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.12726676T>A | CA414981744 | USP9Y | c.540T>A (p.Asn180Lys) n.552T>A c.306T>A (p.Asn102Lys) | |
| Y | g.12726676T>C | CA519862641 | USP9Y | c.540T>C (p.Asn180=) n.552T>C c.306T>C (p.Asn102=) | |
| Y | g.12726676T>G | CA414981745 | USP9Y | c.540T>G (p.Asn180Lys) n.552T>G c.306T>G (p.Asn102Lys) | |
| Y | g.12726676_12726677insA | CA2766240715 | USP9Y | c.540_541insA (p.Pro181ThrfsTer15) n.552_553insA c.306_307insA (p.Pro103ThrfsTer15) | |
| Y | g.12726677C>A | CA414981746 | USP9Y | c.541C>A (p.Pro181Thr) n.553C>A c.307C>A (p.Pro103Thr) | |
| Y | g.12726677C>G | CA414981747 | USP9Y | c.541C>G (p.Pro181Ala) n.553C>G c.307C>G (p.Pro103Ala) | |
| Y | g.12726677C>T | CA414981748 | USP9Y | c.541C>T (p.Pro181Ser) n.553C>T c.307C>T (p.Pro103Ser) | |
| Y | g.12726678C>A | CA414981749 | USP9Y | c.542C>A (p.Pro181His) n.554C>A c.308C>A (p.Pro103His) | |
| Y | g.12726678C>G | CA414981750 | USP9Y | c.542C>G (p.Pro181Arg) n.554C>G c.308C>G (p.Pro103Arg) | |
| Y | g.12726678C>T | CA414981751 | USP9Y | c.542C>T (p.Pro181Leu) n.554C>T c.308C>T (p.Pro103Leu) | |
| Y | g.12726679T>A | CA519862651 | USP9Y | c.543T>A (p.Pro181=) n.555T>A c.309T>A (p.Pro103=) | |
| Y | g.12726679T>C | CA519862655 | USP9Y | c.543T>C (p.Pro181=) n.555T>C c.309T>C (p.Pro103=) | |
| Y | g.12726679T>G | CA519862657 | USP9Y | c.543T>G (p.Pro181=) n.555T>G c.309T>G (p.Pro103=) | |
| Y | g.12726680C>A | CA414981752 | USP9Y | c.544C>A (p.His182Asn) n.556C>A c.310C>A (p.His104Asn) | |
| Y | g.12726680C>G | CA414981753 | USP9Y | c.544C>G (p.His182Asp) n.556C>G c.310C>G (p.His104Asp) | |
| Y | g.12726680C>T | CA414981754 | USP9Y | c.544C>T (p.His182Tyr) n.556C>T c.310C>T (p.His104Tyr) | |
| Y | g.12726681A>C | CA414981757 | USP9Y | c.545A>C (p.His182Pro) n.557A>C c.311A>C (p.His104Pro) | |
| Y | g.12726681A>G | CA414981756 | USP9Y | c.545A>G (p.His182Arg) n.557A>G c.311A>G (p.His104Arg) | |
| Y | g.12726681A>T | CA414981755 | USP9Y | c.545A>T (p.His182Leu) n.557A>T c.311A>T (p.His104Leu) | |
| Y | g.12726682C>A | CA414981758 | USP9Y | c.546C>A (p.His182Gln) n.558C>A c.312C>A (p.His104Gln) | |
| Y | g.12726682C>G | CA414981759 | USP9Y | c.546C>G (p.His182Gln) n.558C>G c.312C>G (p.His104Gln) | |
| Y | g.12726682C>T | CA519862677 | USP9Y | c.546C>T (p.His182=) n.558C>T c.312C>T (p.His104=) | |
| Y | g.12726683T>A | CA414981760 | USP9Y | c.547T>A (p.Cys183Ser) n.559T>A c.313T>A (p.Cys105Ser) | |
| Y | g.12726683T>C | CA414981761 | USP9Y | c.547T>C (p.Cys183Arg) n.559T>C c.313T>C (p.Cys105Arg) | |
| Y | g.12726683T>G | CA414981762 | USP9Y | c.547T>G (p.Cys183Gly) n.559T>G c.313T>G (p.Cys105Gly) | |
| Y | g.12726684G>A | CA414981763 | USP9Y | c.548G>A (p.Cys183Tyr) n.560G>A c.314G>A (p.Cys105Tyr) | |
| Y | g.12726684G>C | CA414981764 | USP9Y | c.548G>C (p.Cys183Ser) n.560G>C c.314G>C (p.Cys105Ser) | |
| Y | g.12726684G>T | CA414981765 | USP9Y | c.548G>T (p.Cys183Phe) n.560G>T c.314G>T (p.Cys105Phe) | |
| Y | g.12726685C>A | CA414981766 | USP9Y | c.549C>A (p.Cys183Ter) n.561C>A c.315C>A (p.Cys105Ter) | |
| Y | g.12726685C>G | CA414981767 | USP9Y | c.549C>G (p.Cys183Trp) n.561C>G c.315C>G (p.Cys105Trp) | |
| Y | g.12726685C>T | CA519862686 | USP9Y | c.549C>T (p.Cys183=) n.561C>T c.315C>T (p.Cys105=) | |
| Y | g.12726686A>C | CA414981768 | USP9Y | c.550A>C (p.Lys184Gln) n.562A>C c.316A>C (p.Lys106Gln) | |
| Y | g.12726686A>G | CA414981769 | USP9Y | c.550A>G (p.Lys184Glu) n.562A>G c.316A>G (p.Lys106Glu) | |
| Y | g.12726686A>T | CA414981770 | USP9Y | c.550A>T (p.Lys184Ter) n.562A>T c.316A>T (p.Lys106Ter) | |
| Y | g.12726687A= | CA2470554860 | USP9Y | c.551A= (p.Lys184=) n.563A= c.317A= (p.Lys106=) | |
| Y | g.12726687A>C | CA414981772 | USP9Y | c.551A>C (p.Lys184Thr) n.563A>C c.317A>C (p.Lys106Thr) | |
| Y | g.12726687A>G | CA414981773 | USP9Y | c.551A>G (p.Lys184Arg) n.563A>G c.317A>G (p.Lys106Arg) | dbSNP gnomAD v2 |
| Y | g.12726687A>T | CA414981771 | USP9Y | c.551A>T (p.Lys184Met) n.563A>T c.317A>T (p.Lys106Met) | |
| Y | g.12726688G>A | CA519862708 | USP9Y | c.552G>A (p.Lys184=) n.564G>A c.318G>A (p.Lys106=) | |
| Y | g.12726688G>C | CA414981775 | USP9Y | c.552G>C (p.Lys184Asn) n.564G>C c.318G>C (p.Lys106Asn) | |
| Y | g.12726688G>T | CA414981774 | USP9Y | c.552G>T (p.Lys184Asn) n.564G>T c.318G>T (p.Lys106Asn) | |
| Y | g.12726689T>A | CA414981778 | USP9Y | c.553T>A (p.Phe185Ile) n.565T>A c.319T>A (p.Phe107Ile) | |
| Y | g.12726689T>C | CA414981776 | USP9Y | c.553T>C (p.Phe185Leu) n.565T>C c.319T>C (p.Phe107Leu) | |
| Y | g.12726689T>G | CA414981777 | USP9Y | c.553T>G (p.Phe185Val) n.565T>G c.319T>G (p.Phe107Val) | |
| Y | g.12726690T>A | CA414981779 | USP9Y | c.554T>A (p.Phe185Tyr) n.566T>A c.320T>A (p.Phe107Tyr) | |
| Y | g.12726690T>C | CA414981780 | USP9Y | c.554T>C (p.Phe185Ser) n.566T>C c.320T>C (p.Phe107Ser) | |
| Y | g.12726690T>G | CA414981781 | USP9Y | c.554T>G (p.Phe185Cys) n.566T>G c.320T>G (p.Phe107Cys) | |
| Y | g.12726691T>A | CA414981782 | USP9Y | c.555T>A (p.Phe185Leu) n.567T>A c.321T>A (p.Phe107Leu) | |
| Y | g.12726691T>C | CA519862731 | USP9Y | c.555T>C (p.Phe185=) n.567T>C c.321T>C (p.Phe107=) | |
| Y | g.12726691T>G | CA414981783 | USP9Y | c.555T>G (p.Phe185Leu) n.567T>G c.321T>G (p.Phe107Leu) | |
| Y | g.12726692C>A | CA414981784 | USP9Y | c.556C>A (p.His186Asn) n.568C>A c.322C>A (p.His108Asn) | |
| Y | g.12726692C>G | CA414981785 | USP9Y | c.556C>G (p.His186Asp) n.568C>G c.322C>G (p.His108Asp) | |
| Y | g.12726692C>T | CA414981786 | USP9Y | c.556C>T (p.His186Tyr) n.568C>T c.322C>T (p.His108Tyr) | |
| Y | g.12726693A>C | CA414981787 | USP9Y | c.557A>C (p.His186Pro) n.569A>C c.323A>C (p.His108Pro) | |
| Y | g.12726693A>G | CA414981788 | USP9Y | c.557A>G (p.His186Arg) n.569A>G c.323A>G (p.His108Arg) | |
| Y | g.12726693A>T | CA414981789 | USP9Y | c.557A>T (p.His186Leu) n.569A>T c.323A>T (p.His108Leu) | |
| Y | g.12726694T>A | CA414981790 | USP9Y | c.558T>A (p.His186Gln) n.570T>A c.324T>A (p.His108Gln) | |
| Y | g.12726694T>C | CA519862748 | USP9Y | c.558T>C (p.His186=) n.570T>C c.324T>C (p.His108=) | |
| Y | g.12726694T>G | CA414981791 | USP9Y | c.558T>G (p.His186Gln) n.570T>G c.324T>G (p.His108Gln) | |
| Y | g.12726695A>C | CA414981792 | USP9Y | c.559A>C (p.Ile187Leu) n.571A>C c.325A>C (p.Ile109Leu) | |
| Y | g.12726695A>G | CA414981793 | USP9Y | c.559A>G (p.Ile187Val) n.571A>G c.325A>G (p.Ile109Val) | |
| Y | g.12726695A>T | CA414981794 | USP9Y | c.559A>T (p.Ile187Phe) n.571A>T c.325A>T (p.Ile109Phe) | |
| Y | g.12726696T>A | CA414981795 | USP9Y | c.560T>A (p.Ile187Asn) n.572T>A c.326T>A (p.Ile109Asn) | |
| Y | g.12726696T>C | CA414981796 | USP9Y | c.560T>C (p.Ile187Thr) n.572T>C c.326T>C (p.Ile109Thr) | |
| Y | g.12726696T>G | CA414981797 | USP9Y | c.560T>G (p.Ile187Ser) n.572T>G c.326T>G (p.Ile109Ser) | |
| Y | g.12726697C>A | CA519862762 | USP9Y | c.561C>A (p.Ile187=) n.573C>A c.327C>A (p.Ile109=) | |
| Y | g.12726697C>G | CA414981798 | USP9Y | c.561C>G (p.Ile187Met) n.573C>G c.327C>G (p.Ile109Met) | |
| Y | g.12726697C>T | CA519862767 | USP9Y | c.561C>T (p.Ile187=) n.573C>T c.327C>T (p.Ile109=) | |
| Y | g.12726698T>A | CA414981799 | USP9Y | c.562T>A (p.Tyr188Asn) n.574T>A c.328T>A (p.Tyr110Asn) | |
| Y | g.12726698T>C | CA414981800 | USP9Y | c.562T>C (p.Tyr188His) n.574T>C c.328T>C (p.Tyr110His) | |
| Y | g.12726698T>G | CA414981801 | USP9Y | c.562T>G (p.Tyr188Asp) n.574T>G c.328T>G (p.Tyr110Asp) | |
| Y | g.12726699A>C | CA414981804 | USP9Y | c.563A>C (p.Tyr188Ser) n.575A>C c.329A>C (p.Tyr110Ser) | |
| Y | g.12726699A>G | CA414981803 | USP9Y | c.563A>G (p.Tyr188Cys) n.575A>G c.329A>G (p.Tyr110Cys) | |
| Y | g.12726699A>T | CA414981802 | USP9Y | c.563A>T (p.Tyr188Phe) n.575A>T c.329A>T (p.Tyr110Phe) | |
| Y | g.12726700C>A | CA414981805 | USP9Y | c.564C>A (p.Tyr188Ter) n.576C>A c.330C>A (p.Tyr110Ter) | |
| Y | g.12726700C>G | CA414981806 | USP9Y | c.564C>G (p.Tyr188Ter) n.576C>G c.330C>G (p.Tyr110Ter) | |
| Y | g.12726700C>T | CA519862786 | USP9Y | c.564C>T (p.Tyr188=) n.576C>T c.330C>T (p.Tyr110=) | |
| Y | g.12726701A>C | CA414981807 | USP9Y | c.565A>C (p.Asn189His) n.577A>C c.331A>C (p.Asn111His) | |
| Y | g.12726701A>G | CA414981808 | USP9Y | c.565A>G (p.Asn189Asp) n.577A>G c.331A>G (p.Asn111Asp) | |
| Y | g.12726701A>T | CA414981809 | USP9Y | c.565A>T (p.Asn189Tyr) n.577A>T c.331A>T (p.Asn111Tyr) | |
| Y | g.12726702A= | CA2470554861 | USP9Y | c.566A= (p.Asn189=) n.578A= c.332A= (p.Asn111=) | |
| Y | g.12726702A>C | CA414981810 | USP9Y | c.566A>C (p.Asn189Thr) n.578A>C c.332A>C (p.Asn111Thr) | |
| Y | g.12726702A>G | CA414981811 | USP9Y | c.566A>G (p.Asn189Ser) n.578A>G c.332A>G (p.Asn111Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12726702A>T | CA414981812 | USP9Y | c.566A>T (p.Asn189Ile) n.578A>T c.332A>T (p.Asn111Ile) | |
| Y | g.12726703T>A | CA414981813 | USP9Y | c.567T>A (p.Asn189Lys) n.579T>A c.333T>A (p.Asn111Lys) | |
| Y | g.12726703T>C | CA519862814 | USP9Y | c.567T>C (p.Asn189=) n.579T>C c.333T>C (p.Asn111=) | |
| Y | g.12726703T>G | CA414981814 | USP9Y | c.567T>G (p.Asn189Lys) n.579T>G c.333T>G (p.Asn111Lys) | |
| Y | g.12726704G>A | CA414981815 | USP9Y | c.568G>A (p.Gly190Ser) n.580G>A c.334G>A (p.Gly112Ser) | |
| Y | g.12726704G>C | CA414981816 | USP9Y | c.568G>C (p.Gly190Arg) n.580G>C c.334G>C (p.Gly112Arg) | |
| Y | g.12726704G>T | CA414981817 | USP9Y | c.568G>T (p.Gly190Cys) n.580G>T c.334G>T (p.Gly112Cys) | |
| Y | g.12726705G>A | CA414981818 | USP9Y | c.569G>A (p.Gly190Asp) n.581G>A c.335G>A (p.Gly112Asp) | |
| Y | g.12726705G>C | CA414981820 | USP9Y | c.569G>C (p.Gly190Ala) n.581G>C c.335G>C (p.Gly112Ala) | |
| Y | g.12726705G>T | CA414981819 | USP9Y | c.569G>T (p.Gly190Val) n.581G>T c.335G>T (p.Gly112Val) | |
| Y | g.12726706T>A | CA519862828 | USP9Y | c.570T>A (p.Gly190=) n.582T>A c.336T>A (p.Gly112=) | |
| Y | g.12726706T>C | CA519862835 | USP9Y | c.570T>C (p.Gly190=) n.582T>C c.336T>C (p.Gly112=) | |
| Y | g.12726706T>G | CA519862832 | USP9Y | c.570T>G (p.Gly190=) n.582T>G c.336T>G (p.Gly112=) | |
| Y | g.12726707A>C | CA414981821 | USP9Y | c.571A>C (p.Thr191Pro) n.583A>C c.337A>C (p.Thr113Pro) | |
| Y | g.12726707A>G | CA414981822 | USP9Y | c.571A>G (p.Thr191Ala) n.583A>G c.337A>G (p.Thr113Ala) | |
| Y | g.12726707A>T | CA414981823 | USP9Y | c.571A>T (p.Thr191Ser) n.583A>T c.337A>T (p.Thr113Ser) | |
| Y | g.12726708C>A | CA414981824 | USP9Y | c.572C>A (p.Thr191Lys) n.584C>A c.338C>A (p.Thr113Lys) | |
| Y | g.12726708C>G | CA414981825 | USP9Y | c.572C>G (p.Thr191Arg) n.584C>G c.338C>G (p.Thr113Arg) | |
| Y | g.12726708C>T | CA414981826 | USP9Y | c.572C>T (p.Thr191Ile) n.584C>T c.338C>T (p.Thr113Ile) | |
| Y | g.12726709A>C | CA519862851 | USP9Y | c.573A>C (p.Thr191=) n.585A>C c.339A>C (p.Thr113=) | |
| Y | g.12726709A>G | CA519862854 | USP9Y | c.573A>G (p.Thr191=) n.585A>G c.339A>G (p.Thr113=) | |
| Y | g.12726709A>T | CA519862858 | USP9Y | c.573A>T (p.Thr191=) n.585A>T c.339A>T (p.Thr113=) | |
| Y | g.12726710C>A | CA414981827 | USP9Y | c.574C>A (p.Arg192Ser) n.586C>A c.340C>A (p.Arg114Ser) | |
| Y | g.12726710C>G | CA414981828 | USP9Y | c.574C>G (p.Arg192Gly) n.586C>G c.340C>G (p.Arg114Gly) | |
| Y | g.12726710C>T | CA414981829 | USP9Y | c.574C>T (p.Arg192Cys) n.586C>T c.340C>T (p.Arg114Cys) | |
| Y | g.12726711G>A | CA10573050 | USP9Y | c.575G>A (p.Arg192His) n.587G>A c.341G>A (p.Arg114His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12726711G>C | CA414981831 | USP9Y | c.575G>C (p.Arg192Pro) n.587G>C c.341G>C (p.Arg114Pro) | |
| Y | g.12726711G= | CA2470554862 | USP9Y | c.575G= (p.Arg192=) n.587G= c.341G= (p.Arg114=) | |
| Y | g.12726711G>T | CA414981830 | USP9Y | c.575G>T (p.Arg192Leu) n.587G>T c.341G>T (p.Arg114Leu) | |
| Y | g.12726712T>A | CA519862870 | USP9Y | c.576T>A (p.Arg192=) n.588T>A c.342T>A (p.Arg114=) | |
| Y | g.12726712T>C | CA519862873 | USP9Y | c.576T>C (p.Arg192=) n.588T>C c.342T>C (p.Arg114=) | |
| Y | g.12726712T>G | CA519862874 | USP9Y | c.576T>G (p.Arg192=) n.588T>G c.342T>G (p.Arg114=) | |
| Y | g.12726713C>A | CA414981832 | USP9Y | c.577C>A (p.Pro193Thr) n.589C>A c.343C>A (p.Pro115Thr) | |
| Y | g.12726713C>G | CA414981834 | USP9Y | c.577C>G (p.Pro193Ala) n.589C>G c.343C>G (p.Pro115Ala) | |
| Y | g.12726713C>T | CA414981833 | USP9Y | c.577C>T (p.Pro193Ser) n.589C>T c.343C>T (p.Pro115Ser) | |
| Y | g.12726714C>A | CA10573051 | USP9Y | c.578C>A (p.Pro193Gln) n.590C>A c.344C>A (p.Pro115Gln) | dbSNP ExAC gnomAD v2 |
| Y | g.12726714C= | CA2470554863 | USP9Y | c.578C= (p.Pro193=) n.590C= c.344C= (p.Pro115=) | |
| Y | g.12726714C>G | CA337719113 | USP9Y | c.578C>G (p.Pro193Arg) n.590C>G c.344C>G (p.Pro115Arg) | dbSNP |
| Y | g.12726714C>T | CA414981835 | USP9Y | c.578C>T (p.Pro193Leu) n.590C>T c.344C>T (p.Pro115Leu) | |
| Y | g.12726715G>A | CA519862897 | USP9Y | c.579G>A (p.Pro193=) n.591G>A c.345G>A (p.Pro115=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| Y | g.12726715G>C | CA519862900 | USP9Y | c.579G>C (p.Pro193=) n.591G>C c.345G>C (p.Pro115=) | |
| Y | g.12726715G= | CA2470554864 | USP9Y | c.579G= (p.Pro193=) n.591G= c.345G= (p.Pro115=) | |
| Y | g.12726715G>T | CA519862901 | USP9Y | c.579G>T (p.Pro193=) n.591G>T c.345G>T (p.Pro115=) | |
| Y | g.12726716T>A | CA414981836 | USP9Y | c.580T>A (p.Cys194Ser) n.592T>A c.346T>A (p.Cys116Ser) | |
| Y | g.12726716T>C | CA414981837 | USP9Y | c.580T>C (p.Cys194Arg) n.592T>C c.346T>C (p.Cys116Arg) | |
| Y | g.12726716T>G | CA414981838 | USP9Y | c.580T>G (p.Cys194Gly) n.592T>G c.346T>G (p.Cys116Gly) | |
| Y | g.12726717G>A | CA414981839 | USP9Y | c.581G>A (p.Cys194Tyr) n.593G>A c.347G>A (p.Cys116Tyr) | |
| Y | g.12726717G>C | CA414981840 | USP9Y | c.581G>C (p.Cys194Ser) n.593G>C c.347G>C (p.Cys116Ser) | |
| Y | g.12726717G>T | CA414981841 | USP9Y | c.581G>T (p.Cys194Phe) n.593G>T c.347G>T (p.Cys116Phe) | |
| Y | g.12726718T>A | CA414981842 | USP9Y | c.582T>A (p.Cys194Ter) n.594T>A c.348T>A (p.Cys116Ter) | |
| Y | g.12726718T>C | CA519862912 | USP9Y | c.582T>C (p.Cys194=) n.594T>C c.348T>C (p.Cys116=) | |
| Y | g.12726718T>G | CA414981843 | USP9Y | c.582T>G (p.Cys194Trp) n.594T>G c.348T>G (p.Cys116Trp) | |
| Y | g.12726719G>A | CA414981846 | USP9Y | c.583G>A (p.Glu195Lys) n.595G>A c.349G>A (p.Glu117Lys) | |
| Y | g.12726719G>C | CA414981844 | USP9Y | c.583G>C (p.Glu195Gln) n.595G>C c.349G>C (p.Glu117Gln) | |
| Y | g.12726719G>T | CA414981845 | USP9Y | c.583G>T (p.Glu195Ter) n.595G>T c.349G>T (p.Glu117Ter) | |
| Y | g.12726720A>C | CA414981847 | USP9Y | c.584A>C (p.Glu195Ala) n.596A>C c.350A>C (p.Glu117Ala) | |
| Y | g.12726720A>G | CA414981848 | USP9Y | c.584A>G (p.Glu195Gly) n.596A>G c.350A>G (p.Glu117Gly) | |
| Y | g.12726720A>T | CA414981849 | USP9Y | c.584A>T (p.Glu195Val) n.596A>T c.350A>T (p.Glu117Val) | |
| Y | g.12726721A>C | CA414981850 | USP9Y | c.585A>C (p.Glu195Asp) n.597A>C c.351A>C (p.Glu117Asp) | |
| Y | g.12726721A>G | CA519862929 | USP9Y | c.585A>G (p.Glu195=) n.597A>G c.351A>G (p.Glu117=) | |
| Y | g.12726721A>T | CA414981851 | USP9Y | c.585A>T (p.Glu195Asp) n.597A>T c.351A>T (p.Glu117Asp) | |
| Y | g.12726722T>A | CA414981852 | USP9Y | c.586T>A (p.Leu196Ile) n.598T>A c.352T>A (p.Leu118Ile) | |
| Y | g.12726722T>C | CA519862940 | USP9Y | c.586T>C (p.Leu196=) n.598T>C c.352T>C (p.Leu118=) | |
| Y | g.12726722T>G | CA414981853 | USP9Y | c.586T>G (p.Leu196Val) n.598T>G c.352T>G (p.Leu118Val) | |
| Y | g.12726722_12726723del | CA2824884501 | USP9Y | c.586_587del (p.Leu196AsnfsTer9) n.598_599del c.352_353del (p.Leu118AsnfsTer9) | |
| Y | g.12726723T>A | CA414981854 | USP9Y | c.587T>A (p.Leu196Ter) n.599T>A c.353T>A (p.Leu118Ter) | |
| Y | g.12726723T>C | CA414981855 | USP9Y | c.587T>C (p.Leu196Ser) n.599T>C c.353T>C (p.Leu118Ser) | |
| Y | g.12726723T>G | CA414981856 | USP9Y | c.587T>G (p.Leu196Ter) n.599T>G c.353T>G (p.Leu118Ter) | |
| Y | g.12726724A>C | CA414981858 | USP9Y | c.588A>C (p.Leu196Phe) n.600A>C c.354A>C (p.Leu118Phe) | |
| Y | g.12726724A>G | CA519862950 | USP9Y | c.588A>G (p.Leu196=) n.600A>G c.354A>G (p.Leu118=) | |
| Y | g.12726724A>T | CA414981857 | USP9Y | c.588A>T (p.Leu196Phe) n.600A>T c.354A>T (p.Leu118Phe) | |
| Y | g.12726724_12726725insC | CA2824884502 | USP9Y | c.588_589insC (p.Ile197HisfsTer9) n.600_601insC c.354_355insC (p.Ile119HisfsTer9) | |
| Y | g.12726725A>C | CA414981859 | USP9Y | c.589A>C (p.Ile197Leu) n.601A>C c.355A>C (p.Ile119Leu) | |
| Y | g.12726725A>G | CA414981860 | USP9Y | c.589A>G (p.Ile197Val) n.601A>G c.355A>G (p.Ile119Val) | |
| Y | g.12726725A>T | CA414981861 | USP9Y | c.589A>T (p.Ile197Phe) n.601A>T c.355A>T (p.Ile119Phe) | |
| Y | g.12726726T>A | CA414981862 | USP9Y | c.590T>A (p.Ile197Asn) n.602T>A c.356T>A (p.Ile119Asn) | |
| Y | g.12726726T>C | CA414981863 | USP9Y | c.590T>C (p.Ile197Thr) n.602T>C c.356T>C (p.Ile119Thr) | |
| Y | g.12726726T>G | CA414981864 | USP9Y | c.590T>G (p.Ile197Ser) n.602T>G c.356T>G (p.Ile119Ser) | |
| Y | g.12726727T>A | CA519862960 | USP9Y | c.591T>A (p.Ile197=) n.603T>A c.357T>A (p.Ile119=) | |
| Y | g.12726727T>C | CA519862962 | USP9Y | c.591T>C (p.Ile197=) n.603T>C c.357T>C (p.Ile119=) | |
| Y | g.12726727T>G | CA414981865 | USP9Y | c.591T>G (p.Ile197Met) n.603T>G c.357T>G (p.Ile119Met) | |
| Y | g.12726728T>A | CA414981866 | USP9Y | c.592T>A (p.Ser198Thr) n.604T>A c.358T>A (p.Ser120Thr) | |
| Y | g.12726728T>C | CA414981867 | USP9Y | c.592T>C (p.Ser198Pro) n.604T>C c.358T>C (p.Ser120Pro) | |
| Y | g.12726728T>G | CA414981868 | USP9Y | c.592T>G (p.Ser198Ala) n.604T>G c.358T>G (p.Ser120Ala) | |
| Y | g.12726729C>A | CA414981869 | USP9Y | c.593C>A (p.Ser198Tyr) n.605C>A c.359C>A (p.Ser120Tyr) | |
| Y | g.12726729C>G | CA414981870 | USP9Y | c.593C>G (p.Ser198Cys) n.605C>G c.359C>G (p.Ser120Cys) | |
| Y | g.12726729C>T | CA414981871 | USP9Y | c.593C>T (p.Ser198Phe) n.605C>T c.359C>T (p.Ser120Phe) | |
| Y | g.12726730C>A | CA519862979 | USP9Y | c.594C>A (p.Ser198=) n.606C>A c.360C>A (p.Ser120=) | |
| Y | g.12726730C>G | CA519862982 | USP9Y | c.594C>G (p.Ser198=) n.606C>G c.360C>G (p.Ser120=) | |
| Y | g.12726730C>T | CA519862986 | USP9Y | c.594C>T (p.Ser198=) n.606C>T c.360C>T (p.Ser120=) | |
| Y | g.12726731T>A | CA414981874 | USP9Y | c.595T>A (p.Ser199Thr) n.607T>A c.361T>A (p.Ser121Thr) | |
| Y | g.12726731T>C | CA414981872 | USP9Y | c.595T>C (p.Ser199Pro) n.607T>C c.361T>C (p.Ser121Pro) | |
| Y | g.12726731T>G | CA414981873 | USP9Y | c.595T>G (p.Ser199Ala) n.607T>G c.361T>G (p.Ser121Ala) | |
| Y | g.12726731_12726732insG | CA2824884503 | USP9Y | c.595_596insG (p.Ser199CysfsTer7) n.607_608insG c.361_362insG (p.Ser121CysfsTer7) | |
| Y | g.12726732C>A | CA414981875 | USP9Y | c.596C>A (p.Ser199Ter) n.608C>A c.362C>A (p.Ser121Ter) | |
| Y | g.12726732C>G | CA414981876 | USP9Y | c.596C>G (p.Ser199Ter) n.608C>G c.362C>G (p.Ser121Ter) | |
| Y | g.12726732C>T | CA414981877 | USP9Y | c.596C>T (p.Ser199Leu) n.608C>T c.362C>T (p.Ser121Leu) | |
| Y | g.12726733A>C | CA519863003 | USP9Y | c.597A>C (p.Ser199=) n.609A>C c.363A>C (p.Ser121=) | |
| Y | g.12726733A>G | CA519863006 | USP9Y | c.597A>G (p.Ser199=) n.609A>G c.363A>G (p.Ser121=) | |
| Y | g.12726733A>T | CA519863008 | USP9Y | c.597A>T (p.Ser199=) n.609A>T c.363A>T (p.Ser121=) | |
| Y | g.12726733_12726734insGG | CA2824884504 | USP9Y | c.597_598insGG (p.Asn200GlyfsTer24) n.609_610insGG c.363_364insGG (p.Asn122GlyfsTer24) | |
| Y | g.12726734A>C | CA414981878 | USP9Y | c.598A>C (p.Asn200His) n.610A>C c.364A>C (p.Asn122His) | |
| Y | g.12726734A>G | CA414981879 | USP9Y | c.598A>G (p.Asn200Asp) n.610A>G c.364A>G (p.Asn122Asp) | |
| Y | g.12726734A>T | CA414981880 | USP9Y | c.598A>T (p.Asn200Tyr) n.610A>T c.364A>T (p.Asn122Tyr) | |
| Y | g.12726735A>C | CA414981881 | USP9Y | c.599A>C (p.Asn200Thr) n.611A>C c.365A>C (p.Asn122Thr) | |
| Y | g.12726735A>G | CA414981882 | USP9Y | c.599A>G (p.Asn200Ser) n.611A>G c.365A>G (p.Asn122Ser) | |
| Y | g.12726735A>T | CA414981883 | USP9Y | c.599A>T (p.Asn200Ile) n.611A>T c.365A>T (p.Asn122Ile) | |
| Y | g.12726736T>A | CA414981884 | USP9Y | c.600T>A (p.Asn200Lys) n.612T>A c.366T>A (p.Asn122Lys) | |
| Y | g.12726736T>C | CA519863031 | USP9Y | c.600T>C (p.Asn200=) n.612T>C c.366T>C (p.Asn122=) | |
| Y | g.12726736T>G | CA414981885 | USP9Y | c.600T>G (p.Asn200Lys) n.612T>G c.366T>G (p.Asn122Lys) | |
| Y | g.12726736_12726737insCCA | CA2824884505 | USP9Y | c.600_601insCCA (p.Asn200_Ala201insPro) n.612_613insCCA c.366_367insCCA (p.Asn122_Ala123insPro) | |
| Y | g.12726737G>A | CA414981886 | USP9Y | c.601G>A (p.Ala201Thr) n.613G>A c.367G>A (p.Ala123Thr) | |
| Y | g.12726737G>C | CA414981888 | USP9Y | c.601G>C (p.Ala201Pro) n.613G>C c.367G>C (p.Ala123Pro) | |
| Y | g.12726737G>T | CA414981887 | USP9Y | c.601G>T (p.Ala201Ser) n.613G>T c.367G>T (p.Ala123Ser) | |
| Y | g.12726738C>A | CA414981889 | USP9Y | c.602C>A (p.Ala201Asp) n.614C>A c.368C>A (p.Ala123Asp) | |
| Y | g.12726738C>G | CA414981891 | USP9Y | c.602C>G (p.Ala201Gly) n.614C>G c.368C>G (p.Ala123Gly) | |
| Y | g.12726738C>T | CA414981890 | USP9Y | c.602C>T (p.Ala201Val) n.614C>T c.368C>T (p.Ala123Val) | |
| Y | g.12726739T>A | CA519863046 | USP9Y | c.603T>A (p.Ala201=) n.615T>A c.369T>A (p.Ala123=) | |
| Y | g.12726739T>C | CA519863050 | USP9Y | c.603T>C (p.Ala201=) n.615T>C c.369T>C (p.Ala123=) | |
| Y | g.12726739T>G | CA519863053 | USP9Y | c.603T>G (p.Ala201=) n.615T>G c.369T>G (p.Ala123=) | |
| Y | g.12726740C>A | CA414981892 | USP9Y | c.604C>A (p.Gln202Lys) n.616C>A c.370C>A (p.Gln124Lys) | |
| Y | g.12726740C>G | CA414981893 | USP9Y | c.604C>G (p.Gln202Glu) n.616C>G c.370C>G (p.Gln124Glu) | |
| Y | g.12726740C>T | CA414981894 | USP9Y | c.604C>T (p.Gln202Ter) n.616C>T c.370C>T (p.Gln124Ter) | |
| Y | g.12726741del | CA2824884506 | USP9Y | c.605del (p.Gln202ArgfsTer21) n.617del c.371del (p.Gln124ArgfsTer21) | |
| Y | g.12726741A>C | CA414981895 | USP9Y | c.605A>C (p.Gln202Pro) n.617A>C c.371A>C (p.Gln124Pro) | |
| Y | g.12726741A>G | CA414981896 | USP9Y | c.605A>G (p.Gln202Arg) n.617A>G c.371A>G (p.Gln124Arg) | |
| Y | g.12726741A>T | CA414981897 | USP9Y | c.605A>T (p.Gln202Leu) n.617A>T c.371A>T (p.Gln124Leu) | |
| Y | g.12726742G>A | CA519863072 | USP9Y | c.606G>A (p.Gln202=) n.618G>A c.372G>A (p.Gln124=) | |
| Y | g.12726742G>C | CA414981898 | USP9Y | c.606G>C (p.Gln202His) n.618G>C c.372G>C (p.Gln124His) | |
| Y | g.12726742G>T | CA414981899 | USP9Y | c.606G>T (p.Gln202His) n.618G>T c.372G>T (p.Gln124His) | |
| Y | g.12726743T>A | CA414981900 | USP9Y | c.607T>A (p.Leu203Met) n.619T>A c.373T>A (p.Leu125Met) | |
| Y | g.12726743T>C | CA519863075 | USP9Y | c.607T>C (p.Leu203=) n.619T>C c.373T>C (p.Leu125=) | |
| Y | g.12726743T>G | CA414981901 | USP9Y | c.607T>G (p.Leu203Val) n.619T>G c.373T>G (p.Leu125Val) | |
| Y | g.12726744T>A | CA414981904 | USP9Y | c.608T>A (p.Leu203Ter) n.620T>A c.374T>A (p.Leu125Ter) | |
| Y | g.12726744T>C | CA414981903 | USP9Y | c.608T>C (p.Leu203Ser) n.620T>C c.374T>C (p.Leu125Ser) | |
| Y | g.12726744T>G | CA414981902 | USP9Y | c.608T>G (p.Leu203Trp) n.620T>G c.374T>G (p.Leu125Trp) | |
| Y | g.12726745G>A | CA519863088 | USP9Y | c.609G>A (p.Leu203=) n.621G>A c.375G>A (p.Leu125=) | |
| Y | g.12726745G>C | CA414981905 | USP9Y | c.609G>C (p.Leu203Phe) n.621G>C c.375G>C (p.Leu125Phe) | |
| Y | g.12726745G>T | CA414981906 | USP9Y | c.609G>T (p.Leu203Phe) n.621G>T c.375G>T (p.Leu125Phe) | |
| Y | g.12726746C>A | CA414981907 | USP9Y | c.610C>A (p.Pro204Thr) n.622C>A c.376C>A (p.Pro126Thr) | |
| Y | g.12726746C>G | CA414981908 | USP9Y | c.610C>G (p.Pro204Ala) n.622C>G c.376C>G (p.Pro126Ala) | |
| Y | g.12726746C>T | CA414981909 | USP9Y | c.610C>T (p.Pro204Ser) n.622C>T c.376C>T (p.Pro126Ser) | |
| Y | g.12726747C>A | CA414981910 | USP9Y | c.611C>A (p.Pro204His) n.623C>A c.377C>A (p.Pro126His) | |
| Y | g.12726747C>G | CA414981911 | USP9Y | c.611C>G (p.Pro204Arg) n.623C>G c.377C>G (p.Pro126Arg) | |
| Y | g.12726747C>T | CA414981912 | USP9Y | c.611C>T (p.Pro204Leu) n.623C>T c.377C>T (p.Pro126Leu) | |
| Y | g.12726748T>A | CA519863108 | USP9Y | c.612T>A (p.Pro204=) n.624T>A c.378T>A (p.Pro126=) | |
| Y | g.12726748T>C | CA519863111 | USP9Y | c.612T>C (p.Pro204=) n.624T>C c.378T>C (p.Pro126=) | |
| Y | g.12726748T>G | CA519863114 | USP9Y | c.612T>G (p.Pro204=) n.624T>G c.378T>G (p.Pro126=) | |
| Y | g.12726749G>A | CA414981913 | USP9Y | c.613G>A (p.Glu205Lys) n.625G>A c.379G>A (p.Glu127Lys) | |
| Y | g.12726749G>C | CA414981914 | USP9Y | c.613G>C (p.Glu205Gln) n.625G>C c.379G>C (p.Glu127Gln) | dbSNP gnomAD v2 |
| Y | g.12726749G= | CA2470554865 | USP9Y | c.613G= (p.Glu205=) n.625G= c.379G= (p.Glu127=) | |
| Y | g.12726749G>T | CA414981915 | USP9Y | c.613G>T (p.Glu205Ter) n.625G>T c.379G>T (p.Glu127Ter) | |
| Y | g.12726750A>C | CA414981918 | USP9Y | c.614A>C (p.Glu205Ala) n.626A>C c.380A>C (p.Glu127Ala) | |
| Y | g.12726750A>G | CA414981917 | USP9Y | c.614A>G (p.Glu205Gly) n.626A>G c.380A>G (p.Glu127Gly) | |
| Y | g.12726750A>T | CA414981916 | USP9Y | c.614A>T (p.Glu205Val) n.626A>T c.380A>T (p.Glu127Val) | |
| Y | g.12726751A>C | CA414981920 | USP9Y | c.615A>C (p.Glu205Asp) n.627A>C c.381A>C (p.Glu127Asp) | |
| Y | g.12726751A>G | CA519863147 | USP9Y | c.615A>G (p.Glu205=) n.627A>G c.381A>G (p.Glu127=) | |
| Y | g.12726751A>T | CA414981919 | USP9Y | c.615A>T (p.Glu205Asp) n.627A>T c.381A>T (p.Glu127Asp) | |
| Y | g.12726752G>A | CA414981921 | USP9Y | c.616G>A (p.Asp206Asn) n.628G>A c.382G>A (p.Asp128Asn) | |
| Y | g.12726752G>C | CA414981922 | USP9Y | c.616G>C (p.Asp206His) n.628G>C c.382G>C (p.Asp128His) | |
| Y | g.12726752G>T | CA414981923 | USP9Y | c.616G>T (p.Asp206Tyr) n.628G>T c.382G>T (p.Asp128Tyr) | |
| Y | g.12726753A= | CA2470554866 | USP9Y | c.617A= (p.Asp206=) n.629A= c.383A= (p.Asp128=) | |
| Y | g.12726753A>C | CA414981924 | USP9Y | c.617A>C (p.Asp206Ala) n.629A>C c.383A>C (p.Asp128Ala) | |
| Y | g.12726753A>G | CA10573052 | USP9Y | c.617A>G (p.Asp206Gly) n.629A>G c.383A>G (p.Asp128Gly) | dbSNP ExAC gnomAD v2 COSMIC |
| Y | g.12726753A>T | CA414981925 | USP9Y | c.617A>T (p.Asp206Val) n.629A>T c.383A>T (p.Asp128Val) | |
| Y | g.12726754T>A | CA414981926 | USP9Y | c.618T>A (p.Asp206Glu) n.630T>A c.384T>A (p.Asp128Glu) | |
| Y | g.12726754T>C | CA519863169 | USP9Y | c.618T>C (p.Asp206=) n.630T>C c.384T>C (p.Asp128=) | |
| Y | g.12726754T>G | CA414981927 | USP9Y | c.618T>G (p.Asp206Glu) n.630T>G c.384T>G (p.Asp128Glu) | |
| Y | g.12726755G>A | CA337719114 | USP9Y | c.619G>A (p.Glu207Lys) n.631G>A c.385G>A (p.Glu129Lys) | dbSNP |
| Y | g.12726755G>C | CA414981928 | USP9Y | c.619G>C (p.Glu207Gln) n.631G>C c.385G>C (p.Glu129Gln) | |
| Y | g.12726755G= | CA2470554867 | USP9Y | c.619G= (p.Glu207=) n.631G= c.385G= (p.Glu129=) | |
| Y | g.12726755G>T | CA414981929 | USP9Y | c.619G>T (p.Glu207Ter) n.631G>T c.385G>T (p.Glu129Ter) | |
| Y | g.12726756A>C | CA414981932 | USP9Y | c.620A>C (p.Glu207Ala) n.632A>C c.386A>C (p.Glu129Ala) | |
| Y | g.12726756A>G | CA414981930 | USP9Y | c.620A>G (p.Glu207Gly) n.632A>G c.386A>G (p.Glu129Gly) | |
| Y | g.12726756A>T | CA414981931 | USP9Y | c.620A>T (p.Glu207Val) n.632A>T c.386A>T (p.Glu129Val) | |
| Y | g.12726757A>C | CA414981933 | USP9Y | c.621A>C (p.Glu207Asp) n.633A>C c.387A>C (p.Glu129Asp) | |
| Y | g.12726757A>G | CA519863199 | USP9Y | c.621A>G (p.Glu207=) n.633A>G c.387A>G (p.Glu129=) | |
| Y | g.12726757A>T | CA414981934 | USP9Y | c.621A>T (p.Glu207Asp) n.633A>T c.387A>T (p.Glu129Asp) | |
| Y | g.12726758T>A | CA414981935 | USP9Y | c.622T>A (p.Leu208Ile) n.634T>A c.388T>A (p.Leu130Ile) | |
| Y | g.12726758T>C | CA519863205 | USP9Y | c.622T>C (p.Leu208=) n.634T>C c.388T>C (p.Leu130=) | |
| Y | g.12726758T>G | CA414981936 | USP9Y | c.622T>G (p.Leu208Val) n.634T>G c.388T>G (p.Leu130Val) | |
| Y | g.12726759T>A | CA414981937 | USP9Y | c.623T>A (p.Leu208Ter) n.635T>A c.389T>A (p.Leu130Ter) | |
| Y | g.12726759T>C | CA414981938 | USP9Y | c.623T>C (p.Leu208Ser) n.635T>C c.389T>C (p.Leu130Ser) | |
| Y | g.12726759T>G | CA414981939 | USP9Y | c.623T>G (p.Leu208Ter) n.635T>G c.389T>G (p.Leu130Ter) | |
| Y | g.12726760A>C | CA414981940 | USP9Y | c.624A>C (p.Leu208Phe) n.636A>C c.390A>C (p.Leu130Phe) | |
| Y | g.12726760A>G | CA519863219 | USP9Y | c.624A>G (p.Leu208=) n.636A>G c.390A>G (p.Leu130=) | |
| Y | g.12726760A>T | CA414981941 | USP9Y | c.624A>T (p.Leu208Phe) n.636A>T c.390A>T (p.Leu130Phe) | |
| Y | g.12726761T>A | CA414981942 | USP9Y | c.625T>A (p.Phe209Ile) n.637T>A c.391T>A (p.Phe131Ile) | |
| Y | g.12726761T>C | CA414981943 | USP9Y | c.625T>C (p.Phe209Leu) n.637T>C c.391T>C (p.Phe131Leu) | |
| Y | g.12726761T>G | CA414981944 | USP9Y | c.625T>G (p.Phe209Val) n.637T>G c.391T>G (p.Phe131Val) | gnomAD v3 gnomAD v4 |
| Y | g.12726762T>A | CA414981947 | USP9Y | c.626T>A (p.Phe209Tyr) n.638T>A c.392T>A (p.Phe131Tyr) | |
| Y | g.12726762T>C | CA414981946 | USP9Y | c.626T>C (p.Phe209Ser) n.638T>C c.392T>C (p.Phe131Ser) | |
| Y | g.12726762T>G | CA414981945 | USP9Y | c.626T>G (p.Phe209Cys) n.638T>G c.392T>G (p.Phe131Cys) | |
| Y | g.12726763T>A | CA414981948 | USP9Y | c.627T>A (p.Phe209Leu) n.639T>A c.393T>A (p.Phe131Leu) | |
| Y | g.12726763T>C | CA519863241 | USP9Y | c.627T>C (p.Phe209=) n.639T>C c.393T>C (p.Phe131=) | dbSNP gnomAD v2 |
| Y | g.12726763T>G | CA414981949 | USP9Y | c.627T>G (p.Phe209Leu) n.639T>G c.393T>G (p.Phe131Leu) | |
| Y | g.12726763T= | CA2470554868 | USP9Y | c.627T= (p.Phe209=) n.639T= c.393T= (p.Phe131=) | |
| Y | g.12726764G>A | CA414981950 | USP9Y | c.628G>A (p.Ala210Thr) n.640G>A c.394G>A (p.Ala132Thr) | |
| Y | g.12726764G>C | CA414981951 | USP9Y | c.628G>C (p.Ala210Pro) n.640G>C c.394G>C (p.Ala132Pro) | |
| Y | g.12726764G>T | CA414981952 | USP9Y | c.628G>T (p.Ala210Ser) n.640G>T c.394G>T (p.Ala132Ser) | |
| Y | g.12726765C>A | CA414981955 | USP9Y | c.629C>A (p.Ala210Asp) n.641C>A c.395C>A (p.Ala132Asp) | |
| Y | g.12726765C>G | CA414981954 | USP9Y | c.629C>G (p.Ala210Gly) n.641C>G c.395C>G (p.Ala132Gly) | |
| Y | g.12726765C>T | CA414981953 | USP9Y | c.629C>T (p.Ala210Val) n.641C>T c.395C>T (p.Ala132Val) | |
| Y | g.12726766T>A | CA519863256 | USP9Y | c.630T>A (p.Ala210=) n.642T>A c.396T>A (p.Ala132=) | |
| Y | g.12726766T>C | CA519863258 | USP9Y | c.630T>C (p.Ala210=) n.642T>C c.396T>C (p.Ala132=) | |
| Y | g.12726766T>G | CA519863261 | USP9Y | c.630T>G (p.Ala210=) n.642T>G c.396T>G (p.Ala132=) | |
| Y | g.12726767C>A | CA414981956 | USP9Y | c.631C>A (p.Arg211Ser) n.643C>A c.397C>A (p.Arg133Ser) | |
| Y | g.12726767C= | CA2470554869 | USP9Y | c.631C= (p.Arg211=) n.643C= c.397C= (p.Arg133=) | |
| Y | g.12726767C>G | CA414981957 | USP9Y | c.631C>G (p.Arg211Gly) n.643C>G c.397C>G (p.Arg133Gly) | |
| Y | g.12726767C>T | CA10573053 | USP9Y | c.631C>T (p.Arg211Cys) n.643C>T c.397C>T (p.Arg133Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| Y | g.12726768G>A | CA414981958 | USP9Y | c.632G>A (p.Arg211His) n.644G>A c.398G>A (p.Arg133His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12726768G>C | CA414981959 | USP9Y | c.632G>C (p.Arg211Pro) n.644G>C c.398G>C (p.Arg133Pro) | |
| Y | g.12726768G= | CA2470554870 | USP9Y | c.632G= (p.Arg211=) n.644G= c.398G= (p.Arg133=) | |
| Y | g.12726768G>T | CA414981960 | USP9Y | c.632G>T (p.Arg211Leu) n.644G>T c.398G>T (p.Arg133Leu) | |
| Y | g.12726769T>A | CA519863277 | USP9Y | c.633T>A (p.Arg211=) n.645T>A c.399T>A (p.Arg133=) | |
| Y | g.12726769T>C | CA519863280 | USP9Y | c.633T>C (p.Arg211=) n.645T>C c.399T>C (p.Arg133=) | |
| Y | g.12726769T>G | CA519863283 | USP9Y | c.633T>G (p.Arg211=) n.645T>G c.399T>G (p.Arg133=) | |
| Y | g.12726770T>A | CA414981963 | USP9Y | c.634T>A (p.Ser212Thr) n.646T>A c.400T>A (p.Ser134Thr) | |
| Y | g.12726770T>C | CA414981961 | USP9Y | c.634T>C (p.Ser212Pro) n.646T>C c.400T>C (p.Ser134Pro) | |
| Y | g.12726770T>G | CA414981962 | USP9Y | c.634T>G (p.Ser212Ala) n.646T>G c.400T>G (p.Ser134Ala) | |
| Y | g.12726771C>A | CA414981964 | USP9Y | c.635C>A (p.Ser212Tyr) n.647C>A c.401C>A (p.Ser134Tyr) | |
| Y | g.12726771C>G | CA414981965 | USP9Y | c.635C>G (p.Ser212Cys) n.647C>G c.401C>G (p.Ser134Cys) | |
| Y | g.12726771C>T | CA414981966 | USP9Y | c.635C>T (p.Ser212Phe) n.647C>T c.401C>T (p.Ser134Phe) | |
| Y | g.12726772T>A | CA519863297 | USP9Y | c.636T>A (p.Ser212=) n.648T>A c.402T>A (p.Ser134=) | |
| Y | g.12726772T>C | CA519863300 | USP9Y | c.636T>C (p.Ser212=) n.648T>C c.402T>C (p.Ser134=) | |
| Y | g.12726772T>G | CA519863304 | USP9Y | c.636T>G (p.Ser212=) n.648T>G c.402T>G (p.Ser134=) | |
| Y | g.12726773T>A | CA414981967 | USP9Y | c.637T>A (p.Ser213Thr) n.649T>A c.403T>A (p.Ser135Thr) | |
| Y | g.12726773T>C | CA414981968 | USP9Y | c.637T>C (p.Ser213Pro) n.649T>C c.403T>C (p.Ser135Pro) | |
| Y | g.12726773T>G | CA414981969 | USP9Y | c.637T>G (p.Ser213Ala) n.649T>G c.403T>G (p.Ser135Ala) | |
| Y | g.12726774C>A | CA414981970 | USP9Y | c.638C>A (p.Ser213Ter) n.650C>A c.404C>A (p.Ser135Ter) | |
| Y | g.12726774C>G | CA414981971 | USP9Y | c.638C>G (p.Ser213Ter) n.650C>G c.404C>G (p.Ser135Ter) | |
| Y | g.12726774C>T | CA414981972 | USP9Y | c.638C>T (p.Ser213Leu) n.650C>T c.404C>T (p.Ser135Leu) | |
| Y | g.12726775A= | CA2470554871 | USP9Y | c.639A= (p.Ser213=) n.651A= c.405A= (p.Ser135=) | |
| Y | g.12726775A>C | CA519863323 | USP9Y | c.639A>C (p.Ser213=) n.651A>C c.405A>C (p.Ser135=) | |
| Y | g.12726775A>G | CA519863326 | USP9Y | c.639A>G (p.Ser213=) n.651A>G c.405A>G (p.Ser135=) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.12726775A>T | CA519863328 | USP9Y | c.639A>T (p.Ser213=) n.651A>T c.405A>T (p.Ser135=) | gnomAD v3 gnomAD v4 |
| Y | g.12726776G>A | CA414981973 | USP9Y | c.640G>A (p.Asp214Asn) n.652G>A c.406G>A (p.Asp136Asn) | |
| Y | g.12726776G>C | CA414981974 | USP9Y | c.640G>C (p.Asp214His) n.652G>C c.406G>C (p.Asp136His) | |
| Y | g.12726776G>T | CA414981975 | USP9Y | c.640G>T (p.Asp214Tyr) n.652G>T c.406G>T (p.Asp136Tyr) |