UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.12790383C>A | CA337720145 | USP9Y | c.3562-24C>A (n.3562-24C>A) n.3574-24C>A c.3328-24C>A (n.3328-24C>A) c.3577-24C>A (n.3577-24C>A) | dbSNP gnomAD v2 |
| Y | g.12790383C= | CA2470558123 | USP9Y | c.3562-24C= (n.3562-24C=) n.3574-24C= c.3328-24C= (n.3328-24C=) c.3577-24C= (n.3577-24C=) | |
| Y | g.12790383C>T | CA10573262 | USP9Y | c.3562-24C>T (n.3562-24C>T) n.3574-24C>T c.3328-24C>T (n.3328-24C>T) c.3577-24C>T (n.3577-24C>T) | dbSNP ExAC gnomAD v2 |
| Y | g.12790384del | CA2766241539 | USP9Y | c.3562-23del (n.3562-23del) n.3574-23del c.3328-23del (n.3328-23del) c.3577-23del (n.3577-23del) | |
| Y | g.12790384G>A | CA2579747867 | USP9Y | c.3562-23G>A (n.3562-23G>A) n.3574-23G>A c.3328-23G>A (n.3328-23G>A) c.3577-23G>A (n.3577-23G>A) | |
| Y | g.12790384G>T | CA2766241540 | USP9Y | c.3562-23G>T (n.3562-23G>T) n.3574-23G>T c.3328-23G>T (n.3328-23G>T) c.3577-23G>T (n.3577-23G>T) | |
| Y | g.12790396A>T | CA2579747868 | USP9Y | c.3562-11A>T (n.3562-11A>T) n.3574-11A>T c.3328-11A>T (n.3328-11A>T) c.3577-11A>T (n.3577-11A>T) | |
| Y | g.12790403dup | CA2505323891 | USP9Y | c.3562-4dup (n.3562-4dup) n.3574-4dup c.3328-4dup (n.3328-4dup) c.3577-4dup (n.3577-4dup) | |
| Y | g.12790404C>T | CA2561975816 | USP9Y | c.3562-3C>T (n.3562-3C>T) n.3574-3C>T c.3328-3C>T (n.3328-3C>T) c.3577-3C>T (n.3577-3C>T) | |
| Y | g.12790405A>C | CA414983355 | USP9Y | c.3562-2A>C (n.3562-2A>C) n.3574-2A>C c.3328-2A>C (n.3328-2A>C) c.3577-2A>C (n.3577-2A>C) | |
| Y | g.12790405A>G | CA414983356 | USP9Y | c.3562-2A>G (n.3562-2A>G) n.3574-2A>G c.3328-2A>G (n.3328-2A>G) c.3577-2A>G (n.3577-2A>G) | |
| Y | g.12790405A>T | CA414983357 | USP9Y | c.3562-2A>T (n.3562-2A>T) n.3574-2A>T c.3328-2A>T (n.3328-2A>T) c.3577-2A>T (n.3577-2A>T) | |
| Y | g.12790406G>A | CA414983359 | USP9Y | c.3562-1G>A (n.3562-1G>A) n.3574-1G>A c.3328-1G>A (n.3328-1G>A) c.3577-1G>A (n.3577-1G>A) | |
| Y | g.12790406G>C | CA414983360 | USP9Y | c.3562-1G>C (n.3562-1G>C) n.3574-1G>C c.3328-1G>C (n.3328-1G>C) c.3577-1G>C (n.3577-1G>C) | |
| Y | g.12790406G>T | CA414983361 | USP9Y | c.3562-1G>T (n.3562-1G>T) n.3574-1G>T c.3328-1G>T (n.3328-1G>T) c.3577-1G>T (n.3577-1G>T) | |
| Y | g.12790407A>C | CA414983370 | USP9Y | c.3562A>C (p.Ile1188Leu) n.3574A>C c.3328A>C (p.Ile1110Leu) c.3577A>C (p.Ile1193Leu) | |
| Y | g.12790407A>G | CA414983367 | USP9Y | c.3562A>G (p.Ile1188Val) n.3574A>G c.3328A>G (p.Ile1110Val) c.3577A>G (p.Ile1193Val) | |
| Y | g.12790407A>T | CA414983364 | USP9Y | c.3562A>T (p.Ile1188Phe) n.3574A>T c.3328A>T (p.Ile1110Phe) c.3577A>T (p.Ile1193Phe) | |
| Y | g.12790408T>A | CA414983373 | USP9Y | c.3563T>A (p.Ile1188Asn) n.3575T>A c.3329T>A (p.Ile1110Asn) c.3578T>A (p.Ile1193Asn) | |
| Y | g.12790408T>C | CA414983375 | USP9Y | c.3563T>C (p.Ile1188Thr) n.3575T>C c.3329T>C (p.Ile1110Thr) c.3578T>C (p.Ile1193Thr) | |
| Y | g.12790408T>G | CA414983377 | USP9Y | c.3563T>G (p.Ile1188Ser) n.3575T>G c.3329T>G (p.Ile1110Ser) c.3578T>G (p.Ile1193Ser) | |
| Y | g.12790409T>A | CA519859189 | USP9Y | c.3564T>A (p.Ile1188=) n.3576T>A c.3330T>A (p.Ile1110=) c.3579T>A (p.Ile1193=) | |
| Y | g.12790409T>C | CA519859197 | USP9Y | c.3564T>C (p.Ile1188=) n.3576T>C c.3330T>C (p.Ile1110=) c.3579T>C (p.Ile1193=) | |
| Y | g.12790409T>G | CA414983380 | USP9Y | c.3564T>G (p.Ile1188Met) n.3576T>G c.3330T>G (p.Ile1110Met) c.3579T>G (p.Ile1193Met) | |
| Y | g.12790410A>C | CA414983383 | USP9Y | c.3565A>C (p.Asn1189His) n.3577A>C c.3331A>C (p.Asn1111His) c.3580A>C (p.Asn1194His) | |
| Y | g.12790410A>G | CA414983386 | USP9Y | c.3565A>G (p.Asn1189Asp) n.3577A>G c.3331A>G (p.Asn1111Asp) c.3580A>G (p.Asn1194Asp) | |
| Y | g.12790410A>T | CA414983388 | USP9Y | c.3565A>T (p.Asn1189Tyr) n.3577A>T c.3331A>T (p.Asn1111Tyr) c.3580A>T (p.Asn1194Tyr) | |
| Y | g.12790411del | CA2579747869 | USP9Y | c.3566del (p.Asn1189ThrfsTer?) n.3578del c.3332del (p.Asn1111ThrfsTer?) c.3581del (p.Asn1194ThrfsTer?) | |
| Y | g.12790411A>C | CA414983392 | USP9Y | c.3566A>C (p.Asn1189Thr) n.3578A>C c.3332A>C (p.Asn1111Thr) c.3581A>C (p.Asn1194Thr) | |
| Y | g.12790411A>G | CA414983395 | USP9Y | c.3566A>G (p.Asn1189Ser) n.3578A>G c.3332A>G (p.Asn1111Ser) c.3581A>G (p.Asn1194Ser) | |
| Y | g.12790411A>T | CA414983400 | USP9Y | c.3566A>T (p.Asn1189Ile) n.3578A>T c.3332A>T (p.Asn1111Ile) c.3581A>T (p.Asn1194Ile) | |
| Y | g.12790412C>A | CA414983402 | USP9Y | c.3567C>A (p.Asn1189Lys) n.3579C>A c.3333C>A (p.Asn1111Lys) c.3582C>A (p.Asn1194Lys) | |
| Y | g.12790412C>G | CA414983405 | USP9Y | c.3567C>G (p.Asn1189Lys) n.3579C>G c.3333C>G (p.Asn1111Lys) c.3582C>G (p.Asn1194Lys) | |
| Y | g.12790412C>T | CA519859236 | USP9Y | c.3567C>T (p.Asn1189=) n.3579C>T c.3333C>T (p.Asn1111=) c.3582C>T (p.Asn1194=) | |
| Y | g.12790413C>A | CA414983407 | USP9Y | c.3568C>A (p.Gln1190Lys) n.3580C>A c.3334C>A (p.Gln1112Lys) c.3583C>A (p.Gln1195Lys) | |
| Y | g.12790413C>G | CA414983421 | USP9Y | c.3568C>G (p.Gln1190Glu) n.3580C>G c.3334C>G (p.Gln1112Glu) c.3583C>G (p.Gln1195Glu) | |
| Y | g.12790413C>T | CA414983418 | USP9Y | c.3568C>T (p.Gln1190Ter) n.3580C>T c.3334C>T (p.Gln1112Ter) c.3583C>T (p.Gln1195Ter) | |
| Y | g.12790414A>C | CA414983425 | USP9Y | c.3569A>C (p.Gln1190Pro) n.3581A>C c.3335A>C (p.Gln1112Pro) c.3584A>C (p.Gln1195Pro) | |
| Y | g.12790414A>G | CA414983430 | USP9Y | c.3569A>G (p.Gln1190Arg) n.3581A>G c.3335A>G (p.Gln1112Arg) c.3584A>G (p.Gln1195Arg) | |
| Y | g.12790414A>T | CA414983427 | USP9Y | c.3569A>T (p.Gln1190Leu) n.3581A>T c.3335A>T (p.Gln1112Leu) c.3584A>T (p.Gln1195Leu) | |
| Y | g.12790415A>C | CA414983433 | USP9Y | c.3570A>C (p.Gln1190His) n.3582A>C c.3336A>C (p.Gln1112His) c.3585A>C (p.Gln1195His) | |
| Y | g.12790415A>G | CA519859255 | USP9Y | c.3570A>G (p.Gln1190=) n.3582A>G c.3336A>G (p.Gln1112=) c.3585A>G (p.Gln1195=) | |
| Y | g.12790415A>T | CA414983436 | USP9Y | c.3570A>T (p.Gln1190His) n.3582A>T c.3336A>T (p.Gln1112His) c.3585A>T (p.Gln1195His) | |
| Y | g.12790416G>A | CA414983446 | USP9Y | c.3571G>A (p.Val1191Ile) n.3583G>A c.3337G>A (p.Val1113Ile) c.3586G>A (p.Val1196Ile) | |
| Y | g.12790416G>C | CA414983450 | USP9Y | c.3571G>C (p.Val1191Leu) n.3583G>C c.3337G>C (p.Val1113Leu) c.3586G>C (p.Val1196Leu) | |
| Y | g.12790416G>T | CA414983447 | USP9Y | c.3571G>T (p.Val1191Phe) n.3583G>T c.3337G>T (p.Val1113Phe) c.3586G>T (p.Val1196Phe) | |
| Y | g.12790417T>A | CA414983452 | USP9Y | c.3572T>A (p.Val1191Asp) n.3584T>A c.3338T>A (p.Val1113Asp) c.3587T>A (p.Val1196Asp) | |
| Y | g.12790417T>C | CA414983453 | USP9Y | c.3572T>C (p.Val1191Ala) n.3584T>C c.3338T>C (p.Val1113Ala) c.3587T>C (p.Val1196Ala) | |
| Y | g.12790417T>G | CA414983454 | USP9Y | c.3572T>G (p.Val1191Gly) n.3584T>G c.3338T>G (p.Val1113Gly) c.3587T>G (p.Val1196Gly) | |
| Y | g.12790418T>A | CA519859267 | USP9Y | c.3573T>A (p.Val1191=) n.3585T>A c.3339T>A (p.Val1113=) c.3588T>A (p.Val1196=) | |
| Y | g.12790418T>C | CA519859271 | USP9Y | c.3573T>C (p.Val1191=) n.3585T>C c.3339T>C (p.Val1113=) c.3588T>C (p.Val1196=) | |
| Y | g.12790418T>G | CA519859269 | USP9Y | c.3573T>G (p.Val1191=) n.3585T>G c.3339T>G (p.Val1113=) c.3588T>G (p.Val1196=) | |
| Y | g.12790419A>C | CA414983455 | USP9Y | c.3574A>C (p.Thr1192Pro) n.3586A>C c.3340A>C (p.Thr1114Pro) c.3589A>C (p.Thr1197Pro) | |
| Y | g.12790419A>G | CA414983458 | USP9Y | c.3574A>G (p.Thr1192Ala) n.3586A>G c.3340A>G (p.Thr1114Ala) c.3589A>G (p.Thr1197Ala) | |
| Y | g.12790419A>T | CA414983459 | USP9Y | c.3574A>T (p.Thr1192Ser) n.3586A>T c.3340A>T (p.Thr1114Ser) c.3589A>T (p.Thr1197Ser) | |
| Y | g.12790420C>A | CA414983462 | USP9Y | c.3575C>A (p.Thr1192Asn) n.3587C>A c.3341C>A (p.Thr1114Asn) c.3590C>A (p.Thr1197Asn) | |
| Y | g.12790420C= | CA2470558124 | USP9Y | c.3575C= (p.Thr1192=) n.3587C= c.3341C= (p.Thr1114=) c.3590C= (p.Thr1197=) | |
| Y | g.12790420C>G | CA414983464 | USP9Y | c.3575C>G (p.Thr1192Ser) n.3587C>G c.3341C>G (p.Thr1114Ser) c.3590C>G (p.Thr1197Ser) | |
| Y | g.12790420C>T | CA414983467 | USP9Y | c.3575C>T (p.Thr1192Ile) n.3587C>T c.3341C>T (p.Thr1114Ile) c.3590C>T (p.Thr1197Ile) | dbSNP gnomAD v2 |
| Y | g.12790421T>A | CA519859288 | USP9Y | c.3576T>A (p.Thr1192=) n.3588T>A c.3342T>A (p.Thr1114=) c.3591T>A (p.Thr1197=) | |
| Y | g.12790421T>C | CA519859292 | USP9Y | c.3576T>C (p.Thr1192=) n.3588T>C c.3342T>C (p.Thr1114=) c.3591T>C (p.Thr1197=) | |
| Y | g.12790421T>G | CA519859293 | USP9Y | c.3576T>G (p.Thr1192=) n.3588T>G c.3342T>G (p.Thr1114=) c.3591T>G (p.Thr1197=) | |
| Y | g.12790422C>A | CA414983470 | USP9Y | c.3577C>A (p.His1193Asn) n.3589C>A c.3343C>A (p.His1115Asn) c.3592C>A (p.His1198Asn) | |
| Y | g.12790422C>G | CA414983469 | USP9Y | c.3577C>G (p.His1193Asp) n.3589C>G c.3343C>G (p.His1115Asp) c.3592C>G (p.His1198Asp) | |
| Y | g.12790422C>T | CA414983468 | USP9Y | c.3577C>T (p.His1193Tyr) n.3589C>T c.3343C>T (p.His1115Tyr) c.3592C>T (p.His1198Tyr) | |
| Y | g.12790423A>C | CA414983471 | USP9Y | c.3578A>C (p.His1193Pro) n.3590A>C c.3344A>C (p.His1115Pro) c.3593A>C (p.His1198Pro) | |
| Y | g.12790423A>G | CA414983473 | USP9Y | c.3578A>G (p.His1193Arg) n.3590A>G c.3344A>G (p.His1115Arg) c.3593A>G (p.His1198Arg) | |
| Y | g.12790423A>T | CA414983475 | USP9Y | c.3578A>T (p.His1193Leu) n.3590A>T c.3344A>T (p.His1115Leu) c.3593A>T (p.His1198Leu) | |
| Y | g.12790424T>A | CA414983477 | USP9Y | c.3579T>A (p.His1193Gln) n.3591T>A c.3345T>A (p.His1115Gln) c.3594T>A (p.His1198Gln) | |
| Y | g.12790424T>C | CA519859327 | USP9Y | c.3579T>C (p.His1193=) n.3591T>C c.3345T>C (p.His1115=) c.3594T>C (p.His1198=) | |
| Y | g.12790424T>G | CA414983478 | USP9Y | c.3579T>G (p.His1193Gln) n.3591T>G c.3345T>G (p.His1115Gln) c.3594T>G (p.His1198Gln) | |
| Y | g.12790425G>A | CA414983480 | USP9Y | c.3580G>A (p.Asp1194Asn) n.3592G>A c.3346G>A (p.Asp1116Asn) c.3595G>A (p.Asp1199Asn) | |
| Y | g.12790425G>C | CA414983482 | USP9Y | c.3580G>C (p.Asp1194His) n.3592G>C c.3346G>C (p.Asp1116His) c.3595G>C (p.Asp1199His) | |
| Y | g.12790425G>T | CA414983489 | USP9Y | c.3580G>T (p.Asp1194Tyr) n.3592G>T c.3346G>T (p.Asp1116Tyr) c.3595G>T (p.Asp1199Tyr) | |
| Y | g.12790426A>C | CA414983494 | USP9Y | c.3581A>C (p.Asp1194Ala) n.3593A>C c.3347A>C (p.Asp1116Ala) c.3596A>C (p.Asp1199Ala) | |
| Y | g.12790426A>G | CA414983499 | USP9Y | c.3581A>G (p.Asp1194Gly) n.3593A>G c.3347A>G (p.Asp1116Gly) c.3596A>G (p.Asp1199Gly) | |
| Y | g.12790426A>T | CA414983501 | USP9Y | c.3581A>T (p.Asp1194Val) n.3593A>T c.3347A>T (p.Asp1116Val) c.3596A>T (p.Asp1199Val) | |
| Y | g.12790427T>A | CA414983511 | USP9Y | c.3582T>A (p.Asp1194Glu) n.3594T>A c.3348T>A (p.Asp1116Glu) c.3597T>A (p.Asp1199Glu) | |
| Y | g.12790427T>C | CA519859388 | USP9Y | c.3582T>C (p.Asp1194=) n.3594T>C c.3348T>C (p.Asp1116=) c.3597T>C (p.Asp1199=) | |
| Y | g.12790427T>G | CA414983504 | USP9Y | c.3582T>G (p.Asp1194Glu) n.3594T>G c.3348T>G (p.Asp1116Glu) c.3597T>G (p.Asp1199Glu) | |
| Y | g.12790428C>A | CA414983512 | USP9Y | c.3583C>A (p.Gln1195Lys) n.3595C>A c.3349C>A (p.Gln1117Lys) c.3598C>A (p.Gln1200Lys) | |
| Y | g.12790428C>G | CA414983513 | USP9Y | c.3583C>G (p.Gln1195Glu) n.3595C>G c.3349C>G (p.Gln1117Glu) c.3598C>G (p.Gln1200Glu) | |
| Y | g.12790428C>T | CA414983514 | USP9Y | c.3583C>T (p.Gln1195Ter) n.3595C>T c.3349C>T (p.Gln1117Ter) c.3598C>T (p.Gln1200Ter) | |
| Y | g.12790429A>C | CA414983517 | USP9Y | c.3584A>C (p.Gln1195Pro) n.3596A>C c.3350A>C (p.Gln1117Pro) c.3599A>C (p.Gln1200Pro) | |
| Y | g.12790429A>G | CA414983522 | USP9Y | c.3584A>G (p.Gln1195Arg) n.3596A>G c.3350A>G (p.Gln1117Arg) c.3599A>G (p.Gln1200Arg) | |
| Y | g.12790429A>T | CA414983525 | USP9Y | c.3584A>T (p.Gln1195Leu) n.3596A>T c.3350A>T (p.Gln1117Leu) c.3599A>T (p.Gln1200Leu) | |
| Y | g.12790430A>C | CA414983530 | USP9Y | c.3585A>C (p.Gln1195His) n.3597A>C c.3351A>C (p.Gln1117His) c.3600A>C (p.Gln1200His) | |
| Y | g.12790430A>G | CA519859409 | USP9Y | c.3585A>G (p.Gln1195=) n.3597A>G c.3351A>G (p.Gln1117=) c.3600A>G (p.Gln1200=) | |
| Y | g.12790430A>T | CA414983532 | USP9Y | c.3585A>T (p.Gln1195His) n.3597A>T c.3351A>T (p.Gln1117His) c.3600A>T (p.Gln1200His) | |
| Y | g.12790431G>A | CA414983535 | USP9Y | c.3586G>A (p.Ala1196Thr) n.3598G>A c.3352G>A (p.Ala1118Thr) c.3601G>A (p.Ala1201Thr) | |
| Y | g.12790431G>C | CA414983538 | USP9Y | c.3586G>C (p.Ala1196Pro) n.3598G>C c.3352G>C (p.Ala1118Pro) c.3601G>C (p.Ala1201Pro) | |
| Y | g.12790431G>T | CA414983541 | USP9Y | c.3586G>T (p.Ala1196Ser) n.3598G>T c.3352G>T (p.Ala1118Ser) c.3601G>T (p.Ala1201Ser) | |
| Y | g.12790432C>A | CA414983557 | USP9Y | c.3587C>A (p.Ala1196Glu) n.3599C>A c.3353C>A (p.Ala1118Glu) c.3602C>A (p.Ala1201Glu) | |
| Y | g.12790432C>G | CA414983554 | USP9Y | c.3587C>G (p.Ala1196Gly) n.3599C>G c.3353C>G (p.Ala1118Gly) c.3602C>G (p.Ala1201Gly) | |
| Y | g.12790432C>T | CA414983552 | USP9Y | c.3587C>T (p.Ala1196Val) n.3599C>T c.3353C>T (p.Ala1118Val) c.3602C>T (p.Ala1201Val) | |
| Y | g.12790433A>C | CA519859444 | USP9Y | c.3588A>C (p.Ala1196=) n.3600A>C c.3354A>C (p.Ala1118=) c.3603A>C (p.Ala1201=) | |
| Y | g.12790433A>G | CA519859447 | USP9Y | c.3588A>G (p.Ala1196=) n.3600A>G c.3354A>G (p.Ala1118=) c.3603A>G (p.Ala1201=) | |
| Y | g.12790433A>T | CA519859452 | USP9Y | c.3588A>T (p.Ala1196=) n.3600A>T c.3354A>T (p.Ala1118=) c.3603A>T (p.Ala1201=) | |
| Y | g.12790434G>A | CA414983560 | USP9Y | c.3589G>A (p.Val1197Met) n.3601G>A c.3355G>A (p.Val1119Met) c.3604G>A (p.Val1202Met) | |
| Y | g.12790434G>C | CA414983563 | USP9Y | c.3589G>C (p.Val1197Leu) n.3601G>C c.3355G>C (p.Val1119Leu) c.3604G>C (p.Val1202Leu) | |
| Y | g.12790434G>T | CA414983565 | USP9Y | c.3589G>T (p.Val1197Leu) n.3601G>T c.3355G>T (p.Val1119Leu) c.3604G>T (p.Val1202Leu) | |
| Y | g.12790435T>A | CA414983566 | USP9Y | c.3590T>A (p.Val1197Glu) n.3602T>A c.3356T>A (p.Val1119Glu) c.3605T>A (p.Val1202Glu) | |
| Y | g.12790435T>C | CA414983569 | USP9Y | c.3590T>C (p.Val1197Ala) n.3602T>C c.3356T>C (p.Val1119Ala) c.3605T>C (p.Val1202Ala) | |
| Y | g.12790435T>G | CA414983571 | USP9Y | c.3590T>G (p.Val1197Gly) n.3602T>G c.3356T>G (p.Val1119Gly) c.3605T>G (p.Val1202Gly) | |
| Y | g.12790436G>A | CA519859474 | USP9Y | c.3591G>A (p.Val1197=) n.3603G>A c.3357G>A (p.Val1119=) c.3606G>A (p.Val1202=) | |
| Y | g.12790436G>C | CA519859477 | USP9Y | c.3591G>C (p.Val1197=) n.3603G>C c.3357G>C (p.Val1119=) c.3606G>C (p.Val1202=) | |
| Y | g.12790436G>T | CA519859481 | USP9Y | c.3591G>T (p.Val1197=) n.3603G>T c.3357G>T (p.Val1119=) c.3606G>T (p.Val1202=) | |
| Y | g.12790437G>A | CA414983574 | USP9Y | c.3592G>A (p.Val1198Met) n.3604G>A c.3358G>A (p.Val1120Met) c.3607G>A (p.Val1203Met) | |
| Y | g.12790437G>C | CA414983575 | USP9Y | c.3592G>C (p.Val1198Leu) n.3604G>C c.3358G>C (p.Val1120Leu) c.3607G>C (p.Val1203Leu) | |
| Y | g.12790437G>T | CA414983578 | USP9Y | c.3592G>T (p.Val1198Leu) n.3604G>T c.3358G>T (p.Val1120Leu) c.3607G>T (p.Val1203Leu) | |
| Y | g.12790438T>A | CA414983580 | USP9Y | c.3593T>A (p.Val1198Glu) n.3605T>A c.3359T>A (p.Val1120Glu) c.3608T>A (p.Val1203Glu) | |
| Y | g.12790438T>C | CA414983581 | USP9Y | c.3593T>C (p.Val1198Ala) n.3605T>C c.3359T>C (p.Val1120Ala) c.3608T>C (p.Val1203Ala) | |
| Y | g.12790438T>G | CA414983582 | USP9Y | c.3593T>G (p.Val1198Gly) n.3605T>G c.3359T>G (p.Val1120Gly) c.3608T>G (p.Val1203Gly) | |
| Y | g.12790439G>A | CA519859492 | USP9Y | c.3594G>A (p.Val1198=) n.3606G>A c.3360G>A (p.Val1120=) c.3609G>A (p.Val1203=) | |
| Y | g.12790439G>C | CA519859502 | USP9Y | c.3594G>C (p.Val1198=) n.3606G>C c.3360G>C (p.Val1120=) c.3609G>C (p.Val1203=) | |
| Y | g.12790439G>T | CA519859506 | USP9Y | c.3594G>T (p.Val1198=) n.3606G>T c.3360G>T (p.Val1120=) c.3609G>T (p.Val1203=) | |
| Y | g.12790440C>A | CA414983584 | USP9Y | c.3595C>A (p.Leu1199Ile) n.3607C>A c.3361C>A (p.Leu1121Ile) c.3610C>A (p.Leu1204Ile) | |
| Y | g.12790440C>G | CA414983586 | USP9Y | c.3595C>G (p.Leu1199Val) n.3607C>G c.3361C>G (p.Leu1121Val) c.3610C>G (p.Leu1204Val) | |
| Y | g.12790440C>T | CA519859528 | USP9Y | c.3595C>T (p.Leu1199=) n.3607C>T c.3361C>T (p.Leu1121=) c.3610C>T (p.Leu1204=) | |
| Y | g.12790441T>A | CA414983589 | USP9Y | c.3596T>A (p.Leu1199Gln) n.3608T>A c.3362T>A (p.Leu1121Gln) c.3611T>A (p.Leu1204Gln) | |
| Y | g.12790441T>C | CA414983594 | USP9Y | c.3596T>C (p.Leu1199Pro) n.3608T>C c.3362T>C (p.Leu1121Pro) c.3611T>C (p.Leu1204Pro) | |
| Y | g.12790441T>G | CA414983591 | USP9Y | c.3596T>G (p.Leu1199Arg) n.3608T>G c.3362T>G (p.Leu1121Arg) c.3611T>G (p.Leu1204Arg) | |
| Y | g.12790442A>C | CA519859539 | USP9Y | c.3597A>C (p.Leu1199=) n.3609A>C c.3363A>C (p.Leu1121=) c.3612A>C (p.Leu1204=) | |
| Y | g.12790442A>G | CA519859543 | USP9Y | c.3597A>G (p.Leu1199=) n.3609A>G c.3363A>G (p.Leu1121=) c.3612A>G (p.Leu1204=) | |
| Y | g.12790442A>T | CA519859545 | USP9Y | c.3597A>T (p.Leu1199=) n.3609A>T c.3363A>T (p.Leu1121=) c.3612A>T (p.Leu1204=) | |
| Y | g.12790443C>A | CA414983596 | USP9Y | c.3598C>A (p.Gln1200Lys) n.3610C>A c.3364C>A (p.Gln1122Lys) c.3613C>A (p.Gln1205Lys) | |
| Y | g.12790443C>G | CA414983598 | USP9Y | c.3598C>G (p.Gln1200Glu) n.3610C>G c.3364C>G (p.Gln1122Glu) c.3613C>G (p.Gln1205Glu) | COSMIC |
| Y | g.12790443C>T | CA414983600 | USP9Y | c.3598C>T (p.Gln1200Ter) n.3610C>T c.3364C>T (p.Gln1122Ter) c.3613C>T (p.Gln1205Ter) | |
| Y | g.12790444A>C | CA414983602 | USP9Y | c.3599A>C (p.Gln1200Pro) n.3611A>C c.3365A>C (p.Gln1122Pro) c.3614A>C (p.Gln1205Pro) | |
| Y | g.12790444A>G | CA414983603 | USP9Y | c.3599A>G (p.Gln1200Arg) n.3611A>G c.3365A>G (p.Gln1122Arg) c.3614A>G (p.Gln1205Arg) | |
| Y | g.12790444A>T | CA414983605 | USP9Y | c.3599A>T (p.Gln1200Leu) n.3611A>T c.3365A>T (p.Gln1122Leu) c.3614A>T (p.Gln1205Leu) | |
| Y | g.12790445A>C | CA414983608 | USP9Y | c.3600A>C (p.Gln1200His) n.3612A>C c.3366A>C (p.Gln1122His) c.3615A>C (p.Gln1205His) | |
| Y | g.12790445A>G | CA519859574 | USP9Y | c.3600A>G (p.Gln1200=) n.3612A>G c.3366A>G (p.Gln1122=) c.3615A>G (p.Gln1205=) | |
| Y | g.12790445A>T | CA414983610 | USP9Y | c.3600A>T (p.Gln1200His) n.3612A>T c.3366A>T (p.Gln1122His) c.3615A>T (p.Gln1205His) | |
| Y | g.12790446A>C | CA414983612 | USP9Y | c.3601A>C (p.Ser1201Arg) n.3613A>C c.3367A>C (p.Ser1123Arg) c.3616A>C (p.Ser1206Arg) | |
| Y | g.12790446A>G | CA414983614 | USP9Y | c.3601A>G (p.Ser1201Gly) n.3613A>G c.3367A>G (p.Ser1123Gly) c.3616A>G (p.Ser1206Gly) | |
| Y | g.12790446A>T | CA414983620 | USP9Y | c.3601A>T (p.Ser1201Cys) n.3613A>T c.3367A>T (p.Ser1123Cys) c.3616A>T (p.Ser1206Cys) | |
| Y | g.12790447G>A | CA414983622 | USP9Y | c.3602G>A (p.Ser1201Asn) n.3614G>A c.3368G>A (p.Ser1123Asn) c.3617G>A (p.Ser1206Asn) | |
| Y | g.12790447G>C | CA414983624 | USP9Y | c.3602G>C (p.Ser1201Thr) n.3614G>C c.3368G>C (p.Ser1123Thr) c.3617G>C (p.Ser1206Thr) | |
| Y | g.12790447G>T | CA414983623 | USP9Y | c.3602G>T (p.Ser1201Ile) n.3614G>T c.3368G>T (p.Ser1123Ile) c.3617G>T (p.Ser1206Ile) | gnomAD v3 gnomAD v4 |
| Y | g.12790448T>A | CA414983625 | USP9Y | c.3603T>A (p.Ser1201Arg) n.3615T>A c.3369T>A (p.Ser1123Arg) c.3618T>A (p.Ser1206Arg) | |
| Y | g.12790448T>C | CA519859618 | USP9Y | c.3603T>C (p.Ser1201=) n.3615T>C c.3369T>C (p.Ser1123=) c.3618T>C (p.Ser1206=) | |
| Y | g.12790448T>G | CA414983626 | USP9Y | c.3603T>G (p.Ser1201Arg) n.3615T>G c.3369T>G (p.Ser1123Arg) c.3618T>G (p.Ser1206Arg) | |
| Y | g.12790449G>A | CA414983628 | USP9Y | c.3604G>A (p.Ala1202Thr) n.3616G>A c.3370G>A (p.Ala1124Thr) c.3619G>A (p.Ala1207Thr) | |
| Y | g.12790449G>C | CA414983632 | USP9Y | c.3604G>C (p.Ala1202Pro) n.3616G>C c.3370G>C (p.Ala1124Pro) c.3619G>C (p.Ala1207Pro) | |
| Y | g.12790449G>T | CA414983637 | USP9Y | c.3604G>T (p.Ala1202Ser) n.3616G>T c.3370G>T (p.Ala1124Ser) c.3619G>T (p.Ala1207Ser) | |
| Y | g.12790450C>A | CA414983638 | USP9Y | c.3605C>A (p.Ala1202Asp) n.3617C>A c.3371C>A (p.Ala1124Asp) c.3620C>A (p.Ala1207Asp) | |
| Y | g.12790450C>G | CA414983641 | USP9Y | c.3605C>G (p.Ala1202Gly) n.3617C>G c.3371C>G (p.Ala1124Gly) c.3620C>G (p.Ala1207Gly) | |
| Y | g.12790450C>T | CA414983651 | USP9Y | c.3605C>T (p.Ala1202Val) n.3617C>T c.3371C>T (p.Ala1124Val) c.3620C>T (p.Ala1207Val) | |
| Y | g.12790451C>A | CA519859631 | USP9Y | c.3606C>A (p.Ala1202=) n.3618C>A c.3372C>A (p.Ala1124=) c.3621C>A (p.Ala1207=) | |
| Y | g.12790451C>G | CA519859635 | USP9Y | c.3606C>G (p.Ala1202=) n.3618C>G c.3372C>G (p.Ala1124=) c.3621C>G (p.Ala1207=) | |
| Y | g.12790451C>T | CA519859639 | USP9Y | c.3606C>T (p.Ala1202=) n.3618C>T c.3372C>T (p.Ala1124=) c.3621C>T (p.Ala1207=) | |
| Y | g.12790452C>A | CA414983672 | USP9Y | c.3607C>A (p.Leu1203Ile) n.3619C>A c.3373C>A (p.Leu1125Ile) c.3622C>A (p.Leu1208Ile) | |
| Y | g.12790452C>G | CA414983689 | USP9Y | c.3607C>G (p.Leu1203Val) n.3619C>G c.3373C>G (p.Leu1125Val) c.3622C>G (p.Leu1208Val) | |
| Y | g.12790452C>T | CA414983668 | USP9Y | c.3607C>T (p.Leu1203Phe) n.3619C>T c.3373C>T (p.Leu1125Phe) c.3622C>T (p.Leu1208Phe) | |
| Y | g.12790453T>A | CA414983692 | USP9Y | c.3608T>A (p.Leu1203His) n.3620T>A c.3374T>A (p.Leu1125His) c.3623T>A (p.Leu1208His) | |
| Y | g.12790453T>C | CA414983696 | USP9Y | c.3608T>C (p.Leu1203Pro) n.3620T>C c.3374T>C (p.Leu1125Pro) c.3623T>C (p.Leu1208Pro) | |
| Y | g.12790453T>G | CA414983697 | USP9Y | c.3608T>G (p.Leu1203Arg) n.3620T>G c.3374T>G (p.Leu1125Arg) c.3623T>G (p.Leu1208Arg) | |
| Y | g.12790454T>A | CA519859692 | USP9Y | c.3609T>A (p.Leu1203=) n.3621T>A c.3375T>A (p.Leu1125=) c.3624T>A (p.Leu1208=) | |
| Y | g.12790454T>C | CA519859695 | USP9Y | c.3609T>C (p.Leu1203=) n.3621T>C c.3375T>C (p.Leu1125=) c.3624T>C (p.Leu1208=) | |
| Y | g.12790454T>G | CA519859700 | USP9Y | c.3609T>G (p.Leu1203=) n.3621T>G c.3375T>G (p.Leu1125=) c.3624T>G (p.Leu1208=) | |
| Y | g.12790455C>A | CA414983700 | USP9Y | c.3610C>A (p.Gln1204Lys) n.3622C>A c.3376C>A (p.Gln1126Lys) c.3625C>A (p.Gln1209Lys) | |
| Y | g.12790455C>G | CA414983702 | USP9Y | c.3610C>G (p.Gln1204Glu) n.3622C>G c.3376C>G (p.Gln1126Glu) c.3625C>G (p.Gln1209Glu) | |
| Y | g.12790455C>T | CA414983703 | USP9Y | c.3610C>T (p.Gln1204Ter) n.3622C>T c.3376C>T (p.Gln1126Ter) c.3625C>T (p.Gln1209Ter) | |
| Y | g.12790456A>C | CA414983705 | USP9Y | c.3611A>C (p.Gln1204Pro) n.3623A>C c.3377A>C (p.Gln1126Pro) c.3626A>C (p.Gln1209Pro) | |
| Y | g.12790456A>G | CA414983707 | USP9Y | c.3611A>G (p.Gln1204Arg) n.3623A>G c.3377A>G (p.Gln1126Arg) c.3626A>G (p.Gln1209Arg) | |
| Y | g.12790456A>T | CA414983711 | USP9Y | c.3611A>T (p.Gln1204Leu) n.3623A>T c.3377A>T (p.Gln1126Leu) c.3626A>T (p.Gln1209Leu) | |
| Y | g.12790457G>A | CA519859716 | USP9Y | c.3612G>A (p.Gln1204=) n.3624G>A c.3378G>A (p.Gln1126=) c.3627G>A (p.Gln1209=) | |
| Y | g.12790457G>C | CA414983713 | USP9Y | c.3612G>C (p.Gln1204His) n.3624G>C c.3378G>C (p.Gln1126His) c.3627G>C (p.Gln1209His) | |
| Y | g.12790457G>T | CA414983715 | USP9Y | c.3612G>T (p.Gln1204His) n.3624G>T c.3378G>T (p.Gln1126His) c.3627G>T (p.Gln1209His) | |
| Y | g.12790458A>C | CA414983720 | USP9Y | c.3613A>C (p.Ser1205Arg) n.3625A>C c.3379A>C (p.Ser1127Arg) c.3628A>C (p.Ser1210Arg) | |
| Y | g.12790458A>G | CA414983718 | USP9Y | c.3613A>G (p.Ser1205Gly) n.3625A>G c.3379A>G (p.Ser1127Gly) c.3628A>G (p.Ser1210Gly) | |
| Y | g.12790458A>T | CA414983717 | USP9Y | c.3613A>T (p.Ser1205Cys) n.3625A>T c.3379A>T (p.Ser1127Cys) c.3628A>T (p.Ser1210Cys) | |
| Y | g.12790459G>A | CA414983722 | USP9Y | c.3614G>A (p.Ser1205Asn) n.3626G>A c.3380G>A (p.Ser1127Asn) c.3629G>A (p.Ser1210Asn) | |
| Y | g.12790459G>C | CA414983725 | USP9Y | c.3614G>C (p.Ser1205Thr) n.3626G>C c.3380G>C (p.Ser1127Thr) c.3629G>C (p.Ser1210Thr) | |
| Y | g.12790459G>T | CA414983727 | USP9Y | c.3614G>T (p.Ser1205Ile) n.3626G>T c.3380G>T (p.Ser1127Ile) c.3629G>T (p.Ser1210Ile) | |
| Y | g.12790460C>A | CA414983730 | USP9Y | c.3615C>A (p.Ser1205Arg) n.3627C>A c.3381C>A (p.Ser1127Arg) c.3630C>A (p.Ser1210Arg) | |
| Y | g.12790460C>G | CA414983732 | USP9Y | c.3615C>G (p.Ser1205Arg) n.3627C>G c.3381C>G (p.Ser1127Arg) c.3630C>G (p.Ser1210Arg) | |
| Y | g.12790460C>T | CA519859748 | USP9Y | c.3615C>T (p.Ser1205=) n.3627C>T c.3381C>T (p.Ser1127=) c.3630C>T (p.Ser1210=) | |
| Y | g.12790461A>C | CA414983734 | USP9Y | c.3616A>C (p.Ile1206Leu) n.3628A>C c.3382A>C (p.Ile1128Leu) c.3631A>C (p.Ile1211Leu) | |
| Y | g.12790461A>G | CA414983735 | USP9Y | c.3616A>G (p.Ile1206Val) n.3628A>G c.3382A>G (p.Ile1128Val) c.3631A>G (p.Ile1211Val) | |
| Y | g.12790461A>T | CA414983736 | USP9Y | c.3616A>T (p.Ile1206Phe) n.3628A>T c.3382A>T (p.Ile1128Phe) c.3631A>T (p.Ile1211Phe) | |
| Y | g.12790462T>A | CA414983737 | USP9Y | c.3617T>A (p.Ile1206Asn) n.3629T>A c.3383T>A (p.Ile1128Asn) c.3632T>A (p.Ile1211Asn) | |
| Y | g.12790462T>C | CA414983738 | USP9Y | c.3617T>C (p.Ile1206Thr) n.3629T>C c.3383T>C (p.Ile1128Thr) c.3632T>C (p.Ile1211Thr) | |
| Y | g.12790462T>G | CA414983739 | USP9Y | c.3617T>G (p.Ile1206Ser) n.3629T>G c.3383T>G (p.Ile1128Ser) c.3632T>G (p.Ile1211Ser) | |
| Y | g.12790463T>A | CA519859783 | USP9Y | c.3618T>A (p.Ile1206=) n.3630T>A c.3384T>A (p.Ile1128=) c.3633T>A (p.Ile1211=) | |
| Y | g.12790463T>C | CA519859784 | USP9Y | c.3618T>C (p.Ile1206=) n.3630T>C c.3384T>C (p.Ile1128=) c.3633T>C (p.Ile1211=) | |
| Y | g.12790463T>G | CA414983741 | USP9Y | c.3618T>G (p.Ile1206Met) n.3630T>G c.3384T>G (p.Ile1128Met) c.3633T>G (p.Ile1211Met) | |
| Y | g.12790464C>A | CA414983748 | USP9Y | c.3619C>A (p.Pro1207Thr) n.3631C>A c.3385C>A (p.Pro1129Thr) c.3634C>A (p.Pro1212Thr) | |
| Y | g.12790464C>G | CA414983745 | USP9Y | c.3619C>G (p.Pro1207Ala) n.3631C>G c.3385C>G (p.Pro1129Ala) c.3634C>G (p.Pro1212Ala) | |
| Y | g.12790464C>T | CA414983743 | USP9Y | c.3619C>T (p.Pro1207Ser) n.3631C>T c.3385C>T (p.Pro1129Ser) c.3634C>T (p.Pro1212Ser) | |
| Y | g.12790465C>A | CA414983752 | USP9Y | c.3620C>A (p.Pro1207His) n.3632C>A c.3386C>A (p.Pro1129His) c.3635C>A (p.Pro1212His) | |
| Y | g.12790465C>G | CA414983757 | USP9Y | c.3620C>G (p.Pro1207Arg) n.3632C>G c.3386C>G (p.Pro1129Arg) c.3635C>G (p.Pro1212Arg) | |
| Y | g.12790465C>T | CA414983754 | USP9Y | c.3620C>T (p.Pro1207Leu) n.3632C>T c.3386C>T (p.Pro1129Leu) c.3635C>T (p.Pro1212Leu) | |
| Y | g.12790466T>A | CA519859796 | USP9Y | c.3621T>A (p.Pro1207=) n.3633T>A c.3387T>A (p.Pro1129=) c.3636T>A (p.Pro1212=) | |
| Y | g.12790466T>C | CA519859798 | USP9Y | c.3621T>C (p.Pro1207=) n.3633T>C c.3387T>C (p.Pro1129=) c.3636T>C (p.Pro1212=) | |
| Y | g.12790466T>G | CA519859802 | USP9Y | c.3621T>G (p.Pro1207=) n.3633T>G c.3387T>G (p.Pro1129=) c.3636T>G (p.Pro1212=) | |
| Y | g.12790467A>C | CA414983760 | USP9Y | c.3622A>C (p.Asn1208His) n.3634A>C c.3388A>C (p.Asn1130His) c.3637A>C (p.Asn1213His) | |
| Y | g.12790467A>G | CA414983763 | USP9Y | c.3622A>G (p.Asn1208Asp) n.3634A>G c.3388A>G (p.Asn1130Asp) c.3637A>G (p.Asn1213Asp) | |
| Y | g.12790467A>T | CA414983764 | USP9Y | c.3622A>T (p.Asn1208Tyr) n.3634A>T c.3388A>T (p.Asn1130Tyr) c.3637A>T (p.Asn1213Tyr) | |
| Y | g.12790468A>C | CA414983767 | USP9Y | c.3623A>C (p.Asn1208Thr) n.3635A>C c.3389A>C (p.Asn1130Thr) c.3638A>C (p.Asn1213Thr) | |
| Y | g.12790468A>G | CA414983770 | USP9Y | c.3623A>G (p.Asn1208Ser) n.3635A>G c.3389A>G (p.Asn1130Ser) c.3638A>G (p.Asn1213Ser) | |
| Y | g.12790468A>T | CA414983773 | USP9Y | c.3623A>T (p.Asn1208Ile) n.3635A>T c.3389A>T (p.Asn1130Ile) c.3638A>T (p.Asn1213Ile) | |
| Y | g.12790469T>A | CA414983775 | USP9Y | c.3624T>A (p.Asn1208Lys) n.3636T>A c.3390T>A (p.Asn1130Lys) c.3639T>A (p.Asn1213Lys) | |
| Y | g.12790469T>C | CA519859825 | USP9Y | c.3624T>C (p.Asn1208=) n.3636T>C c.3390T>C (p.Asn1130=) c.3639T>C (p.Asn1213=) | |
| Y | g.12790469T>G | CA414983778 | USP9Y | c.3624T>G (p.Asn1208Lys) n.3636T>G c.3390T>G (p.Asn1130Lys) c.3639T>G (p.Asn1213Lys) | |
| Y | g.12790470C>A | CA414983782 | USP9Y | c.3625C>A (p.Pro1209Thr) n.3637C>A c.3391C>A (p.Pro1131Thr) c.3640C>A (p.Pro1214Thr) | |
| Y | g.12790470C= | CA2470558125 | USP9Y | c.3625C= (p.Pro1209=) n.3637C= c.3391C= (p.Pro1131=) c.3640C= (p.Pro1214=) | |
| Y | g.12790470C>G | CA10573263 | USP9Y | c.3625C>G (p.Pro1209Ala) n.3637C>G c.3391C>G (p.Pro1131Ala) c.3640C>G (p.Pro1214Ala) | dbSNP ExAC |
| Y | g.12790470C>T | CA414983787 | USP9Y | c.3625C>T (p.Pro1209Ser) n.3637C>T c.3391C>T (p.Pro1131Ser) c.3640C>T (p.Pro1214Ser) | COSMIC |
| Y | g.12790471C>A | CA414983794 | USP9Y | c.3626C>A (p.Pro1209His) n.3638C>A c.3392C>A (p.Pro1131His) c.3641C>A (p.Pro1214His) | |
| Y | g.12790471C>G | CA414983793 | USP9Y | c.3626C>G (p.Pro1209Arg) n.3638C>G c.3392C>G (p.Pro1131Arg) c.3641C>G (p.Pro1214Arg) | |
| Y | g.12790471C>T | CA414983790 | USP9Y | c.3626C>T (p.Pro1209Leu) n.3638C>T c.3392C>T (p.Pro1131Leu) c.3641C>T (p.Pro1214Leu) | COSMIC |
| Y | g.12790472C>A | CA519859854 | USP9Y | c.3627C>A (p.Pro1209=) n.3639C>A c.3393C>A (p.Pro1131=) c.3642C>A (p.Pro1214=) | |
| Y | g.12790472C>G | CA519859857 | USP9Y | c.3627C>G (p.Pro1209=) n.3639C>G c.3393C>G (p.Pro1131=) c.3642C>G (p.Pro1214=) | |
| Y | g.12790472C>T | CA519859862 | USP9Y | c.3627C>T (p.Pro1209=) n.3639C>T c.3393C>T (p.Pro1131=) c.3642C>T (p.Pro1214=) | |
| Y | g.12790473T>A | CA414983798 | USP9Y | c.3628T>A (p.Ser1210Thr) n.3640T>A c.3394T>A (p.Ser1132Thr) c.3643T>A (p.Ser1215Thr) | |
| Y | g.12790473T>C | CA414983801 | USP9Y | c.3628T>C (p.Ser1210Pro) n.3640T>C c.3394T>C (p.Ser1132Pro) c.3643T>C (p.Ser1215Pro) | |
| Y | g.12790473T>G | CA414983803 | USP9Y | c.3628T>G (p.Ser1210Ala) n.3640T>G c.3394T>G (p.Ser1132Ala) c.3643T>G (p.Ser1215Ala) | |
| Y | g.12790474C>A | CA414983806 | USP9Y | c.3629C>A (p.Ser1210Ter) n.3641C>A c.3395C>A (p.Ser1132Ter) c.3644C>A (p.Ser1215Ter) | |
| Y | g.12790474C>G | CA414983808 | USP9Y | c.3629C>G (p.Ser1210Ter) n.3641C>G c.3395C>G (p.Ser1132Ter) c.3644C>G (p.Ser1215Ter) | |
| Y | g.12790474C>T | CA414983811 | USP9Y | c.3629C>T (p.Ser1210Leu) n.3641C>T c.3395C>T (p.Ser1132Leu) c.3644C>T (p.Ser1215Leu) | |
| Y | g.12790475A>C | CA519859894 | USP9Y | c.3630A>C (p.Ser1210=) n.3642A>C c.3396A>C (p.Ser1132=) c.3645A>C (p.Ser1215=) | |
| Y | g.12790475A>G | CA519859890 | USP9Y | c.3630A>G (p.Ser1210=) n.3642A>G c.3396A>G (p.Ser1132=) c.3645A>G (p.Ser1215=) | |
| Y | g.12790475A>T | CA519859876 | USP9Y | c.3630A>T (p.Ser1210=) n.3642A>T c.3396A>T (p.Ser1132=) c.3645A>T (p.Ser1215=) | gnomAD v3 gnomAD v4 |
| Y | g.12790476T>A | CA414983817 | USP9Y | c.3631T>A (p.Ser1211Thr) n.3643T>A c.3397T>A (p.Ser1133Thr) c.3646T>A (p.Ser1216Thr) | |
| Y | g.12790476T>C | CA414983819 | USP9Y | c.3631T>C (p.Ser1211Pro) n.3643T>C c.3397T>C (p.Ser1133Pro) c.3646T>C (p.Ser1216Pro) | |
| Y | g.12790476T>G | CA414983822 | USP9Y | c.3631T>G (p.Ser1211Ala) n.3643T>G c.3397T>G (p.Ser1133Ala) c.3646T>G (p.Ser1216Ala) | |
| Y | g.12790477C>A | CA414983826 | USP9Y | c.3632C>A (p.Ser1211Tyr) n.3644C>A c.3398C>A (p.Ser1133Tyr) c.3647C>A (p.Ser1216Tyr) | |
| Y | g.12790477C>G | CA414983829 | USP9Y | c.3632C>G (p.Ser1211Cys) n.3644C>G c.3398C>G (p.Ser1133Cys) c.3647C>G (p.Ser1216Cys) | |
| Y | g.12790477C>T | CA414983832 | USP9Y | c.3632C>T (p.Ser1211Phe) n.3644C>T c.3398C>T (p.Ser1133Phe) c.3647C>T (p.Ser1216Phe) | |
| Y | g.12790478C>A | CA519859903 | USP9Y | c.3633C>A (p.Ser1211=) n.3645C>A c.3399C>A (p.Ser1133=) c.3648C>A (p.Ser1216=) | |
| Y | g.12790478C= | CA2470558126 | USP9Y | c.3633C= (p.Ser1211=) n.3645C= c.3399C= (p.Ser1133=) c.3648C= (p.Ser1216=) | |
| Y | g.12790478C>G | CA519859909 | USP9Y | c.3633C>G (p.Ser1211=) n.3645C>G c.3399C>G (p.Ser1133=) c.3648C>G (p.Ser1216=) | |
| Y | g.12790478C>T | CA10573264 | USP9Y | c.3633C>T (p.Ser1211=) n.3645C>T c.3399C>T (p.Ser1133=) c.3648C>T (p.Ser1216=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| Y | g.12790479G>A | CA337720146 | USP9Y | c.3634G>A (p.Glu1212Lys) n.3646G>A c.3400G>A (p.Glu1134Lys) c.3649G>A (p.Glu1217Lys) | dbSNP |
| Y | g.12790479G>C | CA414983839 | USP9Y | c.3634G>C (p.Glu1212Gln) n.3646G>C c.3400G>C (p.Glu1134Gln) c.3649G>C (p.Glu1217Gln) | |
| Y | g.12790479G= | CA2470558127 | USP9Y | c.3634G= (p.Glu1212=) n.3646G= c.3400G= (p.Glu1134=) c.3649G= (p.Glu1217=) | |
| Y | g.12790479G>T | CA414983846 | USP9Y | c.3634G>T (p.Glu1212Ter) n.3646G>T c.3400G>T (p.Glu1134Ter) c.3649G>T (p.Glu1217Ter) | |
| Y | g.12790480A>C | CA414983849 | USP9Y | c.3635A>C (p.Glu1212Ala) n.3647A>C c.3401A>C (p.Glu1134Ala) c.3650A>C (p.Glu1217Ala) | |
| Y | g.12790480A>G | CA414983854 | USP9Y | c.3635A>G (p.Glu1212Gly) n.3647A>G c.3401A>G (p.Glu1134Gly) c.3650A>G (p.Glu1217Gly) | |
| Y | g.12790480A>T | CA414983860 | USP9Y | c.3635A>T (p.Glu1212Val) n.3647A>T c.3401A>T (p.Glu1134Val) c.3650A>T (p.Glu1217Val) | |
| 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) |