Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12812908C>ACA414992042USP9Yc.4465C>A (p.Gln1489Lys)
n.4477C>A
c.4231C>A (p.Gln1411Lys)
c.4480C>A (p.Gln1494Lys)
Yg.12812908C>GCA414992044USP9Yc.4465C>G (p.Gln1489Glu)
n.4477C>G
c.4231C>G (p.Gln1411Glu)
c.4480C>G (p.Gln1494Glu)
Yg.12812908C>TCA414992047USP9Yc.4465C>T (p.Gln1489Ter)
n.4477C>T
c.4231C>T (p.Gln1411Ter)
c.4480C>T (p.Gln1494Ter)
Yg.12812909A>CCA414992050USP9Yc.4466A>C (p.Gln1489Pro)
n.4478A>C
c.4232A>C (p.Gln1411Pro)
c.4481A>C (p.Gln1494Pro)
Yg.12812909A>GCA414992052USP9Yc.4466A>G (p.Gln1489Arg)
n.4478A>G
c.4232A>G (p.Gln1411Arg)
c.4481A>G (p.Gln1494Arg)
Yg.12812909A>TCA414992055USP9Yc.4466A>T (p.Gln1489Leu)
n.4478A>T
c.4232A>T (p.Gln1411Leu)
c.4481A>T (p.Gln1494Leu)
Yg.12812910G>ACA519895619USP9Yc.4467G>A (p.Gln1489=)
n.4479G>A
c.4233G>A (p.Gln1411=)
c.4482G>A (p.Gln1494=)
Yg.12812910G>CCA414992058USP9Yc.4467G>C (p.Gln1489His)
n.4479G>C
c.4233G>C (p.Gln1411His)
c.4482G>C (p.Gln1494His)
Yg.12812910G>TCA414992061USP9Yc.4467G>T (p.Gln1489His)
n.4479G>T
c.4233G>T (p.Gln1411His)
c.4482G>T (p.Gln1494His)
Yg.12812911G>ACA414992067USP9Yc.4468G>A (p.Ala1490Thr)
n.4480G>A
c.4234G>A (p.Ala1412Thr)
c.4483G>A (p.Ala1495Thr)
Yg.12812911G>CCA414992069USP9Yc.4468G>C (p.Ala1490Pro)
n.4480G>C
c.4234G>C (p.Ala1412Pro)
c.4483G>C (p.Ala1495Pro)
Yg.12812911G>TCA414992064USP9Yc.4468G>T (p.Ala1490Ser)
n.4480G>T
c.4234G>T (p.Ala1412Ser)
c.4483G>T (p.Ala1495Ser)
Yg.12812912C>ACA414992072USP9Yc.4469C>A (p.Ala1490Asp)
n.4481C>A
c.4235C>A (p.Ala1412Asp)
c.4484C>A (p.Ala1495Asp)
Yg.12812912C>GCA414992074USP9Yc.4469C>G (p.Ala1490Gly)
n.4481C>G
c.4235C>G (p.Ala1412Gly)
c.4484C>G (p.Ala1495Gly)
Yg.12812912C>TCA414992076USP9Yc.4469C>T (p.Ala1490Val)
n.4481C>T
c.4235C>T (p.Ala1412Val)
c.4484C>T (p.Ala1495Val)
Yg.12812913T>ACA519895634USP9Yc.4470T>A (p.Ala1490=)
n.4482T>A
c.4236T>A (p.Ala1412=)
c.4485T>A (p.Ala1495=)
Yg.12812913T>CCA519895637USP9Yc.4470T>C (p.Ala1490=)
n.4482T>C
c.4236T>C (p.Ala1412=)
c.4485T>C (p.Ala1495=)
Yg.12812913T>GCA519895645USP9Yc.4470T>G (p.Ala1490=)
n.4482T>G
c.4236T>G (p.Ala1412=)
c.4485T>G (p.Ala1495=)
Yg.12812914A>CCA414992080USP9Yc.4471A>C (p.Ile1491Leu)
n.4483A>C
c.4237A>C (p.Ile1413Leu)
c.4486A>C (p.Ile1496Leu)
Yg.12812914A>GCA414992082USP9Yc.4471A>G (p.Ile1491Val)
n.4483A>G
c.4237A>G (p.Ile1413Val)
c.4486A>G (p.Ile1496Val)
Yg.12812914A>TCA414992083USP9Yc.4471A>T (p.Ile1491Phe)
n.4483A>T
c.4237A>T (p.Ile1413Phe)
c.4486A>T (p.Ile1496Phe)
Yg.12812915T>ACA10573327USP9Yc.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
Yg.12812915T>CCA414992089USP9Yc.4472T>C (p.Ile1491Thr)
n.4484T>C
c.4238T>C (p.Ile1413Thr)
c.4487T>C (p.Ile1496Thr)
Yg.12812915T>GCA414992092USP9Yc.4472T>G (p.Ile1491Ser)
n.4484T>G
c.4238T>G (p.Ile1413Ser)
c.4487T>G (p.Ile1496Ser)
Yg.12812915T=CA2470559344USP9Yc.4472T= (p.Ile1491=)
n.4484T=
c.4238T= (p.Ile1413=)
c.4487T= (p.Ile1496=)
Yg.12812916T>ACA519895671USP9Yc.4473T>A (p.Ile1491=)
n.4485T>A
c.4239T>A (p.Ile1413=)
c.4488T>A (p.Ile1496=)
Yg.12812916T>CCA519895674USP9Yc.4473T>C (p.Ile1491=)
n.4485T>C
c.4239T>C (p.Ile1413=)
c.4488T>C (p.Ile1496=)
Yg.12812916T>GCA414992095USP9Yc.4473T>G (p.Ile1491Met)
n.4485T>G
c.4239T>G (p.Ile1413Met)
c.4488T>G (p.Ile1496Met)
Yg.12812917C>ACA414992112USP9Yc.4474C>A (p.Pro1492Thr)
n.4486C>A
c.4240C>A (p.Pro1414Thr)
c.4489C>A (p.Pro1497Thr)
Yg.12812917C>GCA414992111USP9Yc.4474C>G (p.Pro1492Ala)
n.4486C>G
c.4240C>G (p.Pro1414Ala)
c.4489C>G (p.Pro1497Ala)
Yg.12812917C>TCA414992099USP9Yc.4474C>T (p.Pro1492Ser)
n.4486C>T
c.4240C>T (p.Pro1414Ser)
c.4489C>T (p.Pro1497Ser)
Yg.12812918C>ACA414992117USP9Yc.4475C>A (p.Pro1492Gln)
n.4487C>A
c.4241C>A (p.Pro1414Gln)
c.4490C>A (p.Pro1497Gln)
Yg.12812918C>GCA414992119USP9Yc.4475C>G (p.Pro1492Arg)
n.4487C>G
c.4241C>G (p.Pro1414Arg)
c.4490C>G (p.Pro1497Arg)
Yg.12812918C>TCA414992124USP9Yc.4475C>T (p.Pro1492Leu)
n.4487C>T
c.4241C>T (p.Pro1414Leu)
c.4490C>T (p.Pro1497Leu)
Yg.12812919A>CCA519895694USP9Yc.4476A>C (p.Pro1492=)
n.4488A>C
c.4242A>C (p.Pro1414=)
c.4491A>C (p.Pro1497=)
Yg.12812919A>GCA519895691USP9Yc.4476A>G (p.Pro1492=)
n.4488A>G
c.4242A>G (p.Pro1414=)
c.4491A>G (p.Pro1497=)
Yg.12812919A>TCA519895689USP9Yc.4476A>T (p.Pro1492=)
n.4488A>T
c.4242A>T (p.Pro1414=)
c.4491A>T (p.Pro1497=)
Yg.12812920G>ACA414992127USP9Yc.4477G>A (p.Val1493Ile)
n.4489G>A
c.4243G>A (p.Val1415Ile)
c.4492G>A (p.Val1498Ile)
Yg.12812920G>CCA414992132USP9Yc.4477G>C (p.Val1493Leu)
n.4489G>C
c.4243G>C (p.Val1415Leu)
c.4492G>C (p.Val1498Leu)
Yg.12812920G>TCA414992139USP9Yc.4477G>T (p.Val1493Phe)
n.4489G>T
c.4243G>T (p.Val1415Phe)
c.4492G>T (p.Val1498Phe)
Yg.12812921T>ACA414992143USP9Yc.4478T>A (p.Val1493Asp)
n.4490T>A
c.4244T>A (p.Val1415Asp)
c.4493T>A (p.Val1498Asp)
Yg.12812921T>CCA414992150USP9Yc.4478T>C (p.Val1493Ala)
n.4490T>C
c.4244T>C (p.Val1415Ala)
c.4493T>C (p.Val1498Ala)
Yg.12812921T>GCA414992152USP9Yc.4478T>G (p.Val1493Gly)
n.4490T>G
c.4244T>G (p.Val1415Gly)
c.4493T>G (p.Val1498Gly)
Yg.12812922C>ACA519895704USP9Yc.4479C>A (p.Val1493=)
n.4491C>A
c.4245C>A (p.Val1415=)
c.4494C>A (p.Val1498=)
Yg.12812922C>GCA519895706USP9Yc.4479C>G (p.Val1493=)
n.4491C>G
c.4245C>G (p.Val1415=)
c.4494C>G (p.Val1498=)
Yg.12812922C>TCA519895710USP9Yc.4479C>T (p.Val1493=)
n.4491C>T
c.4245C>T (p.Val1415=)
c.4494C>T (p.Val1498=)
Yg.12812923T>ACA414992155USP9Yc.4480T>A (p.Cys1494Ser)
n.4492T>A
c.4246T>A (p.Cys1416Ser)
c.4495T>A (p.Cys1499Ser)
Yg.12812923T>CCA414992156USP9Yc.4480T>C (p.Cys1494Arg)
n.4492T>C
c.4246T>C (p.Cys1416Arg)
c.4495T>C (p.Cys1499Arg)
Yg.12812923T>GCA414992158USP9Yc.4480T>G (p.Cys1494Gly)
n.4492T>G
c.4246T>G (p.Cys1416Gly)
c.4495T>G (p.Cys1499Gly)
Yg.12812924G>ACA414992170USP9Yc.4481G>A (p.Cys1494Tyr)
n.4493G>A
c.4247G>A (p.Cys1416Tyr)
c.4496G>A (p.Cys1499Tyr)
Yg.12812924G>CCA414992168USP9Yc.4481G>C (p.Cys1494Ser)
n.4493G>C
c.4247G>C (p.Cys1416Ser)
c.4496G>C (p.Cys1499Ser)
Yg.12812924G>TCA414992165USP9Yc.4481G>T (p.Cys1494Phe)
n.4493G>T
c.4247G>T (p.Cys1416Phe)
c.4496G>T (p.Cys1499Phe)
Yg.12812925T>ACA414992175USP9Yc.4482T>A (p.Cys1494Ter)
n.4494T>A
c.4248T>A (p.Cys1416Ter)
c.4497T>A (p.Cys1499Ter)
Yg.12812925T>CCA519895729USP9Yc.4482T>C (p.Cys1494=)
n.4494T>C
c.4248T>C (p.Cys1416=)
c.4497T>C (p.Cys1499=)
Yg.12812925T>GCA414992177USP9Yc.4482T>G (p.Cys1494Trp)
n.4494T>G
c.4248T>G (p.Cys1416Trp)
c.4497T>G (p.Cys1499Trp)
Yg.12812926A>CCA414992180USP9Yc.4483A>C (p.Ser1495Arg)
n.4495A>C
c.4249A>C (p.Ser1417Arg)
c.4498A>C (p.Ser1500Arg)
Yg.12812926A>GCA414992182USP9Yc.4483A>G (p.Ser1495Gly)
n.4495A>G
c.4249A>G (p.Ser1417Gly)
c.4498A>G (p.Ser1500Gly)
Yg.12812926A>TCA414992184USP9Yc.4483A>T (p.Ser1495Cys)
n.4495A>T
c.4249A>T (p.Ser1417Cys)
c.4498A>T (p.Ser1500Cys)
Yg.12812927G>ACA414992186USP9Yc.4484G>A (p.Ser1495Asn)
n.4496G>A
c.4250G>A (p.Ser1417Asn)
c.4499G>A (p.Ser1500Asn)
Yg.12812927G>CCA414992189USP9Yc.4484G>C (p.Ser1495Thr)
n.4496G>C
c.4250G>C (p.Ser1417Thr)
c.4499G>C (p.Ser1500Thr)
Yg.12812927G>TCA414992191USP9Yc.4484G>T (p.Ser1495Ile)
n.4496G>T
c.4250G>T (p.Ser1417Ile)
c.4499G>T (p.Ser1500Ile)
Yg.12812928T>ACA414992198USP9Yc.4485T>A (p.Ser1495Arg)
n.4497T>A
c.4251T>A (p.Ser1417Arg)
c.4500T>A (p.Ser1500Arg)
Yg.12812928T>CCA519895750USP9Yc.4485T>C (p.Ser1495=)
n.4497T>C
c.4251T>C (p.Ser1417=)
c.4500T>C (p.Ser1500=)
Yg.12812928T>GCA414992201USP9Yc.4485T>G (p.Ser1495Arg)
n.4497T>G
c.4251T>G (p.Ser1417Arg)
c.4500T>G (p.Ser1500Arg)
Yg.12812929T>ACA414992204USP9Yc.4486T>A (p.Ser1496Thr)
n.4498T>A
c.4252T>A (p.Ser1418Thr)
c.4501T>A (p.Ser1501Thr)
Yg.12812929T>CCA414992207USP9Yc.4486T>C (p.Ser1496Pro)
n.4498T>C
c.4252T>C (p.Ser1418Pro)
c.4501T>C (p.Ser1501Pro)
Yg.12812929T>GCA414992211USP9Yc.4486T>G (p.Ser1496Ala)
n.4498T>G
c.4252T>G (p.Ser1418Ala)
c.4501T>G (p.Ser1501Ala)
Yg.12812930C>ACA414992221USP9Yc.4487C>A (p.Ser1496Ter)
n.4499C>A
c.4253C>A (p.Ser1418Ter)
c.4502C>A (p.Ser1501Ter)
Yg.12812930C>GCA414992214USP9Yc.4487C>G (p.Ser1496Ter)
n.4499C>G
c.4253C>G (p.Ser1418Ter)
c.4502C>G (p.Ser1501Ter)
Yg.12812930C>TCA414992218USP9Yc.4487C>T (p.Ser1496Leu)
n.4499C>T
c.4253C>T (p.Ser1418Leu)
c.4502C>T (p.Ser1501Leu)
Yg.12812931A=CA2470559345USP9Yc.4488A= (p.Ser1496=)
n.4500A=
c.4254A= (p.Ser1418=)
c.4503A= (p.Ser1501=)
Yg.12812931A>CCA519895770USP9Yc.4488A>C (p.Ser1496=)
n.4500A>C
c.4254A>C (p.Ser1418=)
c.4503A>C (p.Ser1501=)
Yg.12812931A>GCA519895771USP9Yc.4488A>G (p.Ser1496=)
n.4500A>G
c.4254A>G (p.Ser1418=)
c.4503A>G (p.Ser1501=)
Yg.12812931A>TCA10573328USP9Yc.4488A>T (p.Ser1496=)
n.4500A>T
c.4254A>T (p.Ser1418=)
c.4503A>T (p.Ser1501=)
dbSNP ExAC gnomAD v2
Yg.12812932C>ACA414992226USP9Yc.4489C>A (p.Pro1497Thr)
n.4501C>A
c.4255C>A (p.Pro1419Thr)
c.4504C>A (p.Pro1502Thr)
Yg.12812932C>GCA414992228USP9Yc.4489C>G (p.Pro1497Ala)
n.4501C>G
c.4255C>G (p.Pro1419Ala)
c.4504C>G (p.Pro1502Ala)
Yg.12812932C>TCA414992232USP9Yc.4489C>T (p.Pro1497Ser)
n.4501C>T
c.4255C>T (p.Pro1419Ser)
c.4504C>T (p.Pro1502Ser)
Yg.12812933C>ACA414992233USP9Yc.4490C>A (p.Pro1497His)
n.4502C>A
c.4256C>A (p.Pro1419His)
c.4505C>A (p.Pro1502His)
Yg.12812933C>GCA414992234USP9Yc.4490C>G (p.Pro1497Arg)
n.4502C>G
c.4256C>G (p.Pro1419Arg)
c.4505C>G (p.Pro1502Arg)
Yg.12812933C>TCA414992235USP9Yc.4490C>T (p.Pro1497Leu)
n.4502C>T
c.4256C>T (p.Pro1419Leu)
c.4505C>T (p.Pro1502Leu)
Yg.12812934C>ACA519895781USP9Yc.4491C>A (p.Pro1497=)
n.4503C>A
c.4257C>A (p.Pro1419=)
c.4506C>A (p.Pro1502=)
Yg.12812934C=CA2470559346USP9Yc.4491C= (p.Pro1497=)
n.4503C=
c.4257C= (p.Pro1419=)
c.4506C= (p.Pro1502=)
Yg.12812934C>GCA519895782USP9Yc.4491C>G (p.Pro1497=)
n.4503C>G
c.4257C>G (p.Pro1419=)
c.4506C>G (p.Pro1502=)
Yg.12812934C>TCA10573329USP9Yc.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
Yg.12812935G>ACA10573330USP9Yc.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
Yg.12812935G>CCA414992240USP9Yc.4492G>C (p.Val1498Leu)
n.4504G>C
c.4258G>C (p.Val1420Leu)
c.4507G>C (p.Val1503Leu)
Yg.12812935G=CA2470559347USP9Yc.4492G= (p.Val1498=)
n.4504G=
c.4258G= (p.Val1420=)
c.4507G= (p.Val1503=)
Yg.12812935G>TCA414992243USP9Yc.4492G>T (p.Val1498Phe)
n.4504G>T
c.4258G>T (p.Val1420Phe)
c.4507G>T (p.Val1503Phe)
Yg.12812936T>ACA414992246USP9Yc.4493T>A (p.Val1498Asp)
n.4505T>A
c.4259T>A (p.Val1420Asp)
c.4508T>A (p.Val1503Asp)
Yg.12812936T>CCA414992253USP9Yc.4493T>C (p.Val1498Ala)
n.4505T>C
c.4259T>C (p.Val1420Ala)
c.4508T>C (p.Val1503Ala)
Yg.12812936T>GCA414992251USP9Yc.4493T>G (p.Val1498Gly)
n.4505T>G
c.4259T>G (p.Val1420Gly)
c.4508T>G (p.Val1503Gly)
Yg.12812937T>ACA519895794USP9Yc.4494T>A (p.Val1498=)
n.4506T>A
c.4260T>A (p.Val1420=)
c.4509T>A (p.Val1503=)
Yg.12812937T>CCA519895801USP9Yc.4494T>C (p.Val1498=)
n.4506T>C
c.4260T>C (p.Val1420=)
c.4509T>C (p.Val1503=)
Yg.12812937T>GCA519895797USP9Yc.4494T>G (p.Val1498=)
n.4506T>G
c.4260T>G (p.Val1420=)
c.4509T>G (p.Val1503=)
Yg.12812938A>CCA414992256USP9Yc.4495A>C (p.Thr1499Pro)
n.4507A>C
c.4261A>C (p.Thr1421Pro)
c.4510A>C (p.Thr1504Pro)
Yg.12812938A>GCA414992257USP9Yc.4495A>G (p.Thr1499Ala)
n.4507A>G
c.4261A>G (p.Thr1421Ala)
c.4510A>G (p.Thr1504Ala)
Yg.12812938A>TCA414992261USP9Yc.4495A>T (p.Thr1499Ser)
n.4507A>T
c.4261A>T (p.Thr1421Ser)
c.4510A>T (p.Thr1504Ser)
Yg.12812939C>ACA414992264USP9Yc.4496C>A (p.Thr1499Asn)
n.4508C>A
c.4262C>A (p.Thr1421Asn)
c.4511C>A (p.Thr1504Asn)
Yg.12812939C>GCA414992266USP9Yc.4496C>G (p.Thr1499Ser)
n.4508C>G
c.4262C>G (p.Thr1421Ser)
c.4511C>G (p.Thr1504Ser)
Yg.12812939C>TCA414992267USP9Yc.4496C>T (p.Thr1499Ile)
n.4508C>T
c.4262C>T (p.Thr1421Ile)
c.4511C>T (p.Thr1504Ile)
Yg.12812940delCA2579747982USP9Yc.4497del (p.Ile1500SerfsTer9)
n.4509del
c.4263del (p.Ile1422SerfsTer9)
c.4512del (p.Ile1505SerfsTer9)
Yg.12812940C>ACA519895820USP9Yc.4497C>A (p.Thr1499=)
n.4509C>A
c.4263C>A (p.Thr1421=)
c.4512C>A (p.Thr1504=)
Yg.12812940C>GCA519895822USP9Yc.4497C>G (p.Thr1499=)
n.4509C>G
c.4263C>G (p.Thr1421=)
c.4512C>G (p.Thr1504=)
Yg.12812940C>TCA519895826USP9Yc.4497C>T (p.Thr1499=)
n.4509C>T
c.4263C>T (p.Thr1421=)
c.4512C>T (p.Thr1504=)
Yg.12812941A=CA2470559348USP9Yc.4498A= (p.Ile1500=)
n.4510A=
c.4264A= (p.Ile1422=)
c.4513A= (p.Ile1505=)
Yg.12812941A>CCA414992270USP9Yc.4498A>C (p.Ile1500Leu)
n.4510A>C
c.4264A>C (p.Ile1422Leu)
c.4513A>C (p.Ile1505Leu)
Yg.12812941A>GCA414992274USP9Yc.4498A>G (p.Ile1500Val)
n.4510A>G
c.4264A>G (p.Ile1422Val)
c.4513A>G (p.Ile1505Val)
dbSNP gnomAD v2
Yg.12812941A>TCA414992278USP9Yc.4498A>T (p.Ile1500Phe)
n.4510A>T
c.4264A>T (p.Ile1422Phe)
c.4513A>T (p.Ile1505Phe)
Yg.12812942T>ACA414992281USP9Yc.4499T>A (p.Ile1500Asn)
n.4511T>A
c.4265T>A (p.Ile1422Asn)
c.4514T>A (p.Ile1505Asn)
Yg.12812942T>CCA414992284USP9Yc.4499T>C (p.Ile1500Thr)
n.4511T>C
c.4265T>C (p.Ile1422Thr)
c.4514T>C (p.Ile1505Thr)
Yg.12812942T>GCA414992287USP9Yc.4499T>G (p.Ile1500Ser)
n.4511T>G
c.4265T>G (p.Ile1422Ser)
c.4514T>G (p.Ile1505Ser)
Yg.12812943C>ACA519895857USP9Yc.4500C>A (p.Ile1500=)
n.4512C>A
c.4266C>A (p.Ile1422=)
c.4515C>A (p.Ile1505=)
Yg.12812943C>GCA414992290USP9Yc.4500C>G (p.Ile1500Met)
n.4512C>G
c.4266C>G (p.Ile1422Met)
c.4515C>G (p.Ile1505Met)
Yg.12812943C>TCA519895863USP9Yc.4500C>T (p.Ile1500=)
n.4512C>T
c.4266C>T (p.Ile1422=)
c.4515C>T (p.Ile1505=)
gnomAD v3 gnomAD v4
Yg.12812944A>CCA414992296USP9Yc.4501A>C (p.Asn1501His)
n.4513A>C
c.4267A>C (p.Asn1423His)
c.4516A>C (p.Asn1506His)
Yg.12812944A>GCA414992298USP9Yc.4501A>G (p.Asn1501Asp)
n.4513A>G
c.4267A>G (p.Asn1423Asp)
c.4516A>G (p.Asn1506Asp)
Yg.12812944A>TCA414992305USP9Yc.4501A>T (p.Asn1501Tyr)
n.4513A>T
c.4267A>T (p.Asn1423Tyr)
c.4516A>T (p.Asn1506Tyr)
Yg.12812945A>CCA414992307USP9Yc.4502A>C (p.Asn1501Thr)
n.4514A>C
c.4268A>C (p.Asn1423Thr)
c.4517A>C (p.Asn1506Thr)
Yg.12812945A>GCA414992310USP9Yc.4502A>G (p.Asn1501Ser)
n.4514A>G
c.4268A>G (p.Asn1423Ser)
c.4517A>G (p.Asn1506Ser)
Yg.12812945A>TCA414992312USP9Yc.4502A>T (p.Asn1501Ile)
n.4514A>T
c.4268A>T (p.Asn1423Ile)
c.4517A>T (p.Asn1506Ile)
Yg.12812946T>ACA414992315USP9Yc.4503T>A (p.Asn1501Lys)
n.4515T>A
c.4269T>A (p.Asn1423Lys)
c.4518T>A (p.Asn1506Lys)
Yg.12812946T>CCA519895889USP9Yc.4503T>C (p.Asn1501=)
n.4515T>C
c.4269T>C (p.Asn1423=)
c.4518T>C (p.Asn1506=)
Yg.12812946T>GCA414992316USP9Yc.4503T>G (p.Asn1501Lys)
n.4515T>G
c.4269T>G (p.Asn1423Lys)
c.4518T>G (p.Asn1506Lys)
Yg.12812947G>ACA414992320USP9Yc.4504G>A (p.Ala1502Thr)
n.4516G>A
c.4270G>A (p.Ala1424Thr)
c.4519G>A (p.Ala1507Thr)
Yg.12812947G>CCA414992323USP9Yc.4504G>C (p.Ala1502Pro)
n.4516G>C
c.4270G>C (p.Ala1424Pro)
c.4519G>C (p.Ala1507Pro)
Yg.12812947G>TCA414992325USP9Yc.4504G>T (p.Ala1502Ser)
n.4516G>T
c.4270G>T (p.Ala1424Ser)
c.4519G>T (p.Ala1507Ser)
Yg.12812948C>ACA414992332USP9Yc.4505C>A (p.Ala1502Asp)
n.4517C>A
c.4271C>A (p.Ala1424Asp)
c.4520C>A (p.Ala1507Asp)
Yg.12812948C>GCA414992329USP9Yc.4505C>G (p.Ala1502Gly)
n.4517C>G
c.4271C>G (p.Ala1424Gly)
c.4520C>G (p.Ala1507Gly)
Yg.12812948C>TCA414992328USP9Yc.4505C>T (p.Ala1502Val)
n.4517C>T
c.4271C>T (p.Ala1424Val)
c.4520C>T (p.Ala1507Val)
Yg.12812949C>ACA519895921USP9Yc.4506C>A (p.Ala1502=)
n.4518C>A
c.4272C>A (p.Ala1424=)
c.4521C>A (p.Ala1507=)
Yg.12812949C>GCA519895923USP9Yc.4506C>G (p.Ala1502=)
n.4518C>G
c.4272C>G (p.Ala1424=)
c.4521C>G (p.Ala1507=)
Yg.12812949C>TCA519895926USP9Yc.4506C>T (p.Ala1502=)
n.4518C>T
c.4272C>T (p.Ala1424=)
c.4521C>T (p.Ala1507=)
Yg.12812950G>ACA414992335USP9Yc.4507G>A (p.Gly1503Ser)
n.4519G>A
c.4273G>A (p.Gly1425Ser)
c.4522G>A (p.Gly1508Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12812950G>CCA414992340USP9Yc.4507G>C (p.Gly1503Arg)
n.4519G>C
c.4273G>C (p.Gly1425Arg)
c.4522G>C (p.Gly1508Arg)
Yg.12812950G=CA2470559349USP9Yc.4507G= (p.Gly1503=)
n.4519G=
c.4273G= (p.Gly1425=)
c.4522G= (p.Gly1508=)
Yg.12812950G>TCA414992337USP9Yc.4507G>T (p.Gly1503Cys)
n.4519G>T
c.4273G>T (p.Gly1425Cys)
c.4522G>T (p.Gly1508Cys)
Yg.12812951G>ACA414992343USP9Yc.4508G>A (p.Gly1503Asp)
n.4520G>A
c.4274G>A (p.Gly1425Asp)
c.4523G>A (p.Gly1508Asp)
Yg.12812951G>CCA414992349USP9Yc.4508G>C (p.Gly1503Ala)
n.4520G>C
c.4274G>C (p.Gly1425Ala)
c.4523G>C (p.Gly1508Ala)
Yg.12812951G>TCA414992346USP9Yc.4508G>T (p.Gly1503Val)
n.4520G>T
c.4274G>T (p.Gly1425Val)
c.4523G>T (p.Gly1508Val)
Yg.12812952T>ACA519895942USP9Yc.4509T>A (p.Gly1503=)
n.4521T>A
c.4275T>A (p.Gly1425=)
c.4524T>A (p.Gly1508=)
Yg.12812952T>CCA519895950USP9Yc.4509T>C (p.Gly1503=)
n.4521T>C
c.4275T>C (p.Gly1425=)
c.4524T>C (p.Gly1508=)
Yg.12812952T>GCA519895953USP9Yc.4509T>G (p.Gly1503=)
n.4521T>G
c.4275T>G (p.Gly1425=)
c.4524T>G (p.Gly1508=)
Yg.12812953T>ACA414992351USP9Yc.4510T>A (p.Phe1504Ile)
n.4522T>A
c.4276T>A (p.Phe1426Ile)
c.4525T>A (p.Phe1509Ile)
Yg.12812953T>CCA414992352USP9Yc.4510T>C (p.Phe1504Leu)
n.4522T>C
c.4276T>C (p.Phe1426Leu)
c.4525T>C (p.Phe1509Leu)
Yg.12812953T>GCA414992354USP9Yc.4510T>G (p.Phe1504Val)
n.4522T>G
c.4276T>G (p.Phe1426Val)
c.4525T>G (p.Phe1509Val)
Yg.12812954T>ACA414992359USP9Yc.4511T>A (p.Phe1504Tyr)
n.4523T>A
c.4277T>A (p.Phe1426Tyr)
c.4526T>A (p.Phe1509Tyr)
Yg.12812954T>CCA414992362USP9Yc.4511T>C (p.Phe1504Ser)
n.4523T>C
c.4277T>C (p.Phe1426Ser)
c.4526T>C (p.Phe1509Ser)
Yg.12812954T>GCA414992365USP9Yc.4511T>G (p.Phe1504Cys)
n.4523T>G
c.4277T>G (p.Phe1426Cys)
c.4526T>G (p.Phe1509Cys)
Yg.12812955T>ACA414992369USP9Yc.4512T>A (p.Phe1504Leu)
n.4524T>A
c.4278T>A (p.Phe1426Leu)
c.4527T>A (p.Phe1509Leu)
Yg.12812955T>CCA519895959USP9Yc.4512T>C (p.Phe1504=)
n.4524T>C
c.4278T>C (p.Phe1426=)
c.4527T>C (p.Phe1509=)
Yg.12812955T>GCA414992372USP9Yc.4512T>G (p.Phe1504Leu)
n.4524T>G
c.4278T>G (p.Phe1426Leu)
c.4527T>G (p.Phe1509Leu)
Yg.12812956G>ACA414992377USP9Yc.4513G>A (p.Glu1505Lys)
n.4525G>A
c.4279G>A (p.Glu1427Lys)
c.4528G>A (p.Glu1510Lys)
Yg.12812956G>CCA414992385USP9Yc.4513G>C (p.Glu1505Gln)
n.4525G>C
c.4279G>C (p.Glu1427Gln)
c.4528G>C (p.Glu1510Gln)
Yg.12812956G>TCA414992387USP9Yc.4513G>T (p.Glu1505Ter)
n.4525G>T
c.4279G>T (p.Glu1427Ter)
c.4528G>T (p.Glu1510Ter)
Yg.12812957A>CCA414992390USP9Yc.4514A>C (p.Glu1505Ala)
n.4526A>C
c.4280A>C (p.Glu1427Ala)
c.4529A>C (p.Glu1510Ala)
Yg.12812957A>GCA414992397USP9Yc.4514A>G (p.Glu1505Gly)
n.4526A>G
c.4280A>G (p.Glu1427Gly)
c.4529A>G (p.Glu1510Gly)
Yg.12812957A>TCA414992394USP9Yc.4514A>T (p.Glu1505Val)
n.4526A>T
c.4280A>T (p.Glu1427Val)
c.4529A>T (p.Glu1510Val)
Yg.12812958G>ACA519895985USP9Yc.4515G>A (p.Glu1505=)
n.4527G>A
c.4281G>A (p.Glu1427=)
c.4530G>A (p.Glu1510=)
Yg.12812958G>CCA414992401USP9Yc.4515G>C (p.Glu1505Asp)
n.4527G>C
c.4281G>C (p.Glu1427Asp)
c.4530G>C (p.Glu1510Asp)
Yg.12812958G>TCA414992403USP9Yc.4515G>T (p.Glu1505Asp)
n.4527G>T
c.4281G>T (p.Glu1427Asp)
c.4530G>T (p.Glu1510Asp)
Yg.12812959C>ACA414992406USP9Yc.4516C>A (p.Leu1506Ile)
n.4528C>A
c.4282C>A (p.Leu1428Ile)
c.4531C>A (p.Leu1511Ile)
Yg.12812959C>GCA414992408USP9Yc.4516C>G (p.Leu1506Val)
n.4528C>G
c.4282C>G (p.Leu1428Val)
c.4531C>G (p.Leu1511Val)
Yg.12812959C>TCA519895993USP9Yc.4516C>T (p.Leu1506=)
n.4528C>T
c.4282C>T (p.Leu1428=)
c.4531C>T (p.Leu1511=)
Yg.12812960T>ACA414992411USP9Yc.4517T>A (p.Leu1506Gln)
n.4529T>A
c.4283T>A (p.Leu1428Gln)
c.4532T>A (p.Leu1511Gln)
Yg.12812960T>CCA414992414USP9Yc.4517T>C (p.Leu1506Pro)
n.4529T>C
c.4283T>C (p.Leu1428Pro)
c.4532T>C (p.Leu1511Pro)
Yg.12812960T>GCA414992416USP9Yc.4517T>G (p.Leu1506Arg)
n.4529T>G
c.4283T>G (p.Leu1428Arg)
c.4532T>G (p.Leu1511Arg)
Yg.12812961A=CA2470559350USP9Yc.4518A= (p.Leu1506=)
n.4530A=
c.4284A= (p.Leu1428=)
c.4533A= (p.Leu1511=)
Yg.12812961A>CCA10573331USP9Yc.4518A>C (p.Leu1506=)
n.4530A>C
c.4284A>C (p.Leu1428=)
c.4533A>C (p.Leu1511=)
dbSNP ExAC gnomAD v2
Yg.12812961A>GCA519896001USP9Yc.4518A>G (p.Leu1506=)
n.4530A>G
c.4284A>G (p.Leu1428=)
c.4533A>G (p.Leu1511=)
Yg.12812961A>TCA519896004USP9Yc.4518A>T (p.Leu1506=)
n.4530A>T
c.4284A>T (p.Leu1428=)
c.4533A>T (p.Leu1511=)
Yg.12812961dupCA2766241862USP9Yc.4518dup (p.Leu1507ThrfsTer21)
n.4530dup
c.4284dup (p.Leu1429ThrfsTer21)
c.4533dup (p.Leu1512ThrfsTer21)
Yg.12812962C>ACA414992418USP9Yc.4519C>A (p.Leu1507Ile)
n.4531C>A
c.4285C>A (p.Leu1429Ile)
c.4534C>A (p.Leu1512Ile)
Yg.12812962C>GCA414992420USP9Yc.4519C>G (p.Leu1507Val)
n.4531C>G
c.4285C>G (p.Leu1429Val)
c.4534C>G (p.Leu1512Val)
Yg.12812962C>TCA414992417USP9Yc.4519C>T (p.Leu1507Phe)
n.4531C>T
c.4285C>T (p.Leu1429Phe)
c.4534C>T (p.Leu1512Phe)
Yg.12812963T>ACA414992424USP9Yc.4520T>A (p.Leu1507His)
n.4532T>A
c.4286T>A (p.Leu1429His)
c.4535T>A (p.Leu1512His)
Yg.12812963T>CCA414992427USP9Yc.4520T>C (p.Leu1507Pro)
n.4532T>C
c.4286T>C (p.Leu1429Pro)
c.4535T>C (p.Leu1512Pro)
Yg.12812963T>GCA414992428USP9Yc.4520T>G (p.Leu1507Arg)
n.4532T>G
c.4286T>G (p.Leu1429Arg)
c.4535T>G (p.Leu1512Arg)
Yg.12812964T>ACA519896020USP9Yc.4521T>A (p.Leu1507=)
n.4533T>A
c.4287T>A (p.Leu1429=)
c.4536T>A (p.Leu1512=)
Yg.12812964T>CCA519896021USP9Yc.4521T>C (p.Leu1507=)
n.4533T>C
c.4287T>C (p.Leu1429=)
c.4536T>C (p.Leu1512=)
Yg.12812964T>GCA519896024USP9Yc.4521T>G (p.Leu1507=)
n.4533T>G
c.4287T>G (p.Leu1429=)
c.4536T>G (p.Leu1512=)
Yg.12812965G>ACA414992431USP9Yc.4522G>A (p.Val1508Ile)
n.4534G>A
c.4288G>A (p.Val1430Ile)
c.4537G>A (p.Val1513Ile)
Yg.12812965G>CCA414992434USP9Yc.4522G>C (p.Val1508Leu)
n.4534G>C
c.4288G>C (p.Val1430Leu)
c.4537G>C (p.Val1513Leu)
Yg.12812965G>TCA414992438USP9Yc.4522G>T (p.Val1508Leu)
n.4534G>T
c.4288G>T (p.Val1430Leu)
c.4537G>T (p.Val1513Leu)
Yg.12812966T>ACA414992441USP9Yc.4523T>A (p.Val1508Glu)
n.4535T>A
c.4289T>A (p.Val1430Glu)
c.4538T>A (p.Val1513Glu)
Yg.12812966T>CCA414992445USP9Yc.4523T>C (p.Val1508Ala)
n.4535T>C
c.4289T>C (p.Val1430Ala)
c.4538T>C (p.Val1513Ala)
Yg.12812966T>GCA414992446USP9Yc.4523T>G (p.Val1508Gly)
n.4535T>G
c.4289T>G (p.Val1430Gly)
c.4538T>G (p.Val1513Gly)
Yg.12812967A>CCA519896057USP9Yc.4524A>C (p.Val1508=)
n.4536A>C
c.4290A>C (p.Val1430=)
c.4539A>C (p.Val1513=)
Yg.12812967A>GCA519896051USP9Yc.4524A>G (p.Val1508=)
n.4536A>G
c.4290A>G (p.Val1430=)
c.4539A>G (p.Val1513=)
Yg.12812967A>TCA519896048USP9Yc.4524A>T (p.Val1508=)
n.4536A>T
c.4290A>T (p.Val1430=)
c.4539A>T (p.Val1513=)
Yg.12812968G>ACA10573332USP9Yc.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
Yg.12812968G>CCA414992448USP9Yc.4525G>C (p.Ala1509Pro)
n.4537G>C
c.4291G>C (p.Ala1431Pro)
c.4540G>C (p.Ala1514Pro)
Yg.12812968G=CA2470559351USP9Yc.4525G= (p.Ala1509=)
n.4537G=
c.4291G= (p.Ala1431=)
c.4540G= (p.Ala1514=)
Yg.12812968G>TCA414992449USP9Yc.4525G>T (p.Ala1509Ser)
n.4537G>T
c.4291G>T (p.Ala1431Ser)
c.4540G>T (p.Ala1514Ser)
Yg.12812969C>ACA414992451USP9Yc.4526C>A (p.Ala1509Glu)
n.4538C>A
c.4292C>A (p.Ala1431Glu)
c.4541C>A (p.Ala1514Glu)
Yg.12812969C>GCA414992456USP9Yc.4526C>G (p.Ala1509Gly)
n.4538C>G
c.4292C>G (p.Ala1431Gly)
c.4541C>G (p.Ala1514Gly)
Yg.12812969C>TCA414992453USP9Yc.4526C>T (p.Ala1509Val)
n.4538C>T
c.4292C>T (p.Ala1431Val)
c.4541C>T (p.Ala1514Val)
Yg.12812970A>CCA519896075USP9Yc.4527A>C (p.Ala1509=)
n.4539A>C
c.4293A>C (p.Ala1431=)
c.4542A>C (p.Ala1514=)
Yg.12812970A>GCA519896077USP9Yc.4527A>G (p.Ala1509=)
n.4539A>G
c.4293A>G (p.Ala1431=)
c.4542A>G (p.Ala1514=)
Yg.12812970A>TCA519896079USP9Yc.4527A>T (p.Ala1509=)
n.4539A>T
c.4293A>T (p.Ala1431=)
c.4542A>T (p.Ala1514=)
Yg.12812971T>ACA414992459USP9Yc.4528T>A (p.Leu1510Ile)
n.4540T>A
c.4294T>A (p.Leu1432Ile)
c.4543T>A (p.Leu1515Ile)
Yg.12812971T>CCA519896084USP9Yc.4528T>C (p.Leu1510=)
n.4540T>C
c.4294T>C (p.Leu1432=)
c.4543T>C (p.Leu1515=)
Yg.12812971T>GCA414992462USP9Yc.4528T>G (p.Leu1510Val)
n.4540T>G
c.4294T>G (p.Leu1432Val)
c.4543T>G (p.Leu1515Val)
Yg.12812972T>ACA414992466USP9Yc.4529T>A (p.Leu1510Ter)
n.4541T>A
c.4295T>A (p.Leu1432Ter)
c.4544T>A (p.Leu1515Ter)
Yg.12812972T>CCA414992469USP9Yc.4529T>C (p.Leu1510Ser)
n.4541T>C
c.4295T>C (p.Leu1432Ser)
c.4544T>C (p.Leu1515Ser)
Yg.12812972T>GCA414992471USP9Yc.4529T>G (p.Leu1510Ter)
n.4541T>G
c.4295T>G (p.Leu1432Ter)
c.4544T>G (p.Leu1515Ter)
Yg.12812973A>CCA414992472USP9Yc.4530A>C (p.Leu1510Phe)
n.4542A>C
c.4296A>C (p.Leu1432Phe)
c.4545A>C (p.Leu1515Phe)
Yg.12812973A>GCA519896096USP9Yc.4530A>G (p.Leu1510=)
n.4542A>G
c.4296A>G (p.Leu1432=)
c.4545A>G (p.Leu1515=)
Yg.12812973A>TCA414992474USP9Yc.4530A>T (p.Leu1510Phe)
n.4542A>T
c.4296A>T (p.Leu1432Phe)
c.4545A>T (p.Leu1515Phe)
Yg.12812974G>ACA414992476USP9Yc.4531G>A (p.Ala1511Thr)
n.4543G>A
c.4297G>A (p.Ala1433Thr)
c.4546G>A (p.Ala1516Thr)
Yg.12812974G>CCA414992478USP9Yc.4531G>C (p.Ala1511Pro)
n.4543G>C
c.4297G>C (p.Ala1433Pro)
c.4546G>C (p.Ala1516Pro)
Yg.12812974G>TCA414992480USP9Yc.4531G>T (p.Ala1511Ser)
n.4543G>T
c.4297G>T (p.Ala1433Ser)
c.4546G>T (p.Ala1516Ser)
Yg.12812975C>ACA414992491USP9Yc.4532C>A (p.Ala1511Asp)
n.4544C>A
c.4298C>A (p.Ala1433Asp)
c.4547C>A (p.Ala1516Asp)
Yg.12812975C>GCA414992489USP9Yc.4532C>G (p.Ala1511Gly)
n.4544C>G
c.4298C>G (p.Ala1433Gly)
c.4547C>G (p.Ala1516Gly)
Yg.12812975C>TCA414992486USP9Yc.4532C>T (p.Ala1511Val)
n.4544C>T
c.4298C>T (p.Ala1433Val)
c.4547C>T (p.Ala1516Val)
Yg.12812976T>ACA519896131USP9Yc.4533T>A (p.Ala1511=)
n.4545T>A
c.4299T>A (p.Ala1433=)
c.4548T>A (p.Ala1516=)
Yg.12812976T>CCA519896133USP9Yc.4533T>C (p.Ala1511=)
n.4545T>C
c.4299T>C (p.Ala1433=)
c.4548T>C (p.Ala1516=)
Yg.12812976T>GCA519896136USP9Yc.4533T>G (p.Ala1511=)
n.4545T>G
c.4299T>G (p.Ala1433=)
c.4548T>G (p.Ala1516=)
Yg.12812977A>CCA414992493USP9Yc.4534A>C (p.Ile1512Leu)
n.4546A>C
c.4300A>C (p.Ile1434Leu)
c.4549A>C (p.Ile1517Leu)
Yg.12812977A>GCA414992496USP9Yc.4534A>G (p.Ile1512Val)
n.4546A>G
c.4300A>G (p.Ile1434Val)
c.4549A>G (p.Ile1517Val)
Yg.12812977A>TCA414992495USP9Yc.4534A>T (p.Ile1512Phe)
n.4546A>T
c.4300A>T (p.Ile1434Phe)
c.4549A>T (p.Ile1517Phe)
Yg.12812978T>ACA414992504USP9Yc.4535T>A (p.Ile1512Asn)
n.4547T>A
c.4301T>A (p.Ile1434Asn)
c.4550T>A (p.Ile1517Asn)
Yg.12812978T>CCA414992507USP9Yc.4535T>C (p.Ile1512Thr)
n.4547T>C
c.4301T>C (p.Ile1434Thr)
c.4550T>C (p.Ile1517Thr)
Yg.12812978T>GCA414992512USP9Yc.4535T>G (p.Ile1512Ser)
n.4547T>G
c.4301T>G (p.Ile1434Ser)
c.4550T>G (p.Ile1517Ser)
Yg.12812979T>ACA519896148USP9Yc.4536T>A (p.Ile1512=)
n.4548T>A
c.4302T>A (p.Ile1434=)
c.4551T>A (p.Ile1517=)
Yg.12812979T>CCA519896150USP9Yc.4536T>C (p.Ile1512=)
n.4548T>C
c.4302T>C (p.Ile1434=)
c.4551T>C (p.Ile1517=)
Yg.12812979T>GCA414992514USP9Yc.4536T>G (p.Ile1512Met)
n.4548T>G
c.4302T>G (p.Ile1434Met)
c.4551T>G (p.Ile1517Met)
Yg.12812980G>ACA414992516USP9Yc.4537G>A (p.Gly1513Ser)
n.4549G>A
c.4303G>A (p.Gly1435Ser)
c.4552G>A (p.Gly1518Ser)
Yg.12812980G>CCA414992519USP9Yc.4537G>C (p.Gly1513Arg)
n.4549G>C
c.4303G>C (p.Gly1435Arg)
c.4552G>C (p.Gly1518Arg)
Yg.12812980G>TCA414992523USP9Yc.4537G>T (p.Gly1513Cys)
n.4549G>T
c.4303G>T (p.Gly1435Cys)
c.4552G>T (p.Gly1518Cys)
Yg.12812981G>ACA414992534USP9Yc.4538G>A (p.Gly1513Asp)
n.4550G>A
c.4304G>A (p.Gly1435Asp)
c.4553G>A (p.Gly1518Asp)
Yg.12812981G>CCA414992537USP9Yc.4538G>C (p.Gly1513Ala)
n.4550G>C
c.4304G>C (p.Gly1435Ala)
c.4553G>C (p.Gly1518Ala)
Yg.12812981G>TCA414992541USP9Yc.4538G>T (p.Gly1513Val)
n.4550G>T
c.4304G>T (p.Gly1435Val)
c.4553G>T (p.Gly1518Val)
Yg.12812982C>ACA519896159USP9Yc.4539C>A (p.Gly1513=)
n.4551C>A
c.4305C>A (p.Gly1435=)
c.4554C>A (p.Gly1518=)
Yg.12812982C>GCA519896161USP9Yc.4539C>G (p.Gly1513=)
n.4551C>G
c.4305C>G (p.Gly1435=)
c.4554C>G (p.Gly1518=)
Yg.12812982C>TCA519896163USP9Yc.4539C>T (p.Gly1513=)
n.4551C>T
c.4305C>T (p.Gly1435=)
c.4554C>T (p.Gly1518=)
Yg.12812983T>ACA414992550USP9Yc.4540T>A (p.Cys1514Ser)
n.4552T>A
c.4306T>A (p.Cys1436Ser)
c.4555T>A (p.Cys1519Ser)
Yg.12812983T>CCA414992547USP9Yc.4540T>C (p.Cys1514Arg)
n.4552T>C
c.4306T>C (p.Cys1436Arg)
c.4555T>C (p.Cys1519Arg)
Yg.12812983T>GCA414992545USP9Yc.4540T>G (p.Cys1514Gly)
n.4552T>G
c.4306T>G (p.Cys1436Gly)
c.4555T>G (p.Cys1519Gly)
Yg.12812984G>ACA414992552USP9Yc.4541G>A (p.Cys1514Tyr)
n.4553G>A
c.4307G>A (p.Cys1436Tyr)
c.4556G>A (p.Cys1519Tyr)
Yg.12812984G>CCA414992558USP9Yc.4541G>C (p.Cys1514Ser)
n.4553G>C
c.4307G>C (p.Cys1436Ser)
c.4556G>C (p.Cys1519Ser)
Yg.12812984G>TCA414992559USP9Yc.4541G>T (p.Cys1514Phe)
n.4553G>T
c.4307G>T (p.Cys1436Phe)
c.4556G>T (p.Cys1519Phe)
Yg.12812985T>ACA414992561USP9Yc.4542T>A (p.Cys1514Ter)
n.4554T>A
c.4308T>A (p.Cys1436Ter)
c.4557T>A (p.Cys1519Ter)
Yg.12812985T>CCA519896206USP9Yc.4542T>C (p.Cys1514=)
n.4554T>C
c.4308T>C (p.Cys1436=)
c.4557T>C (p.Cys1519=)
Yg.12812985T>GCA414992563USP9Yc.4542T>G (p.Cys1514Trp)
n.4554T>G
c.4308T>G (p.Cys1436Trp)
c.4557T>G (p.Cys1519Trp)
Yg.12812986G>ACA414992566USP9Yc.4543G>A (p.Val1515Met)
n.4555G>A
c.4309G>A (p.Val1437Met)
c.4558G>A (p.Val1520Met)
gnomAD v3 gnomAD v4
Yg.12812986G>CCA414992568USP9Yc.4543G>C (p.Val1515Leu)
n.4555G>C
c.4309G>C (p.Val1437Leu)
c.4558G>C (p.Val1520Leu)
Yg.12812986G>TCA414992570USP9Yc.4543G>T (p.Val1515Leu)
n.4555G>T
c.4309G>T (p.Val1437Leu)
c.4558G>T (p.Val1520Leu)
Yg.12812987T>ACA414992574USP9Yc.4544T>A (p.Val1515Glu)
n.4556T>A
c.4310T>A (p.Val1437Glu)
c.4559T>A (p.Val1520Glu)
Yg.12812987T>CCA414992576USP9Yc.4544T>C (p.Val1515Ala)
n.4556T>C
c.4310T>C (p.Val1437Ala)
c.4559T>C (p.Val1520Ala)
Yg.12812987T>GCA414992577USP9Yc.4544T>G (p.Val1515Gly)
n.4556T>G
c.4310T>G (p.Val1437Gly)
c.4559T>G (p.Val1520Gly)
Yg.12812988G>ACA519896226USP9Yc.4545G>A (p.Val1515=)
n.4557G>A
c.4311G>A (p.Val1437=)
c.4560G>A (p.Val1520=)
Yg.12812988G>CCA519896222USP9Yc.4545G>C (p.Val1515=)
n.4557G>C
c.4311G>C (p.Val1437=)
c.4560G>C (p.Val1520=)
Yg.12812988G>TCA519896220USP9Yc.4545G>T (p.Val1515=)
n.4557G>T
c.4311G>T (p.Val1437=)
c.4560G>T (p.Val1520=)
Yg.12812989A>CCA519896230USP9Yc.4546A>C (p.Arg1516=)
n.4558A>C
c.4312A>C (p.Arg1438=)
c.4561A>C (p.Arg1521=)
Yg.12812989A>GCA414992582USP9Yc.4546A>G (p.Arg1516Gly)
n.4558A>G
c.4312A>G (p.Arg1438Gly)
c.4561A>G (p.Arg1521Gly)
Yg.12812989A>TCA414992580USP9Yc.4546A>T (p.Arg1516Trp)
n.4558A>T
c.4312A>T (p.Arg1438Trp)
c.4561A>T (p.Arg1521Trp)
Yg.12812990G>ACA414992585USP9Yc.4547G>A (p.Arg1516Lys)
n.4559G>A
c.4313G>A (p.Arg1438Lys)
c.4562G>A (p.Arg1521Lys)
Yg.12812990G>CCA414992587USP9Yc.4547G>C (p.Arg1516Thr)
n.4559G>C
c.4313G>C (p.Arg1438Thr)
c.4562G>C (p.Arg1521Thr)
Yg.12812990G>TCA414992592USP9Yc.4547G>T (p.Arg1516Met)
n.4559G>T
c.4313G>T (p.Arg1438Met)
c.4562G>T (p.Arg1521Met)
Yg.12812991G>ACA519896265USP9Yc.4548G>A (p.Arg1516=)
n.4560G>A
c.4314G>A (p.Arg1438=)
c.4563G>A (p.Arg1521=)
Yg.12812991G>CCA414992596USP9Yc.4548G>C (p.Arg1516Ser)
n.4560G>C
c.4314G>C (p.Arg1438Ser)
c.4563G>C (p.Arg1521Ser)
Yg.12812991G>TCA414992598USP9Yc.4548G>T (p.Arg1516Ser)
n.4560G>T
c.4314G>T (p.Arg1438Ser)
c.4563G>T (p.Arg1521Ser)
Yg.12812992A>CCA414992600USP9Yc.4549A>C (p.Asn1517His)
n.4561A>C
c.4315A>C (p.Asn1439His)
c.4564A>C (p.Asn1522His)
Yg.12812992A>GCA414992603USP9Yc.4549A>G (p.Asn1517Asp)
n.4561A>G
c.4315A>G (p.Asn1439Asp)
c.4564A>G (p.Asn1522Asp)
Yg.12812992A>TCA414992604USP9Yc.4549A>T (p.Asn1517Tyr)
n.4561A>T
c.4315A>T (p.Asn1439Tyr)
c.4564A>T (p.Asn1522Tyr)
Yg.12812993A>CCA414992607USP9Yc.4550A>C (p.Asn1517Thr)
n.4562A>C
c.4316A>C (p.Asn1439Thr)
c.4565A>C (p.Asn1522Thr)
Yg.12812993A>GCA414992612USP9Yc.4550A>G (p.Asn1517Ser)
n.4562A>G
c.4316A>G (p.Asn1439Ser)
c.4565A>G (p.Asn1522Ser)
Yg.12812993A>TCA414992615USP9Yc.4550A>T (p.Asn1517Ile)
n.4562A>T
c.4316A>T (p.Asn1439Ile)
c.4565A>T (p.Asn1522Ile)
Yg.12812994T>ACA414992618USP9Yc.4551T>A (p.Asn1517Lys)
n.4563T>A
c.4317T>A (p.Asn1439Lys)
c.4566T>A (p.Asn1522Lys)
Yg.12812994T>CCA519896287USP9Yc.4551T>C (p.Asn1517=)
n.4563T>C
c.4317T>C (p.Asn1439=)
c.4566T>C (p.Asn1522=)
Yg.12812994T>GCA414992621USP9Yc.4551T>G (p.Asn1517Lys)
n.4563T>G
c.4317T>G (p.Asn1439Lys)
c.4566T>G (p.Asn1522Lys)
Yg.12812995C>ACA414992624USP9Yc.4552C>A (p.Leu1518Ile)
n.4564C>A
c.4318C>A (p.Leu1440Ile)
c.4567C>A (p.Leu1523Ile)
Yg.12812995C>GCA414992629USP9Yc.4552C>G (p.Leu1518Val)
n.4564C>G
c.4318C>G (p.Leu1440Val)
c.4567C>G (p.Leu1523Val)
Yg.12812995C>TCA414992627USP9Yc.4552C>T (p.Leu1518Phe)
n.4564C>T
c.4318C>T (p.Leu1440Phe)
c.4567C>T (p.Leu1523Phe)
Yg.12812996T>ACA414992631USP9Yc.4553T>A (p.Leu1518His)
n.4565T>A
c.4319T>A (p.Leu1440His)
c.4568T>A (p.Leu1523His)
Yg.12812996T>CCA414992634USP9Yc.4553T>C (p.Leu1518Pro)
n.4565T>C
c.4319T>C (p.Leu1440Pro)
c.4568T>C (p.Leu1523Pro)
Yg.12812996T>GCA414992636USP9Yc.4553T>G (p.Leu1518Arg)
n.4565T>G
c.4319T>G (p.Leu1440Arg)
c.4568T>G (p.Leu1523Arg)
Yg.12812997C>ACA519896302USP9Yc.4554C>A (p.Leu1518=)
n.4566C>A
c.4320C>A (p.Leu1440=)
c.4569C>A (p.Leu1523=)
Yg.12812997C>GCA519896303USP9Yc.4554C>G (p.Leu1518=)
n.4566C>G
c.4320C>G (p.Leu1440=)
c.4569C>G (p.Leu1523=)
Yg.12812997C>TCA519896306USP9Yc.4554C>T (p.Leu1518=)
n.4566C>T
c.4320C>T (p.Leu1440=)
c.4569C>T (p.Leu1523=)
Yg.12812998A>CCA414992639USP9Yc.4555A>C (p.Lys1519Gln)
n.4567A>C
c.4321A>C (p.Lys1441Gln)
c.4570A>C (p.Lys1524Gln)
Yg.12812998A>GCA414992642USP9Yc.4555A>G (p.Lys1519Glu)
n.4567A>G
c.4321A>G (p.Lys1441Glu)
c.4570A>G (p.Lys1524Glu)
Yg.12812998A>TCA414992643USP9Yc.4555A>T (p.Lys1519Ter)
n.4567A>T
c.4321A>T (p.Lys1441Ter)
c.4570A>T (p.Lys1524Ter)
Yg.12812999A=CA2470559352USP9Yc.4556A= (p.Lys1519=)
n.4568A=
c.4322A= (p.Lys1441=)
c.4571A= (p.Lys1524=)
Yg.12812999A>CCA10573333USP9Yc.4556A>C (p.Lys1519Thr)
n.4568A>C
c.4322A>C (p.Lys1441Thr)
c.4571A>C (p.Lys1524Thr)
dbSNP ExAC
Yg.12812999A>GCA414992648USP9Yc.4556A>G (p.Lys1519Arg)
n.4568A>G
c.4322A>G (p.Lys1441Arg)
c.4571A>G (p.Lys1524Arg)
Yg.12812999A>TCA414992650USP9Yc.4556A>T (p.Lys1519Ile)
n.4568A>T
c.4322A>T (p.Lys1441Ile)
c.4571A>T (p.Lys1524Ile)
Yg.12813000A>CCA414992655USP9Yc.4557A>C (p.Lys1519Asn)
n.4569A>C
c.4323A>C (p.Lys1441Asn)
c.4572A>C (p.Lys1524Asn)
Yg.12813000A>GCA519896321USP9Yc.4557A>G (p.Lys1519=)
n.4569A>G
c.4323A>G (p.Lys1441=)
c.4572A>G (p.Lys1524=)
Yg.12813000A>TCA414992658USP9Yc.4557A>T (p.Lys1519Asn)
n.4569A>T
c.4323A>T (p.Lys1441Asn)
c.4572A>T (p.Lys1524Asn)
Yg.12813001C>ACA414992669USP9Yc.4558C>A (p.Gln1520Lys)
n.4570C>A
c.4324C>A (p.Gln1442Lys)
c.4573C>A (p.Gln1525Lys)
Yg.12813001C>GCA414992670USP9Yc.4558C>G (p.Gln1520Glu)
n.4570C>G
c.4324C>G (p.Gln1442Glu)
c.4573C>G (p.Gln1525Glu)
Yg.12813001C>TCA414992661USP9Yc.4558C>T (p.Gln1520Ter)
n.4570C>T
c.4324C>T (p.Gln1442Ter)
c.4573C>T (p.Gln1525Ter)
Yg.12813002A>CCA414992672USP9Yc.4559A>C (p.Gln1520Pro)
n.4571A>C
c.4325A>C (p.Gln1442Pro)
c.4574A>C (p.Gln1525Pro)
Yg.12813002A>GCA414992671USP9Yc.4559A>G (p.Gln1520Arg)
n.4571A>G
c.4325A>G (p.Gln1442Arg)
c.4574A>G (p.Gln1525Arg)
Yg.12813002A>TCA414992673USP9Yc.4559A>T (p.Gln1520Leu)
n.4571A>T
c.4325A>T (p.Gln1442Leu)
c.4574A>T (p.Gln1525Leu)
Yg.12813003_12813004delCA2579747983USP9Yc.4560_4561del (p.Gln1520HisfsTer7)
n.4572_4573del
c.4326_4327del (p.Gln1442HisfsTer7)
c.4575_4576del (p.Gln1525HisfsTer7)
Yg.12813003G>ACA519896340USP9Yc.4560G>A (p.Gln1520=)
n.4572G>A
c.4326G>A (p.Gln1442=)
c.4575G>A (p.Gln1525=)
Yg.12813003G>CCA414992674USP9Yc.4560G>C (p.Gln1520His)
n.4572G>C
c.4326G>C (p.Gln1442His)
c.4575G>C (p.Gln1525His)
Yg.12813003G>TCA414992676USP9Yc.4560G>T (p.Gln1520His)
n.4572G>T
c.4326G>T (p.Gln1442His)
c.4575G>T (p.Gln1525His)
Yg.12813004A>CCA414992678USP9Yc.4561A>C (p.Ile1521Leu)
n.4573A>C
c.4327A>C (p.Ile1443Leu)
c.4576A>C (p.Ile1526Leu)
Yg.12813004A>GCA414992681USP9Yc.4561A>G (p.Ile1521Val)
n.4573A>G
c.4327A>G (p.Ile1443Val)
c.4576A>G (p.Ile1526Val)
Yg.12813004A>TCA414992680USP9Yc.4561A>T (p.Ile1521Leu)
n.4573A>T
c.4327A>T (p.Ile1443Leu)
c.4576A>T (p.Ile1526Leu)
Yg.12813005T>ACA414992686USP9Yc.4562T>A (p.Ile1521Lys)
n.4574T>A
c.4328T>A (p.Ile1443Lys)
c.4577T>A (p.Ile1526Lys)
Yg.12813005T>CCA414992692USP9Yc.4562T>C (p.Ile1521Thr)
n.4574T>C
c.4328T>C (p.Ile1443Thr)
c.4577T>C (p.Ile1526Thr)
Yg.12813005T>GCA414992689USP9Yc.4562T>G (p.Ile1521Arg)
n.4574T>G
c.4328T>G (p.Ile1443Arg)
c.4577T>G (p.Ile1526Arg)
Yg.12813006A=CA2470559353USP9Yc.4563A= (p.Ile1521=)
n.4575A=
c.4329A= (p.Ile1443=)
c.4578A= (p.Ile1526=)
Yg.12813006A>CCA519896357USP9Yc.4563A>C (p.Ile1521=)
n.4575A>C
c.4329A>C (p.Ile1443=)
c.4578A>C (p.Ile1526=)
Yg.12813006A>GCA10573334USP9Yc.4563A>G (p.Ile1521Met)
n.4575A>G
c.4329A>G (p.Ile1443Met)
c.4578A>G (p.Ile1526Met)
dbSNP ExAC gnomAD v2
Yg.12813006A>TCA519896362USP9Yc.4563A>T (p.Ile1521=)
n.4575A>T
c.4329A>T (p.Ile1443=)
c.4578A>T (p.Ile1526=)
Yg.12813007G>ACA414992705USP9Yc.4564G>A (p.Val1522Ile)
n.4576G>A
c.4330G>A (p.Val1444Ile)
c.4579G>A (p.Val1527Ile)
Yg.12813007G>CCA414992708USP9Yc.4564G>C (p.Val1522Leu)
n.4576G>C
c.4330G>C (p.Val1444Leu)
c.4579G>C (p.Val1527Leu)
Yg.12813007G>TCA414992710USP9Yc.4564G>T (p.Val1522Leu)
n.4576G>T
c.4330G>T (p.Val1444Leu)
c.4579G>T (p.Val1527Leu)
Yg.12813008T>ACA414992713USP9Yc.4565T>A (p.Val1522Glu)
n.4577T>A
c.4331T>A (p.Val1444Glu)
c.4580T>A (p.Val1527Glu)
Yg.12813008T>CCA414992715USP9Yc.4565T>C (p.Val1522Ala)
n.4577T>C
c.4331T>C (p.Val1444Ala)
c.4580T>C (p.Val1527Ala)
Yg.12813008T>GCA414992719USP9Yc.4565T>G (p.Val1522Gly)
n.4577T>G
c.4331T>G (p.Val1444Gly)
c.4580T>G (p.Val1527Gly)

Number of alleles fetched