Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12833708A>CCA414998681USP9Yc.5042A>C (p.Asn1681Thr)
n.5054A>C
c.4808A>C (p.Asn1603Thr)
c.5057A>C (p.Asn1686Thr)
Yg.12833708A>GCA414998682USP9Yc.5042A>G (p.Asn1681Ser)
n.5054A>G
c.4808A>G (p.Asn1603Ser)
c.5057A>G (p.Asn1686Ser)
Yg.12833708A>TCA414998684USP9Yc.5042A>T (p.Asn1681Ile)
n.5054A>T
c.4808A>T (p.Asn1603Ile)
c.5057A>T (p.Asn1686Ile)
Yg.12833709T>ACA414998686USP9Yc.5043T>A (p.Asn1681Lys)
n.5055T>A
c.4809T>A (p.Asn1603Lys)
c.5058T>A (p.Asn1686Lys)
Yg.12833709T>CCA519901494USP9Yc.5043T>C (p.Asn1681=)
n.5055T>C
c.4809T>C (p.Asn1603=)
c.5058T>C (p.Asn1686=)
Yg.12833709T>GCA414998688USP9Yc.5043T>G (p.Asn1681Lys)
n.5055T>G
c.4809T>G (p.Asn1603Lys)
c.5058T>G (p.Asn1686Lys)
Yg.12833710C>ACA414998689USP9Yc.5044C>A (p.Leu1682Ile)
n.5056C>A
c.4810C>A (p.Leu1604Ile)
c.5059C>A (p.Leu1687Ile)
Yg.12833710C>GCA414998694USP9Yc.5044C>G (p.Leu1682Val)
n.5056C>G
c.4810C>G (p.Leu1604Val)
c.5059C>G (p.Leu1687Val)
Yg.12833710C>TCA414998692USP9Yc.5044C>T (p.Leu1682Phe)
n.5056C>T
c.4810C>T (p.Leu1604Phe)
c.5059C>T (p.Leu1687Phe)
Yg.12833711T>ACA414998696USP9Yc.5045T>A (p.Leu1682His)
n.5057T>A
c.4811T>A (p.Leu1604His)
c.5060T>A (p.Leu1687His)
Yg.12833711T>CCA414998698USP9Yc.5045T>C (p.Leu1682Pro)
n.5057T>C
c.4811T>C (p.Leu1604Pro)
c.5060T>C (p.Leu1687Pro)
Yg.12833711T>GCA414998700USP9Yc.5045T>G (p.Leu1682Arg)
n.5057T>G
c.4811T>G (p.Leu1604Arg)
c.5060T>G (p.Leu1687Arg)
Yg.12833712C>ACA519901503USP9Yc.5046C>A (p.Leu1682=)
n.5058C>A
c.4812C>A (p.Leu1604=)
c.5061C>A (p.Leu1687=)
Yg.12833712C>GCA519901507USP9Yc.5046C>G (p.Leu1682=)
n.5058C>G
c.4812C>G (p.Leu1604=)
c.5061C>G (p.Leu1687=)
Yg.12833712C>TCA519901505USP9Yc.5046C>T (p.Leu1682=)
n.5058C>T
c.4812C>T (p.Leu1604=)
c.5061C>T (p.Leu1687=)
Yg.12833713C>ACA414998703USP9Yc.5047C>A (p.Arg1683Ser)
n.5059C>A
c.4813C>A (p.Arg1605Ser)
c.5062C>A (p.Arg1688Ser)
Yg.12833713C=CA2470560446USP9Yc.5047C= (p.Arg1683=)
n.5059C=
c.4813C= (p.Arg1605=)
c.5062C= (p.Arg1688=)
Yg.12833713C>GCA414998705USP9Yc.5047C>G (p.Arg1683Gly)
n.5059C>G
c.4813C>G (p.Arg1605Gly)
c.5062C>G (p.Arg1688Gly)
Yg.12833713C>TCA414998707USP9Yc.5047C>T (p.Arg1683Cys)
n.5059C>T
c.4813C>T (p.Arg1605Cys)
c.5062C>T (p.Arg1688Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833714G>ACA10573378USP9Yc.5048G>A (p.Arg1683His)
n.5060G>A
c.4814G>A (p.Arg1605His)
c.5063G>A (p.Arg1688His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833714G>CCA414998710USP9Yc.5048G>C (p.Arg1683Pro)
n.5060G>C
c.4814G>C (p.Arg1605Pro)
c.5063G>C (p.Arg1688Pro)
Yg.12833714G=CA2470560447USP9Yc.5048G= (p.Arg1683=)
n.5060G=
c.4814G= (p.Arg1605=)
c.5063G= (p.Arg1688=)
Yg.12833714G>TCA414998712USP9Yc.5048G>T (p.Arg1683Leu)
n.5060G>T
c.4814G>T (p.Arg1605Leu)
c.5063G>T (p.Arg1688Leu)
Yg.12833715T>ACA519901515USP9Yc.5049T>A (p.Arg1683=)
n.5061T>A
c.4815T>A (p.Arg1605=)
c.5064T>A (p.Arg1688=)
Yg.12833715T>CCA519901517USP9Yc.5049T>C (p.Arg1683=)
n.5061T>C
c.4815T>C (p.Arg1605=)
c.5064T>C (p.Arg1688=)
Yg.12833715T>GCA519901518USP9Yc.5049T>G (p.Arg1683=)
n.5061T>G
c.4815T>G (p.Arg1605=)
c.5064T>G (p.Arg1688=)
Yg.12833716G>ACA414998714USP9Yc.5050G>A (p.Glu1684Lys)
n.5062G>A
c.4816G>A (p.Glu1606Lys)
c.5065G>A (p.Glu1689Lys)
Yg.12833716G>CCA414998716USP9Yc.5050G>C (p.Glu1684Gln)
n.5062G>C
c.4816G>C (p.Glu1606Gln)
c.5065G>C (p.Glu1689Gln)
Yg.12833716G>TCA414998718USP9Yc.5050G>T (p.Glu1684Ter)
n.5062G>T
c.4816G>T (p.Glu1606Ter)
c.5065G>T (p.Glu1689Ter)
Yg.12833717A>CCA414998724USP9Yc.5051A>C (p.Glu1684Ala)
n.5063A>C
c.4817A>C (p.Glu1606Ala)
c.5066A>C (p.Glu1689Ala)
Yg.12833717A>GCA414998720USP9Yc.5051A>G (p.Glu1684Gly)
n.5063A>G
c.4817A>G (p.Glu1606Gly)
c.5066A>G (p.Glu1689Gly)
Yg.12833717A>TCA414998722USP9Yc.5051A>T (p.Glu1684Val)
n.5063A>T
c.4817A>T (p.Glu1606Val)
c.5066A>T (p.Glu1689Val)
Yg.12833718A>CCA414998726USP9Yc.5052A>C (p.Glu1684Asp)
n.5064A>C
c.4818A>C (p.Glu1606Asp)
c.5067A>C (p.Glu1689Asp)
Yg.12833718A>GCA519901528USP9Yc.5052A>G (p.Glu1684=)
n.5064A>G
c.4818A>G (p.Glu1606=)
c.5067A>G (p.Glu1689=)
Yg.12833718A>TCA414998728USP9Yc.5052A>T (p.Glu1684Asp)
n.5064A>T
c.4818A>T (p.Glu1606Asp)
c.5067A>T (p.Glu1689Asp)
Yg.12833719C>ACA414998730USP9Yc.5053C>A (p.Gln1685Lys)
n.5065C>A
c.4819C>A (p.Gln1607Lys)
c.5068C>A (p.Gln1690Lys)
Yg.12833719C>GCA414998732USP9Yc.5053C>G (p.Gln1685Glu)
n.5065C>G
c.4819C>G (p.Gln1607Glu)
c.5068C>G (p.Gln1690Glu)
Yg.12833719C>TCA414998734USP9Yc.5053C>T (p.Gln1685Ter)
n.5065C>T
c.4819C>T (p.Gln1607Ter)
c.5068C>T (p.Gln1690Ter)
Yg.12833720A=CA2470560448USP9Yc.5054A= (p.Gln1685=)
n.5066A=
c.4820A= (p.Gln1607=)
c.5069A= (p.Gln1690=)
Yg.12833720A>CCA414998736USP9Yc.5054A>C (p.Gln1685Pro)
n.5066A>C
c.4820A>C (p.Gln1607Pro)
c.5069A>C (p.Gln1690Pro)
Yg.12833720A>GCA337720910USP9Yc.5054A>G (p.Gln1685Arg)
n.5066A>G
c.4820A>G (p.Gln1607Arg)
c.5069A>G (p.Gln1690Arg)
dbSNP
Yg.12833720A>TCA414998738USP9Yc.5054A>T (p.Gln1685Leu)
n.5066A>T
c.4820A>T (p.Gln1607Leu)
c.5069A>T (p.Gln1690Leu)
Yg.12833721A>CCA414998740USP9Yc.5055A>C (p.Gln1685His)
n.5067A>C
c.4821A>C (p.Gln1607His)
c.5070A>C (p.Gln1690His)
Yg.12833721A>GCA519901538USP9Yc.5055A>G (p.Gln1685=)
n.5067A>G
c.4821A>G (p.Gln1607=)
c.5070A>G (p.Gln1690=)
Yg.12833721A>TCA414998742USP9Yc.5055A>T (p.Gln1685His)
n.5067A>T
c.4821A>T (p.Gln1607His)
c.5070A>T (p.Gln1690His)
Yg.12833722C>ACA414998745USP9Yc.5056C>A (p.His1686Asn)
n.5068C>A
c.4822C>A (p.His1608Asn)
c.5071C>A (p.His1691Asn)
Yg.12833722C>GCA414998749USP9Yc.5056C>G (p.His1686Asp)
n.5068C>G
c.4822C>G (p.His1608Asp)
c.5071C>G (p.His1691Asp)
Yg.12833722C>TCA414998746USP9Yc.5056C>T (p.His1686Tyr)
n.5068C>T
c.4822C>T (p.His1608Tyr)
c.5071C>T (p.His1691Tyr)
Yg.12833723A>CCA414998751USP9Yc.5057A>C (p.His1686Pro)
n.5069A>C
c.4823A>C (p.His1608Pro)
c.5072A>C (p.His1691Pro)
Yg.12833723A>GCA414998755USP9Yc.5057A>G (p.His1686Arg)
n.5069A>G
c.4823A>G (p.His1608Arg)
c.5072A>G (p.His1691Arg)
Yg.12833723A>TCA414998753USP9Yc.5057A>T (p.His1686Leu)
n.5069A>T
c.4823A>T (p.His1608Leu)
c.5072A>T (p.His1691Leu)
Yg.12833724T>ACA414998756USP9Yc.5058T>A (p.His1686Gln)
n.5070T>A
c.4824T>A (p.His1608Gln)
c.5073T>A (p.His1691Gln)
Yg.12833724T>CCA519901548USP9Yc.5058T>C (p.His1686=)
n.5070T>C
c.4824T>C (p.His1608=)
c.5073T>C (p.His1691=)
Yg.12833724T>GCA414998758USP9Yc.5058T>G (p.His1686Gln)
n.5070T>G
c.4824T>G (p.His1608Gln)
c.5073T>G (p.His1691Gln)
Yg.12833725G>ACA414998760USP9Yc.5059G>A (p.Asp1687Asn)
n.5071G>A
c.4825G>A (p.Asp1609Asn)
c.5074G>A (p.Asp1692Asn)
Yg.12833725G>CCA414998764USP9Yc.5059G>C (p.Asp1687His)
n.5071G>C
c.4825G>C (p.Asp1609His)
c.5074G>C (p.Asp1692His)
Yg.12833725G>TCA414998762USP9Yc.5059G>T (p.Asp1687Tyr)
n.5071G>T
c.4825G>T (p.Asp1609Tyr)
c.5074G>T (p.Asp1692Tyr)
Yg.12833726A>CCA414998766USP9Yc.5060A>C (p.Asp1687Ala)
n.5072A>C
c.4826A>C (p.Asp1609Ala)
c.5075A>C (p.Asp1692Ala)
Yg.12833726A>GCA414998770USP9Yc.5060A>G (p.Asp1687Gly)
n.5072A>G
c.4826A>G (p.Asp1609Gly)
c.5075A>G (p.Asp1692Gly)
Yg.12833726A>TCA414998768USP9Yc.5060A>T (p.Asp1687Val)
n.5072A>T
c.4826A>T (p.Asp1609Val)
c.5075A>T (p.Asp1692Val)
Yg.12833727T>ACA414998772USP9Yc.5061T>A (p.Asp1687Glu)
n.5073T>A
c.4827T>A (p.Asp1609Glu)
c.5076T>A (p.Asp1692Glu)
Yg.12833727T>CCA519901555USP9Yc.5061T>C (p.Asp1687=)
n.5073T>C
c.4827T>C (p.Asp1609=)
c.5076T>C (p.Asp1692=)
Yg.12833727T>GCA414998774USP9Yc.5061T>G (p.Asp1687Glu)
n.5073T>G
c.4827T>G (p.Asp1609Glu)
c.5076T>G (p.Asp1692Glu)
Yg.12833728G>ACA414998776USP9Yc.5062G>A (p.Ala1688Thr)
n.5074G>A
c.4828G>A (p.Ala1610Thr)
c.5077G>A (p.Ala1693Thr)
Yg.12833728G>CCA414998778USP9Yc.5062G>C (p.Ala1688Pro)
n.5074G>C
c.4828G>C (p.Ala1610Pro)
c.5077G>C (p.Ala1693Pro)
Yg.12833728G>TCA414998780USP9Yc.5062G>T (p.Ala1688Ser)
n.5074G>T
c.4828G>T (p.Ala1610Ser)
c.5077G>T (p.Ala1693Ser)
Yg.12833729C>ACA414998781USP9Yc.5063C>A (p.Ala1688Asp)
n.5075C>A
c.4829C>A (p.Ala1610Asp)
c.5078C>A (p.Ala1693Asp)
Yg.12833729C>GCA414998783USP9Yc.5063C>G (p.Ala1688Gly)
n.5075C>G
c.4829C>G (p.Ala1610Gly)
c.5078C>G (p.Ala1693Gly)
Yg.12833729C>TCA414998786USP9Yc.5063C>T (p.Ala1688Val)
n.5075C>T
c.4829C>T (p.Ala1610Val)
c.5078C>T (p.Ala1693Val)
Yg.12833730C>ACA519901565USP9Yc.5064C>A (p.Ala1688=)
n.5076C>A
c.4830C>A (p.Ala1610=)
c.5079C>A (p.Ala1693=)
Yg.12833730C>GCA519901567USP9Yc.5064C>G (p.Ala1688=)
n.5076C>G
c.4830C>G (p.Ala1610=)
c.5079C>G (p.Ala1693=)
Yg.12833730C>TCA519901569USP9Yc.5064C>T (p.Ala1688=)
n.5076C>T
c.4830C>T (p.Ala1610=)
c.5079C>T (p.Ala1693=)
Yg.12833731T>ACA414998788USP9Yc.5065T>A (p.Leu1689Ile)
n.5077T>A
c.4831T>A (p.Leu1611Ile)
c.5080T>A (p.Leu1694Ile)
Yg.12833731T>CCA519901572USP9Yc.5065T>C (p.Leu1689=)
n.5077T>C
c.4831T>C (p.Leu1611=)
c.5080T>C (p.Leu1694=)
Yg.12833731T>GCA414998790USP9Yc.5065T>G (p.Leu1689Val)
n.5077T>G
c.4831T>G (p.Leu1611Val)
c.5080T>G (p.Leu1694Val)
Yg.12833732T>ACA414998796USP9Yc.5066T>A (p.Leu1689Ter)
n.5078T>A
c.4832T>A (p.Leu1611Ter)
c.5081T>A (p.Leu1694Ter)
Yg.12833732T>CCA414998792USP9Yc.5066T>C (p.Leu1689Ser)
n.5078T>C
c.4832T>C (p.Leu1611Ser)
c.5081T>C (p.Leu1694Ser)
Yg.12833732T>GCA414998794USP9Yc.5066T>G (p.Leu1689Ter)
n.5078T>G
c.4832T>G (p.Leu1611Ter)
c.5081T>G (p.Leu1694Ter)
Yg.12833732_12833734delinsTAGCA2470560449USP9Yc.5066_5068delinsTAG (p.Leu1689=)
n.5078_5080delinsTAG
c.4832_4834delinsTAG (p.Leu1611=)
c.5081_5083delinsTAG (p.Leu1694=)
Yg.12833733A>CCA414998798USP9Yc.5067A>C (p.Leu1689Phe)
n.5079A>C
c.4833A>C (p.Leu1611Phe)
c.5082A>C (p.Leu1694Phe)
Yg.12833733A>GCA519901582USP9Yc.5067A>G (p.Leu1689=)
n.5079A>G
c.4833A>G (p.Leu1611=)
c.5082A>G (p.Leu1694=)
Yg.12833733A>TCA414998800USP9Yc.5067A>T (p.Leu1689Phe)
n.5079A>T
c.4833A>T (p.Leu1611Phe)
c.5082A>T (p.Leu1694Phe)
Yg.12833735_12833736delCA10573379USP9Yc.5069_5070del (p.Glu1690ValfsTer3)
n.5081_5082del
c.4835_4836del (p.Glu1612ValfsTer3)
c.5084_5085del (p.Glu1695ValfsTer3)
dbSNP ExAC gnomAD v2
Yg.12833734G>ACA414998803USP9Yc.5068G>A (p.Glu1690Lys)
n.5080G>A
c.4834G>A (p.Glu1612Lys)
c.5083G>A (p.Glu1695Lys)
Yg.12833734G>CCA414998805USP9Yc.5068G>C (p.Glu1690Gln)
n.5080G>C
c.4834G>C (p.Glu1612Gln)
c.5083G>C (p.Glu1695Gln)
Yg.12833734G>TCA414998807USP9Yc.5068G>T (p.Glu1690Ter)
n.5080G>T
c.4834G>T (p.Glu1612Ter)
c.5083G>T (p.Glu1695Ter)
Yg.12833735A>CCA414998809USP9Yc.5069A>C (p.Glu1690Ala)
n.5081A>C
c.4835A>C (p.Glu1612Ala)
c.5084A>C (p.Glu1695Ala)
Yg.12833735A>GCA414998811USP9Yc.5069A>G (p.Glu1690Gly)
n.5081A>G
c.4835A>G (p.Glu1612Gly)
c.5084A>G (p.Glu1695Gly)
Yg.12833735A>TCA414998813USP9Yc.5069A>T (p.Glu1690Val)
n.5081A>T
c.4835A>T (p.Glu1612Val)
c.5084A>T (p.Glu1695Val)
Yg.12833736G>ACA519901594USP9Yc.5070G>A (p.Glu1690=)
n.5082G>A
c.4836G>A (p.Glu1612=)
c.5085G>A (p.Glu1695=)
Yg.12833736G>CCA414998815USP9Yc.5070G>C (p.Glu1690Asp)
n.5082G>C
c.4836G>C (p.Glu1612Asp)
c.5085G>C (p.Glu1695Asp)
Yg.12833736G>TCA414998816USP9Yc.5070G>T (p.Glu1690Asp)
n.5082G>T
c.4836G>T (p.Glu1612Asp)
c.5085G>T (p.Glu1695Asp)
Yg.12833737T>ACA414998818USP9Yc.5071T>A (p.Phe1691Ile)
n.5083T>A
c.4837T>A (p.Phe1613Ile)
c.5086T>A (p.Phe1696Ile)
Yg.12833737T>CCA414998820USP9Yc.5071T>C (p.Phe1691Leu)
n.5083T>C
c.4837T>C (p.Phe1613Leu)
c.5086T>C (p.Phe1696Leu)
Yg.12833737T>GCA414998822USP9Yc.5071T>G (p.Phe1691Val)
n.5083T>G
c.4837T>G (p.Phe1613Val)
c.5086T>G (p.Phe1696Val)
Yg.12833742delCA2579748043USP9Yc.5076del (p.Phe1692LeufsTer8)
n.5088del
c.4842del (p.Phe1614LeufsTer8)
c.5091del (p.Phe1697LeufsTer8)
Yg.12833738T>ACA414998824USP9Yc.5072T>A (p.Phe1691Tyr)
n.5084T>A
c.4838T>A (p.Phe1613Tyr)
c.5087T>A (p.Phe1696Tyr)
Yg.12833738T>CCA414998826USP9Yc.5072T>C (p.Phe1691Ser)
n.5084T>C
c.4838T>C (p.Phe1613Ser)
c.5087T>C (p.Phe1696Ser)
Yg.12833738T>GCA414998828USP9Yc.5072T>G (p.Phe1691Cys)
n.5084T>G
c.4838T>G (p.Phe1613Cys)
c.5087T>G (p.Phe1696Cys)
Yg.12833739T>ACA414998830USP9Yc.5073T>A (p.Phe1691Leu)
n.5085T>A
c.4839T>A (p.Phe1613Leu)
c.5088T>A (p.Phe1696Leu)
Yg.12833739T>CCA519901604USP9Yc.5073T>C (p.Phe1691=)
n.5085T>C
c.4839T>C (p.Phe1613=)
c.5088T>C (p.Phe1696=)
Yg.12833739T>GCA414998832USP9Yc.5073T>G (p.Phe1691Leu)
n.5085T>G
c.4839T>G (p.Phe1613Leu)
c.5088T>G (p.Phe1696Leu)
Yg.12833740T>ACA414998834USP9Yc.5074T>A (p.Phe1692Ile)
n.5086T>A
c.4840T>A (p.Phe1614Ile)
c.5089T>A (p.Phe1697Ile)
Yg.12833740T>CCA414998836USP9Yc.5074T>C (p.Phe1692Leu)
n.5086T>C
c.4840T>C (p.Phe1614Leu)
c.5089T>C (p.Phe1697Leu)
Yg.12833740T>GCA414998838USP9Yc.5074T>G (p.Phe1692Val)
n.5086T>G
c.4840T>G (p.Phe1614Val)
c.5089T>G (p.Phe1697Val)
Yg.12833741T>ACA414998844USP9Yc.5075T>A (p.Phe1692Tyr)
n.5087T>A
c.4841T>A (p.Phe1614Tyr)
c.5090T>A (p.Phe1697Tyr)
Yg.12833741T>CCA414998840USP9Yc.5075T>C (p.Phe1692Ser)
n.5087T>C
c.4841T>C (p.Phe1614Ser)
c.5090T>C (p.Phe1697Ser)
Yg.12833741T>GCA414998842USP9Yc.5075T>G (p.Phe1692Cys)
n.5087T>G
c.4841T>G (p.Phe1614Cys)
c.5090T>G (p.Phe1697Cys)
Yg.12833742T>ACA414998846USP9Yc.5076T>A (p.Phe1692Leu)
n.5088T>A
c.4842T>A (p.Phe1614Leu)
c.5091T>A (p.Phe1697Leu)
Yg.12833742T>CCA519901617USP9Yc.5076T>C (p.Phe1692=)
n.5088T>C
c.4842T>C (p.Phe1614=)
c.5091T>C (p.Phe1697=)
Yg.12833742T>GCA414998848USP9Yc.5076T>G (p.Phe1692Leu)
n.5088T>G
c.4842T>G (p.Phe1614Leu)
c.5091T>G (p.Phe1697Leu)
Yg.12833743A>CCA414998850USP9Yc.5077A>C (p.Asn1693His)
n.5089A>C
c.4843A>C (p.Asn1615His)
c.5092A>C (p.Asn1698His)
Yg.12833743A>GCA414998853USP9Yc.5077A>G (p.Asn1693Asp)
n.5089A>G
c.4843A>G (p.Asn1615Asp)
c.5092A>G (p.Asn1698Asp)
Yg.12833743A>TCA414998854USP9Yc.5077A>T (p.Asn1693Tyr)
n.5089A>T
c.4843A>T (p.Asn1615Tyr)
c.5092A>T (p.Asn1698Tyr)
Yg.12833744A>CCA414998856USP9Yc.5078A>C (p.Asn1693Thr)
n.5090A>C
c.4844A>C (p.Asn1615Thr)
c.5093A>C (p.Asn1698Thr)
Yg.12833744A>GCA414998858USP9Yc.5078A>G (p.Asn1693Ser)
n.5090A>G
c.4844A>G (p.Asn1615Ser)
c.5093A>G (p.Asn1698Ser)
Yg.12833744A>TCA414998860USP9Yc.5078A>T (p.Asn1693Ile)
n.5090A>T
c.4844A>T (p.Asn1615Ile)
c.5093A>T (p.Asn1698Ile)
Yg.12833745T>ACA414998862USP9Yc.5079T>A (p.Asn1693Lys)
n.5091T>A
c.4845T>A (p.Asn1615Lys)
c.5094T>A (p.Asn1698Lys)
Yg.12833745T>CCA519901628USP9Yc.5079T>C (p.Asn1693=)
n.5091T>C
c.4845T>C (p.Asn1615=)
c.5094T>C (p.Asn1698=)
Yg.12833745T>GCA414998863USP9Yc.5079T>G (p.Asn1693Lys)
n.5091T>G
c.4845T>G (p.Asn1615Lys)
c.5094T>G (p.Asn1698Lys)
Yg.12833746T>ACA414998868USP9Yc.5080T>A (p.Ser1694Thr)
n.5092T>A
c.4846T>A (p.Ser1616Thr)
c.5095T>A (p.Ser1699Thr)
Yg.12833746T>CCA414998870USP9Yc.5080T>C (p.Ser1694Pro)
n.5092T>C
c.4846T>C (p.Ser1616Pro)
c.5095T>C (p.Ser1699Pro)
Yg.12833746T>GCA414998866USP9Yc.5080T>G (p.Ser1694Ala)
n.5092T>G
c.4846T>G (p.Ser1616Ala)
c.5095T>G (p.Ser1699Ala)
Yg.12833747C>ACA414998872USP9Yc.5081C>A (p.Ser1694Tyr)
n.5093C>A
c.4847C>A (p.Ser1616Tyr)
c.5096C>A (p.Ser1699Tyr)
Yg.12833747C>GCA414998874USP9Yc.5081C>G (p.Ser1694Cys)
n.5093C>G
c.4847C>G (p.Ser1616Cys)
c.5096C>G (p.Ser1699Cys)
Yg.12833747C>TCA414998876USP9Yc.5081C>T (p.Ser1694Phe)
n.5093C>T
c.4847C>T (p.Ser1616Phe)
c.5096C>T (p.Ser1699Phe)
Yg.12833748T>ACA519901639USP9Yc.5082T>A (p.Ser1694=)
n.5094T>A
c.4848T>A (p.Ser1616=)
c.5097T>A (p.Ser1699=)
Yg.12833748T>CCA519901640USP9Yc.5082T>C (p.Ser1694=)
n.5094T>C
c.4848T>C (p.Ser1616=)
c.5097T>C (p.Ser1699=)
Yg.12833748T>GCA519901643USP9Yc.5082T>G (p.Ser1694=)
n.5094T>G
c.4848T>G (p.Ser1616=)
c.5097T>G (p.Ser1699=)
Yg.12833749T>ACA414998878USP9Yc.5083T>A (p.Leu1695Met)
n.5095T>A
c.4849T>A (p.Leu1617Met)
c.5098T>A (p.Leu1700Met)
Yg.12833749T>CCA519901646USP9Yc.5083T>C (p.Leu1695=)
n.5095T>C
c.4849T>C (p.Leu1617=)
c.5098T>C (p.Leu1700=)
Yg.12833749T>GCA414998880USP9Yc.5083T>G (p.Leu1695Val)
n.5095T>G
c.4849T>G (p.Leu1617Val)
c.5098T>G (p.Leu1700Val)
Yg.12833750T>ACA414998886USP9Yc.5084T>A (p.Leu1695Ter)
n.5096T>A
c.4850T>A (p.Leu1617Ter)
c.5099T>A (p.Leu1700Ter)
Yg.12833750T>CCA414998882USP9Yc.5084T>C (p.Leu1695Ser)
n.5096T>C
c.4850T>C (p.Leu1617Ser)
c.5099T>C (p.Leu1700Ser)
Yg.12833750T>GCA414998884USP9Yc.5084T>G (p.Leu1695Trp)
n.5096T>G
c.4850T>G (p.Leu1617Trp)
c.5099T>G (p.Leu1700Trp)
Yg.12833751G>ACA519901652USP9Yc.5085G>A (p.Leu1695=)
n.5097G>A
c.4851G>A (p.Leu1617=)
c.5100G>A (p.Leu1700=)
Yg.12833751G>CCA414998888USP9Yc.5085G>C (p.Leu1695Phe)
n.5097G>C
c.4851G>C (p.Leu1617Phe)
c.5100G>C (p.Leu1700Phe)
Yg.12833751G>TCA414998890USP9Yc.5085G>T (p.Leu1695Phe)
n.5097G>T
c.4851G>T (p.Leu1617Phe)
c.5100G>T (p.Leu1700Phe)
Yg.12833752G>ACA10573380USP9Yc.5086G>A (p.Val1696Met)
n.5098G>A
c.4852G>A (p.Val1618Met)
c.5101G>A (p.Val1701Met)
dbSNP ExAC gnomAD v2
Yg.12833752G>CCA414998893USP9Yc.5086G>C (p.Val1696Leu)
n.5098G>C
c.4852G>C (p.Val1618Leu)
c.5101G>C (p.Val1701Leu)
Yg.12833752G=CA2470560450USP9Yc.5086G= (p.Val1696=)
n.5098G=
c.4852G= (p.Val1618=)
c.5101G= (p.Val1701=)
Yg.12833752G>TCA414998895USP9Yc.5086G>T (p.Val1696Leu)
n.5098G>T
c.4852G>T (p.Val1618Leu)
c.5101G>T (p.Val1701Leu)
Yg.12833753T>ACA414998897USP9Yc.5087T>A (p.Val1696Glu)
n.5099T>A
c.4853T>A (p.Val1618Glu)
c.5102T>A (p.Val1701Glu)
Yg.12833753T>CCA414998901USP9Yc.5087T>C (p.Val1696Ala)
n.5099T>C
c.4853T>C (p.Val1618Ala)
c.5102T>C (p.Val1701Ala)
Yg.12833753T>GCA414998899USP9Yc.5087T>G (p.Val1696Gly)
n.5099T>G
c.4853T>G (p.Val1618Gly)
c.5102T>G (p.Val1701Gly)
Yg.12833754G>ACA519901666USP9Yc.5088G>A (p.Val1696=)
n.5100G>A
c.4854G>A (p.Val1618=)
c.5103G>A (p.Val1701=)
Yg.12833754G>CCA519901667USP9Yc.5088G>C (p.Val1696=)
n.5100G>C
c.4854G>C (p.Val1618=)
c.5103G>C (p.Val1701=)
Yg.12833754G>TCA519901669USP9Yc.5088G>T (p.Val1696=)
n.5100G>T
c.4854G>T (p.Val1618=)
c.5103G>T (p.Val1701=)
Yg.12833755G>ACA414998903USP9Yc.5089G>A (p.Asp1697Asn)
n.5101G>A
c.4855G>A (p.Asp1619Asn)
c.5104G>A (p.Asp1702Asn)
Yg.12833755G>CCA414998905USP9Yc.5089G>C (p.Asp1697His)
n.5101G>C
c.4855G>C (p.Asp1619His)
c.5104G>C (p.Asp1702His)
Yg.12833755G>TCA414998906USP9Yc.5089G>T (p.Asp1697Tyr)
n.5101G>T
c.4855G>T (p.Asp1619Tyr)
c.5104G>T (p.Asp1702Tyr)
Yg.12833756A>CCA414998909USP9Yc.5090A>C (p.Asp1697Ala)
n.5102A>C
c.4856A>C (p.Asp1619Ala)
c.5105A>C (p.Asp1702Ala)
Yg.12833756A>GCA414998910USP9Yc.5090A>G (p.Asp1697Gly)
n.5102A>G
c.4856A>G (p.Asp1619Gly)
c.5105A>G (p.Asp1702Gly)
Yg.12833756A>TCA414998912USP9Yc.5090A>T (p.Asp1697Val)
n.5102A>T
c.4856A>T (p.Asp1619Val)
c.5105A>T (p.Asp1702Val)
Yg.12833757T>ACA414998914USP9Yc.5091T>A (p.Asp1697Glu)
n.5103T>A
c.4857T>A (p.Asp1619Glu)
c.5106T>A (p.Asp1702Glu)
Yg.12833757T>CCA519901679USP9Yc.5091T>C (p.Asp1697=)
n.5103T>C
c.4857T>C (p.Asp1619=)
c.5106T>C (p.Asp1702=)
Yg.12833757T>GCA414998916USP9Yc.5091T>G (p.Asp1697Glu)
n.5103T>G
c.4857T>G (p.Asp1619Glu)
c.5106T>G (p.Asp1702Glu)
Yg.12833758A>CCA414998919USP9Yc.5092A>C (p.Ser1698Arg)
n.5104A>C
c.4858A>C (p.Ser1620Arg)
c.5107A>C (p.Ser1703Arg)
Yg.12833758A>GCA414998920USP9Yc.5092A>G (p.Ser1698Gly)
n.5104A>G
c.4858A>G (p.Ser1620Gly)
c.5107A>G (p.Ser1703Gly)
Yg.12833758A>TCA414998922USP9Yc.5092A>T (p.Ser1698Cys)
n.5104A>T
c.4858A>T (p.Ser1620Cys)
c.5107A>T (p.Ser1703Cys)
Yg.12833759G>ACA10573381USP9Yc.5093G>A (p.Ser1698Asn)
n.5105G>A
c.4859G>A (p.Ser1620Asn)
c.5108G>A (p.Ser1703Asn)
dbSNP ExAC
Yg.12833759G>CCA414998928USP9Yc.5093G>C (p.Ser1698Thr)
n.5105G>C
c.4859G>C (p.Ser1620Thr)
c.5108G>C (p.Ser1703Thr)
Yg.12833759G=CA2470560451USP9Yc.5093G= (p.Ser1698=)
n.5105G=
c.4859G= (p.Ser1620=)
c.5108G= (p.Ser1703=)
Yg.12833759G>TCA414998926USP9Yc.5093G>T (p.Ser1698Ile)
n.5105G>T
c.4859G>T (p.Ser1620Ile)
c.5108G>T (p.Ser1703Ile)
Yg.12833760T>ACA414998931USP9Yc.5094T>A (p.Ser1698Arg)
n.5106T>A
c.4860T>A (p.Ser1620Arg)
c.5109T>A (p.Ser1703Arg)
Yg.12833760T>CCA519901691USP9Yc.5094T>C (p.Ser1698=)
n.5106T>C
c.4860T>C (p.Ser1620=)
c.5109T>C (p.Ser1703=)
Yg.12833760T>GCA414998933USP9Yc.5094T>G (p.Ser1698Arg)
n.5106T>G
c.4860T>G (p.Ser1620Arg)
c.5109T>G (p.Ser1703Arg)
Yg.12833761T>ACA414998935USP9Yc.5095T>A (p.Leu1699Ile)
n.5107T>A
c.4861T>A (p.Leu1621Ile)
c.5110T>A (p.Leu1704Ile)
Yg.12833761T>CCA519901697USP9Yc.5095T>C (p.Leu1699=)
n.5107T>C
c.4861T>C (p.Leu1621=)
c.5110T>C (p.Leu1704=)
Yg.12833761T>GCA414998937USP9Yc.5095T>G (p.Leu1699Val)
n.5107T>G
c.4861T>G (p.Leu1621Val)
c.5110T>G (p.Leu1704Val)
Yg.12833762T>ACA414998939USP9Yc.5096T>A (p.Leu1699Ter)
n.5108T>A
c.4862T>A (p.Leu1621Ter)
c.5111T>A (p.Leu1704Ter)
Yg.12833762T>CCA414998940USP9Yc.5096T>C (p.Leu1699Ser)
n.5108T>C
c.4862T>C (p.Leu1621Ser)
c.5111T>C (p.Leu1704Ser)
Yg.12833762T>GCA414998943USP9Yc.5096T>G (p.Leu1699Ter)
n.5108T>G
c.4862T>G (p.Leu1621Ter)
c.5111T>G (p.Leu1704Ter)
Yg.12833763A>CCA414998945USP9Yc.5097A>C (p.Leu1699Phe)
n.5109A>C
c.4863A>C (p.Leu1621Phe)
c.5112A>C (p.Leu1704Phe)
Yg.12833763A>GCA519901705USP9Yc.5097A>G (p.Leu1699=)
n.5109A>G
c.4863A>G (p.Leu1621=)
c.5112A>G (p.Leu1704=)
Yg.12833763A>TCA414998946USP9Yc.5097A>T (p.Leu1699Phe)
n.5109A>T
c.4863A>T (p.Leu1621Phe)
c.5112A>T (p.Leu1704Phe)
Yg.12833764G>ACA414998948USP9Yc.5098G>A (p.Asp1700Asn)
n.5110G>A
c.4864G>A (p.Asp1622Asn)
c.5113G>A (p.Asp1705Asn)
Yg.12833764G>CCA414998950USP9Yc.5098G>C (p.Asp1700His)
n.5110G>C
c.4864G>C (p.Asp1622His)
c.5113G>C (p.Asp1705His)
Yg.12833764G>TCA414998951USP9Yc.5098G>T (p.Asp1700Tyr)
n.5110G>T
c.4864G>T (p.Asp1622Tyr)
c.5113G>T (p.Asp1705Tyr)
Yg.12833765A>CCA414998957USP9Yc.5099A>C (p.Asp1700Ala)
n.5111A>C
c.4865A>C (p.Asp1622Ala)
c.5114A>C (p.Asp1705Ala)
Yg.12833765A>GCA414998954USP9Yc.5099A>G (p.Asp1700Gly)
n.5111A>G
c.4865A>G (p.Asp1622Gly)
c.5114A>G (p.Asp1705Gly)
Yg.12833765A>TCA414998956USP9Yc.5099A>T (p.Asp1700Val)
n.5111A>T
c.4865A>T (p.Asp1622Val)
c.5114A>T (p.Asp1705Val)
Yg.12833766T>ACA414998960USP9Yc.5100T>A (p.Asp1700Glu)
n.5112T>A
c.4866T>A (p.Asp1622Glu)
c.5115T>A (p.Asp1705Glu)
Yg.12833766T>CCA519901718USP9Yc.5100T>C (p.Asp1700=)
n.5112T>C
c.4866T>C (p.Asp1622=)
c.5115T>C (p.Asp1705=)
Yg.12833766T>GCA414998961USP9Yc.5100T>G (p.Asp1700Glu)
n.5112T>G
c.4866T>G (p.Asp1622Glu)
c.5115T>G (p.Asp1705Glu)
Yg.12833767G>ACA414998963USP9Yc.5101G>A (p.Glu1701Lys)
n.5113G>A
c.4867G>A (p.Glu1623Lys)
c.5116G>A (p.Glu1706Lys)
Yg.12833767G>CCA414998964USP9Yc.5101G>C (p.Glu1701Gln)
n.5113G>C
c.4867G>C (p.Glu1623Gln)
c.5116G>C (p.Glu1706Gln)
Yg.12833767G>TCA414998965USP9Yc.5101G>T (p.Glu1701Ter)
n.5113G>T
c.4867G>T (p.Glu1623Ter)
c.5116G>T (p.Glu1706Ter)
Yg.12833768A>CCA414998967USP9Yc.5102A>C (p.Glu1701Ala)
n.5114A>C
c.4868A>C (p.Glu1623Ala)
c.5117A>C (p.Glu1706Ala)
Yg.12833768A>GCA414998969USP9Yc.5102A>G (p.Glu1701Gly)
n.5114A>G
c.4868A>G (p.Glu1623Gly)
c.5117A>G (p.Glu1706Gly)
Yg.12833768A>TCA414998971USP9Yc.5102A>T (p.Glu1701Val)
n.5114A>T
c.4868A>T (p.Glu1623Val)
c.5117A>T (p.Glu1706Val)
Yg.12833769A>CCA414998973USP9Yc.5103A>C (p.Glu1701Asp)
n.5115A>C
c.4869A>C (p.Glu1623Asp)
c.5118A>C (p.Glu1706Asp)
Yg.12833769A>GCA519901729USP9Yc.5103A>G (p.Glu1701=)
n.5115A>G
c.4869A>G (p.Glu1623=)
c.5118A>G (p.Glu1706=)
Yg.12833769A>TCA414998975USP9Yc.5103A>T (p.Glu1701Asp)
n.5115A>T
c.4869A>T (p.Glu1623Asp)
c.5118A>T (p.Glu1706Asp)
Yg.12833770G>ACA414998982USP9Yc.5104G>A (p.Ala1702Thr)
n.5116G>A
c.4870G>A (p.Ala1624Thr)
c.5119G>A (p.Ala1707Thr)
Yg.12833770G>CCA414998979USP9Yc.5104G>C (p.Ala1702Pro)
n.5116G>C
c.4870G>C (p.Ala1624Pro)
c.5119G>C (p.Ala1707Pro)
Yg.12833770G>TCA414998977USP9Yc.5104G>T (p.Ala1702Ser)
n.5116G>T
c.4870G>T (p.Ala1624Ser)
c.5119G>T (p.Ala1707Ser)
Yg.12833771C>ACA414998985USP9Yc.5105C>A (p.Ala1702Asp)
n.5117C>A
c.4871C>A (p.Ala1624Asp)
c.5120C>A (p.Ala1707Asp)
Yg.12833771C>GCA414998986USP9Yc.5105C>G (p.Ala1702Gly)
n.5117C>G
c.4871C>G (p.Ala1624Gly)
c.5120C>G (p.Ala1707Gly)
Yg.12833771C>TCA414998988USP9Yc.5105C>T (p.Ala1702Val)
n.5117C>T
c.4871C>T (p.Ala1624Val)
c.5120C>T (p.Ala1707Val)
Yg.12833772T>ACA10573382USP9Yc.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
Yg.12833772T>CCA519901737USP9Yc.5106T>C (p.Ala1702=)
n.5118T>C
c.4872T>C (p.Ala1624=)
c.5121T>C (p.Ala1707=)
Yg.12833772T>GCA519901740USP9Yc.5106T>G (p.Ala1702=)
n.5118T>G
c.4872T>G (p.Ala1624=)
c.5121T>G (p.Ala1707=)
Yg.12833772T=CA2470560452USP9Yc.5106T= (p.Ala1702=)
n.5118T=
c.4872T= (p.Ala1624=)
c.5121T= (p.Ala1707=)
Yg.12833773T>ACA414998989USP9Yc.5107T>A (p.Leu1703Ile)
n.5119T>A
c.4873T>A (p.Leu1625Ile)
c.5122T>A (p.Leu1708Ile)
Yg.12833773T>CCA519901744USP9Yc.5107T>C (p.Leu1703=)
n.5119T>C
c.4873T>C (p.Leu1625=)
c.5122T>C (p.Leu1708=)
Yg.12833773T>GCA414998990USP9Yc.5107T>G (p.Leu1703Val)
n.5119T>G
c.4873T>G (p.Leu1625Val)
c.5122T>G (p.Leu1708Val)
Yg.12833774T>ACA414998993USP9Yc.5108T>A (p.Leu1703Ter)
n.5120T>A
c.4874T>A (p.Leu1625Ter)
c.5123T>A (p.Leu1708Ter)
Yg.12833774T>CCA414998991USP9Yc.5108T>C (p.Leu1703Ser)
n.5120T>C
c.4874T>C (p.Leu1625Ser)
c.5123T>C (p.Leu1708Ser)
Yg.12833774T>GCA414998992USP9Yc.5108T>G (p.Leu1703Ter)
n.5120T>G
c.4874T>G (p.Leu1625Ter)
c.5123T>G (p.Leu1708Ter)
Yg.12833775A>CCA414998994USP9Yc.5109A>C (p.Leu1703Phe)
n.5121A>C
c.4875A>C (p.Leu1625Phe)
c.5124A>C (p.Leu1708Phe)
Yg.12833775A>GCA519901752USP9Yc.5109A>G (p.Leu1703=)
n.5121A>G
c.4875A>G (p.Leu1625=)
c.5124A>G (p.Leu1708=)
Yg.12833775A>TCA414998995USP9Yc.5109A>T (p.Leu1703Phe)
n.5121A>T
c.4875A>T (p.Leu1625Phe)
c.5124A>T (p.Leu1708Phe)
Yg.12833778delCA2766242006USP9Yc.5112del (p.Ala1705LeufsTer2)
n.5124del
c.4878del (p.Ala1627LeufsTer2)
c.5127del (p.Ala1710LeufsTer2)
Yg.12833776A>CCA414998996USP9Yc.5110A>C (p.Lys1704Gln)
n.5122A>C
c.4876A>C (p.Lys1626Gln)
c.5125A>C (p.Lys1709Gln)
Yg.12833776A>GCA414998997USP9Yc.5110A>G (p.Lys1704Glu)
n.5122A>G
c.4876A>G (p.Lys1626Glu)
c.5125A>G (p.Lys1709Glu)
Yg.12833776A>TCA414998998USP9Yc.5110A>T (p.Lys1704Ter)
n.5122A>T
c.4876A>T (p.Lys1626Ter)
c.5125A>T (p.Lys1709Ter)
Yg.12833777A>CCA414998999USP9Yc.5111A>C (p.Lys1704Thr)
n.5123A>C
c.4877A>C (p.Lys1626Thr)
c.5126A>C (p.Lys1709Thr)
Yg.12833777A>GCA414999001USP9Yc.5111A>G (p.Lys1704Arg)
n.5123A>G
c.4877A>G (p.Lys1626Arg)
c.5126A>G (p.Lys1709Arg)
Yg.12833777A>TCA414999000USP9Yc.5111A>T (p.Lys1704Ile)
n.5123A>T
c.4877A>T (p.Lys1626Ile)
c.5126A>T (p.Lys1709Ile)
Yg.12833778A>CCA414999002USP9Yc.5112A>C (p.Lys1704Asn)
n.5124A>C
c.4878A>C (p.Lys1626Asn)
c.5127A>C (p.Lys1709Asn)
Yg.12833778A>GCA519901763USP9Yc.5112A>G (p.Lys1704=)
n.5124A>G
c.4878A>G (p.Lys1626=)
c.5127A>G (p.Lys1709=)
Yg.12833778A>TCA414999003USP9Yc.5112A>T (p.Lys1704Asn)
n.5124A>T
c.4878A>T (p.Lys1626Asn)
c.5127A>T (p.Lys1709Asn)
Yg.12833779G>ACA414999005USP9Yc.5113G>A (p.Ala1705Thr)
n.5125G>A
c.4879G>A (p.Ala1627Thr)
c.5128G>A (p.Ala1710Thr)
Yg.12833779G>CCA414999007USP9Yc.5113G>C (p.Ala1705Pro)
n.5125G>C
c.4879G>C (p.Ala1627Pro)
c.5128G>C (p.Ala1710Pro)
Yg.12833779G=CA2470560453USP9Yc.5113G= (p.Ala1705=)
n.5125G=
c.4879G= (p.Ala1627=)
c.5128G= (p.Ala1710=)
Yg.12833779G>TCA337720911USP9Yc.5113G>T (p.Ala1705Ser)
n.5125G>T
c.4879G>T (p.Ala1627Ser)
c.5128G>T (p.Ala1710Ser)
dbSNP
Yg.12833780C>ACA414999009USP9Yc.5114C>A (p.Ala1705Asp)
n.5126C>A
c.4880C>A (p.Ala1627Asp)
c.5129C>A (p.Ala1710Asp)
Yg.12833780C>GCA414999010USP9Yc.5114C>G (p.Ala1705Gly)
n.5126C>G
c.4880C>G (p.Ala1627Gly)
c.5129C>G (p.Ala1710Gly)
Yg.12833780C>TCA414999011USP9Yc.5114C>T (p.Ala1705Val)
n.5126C>T
c.4880C>T (p.Ala1627Val)
c.5129C>T (p.Ala1710Val)
Yg.12833781T>ACA519901772USP9Yc.5115T>A (p.Ala1705=)
n.5127T>A
c.4881T>A (p.Ala1627=)
c.5130T>A (p.Ala1710=)
Yg.12833781T>CCA519901773USP9Yc.5115T>C (p.Ala1705=)
n.5127T>C
c.4881T>C (p.Ala1627=)
c.5130T>C (p.Ala1710=)
Yg.12833781T>GCA519901776USP9Yc.5115T>G (p.Ala1705=)
n.5127T>G
c.4881T>G (p.Ala1627=)
c.5130T>G (p.Ala1710=)
Yg.12833782T>ACA414999014USP9Yc.5116T>A (p.Leu1706Ile)
n.5128T>A
c.4882T>A (p.Leu1628Ile)
c.5131T>A (p.Leu1711Ile)
Yg.12833782T>CCA519901781USP9Yc.5116T>C (p.Leu1706=)
n.5128T>C
c.4882T>C (p.Leu1628=)
c.5131T>C (p.Leu1711=)
Yg.12833782T>GCA414999015USP9Yc.5116T>G (p.Leu1706Val)
n.5128T>G
c.4882T>G (p.Leu1628Val)
c.5131T>G (p.Leu1711Val)
Yg.12833783T>ACA414999020USP9Yc.5117T>A (p.Leu1706Ter)
n.5129T>A
c.4883T>A (p.Leu1628Ter)
c.5132T>A (p.Leu1711Ter)
Yg.12833783T>CCA414999017USP9Yc.5117T>C (p.Leu1706Ser)
n.5129T>C
c.4883T>C (p.Leu1628Ser)
c.5132T>C (p.Leu1711Ser)
Yg.12833783T>GCA414999018USP9Yc.5117T>G (p.Leu1706Ter)
n.5129T>G
c.4883T>G (p.Leu1628Ter)
c.5132T>G (p.Leu1711Ter)
Yg.12833784A>CCA414999022USP9Yc.5118A>C (p.Leu1706Phe)
n.5130A>C
c.4884A>C (p.Leu1628Phe)
c.5133A>C (p.Leu1711Phe)
Yg.12833784A>GCA519901790USP9Yc.5118A>G (p.Leu1706=)
n.5130A>G
c.4884A>G (p.Leu1628=)
c.5133A>G (p.Leu1711=)
Yg.12833784A>TCA414999023USP9Yc.5118A>T (p.Leu1706Phe)
n.5130A>T
c.4884A>T (p.Leu1628Phe)
c.5133A>T (p.Leu1711Phe)
Yg.12833785G>ACA414999025USP9Yc.5119G>A (p.Gly1707Arg)
n.5131G>A
c.4885G>A (p.Gly1629Arg)
c.5134G>A (p.Gly1712Arg)
Yg.12833785G>CCA414999027USP9Yc.5119G>C (p.Gly1707Arg)
n.5131G>C
c.4885G>C (p.Gly1629Arg)
c.5134G>C (p.Gly1712Arg)
Yg.12833785G>TCA414999029USP9Yc.5119G>T (p.Gly1707Ter)
n.5131G>T
c.4885G>T (p.Gly1629Ter)
c.5134G>T (p.Gly1712Ter)
Yg.12833786G>ACA414999030USP9Yc.5120G>A (p.Gly1707Glu)
n.5132G>A
c.4886G>A (p.Gly1629Glu)
c.5135G>A (p.Gly1712Glu)
Yg.12833786G>CCA414999031USP9Yc.5120G>C (p.Gly1707Ala)
n.5132G>C
c.4886G>C (p.Gly1629Ala)
c.5135G>C (p.Gly1712Ala)
Yg.12833786G>TCA414999033USP9Yc.5120G>T (p.Gly1707Val)
n.5132G>T
c.4886G>T (p.Gly1629Val)
c.5135G>T (p.Gly1712Val)
Yg.12833787A>CCA519901801USP9Yc.5121A>C (p.Gly1707=)
n.5133A>C
c.4887A>C (p.Gly1629=)
c.5136A>C (p.Gly1712=)
Yg.12833787A>GCA519901803USP9Yc.5121A>G (p.Gly1707=)
n.5133A>G
c.4887A>G (p.Gly1629=)
c.5136A>G (p.Gly1712=)
Yg.12833787A>TCA519901805USP9Yc.5121A>T (p.Gly1707=)
n.5133A>T
c.4887A>T (p.Gly1629=)
c.5136A>T (p.Gly1712=)
Yg.12833788C>ACA414999035USP9Yc.5122C>A (p.His1708Asn)
n.5134C>A
c.4888C>A (p.His1630Asn)
c.5137C>A (p.His1713Asn)
Yg.12833788C=CA2470560454USP9Yc.5122C= (p.His1708=)
n.5134C=
c.4888C= (p.His1630=)
c.5137C= (p.His1713=)
Yg.12833788C>GCA414999037USP9Yc.5122C>G (p.His1708Asp)
n.5134C>G
c.4888C>G (p.His1630Asp)
c.5137C>G (p.His1713Asp)
Yg.12833788C>TCA414999038USP9Yc.5122C>T (p.His1708Tyr)
n.5134C>T
c.4888C>T (p.His1630Tyr)
c.5137C>T (p.His1713Tyr)
dbSNP gnomAD v2
Yg.12833789A>CCA414999044USP9Yc.5123A>C (p.His1708Pro)
n.5135A>C
c.4889A>C (p.His1630Pro)
c.5138A>C (p.His1713Pro)
Yg.12833789A>GCA414999042USP9Yc.5123A>G (p.His1708Arg)
n.5135A>G
c.4889A>G (p.His1630Arg)
c.5138A>G (p.His1713Arg)
Yg.12833789A>TCA414999040USP9Yc.5123A>T (p.His1708Leu)
n.5135A>T
c.4889A>T (p.His1630Leu)
c.5138A>T (p.His1713Leu)
Yg.12833790C>ACA414999045USP9Yc.5124C>A (p.His1708Gln)
n.5136C>A
c.4890C>A (p.His1630Gln)
c.5139C>A (p.His1713Gln)
Yg.12833790C>GCA414999047USP9Yc.5124C>G (p.His1708Gln)
n.5136C>G
c.4890C>G (p.His1630Gln)
c.5139C>G (p.His1713Gln)
Yg.12833790C>TCA519901815USP9Yc.5124C>T (p.His1708=)
n.5136C>T
c.4890C>T (p.His1630=)
c.5139C>T (p.His1713=)
Yg.12833791C>ACA414999049USP9Yc.5125C>A (p.Pro1709Thr)
n.5137C>A
c.4891C>A (p.Pro1631Thr)
c.5140C>A (p.Pro1714Thr)
Yg.12833791C>GCA414999051USP9Yc.5125C>G (p.Pro1709Ala)
n.5137C>G
c.4891C>G (p.Pro1631Ala)
c.5140C>G (p.Pro1714Ala)
Yg.12833791C>TCA414999052USP9Yc.5125C>T (p.Pro1709Ser)
n.5137C>T
c.4891C>T (p.Pro1631Ser)
c.5140C>T (p.Pro1714Ser)
Yg.12833792C>ACA414999054USP9Yc.5126C>A (p.Pro1709Gln)
n.5138C>A
c.4892C>A (p.Pro1631Gln)
c.5141C>A (p.Pro1714Gln)
Yg.12833792C>GCA414999056USP9Yc.5126C>G (p.Pro1709Arg)
n.5138C>G
c.4892C>G (p.Pro1631Arg)
c.5141C>G (p.Pro1714Arg)
Yg.12833792C>TCA414999057USP9Yc.5126C>T (p.Pro1709Leu)
n.5138C>T
c.4892C>T (p.Pro1631Leu)
c.5141C>T (p.Pro1714Leu)
Yg.12833793G>ACA10573383USP9Yc.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
Yg.12833793G>CCA519901826USP9Yc.5127G>C (p.Pro1709=)
n.5139G>C
c.4893G>C (p.Pro1631=)
c.5142G>C (p.Pro1714=)
Yg.12833793G=CA2470560455USP9Yc.5127G= (p.Pro1709=)
n.5139G=
c.4893G= (p.Pro1631=)
c.5142G= (p.Pro1714=)
Yg.12833793G>TCA519901828USP9Yc.5127G>T (p.Pro1709=)
n.5139G>T
c.4893G>T (p.Pro1631=)
c.5142G>T (p.Pro1714=)
Yg.12833794G>ACA414999060USP9Yc.5128G>A (p.Ala1710Thr)
n.5140G>A
c.4894G>A (p.Ala1632Thr)
c.5143G>A (p.Ala1715Thr)
Yg.12833794G>CCA414999062USP9Yc.5128G>C (p.Ala1710Pro)
n.5140G>C
c.4894G>C (p.Ala1632Pro)
c.5143G>C (p.Ala1715Pro)
Yg.12833794G=CA2470560456USP9Yc.5128G= (p.Ala1710=)
n.5140G=
c.4894G= (p.Ala1632=)
c.5143G= (p.Ala1715=)
Yg.12833794G>TCA414999063USP9Yc.5128G>T (p.Ala1710Ser)
n.5140G>T
c.4894G>T (p.Ala1632Ser)
c.5143G>T (p.Ala1715Ser)
dbSNP gnomAD v2
Yg.12833795C>ACA414999065USP9Yc.5129C>A (p.Ala1710Asp)
n.5141C>A
c.4895C>A (p.Ala1632Asp)
c.5144C>A (p.Ala1715Asp)
Yg.12833795C>GCA414999068USP9Yc.5129C>G (p.Ala1710Gly)
n.5141C>G
c.4895C>G (p.Ala1632Gly)
c.5144C>G (p.Ala1715Gly)
Yg.12833795C>TCA414999067USP9Yc.5129C>T (p.Ala1710Val)
n.5141C>T
c.4895C>T (p.Ala1632Val)
c.5144C>T (p.Ala1715Val)
Yg.12833796T>ACA519901837USP9Yc.5130T>A (p.Ala1710=)
n.5142T>A
c.4896T>A (p.Ala1632=)
c.5145T>A (p.Ala1715=)
Yg.12833796T>CCA519901840USP9Yc.5130T>C (p.Ala1710=)
n.5142T>C
c.4896T>C (p.Ala1632=)
c.5145T>C (p.Ala1715=)
Yg.12833796T>GCA519901838USP9Yc.5130T>G (p.Ala1710=)
n.5142T>G
c.4896T>G (p.Ala1632=)
c.5145T>G (p.Ala1715=)
Yg.12833797A>CCA414999070USP9Yc.5131A>C (p.Ile1711Leu)
n.5143A>C
c.4897A>C (p.Ile1633Leu)
c.5146A>C (p.Ile1716Leu)
Yg.12833797A>GCA414999074USP9Yc.5131A>G (p.Ile1711Val)
n.5143A>G
c.4897A>G (p.Ile1633Val)
c.5146A>G (p.Ile1716Val)
Yg.12833797A>TCA414999072USP9Yc.5131A>T (p.Ile1711Leu)
n.5143A>T
c.4897A>T (p.Ile1633Leu)
c.5146A>T (p.Ile1716Leu)
Yg.12833798T>ACA414999075USP9Yc.5132T>A (p.Ile1711Lys)
n.5144T>A
c.4898T>A (p.Ile1633Lys)
c.5147T>A (p.Ile1716Lys)
Yg.12833798T>CCA414999077USP9Yc.5132T>C (p.Ile1711Thr)
n.5144T>C
c.4898T>C (p.Ile1633Thr)
c.5147T>C (p.Ile1716Thr)
Yg.12833798T>GCA414999079USP9Yc.5132T>G (p.Ile1711Arg)
n.5144T>G
c.4898T>G (p.Ile1633Arg)
c.5147T>G (p.Ile1716Arg)
Yg.12833799A=CA2470560457USP9Yc.5133A= (p.Ile1711=)
n.5145A=
c.4899A= (p.Ile1633=)
c.5148A= (p.Ile1716=)
Yg.12833799A>CCA519901847USP9Yc.5133A>C (p.Ile1711=)
n.5145A>C
c.4899A>C (p.Ile1633=)
c.5148A>C (p.Ile1716=)
Yg.12833799A>GCA414999081USP9Yc.5133A>G (p.Ile1711Met)
n.5145A>G
c.4899A>G (p.Ile1633Met)
c.5148A>G (p.Ile1716Met)
dbSNP gnomAD v2
Yg.12833799A>TCA519901850USP9Yc.5133A>T (p.Ile1711=)
n.5145A>T
c.4899A>T (p.Ile1633=)
c.5148A>T (p.Ile1716=)
Yg.12833800C>ACA414999082USP9Yc.5134C>A (p.Leu1712Ile)
n.5146C>A
c.4900C>A (p.Leu1634Ile)
c.5149C>A (p.Leu1717Ile)
Yg.12833800C>GCA414999084USP9Yc.5134C>G (p.Leu1712Val)
n.5146C>G
c.4900C>G (p.Leu1634Val)
c.5149C>G (p.Leu1717Val)
Yg.12833800C>TCA519901854USP9Yc.5134C>T (p.Leu1712=)
n.5146C>T
c.4900C>T (p.Leu1634=)
c.5149C>T (p.Leu1717=)
Yg.12833801T>ACA414999086USP9Yc.5135T>A (p.Leu1712Gln)
n.5147T>A
c.4901T>A (p.Leu1634Gln)
c.5150T>A (p.Leu1717Gln)
Yg.12833801T>CCA414999088USP9Yc.5135T>C (p.Leu1712Pro)
n.5147T>C
c.4901T>C (p.Leu1634Pro)
c.5150T>C (p.Leu1717Pro)
Yg.12833801T>GCA414999089USP9Yc.5135T>G (p.Leu1712Arg)
n.5147T>G
c.4901T>G (p.Leu1634Arg)
c.5150T>G (p.Leu1717Arg)
Yg.12833802A>CCA519901861USP9Yc.5136A>C (p.Leu1712=)
n.5148A>C
c.4902A>C (p.Leu1634=)
c.5151A>C (p.Leu1717=)
Yg.12833802A>GCA519901866USP9Yc.5136A>G (p.Leu1712=)
n.5148A>G
c.4902A>G (p.Leu1634=)
c.5151A>G (p.Leu1717=)
Yg.12833802A>TCA519901864USP9Yc.5136A>T (p.Leu1712=)
n.5148A>T
c.4902A>T (p.Leu1634=)
c.5151A>T (p.Leu1717=)
Yg.12833803A>CCA414999094USP9Yc.5137A>C (p.Ser1713Arg)
n.5149A>C
c.4903A>C (p.Ser1635Arg)
c.5152A>C (p.Ser1718Arg)
Yg.12833803A>GCA414999093USP9Yc.5137A>G (p.Ser1713Gly)
n.5149A>G
c.4903A>G (p.Ser1635Gly)
c.5152A>G (p.Ser1718Gly)
Yg.12833803A>TCA414999092USP9Yc.5137A>T (p.Ser1713Cys)
n.5149A>T
c.4903A>T (p.Ser1635Cys)
c.5152A>T (p.Ser1718Cys)
Yg.12833804G>ACA10573384USP9Yc.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
Yg.12833804G>CCA414999097USP9Yc.5138G>C (p.Ser1713Thr)
n.5150G>C
c.4904G>C (p.Ser1635Thr)
c.5153G>C (p.Ser1718Thr)
Yg.12833804G=CA2470560458USP9Yc.5138G= (p.Ser1713=)
n.5150G=
c.4904G= (p.Ser1635=)
c.5153G= (p.Ser1718=)
Yg.12833804G>TCA414999099USP9Yc.5138G>T (p.Ser1713Ile)
n.5150G>T
c.4904G>T (p.Ser1635Ile)
c.5153G>T (p.Ser1718Ile)
Yg.12833805T>ACA414999101USP9Yc.5139T>A (p.Ser1713Arg)
n.5151T>A
c.4905T>A (p.Ser1635Arg)
c.5154T>A (p.Ser1718Arg)
Yg.12833805T>CCA519901873USP9Yc.5139T>C (p.Ser1713=)
n.5151T>C
c.4905T>C (p.Ser1635=)
c.5154T>C (p.Ser1718=)
Yg.12833805T>GCA414999102USP9Yc.5139T>G (p.Ser1713Arg)
n.5151T>G
c.4905T>G (p.Ser1635Arg)
c.5154T>G (p.Ser1718Arg)
Yg.12833806A>CCA414999104USP9Yc.5140A>C (p.Lys1714Gln)
n.5152A>C
c.4906A>C (p.Lys1636Gln)
c.5155A>C (p.Lys1719Gln)
Yg.12833806A>GCA414999105USP9Yc.5140A>G (p.Lys1714Glu)
n.5152A>G
c.4906A>G (p.Lys1636Glu)
c.5155A>G (p.Lys1719Glu)
Yg.12833806A>TCA414999107USP9Yc.5140A>T (p.Lys1714Ter)
n.5152A>T
c.4906A>T (p.Lys1636Ter)
c.5155A>T (p.Lys1719Ter)
Yg.12833807A>CCA414999109USP9Yc.5141A>C (p.Lys1714Thr)
n.5153A>C
c.4907A>C (p.Lys1636Thr)
c.5156A>C (p.Lys1719Thr)
Yg.12833807A>GCA414999110USP9Yc.5141A>G (p.Lys1714Arg)
n.5153A>G
c.4907A>G (p.Lys1636Arg)
c.5156A>G (p.Lys1719Arg)
Yg.12833807A>TCA414999112USP9Yc.5141A>T (p.Lys1714Ile)
n.5153A>T
c.4907A>T (p.Lys1636Ile)
c.5156A>T (p.Lys1719Ile)
Yg.12833808A>CCA414999116USP9Yc.5142A>C (p.Lys1714Asn)
n.5154A>C
c.4908A>C (p.Lys1636Asn)
c.5157A>C (p.Lys1719Asn)
Yg.12833808A>GCA519901884USP9Yc.5142A>G (p.Lys1714=)
n.5154A>G
c.4908A>G (p.Lys1636=)
c.5157A>G (p.Lys1719=)
Yg.12833808A>TCA414999114USP9Yc.5142A>T (p.Lys1714Asn)
n.5154A>T
c.4908A>T (p.Lys1636Asn)
c.5157A>T (p.Lys1719Asn)

Number of alleles fetched