Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.12833765A>C | CA414998957 | USP9Y | c.5099A>C (p.Asp1700Ala) n.5111A>C c.4865A>C (p.Asp1622Ala) c.5114A>C (p.Asp1705Ala) | |
Y | g.12833765A>G | CA414998954 | USP9Y | c.5099A>G (p.Asp1700Gly) n.5111A>G c.4865A>G (p.Asp1622Gly) c.5114A>G (p.Asp1705Gly) | |
Y | g.12833765A>T | CA414998956 | USP9Y | c.5099A>T (p.Asp1700Val) n.5111A>T c.4865A>T (p.Asp1622Val) c.5114A>T (p.Asp1705Val) | |
Y | g.12833766T>A | CA414998960 | USP9Y | c.5100T>A (p.Asp1700Glu) n.5112T>A c.4866T>A (p.Asp1622Glu) c.5115T>A (p.Asp1705Glu) | |
Y | g.12833766T>C | CA519901718 | USP9Y | c.5100T>C (p.Asp1700=) n.5112T>C c.4866T>C (p.Asp1622=) c.5115T>C (p.Asp1705=) | |
Y | g.12833766T>G | CA414998961 | USP9Y | c.5100T>G (p.Asp1700Glu) n.5112T>G c.4866T>G (p.Asp1622Glu) c.5115T>G (p.Asp1705Glu) | |
Y | g.12833767G>A | CA414998963 | USP9Y | c.5101G>A (p.Glu1701Lys) n.5113G>A c.4867G>A (p.Glu1623Lys) c.5116G>A (p.Glu1706Lys) | |
Y | g.12833767G>C | CA414998964 | USP9Y | c.5101G>C (p.Glu1701Gln) n.5113G>C c.4867G>C (p.Glu1623Gln) c.5116G>C (p.Glu1706Gln) | |
Y | g.12833767G>T | CA414998965 | USP9Y | c.5101G>T (p.Glu1701Ter) n.5113G>T c.4867G>T (p.Glu1623Ter) c.5116G>T (p.Glu1706Ter) | |
Y | g.12833768A>C | CA414998967 | USP9Y | c.5102A>C (p.Glu1701Ala) n.5114A>C c.4868A>C (p.Glu1623Ala) c.5117A>C (p.Glu1706Ala) | |
Y | g.12833768A>G | CA414998969 | USP9Y | c.5102A>G (p.Glu1701Gly) n.5114A>G c.4868A>G (p.Glu1623Gly) c.5117A>G (p.Glu1706Gly) | |
Y | g.12833768A>T | CA414998971 | USP9Y | c.5102A>T (p.Glu1701Val) n.5114A>T c.4868A>T (p.Glu1623Val) c.5117A>T (p.Glu1706Val) | |
Y | g.12833769A>C | CA414998973 | USP9Y | c.5103A>C (p.Glu1701Asp) n.5115A>C c.4869A>C (p.Glu1623Asp) c.5118A>C (p.Glu1706Asp) | |
Y | g.12833769A>G | CA519901729 | USP9Y | c.5103A>G (p.Glu1701=) n.5115A>G c.4869A>G (p.Glu1623=) c.5118A>G (p.Glu1706=) | |
Y | g.12833769A>T | CA414998975 | USP9Y | c.5103A>T (p.Glu1701Asp) n.5115A>T c.4869A>T (p.Glu1623Asp) c.5118A>T (p.Glu1706Asp) | |
Y | g.12833770G>A | CA414998982 | USP9Y | c.5104G>A (p.Ala1702Thr) n.5116G>A c.4870G>A (p.Ala1624Thr) c.5119G>A (p.Ala1707Thr) | |
Y | g.12833770G>C | CA414998979 | USP9Y | c.5104G>C (p.Ala1702Pro) n.5116G>C c.4870G>C (p.Ala1624Pro) c.5119G>C (p.Ala1707Pro) | |
Y | g.12833770G>T | CA414998977 | USP9Y | c.5104G>T (p.Ala1702Ser) n.5116G>T c.4870G>T (p.Ala1624Ser) c.5119G>T (p.Ala1707Ser) | |
Y | g.12833771C>A | CA414998985 | USP9Y | c.5105C>A (p.Ala1702Asp) n.5117C>A c.4871C>A (p.Ala1624Asp) c.5120C>A (p.Ala1707Asp) | |
Y | g.12833771C>G | CA414998986 | USP9Y | c.5105C>G (p.Ala1702Gly) n.5117C>G c.4871C>G (p.Ala1624Gly) c.5120C>G (p.Ala1707Gly) | |
Y | g.12833771C>T | CA414998988 | USP9Y | c.5105C>T (p.Ala1702Val) n.5117C>T c.4871C>T (p.Ala1624Val) c.5120C>T (p.Ala1707Val) | |
Y | g.12833772T>A | CA10573382 | USP9Y | c.5106T>A (p.Ala1702=) n.5118T>A c.4872T>A (p.Ala1624=) c.5121T>A (p.Ala1707=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12833772T>C | CA519901737 | USP9Y | c.5106T>C (p.Ala1702=) n.5118T>C c.4872T>C (p.Ala1624=) c.5121T>C (p.Ala1707=) | |
Y | g.12833772T>G | CA519901740 | USP9Y | c.5106T>G (p.Ala1702=) n.5118T>G c.4872T>G (p.Ala1624=) c.5121T>G (p.Ala1707=) | |
Y | g.12833772T= | CA2470560452 | USP9Y | c.5106T= (p.Ala1702=) n.5118T= c.4872T= (p.Ala1624=) c.5121T= (p.Ala1707=) | |
Y | g.12833773T>A | CA414998989 | USP9Y | c.5107T>A (p.Leu1703Ile) n.5119T>A c.4873T>A (p.Leu1625Ile) c.5122T>A (p.Leu1708Ile) | |
Y | g.12833773T>C | CA519901744 | USP9Y | c.5107T>C (p.Leu1703=) n.5119T>C c.4873T>C (p.Leu1625=) c.5122T>C (p.Leu1708=) | |
Y | g.12833773T>G | CA414998990 | USP9Y | c.5107T>G (p.Leu1703Val) n.5119T>G c.4873T>G (p.Leu1625Val) c.5122T>G (p.Leu1708Val) | |
Y | g.12833774T>A | CA414998993 | USP9Y | c.5108T>A (p.Leu1703Ter) n.5120T>A c.4874T>A (p.Leu1625Ter) c.5123T>A (p.Leu1708Ter) | |
Y | g.12833774T>C | CA414998991 | USP9Y | c.5108T>C (p.Leu1703Ser) n.5120T>C c.4874T>C (p.Leu1625Ser) c.5123T>C (p.Leu1708Ser) | |
Y | g.12833774T>G | CA414998992 | USP9Y | c.5108T>G (p.Leu1703Ter) n.5120T>G c.4874T>G (p.Leu1625Ter) c.5123T>G (p.Leu1708Ter) | |
Y | g.12833775A>C | CA414998994 | USP9Y | c.5109A>C (p.Leu1703Phe) n.5121A>C c.4875A>C (p.Leu1625Phe) c.5124A>C (p.Leu1708Phe) | |
Y | g.12833775A>G | CA519901752 | USP9Y | c.5109A>G (p.Leu1703=) n.5121A>G c.4875A>G (p.Leu1625=) c.5124A>G (p.Leu1708=) | |
Y | g.12833775A>T | CA414998995 | USP9Y | c.5109A>T (p.Leu1703Phe) n.5121A>T c.4875A>T (p.Leu1625Phe) c.5124A>T (p.Leu1708Phe) | |
Y | g.12833778del | CA2766242006 | USP9Y | c.5112del (p.Ala1705LeufsTer2) n.5124del c.4878del (p.Ala1627LeufsTer2) c.5127del (p.Ala1710LeufsTer2) | |
Y | g.12833776A>C | CA414998996 | USP9Y | c.5110A>C (p.Lys1704Gln) n.5122A>C c.4876A>C (p.Lys1626Gln) c.5125A>C (p.Lys1709Gln) | |
Y | g.12833776A>G | CA414998997 | USP9Y | c.5110A>G (p.Lys1704Glu) n.5122A>G c.4876A>G (p.Lys1626Glu) c.5125A>G (p.Lys1709Glu) | |
Y | g.12833776A>T | CA414998998 | USP9Y | c.5110A>T (p.Lys1704Ter) n.5122A>T c.4876A>T (p.Lys1626Ter) c.5125A>T (p.Lys1709Ter) | |
Y | g.12833777A>C | CA414998999 | USP9Y | c.5111A>C (p.Lys1704Thr) n.5123A>C c.4877A>C (p.Lys1626Thr) c.5126A>C (p.Lys1709Thr) | |
Y | g.12833777A>G | CA414999001 | USP9Y | c.5111A>G (p.Lys1704Arg) n.5123A>G c.4877A>G (p.Lys1626Arg) c.5126A>G (p.Lys1709Arg) | |
Y | g.12833777A>T | CA414999000 | USP9Y | c.5111A>T (p.Lys1704Ile) n.5123A>T c.4877A>T (p.Lys1626Ile) c.5126A>T (p.Lys1709Ile) | |
Y | g.12833778A>C | CA414999002 | USP9Y | c.5112A>C (p.Lys1704Asn) n.5124A>C c.4878A>C (p.Lys1626Asn) c.5127A>C (p.Lys1709Asn) | |
Y | g.12833778A>G | CA519901763 | USP9Y | c.5112A>G (p.Lys1704=) n.5124A>G c.4878A>G (p.Lys1626=) c.5127A>G (p.Lys1709=) | |
Y | g.12833778A>T | CA414999003 | USP9Y | c.5112A>T (p.Lys1704Asn) n.5124A>T c.4878A>T (p.Lys1626Asn) c.5127A>T (p.Lys1709Asn) | |
Y | g.12833779G>A | CA414999005 | USP9Y | c.5113G>A (p.Ala1705Thr) n.5125G>A c.4879G>A (p.Ala1627Thr) c.5128G>A (p.Ala1710Thr) | |
Y | g.12833779G>C | CA414999007 | USP9Y | c.5113G>C (p.Ala1705Pro) n.5125G>C c.4879G>C (p.Ala1627Pro) c.5128G>C (p.Ala1710Pro) | |
Y | g.12833779G= | CA2470560453 | USP9Y | c.5113G= (p.Ala1705=) n.5125G= c.4879G= (p.Ala1627=) c.5128G= (p.Ala1710=) | |
Y | g.12833779G>T | CA337720911 | USP9Y | c.5113G>T (p.Ala1705Ser) n.5125G>T c.4879G>T (p.Ala1627Ser) c.5128G>T (p.Ala1710Ser) | dbSNP |
Y | g.12833780C>A | CA414999009 | USP9Y | c.5114C>A (p.Ala1705Asp) n.5126C>A c.4880C>A (p.Ala1627Asp) c.5129C>A (p.Ala1710Asp) | |
Y | g.12833780C>G | CA414999010 | USP9Y | c.5114C>G (p.Ala1705Gly) n.5126C>G c.4880C>G (p.Ala1627Gly) c.5129C>G (p.Ala1710Gly) | |
Y | g.12833780C>T | CA414999011 | USP9Y | c.5114C>T (p.Ala1705Val) n.5126C>T c.4880C>T (p.Ala1627Val) c.5129C>T (p.Ala1710Val) | |
Y | g.12833781T>A | CA519901772 | USP9Y | c.5115T>A (p.Ala1705=) n.5127T>A c.4881T>A (p.Ala1627=) c.5130T>A (p.Ala1710=) | |
Y | g.12833781T>C | CA519901773 | USP9Y | c.5115T>C (p.Ala1705=) n.5127T>C c.4881T>C (p.Ala1627=) c.5130T>C (p.Ala1710=) | |
Y | g.12833781T>G | CA519901776 | USP9Y | c.5115T>G (p.Ala1705=) n.5127T>G c.4881T>G (p.Ala1627=) c.5130T>G (p.Ala1710=) | |
Y | g.12833782T>A | CA414999014 | USP9Y | c.5116T>A (p.Leu1706Ile) n.5128T>A c.4882T>A (p.Leu1628Ile) c.5131T>A (p.Leu1711Ile) | |
Y | g.12833782T>C | CA519901781 | USP9Y | c.5116T>C (p.Leu1706=) n.5128T>C c.4882T>C (p.Leu1628=) c.5131T>C (p.Leu1711=) | |
Y | g.12833782T>G | CA414999015 | USP9Y | c.5116T>G (p.Leu1706Val) n.5128T>G c.4882T>G (p.Leu1628Val) c.5131T>G (p.Leu1711Val) | |
Y | g.12833783T>A | CA414999020 | USP9Y | c.5117T>A (p.Leu1706Ter) n.5129T>A c.4883T>A (p.Leu1628Ter) c.5132T>A (p.Leu1711Ter) | |
Y | g.12833783T>C | CA414999017 | USP9Y | c.5117T>C (p.Leu1706Ser) n.5129T>C c.4883T>C (p.Leu1628Ser) c.5132T>C (p.Leu1711Ser) | |
Y | g.12833783T>G | CA414999018 | USP9Y | c.5117T>G (p.Leu1706Ter) n.5129T>G c.4883T>G (p.Leu1628Ter) c.5132T>G (p.Leu1711Ter) | |
Y | g.12833784A>C | CA414999022 | USP9Y | c.5118A>C (p.Leu1706Phe) n.5130A>C c.4884A>C (p.Leu1628Phe) c.5133A>C (p.Leu1711Phe) | |
Y | g.12833784A>G | CA519901790 | USP9Y | c.5118A>G (p.Leu1706=) n.5130A>G c.4884A>G (p.Leu1628=) c.5133A>G (p.Leu1711=) | |
Y | g.12833784A>T | CA414999023 | USP9Y | c.5118A>T (p.Leu1706Phe) n.5130A>T c.4884A>T (p.Leu1628Phe) c.5133A>T (p.Leu1711Phe) | |
Y | g.12833785G>A | CA414999025 | USP9Y | c.5119G>A (p.Gly1707Arg) n.5131G>A c.4885G>A (p.Gly1629Arg) c.5134G>A (p.Gly1712Arg) | |
Y | g.12833785G>C | CA414999027 | USP9Y | c.5119G>C (p.Gly1707Arg) n.5131G>C c.4885G>C (p.Gly1629Arg) c.5134G>C (p.Gly1712Arg) | |
Y | g.12833785G>T | CA414999029 | USP9Y | c.5119G>T (p.Gly1707Ter) n.5131G>T c.4885G>T (p.Gly1629Ter) c.5134G>T (p.Gly1712Ter) | |
Y | g.12833786G>A | CA414999030 | USP9Y | c.5120G>A (p.Gly1707Glu) n.5132G>A c.4886G>A (p.Gly1629Glu) c.5135G>A (p.Gly1712Glu) | |
Y | g.12833786G>C | CA414999031 | USP9Y | c.5120G>C (p.Gly1707Ala) n.5132G>C c.4886G>C (p.Gly1629Ala) c.5135G>C (p.Gly1712Ala) | |
Y | g.12833786G>T | CA414999033 | USP9Y | c.5120G>T (p.Gly1707Val) n.5132G>T c.4886G>T (p.Gly1629Val) c.5135G>T (p.Gly1712Val) | |
Y | g.12833787A>C | CA519901801 | USP9Y | c.5121A>C (p.Gly1707=) n.5133A>C c.4887A>C (p.Gly1629=) c.5136A>C (p.Gly1712=) | |
Y | g.12833787A>G | CA519901803 | USP9Y | c.5121A>G (p.Gly1707=) n.5133A>G c.4887A>G (p.Gly1629=) c.5136A>G (p.Gly1712=) | |
Y | g.12833787A>T | CA519901805 | USP9Y | c.5121A>T (p.Gly1707=) n.5133A>T c.4887A>T (p.Gly1629=) c.5136A>T (p.Gly1712=) | |
Y | g.12833788C>A | CA414999035 | USP9Y | c.5122C>A (p.His1708Asn) n.5134C>A c.4888C>A (p.His1630Asn) c.5137C>A (p.His1713Asn) | |
Y | g.12833788C= | CA2470560454 | USP9Y | c.5122C= (p.His1708=) n.5134C= c.4888C= (p.His1630=) c.5137C= (p.His1713=) | |
Y | g.12833788C>G | CA414999037 | USP9Y | c.5122C>G (p.His1708Asp) n.5134C>G c.4888C>G (p.His1630Asp) c.5137C>G (p.His1713Asp) | |
Y | g.12833788C>T | CA414999038 | USP9Y | c.5122C>T (p.His1708Tyr) n.5134C>T c.4888C>T (p.His1630Tyr) c.5137C>T (p.His1713Tyr) | dbSNP gnomAD v2 |
Y | g.12833789A>C | CA414999044 | USP9Y | c.5123A>C (p.His1708Pro) n.5135A>C c.4889A>C (p.His1630Pro) c.5138A>C (p.His1713Pro) | |
Y | g.12833789A>G | CA414999042 | USP9Y | c.5123A>G (p.His1708Arg) n.5135A>G c.4889A>G (p.His1630Arg) c.5138A>G (p.His1713Arg) | |
Y | g.12833789A>T | CA414999040 | USP9Y | c.5123A>T (p.His1708Leu) n.5135A>T c.4889A>T (p.His1630Leu) c.5138A>T (p.His1713Leu) | |
Y | g.12833790C>A | CA414999045 | USP9Y | c.5124C>A (p.His1708Gln) n.5136C>A c.4890C>A (p.His1630Gln) c.5139C>A (p.His1713Gln) | |
Y | g.12833790C>G | CA414999047 | USP9Y | c.5124C>G (p.His1708Gln) n.5136C>G c.4890C>G (p.His1630Gln) c.5139C>G (p.His1713Gln) | |
Y | g.12833790C>T | CA519901815 | USP9Y | c.5124C>T (p.His1708=) n.5136C>T c.4890C>T (p.His1630=) c.5139C>T (p.His1713=) | |
Y | g.12833791C>A | CA414999049 | USP9Y | c.5125C>A (p.Pro1709Thr) n.5137C>A c.4891C>A (p.Pro1631Thr) c.5140C>A (p.Pro1714Thr) | |
Y | g.12833791C>G | CA414999051 | USP9Y | c.5125C>G (p.Pro1709Ala) n.5137C>G c.4891C>G (p.Pro1631Ala) c.5140C>G (p.Pro1714Ala) | |
Y | g.12833791C>T | CA414999052 | USP9Y | c.5125C>T (p.Pro1709Ser) n.5137C>T c.4891C>T (p.Pro1631Ser) c.5140C>T (p.Pro1714Ser) | |
Y | g.12833792C>A | CA414999054 | USP9Y | c.5126C>A (p.Pro1709Gln) n.5138C>A c.4892C>A (p.Pro1631Gln) c.5141C>A (p.Pro1714Gln) | |
Y | g.12833792C>G | CA414999056 | USP9Y | c.5126C>G (p.Pro1709Arg) n.5138C>G c.4892C>G (p.Pro1631Arg) c.5141C>G (p.Pro1714Arg) | |
Y | g.12833792C>T | CA414999057 | USP9Y | c.5126C>T (p.Pro1709Leu) n.5138C>T c.4892C>T (p.Pro1631Leu) c.5141C>T (p.Pro1714Leu) | |
Y | g.12833793G>A | CA10573383 | USP9Y | c.5127G>A (p.Pro1709=) n.5139G>A c.4893G>A (p.Pro1631=) c.5142G>A (p.Pro1714=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12833793G>C | CA519901826 | USP9Y | c.5127G>C (p.Pro1709=) n.5139G>C c.4893G>C (p.Pro1631=) c.5142G>C (p.Pro1714=) | |
Y | g.12833793G= | CA2470560455 | USP9Y | c.5127G= (p.Pro1709=) n.5139G= c.4893G= (p.Pro1631=) c.5142G= (p.Pro1714=) | |
Y | g.12833793G>T | CA519901828 | USP9Y | c.5127G>T (p.Pro1709=) n.5139G>T c.4893G>T (p.Pro1631=) c.5142G>T (p.Pro1714=) | |
Y | g.12833794G>A | CA414999060 | USP9Y | c.5128G>A (p.Ala1710Thr) n.5140G>A c.4894G>A (p.Ala1632Thr) c.5143G>A (p.Ala1715Thr) | |
Y | g.12833794G>C | CA414999062 | USP9Y | c.5128G>C (p.Ala1710Pro) n.5140G>C c.4894G>C (p.Ala1632Pro) c.5143G>C (p.Ala1715Pro) | |
Y | g.12833794G= | CA2470560456 | USP9Y | c.5128G= (p.Ala1710=) n.5140G= c.4894G= (p.Ala1632=) c.5143G= (p.Ala1715=) | |
Y | g.12833794G>T | CA414999063 | USP9Y | c.5128G>T (p.Ala1710Ser) n.5140G>T c.4894G>T (p.Ala1632Ser) c.5143G>T (p.Ala1715Ser) | dbSNP gnomAD v2 |
Y | g.12833795C>A | CA414999065 | USP9Y | c.5129C>A (p.Ala1710Asp) n.5141C>A c.4895C>A (p.Ala1632Asp) c.5144C>A (p.Ala1715Asp) | |
Y | g.12833795C>G | CA414999068 | USP9Y | c.5129C>G (p.Ala1710Gly) n.5141C>G c.4895C>G (p.Ala1632Gly) c.5144C>G (p.Ala1715Gly) | |
Y | g.12833795C>T | CA414999067 | USP9Y | c.5129C>T (p.Ala1710Val) n.5141C>T c.4895C>T (p.Ala1632Val) c.5144C>T (p.Ala1715Val) | |
Y | g.12833796T>A | CA519901837 | USP9Y | c.5130T>A (p.Ala1710=) n.5142T>A c.4896T>A (p.Ala1632=) c.5145T>A (p.Ala1715=) | |
Y | g.12833796T>C | CA519901840 | USP9Y | c.5130T>C (p.Ala1710=) n.5142T>C c.4896T>C (p.Ala1632=) c.5145T>C (p.Ala1715=) | |
Y | g.12833796T>G | CA519901838 | USP9Y | c.5130T>G (p.Ala1710=) n.5142T>G c.4896T>G (p.Ala1632=) c.5145T>G (p.Ala1715=) | |
Y | g.12833797A>C | CA414999070 | USP9Y | c.5131A>C (p.Ile1711Leu) n.5143A>C c.4897A>C (p.Ile1633Leu) c.5146A>C (p.Ile1716Leu) | |
Y | g.12833797A>G | CA414999074 | USP9Y | c.5131A>G (p.Ile1711Val) n.5143A>G c.4897A>G (p.Ile1633Val) c.5146A>G (p.Ile1716Val) | |
Y | g.12833797A>T | CA414999072 | USP9Y | c.5131A>T (p.Ile1711Leu) n.5143A>T c.4897A>T (p.Ile1633Leu) c.5146A>T (p.Ile1716Leu) | |
Y | g.12833798T>A | CA414999075 | USP9Y | c.5132T>A (p.Ile1711Lys) n.5144T>A c.4898T>A (p.Ile1633Lys) c.5147T>A (p.Ile1716Lys) | |
Y | g.12833798T>C | CA414999077 | USP9Y | c.5132T>C (p.Ile1711Thr) n.5144T>C c.4898T>C (p.Ile1633Thr) c.5147T>C (p.Ile1716Thr) | |
Y | g.12833798T>G | CA414999079 | USP9Y | c.5132T>G (p.Ile1711Arg) n.5144T>G c.4898T>G (p.Ile1633Arg) c.5147T>G (p.Ile1716Arg) | |
Y | g.12833799A= | CA2470560457 | USP9Y | c.5133A= (p.Ile1711=) n.5145A= c.4899A= (p.Ile1633=) c.5148A= (p.Ile1716=) | |
Y | g.12833799A>C | CA519901847 | USP9Y | c.5133A>C (p.Ile1711=) n.5145A>C c.4899A>C (p.Ile1633=) c.5148A>C (p.Ile1716=) | |
Y | g.12833799A>G | CA414999081 | USP9Y | c.5133A>G (p.Ile1711Met) n.5145A>G c.4899A>G (p.Ile1633Met) c.5148A>G (p.Ile1716Met) | dbSNP gnomAD v2 |
Y | g.12833799A>T | CA519901850 | USP9Y | c.5133A>T (p.Ile1711=) n.5145A>T c.4899A>T (p.Ile1633=) c.5148A>T (p.Ile1716=) | |
Y | g.12833800C>A | CA414999082 | USP9Y | c.5134C>A (p.Leu1712Ile) n.5146C>A c.4900C>A (p.Leu1634Ile) c.5149C>A (p.Leu1717Ile) | |
Y | g.12833800C>G | CA414999084 | USP9Y | c.5134C>G (p.Leu1712Val) n.5146C>G c.4900C>G (p.Leu1634Val) c.5149C>G (p.Leu1717Val) | |
Y | g.12833800C>T | CA519901854 | USP9Y | c.5134C>T (p.Leu1712=) n.5146C>T c.4900C>T (p.Leu1634=) c.5149C>T (p.Leu1717=) | |
Y | g.12833801T>A | CA414999086 | USP9Y | c.5135T>A (p.Leu1712Gln) n.5147T>A c.4901T>A (p.Leu1634Gln) c.5150T>A (p.Leu1717Gln) | |
Y | g.12833801T>C | CA414999088 | USP9Y | c.5135T>C (p.Leu1712Pro) n.5147T>C c.4901T>C (p.Leu1634Pro) c.5150T>C (p.Leu1717Pro) | |
Y | g.12833801T>G | CA414999089 | USP9Y | c.5135T>G (p.Leu1712Arg) n.5147T>G c.4901T>G (p.Leu1634Arg) c.5150T>G (p.Leu1717Arg) | |
Y | g.12833802A>C | CA519901861 | USP9Y | c.5136A>C (p.Leu1712=) n.5148A>C c.4902A>C (p.Leu1634=) c.5151A>C (p.Leu1717=) | |
Y | g.12833802A>G | CA519901866 | USP9Y | c.5136A>G (p.Leu1712=) n.5148A>G c.4902A>G (p.Leu1634=) c.5151A>G (p.Leu1717=) | |
Y | g.12833802A>T | CA519901864 | USP9Y | c.5136A>T (p.Leu1712=) n.5148A>T c.4902A>T (p.Leu1634=) c.5151A>T (p.Leu1717=) | |
Y | g.12833803A>C | CA414999094 | USP9Y | c.5137A>C (p.Ser1713Arg) n.5149A>C c.4903A>C (p.Ser1635Arg) c.5152A>C (p.Ser1718Arg) | |
Y | g.12833803A>G | CA414999093 | USP9Y | c.5137A>G (p.Ser1713Gly) n.5149A>G c.4903A>G (p.Ser1635Gly) c.5152A>G (p.Ser1718Gly) | |
Y | g.12833803A>T | CA414999092 | USP9Y | c.5137A>T (p.Ser1713Cys) n.5149A>T c.4903A>T (p.Ser1635Cys) c.5152A>T (p.Ser1718Cys) | |
Y | g.12833804G>A | CA10573384 | USP9Y | c.5138G>A (p.Ser1713Asn) n.5150G>A c.4904G>A (p.Ser1635Asn) c.5153G>A (p.Ser1718Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12833804G>C | CA414999097 | USP9Y | c.5138G>C (p.Ser1713Thr) n.5150G>C c.4904G>C (p.Ser1635Thr) c.5153G>C (p.Ser1718Thr) | |
Y | g.12833804G= | CA2470560458 | USP9Y | c.5138G= (p.Ser1713=) n.5150G= c.4904G= (p.Ser1635=) c.5153G= (p.Ser1718=) | |
Y | g.12833804G>T | CA414999099 | USP9Y | c.5138G>T (p.Ser1713Ile) n.5150G>T c.4904G>T (p.Ser1635Ile) c.5153G>T (p.Ser1718Ile) | |
Y | g.12833805T>A | CA414999101 | USP9Y | c.5139T>A (p.Ser1713Arg) n.5151T>A c.4905T>A (p.Ser1635Arg) c.5154T>A (p.Ser1718Arg) | |
Y | g.12833805T>C | CA519901873 | USP9Y | c.5139T>C (p.Ser1713=) n.5151T>C c.4905T>C (p.Ser1635=) c.5154T>C (p.Ser1718=) | |
Y | g.12833805T>G | CA414999102 | USP9Y | c.5139T>G (p.Ser1713Arg) n.5151T>G c.4905T>G (p.Ser1635Arg) c.5154T>G (p.Ser1718Arg) | |
Y | g.12833806A>C | CA414999104 | USP9Y | c.5140A>C (p.Lys1714Gln) n.5152A>C c.4906A>C (p.Lys1636Gln) c.5155A>C (p.Lys1719Gln) | |
Y | g.12833806A>G | CA414999105 | USP9Y | c.5140A>G (p.Lys1714Glu) n.5152A>G c.4906A>G (p.Lys1636Glu) c.5155A>G (p.Lys1719Glu) | |
Y | g.12833806A>T | CA414999107 | USP9Y | c.5140A>T (p.Lys1714Ter) n.5152A>T c.4906A>T (p.Lys1636Ter) c.5155A>T (p.Lys1719Ter) | |
Y | g.12833807A>C | CA414999109 | USP9Y | c.5141A>C (p.Lys1714Thr) n.5153A>C c.4907A>C (p.Lys1636Thr) c.5156A>C (p.Lys1719Thr) | |
Y | g.12833807A>G | CA414999110 | USP9Y | c.5141A>G (p.Lys1714Arg) n.5153A>G c.4907A>G (p.Lys1636Arg) c.5156A>G (p.Lys1719Arg) | |
Y | g.12833807A>T | CA414999112 | USP9Y | c.5141A>T (p.Lys1714Ile) n.5153A>T c.4907A>T (p.Lys1636Ile) c.5156A>T (p.Lys1719Ile) | |
Y | g.12833808A>C | CA414999116 | USP9Y | c.5142A>C (p.Lys1714Asn) n.5154A>C c.4908A>C (p.Lys1636Asn) c.5157A>C (p.Lys1719Asn) | |
Y | g.12833808A>G | CA519901884 | USP9Y | c.5142A>G (p.Lys1714=) n.5154A>G c.4908A>G (p.Lys1636=) c.5157A>G (p.Lys1719=) | |
Y | g.12833808A>T | CA414999114 | USP9Y | c.5142A>T (p.Lys1714Asn) n.5154A>T c.4908A>T (p.Lys1636Asn) c.5157A>T (p.Lys1719Asn) | |
Y | g.12833809G>A | CA414999118 | USP9Y | c.5143G>A (p.Val1715Ile) n.5155G>A c.4909G>A (p.Val1637Ile) c.5158G>A (p.Val1720Ile) | |
Y | g.12833809G>C | CA414999119 | USP9Y | c.5143G>C (p.Val1715Leu) n.5155G>C c.4909G>C (p.Val1637Leu) c.5158G>C (p.Val1720Leu) | |
Y | g.12833809G>T | CA414999121 | USP9Y | c.5143G>T (p.Val1715Phe) n.5155G>T c.4909G>T (p.Val1637Phe) c.5158G>T (p.Val1720Phe) | |
Y | g.12833810T>A | CA414999123 | USP9Y | c.5144T>A (p.Val1715Asp) n.5156T>A c.4910T>A (p.Val1637Asp) c.5159T>A (p.Val1720Asp) | |
Y | g.12833810T>C | CA414999124 | USP9Y | c.5144T>C (p.Val1715Ala) n.5156T>C c.4910T>C (p.Val1637Ala) c.5159T>C (p.Val1720Ala) | |
Y | g.12833810T>G | CA414999126 | USP9Y | c.5144T>G (p.Val1715Gly) n.5156T>G c.4910T>G (p.Val1637Gly) c.5159T>G (p.Val1720Gly) | |
Y | g.12833811C>A | CA519901897 | USP9Y | c.5145C>A (p.Val1715=) n.5157C>A c.4911C>A (p.Val1637=) c.5160C>A (p.Val1720=) | |
Y | g.12833811C>G | CA519901894 | USP9Y | c.5145C>G (p.Val1715=) n.5157C>G c.4911C>G (p.Val1637=) c.5160C>G (p.Val1720=) | |
Y | g.12833811C>T | CA519901896 | USP9Y | c.5145C>T (p.Val1715=) n.5157C>T c.4911C>T (p.Val1637=) c.5160C>T (p.Val1720=) | |
Y | g.12833812C>A | CA414999128 | USP9Y | c.5146C>A (p.Leu1716Ile) n.5158C>A c.4912C>A (p.Leu1638Ile) c.5161C>A (p.Leu1721Ile) | |
Y | g.12833812C>G | CA414999130 | USP9Y | c.5146C>G (p.Leu1716Val) n.5158C>G c.4912C>G (p.Leu1638Val) c.5161C>G (p.Leu1721Val) | |
Y | g.12833812C>T | CA519901901 | USP9Y | c.5146C>T (p.Leu1716=) n.5158C>T c.4912C>T (p.Leu1638=) c.5161C>T (p.Leu1721=) | |
Y | g.12833813T>A | CA414999131 | USP9Y | c.5147T>A (p.Leu1716Gln) n.5159T>A c.4913T>A (p.Leu1638Gln) c.5162T>A (p.Leu1721Gln) | |
Y | g.12833813T>C | CA414999132 | USP9Y | c.5147T>C (p.Leu1716Pro) n.5159T>C c.4913T>C (p.Leu1638Pro) c.5162T>C (p.Leu1721Pro) | |
Y | g.12833813T>G | CA414999134 | USP9Y | c.5147T>G (p.Leu1716Arg) n.5159T>G c.4913T>G (p.Leu1638Arg) c.5162T>G (p.Leu1721Arg) | |
Y | g.12833814A>C | CA519901908 | USP9Y | c.5148A>C (p.Leu1716=) n.5160A>C c.4914A>C (p.Leu1638=) c.5163A>C (p.Leu1721=) | |
Y | g.12833814A>G | CA519901910 | USP9Y | c.5148A>G (p.Leu1716=) n.5160A>G c.4914A>G (p.Leu1638=) c.5163A>G (p.Leu1721=) | |
Y | g.12833814A>T | CA519901913 | USP9Y | c.5148A>T (p.Leu1716=) n.5160A>T c.4914A>T (p.Leu1638=) c.5163A>T (p.Leu1721=) | |
Y | g.12833815G>A | CA414999139 | USP9Y | c.5149G>A (p.Gly1717Arg) n.5161G>A c.4915G>A (p.Gly1639Arg) c.5164G>A (p.Gly1722Arg) | |
Y | g.12833815G>C | CA414999138 | USP9Y | c.5149G>C (p.Gly1717Arg) n.5161G>C c.4915G>C (p.Gly1639Arg) c.5164G>C (p.Gly1722Arg) | |
Y | g.12833815G>T | CA414999136 | USP9Y | c.5149G>T (p.Gly1717Ter) n.5161G>T c.4915G>T (p.Gly1639Ter) c.5164G>T (p.Gly1722Ter) | |
Y | g.12833816G>A | CA414999141 | USP9Y | c.5150G>A (p.Gly1717Glu) n.5162G>A c.4916G>A (p.Gly1639Glu) c.5165G>A (p.Gly1722Glu) | |
Y | g.12833816G>C | CA414999142 | USP9Y | c.5150G>C (p.Gly1717Ala) n.5162G>C c.4916G>C (p.Gly1639Ala) c.5165G>C (p.Gly1722Ala) | |
Y | g.12833816G>T | CA414999144 | USP9Y | c.5150G>T (p.Gly1717Val) n.5162G>T c.4916G>T (p.Gly1639Val) c.5165G>T (p.Gly1722Val) | |
Y | g.12833817A>C | CA519901920 | USP9Y | c.5151A>C (p.Gly1717=) n.5163A>C c.4917A>C (p.Gly1639=) c.5166A>C (p.Gly1722=) | |
Y | g.12833817A>G | CA519901921 | USP9Y | c.5151A>G (p.Gly1717=) n.5163A>G c.4917A>G (p.Gly1639=) c.5166A>G (p.Gly1722=) | |
Y | g.12833817A>T | CA519901923 | USP9Y | c.5151A>T (p.Gly1717=) n.5163A>T c.4917A>T (p.Gly1639=) c.5166A>T (p.Gly1722=) | |
Y | g.12833818G>A | CA414999146 | USP9Y | c.5152G>A (p.Gly1718Ser) n.5164G>A c.4918G>A (p.Gly1640Ser) c.5167G>A (p.Gly1723Ser) | |
Y | g.12833818G>C | CA414999147 | USP9Y | c.5152G>C (p.Gly1718Arg) n.5164G>C c.4918G>C (p.Gly1640Arg) c.5167G>C (p.Gly1723Arg) | |
Y | g.12833818G>T | CA414999149 | USP9Y | c.5152G>T (p.Gly1718Cys) n.5164G>T c.4918G>T (p.Gly1640Cys) c.5167G>T (p.Gly1723Cys) | |
Y | g.12833819G>A | CA414999150 | USP9Y | c.5153G>A (p.Gly1718Asp) n.5165G>A c.4919G>A (p.Gly1640Asp) c.5168G>A (p.Gly1723Asp) | |
Y | g.12833819G>C | CA414999152 | USP9Y | c.5153G>C (p.Gly1718Ala) n.5165G>C c.4919G>C (p.Gly1640Ala) c.5168G>C (p.Gly1723Ala) | |
Y | g.12833819G>T | CA414999154 | USP9Y | c.5153G>T (p.Gly1718Val) n.5165G>T c.4919G>T (p.Gly1640Val) c.5168G>T (p.Gly1723Val) | |
Y | g.12833820C>A | CA519901934 | USP9Y | c.5154C>A (p.Gly1718=) n.5166C>A c.4920C>A (p.Gly1640=) c.5169C>A (p.Gly1723=) | |
Y | g.12833820C>G | CA519901936 | USP9Y | c.5154C>G (p.Gly1718=) n.5166C>G c.4920C>G (p.Gly1640=) c.5169C>G (p.Gly1723=) | |
Y | g.12833820C>T | CA519901937 | USP9Y | c.5154C>T (p.Gly1718=) n.5166C>T c.4920C>T (p.Gly1640=) c.5169C>T (p.Gly1723=) | |
Y | g.12833821T>A | CA414999156 | USP9Y | c.5155T>A (p.Ser1719Thr) n.5167T>A c.4921T>A (p.Ser1641Thr) c.5170T>A (p.Ser1724Thr) | |
Y | g.12833821T>C | CA414999157 | USP9Y | c.5155T>C (p.Ser1719Pro) n.5167T>C c.4921T>C (p.Ser1641Pro) c.5170T>C (p.Ser1724Pro) | |
Y | g.12833821T>G | CA414999159 | USP9Y | c.5155T>G (p.Ser1719Ala) n.5167T>G c.4921T>G (p.Ser1641Ala) c.5170T>G (p.Ser1724Ala) | |
Y | g.12833822C>A | CA414999162 | USP9Y | c.5156C>A (p.Ser1719Tyr) n.5168C>A c.4922C>A (p.Ser1641Tyr) c.5171C>A (p.Ser1724Tyr) | |
Y | g.12833822C>G | CA414999164 | USP9Y | c.5156C>G (p.Ser1719Cys) n.5168C>G c.4922C>G (p.Ser1641Cys) c.5171C>G (p.Ser1724Cys) | |
Y | g.12833822C>T | CA414999161 | USP9Y | c.5156C>T (p.Ser1719Phe) n.5168C>T c.4922C>T (p.Ser1641Phe) c.5171C>T (p.Ser1724Phe) | |
Y | g.12833823C>A | CA519901952 | USP9Y | c.5157C>A (p.Ser1719=) n.5169C>A c.4923C>A (p.Ser1641=) c.5172C>A (p.Ser1724=) | |
Y | g.12833823C>G | CA519901954 | USP9Y | c.5157C>G (p.Ser1719=) n.5169C>G c.4923C>G (p.Ser1641=) c.5172C>G (p.Ser1724=) | |
Y | g.12833823C>T | CA519901956 | USP9Y | c.5157C>T (p.Ser1719=) n.5169C>T c.4923C>T (p.Ser1641=) c.5172C>T (p.Ser1724=) | |
Y | g.12833824T>A | CA414999168 | USP9Y | c.5158T>A (p.Phe1720Ile) n.5170T>A c.4924T>A (p.Phe1642Ile) c.5173T>A (p.Phe1725Ile) | |
Y | g.12833824T>C | CA414999166 | USP9Y | c.5158T>C (p.Phe1720Leu) n.5170T>C c.4924T>C (p.Phe1642Leu) c.5173T>C (p.Phe1725Leu) | |
Y | g.12833824T>G | CA414999169 | USP9Y | c.5158T>G (p.Phe1720Val) n.5170T>G c.4924T>G (p.Phe1642Val) c.5173T>G (p.Phe1725Val) | |
Y | g.12833825T>A | CA414999170 | USP9Y | c.5159T>A (p.Phe1720Tyr) n.5171T>A c.4925T>A (p.Phe1642Tyr) c.5174T>A (p.Phe1725Tyr) | |
Y | g.12833825T>C | CA414999174 | USP9Y | c.5159T>C (p.Phe1720Ser) n.5171T>C c.4925T>C (p.Phe1642Ser) c.5174T>C (p.Phe1725Ser) | |
Y | g.12833825T>G | CA414999172 | USP9Y | c.5159T>G (p.Phe1720Cys) n.5171T>G c.4925T>G (p.Phe1642Cys) c.5174T>G (p.Phe1725Cys) | |
Y | g.12833826T>A | CA414999176 | USP9Y | c.5160T>A (p.Phe1720Leu) n.5172T>A c.4926T>A (p.Phe1642Leu) c.5175T>A (p.Phe1725Leu) | |
Y | g.12833826T>C | CA519901965 | USP9Y | c.5160T>C (p.Phe1720=) n.5172T>C c.4926T>C (p.Phe1642=) c.5175T>C (p.Phe1725=) | |
Y | g.12833826T>G | CA414999177 | USP9Y | c.5160T>G (p.Phe1720Leu) n.5172T>G c.4926T>G (p.Phe1642Leu) c.5175T>G (p.Phe1725Leu) | |
Y | g.12833827G>A | CA414999179 | USP9Y | c.5161G>A (p.Ala1721Thr) n.5173G>A c.4927G>A (p.Ala1643Thr) c.5176G>A (p.Ala1726Thr) | |
Y | g.12833827G>C | CA414999181 | USP9Y | c.5161G>C (p.Ala1721Pro) n.5173G>C c.4927G>C (p.Ala1643Pro) c.5176G>C (p.Ala1726Pro) | |
Y | g.12833827G>T | CA414999182 | USP9Y | c.5161G>T (p.Ala1721Ser) n.5173G>T c.4927G>T (p.Ala1643Ser) c.5176G>T (p.Ala1726Ser) | |
Y | g.12833828C>A | CA414999184 | USP9Y | c.5162C>A (p.Ala1721Asp) n.5174C>A c.4928C>A (p.Ala1643Asp) c.5177C>A (p.Ala1726Asp) | |
Y | g.12833828C>G | CA414999186 | USP9Y | c.5162C>G (p.Ala1721Gly) n.5174C>G c.4928C>G (p.Ala1643Gly) c.5177C>G (p.Ala1726Gly) | |
Y | g.12833828C>T | CA414999188 | USP9Y | c.5162C>T (p.Ala1721Val) n.5174C>T c.4928C>T (p.Ala1643Val) c.5177C>T (p.Ala1726Val) | |
Y | g.12833829T>A | CA519901974 | USP9Y | c.5163T>A (p.Ala1721=) n.5175T>A c.4929T>A (p.Ala1643=) c.5178T>A (p.Ala1726=) | |
Y | g.12833829T>C | CA519901976 | USP9Y | c.5163T>C (p.Ala1721=) n.5175T>C c.4929T>C (p.Ala1643=) c.5178T>C (p.Ala1726=) | |
Y | g.12833829T>G | CA519901978 | USP9Y | c.5163T>G (p.Ala1721=) n.5175T>G c.4929T>G (p.Ala1643=) c.5178T>G (p.Ala1726=) | |
Y | g.12833830G>A | CA414999189 | USP9Y | c.5164G>A (p.Asp1722Asn) n.5176G>A c.4930G>A (p.Asp1644Asn) c.5179G>A (p.Asp1727Asn) | |
Y | g.12833830G>C | CA414999191 | USP9Y | c.5164G>C (p.Asp1722His) n.5176G>C c.4930G>C (p.Asp1644His) c.5179G>C (p.Asp1727His) | |
Y | g.12833830G>T | CA414999192 | USP9Y | c.5164G>T (p.Asp1722Tyr) n.5176G>T c.4930G>T (p.Asp1644Tyr) c.5179G>T (p.Asp1727Tyr) | |
Y | g.12833831A>C | CA414999197 | USP9Y | c.5165A>C (p.Asp1722Ala) n.5177A>C c.4931A>C (p.Asp1644Ala) c.5180A>C (p.Asp1727Ala) | |
Y | g.12833831A>G | CA414999194 | USP9Y | c.5165A>G (p.Asp1722Gly) n.5177A>G c.4931A>G (p.Asp1644Gly) c.5180A>G (p.Asp1727Gly) | |
Y | g.12833831A>T | CA414999196 | USP9Y | c.5165A>T (p.Asp1722Val) n.5177A>T c.4931A>T (p.Asp1644Val) c.5180A>T (p.Asp1727Val) | |
Y | g.12833832T>A | CA414999199 | USP9Y | c.5166T>A (p.Asp1722Glu) n.5178T>A c.4932T>A (p.Asp1644Glu) c.5181T>A (p.Asp1727Glu) | |
Y | g.12833832T>C | CA519901988 | USP9Y | c.5166T>C (p.Asp1722=) n.5178T>C c.4932T>C (p.Asp1644=) c.5181T>C (p.Asp1727=) | |
Y | g.12833832T>G | CA414999201 | USP9Y | c.5166T>G (p.Asp1722Glu) n.5178T>G c.4932T>G (p.Asp1644Glu) c.5181T>G (p.Asp1727Glu) | |
Y | g.12833833C>A | CA414999202 | USP9Y | c.5167C>A (p.Gln1723Lys) n.5179C>A c.4933C>A (p.Gln1645Lys) c.5182C>A (p.Gln1728Lys) | |
Y | g.12833833C>G | CA414999203 | USP9Y | c.5167C>G (p.Gln1723Glu) n.5179C>G c.4933C>G (p.Gln1645Glu) c.5182C>G (p.Gln1728Glu) | |
Y | g.12833833C>T | CA414999205 | USP9Y | c.5167C>T (p.Gln1723Ter) n.5179C>T c.4933C>T (p.Gln1645Ter) c.5182C>T (p.Gln1728Ter) | |
Y | g.12833834A>C | CA414999207 | USP9Y | c.5168A>C (p.Gln1723Pro) n.5180A>C c.4934A>C (p.Gln1645Pro) c.5183A>C (p.Gln1728Pro) | |
Y | g.12833834A>G | CA414999209 | USP9Y | c.5168A>G (p.Gln1723Arg) n.5180A>G c.4934A>G (p.Gln1645Arg) c.5183A>G (p.Gln1728Arg) | |
Y | g.12833834A>T | CA414999210 | USP9Y | c.5168A>T (p.Gln1723Leu) n.5180A>T c.4934A>T (p.Gln1645Leu) c.5183A>T (p.Gln1728Leu) | |
Y | g.12833835G>A | CA519901996 | USP9Y | c.5169G>A (p.Gln1723=) n.5181G>A c.4935G>A (p.Gln1645=) c.5184G>A (p.Gln1728=) | gnomAD v3 gnomAD v4 |
Y | g.12833835G>C | CA414999212 | USP9Y | c.5169G>C (p.Gln1723His) n.5181G>C c.4935G>C (p.Gln1645His) c.5184G>C (p.Gln1728His) | |
Y | g.12833835G>T | CA414999214 | USP9Y | c.5169G>T (p.Gln1723His) n.5181G>T c.4935G>T (p.Gln1645His) c.5184G>T (p.Gln1728His) | |
Y | g.12833836A>C | CA414999219 | USP9Y | c.5170A>C (p.Lys1724Gln) n.5182A>C c.4936A>C (p.Lys1646Gln) c.5185A>C (p.Lys1729Gln) | |
Y | g.12833836A>G | CA414999217 | USP9Y | c.5170A>G (p.Lys1724Glu) n.5182A>G c.4936A>G (p.Lys1646Glu) c.5185A>G (p.Lys1729Glu) | |
Y | g.12833836A>T | CA414999216 | USP9Y | c.5170A>T (p.Lys1724Ter) n.5182A>T c.4936A>T (p.Lys1646Ter) c.5185A>T (p.Lys1729Ter) | |
Y | g.12833837A>C | CA414999220 | USP9Y | c.5171A>C (p.Lys1724Thr) n.5183A>C c.4937A>C (p.Lys1646Thr) c.5186A>C (p.Lys1729Thr) | |
Y | g.12833837A>G | CA414999222 | USP9Y | c.5171A>G (p.Lys1724Arg) n.5183A>G c.4937A>G (p.Lys1646Arg) c.5186A>G (p.Lys1729Arg) | |
Y | g.12833837A>T | CA414999224 | USP9Y | c.5171A>T (p.Lys1724Met) n.5183A>T c.4937A>T (p.Lys1646Met) c.5186A>T (p.Lys1729Met) | |
Y | g.12833838G>A | CA519902006 | USP9Y | c.5172G>A (p.Lys1724=) n.5184G>A c.4938G>A (p.Lys1646=) c.5187G>A (p.Lys1729=) | |
Y | g.12833838G>C | CA414999226 | USP9Y | c.5172G>C (p.Lys1724Asn) n.5184G>C c.4938G>C (p.Lys1646Asn) c.5187G>C (p.Lys1729Asn) | |
Y | g.12833838G>T | CA414999227 | USP9Y | c.5172G>T (p.Lys1724Asn) n.5184G>T c.4938G>T (p.Lys1646Asn) c.5187G>T (p.Lys1729Asn) | |
Y | g.12833839A>C | CA414999230 | USP9Y | c.5173A>C (p.Ile1725Leu) n.5185A>C c.4939A>C (p.Ile1647Leu) c.5188A>C (p.Ile1730Leu) | |
Y | g.12833839A>G | CA414999231 | USP9Y | c.5173A>G (p.Ile1725Val) n.5185A>G c.4939A>G (p.Ile1647Val) c.5188A>G (p.Ile1730Val) | |
Y | g.12833839A>T | CA414999233 | USP9Y | c.5173A>T (p.Ile1725Phe) n.5185A>T c.4939A>T (p.Ile1647Phe) c.5188A>T (p.Ile1730Phe) | |
Y | g.12833840T>A | CA414999234 | USP9Y | c.5174T>A (p.Ile1725Asn) n.5186T>A c.4940T>A (p.Ile1647Asn) c.5189T>A (p.Ile1730Asn) | |
Y | g.12833840T>C | CA414999235 | USP9Y | c.5174T>C (p.Ile1725Thr) n.5186T>C c.4940T>C (p.Ile1647Thr) c.5189T>C (p.Ile1730Thr) | |
Y | g.12833840T>G | CA414999237 | USP9Y | c.5174T>G (p.Ile1725Ser) n.5186T>G c.4940T>G (p.Ile1647Ser) c.5189T>G (p.Ile1730Ser) | |
Y | g.12833841C>A | CA519902021 | USP9Y | c.5175C>A (p.Ile1725=) n.5187C>A c.4941C>A (p.Ile1647=) c.5190C>A (p.Ile1730=) | |
Y | g.12833841C>G | CA414999239 | USP9Y | c.5175C>G (p.Ile1725Met) n.5187C>G c.4941C>G (p.Ile1647Met) c.5190C>G (p.Ile1730Met) | |
Y | g.12833841C>T | CA519902019 | USP9Y | c.5175C>T (p.Ile1725=) n.5187C>T c.4941C>T (p.Ile1647=) c.5190C>T (p.Ile1730=) | |
Y | g.12833842T>A | CA414999243 | USP9Y | c.5176T>A (p.Cys1726Ser) n.5188T>A c.4942T>A (p.Cys1648Ser) c.5191T>A (p.Cys1731Ser) | |
Y | g.12833842T>C | CA414999240 | USP9Y | c.5176T>C (p.Cys1726Arg) n.5188T>C c.4942T>C (p.Cys1648Arg) c.5191T>C (p.Cys1731Arg) | |
Y | g.12833842T>G | CA414999242 | USP9Y | c.5176T>G (p.Cys1726Gly) n.5188T>G c.4942T>G (p.Cys1648Gly) c.5191T>G (p.Cys1731Gly) | |
Y | g.12833843G>A | CA414999244 | USP9Y | c.5177G>A (p.Cys1726Tyr) n.5189G>A c.4943G>A (p.Cys1648Tyr) c.5192G>A (p.Cys1731Tyr) | |
Y | g.12833843G>C | CA414999245 | USP9Y | c.5177G>C (p.Cys1726Ser) n.5189G>C c.4943G>C (p.Cys1648Ser) c.5192G>C (p.Cys1731Ser) | |
Y | g.12833843G>T | CA414999246 | USP9Y | c.5177G>T (p.Cys1726Phe) n.5189G>T c.4943G>T (p.Cys1648Phe) c.5192G>T (p.Cys1731Phe) | |
Y | g.12833844C>A | CA414999247 | USP9Y | c.5178C>A (p.Cys1726Ter) n.5190C>A c.4944C>A (p.Cys1648Ter) c.5193C>A (p.Cys1731Ter) | |
Y | g.12833844C>G | CA414999248 | USP9Y | c.5178C>G (p.Cys1726Trp) n.5190C>G c.4944C>G (p.Cys1648Trp) c.5193C>G (p.Cys1731Trp) | |
Y | g.12833844C>T | CA519902031 | USP9Y | c.5178C>T (p.Cys1726=) n.5190C>T c.4944C>T (p.Cys1648=) c.5193C>T (p.Cys1731=) | |
Y | g.12833845C>A | CA414999249 | USP9Y | c.5179C>A (p.Gln1727Lys) n.5191C>A c.4945C>A (p.Gln1649Lys) c.5194C>A (p.Gln1732Lys) | |
Y | g.12833845C>G | CA414999250 | USP9Y | c.5179C>G (p.Gln1727Glu) n.5191C>G c.4945C>G (p.Gln1649Glu) c.5194C>G (p.Gln1732Glu) | |
Y | g.12833845C>T | CA414999251 | USP9Y | c.5179C>T (p.Gln1727Ter) n.5191C>T c.4945C>T (p.Gln1649Ter) c.5194C>T (p.Gln1732Ter) | |
Y | g.12833846A>C | CA414999252 | USP9Y | c.5180A>C (p.Gln1727Pro) n.5192A>C c.4946A>C (p.Gln1649Pro) c.5195A>C (p.Gln1732Pro) | |
Y | g.12833846A>G | CA414999253 | USP9Y | c.5180A>G (p.Gln1727Arg) n.5192A>G c.4946A>G (p.Gln1649Arg) c.5195A>G (p.Gln1732Arg) | |
Y | g.12833846A>T | CA414999254 | USP9Y | c.5180A>T (p.Gln1727Leu) n.5192A>T c.4946A>T (p.Gln1649Leu) c.5195A>T (p.Gln1732Leu) | |
Y | g.12833847A>C | CA414999255 | USP9Y | c.5181A>C (p.Gln1727His) n.5193A>C c.4947A>C (p.Gln1649His) c.5196A>C (p.Gln1732His) | |
Y | g.12833847A>G | CA519902041 | USP9Y | c.5181A>G (p.Gln1727=) n.5193A>G c.4947A>G (p.Gln1649=) c.5196A>G (p.Gln1732=) | |
Y | g.12833847A>T | CA414999256 | USP9Y | c.5181A>T (p.Gln1727His) n.5193A>T c.4947A>T (p.Gln1649His) c.5196A>T (p.Gln1732His) | |
Y | g.12833848G>A | CA414999257 | USP9Y | c.5182G>A (p.Gly1728Ser) n.5194G>A c.4948G>A (p.Gly1650Ser) c.5197G>A (p.Gly1733Ser) | |
Y | g.12833848G>C | CA414999259 | USP9Y | c.5182G>C (p.Gly1728Arg) n.5194G>C c.4948G>C (p.Gly1650Arg) c.5197G>C (p.Gly1733Arg) | |
Y | g.12833848G>T | CA414999258 | USP9Y | c.5182G>T (p.Gly1728Cys) n.5194G>T c.4948G>T (p.Gly1650Cys) c.5197G>T (p.Gly1733Cys) | |
Y | g.12833849del | CA2579748044 | USP9Y | c.5183del (p.Gly1728AlafsTer15) n.5195del c.4949del (p.Gly1650AlafsTer15) c.5198del (p.Gly1733AlafsTer15) | |
Y | g.12833849G>A | CA414999260 | USP9Y | c.5183G>A (p.Gly1728Asp) n.5195G>A c.4949G>A (p.Gly1650Asp) c.5198G>A (p.Gly1733Asp) | |
Y | g.12833849G>C | CA414999261 | USP9Y | c.5183G>C (p.Gly1728Ala) n.5195G>C c.4949G>C (p.Gly1650Ala) c.5198G>C (p.Gly1733Ala) | |
Y | g.12833849G>T | CA414999262 | USP9Y | c.5183G>T (p.Gly1728Val) n.5195G>T c.4949G>T (p.Gly1650Val) c.5198G>T (p.Gly1733Val) | |
Y | g.12833850C>A | CA519902053 | USP9Y | c.5184C>A (p.Gly1728=) n.5196C>A c.4950C>A (p.Gly1650=) c.5199C>A (p.Gly1733=) | |
Y | g.12833850C>G | CA519902055 | USP9Y | c.5184C>G (p.Gly1728=) n.5196C>G c.4950C>G (p.Gly1650=) c.5199C>G (p.Gly1733=) | |
Y | g.12833850C>T | CA519902056 | USP9Y | c.5184C>T (p.Gly1728=) n.5196C>T c.4950C>T (p.Gly1650=) c.5199C>T (p.Gly1733=) | |
Y | g.12833851T>A | CA414999263 | USP9Y | c.5185T>A (p.Cys1729Ser) n.5197T>A c.4951T>A (p.Cys1651Ser) c.5200T>A (p.Cys1734Ser) | |
Y | g.12833851T>C | CA414999264 | USP9Y | c.5185T>C (p.Cys1729Arg) n.5197T>C c.4951T>C (p.Cys1651Arg) c.5200T>C (p.Cys1734Arg) | |
Y | g.12833851T>G | CA414999265 | USP9Y | c.5185T>G (p.Cys1729Gly) n.5197T>G c.4951T>G (p.Cys1651Gly) c.5200T>G (p.Cys1734Gly) | |
Y | g.12833852G>A | CA414999266 | USP9Y | c.5186G>A (p.Cys1729Tyr) n.5198G>A c.4952G>A (p.Cys1651Tyr) c.5201G>A (p.Cys1734Tyr) | |
Y | g.12833852G>C | CA414999267 | USP9Y | c.5186G>C (p.Cys1729Ser) n.5198G>C c.4952G>C (p.Cys1651Ser) c.5201G>C (p.Cys1734Ser) | |
Y | g.12833852G>T | CA414999268 | USP9Y | c.5186G>T (p.Cys1729Phe) n.5198G>T c.4952G>T (p.Cys1651Phe) c.5201G>T (p.Cys1734Phe) | |
Y | g.12833853C>A | CA414999269 | USP9Y | c.5187C>A (p.Cys1729Ter) n.5199C>A c.4953C>A (p.Cys1651Ter) c.5202C>A (p.Cys1734Ter) | |
Y | g.12833853C>G | CA414999270 | USP9Y | c.5187C>G (p.Cys1729Trp) n.5199C>G c.4953C>G (p.Cys1651Trp) c.5202C>G (p.Cys1734Trp) | |
Y | g.12833853C>T | CA519902067 | USP9Y | c.5187C>T (p.Cys1729=) n.5199C>T c.4953C>T (p.Cys1651=) c.5202C>T (p.Cys1734=) | |
Y | g.12833855del | CA2824886979 | USP9Y | c.5189del (p.Pro1730HisfsTer13) n.5201del c.4955del (p.Pro1652HisfsTer13) c.5204del (p.Pro1735HisfsTer13) | |
Y | g.12833854C>A | CA414999273 | USP9Y | c.5188C>A (p.Pro1730Thr) n.5200C>A c.4954C>A (p.Pro1652Thr) c.5203C>A (p.Pro1735Thr) | |
Y | g.12833854C>G | CA414999271 | USP9Y | c.5188C>G (p.Pro1730Ala) n.5200C>G c.4954C>G (p.Pro1652Ala) c.5203C>G (p.Pro1735Ala) | |
Y | g.12833854C>T | CA414999272 | USP9Y | c.5188C>T (p.Pro1730Ser) n.5200C>T c.4954C>T (p.Pro1652Ser) c.5203C>T (p.Pro1735Ser) | gnomAD v3 gnomAD v4 |
Y | g.12833855C>A | CA414999274 | USP9Y | c.5189C>A (p.Pro1730Gln) n.5201C>A c.4955C>A (p.Pro1652Gln) c.5204C>A (p.Pro1735Gln) | |
Y | g.12833855C>G | CA414999275 | USP9Y | c.5189C>G (p.Pro1730Arg) n.5201C>G c.4955C>G (p.Pro1652Arg) c.5204C>G (p.Pro1735Arg) | |
Y | g.12833855C>T | CA414999276 | USP9Y | c.5189C>T (p.Pro1730Leu) n.5201C>T c.4955C>T (p.Pro1652Leu) c.5204C>T (p.Pro1735Leu) | |
Y | g.12833856A>C | CA519902075 | USP9Y | c.5190A>C (p.Pro1730=) n.5202A>C c.4956A>C (p.Pro1652=) c.5205A>C (p.Pro1735=) | |
Y | g.12833856A>G | CA519902076 | USP9Y | c.5190A>G (p.Pro1730=) n.5202A>G c.4956A>G (p.Pro1652=) c.5205A>G (p.Pro1735=) | |
Y | g.12833856A>T | CA519902079 | USP9Y | c.5190A>T (p.Pro1730=) n.5202A>T c.4956A>T (p.Pro1652=) c.5205A>T (p.Pro1735=) | |
Y | g.12833857C>A | CA414999277 | USP9Y | c.5191C>A (p.His1731Asn) n.5203C>A c.4957C>A (p.His1653Asn) c.5206C>A (p.His1736Asn) | |
Y | g.12833857C>G | CA414999278 | USP9Y | c.5191C>G (p.His1731Asp) n.5203C>G c.4957C>G (p.His1653Asp) c.5206C>G (p.His1736Asp) | |
Y | g.12833857C>T | CA414999279 | USP9Y | c.5191C>T (p.His1731Tyr) n.5203C>T c.4957C>T (p.His1653Tyr) c.5206C>T (p.His1736Tyr) | |
Y | g.12833858A>C | CA414999280 | USP9Y | c.5192A>C (p.His1731Pro) n.5204A>C c.4958A>C (p.His1653Pro) c.5207A>C (p.His1736Pro) | |
Y | g.12833858A>G | CA414999281 | USP9Y | c.5192A>G (p.His1731Arg) n.5204A>G c.4958A>G (p.His1653Arg) c.5207A>G (p.His1736Arg) | |
Y | g.12833858A>T | CA414999282 | USP9Y | c.5192A>T (p.His1731Leu) n.5204A>T c.4958A>T (p.His1653Leu) c.5207A>T (p.His1736Leu) | |
Y | g.12833859T>A | CA414999283 | USP9Y | c.5193T>A (p.His1731Gln) n.5205T>A c.4959T>A (p.His1653Gln) c.5208T>A (p.His1736Gln) | |
Y | g.12833859T>C | CA519902088 | USP9Y | c.5193T>C (p.His1731=) n.5205T>C c.4959T>C (p.His1653=) c.5208T>C (p.His1736=) | |
Y | g.12833859T>G | CA414999284 | USP9Y | c.5193T>G (p.His1731Gln) n.5205T>G c.4959T>G (p.His1653Gln) c.5208T>G (p.His1736Gln) | |
Y | g.12833860A>C | CA519902092 | USP9Y | c.5194A>C (p.Arg1732=) n.5206A>C c.4960A>C (p.Arg1654=) c.5209A>C (p.Arg1737=) | |
Y | g.12833860A>G | CA414999285 | USP9Y | c.5194A>G (p.Arg1732Gly) n.5206A>G c.4960A>G (p.Arg1654Gly) c.5209A>G (p.Arg1737Gly) | |
Y | g.12833860A>T | CA414999286 | USP9Y | c.5194A>T (p.Arg1732Trp) n.5206A>T c.4960A>T (p.Arg1654Trp) c.5209A>T (p.Arg1737Trp) | |
Y | g.12833861G>A | CA414999287 | USP9Y | c.5195G>A (p.Arg1732Lys) n.5207G>A c.4961G>A (p.Arg1654Lys) c.5210G>A (p.Arg1737Lys) | |
Y | g.12833861G>C | CA414999288 | USP9Y | c.5195G>C (p.Arg1732Thr) n.5207G>C c.4961G>C (p.Arg1654Thr) c.5210G>C (p.Arg1737Thr) | |
Y | g.12833861G>T | CA414999289 | USP9Y | c.5195G>T (p.Arg1732Met) n.5207G>T c.4961G>T (p.Arg1654Met) c.5210G>T (p.Arg1737Met) | |
Y | g.12833862G>A | CA414999290 | USP9Y | c.5195+1G>A (n.5195+1G>A) n.5207+1G>A c.4961+1G>A (n.4961+1G>A) c.5210+1G>A (n.5210+1G>A) | |
Y | g.12833862G>C | CA414999291 | USP9Y | c.5195+1G>C (n.5195+1G>C) n.5207+1G>C c.4961+1G>C (n.4961+1G>C) c.5210+1G>C (n.5210+1G>C) | |
Y | g.12833862G>T | CA414999292 | USP9Y | c.5195+1G>T (n.5195+1G>T) n.5207+1G>T c.4961+1G>T (n.4961+1G>T) c.5210+1G>T (n.5210+1G>T) | |
Y | g.12833863T>A | CA414999293 | USP9Y | c.5195+2T>A (n.5195+2T>A) n.5207+2T>A c.4961+2T>A (n.4961+2T>A) c.5210+2T>A (n.5210+2T>A) | |
Y | g.12833863T>C | CA414999294 | USP9Y | c.5195+2T>C (n.5195+2T>C) n.5207+2T>C c.4961+2T>C (n.4961+2T>C) c.5210+2T>C (n.5210+2T>C) | |
Y | g.12833863T>G | CA414999295 | USP9Y | c.5195+2T>G (n.5195+2T>G) n.5207+2T>G c.4961+2T>G (n.4961+2T>G) c.5210+2T>G (n.5210+2T>G) | |
Y | g.12833864A>G | CA2695197206 | USP9Y | c.5195+3A>G (n.5195+3A>G) n.5207+3A>G c.4961+3A>G (n.4961+3A>G) c.5210+3A>G (n.5210+3A>G) | ClinVar |
Y | g.12833865_12833869delinsAGTGC | CA2470560459 | USP9Y | c.5195+4_5195+8delinsAGTGC (n.5195+4_5195+8delinsAGTGC) n.5207+4_5207+8delinsAGTGC c.4961+4_4961+8delinsAGTGC (n.4961+4_4961+8delinsAGTGC) c.5210+4_5210+8delinsAGTGC (n.5210+4_5210+8delinsAGTGC) |