Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12833676T>ACA337720908USP9Yc.5022-12T>A (n.5022-12T>A)
n.5034-12T>A
c.4788-12T>A (n.4788-12T>A)
c.5037-12T>A (n.5037-12T>A)
dbSNP
Yg.12833676T=CA2470560444USP9Yc.5022-12T= (n.5022-12T=)
n.5034-12T=
c.4788-12T= (n.4788-12T=)
c.5037-12T= (n.5037-12T=)
Yg.12833677T>GCA2579748042USP9Yc.5022-11T>G (n.5022-11T>G)
n.5034-11T>G
c.4788-11T>G (n.4788-11T>G)
c.5037-11T>G (n.5037-11T>G)
Yg.12833679C>TCA2766242005USP9Yc.5022-9C>T (n.5022-9C>T)
n.5034-9C>T
c.4788-9C>T (n.4788-9C>T)
c.5037-9C>T (n.5037-9C>T)
Yg.12833680C>TCA2589297628USP9Yc.5022-8C>T (n.5022-8C>T)
n.5034-8C>T
c.4788-8C>T (n.4788-8C>T)
c.5037-8C>T (n.5037-8C>T)
gnomAD v3 gnomAD v4
Yg.12833683_12833685delCA1139272056USP9Yc.5022-5_5022-3del (n.5022-5_5022-3del)
n.5034-5_5034-3del
c.4788-5_4788-3del (n.4788-5_4788-3del)
c.5037-5_5037-3del (n.5037-5_5037-3del)
gnomAD v3 gnomAD v4
Yg.12833686A>CCA414998583USP9Yc.5022-2A>C (n.5022-2A>C)
n.5034-2A>C
c.4788-2A>C (n.4788-2A>C)
c.5037-2A>C (n.5037-2A>C)
Yg.12833686A>GCA414998585USP9Yc.5022-2A>G (n.5022-2A>G)
n.5034-2A>G
c.4788-2A>G (n.4788-2A>G)
c.5037-2A>G (n.5037-2A>G)
Yg.12833686A>TCA414998587USP9Yc.5022-2A>T (n.5022-2A>T)
n.5034-2A>T
c.4788-2A>T (n.4788-2A>T)
c.5037-2A>T (n.5037-2A>T)
Yg.12833687G>ACA414998589USP9Yc.5022-1G>A (n.5022-1G>A)
n.5034-1G>A
c.4788-1G>A (n.4788-1G>A)
c.5037-1G>A (n.5037-1G>A)
Yg.12833687G>CCA414998591USP9Yc.5022-1G>C (n.5022-1G>C)
n.5034-1G>C
c.4788-1G>C (n.4788-1G>C)
c.5037-1G>C (n.5037-1G>C)
Yg.12833687G>TCA414998592USP9Yc.5022-1G>T (n.5022-1G>T)
n.5034-1G>T
c.4788-1G>T (n.4788-1G>T)
c.5037-1G>T (n.5037-1G>T)
Yg.12833688G>ACA519901419USP9Yc.5022G>A (p.Arg1674=)
n.5034G>A
c.4788G>A (p.Arg1596=)
c.5037G>A (p.Arg1679=)
Yg.12833688G>CCA414998595USP9Yc.5022G>C (p.Arg1674Ser)
n.5034G>C
c.4788G>C (p.Arg1596Ser)
c.5037G>C (p.Arg1679Ser)
Yg.12833688G>TCA414998596USP9Yc.5022G>T (p.Arg1674Ser)
n.5034G>T
c.4788G>T (p.Arg1596Ser)
c.5037G>T (p.Arg1679Ser)
Yg.12833689C>ACA414998599USP9Yc.5023C>A (p.Leu1675Ile)
n.5035C>A
c.4789C>A (p.Leu1597Ile)
c.5038C>A (p.Leu1680Ile)
Yg.12833689C>GCA414998601USP9Yc.5023C>G (p.Leu1675Val)
n.5035C>G
c.4789C>G (p.Leu1597Val)
c.5038C>G (p.Leu1680Val)
Yg.12833689C>TCA414998602USP9Yc.5023C>T (p.Leu1675Phe)
n.5035C>T
c.4789C>T (p.Leu1597Phe)
c.5038C>T (p.Leu1680Phe)
Yg.12833690T>ACA414998608USP9Yc.5024T>A (p.Leu1675His)
n.5036T>A
c.4790T>A (p.Leu1597His)
c.5039T>A (p.Leu1680His)
Yg.12833690T>CCA414998607USP9Yc.5024T>C (p.Leu1675Pro)
n.5036T>C
c.4790T>C (p.Leu1597Pro)
c.5039T>C (p.Leu1680Pro)
Yg.12833690T>GCA414998605USP9Yc.5024T>G (p.Leu1675Arg)
n.5036T>G
c.4790T>G (p.Leu1597Arg)
c.5039T>G (p.Leu1680Arg)
Yg.12833691T>ACA519901429USP9Yc.5025T>A (p.Leu1675=)
n.5037T>A
c.4791T>A (p.Leu1597=)
c.5040T>A (p.Leu1680=)
Yg.12833691T>CCA519901431USP9Yc.5025T>C (p.Leu1675=)
n.5037T>C
c.4791T>C (p.Leu1597=)
c.5040T>C (p.Leu1680=)
Yg.12833691T>GCA519901432USP9Yc.5025T>G (p.Leu1675=)
n.5037T>G
c.4791T>G (p.Leu1597=)
c.5040T>G (p.Leu1680=)
Yg.12833692T>ACA414998611USP9Yc.5026T>A (p.Trp1676Arg)
n.5038T>A
c.4792T>A (p.Trp1598Arg)
c.5041T>A (p.Trp1681Arg)
Yg.12833692T>CCA414998612USP9Yc.5026T>C (p.Trp1676Arg)
n.5038T>C
c.4792T>C (p.Trp1598Arg)
c.5041T>C (p.Trp1681Arg)
Yg.12833692T>GCA414998614USP9Yc.5026T>G (p.Trp1676Gly)
n.5038T>G
c.4792T>G (p.Trp1598Gly)
c.5041T>G (p.Trp1681Gly)
Yg.12833693G>ACA414998617USP9Yc.5027G>A (p.Trp1676Ter)
n.5039G>A
c.4793G>A (p.Trp1598Ter)
c.5042G>A (p.Trp1681Ter)
Yg.12833693G>CCA414998618USP9Yc.5027G>C (p.Trp1676Ser)
n.5039G>C
c.4793G>C (p.Trp1598Ser)
c.5042G>C (p.Trp1681Ser)
Yg.12833693G>TCA414998619USP9Yc.5027G>T (p.Trp1676Leu)
n.5039G>T
c.4793G>T (p.Trp1598Leu)
c.5042G>T (p.Trp1681Leu)
Yg.12833694G>ACA414998621USP9Yc.5028G>A (p.Trp1676Ter)
n.5040G>A
c.4794G>A (p.Trp1598Ter)
c.5043G>A (p.Trp1681Ter)
Yg.12833694G>CCA414998623USP9Yc.5028G>C (p.Trp1676Cys)
n.5040G>C
c.4794G>C (p.Trp1598Cys)
c.5043G>C (p.Trp1681Cys)
Yg.12833694G>TCA414998625USP9Yc.5028G>T (p.Trp1676Cys)
n.5040G>T
c.4794G>T (p.Trp1598Cys)
c.5043G>T (p.Trp1681Cys)
Yg.12833695G>ACA414998627USP9Yc.5029G>A (p.Gly1677Ser)
n.5041G>A
c.4795G>A (p.Gly1599Ser)
c.5044G>A (p.Gly1682Ser)
Yg.12833695G>CCA414998628USP9Yc.5029G>C (p.Gly1677Arg)
n.5041G>C
c.4795G>C (p.Gly1599Arg)
c.5044G>C (p.Gly1682Arg)
Yg.12833695G>TCA414998630USP9Yc.5029G>T (p.Gly1677Cys)
n.5041G>T
c.4795G>T (p.Gly1599Cys)
c.5044G>T (p.Gly1682Cys)
Yg.12833696G>ACA414998634USP9Yc.5030G>A (p.Gly1677Asp)
n.5042G>A
c.4796G>A (p.Gly1599Asp)
c.5045G>A (p.Gly1682Asp)
Yg.12833696G>CCA414998636USP9Yc.5030G>C (p.Gly1677Ala)
n.5042G>C
c.4796G>C (p.Gly1599Ala)
c.5045G>C (p.Gly1682Ala)
Yg.12833696G>TCA414998632USP9Yc.5030G>T (p.Gly1677Val)
n.5042G>T
c.4796G>T (p.Gly1599Val)
c.5045G>T (p.Gly1682Val)
Yg.12833697T>ACA519901450USP9Yc.5031T>A (p.Gly1677=)
n.5043T>A
c.4797T>A (p.Gly1599=)
c.5046T>A (p.Gly1682=)
Yg.12833697T>CCA519901452USP9Yc.5031T>C (p.Gly1677=)
n.5043T>C
c.4797T>C (p.Gly1599=)
c.5046T>C (p.Gly1682=)
Yg.12833697T>GCA519901453USP9Yc.5031T>G (p.Gly1677=)
n.5043T>G
c.4797T>G (p.Gly1599=)
c.5046T>G (p.Gly1682=)
Yg.12833698G>ACA414998638USP9Yc.5032G>A (p.Glu1678Lys)
n.5044G>A
c.4798G>A (p.Glu1600Lys)
c.5047G>A (p.Glu1683Lys)
Yg.12833698G>CCA414998640USP9Yc.5032G>C (p.Glu1678Gln)
n.5044G>C
c.4798G>C (p.Glu1600Gln)
c.5047G>C (p.Glu1683Gln)
Yg.12833698G>TCA414998642USP9Yc.5032G>T (p.Glu1678Ter)
n.5044G>T
c.4798G>T (p.Glu1600Ter)
c.5047G>T (p.Glu1683Ter)
Yg.12833699A>CCA414998645USP9Yc.5033A>C (p.Glu1678Ala)
n.5045A>C
c.4799A>C (p.Glu1600Ala)
c.5048A>C (p.Glu1683Ala)
Yg.12833699A>GCA414998646USP9Yc.5033A>G (p.Glu1678Gly)
n.5045A>G
c.4799A>G (p.Glu1600Gly)
c.5048A>G (p.Glu1683Gly)
Yg.12833699A>TCA414998648USP9Yc.5033A>T (p.Glu1678Val)
n.5045A>T
c.4799A>T (p.Glu1600Val)
c.5048A>T (p.Glu1683Val)
Yg.12833700A>CCA414998651USP9Yc.5034A>C (p.Glu1678Asp)
n.5046A>C
c.4800A>C (p.Glu1600Asp)
c.5049A>C (p.Glu1683Asp)
Yg.12833700A>GCA519901463USP9Yc.5034A>G (p.Glu1678=)
n.5046A>G
c.4800A>G (p.Glu1600=)
c.5049A>G (p.Glu1683=)
Yg.12833700A>TCA414998650USP9Yc.5034A>T (p.Glu1678Asp)
n.5046A>T
c.4800A>T (p.Glu1600Asp)
c.5049A>T (p.Glu1683Asp)
Yg.12833701C>ACA414998653USP9Yc.5035C>A (p.Pro1679Thr)
n.5047C>A
c.4801C>A (p.Pro1601Thr)
c.5050C>A (p.Pro1684Thr)
Yg.12833701C>GCA414998655USP9Yc.5035C>G (p.Pro1679Ala)
n.5047C>G
c.4801C>G (p.Pro1601Ala)
c.5050C>G (p.Pro1684Ala)
Yg.12833701C>TCA414998657USP9Yc.5035C>T (p.Pro1679Ser)
n.5047C>T
c.4801C>T (p.Pro1601Ser)
c.5050C>T (p.Pro1684Ser)
Yg.12833702C>ACA337720909USP9Yc.5036C>A (p.Pro1679His)
n.5048C>A
c.4802C>A (p.Pro1601His)
c.5051C>A (p.Pro1684His)
dbSNP
Yg.12833702C=CA2470560445USP9Yc.5036C= (p.Pro1679=)
n.5048C=
c.4802C= (p.Pro1601=)
c.5051C= (p.Pro1684=)
Yg.12833702C>GCA414998660USP9Yc.5036C>G (p.Pro1679Arg)
n.5048C>G
c.4802C>G (p.Pro1601Arg)
c.5051C>G (p.Pro1684Arg)
Yg.12833702C>TCA414998662USP9Yc.5036C>T (p.Pro1679Leu)
n.5048C>T
c.4802C>T (p.Pro1601Leu)
c.5051C>T (p.Pro1684Leu)
Yg.12833703T>ACA519901471USP9Yc.5037T>A (p.Pro1679=)
n.5049T>A
c.4803T>A (p.Pro1601=)
c.5052T>A (p.Pro1684=)
Yg.12833703T>CCA519901474USP9Yc.5037T>C (p.Pro1679=)
n.5049T>C
c.4803T>C (p.Pro1601=)
c.5052T>C (p.Pro1684=)
Yg.12833703T>GCA519901475USP9Yc.5037T>G (p.Pro1679=)
n.5049T>G
c.4803T>G (p.Pro1601=)
c.5052T>G (p.Pro1684=)
Yg.12833704G>ACA414998665USP9Yc.5038G>A (p.Val1680Ile)
n.5050G>A
c.4804G>A (p.Val1602Ile)
c.5053G>A (p.Val1685Ile)
Yg.12833704G>CCA414998668USP9Yc.5038G>C (p.Val1680Leu)
n.5050G>C
c.4804G>C (p.Val1602Leu)
c.5053G>C (p.Val1685Leu)
Yg.12833704G>TCA414998666USP9Yc.5038G>T (p.Val1680Phe)
n.5050G>T
c.4804G>T (p.Val1602Phe)
c.5053G>T (p.Val1685Phe)
Yg.12833705T>ACA414998670USP9Yc.5039T>A (p.Val1680Asp)
n.5051T>A
c.4805T>A (p.Val1602Asp)
c.5054T>A (p.Val1685Asp)
Yg.12833705T>CCA414998671USP9Yc.5039T>C (p.Val1680Ala)
n.5051T>C
c.4805T>C (p.Val1602Ala)
c.5054T>C (p.Val1685Ala)
Yg.12833705T>GCA414998673USP9Yc.5039T>G (p.Val1680Gly)
n.5051T>G
c.4805T>G (p.Val1602Gly)
c.5054T>G (p.Val1685Gly)
Yg.12833706T>ACA519901486USP9Yc.5040T>A (p.Val1680=)
n.5052T>A
c.4806T>A (p.Val1602=)
c.5055T>A (p.Val1685=)
Yg.12833706T>CCA519901484USP9Yc.5040T>C (p.Val1680=)
n.5052T>C
c.4806T>C (p.Val1602=)
c.5055T>C (p.Val1685=)
Yg.12833706T>GCA519901482USP9Yc.5040T>G (p.Val1680=)
n.5052T>G
c.4806T>G (p.Val1602=)
c.5055T>G (p.Val1685=)
Yg.12833707A>CCA414998675USP9Yc.5041A>C (p.Asn1681His)
n.5053A>C
c.4807A>C (p.Asn1603His)
c.5056A>C (p.Asn1686His)
Yg.12833707A>GCA414998677USP9Yc.5041A>G (p.Asn1681Asp)
n.5053A>G
c.4807A>G (p.Asn1603Asp)
c.5056A>G (p.Asn1686Asp)
Yg.12833707A>TCA414998678USP9Yc.5041A>T (p.Asn1681Tyr)
n.5053A>T
c.4807A>T (p.Asn1603Tyr)
c.5056A>T (p.Asn1686Tyr)
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)

Number of alleles fetched