Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.12812914A>C | CA414992080 | USP9Y | c.4471A>C (p.Ile1491Leu) n.4483A>C c.4237A>C (p.Ile1413Leu) c.4486A>C (p.Ile1496Leu) | |
Y | g.12812914A>G | CA414992082 | USP9Y | c.4471A>G (p.Ile1491Val) n.4483A>G c.4237A>G (p.Ile1413Val) c.4486A>G (p.Ile1496Val) | |
Y | g.12812914A>T | CA414992083 | USP9Y | c.4471A>T (p.Ile1491Phe) n.4483A>T c.4237A>T (p.Ile1413Phe) c.4486A>T (p.Ile1496Phe) | |
Y | g.12812915T>A | CA10573327 | USP9Y | c.4472T>A (p.Ile1491Asn) n.4484T>A c.4238T>A (p.Ile1413Asn) c.4487T>A (p.Ile1496Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12812915T>C | CA414992089 | USP9Y | c.4472T>C (p.Ile1491Thr) n.4484T>C c.4238T>C (p.Ile1413Thr) c.4487T>C (p.Ile1496Thr) | |
Y | g.12812915T>G | CA414992092 | USP9Y | c.4472T>G (p.Ile1491Ser) n.4484T>G c.4238T>G (p.Ile1413Ser) c.4487T>G (p.Ile1496Ser) | |
Y | g.12812915T= | CA2470559344 | USP9Y | c.4472T= (p.Ile1491=) n.4484T= c.4238T= (p.Ile1413=) c.4487T= (p.Ile1496=) | |
Y | g.12812916T>A | CA519895671 | USP9Y | c.4473T>A (p.Ile1491=) n.4485T>A c.4239T>A (p.Ile1413=) c.4488T>A (p.Ile1496=) | |
Y | g.12812916T>C | CA519895674 | USP9Y | c.4473T>C (p.Ile1491=) n.4485T>C c.4239T>C (p.Ile1413=) c.4488T>C (p.Ile1496=) | |
Y | g.12812916T>G | CA414992095 | USP9Y | c.4473T>G (p.Ile1491Met) n.4485T>G c.4239T>G (p.Ile1413Met) c.4488T>G (p.Ile1496Met) | |
Y | g.12812917C>A | CA414992112 | USP9Y | c.4474C>A (p.Pro1492Thr) n.4486C>A c.4240C>A (p.Pro1414Thr) c.4489C>A (p.Pro1497Thr) | |
Y | g.12812917C>G | CA414992111 | USP9Y | c.4474C>G (p.Pro1492Ala) n.4486C>G c.4240C>G (p.Pro1414Ala) c.4489C>G (p.Pro1497Ala) | |
Y | g.12812917C>T | CA414992099 | USP9Y | c.4474C>T (p.Pro1492Ser) n.4486C>T c.4240C>T (p.Pro1414Ser) c.4489C>T (p.Pro1497Ser) | |
Y | g.12812918C>A | CA414992117 | USP9Y | c.4475C>A (p.Pro1492Gln) n.4487C>A c.4241C>A (p.Pro1414Gln) c.4490C>A (p.Pro1497Gln) | |
Y | g.12812918C>G | CA414992119 | USP9Y | c.4475C>G (p.Pro1492Arg) n.4487C>G c.4241C>G (p.Pro1414Arg) c.4490C>G (p.Pro1497Arg) | |
Y | g.12812918C>T | CA414992124 | USP9Y | c.4475C>T (p.Pro1492Leu) n.4487C>T c.4241C>T (p.Pro1414Leu) c.4490C>T (p.Pro1497Leu) | |
Y | g.12812919A>C | CA519895694 | USP9Y | c.4476A>C (p.Pro1492=) n.4488A>C c.4242A>C (p.Pro1414=) c.4491A>C (p.Pro1497=) | |
Y | g.12812919A>G | CA519895691 | USP9Y | c.4476A>G (p.Pro1492=) n.4488A>G c.4242A>G (p.Pro1414=) c.4491A>G (p.Pro1497=) | |
Y | g.12812919A>T | CA519895689 | USP9Y | c.4476A>T (p.Pro1492=) n.4488A>T c.4242A>T (p.Pro1414=) c.4491A>T (p.Pro1497=) | |
Y | g.12812920G>A | CA414992127 | USP9Y | c.4477G>A (p.Val1493Ile) n.4489G>A c.4243G>A (p.Val1415Ile) c.4492G>A (p.Val1498Ile) | |
Y | g.12812920G>C | CA414992132 | USP9Y | c.4477G>C (p.Val1493Leu) n.4489G>C c.4243G>C (p.Val1415Leu) c.4492G>C (p.Val1498Leu) | |
Y | g.12812920G>T | CA414992139 | USP9Y | c.4477G>T (p.Val1493Phe) n.4489G>T c.4243G>T (p.Val1415Phe) c.4492G>T (p.Val1498Phe) | |
Y | g.12812921T>A | CA414992143 | USP9Y | c.4478T>A (p.Val1493Asp) n.4490T>A c.4244T>A (p.Val1415Asp) c.4493T>A (p.Val1498Asp) | |
Y | g.12812921T>C | CA414992150 | USP9Y | c.4478T>C (p.Val1493Ala) n.4490T>C c.4244T>C (p.Val1415Ala) c.4493T>C (p.Val1498Ala) | |
Y | g.12812921T>G | CA414992152 | USP9Y | c.4478T>G (p.Val1493Gly) n.4490T>G c.4244T>G (p.Val1415Gly) c.4493T>G (p.Val1498Gly) | |
Y | g.12812922C>A | CA519895704 | USP9Y | c.4479C>A (p.Val1493=) n.4491C>A c.4245C>A (p.Val1415=) c.4494C>A (p.Val1498=) | |
Y | g.12812922C>G | CA519895706 | USP9Y | c.4479C>G (p.Val1493=) n.4491C>G c.4245C>G (p.Val1415=) c.4494C>G (p.Val1498=) | |
Y | g.12812922C>T | CA519895710 | USP9Y | c.4479C>T (p.Val1493=) n.4491C>T c.4245C>T (p.Val1415=) c.4494C>T (p.Val1498=) | |
Y | g.12812923T>A | CA414992155 | USP9Y | c.4480T>A (p.Cys1494Ser) n.4492T>A c.4246T>A (p.Cys1416Ser) c.4495T>A (p.Cys1499Ser) | |
Y | g.12812923T>C | CA414992156 | USP9Y | c.4480T>C (p.Cys1494Arg) n.4492T>C c.4246T>C (p.Cys1416Arg) c.4495T>C (p.Cys1499Arg) | |
Y | g.12812923T>G | CA414992158 | USP9Y | c.4480T>G (p.Cys1494Gly) n.4492T>G c.4246T>G (p.Cys1416Gly) c.4495T>G (p.Cys1499Gly) | |
Y | g.12812924G>A | CA414992170 | USP9Y | c.4481G>A (p.Cys1494Tyr) n.4493G>A c.4247G>A (p.Cys1416Tyr) c.4496G>A (p.Cys1499Tyr) | |
Y | g.12812924G>C | CA414992168 | USP9Y | c.4481G>C (p.Cys1494Ser) n.4493G>C c.4247G>C (p.Cys1416Ser) c.4496G>C (p.Cys1499Ser) | |
Y | g.12812924G>T | CA414992165 | USP9Y | c.4481G>T (p.Cys1494Phe) n.4493G>T c.4247G>T (p.Cys1416Phe) c.4496G>T (p.Cys1499Phe) | |
Y | g.12812925T>A | CA414992175 | USP9Y | c.4482T>A (p.Cys1494Ter) n.4494T>A c.4248T>A (p.Cys1416Ter) c.4497T>A (p.Cys1499Ter) | |
Y | g.12812925T>C | CA519895729 | USP9Y | c.4482T>C (p.Cys1494=) n.4494T>C c.4248T>C (p.Cys1416=) c.4497T>C (p.Cys1499=) | |
Y | g.12812925T>G | CA414992177 | USP9Y | c.4482T>G (p.Cys1494Trp) n.4494T>G c.4248T>G (p.Cys1416Trp) c.4497T>G (p.Cys1499Trp) | |
Y | g.12812926A>C | CA414992180 | USP9Y | c.4483A>C (p.Ser1495Arg) n.4495A>C c.4249A>C (p.Ser1417Arg) c.4498A>C (p.Ser1500Arg) | |
Y | g.12812926A>G | CA414992182 | USP9Y | c.4483A>G (p.Ser1495Gly) n.4495A>G c.4249A>G (p.Ser1417Gly) c.4498A>G (p.Ser1500Gly) | |
Y | g.12812926A>T | CA414992184 | USP9Y | c.4483A>T (p.Ser1495Cys) n.4495A>T c.4249A>T (p.Ser1417Cys) c.4498A>T (p.Ser1500Cys) | |
Y | g.12812927G>A | CA414992186 | USP9Y | c.4484G>A (p.Ser1495Asn) n.4496G>A c.4250G>A (p.Ser1417Asn) c.4499G>A (p.Ser1500Asn) | |
Y | g.12812927G>C | CA414992189 | USP9Y | c.4484G>C (p.Ser1495Thr) n.4496G>C c.4250G>C (p.Ser1417Thr) c.4499G>C (p.Ser1500Thr) | |
Y | g.12812927G>T | CA414992191 | USP9Y | c.4484G>T (p.Ser1495Ile) n.4496G>T c.4250G>T (p.Ser1417Ile) c.4499G>T (p.Ser1500Ile) | |
Y | g.12812928T>A | CA414992198 | USP9Y | c.4485T>A (p.Ser1495Arg) n.4497T>A c.4251T>A (p.Ser1417Arg) c.4500T>A (p.Ser1500Arg) | |
Y | g.12812928T>C | CA519895750 | USP9Y | c.4485T>C (p.Ser1495=) n.4497T>C c.4251T>C (p.Ser1417=) c.4500T>C (p.Ser1500=) | |
Y | g.12812928T>G | CA414992201 | USP9Y | c.4485T>G (p.Ser1495Arg) n.4497T>G c.4251T>G (p.Ser1417Arg) c.4500T>G (p.Ser1500Arg) | |
Y | g.12812929T>A | CA414992204 | USP9Y | c.4486T>A (p.Ser1496Thr) n.4498T>A c.4252T>A (p.Ser1418Thr) c.4501T>A (p.Ser1501Thr) | |
Y | g.12812929T>C | CA414992207 | USP9Y | c.4486T>C (p.Ser1496Pro) n.4498T>C c.4252T>C (p.Ser1418Pro) c.4501T>C (p.Ser1501Pro) | |
Y | g.12812929T>G | CA414992211 | USP9Y | c.4486T>G (p.Ser1496Ala) n.4498T>G c.4252T>G (p.Ser1418Ala) c.4501T>G (p.Ser1501Ala) | |
Y | g.12812930C>A | CA414992221 | USP9Y | c.4487C>A (p.Ser1496Ter) n.4499C>A c.4253C>A (p.Ser1418Ter) c.4502C>A (p.Ser1501Ter) | |
Y | g.12812930C>G | CA414992214 | USP9Y | c.4487C>G (p.Ser1496Ter) n.4499C>G c.4253C>G (p.Ser1418Ter) c.4502C>G (p.Ser1501Ter) | |
Y | g.12812930C>T | CA414992218 | USP9Y | c.4487C>T (p.Ser1496Leu) n.4499C>T c.4253C>T (p.Ser1418Leu) c.4502C>T (p.Ser1501Leu) | |
Y | g.12812931A= | CA2470559345 | USP9Y | c.4488A= (p.Ser1496=) n.4500A= c.4254A= (p.Ser1418=) c.4503A= (p.Ser1501=) | |
Y | g.12812931A>C | CA519895770 | USP9Y | c.4488A>C (p.Ser1496=) n.4500A>C c.4254A>C (p.Ser1418=) c.4503A>C (p.Ser1501=) | |
Y | g.12812931A>G | CA519895771 | USP9Y | c.4488A>G (p.Ser1496=) n.4500A>G c.4254A>G (p.Ser1418=) c.4503A>G (p.Ser1501=) | |
Y | g.12812931A>T | CA10573328 | USP9Y | c.4488A>T (p.Ser1496=) n.4500A>T c.4254A>T (p.Ser1418=) c.4503A>T (p.Ser1501=) | dbSNP ExAC gnomAD v2 |
Y | g.12812932C>A | CA414992226 | USP9Y | c.4489C>A (p.Pro1497Thr) n.4501C>A c.4255C>A (p.Pro1419Thr) c.4504C>A (p.Pro1502Thr) | |
Y | g.12812932C>G | CA414992228 | USP9Y | c.4489C>G (p.Pro1497Ala) n.4501C>G c.4255C>G (p.Pro1419Ala) c.4504C>G (p.Pro1502Ala) | |
Y | g.12812932C>T | CA414992232 | USP9Y | c.4489C>T (p.Pro1497Ser) n.4501C>T c.4255C>T (p.Pro1419Ser) c.4504C>T (p.Pro1502Ser) | |
Y | g.12812933C>A | CA414992233 | USP9Y | c.4490C>A (p.Pro1497His) n.4502C>A c.4256C>A (p.Pro1419His) c.4505C>A (p.Pro1502His) | |
Y | g.12812933C>G | CA414992234 | USP9Y | c.4490C>G (p.Pro1497Arg) n.4502C>G c.4256C>G (p.Pro1419Arg) c.4505C>G (p.Pro1502Arg) | |
Y | g.12812933C>T | CA414992235 | USP9Y | c.4490C>T (p.Pro1497Leu) n.4502C>T c.4256C>T (p.Pro1419Leu) c.4505C>T (p.Pro1502Leu) | |
Y | g.12812934C>A | CA519895781 | USP9Y | c.4491C>A (p.Pro1497=) n.4503C>A c.4257C>A (p.Pro1419=) c.4506C>A (p.Pro1502=) | |
Y | g.12812934C= | CA2470559346 | USP9Y | c.4491C= (p.Pro1497=) n.4503C= c.4257C= (p.Pro1419=) c.4506C= (p.Pro1502=) | |
Y | g.12812934C>G | CA519895782 | USP9Y | c.4491C>G (p.Pro1497=) n.4503C>G c.4257C>G (p.Pro1419=) c.4506C>G (p.Pro1502=) | |
Y | g.12812934C>T | CA10573329 | USP9Y | c.4491C>T (p.Pro1497=) n.4503C>T c.4257C>T (p.Pro1419=) c.4506C>T (p.Pro1502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12812935G>A | CA10573330 | USP9Y | c.4492G>A (p.Val1498Ile) n.4504G>A c.4258G>A (p.Val1420Ile) c.4507G>A (p.Val1503Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12812935G>C | CA414992240 | USP9Y | c.4492G>C (p.Val1498Leu) n.4504G>C c.4258G>C (p.Val1420Leu) c.4507G>C (p.Val1503Leu) | |
Y | g.12812935G= | CA2470559347 | USP9Y | c.4492G= (p.Val1498=) n.4504G= c.4258G= (p.Val1420=) c.4507G= (p.Val1503=) | |
Y | g.12812935G>T | CA414992243 | USP9Y | c.4492G>T (p.Val1498Phe) n.4504G>T c.4258G>T (p.Val1420Phe) c.4507G>T (p.Val1503Phe) | |
Y | g.12812936T>A | CA414992246 | USP9Y | c.4493T>A (p.Val1498Asp) n.4505T>A c.4259T>A (p.Val1420Asp) c.4508T>A (p.Val1503Asp) | |
Y | g.12812936T>C | CA414992253 | USP9Y | c.4493T>C (p.Val1498Ala) n.4505T>C c.4259T>C (p.Val1420Ala) c.4508T>C (p.Val1503Ala) | |
Y | g.12812936T>G | CA414992251 | USP9Y | c.4493T>G (p.Val1498Gly) n.4505T>G c.4259T>G (p.Val1420Gly) c.4508T>G (p.Val1503Gly) | |
Y | g.12812937T>A | CA519895794 | USP9Y | c.4494T>A (p.Val1498=) n.4506T>A c.4260T>A (p.Val1420=) c.4509T>A (p.Val1503=) | |
Y | g.12812937T>C | CA519895801 | USP9Y | c.4494T>C (p.Val1498=) n.4506T>C c.4260T>C (p.Val1420=) c.4509T>C (p.Val1503=) | |
Y | g.12812937T>G | CA519895797 | USP9Y | c.4494T>G (p.Val1498=) n.4506T>G c.4260T>G (p.Val1420=) c.4509T>G (p.Val1503=) | |
Y | g.12812938A>C | CA414992256 | USP9Y | c.4495A>C (p.Thr1499Pro) n.4507A>C c.4261A>C (p.Thr1421Pro) c.4510A>C (p.Thr1504Pro) | |
Y | g.12812938A>G | CA414992257 | USP9Y | c.4495A>G (p.Thr1499Ala) n.4507A>G c.4261A>G (p.Thr1421Ala) c.4510A>G (p.Thr1504Ala) | |
Y | g.12812938A>T | CA414992261 | USP9Y | c.4495A>T (p.Thr1499Ser) n.4507A>T c.4261A>T (p.Thr1421Ser) c.4510A>T (p.Thr1504Ser) | |
Y | g.12812939C>A | CA414992264 | USP9Y | c.4496C>A (p.Thr1499Asn) n.4508C>A c.4262C>A (p.Thr1421Asn) c.4511C>A (p.Thr1504Asn) | |
Y | g.12812939C>G | CA414992266 | USP9Y | c.4496C>G (p.Thr1499Ser) n.4508C>G c.4262C>G (p.Thr1421Ser) c.4511C>G (p.Thr1504Ser) | |
Y | g.12812939C>T | CA414992267 | USP9Y | c.4496C>T (p.Thr1499Ile) n.4508C>T c.4262C>T (p.Thr1421Ile) c.4511C>T (p.Thr1504Ile) | |
Y | g.12812940del | CA2579747982 | USP9Y | c.4497del (p.Ile1500SerfsTer9) n.4509del c.4263del (p.Ile1422SerfsTer9) c.4512del (p.Ile1505SerfsTer9) | |
Y | g.12812940C>A | CA519895820 | USP9Y | c.4497C>A (p.Thr1499=) n.4509C>A c.4263C>A (p.Thr1421=) c.4512C>A (p.Thr1504=) | |
Y | g.12812940C>G | CA519895822 | USP9Y | c.4497C>G (p.Thr1499=) n.4509C>G c.4263C>G (p.Thr1421=) c.4512C>G (p.Thr1504=) | |
Y | g.12812940C>T | CA519895826 | USP9Y | c.4497C>T (p.Thr1499=) n.4509C>T c.4263C>T (p.Thr1421=) c.4512C>T (p.Thr1504=) | |
Y | g.12812941A= | CA2470559348 | USP9Y | c.4498A= (p.Ile1500=) n.4510A= c.4264A= (p.Ile1422=) c.4513A= (p.Ile1505=) | |
Y | g.12812941A>C | CA414992270 | USP9Y | c.4498A>C (p.Ile1500Leu) n.4510A>C c.4264A>C (p.Ile1422Leu) c.4513A>C (p.Ile1505Leu) | |
Y | g.12812941A>G | CA414992274 | USP9Y | c.4498A>G (p.Ile1500Val) n.4510A>G c.4264A>G (p.Ile1422Val) c.4513A>G (p.Ile1505Val) | dbSNP gnomAD v2 |
Y | g.12812941A>T | CA414992278 | USP9Y | c.4498A>T (p.Ile1500Phe) n.4510A>T c.4264A>T (p.Ile1422Phe) c.4513A>T (p.Ile1505Phe) | |
Y | g.12812942T>A | CA414992281 | USP9Y | c.4499T>A (p.Ile1500Asn) n.4511T>A c.4265T>A (p.Ile1422Asn) c.4514T>A (p.Ile1505Asn) | |
Y | g.12812942T>C | CA414992284 | USP9Y | c.4499T>C (p.Ile1500Thr) n.4511T>C c.4265T>C (p.Ile1422Thr) c.4514T>C (p.Ile1505Thr) | |
Y | g.12812942T>G | CA414992287 | USP9Y | c.4499T>G (p.Ile1500Ser) n.4511T>G c.4265T>G (p.Ile1422Ser) c.4514T>G (p.Ile1505Ser) | |
Y | g.12812943C>A | CA519895857 | USP9Y | c.4500C>A (p.Ile1500=) n.4512C>A c.4266C>A (p.Ile1422=) c.4515C>A (p.Ile1505=) | |
Y | g.12812943C>G | CA414992290 | USP9Y | c.4500C>G (p.Ile1500Met) n.4512C>G c.4266C>G (p.Ile1422Met) c.4515C>G (p.Ile1505Met) | |
Y | g.12812943C>T | CA519895863 | USP9Y | c.4500C>T (p.Ile1500=) n.4512C>T c.4266C>T (p.Ile1422=) c.4515C>T (p.Ile1505=) | gnomAD v3 gnomAD v4 |
Y | g.12812944A>C | CA414992296 | USP9Y | c.4501A>C (p.Asn1501His) n.4513A>C c.4267A>C (p.Asn1423His) c.4516A>C (p.Asn1506His) | |
Y | g.12812944A>G | CA414992298 | USP9Y | c.4501A>G (p.Asn1501Asp) n.4513A>G c.4267A>G (p.Asn1423Asp) c.4516A>G (p.Asn1506Asp) | |
Y | g.12812944A>T | CA414992305 | USP9Y | c.4501A>T (p.Asn1501Tyr) n.4513A>T c.4267A>T (p.Asn1423Tyr) c.4516A>T (p.Asn1506Tyr) | |
Y | g.12812945A>C | CA414992307 | USP9Y | c.4502A>C (p.Asn1501Thr) n.4514A>C c.4268A>C (p.Asn1423Thr) c.4517A>C (p.Asn1506Thr) | |
Y | g.12812945A>G | CA414992310 | USP9Y | c.4502A>G (p.Asn1501Ser) n.4514A>G c.4268A>G (p.Asn1423Ser) c.4517A>G (p.Asn1506Ser) | |
Y | g.12812945A>T | CA414992312 | USP9Y | c.4502A>T (p.Asn1501Ile) n.4514A>T c.4268A>T (p.Asn1423Ile) c.4517A>T (p.Asn1506Ile) | |
Y | g.12812946T>A | CA414992315 | USP9Y | c.4503T>A (p.Asn1501Lys) n.4515T>A c.4269T>A (p.Asn1423Lys) c.4518T>A (p.Asn1506Lys) | |
Y | g.12812946T>C | CA519895889 | USP9Y | c.4503T>C (p.Asn1501=) n.4515T>C c.4269T>C (p.Asn1423=) c.4518T>C (p.Asn1506=) | |
Y | g.12812946T>G | CA414992316 | USP9Y | c.4503T>G (p.Asn1501Lys) n.4515T>G c.4269T>G (p.Asn1423Lys) c.4518T>G (p.Asn1506Lys) | |
Y | g.12812947G>A | CA414992320 | USP9Y | c.4504G>A (p.Ala1502Thr) n.4516G>A c.4270G>A (p.Ala1424Thr) c.4519G>A (p.Ala1507Thr) | |
Y | g.12812947G>C | CA414992323 | USP9Y | c.4504G>C (p.Ala1502Pro) n.4516G>C c.4270G>C (p.Ala1424Pro) c.4519G>C (p.Ala1507Pro) | |
Y | g.12812947G>T | CA414992325 | USP9Y | c.4504G>T (p.Ala1502Ser) n.4516G>T c.4270G>T (p.Ala1424Ser) c.4519G>T (p.Ala1507Ser) | |
Y | g.12812948C>A | CA414992332 | USP9Y | c.4505C>A (p.Ala1502Asp) n.4517C>A c.4271C>A (p.Ala1424Asp) c.4520C>A (p.Ala1507Asp) | |
Y | g.12812948C>G | CA414992329 | USP9Y | c.4505C>G (p.Ala1502Gly) n.4517C>G c.4271C>G (p.Ala1424Gly) c.4520C>G (p.Ala1507Gly) | |
Y | g.12812948C>T | CA414992328 | USP9Y | c.4505C>T (p.Ala1502Val) n.4517C>T c.4271C>T (p.Ala1424Val) c.4520C>T (p.Ala1507Val) | |
Y | g.12812949C>A | CA519895921 | USP9Y | c.4506C>A (p.Ala1502=) n.4518C>A c.4272C>A (p.Ala1424=) c.4521C>A (p.Ala1507=) | |
Y | g.12812949C>G | CA519895923 | USP9Y | c.4506C>G (p.Ala1502=) n.4518C>G c.4272C>G (p.Ala1424=) c.4521C>G (p.Ala1507=) | |
Y | g.12812949C>T | CA519895926 | USP9Y | c.4506C>T (p.Ala1502=) n.4518C>T c.4272C>T (p.Ala1424=) c.4521C>T (p.Ala1507=) | |
Y | g.12812950G>A | CA414992335 | USP9Y | c.4507G>A (p.Gly1503Ser) n.4519G>A c.4273G>A (p.Gly1425Ser) c.4522G>A (p.Gly1508Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12812950G>C | CA414992340 | USP9Y | c.4507G>C (p.Gly1503Arg) n.4519G>C c.4273G>C (p.Gly1425Arg) c.4522G>C (p.Gly1508Arg) | |
Y | g.12812950G= | CA2470559349 | USP9Y | c.4507G= (p.Gly1503=) n.4519G= c.4273G= (p.Gly1425=) c.4522G= (p.Gly1508=) | |
Y | g.12812950G>T | CA414992337 | USP9Y | c.4507G>T (p.Gly1503Cys) n.4519G>T c.4273G>T (p.Gly1425Cys) c.4522G>T (p.Gly1508Cys) | |
Y | g.12812951G>A | CA414992343 | USP9Y | c.4508G>A (p.Gly1503Asp) n.4520G>A c.4274G>A (p.Gly1425Asp) c.4523G>A (p.Gly1508Asp) | |
Y | g.12812951G>C | CA414992349 | USP9Y | c.4508G>C (p.Gly1503Ala) n.4520G>C c.4274G>C (p.Gly1425Ala) c.4523G>C (p.Gly1508Ala) | |
Y | g.12812951G>T | CA414992346 | USP9Y | c.4508G>T (p.Gly1503Val) n.4520G>T c.4274G>T (p.Gly1425Val) c.4523G>T (p.Gly1508Val) | |
Y | g.12812952T>A | CA519895942 | USP9Y | c.4509T>A (p.Gly1503=) n.4521T>A c.4275T>A (p.Gly1425=) c.4524T>A (p.Gly1508=) | |
Y | g.12812952T>C | CA519895950 | USP9Y | c.4509T>C (p.Gly1503=) n.4521T>C c.4275T>C (p.Gly1425=) c.4524T>C (p.Gly1508=) | |
Y | g.12812952T>G | CA519895953 | USP9Y | c.4509T>G (p.Gly1503=) n.4521T>G c.4275T>G (p.Gly1425=) c.4524T>G (p.Gly1508=) | |
Y | g.12812953T>A | CA414992351 | USP9Y | c.4510T>A (p.Phe1504Ile) n.4522T>A c.4276T>A (p.Phe1426Ile) c.4525T>A (p.Phe1509Ile) | |
Y | g.12812953T>C | CA414992352 | USP9Y | c.4510T>C (p.Phe1504Leu) n.4522T>C c.4276T>C (p.Phe1426Leu) c.4525T>C (p.Phe1509Leu) | |
Y | g.12812953T>G | CA414992354 | USP9Y | c.4510T>G (p.Phe1504Val) n.4522T>G c.4276T>G (p.Phe1426Val) c.4525T>G (p.Phe1509Val) | |
Y | g.12812954T>A | CA414992359 | USP9Y | c.4511T>A (p.Phe1504Tyr) n.4523T>A c.4277T>A (p.Phe1426Tyr) c.4526T>A (p.Phe1509Tyr) | |
Y | g.12812954T>C | CA414992362 | USP9Y | c.4511T>C (p.Phe1504Ser) n.4523T>C c.4277T>C (p.Phe1426Ser) c.4526T>C (p.Phe1509Ser) | |
Y | g.12812954T>G | CA414992365 | USP9Y | c.4511T>G (p.Phe1504Cys) n.4523T>G c.4277T>G (p.Phe1426Cys) c.4526T>G (p.Phe1509Cys) | |
Y | g.12812955T>A | CA414992369 | USP9Y | c.4512T>A (p.Phe1504Leu) n.4524T>A c.4278T>A (p.Phe1426Leu) c.4527T>A (p.Phe1509Leu) | |
Y | g.12812955T>C | CA519895959 | USP9Y | c.4512T>C (p.Phe1504=) n.4524T>C c.4278T>C (p.Phe1426=) c.4527T>C (p.Phe1509=) | |
Y | g.12812955T>G | CA414992372 | USP9Y | c.4512T>G (p.Phe1504Leu) n.4524T>G c.4278T>G (p.Phe1426Leu) c.4527T>G (p.Phe1509Leu) | |
Y | g.12812956G>A | CA414992377 | USP9Y | c.4513G>A (p.Glu1505Lys) n.4525G>A c.4279G>A (p.Glu1427Lys) c.4528G>A (p.Glu1510Lys) | |
Y | g.12812956G>C | CA414992385 | USP9Y | c.4513G>C (p.Glu1505Gln) n.4525G>C c.4279G>C (p.Glu1427Gln) c.4528G>C (p.Glu1510Gln) | |
Y | g.12812956G>T | CA414992387 | USP9Y | c.4513G>T (p.Glu1505Ter) n.4525G>T c.4279G>T (p.Glu1427Ter) c.4528G>T (p.Glu1510Ter) | |
Y | g.12812957A>C | CA414992390 | USP9Y | c.4514A>C (p.Glu1505Ala) n.4526A>C c.4280A>C (p.Glu1427Ala) c.4529A>C (p.Glu1510Ala) | |
Y | g.12812957A>G | CA414992397 | USP9Y | c.4514A>G (p.Glu1505Gly) n.4526A>G c.4280A>G (p.Glu1427Gly) c.4529A>G (p.Glu1510Gly) | |
Y | g.12812957A>T | CA414992394 | USP9Y | c.4514A>T (p.Glu1505Val) n.4526A>T c.4280A>T (p.Glu1427Val) c.4529A>T (p.Glu1510Val) | |
Y | g.12812958G>A | CA519895985 | USP9Y | c.4515G>A (p.Glu1505=) n.4527G>A c.4281G>A (p.Glu1427=) c.4530G>A (p.Glu1510=) | |
Y | g.12812958G>C | CA414992401 | USP9Y | c.4515G>C (p.Glu1505Asp) n.4527G>C c.4281G>C (p.Glu1427Asp) c.4530G>C (p.Glu1510Asp) | |
Y | g.12812958G>T | CA414992403 | USP9Y | c.4515G>T (p.Glu1505Asp) n.4527G>T c.4281G>T (p.Glu1427Asp) c.4530G>T (p.Glu1510Asp) | |
Y | g.12812959C>A | CA414992406 | USP9Y | c.4516C>A (p.Leu1506Ile) n.4528C>A c.4282C>A (p.Leu1428Ile) c.4531C>A (p.Leu1511Ile) | |
Y | g.12812959C>G | CA414992408 | USP9Y | c.4516C>G (p.Leu1506Val) n.4528C>G c.4282C>G (p.Leu1428Val) c.4531C>G (p.Leu1511Val) | |
Y | g.12812959C>T | CA519895993 | USP9Y | c.4516C>T (p.Leu1506=) n.4528C>T c.4282C>T (p.Leu1428=) c.4531C>T (p.Leu1511=) | |
Y | g.12812960T>A | CA414992411 | USP9Y | c.4517T>A (p.Leu1506Gln) n.4529T>A c.4283T>A (p.Leu1428Gln) c.4532T>A (p.Leu1511Gln) | |
Y | g.12812960T>C | CA414992414 | USP9Y | c.4517T>C (p.Leu1506Pro) n.4529T>C c.4283T>C (p.Leu1428Pro) c.4532T>C (p.Leu1511Pro) | |
Y | g.12812960T>G | CA414992416 | USP9Y | c.4517T>G (p.Leu1506Arg) n.4529T>G c.4283T>G (p.Leu1428Arg) c.4532T>G (p.Leu1511Arg) | |
Y | g.12812961A= | CA2470559350 | USP9Y | c.4518A= (p.Leu1506=) n.4530A= c.4284A= (p.Leu1428=) c.4533A= (p.Leu1511=) | |
Y | g.12812961A>C | CA10573331 | USP9Y | c.4518A>C (p.Leu1506=) n.4530A>C c.4284A>C (p.Leu1428=) c.4533A>C (p.Leu1511=) | dbSNP ExAC gnomAD v2 |
Y | g.12812961A>G | CA519896001 | USP9Y | c.4518A>G (p.Leu1506=) n.4530A>G c.4284A>G (p.Leu1428=) c.4533A>G (p.Leu1511=) | |
Y | g.12812961A>T | CA519896004 | USP9Y | c.4518A>T (p.Leu1506=) n.4530A>T c.4284A>T (p.Leu1428=) c.4533A>T (p.Leu1511=) | |
Y | g.12812961dup | CA2766241862 | USP9Y | c.4518dup (p.Leu1507ThrfsTer21) n.4530dup c.4284dup (p.Leu1429ThrfsTer21) c.4533dup (p.Leu1512ThrfsTer21) | |
Y | g.12812962C>A | CA414992418 | USP9Y | c.4519C>A (p.Leu1507Ile) n.4531C>A c.4285C>A (p.Leu1429Ile) c.4534C>A (p.Leu1512Ile) | |
Y | g.12812962C>G | CA414992420 | USP9Y | c.4519C>G (p.Leu1507Val) n.4531C>G c.4285C>G (p.Leu1429Val) c.4534C>G (p.Leu1512Val) | |
Y | g.12812962C>T | CA414992417 | USP9Y | c.4519C>T (p.Leu1507Phe) n.4531C>T c.4285C>T (p.Leu1429Phe) c.4534C>T (p.Leu1512Phe) | |
Y | g.12812963T>A | CA414992424 | USP9Y | c.4520T>A (p.Leu1507His) n.4532T>A c.4286T>A (p.Leu1429His) c.4535T>A (p.Leu1512His) | |
Y | g.12812963T>C | CA414992427 | USP9Y | c.4520T>C (p.Leu1507Pro) n.4532T>C c.4286T>C (p.Leu1429Pro) c.4535T>C (p.Leu1512Pro) | |
Y | g.12812963T>G | CA414992428 | USP9Y | c.4520T>G (p.Leu1507Arg) n.4532T>G c.4286T>G (p.Leu1429Arg) c.4535T>G (p.Leu1512Arg) | |
Y | g.12812964T>A | CA519896020 | USP9Y | c.4521T>A (p.Leu1507=) n.4533T>A c.4287T>A (p.Leu1429=) c.4536T>A (p.Leu1512=) | |
Y | g.12812964T>C | CA519896021 | USP9Y | c.4521T>C (p.Leu1507=) n.4533T>C c.4287T>C (p.Leu1429=) c.4536T>C (p.Leu1512=) | |
Y | g.12812964T>G | CA519896024 | USP9Y | c.4521T>G (p.Leu1507=) n.4533T>G c.4287T>G (p.Leu1429=) c.4536T>G (p.Leu1512=) | |
Y | g.12812965G>A | CA414992431 | USP9Y | c.4522G>A (p.Val1508Ile) n.4534G>A c.4288G>A (p.Val1430Ile) c.4537G>A (p.Val1513Ile) | |
Y | g.12812965G>C | CA414992434 | USP9Y | c.4522G>C (p.Val1508Leu) n.4534G>C c.4288G>C (p.Val1430Leu) c.4537G>C (p.Val1513Leu) | |
Y | g.12812965G>T | CA414992438 | USP9Y | c.4522G>T (p.Val1508Leu) n.4534G>T c.4288G>T (p.Val1430Leu) c.4537G>T (p.Val1513Leu) | |
Y | g.12812966T>A | CA414992441 | USP9Y | c.4523T>A (p.Val1508Glu) n.4535T>A c.4289T>A (p.Val1430Glu) c.4538T>A (p.Val1513Glu) | |
Y | g.12812966T>C | CA414992445 | USP9Y | c.4523T>C (p.Val1508Ala) n.4535T>C c.4289T>C (p.Val1430Ala) c.4538T>C (p.Val1513Ala) | |
Y | g.12812966T>G | CA414992446 | USP9Y | c.4523T>G (p.Val1508Gly) n.4535T>G c.4289T>G (p.Val1430Gly) c.4538T>G (p.Val1513Gly) | |
Y | g.12812967A>C | CA519896057 | USP9Y | c.4524A>C (p.Val1508=) n.4536A>C c.4290A>C (p.Val1430=) c.4539A>C (p.Val1513=) | |
Y | g.12812967A>G | CA519896051 | USP9Y | c.4524A>G (p.Val1508=) n.4536A>G c.4290A>G (p.Val1430=) c.4539A>G (p.Val1513=) | |
Y | g.12812967A>T | CA519896048 | USP9Y | c.4524A>T (p.Val1508=) n.4536A>T c.4290A>T (p.Val1430=) c.4539A>T (p.Val1513=) | |
Y | g.12812968G>A | CA10573332 | USP9Y | c.4525G>A (p.Ala1509Thr) n.4537G>A c.4291G>A (p.Ala1431Thr) c.4540G>A (p.Ala1514Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
Y | g.12812968G>C | CA414992448 | USP9Y | c.4525G>C (p.Ala1509Pro) n.4537G>C c.4291G>C (p.Ala1431Pro) c.4540G>C (p.Ala1514Pro) | |
Y | g.12812968G= | CA2470559351 | USP9Y | c.4525G= (p.Ala1509=) n.4537G= c.4291G= (p.Ala1431=) c.4540G= (p.Ala1514=) | |
Y | g.12812968G>T | CA414992449 | USP9Y | c.4525G>T (p.Ala1509Ser) n.4537G>T c.4291G>T (p.Ala1431Ser) c.4540G>T (p.Ala1514Ser) | |
Y | g.12812969C>A | CA414992451 | USP9Y | c.4526C>A (p.Ala1509Glu) n.4538C>A c.4292C>A (p.Ala1431Glu) c.4541C>A (p.Ala1514Glu) | |
Y | g.12812969C>G | CA414992456 | USP9Y | c.4526C>G (p.Ala1509Gly) n.4538C>G c.4292C>G (p.Ala1431Gly) c.4541C>G (p.Ala1514Gly) | |
Y | g.12812969C>T | CA414992453 | USP9Y | c.4526C>T (p.Ala1509Val) n.4538C>T c.4292C>T (p.Ala1431Val) c.4541C>T (p.Ala1514Val) | |
Y | g.12812970A>C | CA519896075 | USP9Y | c.4527A>C (p.Ala1509=) n.4539A>C c.4293A>C (p.Ala1431=) c.4542A>C (p.Ala1514=) | |
Y | g.12812970A>G | CA519896077 | USP9Y | c.4527A>G (p.Ala1509=) n.4539A>G c.4293A>G (p.Ala1431=) c.4542A>G (p.Ala1514=) | |
Y | g.12812970A>T | CA519896079 | USP9Y | c.4527A>T (p.Ala1509=) n.4539A>T c.4293A>T (p.Ala1431=) c.4542A>T (p.Ala1514=) | |
Y | g.12812971T>A | CA414992459 | USP9Y | c.4528T>A (p.Leu1510Ile) n.4540T>A c.4294T>A (p.Leu1432Ile) c.4543T>A (p.Leu1515Ile) | |
Y | g.12812971T>C | CA519896084 | USP9Y | c.4528T>C (p.Leu1510=) n.4540T>C c.4294T>C (p.Leu1432=) c.4543T>C (p.Leu1515=) | |
Y | g.12812971T>G | CA414992462 | USP9Y | c.4528T>G (p.Leu1510Val) n.4540T>G c.4294T>G (p.Leu1432Val) c.4543T>G (p.Leu1515Val) | |
Y | g.12812972T>A | CA414992466 | USP9Y | c.4529T>A (p.Leu1510Ter) n.4541T>A c.4295T>A (p.Leu1432Ter) c.4544T>A (p.Leu1515Ter) | |
Y | g.12812972T>C | CA414992469 | USP9Y | c.4529T>C (p.Leu1510Ser) n.4541T>C c.4295T>C (p.Leu1432Ser) c.4544T>C (p.Leu1515Ser) | |
Y | g.12812972T>G | CA414992471 | USP9Y | c.4529T>G (p.Leu1510Ter) n.4541T>G c.4295T>G (p.Leu1432Ter) c.4544T>G (p.Leu1515Ter) | |
Y | g.12812973A>C | CA414992472 | USP9Y | c.4530A>C (p.Leu1510Phe) n.4542A>C c.4296A>C (p.Leu1432Phe) c.4545A>C (p.Leu1515Phe) | |
Y | g.12812973A>G | CA519896096 | USP9Y | c.4530A>G (p.Leu1510=) n.4542A>G c.4296A>G (p.Leu1432=) c.4545A>G (p.Leu1515=) | |
Y | g.12812973A>T | CA414992474 | USP9Y | c.4530A>T (p.Leu1510Phe) n.4542A>T c.4296A>T (p.Leu1432Phe) c.4545A>T (p.Leu1515Phe) | |
Y | g.12812974G>A | CA414992476 | USP9Y | c.4531G>A (p.Ala1511Thr) n.4543G>A c.4297G>A (p.Ala1433Thr) c.4546G>A (p.Ala1516Thr) | |
Y | g.12812974G>C | CA414992478 | USP9Y | c.4531G>C (p.Ala1511Pro) n.4543G>C c.4297G>C (p.Ala1433Pro) c.4546G>C (p.Ala1516Pro) | |
Y | g.12812974G>T | CA414992480 | USP9Y | c.4531G>T (p.Ala1511Ser) n.4543G>T c.4297G>T (p.Ala1433Ser) c.4546G>T (p.Ala1516Ser) | |
Y | g.12812975C>A | CA414992491 | USP9Y | c.4532C>A (p.Ala1511Asp) n.4544C>A c.4298C>A (p.Ala1433Asp) c.4547C>A (p.Ala1516Asp) | |
Y | g.12812975C>G | CA414992489 | USP9Y | c.4532C>G (p.Ala1511Gly) n.4544C>G c.4298C>G (p.Ala1433Gly) c.4547C>G (p.Ala1516Gly) | |
Y | g.12812975C>T | CA414992486 | USP9Y | c.4532C>T (p.Ala1511Val) n.4544C>T c.4298C>T (p.Ala1433Val) c.4547C>T (p.Ala1516Val) | |
Y | g.12812976T>A | CA519896131 | USP9Y | c.4533T>A (p.Ala1511=) n.4545T>A c.4299T>A (p.Ala1433=) c.4548T>A (p.Ala1516=) | |
Y | g.12812976T>C | CA519896133 | USP9Y | c.4533T>C (p.Ala1511=) n.4545T>C c.4299T>C (p.Ala1433=) c.4548T>C (p.Ala1516=) | |
Y | g.12812976T>G | CA519896136 | USP9Y | c.4533T>G (p.Ala1511=) n.4545T>G c.4299T>G (p.Ala1433=) c.4548T>G (p.Ala1516=) | |
Y | g.12812977A>C | CA414992493 | USP9Y | c.4534A>C (p.Ile1512Leu) n.4546A>C c.4300A>C (p.Ile1434Leu) c.4549A>C (p.Ile1517Leu) | |
Y | g.12812977A>G | CA414992496 | USP9Y | c.4534A>G (p.Ile1512Val) n.4546A>G c.4300A>G (p.Ile1434Val) c.4549A>G (p.Ile1517Val) | |
Y | g.12812977A>T | CA414992495 | USP9Y | c.4534A>T (p.Ile1512Phe) n.4546A>T c.4300A>T (p.Ile1434Phe) c.4549A>T (p.Ile1517Phe) | |
Y | g.12812978T>A | CA414992504 | USP9Y | c.4535T>A (p.Ile1512Asn) n.4547T>A c.4301T>A (p.Ile1434Asn) c.4550T>A (p.Ile1517Asn) | |
Y | g.12812978T>C | CA414992507 | USP9Y | c.4535T>C (p.Ile1512Thr) n.4547T>C c.4301T>C (p.Ile1434Thr) c.4550T>C (p.Ile1517Thr) | |
Y | g.12812978T>G | CA414992512 | USP9Y | c.4535T>G (p.Ile1512Ser) n.4547T>G c.4301T>G (p.Ile1434Ser) c.4550T>G (p.Ile1517Ser) | |
Y | g.12812979T>A | CA519896148 | USP9Y | c.4536T>A (p.Ile1512=) n.4548T>A c.4302T>A (p.Ile1434=) c.4551T>A (p.Ile1517=) | |
Y | g.12812979T>C | CA519896150 | USP9Y | c.4536T>C (p.Ile1512=) n.4548T>C c.4302T>C (p.Ile1434=) c.4551T>C (p.Ile1517=) | |
Y | g.12812979T>G | CA414992514 | USP9Y | c.4536T>G (p.Ile1512Met) n.4548T>G c.4302T>G (p.Ile1434Met) c.4551T>G (p.Ile1517Met) | |
Y | g.12812980G>A | CA414992516 | USP9Y | c.4537G>A (p.Gly1513Ser) n.4549G>A c.4303G>A (p.Gly1435Ser) c.4552G>A (p.Gly1518Ser) | |
Y | g.12812980G>C | CA414992519 | USP9Y | c.4537G>C (p.Gly1513Arg) n.4549G>C c.4303G>C (p.Gly1435Arg) c.4552G>C (p.Gly1518Arg) | |
Y | g.12812980G>T | CA414992523 | USP9Y | c.4537G>T (p.Gly1513Cys) n.4549G>T c.4303G>T (p.Gly1435Cys) c.4552G>T (p.Gly1518Cys) | |
Y | g.12812981G>A | CA414992534 | USP9Y | c.4538G>A (p.Gly1513Asp) n.4550G>A c.4304G>A (p.Gly1435Asp) c.4553G>A (p.Gly1518Asp) | |
Y | g.12812981G>C | CA414992537 | USP9Y | c.4538G>C (p.Gly1513Ala) n.4550G>C c.4304G>C (p.Gly1435Ala) c.4553G>C (p.Gly1518Ala) | |
Y | g.12812981G>T | CA414992541 | USP9Y | c.4538G>T (p.Gly1513Val) n.4550G>T c.4304G>T (p.Gly1435Val) c.4553G>T (p.Gly1518Val) | |
Y | g.12812982C>A | CA519896159 | USP9Y | c.4539C>A (p.Gly1513=) n.4551C>A c.4305C>A (p.Gly1435=) c.4554C>A (p.Gly1518=) | |
Y | g.12812982C>G | CA519896161 | USP9Y | c.4539C>G (p.Gly1513=) n.4551C>G c.4305C>G (p.Gly1435=) c.4554C>G (p.Gly1518=) | |
Y | g.12812982C>T | CA519896163 | USP9Y | c.4539C>T (p.Gly1513=) n.4551C>T c.4305C>T (p.Gly1435=) c.4554C>T (p.Gly1518=) | |
Y | g.12812983T>A | CA414992550 | USP9Y | c.4540T>A (p.Cys1514Ser) n.4552T>A c.4306T>A (p.Cys1436Ser) c.4555T>A (p.Cys1519Ser) | |
Y | g.12812983T>C | CA414992547 | USP9Y | c.4540T>C (p.Cys1514Arg) n.4552T>C c.4306T>C (p.Cys1436Arg) c.4555T>C (p.Cys1519Arg) | |
Y | g.12812983T>G | CA414992545 | USP9Y | c.4540T>G (p.Cys1514Gly) n.4552T>G c.4306T>G (p.Cys1436Gly) c.4555T>G (p.Cys1519Gly) | |
Y | g.12812984G>A | CA414992552 | USP9Y | c.4541G>A (p.Cys1514Tyr) n.4553G>A c.4307G>A (p.Cys1436Tyr) c.4556G>A (p.Cys1519Tyr) | |
Y | g.12812984G>C | CA414992558 | USP9Y | c.4541G>C (p.Cys1514Ser) n.4553G>C c.4307G>C (p.Cys1436Ser) c.4556G>C (p.Cys1519Ser) | |
Y | g.12812984G>T | CA414992559 | USP9Y | c.4541G>T (p.Cys1514Phe) n.4553G>T c.4307G>T (p.Cys1436Phe) c.4556G>T (p.Cys1519Phe) | |
Y | g.12812985T>A | CA414992561 | USP9Y | c.4542T>A (p.Cys1514Ter) n.4554T>A c.4308T>A (p.Cys1436Ter) c.4557T>A (p.Cys1519Ter) | |
Y | g.12812985T>C | CA519896206 | USP9Y | c.4542T>C (p.Cys1514=) n.4554T>C c.4308T>C (p.Cys1436=) c.4557T>C (p.Cys1519=) | |
Y | g.12812985T>G | CA414992563 | USP9Y | c.4542T>G (p.Cys1514Trp) n.4554T>G c.4308T>G (p.Cys1436Trp) c.4557T>G (p.Cys1519Trp) | |
Y | g.12812986G>A | CA414992566 | USP9Y | c.4543G>A (p.Val1515Met) n.4555G>A c.4309G>A (p.Val1437Met) c.4558G>A (p.Val1520Met) | gnomAD v3 gnomAD v4 |
Y | g.12812986G>C | CA414992568 | USP9Y | c.4543G>C (p.Val1515Leu) n.4555G>C c.4309G>C (p.Val1437Leu) c.4558G>C (p.Val1520Leu) | |
Y | g.12812986G>T | CA414992570 | USP9Y | c.4543G>T (p.Val1515Leu) n.4555G>T c.4309G>T (p.Val1437Leu) c.4558G>T (p.Val1520Leu) | |
Y | g.12812987T>A | CA414992574 | USP9Y | c.4544T>A (p.Val1515Glu) n.4556T>A c.4310T>A (p.Val1437Glu) c.4559T>A (p.Val1520Glu) | |
Y | g.12812987T>C | CA414992576 | USP9Y | c.4544T>C (p.Val1515Ala) n.4556T>C c.4310T>C (p.Val1437Ala) c.4559T>C (p.Val1520Ala) | |
Y | g.12812987T>G | CA414992577 | USP9Y | c.4544T>G (p.Val1515Gly) n.4556T>G c.4310T>G (p.Val1437Gly) c.4559T>G (p.Val1520Gly) | |
Y | g.12812988G>A | CA519896226 | USP9Y | c.4545G>A (p.Val1515=) n.4557G>A c.4311G>A (p.Val1437=) c.4560G>A (p.Val1520=) | |
Y | g.12812988G>C | CA519896222 | USP9Y | c.4545G>C (p.Val1515=) n.4557G>C c.4311G>C (p.Val1437=) c.4560G>C (p.Val1520=) | |
Y | g.12812988G>T | CA519896220 | USP9Y | c.4545G>T (p.Val1515=) n.4557G>T c.4311G>T (p.Val1437=) c.4560G>T (p.Val1520=) | |
Y | g.12812989A>C | CA519896230 | USP9Y | c.4546A>C (p.Arg1516=) n.4558A>C c.4312A>C (p.Arg1438=) c.4561A>C (p.Arg1521=) | |
Y | g.12812989A>G | CA414992582 | USP9Y | c.4546A>G (p.Arg1516Gly) n.4558A>G c.4312A>G (p.Arg1438Gly) c.4561A>G (p.Arg1521Gly) | |
Y | g.12812989A>T | CA414992580 | USP9Y | c.4546A>T (p.Arg1516Trp) n.4558A>T c.4312A>T (p.Arg1438Trp) c.4561A>T (p.Arg1521Trp) | |
Y | g.12812990G>A | CA414992585 | USP9Y | c.4547G>A (p.Arg1516Lys) n.4559G>A c.4313G>A (p.Arg1438Lys) c.4562G>A (p.Arg1521Lys) | |
Y | g.12812990G>C | CA414992587 | USP9Y | c.4547G>C (p.Arg1516Thr) n.4559G>C c.4313G>C (p.Arg1438Thr) c.4562G>C (p.Arg1521Thr) | |
Y | g.12812990G>T | CA414992592 | USP9Y | c.4547G>T (p.Arg1516Met) n.4559G>T c.4313G>T (p.Arg1438Met) c.4562G>T (p.Arg1521Met) | |
Y | g.12812991G>A | CA519896265 | USP9Y | c.4548G>A (p.Arg1516=) n.4560G>A c.4314G>A (p.Arg1438=) c.4563G>A (p.Arg1521=) | |
Y | g.12812991G>C | CA414992596 | USP9Y | c.4548G>C (p.Arg1516Ser) n.4560G>C c.4314G>C (p.Arg1438Ser) c.4563G>C (p.Arg1521Ser) | |
Y | g.12812991G>T | CA414992598 | USP9Y | c.4548G>T (p.Arg1516Ser) n.4560G>T c.4314G>T (p.Arg1438Ser) c.4563G>T (p.Arg1521Ser) | |
Y | g.12812992A>C | CA414992600 | USP9Y | c.4549A>C (p.Asn1517His) n.4561A>C c.4315A>C (p.Asn1439His) c.4564A>C (p.Asn1522His) | |
Y | g.12812992A>G | CA414992603 | USP9Y | c.4549A>G (p.Asn1517Asp) n.4561A>G c.4315A>G (p.Asn1439Asp) c.4564A>G (p.Asn1522Asp) | |
Y | g.12812992A>T | CA414992604 | USP9Y | c.4549A>T (p.Asn1517Tyr) n.4561A>T c.4315A>T (p.Asn1439Tyr) c.4564A>T (p.Asn1522Tyr) | |
Y | g.12812993A>C | CA414992607 | USP9Y | c.4550A>C (p.Asn1517Thr) n.4562A>C c.4316A>C (p.Asn1439Thr) c.4565A>C (p.Asn1522Thr) | |
Y | g.12812993A>G | CA414992612 | USP9Y | c.4550A>G (p.Asn1517Ser) n.4562A>G c.4316A>G (p.Asn1439Ser) c.4565A>G (p.Asn1522Ser) | |
Y | g.12812993A>T | CA414992615 | USP9Y | c.4550A>T (p.Asn1517Ile) n.4562A>T c.4316A>T (p.Asn1439Ile) c.4565A>T (p.Asn1522Ile) | |
Y | g.12812994T>A | CA414992618 | USP9Y | c.4551T>A (p.Asn1517Lys) n.4563T>A c.4317T>A (p.Asn1439Lys) c.4566T>A (p.Asn1522Lys) | |
Y | g.12812994T>C | CA519896287 | USP9Y | c.4551T>C (p.Asn1517=) n.4563T>C c.4317T>C (p.Asn1439=) c.4566T>C (p.Asn1522=) | |
Y | g.12812994T>G | CA414992621 | USP9Y | c.4551T>G (p.Asn1517Lys) n.4563T>G c.4317T>G (p.Asn1439Lys) c.4566T>G (p.Asn1522Lys) | |
Y | g.12812995C>A | CA414992624 | USP9Y | c.4552C>A (p.Leu1518Ile) n.4564C>A c.4318C>A (p.Leu1440Ile) c.4567C>A (p.Leu1523Ile) | |
Y | g.12812995C>G | CA414992629 | USP9Y | c.4552C>G (p.Leu1518Val) n.4564C>G c.4318C>G (p.Leu1440Val) c.4567C>G (p.Leu1523Val) | |
Y | g.12812995C>T | CA414992627 | USP9Y | c.4552C>T (p.Leu1518Phe) n.4564C>T c.4318C>T (p.Leu1440Phe) c.4567C>T (p.Leu1523Phe) | |
Y | g.12812996T>A | CA414992631 | USP9Y | c.4553T>A (p.Leu1518His) n.4565T>A c.4319T>A (p.Leu1440His) c.4568T>A (p.Leu1523His) | |
Y | g.12812996T>C | CA414992634 | USP9Y | c.4553T>C (p.Leu1518Pro) n.4565T>C c.4319T>C (p.Leu1440Pro) c.4568T>C (p.Leu1523Pro) | |
Y | g.12812996T>G | CA414992636 | USP9Y | c.4553T>G (p.Leu1518Arg) n.4565T>G c.4319T>G (p.Leu1440Arg) c.4568T>G (p.Leu1523Arg) | |
Y | g.12812997C>A | CA519896302 | USP9Y | c.4554C>A (p.Leu1518=) n.4566C>A c.4320C>A (p.Leu1440=) c.4569C>A (p.Leu1523=) | |
Y | g.12812997C>G | CA519896303 | USP9Y | c.4554C>G (p.Leu1518=) n.4566C>G c.4320C>G (p.Leu1440=) c.4569C>G (p.Leu1523=) | |
Y | g.12812997C>T | CA519896306 | USP9Y | c.4554C>T (p.Leu1518=) n.4566C>T c.4320C>T (p.Leu1440=) c.4569C>T (p.Leu1523=) | |
Y | g.12812998A>C | CA414992639 | USP9Y | c.4555A>C (p.Lys1519Gln) n.4567A>C c.4321A>C (p.Lys1441Gln) c.4570A>C (p.Lys1524Gln) | |
Y | g.12812998A>G | CA414992642 | USP9Y | c.4555A>G (p.Lys1519Glu) n.4567A>G c.4321A>G (p.Lys1441Glu) c.4570A>G (p.Lys1524Glu) | |
Y | g.12812998A>T | CA414992643 | USP9Y | c.4555A>T (p.Lys1519Ter) n.4567A>T c.4321A>T (p.Lys1441Ter) c.4570A>T (p.Lys1524Ter) | |
Y | g.12812999A= | CA2470559352 | USP9Y | c.4556A= (p.Lys1519=) n.4568A= c.4322A= (p.Lys1441=) c.4571A= (p.Lys1524=) | |
Y | g.12812999A>C | CA10573333 | USP9Y | c.4556A>C (p.Lys1519Thr) n.4568A>C c.4322A>C (p.Lys1441Thr) c.4571A>C (p.Lys1524Thr) | dbSNP ExAC |
Y | g.12812999A>G | CA414992648 | USP9Y | c.4556A>G (p.Lys1519Arg) n.4568A>G c.4322A>G (p.Lys1441Arg) c.4571A>G (p.Lys1524Arg) | |
Y | g.12812999A>T | CA414992650 | USP9Y | c.4556A>T (p.Lys1519Ile) n.4568A>T c.4322A>T (p.Lys1441Ile) c.4571A>T (p.Lys1524Ile) | |
Y | g.12813000A>C | CA414992655 | USP9Y | c.4557A>C (p.Lys1519Asn) n.4569A>C c.4323A>C (p.Lys1441Asn) c.4572A>C (p.Lys1524Asn) | |
Y | g.12813000A>G | CA519896321 | USP9Y | c.4557A>G (p.Lys1519=) n.4569A>G c.4323A>G (p.Lys1441=) c.4572A>G (p.Lys1524=) | |
Y | g.12813000A>T | CA414992658 | USP9Y | c.4557A>T (p.Lys1519Asn) n.4569A>T c.4323A>T (p.Lys1441Asn) c.4572A>T (p.Lys1524Asn) | |
Y | g.12813001C>A | CA414992669 | USP9Y | c.4558C>A (p.Gln1520Lys) n.4570C>A c.4324C>A (p.Gln1442Lys) c.4573C>A (p.Gln1525Lys) | |
Y | g.12813001C>G | CA414992670 | USP9Y | c.4558C>G (p.Gln1520Glu) n.4570C>G c.4324C>G (p.Gln1442Glu) c.4573C>G (p.Gln1525Glu) | |
Y | g.12813001C>T | CA414992661 | USP9Y | c.4558C>T (p.Gln1520Ter) n.4570C>T c.4324C>T (p.Gln1442Ter) c.4573C>T (p.Gln1525Ter) | |
Y | g.12813002A>C | CA414992672 | USP9Y | c.4559A>C (p.Gln1520Pro) n.4571A>C c.4325A>C (p.Gln1442Pro) c.4574A>C (p.Gln1525Pro) | |
Y | g.12813002A>G | CA414992671 | USP9Y | c.4559A>G (p.Gln1520Arg) n.4571A>G c.4325A>G (p.Gln1442Arg) c.4574A>G (p.Gln1525Arg) | |
Y | g.12813002A>T | CA414992673 | USP9Y | c.4559A>T (p.Gln1520Leu) n.4571A>T c.4325A>T (p.Gln1442Leu) c.4574A>T (p.Gln1525Leu) | |
Y | g.12813003_12813004del | CA2579747983 | USP9Y | c.4560_4561del (p.Gln1520HisfsTer7) n.4572_4573del c.4326_4327del (p.Gln1442HisfsTer7) c.4575_4576del (p.Gln1525HisfsTer7) | |
Y | g.12813003G>A | CA519896340 | USP9Y | c.4560G>A (p.Gln1520=) n.4572G>A c.4326G>A (p.Gln1442=) c.4575G>A (p.Gln1525=) | |
Y | g.12813003G>C | CA414992674 | USP9Y | c.4560G>C (p.Gln1520His) n.4572G>C c.4326G>C (p.Gln1442His) c.4575G>C (p.Gln1525His) | |
Y | g.12813003G>T | CA414992676 | USP9Y | c.4560G>T (p.Gln1520His) n.4572G>T c.4326G>T (p.Gln1442His) c.4575G>T (p.Gln1525His) | |
Y | g.12813004A>C | CA414992678 | USP9Y | c.4561A>C (p.Ile1521Leu) n.4573A>C c.4327A>C (p.Ile1443Leu) c.4576A>C (p.Ile1526Leu) | |
Y | g.12813004A>G | CA414992681 | USP9Y | c.4561A>G (p.Ile1521Val) n.4573A>G c.4327A>G (p.Ile1443Val) c.4576A>G (p.Ile1526Val) | |
Y | g.12813004A>T | CA414992680 | USP9Y | c.4561A>T (p.Ile1521Leu) n.4573A>T c.4327A>T (p.Ile1443Leu) c.4576A>T (p.Ile1526Leu) | |
Y | g.12813005T>A | CA414992686 | USP9Y | c.4562T>A (p.Ile1521Lys) n.4574T>A c.4328T>A (p.Ile1443Lys) c.4577T>A (p.Ile1526Lys) | |
Y | g.12813005T>C | CA414992692 | USP9Y | c.4562T>C (p.Ile1521Thr) n.4574T>C c.4328T>C (p.Ile1443Thr) c.4577T>C (p.Ile1526Thr) | |
Y | g.12813005T>G | CA414992689 | USP9Y | c.4562T>G (p.Ile1521Arg) n.4574T>G c.4328T>G (p.Ile1443Arg) c.4577T>G (p.Ile1526Arg) | |
Y | g.12813006A= | CA2470559353 | USP9Y | c.4563A= (p.Ile1521=) n.4575A= c.4329A= (p.Ile1443=) c.4578A= (p.Ile1526=) | |
Y | g.12813006A>C | CA519896357 | USP9Y | c.4563A>C (p.Ile1521=) n.4575A>C c.4329A>C (p.Ile1443=) c.4578A>C (p.Ile1526=) | |
Y | g.12813006A>G | CA10573334 | USP9Y | c.4563A>G (p.Ile1521Met) n.4575A>G c.4329A>G (p.Ile1443Met) c.4578A>G (p.Ile1526Met) | dbSNP ExAC gnomAD v2 |
Y | g.12813006A>T | CA519896362 | USP9Y | c.4563A>T (p.Ile1521=) n.4575A>T c.4329A>T (p.Ile1443=) c.4578A>T (p.Ile1526=) | |
Y | g.12813007G>A | CA414992705 | USP9Y | c.4564G>A (p.Val1522Ile) n.4576G>A c.4330G>A (p.Val1444Ile) c.4579G>A (p.Val1527Ile) | |
Y | g.12813007G>C | CA414992708 | USP9Y | c.4564G>C (p.Val1522Leu) n.4576G>C c.4330G>C (p.Val1444Leu) c.4579G>C (p.Val1527Leu) | |
Y | g.12813007G>T | CA414992710 | USP9Y | c.4564G>T (p.Val1522Leu) n.4576G>T c.4330G>T (p.Val1444Leu) c.4579G>T (p.Val1527Leu) | |
Y | g.12813008T>A | CA414992713 | USP9Y | c.4565T>A (p.Val1522Glu) n.4577T>A c.4331T>A (p.Val1444Glu) c.4580T>A (p.Val1527Glu) | |
Y | g.12813008T>C | CA414992715 | USP9Y | c.4565T>C (p.Val1522Ala) n.4577T>C c.4331T>C (p.Val1444Ala) c.4580T>C (p.Val1527Ala) | |
Y | g.12813008T>G | CA414992719 | USP9Y | c.4565T>G (p.Val1522Gly) n.4577T>G c.4331T>G (p.Val1444Gly) c.4580T>G (p.Val1527Gly) | |
Y | g.12813009A= | CA2470559354 | USP9Y | c.4566A= (p.Val1522=) n.4578A= c.4332A= (p.Val1444=) c.4581A= (p.Val1527=) | |
Y | g.12813009A>C | CA519896384 | USP9Y | c.4566A>C (p.Val1522=) n.4578A>C c.4332A>C (p.Val1444=) c.4581A>C (p.Val1527=) | |
Y | g.12813009A>G | CA519896382 | USP9Y | c.4566A>G (p.Val1522=) n.4578A>G c.4332A>G (p.Val1444=) c.4581A>G (p.Val1527=) | |
Y | g.12813009A>T | CA519896380 | USP9Y | c.4566A>T (p.Val1522=) n.4578A>T c.4332A>T (p.Val1444=) c.4581A>T (p.Val1527=) | |
Y | g.12813009_12813010insT | CA1139264734 | USP9Y | c.4566_4567insT (p.Asp1523Ter) n.4578_4579insT c.4332_4333insT (p.Asp1445Ter) c.4581_4582insT (p.Asp1528Ter) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.12813010G>A | CA414992722 | USP9Y | c.4567G>A (p.Asp1523Asn) n.4579G>A c.4333G>A (p.Asp1445Asn) c.4582G>A (p.Asp1528Asn) | |
Y | g.12813010G>C | CA414992725 | USP9Y | c.4567G>C (p.Asp1523His) n.4579G>C c.4333G>C (p.Asp1445His) c.4582G>C (p.Asp1528His) | |
Y | g.12813010G>T | CA414992729 | USP9Y | c.4567G>T (p.Asp1523Tyr) n.4579G>T c.4333G>T (p.Asp1445Tyr) c.4582G>T (p.Asp1528Tyr) | |
Y | g.12813011A>C | CA414992737 | USP9Y | c.4568A>C (p.Asp1523Ala) n.4580A>C c.4334A>C (p.Asp1445Ala) c.4583A>C (p.Asp1528Ala) | |
Y | g.12813011A>G | CA414992732 | USP9Y | c.4568A>G (p.Asp1523Gly) n.4580A>G c.4334A>G (p.Asp1445Gly) c.4583A>G (p.Asp1528Gly) | |
Y | g.12813011A>T | CA414992734 | USP9Y | c.4568A>T (p.Asp1523Val) n.4580A>T c.4334A>T (p.Asp1445Val) c.4583A>T (p.Asp1528Val) | |
Y | g.12813012C>A | CA414992741 | USP9Y | c.4569C>A (p.Asp1523Glu) n.4581C>A c.4335C>A (p.Asp1445Glu) c.4584C>A (p.Asp1528Glu) | |
Y | g.12813012C>G | CA414992743 | USP9Y | c.4569C>G (p.Asp1523Glu) n.4581C>G c.4335C>G (p.Asp1445Glu) c.4584C>G (p.Asp1528Glu) | |
Y | g.12813012C>T | CA519896400 | USP9Y | c.4569C>T (p.Asp1523=) n.4581C>T c.4335C>T (p.Asp1445=) c.4584C>T (p.Asp1528=) | |
Y | g.12813013T>A | CA414992745 | USP9Y | c.4570T>A (p.Cys1524Ser) n.4582T>A c.4336T>A (p.Cys1446Ser) c.4585T>A (p.Cys1529Ser) | |
Y | g.12813013T>C | CA414992747 | USP9Y | c.4570T>C (p.Cys1524Arg) n.4582T>C c.4336T>C (p.Cys1446Arg) c.4585T>C (p.Cys1529Arg) | |
Y | g.12813013T>G | CA414992751 | USP9Y | c.4570T>G (p.Cys1524Gly) n.4582T>G c.4336T>G (p.Cys1446Gly) c.4585T>G (p.Cys1529Gly) | |
Y | g.12813014G>A | CA414992753 | USP9Y | c.4571G>A (p.Cys1524Tyr) n.4583G>A c.4337G>A (p.Cys1446Tyr) c.4586G>A (p.Cys1529Tyr) | |
Y | g.12813014G>C | CA414992756 | USP9Y | c.4571G>C (p.Cys1524Ser) n.4583G>C c.4337G>C (p.Cys1446Ser) c.4586G>C (p.Cys1529Ser) | |
Y | g.12813014G>T | CA414992759 | USP9Y | c.4571G>T (p.Cys1524Phe) n.4583G>T c.4337G>T (p.Cys1446Phe) c.4586G>T (p.Cys1529Phe) |