Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.12810648T>A | CA2580610649 | USP9Y | c.4093-24T>A (n.4093-24T>A) n.4105-24T>A c.3859-24T>A (n.3859-24T>A) c.4108-24T>A (n.4108-24T>A) | |
Y | g.12810648T>C | CA10573297 | USP9Y | c.4093-24T>C (n.4093-24T>C) n.4105-24T>C c.3859-24T>C (n.3859-24T>C) c.4108-24T>C (n.4108-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12810648T>G | CA2580610650 | USP9Y | c.4093-24T>G (n.4093-24T>G) n.4105-24T>G c.3859-24T>G (n.3859-24T>G) c.4108-24T>G (n.4108-24T>G) | |
Y | g.12810648T= | CA2470559194 | USP9Y | c.4093-24T= (n.4093-24T=) n.4105-24T= c.3859-24T= (n.3859-24T=) c.4108-24T= (n.4108-24T=) | |
Y | g.12810660_12810664del | CA2579747939 | USP9Y | c.4093-12_4093-8del (n.4093-12_4093-8del) n.4105-12_4105-8del c.3859-12_3859-8del (n.3859-12_3859-8del) c.4108-12_4108-8del (n.4108-12_4108-8del) | |
Y | g.12810656T= | CA2470559195 | USP9Y | c.4093-16T= (n.4093-16T=) n.4105-16T= c.3859-16T= (n.3859-16T=) c.4108-16T= (n.4108-16T=) | |
Y | g.12810658dup | CA10573298 | USP9Y | c.4093-14dup (n.4093-14dup) n.4105-14dup c.3859-14dup (n.3859-14dup) c.4108-14dup (n.4108-14dup) | dbSNP ExAC gnomAD v2 |
Y | g.12810663A>C | CA1139263945 | USP9Y | c.4093-9A>C (n.4093-9A>C) n.4105-9A>C c.3859-9A>C (n.3859-9A>C) c.4108-9A>C (n.4108-9A>C) | gnomAD v3 gnomAD v4 |
Y | g.12810669C>T | CA1139263946 | USP9Y | c.4093-3C>T (n.4093-3C>T) n.4105-3C>T c.3859-3C>T (n.3859-3C>T) c.4108-3C>T (n.4108-3C>T) | gnomAD v3 gnomAD v4 |
Y | g.12810670A>C | CA414989141 | USP9Y | c.4093-2A>C (n.4093-2A>C) n.4105-2A>C c.3859-2A>C (n.3859-2A>C) c.4108-2A>C (n.4108-2A>C) | |
Y | g.12810670A>G | CA414989144 | USP9Y | c.4093-2A>G (n.4093-2A>G) n.4105-2A>G c.3859-2A>G (n.3859-2A>G) c.4108-2A>G (n.4108-2A>G) | |
Y | g.12810670A>T | CA414989145 | USP9Y | c.4093-2A>T (n.4093-2A>T) n.4105-2A>T c.3859-2A>T (n.3859-2A>T) c.4108-2A>T (n.4108-2A>T) | |
Y | g.12810671G>A | CA414989147 | USP9Y | c.4093-1G>A (n.4093-1G>A) n.4105-1G>A c.3859-1G>A (n.3859-1G>A) c.4108-1G>A (n.4108-1G>A) | |
Y | g.12810671G>C | CA414989148 | USP9Y | c.4093-1G>C (n.4093-1G>C) n.4105-1G>C c.3859-1G>C (n.3859-1G>C) c.4108-1G>C (n.4108-1G>C) | |
Y | g.12810671G>T | CA414989149 | USP9Y | c.4093-1G>T (n.4093-1G>T) n.4105-1G>T c.3859-1G>T (n.3859-1G>T) c.4108-1G>T (n.4108-1G>T) | |
Y | g.12810672A>C | CA414989151 | USP9Y | c.4093A>C (p.Ser1365Arg) n.4105A>C c.3859A>C (p.Ser1287Arg) c.4108A>C (p.Ser1370Arg) | |
Y | g.12810672A>G | CA414989152 | USP9Y | c.4093A>G (p.Ser1365Gly) n.4105A>G c.3859A>G (p.Ser1287Gly) c.4108A>G (p.Ser1370Gly) | |
Y | g.12810672A>T | CA414989150 | USP9Y | c.4093A>T (p.Ser1365Cys) n.4105A>T c.3859A>T (p.Ser1287Cys) c.4108A>T (p.Ser1370Cys) | |
Y | g.12810673G>A | CA414989155 | USP9Y | c.4094G>A (p.Ser1365Asn) n.4106G>A c.3860G>A (p.Ser1287Asn) c.4109G>A (p.Ser1370Asn) | |
Y | g.12810673G>C | CA414989158 | USP9Y | c.4094G>C (p.Ser1365Thr) n.4106G>C c.3860G>C (p.Ser1287Thr) c.4109G>C (p.Ser1370Thr) | |
Y | g.12810673G>T | CA414989159 | USP9Y | c.4094G>T (p.Ser1365Ile) n.4106G>T c.3860G>T (p.Ser1287Ile) c.4109G>T (p.Ser1370Ile) | |
Y | g.12810674C>A | CA414989161 | USP9Y | c.4095C>A (p.Ser1365Arg) n.4107C>A c.3861C>A (p.Ser1287Arg) c.4110C>A (p.Ser1370Arg) | |
Y | g.12810674C>G | CA414989163 | USP9Y | c.4095C>G (p.Ser1365Arg) n.4107C>G c.3861C>G (p.Ser1287Arg) c.4110C>G (p.Ser1370Arg) | |
Y | g.12810674C>T | CA519890699 | USP9Y | c.4095C>T (p.Ser1365=) n.4107C>T c.3861C>T (p.Ser1287=) c.4110C>T (p.Ser1370=) | |
Y | g.12810675A>C | CA414989165 | USP9Y | c.4096A>C (p.Thr1366Pro) n.4108A>C c.3862A>C (p.Thr1288Pro) c.4111A>C (p.Thr1371Pro) | |
Y | g.12810675A>G | CA414989168 | USP9Y | c.4096A>G (p.Thr1366Ala) n.4108A>G c.3862A>G (p.Thr1288Ala) c.4111A>G (p.Thr1371Ala) | |
Y | g.12810675A>T | CA414989170 | USP9Y | c.4096A>T (p.Thr1366Ser) n.4108A>T c.3862A>T (p.Thr1288Ser) c.4111A>T (p.Thr1371Ser) | |
Y | g.12810676C>A | CA414989173 | USP9Y | c.4097C>A (p.Thr1366Lys) n.4109C>A c.3863C>A (p.Thr1288Lys) c.4112C>A (p.Thr1371Lys) | |
Y | g.12810676C>G | CA414989175 | USP9Y | c.4097C>G (p.Thr1366Arg) n.4109C>G c.3863C>G (p.Thr1288Arg) c.4112C>G (p.Thr1371Arg) | |
Y | g.12810676C>T | CA414989177 | USP9Y | c.4097C>T (p.Thr1366Ile) n.4109C>T c.3863C>T (p.Thr1288Ile) c.4112C>T (p.Thr1371Ile) | |
Y | g.12810677A>C | CA519890709 | USP9Y | c.4098A>C (p.Thr1366=) n.4110A>C c.3864A>C (p.Thr1288=) c.4113A>C (p.Thr1371=) | |
Y | g.12810677A>G | CA519890711 | USP9Y | c.4098A>G (p.Thr1366=) n.4110A>G c.3864A>G (p.Thr1288=) c.4113A>G (p.Thr1371=) | |
Y | g.12810677A>T | CA519890714 | USP9Y | c.4098A>T (p.Thr1366=) n.4110A>T c.3864A>T (p.Thr1288=) c.4113A>T (p.Thr1371=) | |
Y | g.12810678G>A | CA414989180 | USP9Y | c.4099G>A (p.Ala1367Thr) n.4111G>A c.3865G>A (p.Ala1289Thr) c.4114G>A (p.Ala1372Thr) | gnomAD v3 gnomAD v4 |
Y | g.12810678G>C | CA414989185 | USP9Y | c.4099G>C (p.Ala1367Pro) n.4111G>C c.3865G>C (p.Ala1289Pro) c.4114G>C (p.Ala1372Pro) | |
Y | g.12810678G>T | CA414989183 | USP9Y | c.4099G>T (p.Ala1367Ser) n.4111G>T c.3865G>T (p.Ala1289Ser) c.4114G>T (p.Ala1372Ser) | |
Y | g.12810679C>A | CA414989189 | USP9Y | c.4100C>A (p.Ala1367Glu) n.4112C>A c.3866C>A (p.Ala1289Glu) c.4115C>A (p.Ala1372Glu) | |
Y | g.12810679C>G | CA414989191 | USP9Y | c.4100C>G (p.Ala1367Gly) n.4112C>G c.3866C>G (p.Ala1289Gly) c.4115C>G (p.Ala1372Gly) | |
Y | g.12810679C>T | CA414989195 | USP9Y | c.4100C>T (p.Ala1367Val) n.4112C>T c.3866C>T (p.Ala1289Val) c.4115C>T (p.Ala1372Val) | |
Y | g.12810680A>C | CA519890742 | USP9Y | c.4101A>C (p.Ala1367=) n.4113A>C c.3867A>C (p.Ala1289=) c.4116A>C (p.Ala1372=) | |
Y | g.12810680A>G | CA519890744 | USP9Y | c.4101A>G (p.Ala1367=) n.4113A>G c.3867A>G (p.Ala1289=) c.4116A>G (p.Ala1372=) | |
Y | g.12810680A>T | CA519890751 | USP9Y | c.4101A>T (p.Ala1367=) n.4113A>T c.3867A>T (p.Ala1289=) c.4116A>T (p.Ala1372=) | |
Y | g.12810681A>C | CA519890758 | USP9Y | c.4102A>C (p.Arg1368=) n.4114A>C c.3868A>C (p.Arg1290=) c.4117A>C (p.Arg1373=) | |
Y | g.12810681A>G | CA414989197 | USP9Y | c.4102A>G (p.Arg1368Gly) n.4114A>G c.3868A>G (p.Arg1290Gly) c.4117A>G (p.Arg1373Gly) | |
Y | g.12810681A>T | CA414989200 | USP9Y | c.4102A>T (p.Arg1368Ter) n.4114A>T c.3868A>T (p.Arg1290Ter) c.4117A>T (p.Arg1373Ter) | |
Y | g.12810682G>A | CA414989204 | USP9Y | c.4103G>A (p.Arg1368Lys) n.4115G>A c.3869G>A (p.Arg1290Lys) c.4118G>A (p.Arg1373Lys) | |
Y | g.12810682G>C | CA414989205 | USP9Y | c.4103G>C (p.Arg1368Thr) n.4115G>C c.3869G>C (p.Arg1290Thr) c.4118G>C (p.Arg1373Thr) | |
Y | g.12810682G>T | CA414989206 | USP9Y | c.4103G>T (p.Arg1368Ile) n.4115G>T c.3869G>T (p.Arg1290Ile) c.4118G>T (p.Arg1373Ile) | |
Y | g.12810683A>C | CA414989207 | USP9Y | c.4104A>C (p.Arg1368Ser) n.4116A>C c.3870A>C (p.Arg1290Ser) c.4119A>C (p.Arg1373Ser) | |
Y | g.12810683A>G | CA519890785 | USP9Y | c.4104A>G (p.Arg1368=) n.4116A>G c.3870A>G (p.Arg1290=) c.4119A>G (p.Arg1373=) |