val) n.6665A>T c.6404A>T (p.Glu2135Val) c.6653A>T (p.Glu2218Val) | |
| Y | g.12846403A>C | CA415007608 | USP9Y | c.6639A>C (p.Glu2213Asp) n.6666A>C c.6405A>C (p.Glu2135Asp) c.6654A>C (p.Glu2218Asp) | |
| Y | g.12846403A>G | CA519905952 | USP9Y | c.6639A>G (p.Glu2213=) n.6666A>G c.6405A>G (p.Glu2135=) c.6654A>G (p.Glu2218=) | |
| Y | g.12846403A>T | CA415007610 | USP9Y | c.6639A>T (p.Glu2213Asp) n.6666A>T c.6405A>T (p.Glu2135Asp) c.6654A>T (p.Glu2218Asp) | |
| Y | g.12846404G>A | CA415007613 | USP9Y | c.6640G>A (p.Gly2214Arg) n.6667G>A c.6406G>A (p.Gly2136Arg) c.6655G>A (p.Gly2219Arg) | |
| Y | g.12846404G>C | CA415007615 | USP9Y | c.6640G>C (p.Gly2214Arg) n.6667G>C c.6406G>C (p.Gly2136Arg) c.6655G>C (p.Gly2219Arg) | |
| Y | g.12846404G>T | CA415007617 | USP9Y | c.6640G>T (p.Gly2214Ter) n.6667G>T c.6406G>T (p.Gly2136Ter) c.6655G>T (p.Gly2219Ter) | |
| Y | g.12846405G>A | CA415007622 | USP9Y | c.6641G>A (p.Gly2214Glu) n.6668G>A c.6407G>A (p.Gly2136Glu) c.6656G>A (p.Gly2219Glu) | |
| Y | g.12846405G>C | CA415007629 | USP9Y | c.6641G>C (p.Gly2214Ala) n.6668G>C c.6407G>C (p.Gly2136Ala) c.6656G>C (p.Gly2219Ala) | |
| Y | g.12846405G>T | CA415007630 | USP9Y | c.6641G>T (p.Gly2214Val) n.6668G>T c.6407G>T (p.Gly2136Val) c.6656G>T (p.Gly2219Val) | |
| Y | g.12846406A>C | CA519905954 | USP9Y | c.6642A>C (p.Gly2214=) n.6669A>C c.6408A>C (p.Gly2136=) c.6657A>C (p.Gly2219=) | |
| Y | g.12846406A>G | CA519905955 | USP9Y | c.6642A>G (p.Gly2214=) n.6669A>G c.6408A>G (p.Gly2136=) c.6657A>G (p.Gly2219=) | |
| Y | g.12846406A>T | CA519905956 | USP9Y | c.6642A>T (p.Gly2214=) n.6669A>T c.6408A>T (p.Gly2136=) c.6657A>T (p.Gly2219=) | |
| Y | g.12846407C>A | CA415007631 | USP9Y | c.6643C>A (p.Pro2215Thr) n.6670C>A c.6409C>A (p.Pro2137Thr) c.6658C>A (p.Pro2220Thr) | |
| Y | g.12846407C>G | CA415007632 | USP9Y | c.6643C>G (p.Pro2215Ala) n.6670C>G c.6409C>G (p.Pro2137Ala) c.6658C>G (p.Pro2220Ala) | |
| Y | g.12846407C>T | CA415007635 | USP9Y | c.6643C>T (p.Pro2215Ser) n.6670C>T c.6409C>T (p.Pro2137Ser) c.6658C>T (p.Pro2220Ser) | |
| Y | g.12846408C>A | CA415007643 | USP9Y | c.6644C>A (p.Pro2215Gln) n.6671C>A c.6410C>A (p.Pro2137Gln) c.6659C>A (p.Pro2220Gln) | |
| Y | g.12846408C>G | CA415007640 | USP9Y | c.6644C>G (p.Pro2215Arg) n.6671C>G c.6410C>G (p.Pro2137Arg) c.6659C>G (p.Pro2220Arg) | |
| Y | g.12846408C>T | CA415007638 | USP9Y | c.6644C>T (p.Pro2215Leu) n.6671C>T c.6410C>T (p.Pro2137Leu) c.6659C>T (p.Pro2220Leu) | |
| Y | g.12846408_12846409del | CA2579748161 | USP9Y | c.6644_6645del (p.Pro2215ArgfsTer10) n.6671_6672del c.6410_6411del (p.Pro2137ArgfsTer10) c.6659_6660del (p.Pro2220ArgfsTer10) | |
| Y | g.12846409A>C | CA519905959 | USP9Y | c.6645A>C (p.Pro2215=) n.6672A>C c.6411A>C (p.Pro2137=) c.6660A>C (p.Pro2220=) | |
| Y | g.12846409A>G | CA519905960 | USP9Y | c.6645A>G (p.Pro2215=) n.6672A>G c.6411A>G (p.Pro2137=) c.6660A>G (p.Pro2220=) | |
| Y | g.12846409A>T | CA519905961 | USP9Y | c.6645A>T (p.Pro2215=) n.6672A>T c.6411A>T (p.Pro2137=) c.6660A>T (p.Pro2220=) | |
| Y | g.12846410G>A | CA415007649 | USP9Y | c.6646G>A (p.Gly2216Ser) n.6673G>A c.6412G>A (p.Gly2138Ser) c.6661G>A (p.Gly2221Ser) | |
| Y | g.12846410G>C | CA415007666 | USP9Y | c.6646G>C (p.Gly2216Arg) n.6673G>C c.6412G>C (p.Gly2138Arg) c.6661G>C (p.Gly2221Arg) | |
| Y | g.12846410G>T | CA415007674 | USP9Y | c.6646G>T (p.Gly2216Cys) n.6673G>T c.6412G>T (p.Gly2138Cys) c.6661G>T (p.Gly2221Cys) | |
| Y | g.12846411G>A | CA415007679 | USP9Y | c.6647G>A (p.Gly2216Asp) n.6674G>A c.6413G>A (p.Gly2138Asp) c.6662G>A (p.Gly2221Asp) | |
| Y | g.12846411G>C | CA415007680 | USP9Y | c.6647G>C (p.Gly2216Ala) n.6674G>C c.6413G>C (p.Gly2138Ala) c.6662G>C (p.Gly2221Ala) | |
| Y | g.12846411G>T | CA415007682 | USP9Y | c.6647G>T (p.Gly2216Val) n.6674G>T c.6413G>T (p.Gly2138Val) c.6662G>T (p.Gly2221Val) | |
| Y | g.12846412T>A | CA519905963 | USP9Y | c.6648T>A (p.Gly2216=) n.6675T>A c.6414T>A (p.Gly2138=) c.6663T>A (p.Gly2221=) | |
| Y | g.12846412T>C | CA519905964 | USP9Y | c.6648T>C (p.Gly2216=) n.6675T>C c.6414T>C (p.Gly2138=) c.6663T>C (p.Gly2221=) | |
| Y | g.12846412T>G | CA519905965 | USP9Y | c.6648T>G (p.Gly2216=) n.6675T>G c.6414T>G (p.Gly2138=) c.6663T>G (p.Gly2221=) | |
| Y | g.12846413C>A | CA415007686 | USP9Y | c.6649C>A (p.Pro2217Thr) n.6676C>A c.6415C>A (p.Pro2139Thr) c.6664C>A (p.Pro2222Thr) | |
| Y | g.12846413C>G | CA415007689 | USP9Y | c.6649C>G (p.Pro2217Ala) n.6676C>G c.6415C>G (p.Pro2139Ala) c.6664C>G (p.Pro2222Ala) | |
| Y | g.12846413C>T | CA415007690 | USP9Y | c.6649C>T (p.Pro2217Ser) n.6676C>T c.6415C>T (p.Pro2139Ser) c.6664C>T (p.Pro2222Ser) | |
| Y | g.12846414C>A | CA415007693 | USP9Y | c.6650C>A (p.Pro2217His) n.6677C>A c.6416C>A (p.Pro2139His) c.6665C>A (p.Pro2222His) | |
| Y | g.12846414C>G | CA415007694 | USP9Y | c.6650C>G (p.Pro2217Arg) n.6677C>G c.6416C>G (p.Pro2139Arg) c.6665C>G (p.Pro2222Arg) | |
| Y | g.12846414C>T | CA415007696 | USP9Y | c.6650C>T (p.Pro2217Leu) n.6677C>T c.6416C>T (p.Pro2139Leu) c.6665C>T (p.Pro2222Leu) | |
| Y | g.12846415T>A | CA519905969 | USP9Y | c.6651T>A (p.Pro2217=) n.6678T>A c.6417T>A (p.Pro2139=) c.6666T>A (p.Pro2222=) | |
| Y | g.12846415T>C | CA519905970 | USP9Y | c.6651T>C (p.Pro2217=) n.6678T>C c.6417T>C (p.Pro2139=) c.6666T>C (p.Pro2222=) | |
| Y | g.12846415T>G | CA519905971 | USP9Y | c.6651T>G (p.Pro2217=) n.6678T>G c.6417T>G (p.Pro2139=) c.6666T>G (p.Pro2222=) | |
| Y | g.12846416C>A | CA415007703 | USP9Y | c.6652C>A (p.Pro2218Thr) n.6679C>A c.6418C>A (p.Pro2140Thr) c.6667C>A (p.Pro2223Thr) | |
| Y | g.12846416C>G | CA415007699 | USP9Y | c.6652C>G (p.Pro2218Ala) n.6679C>G c.6418C>G (p.Pro2140Ala) c.6667C>G (p.Pro2223Ala) | |
| Y | g.12846416C>T | CA415007701 | USP9Y | c.6652C>T (p.Pro2218Ser) n.6679C>T c.6418C>T (p.Pro2140Ser) c.6667C>T (p.Pro2223Ser) | |
| Y | g.12846417C>A | CA415007705 | USP9Y | c.6653C>A (p.Pro2218Gln) n.6680C>A c.6419C>A (p.Pro2140Gln) c.6668C>A (p.Pro2223Gln) | |
| Y | g.12846417C>G | CA415007708 | USP9Y | c.6653C>G (p.Pro2218Arg) n.6680C>G c.6419C>G (p.Pro2140Arg) c.6668C>G (p.Pro2223Arg) | |
| Y | g.12846417C>T | CA415007712 | USP9Y | c.6653C>T (p.Pro2218Leu) n.6680C>T c.6419C>T (p.Pro2140Leu) c.6668C>T (p.Pro2223Leu) | |
| Y | g.12846418A>C | CA519905977 | USP9Y | c.6654A>C (p.Pro2218=) n.6681A>C c.6420A>C (p.Pro2140=) c.6669A>C (p.Pro2223=) | |
| Y | g.12846418A>G | CA519905976 | USP9Y | c.6654A>G (p.Pro2218=) n.6681A>G c.6420A>G (p.Pro2140=) c.6669A>G (p.Pro2223=) | |
| Y | g.12846418A>T | CA519905974 | USP9Y | c.6654A>T (p.Pro2218=) n.6681A>T c.6420A>T (p.Pro2140=) c.6669A>T (p.Pro2223=) | |
| Y | g.12846419A>C | CA415007715 | USP9Y | c.6655A>C (p.Ile2219Leu) n.6682A>C c.6421A>C (p.Ile2141Leu) c.6670A>C (p.Ile2224Leu) | |
| Y | g.12846419A>G | CA415007716 | USP9Y | c.6655A>G (p.Ile2219Val) n.6682A>G c.6421A>G (p.Ile2141Val) c.6670A>G (p.Ile2224Val) | |
| Y | g.12846419A>T | CA415007717 | USP9Y | c.6655A>T (p.Ile2219Phe) n.6682A>T c.6421A>T (p.Ile2141Phe) c.6670A>T (p.Ile2224Phe) | |
| Y | g.12846420T>A | CA415007720 | USP9Y | c.6656T>A (p.Ile2219Asn) n.6683T>A c.6422T>A (p.Ile2141Asn) c.6671T>A (p.Ile2224Asn) | |
| Y | g.12846420T>C | CA415007722 | USP9Y | c.6656T>C (p.Ile2219Thr) n.6683T>C c.6422T>C (p.Ile2141Thr) c.6671T>C (p.Ile2224Thr) | |
| Y | g.12846420T>G | CA415007724 | USP9Y | c.6656T>G (p.Ile2219Ser) n.6683T>G c.6422T>G (p.Ile2141Ser) c.6671T>G (p.Ile2224Ser) | |
| Y | g.12846421C>A | CA519905978 | USP9Y | c.6657C>A (p.Ile2219=) n.6684C>A c.6423C>A (p.Ile2141=) c.6672C>A (p.Ile2224=) | |
| Y | g.12846421C>G | CA415007726 | USP9Y | c.6657C>G (p.Ile2219Met) n.6684C>G c.6423C>G (p.Ile2141Met) c.6672C>G (p.Ile2224Met) | |
| Y | g.12846421C>T | CA519905980 | USP9Y | c.6657C>T (p.Ile2219=) n.6684C>T c.6423C>T (p.Ile2141=) c.6672C>T (p.Ile2224=) | |
| Y | g.12846422A>C | CA415007729 | USP9Y | c.6658A>C (p.Lys2220Gln) n.6685A>C c.6424A>C (p.Lys2142Gln) c.6673A>C (p.Lys2225Gln) | |
| Y | g.12846422A>G | CA415007733 | USP9Y | c.6658A>G (p.Lys2220Glu) n.6685A>G c.6424A>G (p.Lys2142Glu) c.6673A>G (p.Lys2225Glu) | |
| Y | g.12846422A>T | CA415007730 | USP9Y | c.6658A>T (p.Lys2220Ter) n.6685A>T c.6424A>T (p.Lys2142Ter) c.6673A>T (p.Lys2225Ter) | |
| Y | g.12846423A>C | CA415007736 | USP9Y | c.6659A>C (p.Lys2220Thr) n.6686A>C c.6425A>C (p.Lys2142Thr) c.6674A>C (p.Lys2225Thr) | |
| Y | g.12846423A>G | CA415007741 | USP9Y | c.6659A>G (p.Lys2220Arg) n.6686A>G c.6425A>G (p.Lys2142Arg) c.6674A>G (p.Lys2225Arg) | |
| Y | g.12846423A>T | CA415007738 | USP9Y | c.6659A>T (p.Lys2220Ile) n.6686A>T c.6425A>T (p.Lys2142Ile) c.6674A>T (p.Lys2225Ile) | |
| Y | g.12846424A>C | CA415007744 | USP9Y | c.6660A>C (p.Lys2220Asn) n.6687A>C c.6426A>C (p.Lys2142Asn) c.6675A>C (p.Lys2225Asn) | |
| Y | g.12846424A>G | CA519905981 | USP9Y | c.6660A>G (p.Lys2220=) n.6687A>G c.6426A>G (p.Lys2142=) c.6675A>G (p.Lys2225=) | |
| Y | g.12846424A>T | CA415007746 | USP9Y | c.6660A>T (p.Lys2220Asn) n.6687A>T c.6426A>T (p.Lys2142Asn) c.6675A>T (p.Lys2225Asn) | |
| Y | g.12846425T>A | CA415007748 | USP9Y | c.6661T>A (p.Tyr2221Asn) n.6688T>A c.6427T>A (p.Tyr2143Asn) c.6676T>A (p.Tyr2226Asn) | |
| Y | g.12846425T>C | CA415007750 | USP9Y | c.6661T>C (p.Tyr2221His) n.6688T>C c.6427T>C (p.Tyr2143His) c.6676T>C (p.Tyr2226His) | |
| Y | g.12846425T>G | CA415007752 | USP9Y | c.6661T>G (p.Tyr2221Asp) n.6688T>G c.6427T>G (p.Tyr2143Asp) c.6676T>G (p.Tyr2226Asp) | |
| Y | g.12846426A>C | CA415007755 | USP9Y | c.6662A>C (p.Tyr2221Ser) n.6689A>C c.6428A>C (p.Tyr2143Ser) c.6677A>C (p.Tyr2226Ser) | |
| Y | g.12846426A>G | CA415007760 | USP9Y | c.6662A>G (p.Tyr2221Cys) n.6689A>G c.6428A>G (p.Tyr2143Cys) c.6677A>G (p.Tyr2226Cys) | |
| Y | g.12846426A>T | CA415007763 | USP9Y | c.6662A>T (p.Tyr2221Phe) n.6689A>T c.6428A>T (p.Tyr2143Phe) c.6677A>T (p.Tyr2226Phe) | |
| Y | g.12846427T>A | CA415007766 | USP9Y | c.6663T>A (p.Tyr2221Ter) n.6690T>A c.6429T>A (p.Tyr2143Ter) c.6678T>A (p.Tyr2226Ter) | |
| Y | g.12846427T>C | CA519905982 | USP9Y | c.6663T>C (p.Tyr2221=) n.6690T>C c.6429T>C (p.Tyr2143=) c.6678T>C (p.Tyr2226=) | gnomAD v3 gnomAD v4 |
| Y | g.12846427T>G | CA415007768 | USP9Y | c.6663T>G (p.Tyr2221Ter) n.6690T>G c.6429T>G (p.Tyr2143Ter) c.6678T>G (p.Tyr2226Ter) | |
| Y | g.12846428C>A | CA415007771 | USP9Y | c.6664C>A (p.Gln2222Lys) n.6691C>A c.6430C>A (p.Gln2144Lys) c.6679C>A (p.Gln2227Lys) | |
| Y | g.12846428C>G | CA415007772 | USP9Y | c.6664C>G (p.Gln2222Glu) n.6691C>G c.6430C>G (p.Gln2144Glu) c.6679C>G (p.Gln2227Glu) | |
| Y | g.12846428C>T | CA415007774 | USP9Y | c.6664C>T (p.Gln2222Ter) n.6691C>T c.6430C>T (p.Gln2144Ter) c.6679C>T (p.Gln2227Ter) | |
| Y | g.12846429A>C | CA415007776 | USP9Y | c.6665A>C (p.Gln2222Pro) n.6692A>C c.6431A>C (p.Gln2144Pro) c.6680A>C (p.Gln2227Pro) | |
| Y | g.12846429A>G | CA415007779 | USP9Y | c.6665A>G (p.Gln2222Arg) n.6692A>G c.6431A>G (p.Gln2144Arg) c.6680A>G (p.Gln2227Arg) | |
| Y | g.12846429A>T | CA415007780 | USP9Y | c.6665A>T (p.Gln2222Leu) n.6692A>T c.6431A>T (p.Gln2144Leu) c.6680A>T (p.Gln2227Leu) | |
| Y | g.12846430G>A | CA519905983 | USP9Y | c.6666G>A (p.Gln2222=) n.6693G>A c.6432G>A (p.Gln2144=) c.6681G>A (p.Gln2227=) | |
| Y | g.12846430G>C | CA415007782 | USP9Y | c.6666G>C (p.Gln2222His) n.6693G>C c.6432G>C (p.Gln2144His) c.6681G>C (p.Gln2227His) | |
| Y | g.12846430G>T | CA415007785 | USP9Y | c.6666G>T (p.Gln2222His) n.6693G>T c.6432G>T (p.Gln2144His) c.6681G>T (p.Gln2227His) | |
| Y | g.12846431T>A | CA415007787 | USP9Y | c.6667T>A (p.Tyr2223Asn) n.6694T>A c.6433T>A (p.Tyr2145Asn) c.6682T>A (p.Tyr2228Asn) | |
| Y | g.12846431T>C | CA415007790 | USP9Y | c.6667T>C (p.Tyr2223His) n.6694T>C c.6433T>C (p.Tyr2145His) c.6682T>C (p.Tyr2228His) | |
| Y | g.12846431T>G | CA415007791 | USP9Y | c.6667T>G (p.Tyr2223Asp) n.6694T>G c.6433T>G (p.Tyr2145Asp) c.6682T>G (p.Tyr2228Asp) | |
| Y | g.12846432A>C | CA415007793 | USP9Y | c.6668A>C (p.Tyr2223Ser) n.6695A>C c.6434A>C (p.Tyr2145Ser) c.6683A>C (p.Tyr2228Ser) | |
| Y | g.12846432A>G | CA415007795 | USP9Y | c.6668A>G (p.Tyr2223Cys) n.6695A>G c.6434A>G (p.Tyr2145Cys) c.6683A>G (p.Tyr2228Cys) | |
| Y | g.12846432A>T | CA415007797 | USP9Y | c.6668A>T (p.Tyr2223Phe) n.6695A>T c.6434A>T (p.Tyr2145Phe) c.6683A>T (p.Tyr2228Phe) | |
| Y | g.12846433T>A | CA415007800 | USP9Y | c.6669T>A (p.Tyr2223Ter) n.6696T>A c.6435T>A (p.Tyr2145Ter) c.6684T>A (p.Tyr2228Ter) | |
| Y | g.12846433T>C | CA519905987 | USP9Y | c.6669T>C (p.Tyr2223=) n.6696T>C c.6435T>C (p.Tyr2145=) c.6684T>C (p.Tyr2228=) | |
| Y | g.12846433T>G | CA415007801 | USP9Y | c.6669T>G (p.Tyr2223Ter) n.6696T>G c.6435T>G (p.Tyr2145Ter) c.6684T>G (p.Tyr2228Ter) | |
| Y | g.12846434G>A | CA415007803 | USP9Y | c.6670G>A (p.Ala2224Thr) n.6697G>A c.6436G>A (p.Ala2146Thr) c.6685G>A (p.Ala2229Thr) | |
| Y | g.12846434G>C | CA415007804 | USP9Y | c.6670G>C (p.Ala2224Pro) n.6697G>C c.6436G>C (p.Ala2146Pro) c.6685G>C (p.Ala2229Pro) | |
| Y | g.12846434G>T | CA415007806 | USP9Y | c.6670G>T (p.Ala2224Ser) n.6697G>T c.6436G>T (p.Ala2146Ser) c.6685G>T (p.Ala2229Ser) |