Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.63486597_63486617delCA2639263163ACEc.2099_2119del (p.Tyr700_Lys706del)
c.377_397del (p.Tyr126_Lys132del)
c.*169_*189del (n.*169_*189del)
c.280_300del (n.280_300del)
c.661_681del
c.*19_*39del (n.*19_*39del)
c.1550_1570del (p.Tyr517_Lys523del)
c.437_457del (p.Tyr146_Lys152del)
c.1532_1552del (p.Tyr511_Lys517del)
c.1247_1267del (p.Tyr416_Lys422del)
c.29_49del (p.Tyr10_Lys16del)
n.399_419del
 gnomAD v4
17g.63486604C>ACA501184123ACEc.2106C>A (p.Thr702=)
c.384C>A (p.Thr128=)
c.*176C>A (n.*176C>A)
c.287C>A (n.287C>A)
c.668C>A
c.*26C>A (n.*26C>A)
c.1557C>A (p.Thr519=)
c.444C>A (p.Thr148=)
c.1539C>A (p.Thr513=)
c.1254C>A (p.Thr418=)
c.36C>A (p.Thr12=)
n.406C>A
17g.63486604C>GCA501184120ACEc.2106C>G (p.Thr702=)
c.384C>G (p.Thr128=)
c.*176C>G (n.*176C>G)
c.287C>G (n.287C>G)
c.668C>G
c.*26C>G (n.*26C>G)
c.1557C>G (p.Thr519=)
c.444C>G (p.Thr148=)
c.1539C>G (p.Thr513=)
c.1254C>G (p.Thr418=)
c.36C>G (p.Thr12=)
n.406C>G
17g.63486604C>TCA501184122ACEc.2106C>T (p.Thr702=)
c.384C>T (p.Thr128=)
c.*176C>T (n.*176C>T)
c.287C>T (n.287C>T)
c.668C>T
c.*26C>T (n.*26C>T)
c.1557C>T (p.Thr519=)
c.444C>T (p.Thr148=)
c.1539C>T (p.Thr513=)
c.1254C>T (p.Thr418=)
c.36C>T (p.Thr12=)
n.406C>T
17g.63486605C>ACA400555842ACEc.2107C>A (p.Gln703Lys)
c.385C>A (p.Gln129Lys)
c.*177C>A (n.*177C>A)
c.288C>A (n.288C>A)
c.669C>A
c.*27C>A (n.*27C>A)
c.1558C>A (p.Gln520Lys)
c.445C>A (p.Gln149Lys)
c.1540C>A (p.Gln514Lys)
c.1255C>A (p.Gln419Lys)
c.37C>A (p.Gln13Lys)
n.407C>A
17g.63486605C>GCA400555837ACEc.2107C>G (p.Gln703Glu)
c.385C>G (p.Gln129Glu)
c.*177C>G (n.*177C>G)
c.288C>G (n.288C>G)
c.669C>G
c.*27C>G (n.*27C>G)
c.1558C>G (p.Gln520Glu)
c.445C>G (p.Gln149Glu)
c.1540C>G (p.Gln514Glu)
c.1255C>G (p.Gln419Glu)
c.37C>G (p.Gln13Glu)
n.407C>G
17g.63486605C>TCA400555839ACEc.2107C>T (p.Gln703Ter)
c.385C>T (p.Gln129Ter)
c.*177C>T (n.*177C>T)
c.288C>T (n.288C>T)
c.669C>T
c.*27C>T (n.*27C>T)
c.1558C>T (p.Gln520Ter)
c.445C>T (p.Gln149Ter)
c.1540C>T (p.Gln514Ter)
c.1255C>T (p.Gln419Ter)
c.37C>T (p.Gln13Ter)
n.407C>T
17g.63486606A>CCA400555845ACEc.2108A>C (p.Gln703Pro)
c.386A>C (p.Gln129Pro)
c.*178A>C (n.*178A>C)
c.289A>C (n.289A>C)
c.670A>C
c.*28A>C (n.*28A>C)
c.1559A>C (p.Gln520Pro)
c.446A>C (p.Gln149Pro)
c.1541A>C (p.Gln514Pro)
c.1256A>C (p.Gln419Pro)
c.38A>C (p.Gln13Pro)
n.408A>C
17g.63486606A>GCA400555847ACEc.2108A>G (p.Gln703Arg)
c.386A>G (p.Gln129Arg)
c.*178A>G (n.*178A>G)
c.289A>G (n.289A>G)
c.670A>G
c.*28A>G (n.*28A>G)
c.1559A>G (p.Gln520Arg)
c.446A>G (p.Gln149Arg)
c.1541A>G (p.Gln514Arg)
c.1256A>G (p.Gln419Arg)
c.38A>G (p.Gln13Arg)
n.408A>G
 gnomAD v4
17g.63486606A>TCA400555850ACEc.2108A>T (p.Gln703Leu)
c.386A>T (p.Gln129Leu)
c.*178A>T (n.*178A>T)
c.289A>T (n.289A>T)
c.670A>T
c.*28A>T (n.*28A>T)
c.1559A>T (p.Gln520Leu)
c.446A>T (p.Gln149Leu)
c.1541A>T (p.Gln514Leu)
c.1256A>T (p.Gln419Leu)
c.38A>T (p.Gln13Leu)
n.408A>T
17g.63486607G>ACA501184133ACEc.2109G>A (p.Gln703=)
c.387G>A (p.Gln129=)
c.*179G>A (n.*179G>A)
c.290G>A (n.290G>A)
c.671G>A
c.*29G>A (n.*29G>A)
c.1560G>A (p.Gln520=)
c.447G>A (p.Gln149=)
c.1542G>A (p.Gln514=)
c.1257G>A (p.Gln419=)
c.39G>A (p.Gln13=)
n.409G>A
17g.63486607G>CCA8699940ACEc.2109G>C (p.Gln703His)
c.387G>C (p.Gln129His)
c.*179G>C (n.*179G>C)
c.290G>C (n.290G>C)
c.671G>C
c.*29G>C (n.*29G>C)
c.1560G>C (p.Gln520His)
c.447G>C (p.Gln149His)
c.1542G>C (p.Gln514His)
c.1257G>C (p.Gln419His)
c.39G>C (p.Gln13His)
n.409G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486607G=CA2269944845ACEc.2109G= (p.Gln703=)
c.387G= (p.Gln129=)
c.*179G= (n.*179G=)
c.290G= (n.290G=)
c.671G=
c.*29G= (n.*29G=)
c.1560G= (p.Gln520=)
c.447G= (p.Gln149=)
c.1542G= (p.Gln514=)
c.1257G= (p.Gln419=)
c.39G= (p.Gln13=)
n.409G=
17g.63486607G>TCA400555855ACEc.2109G>T (p.Gln703His)
c.387G>T (p.Gln129His)
c.*179G>T (n.*179G>T)
c.290G>T (n.290G>T)
c.671G>T
c.*29G>T (n.*29G>T)
c.1560G>T (p.Gln520His)
c.447G>T (p.Gln149His)
c.1542G>T (p.Gln514His)
c.1257G>T (p.Gln419His)
c.39G>T (p.Gln13His)
n.409G>T
17g.63486608G>ACA400555859ACEc.2110G>A (p.Ala704Thr)
c.388G>A (p.Ala130Thr)
c.*180G>A (n.*180G>A)
c.291G>A (n.291G>A)
c.672G>A
c.*30G>A (n.*30G>A)
c.1561G>A (p.Ala521Thr)
c.448G>A (p.Ala150Thr)
c.1543G>A (p.Ala515Thr)
c.1258G>A (p.Ala420Thr)
c.40G>A (p.Ala14Thr)
n.410G>A
17g.63486608G>CCA400555861ACEc.2110G>C (p.Ala704Pro)
c.388G>C (p.Ala130Pro)
c.*180G>C (n.*180G>C)
c.291G>C (n.291G>C)
c.672G>C
c.*30G>C (n.*30G>C)
c.1561G>C (p.Ala521Pro)
c.448G>C (p.Ala150Pro)
c.1543G>C (p.Ala515Pro)
c.1258G>C (p.Ala420Pro)
c.40G>C (p.Ala14Pro)
n.410G>C
17g.63486608G>TCA400555863ACEc.2110G>T (p.Ala704Ser)
c.388G>T (p.Ala130Ser)
c.*180G>T (n.*180G>T)
c.291G>T (n.291G>T)
c.672G>T
c.*30G>T (n.*30G>T)
c.1561G>T (p.Ala521Ser)
c.448G>T (p.Ala150Ser)
c.1543G>T (p.Ala515Ser)
c.1258G>T (p.Ala420Ser)
c.40G>T (p.Ala14Ser)
n.410G>T
17g.63486609C>ACA400555867ACEc.2111C>A (p.Ala704Asp)
c.389C>A (p.Ala130Asp)
c.*181C>A (n.*181C>A)
c.292C>A (n.292C>A)
c.673C>A
c.*31C>A (n.*31C>A)
c.1562C>A (p.Ala521Asp)
c.449C>A (p.Ala150Asp)
c.1544C>A (p.Ala515Asp)
c.1259C>A (p.Ala420Asp)
c.41C>A (p.Ala14Asp)
n.411C>A
17g.63486609C=CA2269944846ACEc.2111C= (p.Ala704=)
c.389C= (p.Ala130=)
c.*181C= (n.*181C=)
c.292C= (n.292C=)
c.673C=
c.*31C= (n.*31C=)
c.1562C= (p.Ala521=)
c.449C= (p.Ala150=)
c.1544C= (p.Ala515=)
c.1259C= (p.Ala420=)
c.41C= (p.Ala14=)
n.411C=
17g.63486609C>GCA400555868ACEc.2111C>G (p.Ala704Gly)
c.389C>G (p.Ala130Gly)
c.*181C>G (n.*181C>G)
c.292C>G (n.292C>G)
c.673C>G
c.*31C>G (n.*31C>G)
c.1562C>G (p.Ala521Gly)
c.449C>G (p.Ala150Gly)
c.1544C>G (p.Ala515Gly)
c.1259C>G (p.Ala420Gly)
c.41C>G (p.Ala14Gly)
n.411C>G
17g.63486609C>TCA8699941ACEc.2111C>T (p.Ala704Val)
c.389C>T (p.Ala130Val)
c.*181C>T (n.*181C>T)
c.292C>T (n.292C>T)
c.673C>T
c.*31C>T (n.*31C>T)
c.1562C>T (p.Ala521Val)
c.449C>T (p.Ala150Val)
c.1544C>T (p.Ala515Val)
c.1259C>T (p.Ala420Val)
c.41C>T (p.Ala14Val)
n.411C>T
 dbSNP ExAC gnomAD v4
17g.63486610C>ACA501184147ACEc.2112C>A (p.Ala704=)
c.390C>A (p.Ala130=)
c.*182C>A (n.*182C>A)
c.293C>A (n.293C>A)
c.674C>A
c.*32C>A (n.*32C>A)
c.1563C>A (p.Ala521=)
c.450C>A (p.Ala150=)
c.1545C>A (p.Ala515=)
c.1260C>A (p.Ala420=)
c.42C>A (p.Ala14=)
n.412C>A
17g.63486610C>GCA501184148ACEc.2112C>G (p.Ala704=)
c.390C>G (p.Ala130=)
c.*182C>G (n.*182C>G)
c.293C>G (n.293C>G)
c.674C>G
c.*32C>G (n.*32C>G)
c.1563C>G (p.Ala521=)
c.450C>G (p.Ala150=)
c.1545C>G (p.Ala515=)
c.1260C>G (p.Ala420=)
c.42C>G (p.Ala14=)
n.412C>G
17g.63486610C>TCA501184150ACEc.2112C>T (p.Ala704=)
c.390C>T (p.Ala130=)
c.*182C>T (n.*182C>T)
c.293C>T (n.293C>T)
c.674C>T
c.*32C>T (n.*32C>T)
c.1563C>T (p.Ala521=)
c.450C>T (p.Ala150=)
c.1545C>T (p.Ala515=)
c.1260C>T (p.Ala420=)
c.42C>T (p.Ala14=)
n.412C>T
17g.63486611A=CA2269944847ACEc.2113A= (p.Arg705=)
c.391A= (p.Arg131=)
c.*183A= (n.*183A=)
c.294A= (n.294A=)
c.675A=
c.*33A= (n.*33A=)
c.1564A= (p.Arg522=)
c.451A= (p.Arg151=)
c.1546A= (p.Arg516=)
c.1261A= (p.Arg421=)
c.43A= (p.Arg15=)
n.413A=
17g.63486611A>CCA501184153ACEc.2113A>C (p.Arg705=)
c.391A>C (p.Arg131=)
c.*183A>C (n.*183A>C)
c.294A>C (n.294A>C)
c.675A>C
c.*33A>C (n.*33A>C)
c.1564A>C (p.Arg522=)
c.451A>C (p.Arg151=)
c.1546A>C (p.Arg516=)
c.1261A>C (p.Arg421=)
c.43A>C (p.Arg15=)
n.413A>C
17g.63486611A>GCA400555871ACEc.2113A>G (p.Arg705Gly)
c.391A>G (p.Arg131Gly)
c.*183A>G (n.*183A>G)
c.294A>G (n.294A>G)
c.675A>G
c.*33A>G (n.*33A>G)
c.1564A>G (p.Arg522Gly)
c.451A>G (p.Arg151Gly)
c.1546A>G (p.Arg516Gly)
c.1261A>G (p.Arg421Gly)
c.43A>G (p.Arg15Gly)
n.413A>G
 dbSNP gnomAD v3 gnomAD v4
17g.63486611A>TCA400555873ACEc.2113A>T (p.Arg705Trp)
c.391A>T (p.Arg131Trp)
c.*183A>T (n.*183A>T)
c.294A>T (n.294A>T)
c.675A>T
c.*33A>T (n.*33A>T)
c.1564A>T (p.Arg522Trp)
c.451A>T (p.Arg151Trp)
c.1546A>T (p.Arg516Trp)
c.1261A>T (p.Arg421Trp)
c.43A>T (p.Arg15Trp)
n.413A>T
17g.63486612G>ACA400555881ACEc.2114G>A (p.Arg705Lys)
c.392G>A (p.Arg131Lys)
c.*184G>A (n.*184G>A)
c.295G>A (n.295G>A)
c.676G>A
c.*34G>A (n.*34G>A)
c.1565G>A (p.Arg522Lys)
c.452G>A (p.Arg151Lys)
c.1547G>A (p.Arg516Lys)
c.1262G>A (p.Arg421Lys)
c.44G>A (p.Arg15Lys)
n.414G>A
 dbSNP
17g.63486612G>CCA400555879ACEc.2114G>C (p.Arg705Thr)
c.392G>C (p.Arg131Thr)
c.*184G>C (n.*184G>C)
c.295G>C (n.295G>C)
c.676G>C
c.*34G>C (n.*34G>C)
c.1565G>C (p.Arg522Thr)
c.452G>C (p.Arg151Thr)
c.1547G>C (p.Arg516Thr)
c.1262G>C (p.Arg421Thr)
c.44G>C (p.Arg15Thr)
n.414G>C
 COSMIC COSMIC COSMIC
17g.63486612G=CA2269944848ACEc.2114G= (p.Arg705=)
c.392G= (p.Arg131=)
c.*184G= (n.*184G=)
c.295G= (n.295G=)
c.676G=
c.*34G= (n.*34G=)
c.1565G= (p.Arg522=)
c.452G= (p.Arg151=)
c.1547G= (p.Arg516=)
c.1262G= (p.Arg421=)
c.44G= (p.Arg15=)
n.414G=
17g.63486612G>TCA400555877ACEc.2114G>T (p.Arg705Met)
c.392G>T (p.Arg131Met)
c.*184G>T (n.*184G>T)
c.295G>T (n.295G>T)
c.676G>T
c.*34G>T (n.*34G>T)
c.1565G>T (p.Arg522Met)
c.452G>T (p.Arg151Met)
c.1547G>T (p.Arg516Met)
c.1262G>T (p.Arg421Met)
c.44G>T (p.Arg15Met)
n.414G>T
17g.63486613delCA2810114342ACEc.2115del (p.Lys706SerfsTer4)
c.393del (p.Lys132SerfsTer4)
c.*185del (n.*185del)
c.296del (n.296del)
c.677del
c.*35del (n.*35del)
c.1566del (p.Lys523SerfsTer4)
c.453del (p.Lys152SerfsTer4)
c.1548del (p.Lys517SerfsTer4)
c.1263del (p.Lys422SerfsTer4)
c.45del (p.Lys16SerfsTer4)
n.415del
17g.63486613G>ACA501184162ACEc.2115G>A (p.Arg705=)
c.393G>A (p.Arg131=)
c.*185G>A (n.*185G>A)
c.296G>A (n.296G>A)
c.677G>A
c.*35G>A (n.*35G>A)
c.1566G>A (p.Arg522=)
c.453G>A (p.Arg151=)
c.1548G>A (p.Arg516=)
c.1263G>A (p.Arg421=)
c.45G>A (p.Arg15=)
n.415G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63486613G>CCA400555883ACEc.2115G>C (p.Arg705Ser)
c.393G>C (p.Arg131Ser)
c.*185G>C (n.*185G>C)
c.296G>C (n.296G>C)
c.677G>C
c.*35G>C (n.*35G>C)
c.1566G>C (p.Arg522Ser)
c.453G>C (p.Arg151Ser)
c.1548G>C (p.Arg516Ser)
c.1263G>C (p.Arg421Ser)
c.45G>C (p.Arg15Ser)
n.415G>C
17g.63486613G=CA2269944849ACEc.2115G= (p.Arg705=)
c.393G= (p.Arg131=)
c.*185G= (n.*185G=)
c.296G= (n.296G=)
c.677G=
c.*35G= (n.*35G=)
c.1566G= (p.Arg522=)
c.453G= (p.Arg151=)
c.1548G= (p.Arg516=)
c.1263G= (p.Arg421=)
c.45G= (p.Arg15=)
n.415G=
17g.63486613G>TCA400555885ACEc.2115G>T (p.Arg705Ser)
c.393G>T (p.Arg131Ser)
c.*185G>T (n.*185G>T)
c.296G>T (n.296G>T)
c.677G>T
c.*35G>T (n.*35G>T)
c.1566G>T (p.Arg522Ser)
c.453G>T (p.Arg151Ser)
c.1548G>T (p.Arg516Ser)
c.1263G>T (p.Arg421Ser)
c.45G>T (p.Arg15Ser)
n.415G>T
17g.63486614A=CA2269944850ACEc.2116A= (p.Lys706=)
c.394A= (p.Lys132=)
c.*186A= (n.*186A=)
c.297A= (n.297A=)
c.678A=
c.*36A= (n.*36A=)
c.1567A= (p.Lys523=)
c.454A= (p.Lys152=)
c.1549A= (p.Lys517=)
c.1264A= (p.Lys422=)
c.46A= (p.Lys16=)
n.416A=
17g.63486614A>CCA400555887ACEc.2116A>C (p.Lys706Gln)
c.394A>C (p.Lys132Gln)
c.*186A>C (n.*186A>C)
c.297A>C (n.297A>C)
c.678A>C
c.*36A>C (n.*36A>C)
c.1567A>C (p.Lys523Gln)
c.454A>C (p.Lys152Gln)
c.1549A>C (p.Lys517Gln)
c.1264A>C (p.Lys422Gln)
c.46A>C (p.Lys16Gln)
n.416A>C
17g.63486614A>GCA400555889ACEc.2116A>G (p.Lys706Glu)
c.394A>G (p.Lys132Glu)
c.*186A>G (n.*186A>G)
c.297A>G (n.297A>G)
c.678A>G
c.*36A>G (n.*36A>G)
c.1567A>G (p.Lys523Glu)
c.454A>G (p.Lys152Glu)
c.1549A>G (p.Lys517Glu)
c.1264A>G (p.Lys422Glu)
c.46A>G (p.Lys16Glu)
n.416A>G
17g.63486614A>TCA400555891ACEc.2116A>T (p.Lys706Ter)
c.394A>T (p.Lys132Ter)
c.*186A>T (n.*186A>T)
c.297A>T (n.297A>T)
c.678A>T
c.*36A>T (n.*36A>T)
c.1567A>T (p.Lys523Ter)
c.454A>T (p.Lys152Ter)
c.1549A>T (p.Lys517Ter)
c.1264A>T (p.Lys422Ter)
c.46A>T (p.Lys16Ter)
n.416A>T
 dbSNP
17g.63486615A=CA2269944851ACEc.2117A= (p.Lys706=)
c.395A= (p.Lys132=)
c.*187A= (n.*187A=)
c.298A= (n.298A=)
c.679A=
c.*37A= (n.*37A=)
c.1568A= (p.Lys523=)
c.455A= (p.Lys152=)
c.1550A= (p.Lys517=)
c.1265A= (p.Lys422=)
c.47A= (p.Lys16=)
n.417A=
17g.63486615A>CCA400555893ACEc.2117A>C (p.Lys706Thr)
c.395A>C (p.Lys132Thr)
c.*187A>C (n.*187A>C)
c.298A>C (n.298A>C)
c.679A>C
c.*37A>C (n.*37A>C)
c.1568A>C (p.Lys523Thr)
c.455A>C (p.Lys152Thr)
c.1550A>C (p.Lys517Thr)
c.1265A>C (p.Lys422Thr)
c.47A>C (p.Lys16Thr)
n.417A>C
17g.63486615A>GCA8699942ACEc.2117A>G (p.Lys706Arg)
c.395A>G (p.Lys132Arg)
c.*187A>G (n.*187A>G)
c.298A>G (n.298A>G)
c.679A>G
c.*37A>G (n.*37A>G)
c.1568A>G (p.Lys523Arg)
c.455A>G (p.Lys152Arg)
c.1550A>G (p.Lys517Arg)
c.1265A>G (p.Lys422Arg)
c.47A>G (p.Lys16Arg)
n.417A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63486615A>TCA400555896ACEc.2117A>T (p.Lys706Met)
c.395A>T (p.Lys132Met)
c.*187A>T (n.*187A>T)
c.298A>T (n.298A>T)
c.679A>T
c.*37A>T (n.*37A>T)
c.1568A>T (p.Lys523Met)
c.455A>T (p.Lys152Met)
c.1550A>T (p.Lys517Met)
c.1265A>T (p.Lys422Met)
c.47A>T (p.Lys16Met)
n.417A>T
17g.63486616G>ACA501184179ACEc.2118G>A (p.Lys706=)
c.396G>A (p.Lys132=)
c.*188G>A (n.*188G>A)
c.299G>A (n.299G>A)
c.680G>A
c.*38G>A (n.*38G>A)
c.1569G>A (p.Lys523=)
c.456G>A (p.Lys152=)
c.1551G>A (p.Lys517=)
c.1266G>A (p.Lys422=)
c.48G>A (p.Lys16=)
n.418G>A
 gnomAD v4
17g.63486616G>CCA400555899ACEc.2118G>C (p.Lys706Asn)
c.396G>C (p.Lys132Asn)
c.*188G>C (n.*188G>C)
c.299G>C (n.299G>C)
c.680G>C
c.*38G>C (n.*38G>C)
c.1569G>C (p.Lys523Asn)
c.456G>C (p.Lys152Asn)
c.1551G>C (p.Lys517Asn)
c.1266G>C (p.Lys422Asn)
c.48G>C (p.Lys16Asn)
n.418G>C
17g.63486616G>TCA400555901ACEc.2118G>T (p.Lys706Asn)
c.396G>T (p.Lys132Asn)
c.*188G>T (n.*188G>T)
c.299G>T (n.299G>T)
c.680G>T
c.*38G>T (n.*38G>T)
c.1569G>T (p.Lys523Asn)
c.456G>T (p.Lys152Asn)
c.1551G>T (p.Lys517Asn)
c.1266G>T (p.Lys422Asn)
c.48G>T (p.Lys16Asn)
n.418G>T
17g.63486617T>ACA400555904ACEc.2119T>A (p.Phe707Ile)
c.397T>A (p.Phe133Ile)
c.*189T>A (n.*189T>A)
c.300T>A (n.300T>A)
c.681T>A
c.*39T>A (n.*39T>A)
c.1570T>A (p.Phe524Ile)
c.457T>A (p.Phe153Ile)
c.1552T>A (p.Phe518Ile)
c.1267T>A (p.Phe423Ile)
c.49T>A (p.Phe17Ile)
n.419T>A
17g.63486617T>CCA400555906ACEc.2119T>C (p.Phe707Leu)
c.397T>C (p.Phe133Leu)
c.*189T>C (n.*189T>C)
c.300T>C (n.300T>C)
c.681T>C
c.*39T>C (n.*39T>C)
c.1570T>C (p.Phe524Leu)
c.457T>C (p.Phe153Leu)
c.1552T>C (p.Phe518Leu)
c.1267T>C (p.Phe423Leu)
c.49T>C (p.Phe17Leu)
n.419T>C
17g.63486617T>GCA400555908ACEc.2119T>G (p.Phe707Val)
c.397T>G (p.Phe133Val)
c.*189T>G (n.*189T>G)
c.300T>G (n.300T>G)
c.681T>G
c.*39T>G (n.*39T>G)
c.1570T>G (p.Phe524Val)
c.457T>G (p.Phe153Val)
c.1552T>G (p.Phe518Val)
c.1267T>G (p.Phe423Val)
c.49T>G (p.Phe17Val)
n.419T>G
17g.63486618T>ACA400555915ACEc.2120T>A (p.Phe707Tyr)
c.398T>A (p.Phe133Tyr)
c.*190T>A (n.*190T>A)
c.301T>A (n.301T>A)
c.682T>A
c.*40T>A (n.*40T>A)
c.1571T>A (p.Phe524Tyr)
c.458T>A (p.Phe153Tyr)
c.1553T>A (p.Phe518Tyr)
c.1268T>A (p.Phe423Tyr)
c.50T>A (p.Phe17Tyr)
n.420T>A
17g.63486618T>CCA400555917ACEc.2120T>C (p.Phe707Ser)
c.398T>C (p.Phe133Ser)
c.*190T>C (n.*190T>C)
c.301T>C (n.301T>C)
c.682T>C
c.*40T>C (n.*40T>C)
c.1571T>C (p.Phe524Ser)
c.458T>C (p.Phe153Ser)
c.1553T>C (p.Phe518Ser)
c.1268T>C (p.Phe423Ser)
c.50T>C (p.Phe17Ser)
n.420T>C
17g.63486618T>GCA400555913ACEc.2120T>G (p.Phe707Cys)
c.398T>G (p.Phe133Cys)
c.*190T>G (n.*190T>G)
c.301T>G (n.301T>G)
c.682T>G
c.*40T>G (n.*40T>G)
c.1571T>G (p.Phe524Cys)
c.458T>G (p.Phe153Cys)
c.1553T>G (p.Phe518Cys)
c.1268T>G (p.Phe423Cys)
c.50T>G (p.Phe17Cys)
n.420T>G
17g.63486619T>ACA400555919ACEc.2121T>A (p.Phe707Leu)
c.399T>A (p.Phe133Leu)
c.*191T>A (n.*191T>A)
c.302T>A (n.302T>A)
c.683T>A
c.*41T>A (n.*41T>A)
c.1572T>A (p.Phe524Leu)
c.459T>A (p.Phe153Leu)
c.1554T>A (p.Phe518Leu)
c.1269T>A (p.Phe423Leu)
c.51T>A (p.Phe17Leu)
n.421T>A
17g.63486619T>CCA501184194ACEc.2121T>C (p.Phe707=)
c.399T>C (p.Phe133=)
c.*191T>C (n.*191T>C)
c.302T>C (n.302T>C)
c.683T>C
c.*41T>C (n.*41T>C)
c.1572T>C (p.Phe524=)
c.459T>C (p.Phe153=)
c.1554T>C (p.Phe518=)
c.1269T>C (p.Phe423=)
c.51T>C (p.Phe17=)
n.421T>C
17g.63486619T>GCA400555921ACEc.2121T>G (p.Phe707Leu)
c.399T>G (p.Phe133Leu)
c.*191T>G (n.*191T>G)
c.302T>G (n.302T>G)
c.683T>G
c.*41T>G (n.*41T>G)
c.1572T>G (p.Phe524Leu)
c.459T>G (p.Phe153Leu)
c.1554T>G (p.Phe518Leu)
c.1269T>G (p.Phe423Leu)
c.51T>G (p.Phe17Leu)
n.421T>G
17g.63486620G>ACA400555924ACEc.2122G>A (p.Asp708Asn)
c.400G>A (p.Asp134Asn)
c.*192G>A (n.*192G>A)
c.303G>A (n.303G>A)
c.684G>A
c.*42G>A (n.*42G>A)
c.1573G>A (p.Asp525Asn)
c.460G>A (p.Asp154Asn)
c.1555G>A (p.Asp519Asn)
c.1270G>A (p.Asp424Asn)
c.52G>A (p.Asp18Asn)
n.422G>A
 dbSNP gnomAD v2
17g.63486620G>CCA400555926ACEc.2122G>C (p.Asp708His)
c.400G>C (p.Asp134His)
c.*192G>C (n.*192G>C)
c.303G>C (n.303G>C)
c.684G>C
c.*42G>C (n.*42G>C)
c.1573G>C (p.Asp525His)
c.460G>C (p.Asp154His)
c.1555G>C (p.Asp519His)
c.1270G>C (p.Asp424His)
c.52G>C (p.Asp18His)
n.422G>C
17g.63486620G=CA2269944852ACEc.2122G= (p.Asp708=)
c.400G= (p.Asp134=)
c.*192G= (n.*192G=)
c.303G= (n.303G=)
c.684G=
c.*42G= (n.*42G=)
c.1573G= (p.Asp525=)
c.460G= (p.Asp154=)
c.1555G= (p.Asp519=)
c.1270G= (p.Asp424=)
c.52G= (p.Asp18=)
n.422G=
17g.63486620G>TCA400555929ACEc.2122G>T (p.Asp708Tyr)
c.400G>T (p.Asp134Tyr)
c.*192G>T (n.*192G>T)
c.303G>T (n.303G>T)
c.684G>T
c.*42G>T (n.*42G>T)
c.1573G>T (p.Asp525Tyr)
c.460G>T (p.Asp154Tyr)
c.1555G>T (p.Asp519Tyr)
c.1270G>T (p.Asp424Tyr)
c.52G>T (p.Asp18Tyr)
n.422G>T
17g.63486621A>CCA400555932ACEc.2123A>C (p.Asp708Ala)
c.401A>C (p.Asp134Ala)
c.*193A>C (n.*193A>C)
c.304A>C (n.304A>C)
c.685A>C
c.*43A>C (n.*43A>C)
c.1574A>C (p.Asp525Ala)
c.461A>C (p.Asp154Ala)
c.1556A>C (p.Asp519Ala)
c.1271A>C (p.Asp424Ala)
c.53A>C (p.Asp18Ala)
n.423A>C
17g.63486621A>GCA400555934ACEc.2123A>G (p.Asp708Gly)
c.401A>G (p.Asp134Gly)
c.*193A>G (n.*193A>G)
c.304A>G (n.304A>G)
c.685A>G
c.*43A>G (n.*43A>G)
c.1574A>G (p.Asp525Gly)
c.461A>G (p.Asp154Gly)
c.1556A>G (p.Asp519Gly)
c.1271A>G (p.Asp424Gly)
c.53A>G (p.Asp18Gly)
n.423A>G
17g.63486621A>TCA400555936ACEc.2123A>T (p.Asp708Val)
c.401A>T (p.Asp134Val)
c.*193A>T (n.*193A>T)
c.304A>T (n.304A>T)
c.685A>T
c.*43A>T (n.*43A>T)
c.1574A>T (p.Asp525Val)
c.461A>T (p.Asp154Val)
c.1556A>T (p.Asp519Val)
c.1271A>T (p.Asp424Val)
c.53A>T (p.Asp18Val)
n.423A>T
17g.63486622T>ACA400555938ACEc.2124T>A (p.Asp708Glu)
c.402T>A (p.Asp134Glu)
c.*194T>A (n.*194T>A)
c.305T>A (n.305T>A)
c.686T>A
c.*44T>A (n.*44T>A)
c.1575T>A (p.Asp525Glu)
c.462T>A (p.Asp154Glu)
c.1557T>A (p.Asp519Glu)
c.1272T>A (p.Asp424Glu)
c.54T>A (p.Asp18Glu)
n.424T>A
17g.63486622T>CCA501184211ACEc.2124T>C (p.Asp708=)
c.402T>C (p.Asp134=)
c.*194T>C (n.*194T>C)
c.305T>C (n.305T>C)
c.686T>C
c.*44T>C (n.*44T>C)
c.1575T>C (p.Asp525=)
c.462T>C (p.Asp154=)
c.1557T>C (p.Asp519=)
c.1272T>C (p.Asp424=)
c.54T>C (p.Asp18=)
n.424T>C
17g.63486622T>GCA400555941ACEc.2124T>G (p.Asp708Glu)
c.402T>G (p.Asp134Glu)
c.*194T>G (n.*194T>G)
c.305T>G (n.305T>G)
c.686T>G
c.*44T>G (n.*44T>G)
c.1575T>G (p.Asp525Glu)
c.462T>G (p.Asp154Glu)
c.1557T>G (p.Asp519Glu)
c.1272T>G (p.Asp424Glu)
c.54T>G (p.Asp18Glu)
n.424T>G
17g.63486623G>ACA400555943ACEc.2125G>A (p.Val709Met)
c.403G>A (p.Val135Met)
c.*195G>A (n.*195G>A)
c.306G>A (n.306G>A)
c.687G>A
c.*45G>A (n.*45G>A)
c.1576G>A (p.Val526Met)
c.463G>A (p.Val155Met)
c.1558G>A (p.Val520Met)
c.1273G>A (p.Val425Met)
c.55G>A (p.Val19Met)
n.425G>A
17g.63486623G>CCA400555946ACEc.2125G>C (p.Val709Leu)
c.403G>C (p.Val135Leu)
c.*195G>C (n.*195G>C)
c.306G>C (n.306G>C)
c.687G>C
c.*45G>C (n.*45G>C)
c.1576G>C (p.Val526Leu)
c.463G>C (p.Val155Leu)
c.1558G>C (p.Val520Leu)
c.1273G>C (p.Val425Leu)
c.55G>C (p.Val19Leu)
n.425G>C
17g.63486623G>TCA400555948ACEc.2125G>T (p.Val709Leu)
c.403G>T (p.Val135Leu)
c.*195G>T (n.*195G>T)
c.306G>T (n.306G>T)
c.687G>T
c.*45G>T (n.*45G>T)
c.1576G>T (p.Val526Leu)
c.463G>T (p.Val155Leu)
c.1558G>T (p.Val520Leu)
c.1273G>T (p.Val425Leu)
c.55G>T (p.Val19Leu)
n.425G>T
17g.63486624T>ACA400555957ACEc.2126T>A (p.Val709Glu)
c.404T>A (p.Val135Glu)
c.*196T>A (n.*196T>A)
c.307T>A (n.307T>A)
c.688T>A
c.*46T>A (n.*46T>A)
c.1577T>A (p.Val526Glu)
c.464T>A (p.Val155Glu)
c.1559T>A (p.Val520Glu)
c.1274T>A (p.Val425Glu)
c.56T>A (p.Val19Glu)
n.426T>A
17g.63486624T>CCA400555955ACEc.2126T>C (p.Val709Ala)
c.404T>C (p.Val135Ala)
c.*196T>C (n.*196T>C)
c.307T>C (n.307T>C)
c.688T>C
c.*46T>C (n.*46T>C)
c.1577T>C (p.Val526Ala)
c.464T>C (p.Val155Ala)
c.1559T>C (p.Val520Ala)
c.1274T>C (p.Val425Ala)
c.56T>C (p.Val19Ala)
n.426T>C
 gnomAD v4
17g.63486624T>GCA400555952ACEc.2126T>G (p.Val709Gly)
c.404T>G (p.Val135Gly)
c.*196T>G (n.*196T>G)
c.307T>G (n.307T>G)
c.688T>G
c.*46T>G (n.*46T>G)
c.1577T>G (p.Val526Gly)
c.464T>G (p.Val155Gly)
c.1559T>G (p.Val520Gly)
c.1274T>G (p.Val425Gly)
c.56T>G (p.Val19Gly)
n.426T>G
17g.63486625G>ACA8699943ACEc.2127G>A (p.Val709=)
c.405G>A (p.Val135=)
c.*197G>A (n.*197G>A)
c.308G>A (n.308G>A)
c.689G>A
c.*47G>A (n.*47G>A)
c.1578G>A (p.Val526=)
c.465G>A (p.Val155=)
c.1560G>A (p.Val520=)
c.1275G>A (p.Val425=)
c.57G>A (p.Val19=)
n.427G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486625G>CCA501184224ACEc.2127G>C (p.Val709=)
c.405G>C (p.Val135=)
c.*197G>C (n.*197G>C)
c.308G>C (n.308G>C)
c.689G>C
c.*47G>C (n.*47G>C)
c.1578G>C (p.Val526=)
c.465G>C (p.Val155=)
c.1560G>C (p.Val520=)
c.1275G>C (p.Val425=)
c.57G>C (p.Val19=)
n.427G>C
17g.63486625G=CA2269944853ACEc.2127G= (p.Val709=)
c.405G= (p.Val135=)
c.*197G= (n.*197G=)
c.308G= (n.308G=)
c.689G=
c.*47G= (n.*47G=)
c.1578G= (p.Val526=)
c.465G= (p.Val155=)
c.1560G= (p.Val520=)
c.1275G= (p.Val425=)
c.57G= (p.Val19=)
n.427G=
17g.63486625G>TCA501184226ACEc.2127G>T (p.Val709=)
c.405G>T (p.Val135=)
c.*197G>T (n.*197G>T)
c.308G>T (n.308G>T)
c.689G>T
c.*47G>T (n.*47G>T)
c.1578G>T (p.Val526=)
c.465G>T (p.Val155=)
c.1560G>T (p.Val520=)
c.1275G>T (p.Val425=)
c.57G>T (p.Val19=)
n.427G>T
17g.63486626A>CCA400555961ACEc.2128A>C (p.Asn710His)
c.406A>C (p.Asn136His)
c.*198A>C (n.*198A>C)
c.309A>C (n.309A>C)
c.690A>C
c.*48A>C (n.*48A>C)
c.1579A>C (p.Asn527His)
c.466A>C (p.Asn156His)
c.1561A>C (p.Asn521His)
c.1276A>C (p.Asn426His)
c.58A>C (p.Asn20His)
n.428A>C
17g.63486626A>GCA400555963ACEc.2128A>G (p.Asn710Asp)
c.406A>G (p.Asn136Asp)
c.*198A>G (n.*198A>G)
c.309A>G (n.309A>G)
c.690A>G
c.*48A>G (n.*48A>G)
c.1579A>G (p.Asn527Asp)
c.466A>G (p.Asn156Asp)
c.1561A>G (p.Asn521Asp)
c.1276A>G (p.Asn426Asp)
c.58A>G (p.Asn20Asp)
n.428A>G
 COSMIC COSMIC
17g.63486626A>TCA400555965ACEc.2128A>T (p.Asn710Tyr)
c.406A>T (p.Asn136Tyr)
c.*198A>T (n.*198A>T)
c.309A>T (n.309A>T)
c.690A>T
c.*48A>T (n.*48A>T)
c.1579A>T (p.Asn527Tyr)
c.466A>T (p.Asn156Tyr)
c.1561A>T (p.Asn521Tyr)
c.1276A>T (p.Asn426Tyr)
c.58A>T (p.Asn20Tyr)
n.428A>T
17g.63486627A=CA2269944854ACEc.2129A= (p.Asn710=)
c.407A= (p.Asn136=)
c.*199A= (n.*199A=)
c.310A= (n.310A=)
c.691A=
c.*49A= (n.*49A=)
c.1580A= (p.Asn527=)
c.467A= (p.Asn156=)
c.1562A= (p.Asn521=)
c.1277A= (p.Asn426=)
c.59A= (p.Asn20=)
n.429A=
17g.63486627A>CCA400555968ACEc.2129A>C (p.Asn710Thr)
c.407A>C (p.Asn136Thr)
c.*199A>C (n.*199A>C)
c.310A>C (n.310A>C)
c.691A>C
c.*49A>C (n.*49A>C)
c.1580A>C (p.Asn527Thr)
c.467A>C (p.Asn156Thr)
c.1562A>C (p.Asn521Thr)
c.1277A>C (p.Asn426Thr)
c.59A>C (p.Asn20Thr)
n.429A>C
17g.63486627A>GCA8699944ACEc.2129A>G (p.Asn710Ser)
c.407A>G (p.Asn136Ser)
c.*199A>G (n.*199A>G)
c.310A>G (n.310A>G)
c.691A>G
c.*49A>G (n.*49A>G)
c.1580A>G (p.Asn527Ser)
c.467A>G (p.Asn156Ser)
c.1562A>G (p.Asn521Ser)
c.1277A>G (p.Asn426Ser)
c.59A>G (p.Asn20Ser)
n.429A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63486627A>TCA400555971ACEc.2129A>T (p.Asn710Ile)
c.407A>T (p.Asn136Ile)
c.*199A>T (n.*199A>T)
c.310A>T (n.310A>T)
c.691A>T
c.*49A>T (n.*49A>T)
c.1580A>T (p.Asn527Ile)
c.467A>T (p.Asn156Ile)
c.1562A>T (p.Asn521Ile)
c.1277A>T (p.Asn426Ile)
c.59A>T (p.Asn20Ile)
n.429A>T
 dbSNP gnomAD v3 gnomAD v4
17g.63486628C>ACA400555974ACEc.2130C>A (p.Asn710Lys)
c.408C>A (p.Asn136Lys)
c.*200C>A (n.*200C>A)
c.311C>A (n.311C>A)
c.692C>A
c.*50C>A (n.*50C>A)
c.1581C>A (p.Asn527Lys)
c.468C>A (p.Asn156Lys)
c.1563C>A (p.Asn521Lys)
c.1278C>A (p.Asn426Lys)
c.60C>A (p.Asn20Lys)
n.430C>A
17g.63486628C>GCA400555976ACEc.2130C>G (p.Asn710Lys)
c.408C>G (p.Asn136Lys)
c.*200C>G (n.*200C>G)
c.311C>G (n.311C>G)
c.692C>G
c.*50C>G (n.*50C>G)
c.1581C>G (p.Asn527Lys)
c.468C>G (p.Asn156Lys)
c.1563C>G (p.Asn521Lys)
c.1278C>G (p.Asn426Lys)
c.60C>G (p.Asn20Lys)
n.430C>G
17g.63486628C>TCA501184242ACEc.2130C>T (p.Asn710=)
c.408C>T (p.Asn136=)
c.*200C>T (n.*200C>T)
c.311C>T (n.311C>T)
c.692C>T
c.*50C>T (n.*50C>T)
c.1581C>T (p.Asn527=)
c.468C>T (p.Asn156=)
c.1563C>T (p.Asn521=)
c.1278C>T (p.Asn426=)
c.60C>T (p.Asn20=)
n.430C>T
17g.63486629C>ACA400555979ACEc.2131C>A (p.Gln711Lys)
c.409C>A (p.Gln137Lys)
c.*201C>A (n.*201C>A)
c.312C>A (n.312C>A)
c.693C>A
c.*51C>A (n.*51C>A)
c.1582C>A (p.Gln528Lys)
c.469C>A (p.Gln157Lys)
c.1564C>A (p.Gln522Lys)
c.1279C>A (p.Gln427Lys)
c.61C>A (p.Gln21Lys)
n.431C>A
 COSMIC COSMIC
17g.63486629C>GCA400555982ACEc.2131C>G (p.Gln711Glu)
c.409C>G (p.Gln137Glu)
c.*201C>G (n.*201C>G)
c.312C>G (n.312C>G)
c.693C>G
c.*51C>G (n.*51C>G)
c.1582C>G (p.Gln528Glu)
c.469C>G (p.Gln157Glu)
c.1564C>G (p.Gln522Glu)
c.1279C>G (p.Gln427Glu)
c.61C>G (p.Gln21Glu)
n.431C>G
17g.63486629C>TCA400555984ACEc.2131C>T (p.Gln711Ter)
c.409C>T (p.Gln137Ter)
c.*201C>T (n.*201C>T)
c.312C>T (n.312C>T)
c.693C>T
c.*51C>T (n.*51C>T)
c.1582C>T (p.Gln528Ter)
c.469C>T (p.Gln157Ter)
c.1564C>T (p.Gln522Ter)
c.1279C>T (p.Gln427Ter)
c.61C>T (p.Gln21Ter)
n.431C>T
17g.63486630A>CCA400555993ACEc.2132A>C (p.Gln711Pro)
c.410A>C (p.Gln137Pro)
c.*202A>C (n.*202A>C)
c.313A>C (n.313A>C)
c.694A>C
c.*52A>C (n.*52A>C)
c.1583A>C (p.Gln528Pro)
c.470A>C (p.Gln157Pro)
c.1565A>C (p.Gln522Pro)
c.1280A>C (p.Gln427Pro)
c.62A>C (p.Gln21Pro)
n.432A>C
17g.63486630A>GCA400555990ACEc.2132A>G (p.Gln711Arg)
c.410A>G (p.Gln137Arg)
c.*202A>G (n.*202A>G)
c.313A>G (n.313A>G)
c.694A>G
c.*52A>G (n.*52A>G)
c.1583A>G (p.Gln528Arg)
c.470A>G (p.Gln157Arg)
c.1565A>G (p.Gln522Arg)
c.1280A>G (p.Gln427Arg)
c.62A>G (p.Gln21Arg)
n.432A>G
 COSMIC COSMIC COSMIC
17g.63486630A>TCA400555987ACEc.2132A>T (p.Gln711Leu)
c.410A>T (p.Gln137Leu)
c.*202A>T (n.*202A>T)
c.313A>T (n.313A>T)
c.694A>T
c.*52A>T (n.*52A>T)
c.1583A>T (p.Gln528Leu)
c.470A>T (p.Gln157Leu)
c.1565A>T (p.Gln522Leu)
c.1280A>T (p.Gln427Leu)
c.62A>T (p.Gln21Leu)
n.432A>T
17g.63486631G>ACA501184249ACEc.2133G>A (p.Gln711=)
c.411G>A (p.Gln137=)
c.*203G>A (n.*203G>A)
c.314G>A (n.314G>A)
c.695G>A
c.*53G>A (n.*53G>A)
c.1584G>A (p.Gln528=)
c.471G>A (p.Gln157=)
c.1566G>A (p.Gln522=)
c.1281G>A (p.Gln427=)
c.63G>A (p.Gln21=)
n.433G>A
17g.63486631G>CCA400555997ACEc.2133G>C (p.Gln711His)
c.411G>C (p.Gln137His)
c.*203G>C (n.*203G>C)
c.314G>C (n.314G>C)
c.695G>C
c.*53G>C (n.*53G>C)
c.1584G>C (p.Gln528His)
c.471G>C (p.Gln157His)
c.1566G>C (p.Gln522His)
c.1281G>C (p.Gln427His)
c.63G>C (p.Gln21His)
n.433G>C
 gnomAD v4
17g.63486631G=CA2269944855ACEc.2133G= (p.Gln711=)
c.411G= (p.Gln137=)
c.*203G= (n.*203G=)
c.314G= (n.314G=)
c.695G=
c.*53G= (n.*53G=)
c.1584G= (p.Gln528=)
c.471G= (p.Gln157=)
c.1566G= (p.Gln522=)
c.1281G= (p.Gln427=)
c.63G= (p.Gln21=)
n.433G=
17g.63486631G>TCA400555999ACEc.2133G>T (p.Gln711His)
c.411G>T (p.Gln137His)
c.*203G>T (n.*203G>T)
c.314G>T (n.314G>T)
c.695G>T
c.*53G>T (n.*53G>T)
c.1584G>T (p.Gln528His)
c.471G>T (p.Gln157His)
c.1566G>T (p.Gln522His)
c.1281G>T (p.Gln427His)
c.63G>T (p.Gln21His)
n.433G>T
 dbSNP
17g.63486632T>ACA400556003ACEc.2134T>A (p.Leu712Met)
c.412T>A (p.Leu138Met)
c.*204T>A (n.*204T>A)
c.315T>A (n.315T>A)
c.696T>A
c.*54T>A (n.*54T>A)
c.1585T>A (p.Leu529Met)
c.472T>A (p.Leu158Met)
c.1567T>A (p.Leu523Met)
c.1282T>A (p.Leu428Met)
c.64T>A (p.Leu22Met)
n.434T>A
17g.63486632T>CCA501184254ACEc.2134T>C (p.Leu712=)
c.412T>C (p.Leu138=)
c.*204T>C (n.*204T>C)
c.315T>C (n.315T>C)
c.696T>C
c.*54T>C (n.*54T>C)
c.1585T>C (p.Leu529=)
c.472T>C (p.Leu158=)
c.1567T>C (p.Leu523=)
c.1282T>C (p.Leu428=)
c.64T>C (p.Leu22=)
n.434T>C
17g.63486632T>GCA400556005ACEc.2134T>G (p.Leu712Val)
c.412T>G (p.Leu138Val)
c.*204T>G (n.*204T>G)
c.315T>G (n.315T>G)
c.696T>G
c.*54T>G (n.*54T>G)
c.1585T>G (p.Leu529Val)
c.472T>G (p.Leu158Val)
c.1567T>G (p.Leu523Val)
c.1282T>G (p.Leu428Val)
c.64T>G (p.Leu22Val)
n.434T>G
17g.63486633T>ACA400556008ACEc.2135T>A (p.Leu712Ter)
c.413T>A (p.Leu138Ter)
c.*205T>A (n.*205T>A)
c.316T>A (n.316T>A)
c.697T>A
c.*55T>A (n.*55T>A)
c.1586T>A (p.Leu529Ter)
c.473T>A (p.Leu158Ter)
c.1568T>A (p.Leu523Ter)
c.1283T>A (p.Leu428Ter)
c.65T>A (p.Leu22Ter)
n.435T>A
17g.63486633T>CCA400556009ACEc.2135T>C (p.Leu712Ser)
c.413T>C (p.Leu138Ser)
c.*205T>C (n.*205T>C)
c.316T>C (n.316T>C)
c.697T>C
c.*55T>C (n.*55T>C)
c.1586T>C (p.Leu529Ser)
c.473T>C (p.Leu158Ser)
c.1568T>C (p.Leu523Ser)
c.1283T>C (p.Leu428Ser)
c.65T>C (p.Leu22Ser)
n.435T>C
 dbSNP
17g.63486633T>GCA400556011ACEc.2135T>G (p.Leu712Trp)
c.413T>G (p.Leu138Trp)
c.*205T>G (n.*205T>G)
c.316T>G (n.316T>G)
c.697T>G
c.*55T>G (n.*55T>G)
c.1586T>G (p.Leu529Trp)
c.473T>G (p.Leu158Trp)
c.1568T>G (p.Leu523Trp)
c.1283T>G (p.Leu428Trp)
c.65T>G (p.Leu22Trp)
n.435T>G
17g.63486633T=CA2269944856ACEc.2135T= (p.Leu712=)
c.413T= (p.Leu138=)
c.*205T= (n.*205T=)
c.316T= (n.316T=)
c.697T=
c.*55T= (n.*55T=)
c.1586T= (p.Leu529=)
c.473T= (p.Leu158=)
c.1568T= (p.Leu523=)
c.1283T= (p.Leu428=)
c.65T= (p.Leu22=)
n.435T=
17g.63486634G>ACA501184255ACEc.2136G>A (p.Leu712=)
c.414G>A (p.Leu138=)
c.*206G>A (n.*206G>A)
c.317G>A (n.317G>A)
c.698G>A
c.*56G>A (n.*56G>A)
c.1587G>A (p.Leu529=)
c.474G>A (p.Leu158=)
c.1569G>A (p.Leu523=)
c.1284G>A (p.Leu428=)
c.66G>A (p.Leu22=)
n.436G>A
17g.63486634G>CCA400556014ACEc.2136G>C (p.Leu712Phe)
c.414G>C (p.Leu138Phe)
c.*206G>C (n.*206G>C)
c.317G>C (n.317G>C)
c.698G>C
c.*56G>C (n.*56G>C)
c.1587G>C (p.Leu529Phe)
c.474G>C (p.Leu158Phe)
c.1569G>C (p.Leu523Phe)
c.1284G>C (p.Leu428Phe)
c.66G>C (p.Leu22Phe)
n.436G>C
17g.63486634G>TCA400556015ACEc.2136G>T (p.Leu712Phe)
c.414G>T (p.Leu138Phe)
c.*206G>T (n.*206G>T)
c.317G>T (n.317G>T)
c.698G>T
c.*56G>T (n.*56G>T)
c.1587G>T (p.Leu529Phe)
c.474G>T (p.Leu158Phe)
c.1569G>T (p.Leu523Phe)
c.1284G>T (p.Leu428Phe)
c.66G>T (p.Leu22Phe)
n.436G>T
17g.63486635C>ACA400556019ACEc.2137C>A (p.Gln713Lys)
c.415C>A (p.Gln139Lys)
c.*207C>A (n.*207C>A)
c.318C>A (n.318C>A)
c.699C>A
c.*57C>A (n.*57C>A)
c.1588C>A (p.Gln530Lys)
c.475C>A (p.Gln159Lys)
c.1570C>A (p.Gln524Lys)
c.1285C>A (p.Gln429Lys)
c.67C>A (p.Gln23Lys)
n.437C>A
17g.63486635C>GCA400556020ACEc.2137C>G (p.Gln713Glu)
c.415C>G (p.Gln139Glu)
c.*207C>G (n.*207C>G)
c.318C>G (n.318C>G)
c.699C>G
c.*57C>G (n.*57C>G)
c.1588C>G (p.Gln530Glu)
c.475C>G (p.Gln159Glu)
c.1570C>G (p.Gln524Glu)
c.1285C>G (p.Gln429Glu)
c.67C>G (p.Gln23Glu)
n.437C>G
17g.63486635C>TCA400556022ACEc.2137C>T (p.Gln713Ter)
c.415C>T (p.Gln139Ter)
c.*207C>T (n.*207C>T)
c.318C>T (n.318C>T)
c.699C>T
c.*57C>T (n.*57C>T)
c.1588C>T (p.Gln530Ter)
c.475C>T (p.Gln159Ter)
c.1570C>T (p.Gln524Ter)
c.1285C>T (p.Gln429Ter)
c.67C>T (p.Gln23Ter)
n.437C>T
17g.63486636A>CCA400556031ACEc.2138A>C (p.Gln713Pro)
c.416A>C (p.Gln139Pro)
c.*208A>C (n.*208A>C)
c.319A>C (n.319A>C)
c.700A>C
c.*58A>C (n.*58A>C)
c.1589A>C (p.Gln530Pro)
c.476A>C (p.Gln159Pro)
c.1571A>C (p.Gln524Pro)
c.1286A>C (p.Gln429Pro)
c.68A>C (p.Gln23Pro)
n.438A>C
17g.63486636A>GCA400556028ACEc.2138A>G (p.Gln713Arg)
c.416A>G (p.Gln139Arg)
c.*208A>G (n.*208A>G)
c.319A>G (n.319A>G)
c.700A>G
c.*58A>G (n.*58A>G)
c.1589A>G (p.Gln530Arg)
c.476A>G (p.Gln159Arg)
c.1571A>G (p.Gln524Arg)
c.1286A>G (p.Gln429Arg)
c.68A>G (p.Gln23Arg)
n.438A>G
17g.63486636A>TCA400556025ACEc.2138A>T (p.Gln713Leu)
c.416A>T (p.Gln139Leu)
c.*208A>T (n.*208A>T)
c.319A>T (n.319A>T)
c.700A>T
c.*58A>T (n.*58A>T)
c.1589A>T (p.Gln530Leu)
c.476A>T (p.Gln159Leu)
c.1571A>T (p.Gln524Leu)
c.1286A>T (p.Gln429Leu)
c.68A>T (p.Gln23Leu)
n.438A>T
17g.63486637G>ACA292881492ACEc.2139G>A (p.Gln713=)
c.417G>A (p.Gln139=)
c.*209G>A (n.*209G>A)
c.320G>A (n.320G>A)
c.701G>A
c.*59G>A (n.*59G>A)
c.1590G>A (p.Gln530=)
c.477G>A (p.Gln159=)
c.1572G>A (p.Gln524=)
c.1287G>A (p.Gln429=)
c.69G>A (p.Gln23=)
n.439G>A
 dbSNP gnomAD v4
17g.63486637G>CCA400556034ACEc.2139G>C (p.Gln713His)
c.417G>C (p.Gln139His)
c.*209G>C (n.*209G>C)
c.320G>C (n.320G>C)
c.701G>C
c.*59G>C (n.*59G>C)
c.1590G>C (p.Gln530His)
c.477G>C (p.Gln159His)
c.1572G>C (p.Gln524His)
c.1287G>C (p.Gln429His)
c.69G>C (p.Gln23His)
n.439G>C
17g.63486637G=CA2269944858ACEc.2139G= (p.Gln713=)
c.417G= (p.Gln139=)
c.*209G= (n.*209G=)
c.320G= (n.320G=)
c.701G=
c.*59G= (n.*59G=)
c.1590G= (p.Gln530=)
c.477G= (p.Gln159=)
c.1572G= (p.Gln524=)
c.1287G= (p.Gln429=)
c.69G= (p.Gln23=)
n.439G=
17g.63486637G>TCA400556036ACEc.2139G>T (p.Gln713His)
c.417G>T (p.Gln139His)
c.*209G>T (n.*209G>T)
c.320G>T (n.320G>T)
c.701G>T
c.*59G>T (n.*59G>T)
c.1590G>T (p.Gln530His)
c.477G>T (p.Gln159His)
c.1572G>T (p.Gln524His)
c.1287G>T (p.Gln429His)
c.69G>T (p.Gln23His)
n.439G>T
17g.63486637_63486638delinsGACA2269944857ACEc.2139_2140delinsGA (p.Gln713=)
c.417_418delinsGA (p.Gln139=)
c.*209_*210delinsGA (n.*209_*210delinsGA)
c.320_321delinsGA (n.320_321delinsGA)
c.701_702delinsGA
c.*59_*60delinsGA (n.*59_*60delinsGA)
c.1590_1591delinsGA (p.Gln530=)
c.477_478delinsGA (p.Gln159=)
c.1572_1573delinsGA (p.Gln524=)
c.1287_1288delinsGA (p.Gln429=)
c.69_70delinsGA (p.Gln23=)
n.439_440delinsGA
17g.63486638A>CCA400556039ACEc.2140A>C (p.Asn714His)
c.418A>C (p.Asn140His)
c.*210A>C (n.*210A>C)
c.321A>C (n.321A>C)
c.702A>C
c.*60A>C (n.*60A>C)
c.1591A>C (p.Asn531His)
c.478A>C (p.Asn160His)
c.1573A>C (p.Asn525His)
c.1288A>C (p.Asn430His)
c.70A>C (p.Asn24His)
n.440A>C
17g.63486638A>GCA400556041ACEc.2140A>G (p.Asn714Asp)
c.418A>G (p.Asn140Asp)
c.*210A>G (n.*210A>G)
c.321A>G (n.321A>G)
c.702A>G
c.*60A>G (n.*60A>G)
c.1591A>G (p.Asn531Asp)
c.478A>G (p.Asn160Asp)
c.1573A>G (p.Asn525Asp)
c.1288A>G (p.Asn430Asp)
c.70A>G (p.Asn24Asp)
n.440A>G
17g.63486638A>TCA400556044ACEc.2140A>T (p.Asn714Tyr)
c.418A>T (p.Asn140Tyr)
c.*210A>T (n.*210A>T)
c.321A>T (n.321A>T)
c.702A>T
c.*60A>T (n.*60A>T)
c.1591A>T (p.Asn531Tyr)
c.478A>T (p.Asn160Tyr)
c.1573A>T (p.Asn525Tyr)
c.1288A>T (p.Asn430Tyr)
c.70A>T (p.Asn24Tyr)
n.440A>T
17g.63486639dupCA919876028ACEc.2141dup (p.Asn714LysfsTer?)
c.419dup (p.Asn140LysfsTer?)
c.*211dup (n.*211dup)
c.322dup (n.322dup)
c.703dup
c.*61dup (n.*61dup)
c.1592dup (p.Asn531LysfsTer?)
c.479dup (p.Asn160LysfsTer?)
c.1574dup (p.Asn525LysfsTer?)
c.1289dup (p.Asn430LysfsTer?)
c.71dup (p.Asn24LysfsTer?)
n.441dup
 dbSNP
17g.63486639delCA2269944859ACEc.2141del (p.Asn714ThrfsTer8)
c.419del (p.Asn140ThrfsTer8)
c.*211del (n.*211del)
c.322del (n.322del)
c.703del
c.*61del (n.*61del)
c.1592del (p.Asn531ThrfsTer8)
c.479del (p.Asn160ThrfsTer8)
c.1574del (p.Asn525ThrfsTer8)
c.1289del (p.Asn430ThrfsTer8)
c.71del (p.Asn24ThrfsTer8)
n.441del
 dbSNP
17g.63486639A>CCA400556047ACEc.2141A>C (p.Asn714Thr)
c.419A>C (p.Asn140Thr)
c.*211A>C (n.*211A>C)
c.322A>C (n.322A>C)
c.703A>C
c.*61A>C (n.*61A>C)
c.1592A>C (p.Asn531Thr)
c.479A>C (p.Asn160Thr)
c.1574A>C (p.Asn525Thr)
c.1289A>C (p.Asn430Thr)
c.71A>C (p.Asn24Thr)
n.441A>C
17g.63486639A>GCA400556049ACEc.2141A>G (p.Asn714Ser)
c.419A>G (p.Asn140Ser)
c.*211A>G (n.*211A>G)
c.322A>G (n.322A>G)
c.703A>G
c.*61A>G (n.*61A>G)
c.1592A>G (p.Asn531Ser)
c.479A>G (p.Asn160Ser)
c.1574A>G (p.Asn525Ser)
c.1289A>G (p.Asn430Ser)
c.71A>G (p.Asn24Ser)
n.441A>G
17g.63486639A>TCA400556051ACEc.2141A>T (p.Asn714Ile)
c.419A>T (p.Asn140Ile)
c.*211A>T (n.*211A>T)
c.322A>T (n.322A>T)
c.703A>T
c.*61A>T (n.*61A>T)
c.1592A>T (p.Asn531Ile)
c.479A>T (p.Asn160Ile)
c.1574A>T (p.Asn525Ile)
c.1289A>T (p.Asn430Ile)
c.71A>T (p.Asn24Ile)
n.441A>T
 gnomAD v4
17g.63486640C>ACA8699945ACEc.2142C>A (p.Asn714Lys)
c.420C>A (p.Asn140Lys)
c.*212C>A (n.*212C>A)
c.323C>A (n.323C>A)
c.704C>A
c.*62C>A (n.*62C>A)
c.1593C>A (p.Asn531Lys)
c.480C>A (p.Asn160Lys)
c.1575C>A (p.Asn525Lys)
c.1290C>A (p.Asn430Lys)
c.72C>A (p.Asn24Lys)
n.442C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63486640C=CA2269944860ACEc.2142C= (p.Asn714=)
c.420C= (p.Asn140=)
c.*212C= (n.*212C=)
c.323C= (n.323C=)
c.704C=
c.*62C= (n.*62C=)
c.1593C= (p.Asn531=)
c.480C= (p.Asn160=)
c.1575C= (p.Asn525=)
c.1290C= (p.Asn430=)
c.72C= (p.Asn24=)
n.442C=
17g.63486640C>GCA400556056ACEc.2142C>G (p.Asn714Lys)
c.420C>G (p.Asn140Lys)
c.*212C>G (n.*212C>G)
c.323C>G (n.323C>G)
c.704C>G
c.*62C>G (n.*62C>G)
c.1593C>G (p.Asn531Lys)
c.480C>G (p.Asn160Lys)
c.1575C>G (p.Asn525Lys)
c.1290C>G (p.Asn430Lys)
c.72C>G (p.Asn24Lys)
n.442C>G
17g.63486640C>TCA501184285ACEc.2142C>T (p.Asn714=)
c.420C>T (p.Asn140=)
c.*212C>T (n.*212C>T)
c.323C>T (n.323C>T)
c.704C>T
c.*62C>T (n.*62C>T)
c.1593C>T (p.Asn531=)
c.480C>T (p.Asn160=)
c.1575C>T (p.Asn525=)
c.1290C>T (p.Asn430=)
c.72C>T (p.Asn24=)
n.442C>T
 gnomAD v4
17g.63486643_63486645delCA2639263164ACEc.2145_2147del (p.Thr716del)
c.423_425del (p.Thr142del)
c.*215_*217del (n.*215_*217del)
c.326_328del (n.326_328del)
c.707_709del
c.*65_*67del (n.*65_*67del)
c.1596_1598del (p.Thr533del)
c.483_485del (p.Thr162del)
c.1578_1580del (p.Thr527del)
c.1293_1295del (p.Thr432del)
c.75_77del (p.Thr26del)
n.445_447del
 gnomAD v4
17g.63486641A>CCA400556059ACEc.2143A>C (p.Thr715Pro)
c.421A>C (p.Thr141Pro)
c.*213A>C (n.*213A>C)
c.324A>C (n.324A>C)
c.705A>C
c.*63A>C (n.*63A>C)
c.1594A>C (p.Thr532Pro)
c.481A>C (p.Thr161Pro)
c.1576A>C (p.Thr526Pro)
c.1291A>C (p.Thr431Pro)
c.73A>C (p.Thr25Pro)
n.443A>C
 gnomAD v4
17g.63486641A>GCA400556061ACEc.2143A>G (p.Thr715Ala)
c.421A>G (p.Thr141Ala)
c.*213A>G (n.*213A>G)
c.324A>G (n.324A>G)
c.705A>G
c.*63A>G (n.*63A>G)
c.1594A>G (p.Thr532Ala)
c.481A>G (p.Thr161Ala)
c.1576A>G (p.Thr526Ala)
c.1291A>G (p.Thr431Ala)
c.73A>G (p.Thr25Ala)
n.443A>G
17g.63486641A>TCA400556064ACEc.2143A>T (p.Thr715Ser)
c.421A>T (p.Thr141Ser)
c.*213A>T (n.*213A>T)
c.324A>T (n.324A>T)
c.705A>T
c.*63A>T (n.*63A>T)
c.1594A>T (p.Thr532Ser)
c.481A>T (p.Thr161Ser)
c.1576A>T (p.Thr526Ser)
c.1291A>T (p.Thr431Ser)
c.73A>T (p.Thr25Ser)
n.443A>T
17g.63486642C>ACA400556071ACEc.2144C>A (p.Thr715Asn)
c.422C>A (p.Thr141Asn)
c.*214C>A (n.*214C>A)
c.325C>A (n.325C>A)
c.706C>A
c.*64C>A (n.*64C>A)
c.1595C>A (p.Thr532Asn)
c.482C>A (p.Thr161Asn)
c.1577C>A (p.Thr526Asn)
c.1292C>A (p.Thr431Asn)
c.74C>A (p.Thr25Asn)
n.444C>A
17g.63486642C>GCA400556068ACEc.2144C>G (p.Thr715Ser)
c.422C>G (p.Thr141Ser)
c.*214C>G (n.*214C>G)
c.325C>G (n.325C>G)
c.706C>G
c.*64C>G (n.*64C>G)
c.1595C>G (p.Thr532Ser)
c.482C>G (p.Thr161Ser)
c.1577C>G (p.Thr526Ser)
c.1292C>G (p.Thr431Ser)
c.74C>G (p.Thr25Ser)
n.444C>G
17g.63486642C>TCA400556066ACEc.2144C>T (p.Thr715Ile)
c.422C>T (p.Thr141Ile)
c.*214C>T (n.*214C>T)
c.325C>T (n.325C>T)
c.706C>T
c.*64C>T (n.*64C>T)
c.1595C>T (p.Thr532Ile)
c.482C>T (p.Thr161Ile)
c.1577C>T (p.Thr526Ile)
c.1292C>T (p.Thr431Ile)
c.74C>T (p.Thr25Ile)
n.444C>T
17g.63486643C>ACA501184301ACEc.2145C>A (p.Thr715=)
c.423C>A (p.Thr141=)
c.*215C>A (n.*215C>A)
c.326C>A (n.326C>A)
c.707C>A
c.*65C>A (n.*65C>A)
c.1596C>A (p.Thr532=)
c.483C>A (p.Thr161=)
c.1578C>A (p.Thr526=)
c.1293C>A (p.Thr431=)
c.75C>A (p.Thr25=)
n.445C>A
17g.63486643C>GCA501184307ACEc.2145C>G (p.Thr715=)
c.423C>G (p.Thr141=)
c.*215C>G (n.*215C>G)
c.326C>G (n.326C>G)
c.707C>G
c.*65C>G (n.*65C>G)
c.1596C>G (p.Thr532=)
c.483C>G (p.Thr161=)
c.1578C>G (p.Thr526=)
c.1293C>G (p.Thr431=)
c.75C>G (p.Thr25=)
n.445C>G
17g.63486643C>TCA501184308ACEc.2145C>T (p.Thr715=)
c.423C>T (p.Thr141=)
c.*215C>T (n.*215C>T)
c.326C>T (n.326C>T)
c.707C>T
c.*65C>T (n.*65C>T)
c.1596C>T (p.Thr532=)
c.483C>T (p.Thr161=)
c.1578C>T (p.Thr526=)
c.1293C>T (p.Thr431=)
c.75C>T (p.Thr25=)
n.445C>T
 COSMIC COSMIC COSMIC
17g.63486644A=CA2269944861ACEc.2146A= (p.Thr716=)
c.424A= (p.Thr142=)
c.*216A= (n.*216A=)
c.327A= (n.327A=)
c.708A=
c.*66A= (n.*66A=)
c.1597A= (p.Thr533=)
c.484A= (p.Thr162=)
c.1579A= (p.Thr527=)
c.1294A= (p.Thr432=)
c.76A= (p.Thr26=)
n.446A=
17g.63486644A>CCA400556076ACEc.2146A>C (p.Thr716Pro)
c.424A>C (p.Thr142Pro)
c.*216A>C (n.*216A>C)
c.327A>C (n.327A>C)
c.708A>C
c.*66A>C (n.*66A>C)
c.1597A>C (p.Thr533Pro)
c.484A>C (p.Thr162Pro)
c.1579A>C (p.Thr527Pro)
c.1294A>C (p.Thr432Pro)
c.76A>C (p.Thr26Pro)
n.446A>C
17g.63486644A>GCA8699946ACEc.2146A>G (p.Thr716Ala)
c.424A>G (p.Thr142Ala)
c.*216A>G (n.*216A>G)
c.327A>G (n.327A>G)
c.708A>G
c.*66A>G (n.*66A>G)
c.1597A>G (p.Thr533Ala)
c.484A>G (p.Thr162Ala)
c.1579A>G (p.Thr527Ala)
c.1294A>G (p.Thr432Ala)
c.76A>G (p.Thr26Ala)
n.446A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486644A>TCA400556078ACEc.2146A>T (p.Thr716Ser)
c.424A>T (p.Thr142Ser)
c.*216A>T (n.*216A>T)
c.327A>T (n.327A>T)
c.708A>T
c.*66A>T (n.*66A>T)
c.1597A>T (p.Thr533Ser)
c.484A>T (p.Thr162Ser)
c.1579A>T (p.Thr527Ser)
c.1294A>T (p.Thr432Ser)
c.76A>T (p.Thr26Ser)
n.446A>T
17g.63486645C>ACA400556082ACEc.2147C>A (p.Thr716Asn)
c.425C>A (p.Thr142Asn)
c.*217C>A (n.*217C>A)
c.328C>A (n.328C>A)
c.709C>A
c.*67C>A (n.*67C>A)
c.1598C>A (p.Thr533Asn)
c.485C>A (p.Thr162Asn)
c.1580C>A (p.Thr527Asn)
c.1295C>A (p.Thr432Asn)
c.77C>A (p.Thr26Asn)
n.447C>A
17g.63486645C>GCA400556084ACEc.2147C>G (p.Thr716Ser)
c.425C>G (p.Thr142Ser)
c.*217C>G (n.*217C>G)
c.328C>G (n.328C>G)
c.709C>G
c.*67C>G (n.*67C>G)
c.1598C>G (p.Thr533Ser)
c.485C>G (p.Thr162Ser)
c.1580C>G (p.Thr527Ser)
c.1295C>G (p.Thr432Ser)
c.77C>G (p.Thr26Ser)
n.447C>G
17g.63486645C>TCA400556086ACEc.2147C>T (p.Thr716Ile)
c.425C>T (p.Thr142Ile)
c.*217C>T (n.*217C>T)
c.328C>T (n.328C>T)
c.709C>T
c.*67C>T (n.*67C>T)
c.1598C>T (p.Thr533Ile)
c.485C>T (p.Thr162Ile)
c.1580C>T (p.Thr527Ile)
c.1295C>T (p.Thr432Ile)
c.77C>T (p.Thr26Ile)
n.447C>T
 gnomAD v4
17g.63486645_63486647delinsCTACA2269944862ACEc.2147_2149delinsCTA (p.Thr716=)
c.425_427delinsCTA (p.Thr142=)
c.*217_*219delinsCTA (n.*217_*219delinsCTA)
c.328_330delinsCTA (n.328_330delinsCTA)
c.709_711delinsCTA
c.*67_*69delinsCTA (n.*67_*69delinsCTA)
c.1598_1600delinsCTA (p.Thr533=)
c.485_487delinsCTA (p.Thr162=)
c.1580_1582delinsCTA (p.Thr527=)
c.1295_1297delinsCTA (p.Thr432=)
c.77_79delinsCTA (p.Thr26=)
n.447_449delinsCTA
17g.63486646T>ACA501184325ACEc.2148T>A (p.Thr716=)
c.426T>A (p.Thr142=)
c.*218T>A (n.*218T>A)
c.329T>A (n.329T>A)
c.710T>A
c.*68T>A (n.*68T>A)
c.1599T>A (p.Thr533=)
c.486T>A (p.Thr162=)
c.1581T>A (p.Thr527=)
c.1296T>A (p.Thr432=)
c.78T>A (p.Thr26=)
n.448T>A
17g.63486646T>CCA501184327ACEc.2148T>C (p.Thr716=)
c.426T>C (p.Thr142=)
c.*218T>C (n.*218T>C)
c.329T>C (n.329T>C)
c.710T>C
c.*68T>C (n.*68T>C)
c.1599T>C (p.Thr533=)
c.486T>C (p.Thr162=)
c.1581T>C (p.Thr527=)
c.1296T>C (p.Thr432=)
c.78T>C (p.Thr26=)
n.448T>C
 gnomAD v4
17g.63486646T>GCA501184329ACEc.2148T>G (p.Thr716=)
c.426T>G (p.Thr142=)
c.*218T>G (n.*218T>G)
c.329T>G (n.329T>G)
c.710T>G
c.*68T>G (n.*68T>G)
c.1599T>G (p.Thr533=)
c.486T>G (p.Thr162=)
c.1581T>G (p.Thr527=)
c.1296T>G (p.Thr432=)
c.78T>G (p.Thr26=)
n.448T>G
17g.63486647_63486648delCA627148268ACEc.2149_2150del (p.Ile717GlnfsTer?)
c.427_428del (p.Ile143GlnfsTer?)
c.*219_*220del (n.*219_*220del)
c.330_331del (n.330_331del)
c.711_712del
c.*69_*70del (n.*69_*70del)
c.1600_1601del (p.Ile534GlnfsTer?)
c.487_488del (p.Ile163GlnfsTer?)
c.1582_1583del (p.Ile528GlnfsTer?)
c.1297_1298del (p.Ile433GlnfsTer?)
c.79_80del (p.Ile27GlnfsTer?)
n.449_450del
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.63486647A=CA2269944863ACEc.2149A= (p.Ile717=)
c.427A= (p.Ile143=)
c.*219A= (n.*219A=)
c.330A= (n.330A=)
c.711A=
c.*69A= (n.*69A=)
c.1600A= (p.Ile534=)
c.487A= (p.Ile163=)
c.1582A= (p.Ile528=)
c.1297A= (p.Ile433=)
c.79A= (p.Ile27=)
n.449A=
17g.63486647A>CCA400556089ACEc.2149A>C (p.Ile717Leu)
c.427A>C (p.Ile143Leu)
c.*219A>C (n.*219A>C)
c.330A>C (n.330A>C)
c.711A>C
c.*69A>C (n.*69A>C)
c.1600A>C (p.Ile534Leu)
c.487A>C (p.Ile163Leu)
c.1582A>C (p.Ile528Leu)
c.1297A>C (p.Ile433Leu)
c.79A>C (p.Ile27Leu)
n.449A>C
17g.63486647A>GCA400556091ACEc.2149A>G (p.Ile717Val)
c.427A>G (p.Ile143Val)
c.*219A>G (n.*219A>G)
c.330A>G (n.330A>G)
c.711A>G
c.*69A>G (n.*69A>G)
c.1600A>G (p.Ile534Val)
c.487A>G (p.Ile163Val)
c.1582A>G (p.Ile528Val)
c.1297A>G (p.Ile433Val)
c.79A>G (p.Ile27Val)
n.449A>G
 dbSNP gnomAD v4
17g.63486647A>TCA400556094ACEc.2149A>T (p.Ile717Phe)
c.427A>T (p.Ile143Phe)
c.*219A>T (n.*219A>T)
c.330A>T (n.330A>T)
c.711A>T
c.*69A>T (n.*69A>T)
c.1600A>T (p.Ile534Phe)
c.487A>T (p.Ile163Phe)
c.1582A>T (p.Ile528Phe)
c.1297A>T (p.Ile433Phe)
c.79A>T (p.Ile27Phe)
n.449A>T
17g.63486651_63486659delCA2639263165ACEc.2153_2161del (p.Lys718_Ile720del)
c.431_439del (p.Lys144_Ile146del)
c.*223_*231del (n.*223_*231del)
c.334_342del (n.334_342del)
c.715_723del
c.*73_*81del (n.*73_*81del)
c.1604_1612del (p.Lys535_Ile537del)
c.491_499del (p.Lys164_Ile166del)
c.1586_1594del (p.Lys529_Ile531del)
c.1301_1309del (p.Lys434_Ile436del)
c.83_91del (p.Lys28_Ile30del)
n.453_461del
 gnomAD v4
17g.63486648T>ACA400556098ACEc.2150T>A (p.Ile717Asn)
c.428T>A (p.Ile143Asn)
c.*220T>A (n.*220T>A)
c.331T>A (n.331T>A)
c.712T>A
c.*70T>A (n.*70T>A)
c.1601T>A (p.Ile534Asn)
c.488T>A (p.Ile163Asn)
c.1583T>A (p.Ile528Asn)
c.1298T>A (p.Ile433Asn)
c.80T>A (p.Ile27Asn)
n.450T>A
17g.63486648T>CCA400556100ACEc.2150T>C (p.Ile717Thr)
c.428T>C (p.Ile143Thr)
c.*220T>C (n.*220T>C)
c.331T>C (n.331T>C)
c.712T>C
c.*70T>C (n.*70T>C)
c.1601T>C (p.Ile534Thr)
c.488T>C (p.Ile163Thr)
c.1583T>C (p.Ile528Thr)
c.1298T>C (p.Ile433Thr)
c.80T>C (p.Ile27Thr)
n.450T>C
 gnomAD v4
17g.63486648T>GCA400556102ACEc.2150T>G (p.Ile717Ser)
c.428T>G (p.Ile143Ser)
c.*220T>G (n.*220T>G)
c.331T>G (n.331T>G)
c.712T>G
c.*70T>G (n.*70T>G)
c.1601T>G (p.Ile534Ser)
c.488T>G (p.Ile163Ser)
c.1583T>G (p.Ile528Ser)
c.1298T>G (p.Ile433Ser)
c.80T>G (p.Ile27Ser)
n.450T>G
17g.63486649C>ACA501184337ACEc.2151C>A (p.Ile717=)
c.429C>A (p.Ile143=)
c.*221C>A (n.*221C>A)
c.332C>A (n.332C>A)
c.713C>A
c.*71C>A (n.*71C>A)
c.1602C>A (p.Ile534=)
c.489C>A (p.Ile163=)
c.1584C>A (p.Ile528=)
c.1299C>A (p.Ile433=)
c.81C>A (p.Ile27=)
n.451C>A
17g.63486649C=CA2269944864ACEc.2151C= (p.Ile717=)
c.429C= (p.Ile143=)
c.*221C= (n.*221C=)
c.332C= (n.332C=)
c.713C=
c.*71C= (n.*71C=)
c.1602C= (p.Ile534=)
c.489C= (p.Ile163=)
c.1584C= (p.Ile528=)
c.1299C= (p.Ile433=)
c.81C= (p.Ile27=)
n.451C=
17g.63486649C>GCA8699947ACEc.2151C>G (p.Ile717Met)
c.429C>G (p.Ile143Met)
c.*221C>G (n.*221C>G)
c.332C>G (n.332C>G)
c.713C>G
c.*71C>G (n.*71C>G)
c.1602C>G (p.Ile534Met)
c.489C>G (p.Ile163Met)
c.1584C>G (p.Ile528Met)
c.1299C>G (p.Ile433Met)
c.81C>G (p.Ile27Met)
n.451C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63486649C>TCA501184340ACEc.2151C>T (p.Ile717=)
c.429C>T (p.Ile143=)
c.*221C>T (n.*221C>T)
c.332C>T (n.332C>T)
c.713C>T
c.*71C>T (n.*71C>T)
c.1602C>T (p.Ile534=)
c.489C>T (p.Ile163=)
c.1584C>T (p.Ile528=)
c.1299C>T (p.Ile433=)
c.81C>T (p.Ile27=)
n.451C>T
 gnomAD v4
17g.63486650A>CCA400556107ACEc.2152A>C (p.Lys718Gln)
c.430A>C (p.Lys144Gln)
c.*222A>C (n.*222A>C)
c.333A>C (n.333A>C)
c.714A>C
c.*72A>C (n.*72A>C)
c.1603A>C (p.Lys535Gln)
c.490A>C (p.Lys164Gln)
c.1585A>C (p.Lys529Gln)
c.1300A>C (p.Lys434Gln)
c.82A>C (p.Lys28Gln)
n.452A>C
17g.63486650A>GCA400556108ACEc.2152A>G (p.Lys718Glu)
c.430A>G (p.Lys144Glu)
c.*222A>G (n.*222A>G)
c.333A>G (n.333A>G)
c.714A>G
c.*72A>G (n.*72A>G)
c.1603A>G (p.Lys535Glu)
c.490A>G (p.Lys164Glu)
c.1585A>G (p.Lys529Glu)
c.1300A>G (p.Lys434Glu)
c.82A>G (p.Lys28Glu)
n.452A>G
17g.63486650A>TCA400556110ACEc.2152A>T (p.Lys718Ter)
c.430A>T (p.Lys144Ter)
c.*222A>T (n.*222A>T)
c.333A>T (n.333A>T)
c.714A>T
c.*72A>T (n.*72A>T)
c.1603A>T (p.Lys535Ter)
c.490A>T (p.Lys164Ter)
c.1585A>T (p.Lys529Ter)
c.1300A>T (p.Lys434Ter)
c.82A>T (p.Lys28Ter)
n.452A>T
17g.63486651A=CA2269944865ACEc.2153A= (p.Lys718=)
c.431A= (p.Lys144=)
c.*223A= (n.*223A=)
c.334A= (n.334A=)
c.715A=
c.*73A= (n.*73A=)
c.1604A= (p.Lys535=)
c.491A= (p.Lys164=)
c.1586A= (p.Lys529=)
c.1301A= (p.Lys434=)
c.83A= (p.Lys28=)
n.453A=
17g.63486651A>CCA400556116ACEc.2153A>C (p.Lys718Thr)
c.431A>C (p.Lys144Thr)
c.*223A>C (n.*223A>C)
c.334A>C (n.334A>C)
c.715A>C
c.*73A>C (n.*73A>C)
c.1604A>C (p.Lys535Thr)
c.491A>C (p.Lys164Thr)
c.1586A>C (p.Lys529Thr)
c.1301A>C (p.Lys434Thr)
c.83A>C (p.Lys28Thr)
n.453A>C
17g.63486651A>GCA400556114ACEc.2153A>G (p.Lys718Arg)
c.431A>G (p.Lys144Arg)
c.*223A>G (n.*223A>G)
c.334A>G (n.334A>G)
c.715A>G
c.*73A>G (n.*73A>G)
c.1604A>G (p.Lys535Arg)
c.491A>G (p.Lys164Arg)
c.1586A>G (p.Lys529Arg)
c.1301A>G (p.Lys434Arg)
c.83A>G (p.Lys28Arg)
n.453A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63486651A>TCA400556113ACEc.2153A>T (p.Lys718Met)
c.431A>T (p.Lys144Met)
c.*223A>T (n.*223A>T)
c.334A>T (n.334A>T)
c.715A>T
c.*73A>T (n.*73A>T)
c.1604A>T (p.Lys535Met)
c.491A>T (p.Lys164Met)
c.1586A>T (p.Lys529Met)
c.1301A>T (p.Lys434Met)
c.83A>T (p.Lys28Met)
n.453A>T
17g.63486652G>ACA501184351ACEc.2154G>A (p.Lys718=)
c.432G>A (p.Lys144=)
c.*224G>A (n.*224G>A)
c.335G>A (n.335G>A)
c.716G>A
c.*74G>A (n.*74G>A)
c.1605G>A (p.Lys535=)
c.492G>A (p.Lys164=)
c.1587G>A (p.Lys529=)
c.1302G>A (p.Lys434=)
c.84G>A (p.Lys28=)
n.454G>A
17g.63486652G>CCA400556118ACEc.2154G>C (p.Lys718Asn)
c.432G>C (p.Lys144Asn)
c.*224G>C (n.*224G>C)
c.335G>C (n.335G>C)
c.716G>C
c.*74G>C (n.*74G>C)
c.1605G>C (p.Lys535Asn)
c.492G>C (p.Lys164Asn)
c.1587G>C (p.Lys529Asn)
c.1302G>C (p.Lys434Asn)
c.84G>C (p.Lys28Asn)
n.454G>C
17g.63486652G>TCA400556120ACEc.2154G>T (p.Lys718Asn)
c.432G>T (p.Lys144Asn)
c.*224G>T (n.*224G>T)
c.335G>T (n.335G>T)
c.716G>T
c.*74G>T (n.*74G>T)
c.1605G>T (p.Lys535Asn)
c.492G>T (p.Lys164Asn)
c.1587G>T (p.Lys529Asn)
c.1302G>T (p.Lys434Asn)
c.84G>T (p.Lys28Asn)
n.454G>T
17g.63486653C>ACA501184354ACEc.2155C>A (p.Arg719=)
c.433C>A (p.Arg145=)
c.*225C>A (n.*225C>A)
c.336C>A (n.336C>A)
c.717C>A
c.*75C>A (n.*75C>A)
c.1606C>A (p.Arg536=)
c.493C>A (p.Arg165=)
c.1588C>A (p.Arg530=)
c.1303C>A (p.Arg435=)
c.85C>A (p.Arg29=)
n.455C>A
17g.63486653C=CA2269944866ACEc.2155C= (p.Arg719=)
c.433C= (p.Arg145=)
c.*225C= (n.*225C=)
c.336C= (n.336C=)
c.717C=
c.*75C= (n.*75C=)
c.1606C= (p.Arg536=)
c.493C= (p.Arg165=)
c.1588C= (p.Arg530=)
c.1303C= (p.Arg435=)
c.85C= (p.Arg29=)
n.455C=
17g.63486653C>GCA400556123ACEc.2155C>G (p.Arg719Gly)
c.433C>G (p.Arg145Gly)
c.*225C>G (n.*225C>G)
c.336C>G (n.336C>G)
c.717C>G
c.*75C>G (n.*75C>G)
c.1606C>G (p.Arg536Gly)
c.493C>G (p.Arg165Gly)
c.1588C>G (p.Arg530Gly)
c.1303C>G (p.Arg435Gly)
c.85C>G (p.Arg29Gly)
n.455C>G
17g.63486653C>TCA8699948ACEc.2155C>T (p.Arg719Trp)
c.433C>T (p.Arg145Trp)
c.*225C>T (n.*225C>T)
c.336C>T (n.336C>T)
c.717C>T
c.*75C>T (n.*75C>T)
c.1606C>T (p.Arg536Trp)
c.493C>T (p.Arg165Trp)
c.1588C>T (p.Arg530Trp)
c.1303C>T (p.Arg435Trp)
c.85C>T (p.Arg29Trp)
n.455C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486654G>ACA8699949ACEc.2156G>A (p.Arg719Gln)
c.434G>A (p.Arg145Gln)
c.*226G>A (n.*226G>A)
c.337G>A (n.337G>A)
c.718G>A
c.*76G>A (n.*76G>A)
c.1607G>A (p.Arg536Gln)
c.494G>A (p.Arg165Gln)
c.1589G>A (p.Arg530Gln)
c.1304G>A (p.Arg435Gln)
c.86G>A (p.Arg29Gln)
n.456G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486654G>CCA400556128ACEc.2156G>C (p.Arg719Pro)
c.434G>C (p.Arg145Pro)
c.*226G>C (n.*226G>C)
c.337G>C (n.337G>C)
c.718G>C
c.*76G>C (n.*76G>C)
c.1607G>C (p.Arg536Pro)
c.494G>C (p.Arg165Pro)
c.1589G>C (p.Arg530Pro)
c.1304G>C (p.Arg435Pro)
c.86G>C (p.Arg29Pro)
n.456G>C
17g.63486654G=CA2269944867ACEc.2156G= (p.Arg719=)
c.434G= (p.Arg145=)
c.*226G= (n.*226G=)
c.337G= (n.337G=)
c.718G=
c.*76G= (n.*76G=)
c.1607G= (p.Arg536=)
c.494G= (p.Arg165=)
c.1589G= (p.Arg530=)
c.1304G= (p.Arg435=)
c.86G= (p.Arg29=)
n.456G=
17g.63486654G>TCA400556130ACEc.2156G>T (p.Arg719Leu)
c.434G>T (p.Arg145Leu)
c.*226G>T (n.*226G>T)
c.337G>T (n.337G>T)
c.718G>T
c.*76G>T (n.*76G>T)
c.1607G>T (p.Arg536Leu)
c.494G>T (p.Arg165Leu)
c.1589G>T (p.Arg530Leu)
c.1304G>T (p.Arg435Leu)
c.86G>T (p.Arg29Leu)
n.456G>T
17g.63486655G>ACA501184372ACEc.2157G>A (p.Arg719=)
c.435G>A (p.Arg145=)
c.*227G>A (n.*227G>A)
c.338G>A (n.338G>A)
c.719G>A
c.*77G>A (n.*77G>A)
c.1608G>A (p.Arg536=)
c.495G>A (p.Arg165=)
c.1590G>A (p.Arg530=)
c.1305G>A (p.Arg435=)
c.87G>A (p.Arg29=)
n.457G>A
17g.63486655G>CCA501184369ACEc.2157G>C (p.Arg719=)
c.435G>C (p.Arg145=)
c.*227G>C (n.*227G>C)
c.338G>C (n.338G>C)
c.719G>C
c.*77G>C (n.*77G>C)
c.1608G>C (p.Arg536=)
c.495G>C (p.Arg165=)
c.1590G>C (p.Arg530=)
c.1305G>C (p.Arg435=)
c.87G>C (p.Arg29=)
n.457G>C
17g.63486655G>TCA501184367ACEc.2157G>T (p.Arg719=)
c.435G>T (p.Arg145=)
c.*227G>T (n.*227G>T)
c.338G>T (n.338G>T)
c.719G>T
c.*77G>T (n.*77G>T)
c.1608G>T (p.Arg536=)
c.495G>T (p.Arg165=)
c.1590G>T (p.Arg530=)
c.1305G>T (p.Arg435=)
c.87G>T (p.Arg29=)
n.457G>T
 gnomAD v4
17g.63486656A>CCA400556132ACEc.2158A>C (p.Ile720Leu)
c.436A>C (p.Ile146Leu)
c.*228A>C (n.*228A>C)
c.339A>C (n.339A>C)
c.720A>C
c.*78A>C (n.*78A>C)
c.1609A>C (p.Ile537Leu)
c.496A>C (p.Ile166Leu)
c.1591A>C (p.Ile531Leu)
c.1306A>C (p.Ile436Leu)
c.88A>C (p.Ile30Leu)
n.458A>C
17g.63486656A>GCA400556134ACEc.2158A>G (p.Ile720Val)
c.436A>G (p.Ile146Val)
c.*228A>G (n.*228A>G)
c.339A>G (n.339A>G)
c.720A>G
c.*78A>G (n.*78A>G)
c.1609A>G (p.Ile537Val)
c.496A>G (p.Ile166Val)
c.1591A>G (p.Ile531Val)
c.1306A>G (p.Ile436Val)
c.88A>G (p.Ile30Val)
n.458A>G
17g.63486656A>TCA400556136ACEc.2158A>T (p.Ile720Phe)
c.436A>T (p.Ile146Phe)
c.*228A>T (n.*228A>T)
c.339A>T (n.339A>T)
c.720A>T
c.*78A>T (n.*78A>T)
c.1609A>T (p.Ile537Phe)
c.496A>T (p.Ile166Phe)
c.1591A>T (p.Ile531Phe)
c.1306A>T (p.Ile436Phe)
c.88A>T (p.Ile30Phe)
n.458A>T
17g.63486657T>ACA400556139ACEc.2159T>A (p.Ile720Asn)
c.437T>A (p.Ile146Asn)
c.*229T>A (n.*229T>A)
c.340T>A (n.340T>A)
c.721T>A
c.*79T>A (n.*79T>A)
c.1610T>A (p.Ile537Asn)
c.497T>A (p.Ile166Asn)
c.1592T>A (p.Ile531Asn)
c.1307T>A (p.Ile436Asn)
c.89T>A (p.Ile30Asn)
n.459T>A
17g.63486657T>CCA400556140ACEc.2159T>C (p.Ile720Thr)
c.437T>C (p.Ile146Thr)
c.*229T>C (n.*229T>C)
c.340T>C (n.340T>C)
c.721T>C
c.*79T>C (n.*79T>C)
c.1610T>C (p.Ile537Thr)
c.497T>C (p.Ile166Thr)
c.1592T>C (p.Ile531Thr)
c.1307T>C (p.Ile436Thr)
c.89T>C (p.Ile30Thr)
n.459T>C
17g.63486657T>GCA400556141ACEc.2159T>G (p.Ile720Ser)
c.437T>G (p.Ile146Ser)
c.*229T>G (n.*229T>G)
c.340T>G (n.340T>G)
c.721T>G
c.*79T>G (n.*79T>G)
c.1610T>G (p.Ile537Ser)
c.497T>G (p.Ile166Ser)
c.1592T>G (p.Ile531Ser)
c.1307T>G (p.Ile436Ser)
c.89T>G (p.Ile30Ser)
n.459T>G
17g.63486658C>ACA501184383ACEc.2160C>A (p.Ile720=)
c.438C>A (p.Ile146=)
c.*230C>A (n.*230C>A)
c.341C>A (n.341C>A)
c.722C>A
c.*80C>A (n.*80C>A)
c.1611C>A (p.Ile537=)
c.498C>A (p.Ile166=)
c.1593C>A (p.Ile531=)
c.1308C>A (p.Ile436=)
c.90C>A (p.Ile30=)
n.460C>A
 dbSNP gnomAD v2
17g.63486658C=CA2269944868ACEc.2160C= (p.Ile720=)
c.438C= (p.Ile146=)
c.*230C= (n.*230C=)
c.341C= (n.341C=)
c.722C=
c.*80C= (n.*80C=)
c.1611C= (p.Ile537=)
c.498C= (p.Ile166=)
c.1593C= (p.Ile531=)
c.1308C= (p.Ile436=)
c.90C= (p.Ile30=)
n.460C=
17g.63486658C>GCA400556142ACEc.2160C>G (p.Ile720Met)
c.438C>G (p.Ile146Met)
c.*230C>G (n.*230C>G)
c.341C>G (n.341C>G)
c.722C>G
c.*80C>G (n.*80C>G)
c.1611C>G (p.Ile537Met)
c.498C>G (p.Ile166Met)
c.1593C>G (p.Ile531Met)
c.1308C>G (p.Ile436Met)
c.90C>G (p.Ile30Met)
n.460C>G
17g.63486658C>TCA501184386ACEc.2160C>T (p.Ile720=)
c.438C>T (p.Ile146=)
c.*230C>T (n.*230C>T)
c.341C>T (n.341C>T)
c.722C>T
c.*80C>T (n.*80C>T)
c.1611C>T (p.Ile537=)
c.498C>T (p.Ile166=)
c.1593C>T (p.Ile531=)
c.1308C>T (p.Ile436=)
c.90C>T (p.Ile30=)
n.460C>T
17g.63486659A=CA2269944869ACEc.2161A= (p.Ile721=)
c.439A= (p.Ile147=)
c.*231A= (n.*231A=)
c.342A= (n.342A=)
c.723A=
c.*81A= (n.*81A=)
c.1612A= (p.Ile538=)
c.499A= (p.Ile167=)
c.1594A= (p.Ile532=)
c.1309A= (p.Ile437=)
c.91A= (p.Ile31=)
n.461A=
17g.63486659A>CCA400556148ACEc.2161A>C (p.Ile721Leu)
c.439A>C (p.Ile147Leu)
c.*231A>C (n.*231A>C)
c.342A>C (n.342A>C)
c.723A>C
c.*81A>C (n.*81A>C)
c.1612A>C (p.Ile538Leu)
c.499A>C (p.Ile167Leu)
c.1594A>C (p.Ile532Leu)
c.1309A>C (p.Ile437Leu)
c.91A>C (p.Ile31Leu)
n.461A>C
17g.63486659A>GCA8699950ACEc.2161A>G (p.Ile721Val)
c.439A>G (p.Ile147Val)
c.*231A>G (n.*231A>G)
c.342A>G (n.342A>G)
c.723A>G
c.*81A>G (n.*81A>G)
c.1612A>G (p.Ile538Val)
c.499A>G (p.Ile167Val)
c.1594A>G (p.Ile532Val)
c.1309A>G (p.Ile437Val)
c.91A>G (p.Ile31Val)
n.461A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63486659A>TCA400556145ACEc.2161A>T (p.Ile721Leu)
c.439A>T (p.Ile147Leu)
c.*231A>T (n.*231A>T)
c.342A>T (n.342A>T)
c.723A>T
c.*81A>T (n.*81A>T)
c.1612A>T (p.Ile538Leu)
c.499A>T (p.Ile167Leu)
c.1594A>T (p.Ile532Leu)
c.1309A>T (p.Ile437Leu)
c.91A>T (p.Ile31Leu)
n.461A>T
17g.63486660_63486661delCA2695226804ACEc.2162_2163del (p.Ile721LysfsTer?)
c.440_441del (p.Ile147LysfsTer?)
c.*232_*233del (n.*232_*233del)
c.343_344del (n.343_344del)
c.724_725del
c.*82_*83del (n.*82_*83del)
c.1613_1614del (p.Ile538LysfsTer?)
c.500_501del (p.Ile167LysfsTer?)
c.1595_1596del (p.Ile532LysfsTer?)
c.1310_1311del (p.Ile437LysfsTer?)
c.92_93del (p.Ile31LysfsTer?)
n.462_463del
17g.63486660T>ACA400556150ACEc.2162T>A (p.Ile721Lys)
c.440T>A (p.Ile147Lys)
c.*232T>A (n.*232T>A)
c.343T>A (n.343T>A)
c.724T>A
c.*82T>A (n.*82T>A)
c.1613T>A (p.Ile538Lys)
c.500T>A (p.Ile167Lys)
c.1595T>A (p.Ile532Lys)
c.1310T>A (p.Ile437Lys)
c.92T>A (p.Ile31Lys)
n.462T>A
17g.63486660T>CCA400556152ACEc.2162T>C (p.Ile721Thr)
c.440T>C (p.Ile147Thr)
c.*232T>C (n.*232T>C)
c.343T>C (n.343T>C)
c.724T>C
c.*82T>C (n.*82T>C)
c.1613T>C (p.Ile538Thr)
c.500T>C (p.Ile167Thr)
c.1595T>C (p.Ile532Thr)
c.1310T>C (p.Ile437Thr)
c.92T>C (p.Ile31Thr)
n.462T>C
17g.63486660T>GCA400556153ACEc.2162T>G (p.Ile721Arg)
c.440T>G (p.Ile147Arg)
c.*232T>G (n.*232T>G)
c.343T>G (n.343T>G)
c.724T>G
c.*82T>G (n.*82T>G)
c.1613T>G (p.Ile538Arg)
c.500T>G (p.Ile167Arg)
c.1595T>G (p.Ile532Arg)
c.1310T>G (p.Ile437Arg)
c.92T>G (p.Ile31Arg)
n.462T>G
17g.63486661A=CA2269944870ACEc.2163A= (p.Ile721=)
c.441A= (p.Ile147=)
c.*233A= (n.*233A=)
c.344A= (n.344A=)
c.725A=
c.*83A= (n.*83A=)
c.1614A= (p.Ile538=)
c.501A= (p.Ile167=)
c.1596A= (p.Ile532=)
c.1311A= (p.Ile437=)
c.93A= (p.Ile31=)
n.463A=
17g.63486661A>CCA501184397ACEc.2163A>C (p.Ile721=)
c.441A>C (p.Ile147=)
c.*233A>C (n.*233A>C)
c.344A>C (n.344A>C)
c.725A>C
c.*83A>C (n.*83A>C)
c.1614A>C (p.Ile538=)
c.501A>C (p.Ile167=)
c.1596A>C (p.Ile532=)
c.1311A>C (p.Ile437=)
c.93A>C (p.Ile31=)
n.463A>C
17g.63486661A>GCA400556155ACEc.2163A>G (p.Ile721Met)
c.441A>G (p.Ile147Met)
c.*233A>G (n.*233A>G)
c.344A>G (n.344A>G)
c.725A>G
c.*83A>G (n.*83A>G)
c.1614A>G (p.Ile538Met)
c.501A>G (p.Ile167Met)
c.1596A>G (p.Ile532Met)
c.1311A>G (p.Ile437Met)
c.93A>G (p.Ile31Met)
n.463A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63486661A>TCA501184402ACEc.2163A>T (p.Ile721=)
c.441A>T (p.Ile147=)
c.*233A>T (n.*233A>T)
c.344A>T (n.344A>T)
c.725A>T
c.*83A>T (n.*83A>T)
c.1614A>T (p.Ile538=)
c.501A>T (p.Ile167=)
c.1596A>T (p.Ile532=)
c.1311A>T (p.Ile437=)
c.93A>T (p.Ile31=)
n.463A>T
17g.63486663_63486666delCA2639263166ACEc.2165_2168del (p.Lys722ArgfsTer5)
c.443_446del (p.Lys148ArgfsTer5)
c.*235_*238del (n.*235_*238del)
c.346_349del (n.346_349del)
c.727_730del
c.*85_*88del (n.*85_*88del)
c.1616_1619del (p.Lys539ArgfsTer5)
c.503_506del (p.Lys168ArgfsTer5)
c.1598_1601del (p.Lys533ArgfsTer5)
c.1313_1316del (p.Lys438ArgfsTer5)
c.95_98del (p.Lys32ArgfsTer5)
n.465_468del
 gnomAD v4
17g.63486662A>CCA400556156ACEc.2164A>C (p.Lys722Gln)
c.442A>C (p.Lys148Gln)
c.*234A>C (n.*234A>C)
c.345A>C (n.345A>C)
c.726A>C
c.*84A>C (n.*84A>C)
c.1615A>C (p.Lys539Gln)
c.502A>C (p.Lys168Gln)
c.1597A>C (p.Lys533Gln)
c.1312A>C (p.Lys438Gln)
c.94A>C (p.Lys32Gln)
n.464A>C
17g.63486662A>GCA400556158ACEc.2164A>G (p.Lys722Glu)
c.442A>G (p.Lys148Glu)
c.*234A>G (n.*234A>G)
c.345A>G (n.345A>G)
c.726A>G
c.*84A>G (n.*84A>G)
c.1615A>G (p.Lys539Glu)
c.502A>G (p.Lys168Glu)
c.1597A>G (p.Lys533Glu)
c.1312A>G (p.Lys438Glu)
c.94A>G (p.Lys32Glu)
n.464A>G
17g.63486662A>TCA400556159ACEc.2164A>T (p.Lys722Ter)
c.442A>T (p.Lys148Ter)
c.*234A>T (n.*234A>T)
c.345A>T (n.345A>T)
c.726A>T
c.*84A>T (n.*84A>T)
c.1615A>T (p.Lys539Ter)
c.502A>T (p.Lys168Ter)
c.1597A>T (p.Lys533Ter)
c.1312A>T (p.Lys438Ter)
c.94A>T (p.Lys32Ter)
n.464A>T
17g.63486663A>CCA400556166ACEc.2165A>C (p.Lys722Thr)
c.443A>C (p.Lys148Thr)
c.*235A>C (n.*235A>C)
c.346A>C (n.346A>C)
c.727A>C
c.*85A>C (n.*85A>C)
c.1616A>C (p.Lys539Thr)
c.503A>C (p.Lys168Thr)
c.1598A>C (p.Lys533Thr)
c.1313A>C (p.Lys438Thr)
c.95A>C (p.Lys32Thr)
n.465A>C
17g.63486663A>GCA400556162ACEc.2165A>G (p.Lys722Arg)
c.443A>G (p.Lys148Arg)
c.*235A>G (n.*235A>G)
c.346A>G (n.346A>G)
c.727A>G
c.*85A>G (n.*85A>G)
c.1616A>G (p.Lys539Arg)
c.503A>G (p.Lys168Arg)
c.1598A>G (p.Lys533Arg)
c.1313A>G (p.Lys438Arg)
c.95A>G (p.Lys32Arg)
n.465A>G
17g.63486663A>TCA400556164ACEc.2165A>T (p.Lys722Met)
c.443A>T (p.Lys148Met)
c.*235A>T (n.*235A>T)
c.346A>T (n.346A>T)
c.727A>T
c.*85A>T (n.*85A>T)
c.1616A>T (p.Lys539Met)
c.503A>T (p.Lys168Met)
c.1598A>T (p.Lys533Met)
c.1313A>T (p.Lys438Met)
c.95A>T (p.Lys32Met)
n.465A>T
17g.63486664G>ACA501184415ACEc.2166G>A (p.Lys722=)
c.444G>A (p.Lys148=)
c.*236G>A (n.*236G>A)
c.347G>A (n.347G>A)
c.728G>A
c.*86G>A (n.*86G>A)
c.1617G>A (p.Lys539=)
c.504G>A (p.Lys168=)
c.1599G>A (p.Lys533=)
c.1314G>A (p.Lys438=)
c.96G>A (p.Lys32=)
n.466G>A
17g.63486664G>CCA8699951ACEc.2166G>C (p.Lys722Asn)
c.444G>C (p.Lys148Asn)
c.*236G>C (n.*236G>C)
c.347G>C (n.347G>C)
c.728G>C
c.*86G>C (n.*86G>C)
c.1617G>C (p.Lys539Asn)
c.504G>C (p.Lys168Asn)
c.1599G>C (p.Lys533Asn)
c.1314G>C (p.Lys438Asn)
c.96G>C (p.Lys32Asn)
n.466G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486664G=CA2269944871ACEc.2166G= (p.Lys722=)
c.444G= (p.Lys148=)
c.*236G= (n.*236G=)
c.347G= (n.347G=)
c.728G=
c.*86G= (n.*86G=)
c.1617G= (p.Lys539=)
c.504G= (p.Lys168=)
c.1599G= (p.Lys533=)
c.1314G= (p.Lys438=)
c.96G= (p.Lys32=)
n.466G=
17g.63486664G>TCA400556170ACEc.2166G>T (p.Lys722Asn)
c.444G>T (p.Lys148Asn)
c.*236G>T (n.*236G>T)
c.347G>T (n.347G>T)
c.728G>T
c.*86G>T (n.*86G>T)
c.1617G>T (p.Lys539Asn)
c.504G>T (p.Lys168Asn)
c.1599G>T (p.Lys533Asn)
c.1314G>T (p.Lys438Asn)
c.96G>T (p.Lys32Asn)
n.466G>T
17g.63486665A>CCA400556174ACEc.2167A>C (p.Lys723Gln)
c.445A>C (p.Lys149Gln)
c.*237A>C (n.*237A>C)
c.348A>C (n.348A>C)
c.729A>C
c.*87A>C (n.*87A>C)
c.1618A>C (p.Lys540Gln)
c.505A>C (p.Lys169Gln)
c.1600A>C (p.Lys534Gln)
c.1315A>C (p.Lys439Gln)
c.97A>C (p.Lys33Gln)
n.467A>C
17g.63486665A>GCA400556176ACEc.2167A>G (p.Lys723Glu)
c.445A>G (p.Lys149Glu)
c.*237A>G (n.*237A>G)
c.348A>G (n.348A>G)
c.729A>G
c.*87A>G (n.*87A>G)
c.1618A>G (p.Lys540Glu)
c.505A>G (p.Lys169Glu)
c.1600A>G (p.Lys534Glu)
c.1315A>G (p.Lys439Glu)
c.97A>G (p.Lys33Glu)
n.467A>G
17g.63486665A>TCA400556178ACEc.2167A>T (p.Lys723Ter)
c.445A>T (p.Lys149Ter)
c.*237A>T (n.*237A>T)
c.348A>T (n.348A>T)
c.729A>T
c.*87A>T (n.*87A>T)
c.1618A>T (p.Lys540Ter)
c.505A>T (p.Lys169Ter)
c.1600A>T (p.Lys534Ter)
c.1315A>T (p.Lys439Ter)
c.97A>T (p.Lys33Ter)
n.467A>T
17g.63486666A>CCA400556182ACEc.2168A>C (p.Lys723Thr)
c.446A>C (p.Lys149Thr)
c.*238A>C (n.*238A>C)
c.349A>C (n.349A>C)
c.730A>C
c.*88A>C (n.*88A>C)
c.1619A>C (p.Lys540Thr)
c.506A>C (p.Lys169Thr)
c.1601A>C (p.Lys534Thr)
c.1316A>C (p.Lys439Thr)
c.98A>C (p.Lys33Thr)
n.468A>C
17g.63486666A>GCA400556186ACEc.2168A>G (p.Lys723Arg)
c.446A>G (p.Lys149Arg)
c.*238A>G (n.*238A>G)
c.349A>G (n.349A>G)
c.730A>G
c.*88A>G (n.*88A>G)
c.1619A>G (p.Lys540Arg)
c.506A>G (p.Lys169Arg)
c.1601A>G (p.Lys534Arg)
c.1316A>G (p.Lys439Arg)
c.98A>G (p.Lys33Arg)
n.468A>G
17g.63486666A>TCA400556184ACEc.2168A>T (p.Lys723Met)
c.446A>T (p.Lys149Met)
c.*238A>T (n.*238A>T)
c.349A>T (n.349A>T)
c.730A>T
c.*88A>T (n.*88A>T)
c.1619A>T (p.Lys540Met)
c.506A>T (p.Lys169Met)
c.1601A>T (p.Lys534Met)
c.1316A>T (p.Lys439Met)
c.98A>T (p.Lys33Met)
n.468A>T
17g.63486667G>ACA501184432ACEc.2169G>A (p.Lys723=)
c.447G>A (p.Lys149=)
c.*239G>A (n.*239G>A)
c.350G>A (n.350G>A)
c.731G>A
c.*89G>A (n.*89G>A)
c.1620G>A (p.Lys540=)
c.507G>A (p.Lys169=)
c.1602G>A (p.Lys534=)
c.1317G>A (p.Lys439=)
c.99G>A (p.Lys33=)
n.469G>A
 dbSNP
17g.63486667G>CCA400556188ACEc.2169G>C (p.Lys723Asn)
c.447G>C (p.Lys149Asn)
c.*239G>C (n.*239G>C)
c.350G>C (n.350G>C)
c.731G>C
c.*89G>C (n.*89G>C)
c.1620G>C (p.Lys540Asn)
c.507G>C (p.Lys169Asn)
c.1602G>C (p.Lys534Asn)
c.1317G>C (p.Lys439Asn)
c.99G>C (p.Lys33Asn)
n.469G>C
 dbSNP gnomAD v2 gnomAD v4
17g.63486667G=CA2269944872ACEc.2169G= (p.Lys723=)
c.447G= (p.Lys149=)
c.*239G= (n.*239G=)
c.350G= (n.350G=)
c.731G=
c.*89G= (n.*89G=)
c.1620G= (p.Lys540=)
c.507G= (p.Lys169=)
c.1602G= (p.Lys534=)
c.1317G= (p.Lys439=)
c.99G= (p.Lys33=)
n.469G=
17g.63486667G>TCA400556190ACEc.2169G>T (p.Lys723Asn)
c.447G>T (p.Lys149Asn)
c.*239G>T (n.*239G>T)
c.350G>T (n.350G>T)
c.731G>T
c.*89G>T (n.*89G>T)
c.1620G>T (p.Lys540Asn)
c.507G>T (p.Lys169Asn)
c.1602G>T (p.Lys534Asn)
c.1317G>T (p.Lys439Asn)
c.99G>T (p.Lys33Asn)
n.469G>T
 dbSNP gnomAD v2 gnomAD v4
17g.63486668G>ACA400556193ACEc.2170G>A (p.Val724Ile)
c.448G>A (p.Val150Ile)
c.*240G>A (n.*240G>A)
c.351G>A (n.351G>A)
c.732G>A
c.*90G>A (n.*90G>A)
c.1621G>A (p.Val541Ile)
c.508G>A (p.Val170Ile)
c.1603G>A (p.Val535Ile)
c.1318G>A (p.Val440Ile)
c.100G>A (p.Val34Ile)
n.470G>A
17g.63486668G>CCA400556195ACEc.2170G>C (p.Val724Leu)
c.448G>C (p.Val150Leu)
c.*240G>C (n.*240G>C)
c.351G>C (n.351G>C)
c.732G>C
c.*90G>C (n.*90G>C)
c.1621G>C (p.Val541Leu)
c.508G>C (p.Val170Leu)
c.1603G>C (p.Val535Leu)
c.1318G>C (p.Val440Leu)
c.100G>C (p.Val34Leu)
n.470G>C
17g.63486668G>TCA400556197ACEc.2170G>T (p.Val724Phe)
c.448G>T (p.Val150Phe)
c.*240G>T (n.*240G>T)
c.351G>T (n.351G>T)
c.732G>T
c.*90G>T (n.*90G>T)
c.1621G>T (p.Val541Phe)
c.508G>T (p.Val170Phe)
c.1603G>T (p.Val535Phe)
c.1318G>T (p.Val440Phe)
c.100G>T (p.Val34Phe)
n.470G>T
17g.63486669T>ACA400556200ACEc.2171T>A (p.Val724Asp)
c.449T>A (p.Val150Asp)
c.*241T>A (n.*241T>A)
c.352T>A (n.352T>A)
c.733T>A
c.*91T>A (n.*91T>A)
c.1622T>A (p.Val541Asp)
c.509T>A (p.Val170Asp)
c.1604T>A (p.Val535Asp)
c.1319T>A (p.Val440Asp)
c.101T>A (p.Val34Asp)
n.471T>A
17g.63486669T>CCA400556203ACEc.2171T>C (p.Val724Ala)
c.449T>C (p.Val150Ala)
c.*241T>C (n.*241T>C)
c.352T>C (n.352T>C)
c.733T>C
c.*91T>C (n.*91T>C)
c.1622T>C (p.Val541Ala)
c.509T>C (p.Val170Ala)
c.1604T>C (p.Val535Ala)
c.1319T>C (p.Val440Ala)
c.101T>C (p.Val34Ala)
n.471T>C
17g.63486669T>GCA400556205ACEc.2171T>G (p.Val724Gly)
c.449T>G (p.Val150Gly)
c.*241T>G (n.*241T>G)
c.352T>G (n.352T>G)
c.733T>G
c.*91T>G (n.*91T>G)
c.1622T>G (p.Val541Gly)
c.509T>G (p.Val170Gly)
c.1604T>G (p.Val535Gly)
c.1319T>G (p.Val440Gly)
c.101T>G (p.Val34Gly)
n.471T>G
17g.63486670T>ACA501184453ACEc.2172T>A (p.Val724=)
c.450T>A (p.Val150=)
c.*242T>A (n.*242T>A)
c.353T>A (n.353T>A)
c.734T>A
c.*92T>A (n.*92T>A)
c.1623T>A (p.Val541=)
c.510T>A (p.Val170=)
c.1605T>A (p.Val535=)
c.1320T>A (p.Val440=)
c.102T>A (p.Val34=)
n.472T>A
 gnomAD v4
17g.63486670T>CCA501184454ACEc.2172T>C (p.Val724=)
c.450T>C (p.Val150=)
c.*242T>C (n.*242T>C)
c.353T>C (n.353T>C)
c.734T>C
c.*92T>C (n.*92T>C)
c.1623T>C (p.Val541=)
c.510T>C (p.Val170=)
c.1605T>C (p.Val535=)
c.1320T>C (p.Val440=)
c.102T>C (p.Val34=)
n.472T>C
17g.63486670T>GCA501184456ACEc.2172T>G (p.Val724=)
c.450T>G (p.Val150=)
c.*242T>G (n.*242T>G)
c.353T>G (n.353T>G)
c.734T>G
c.*92T>G (n.*92T>G)
c.1623T>G (p.Val541=)
c.510T>G (p.Val170=)
c.1605T>G (p.Val535=)
c.1320T>G (p.Val440=)
c.102T>G (p.Val34=)
n.472T>G
17g.63486671C>ACA400556208ACEc.2173C>A (p.Gln725Lys)
c.451C>A (p.Gln151Lys)
c.*243C>A (n.*243C>A)
c.354C>A (n.354C>A)
c.735C>A
c.*93C>A (n.*93C>A)
c.1624C>A (p.Gln542Lys)
c.511C>A (p.Gln171Lys)
c.1606C>A (p.Gln536Lys)
c.1321C>A (p.Gln441Lys)
c.103C>A (p.Gln35Lys)
n.473C>A
17g.63486671C=CA2269944873ACEc.2173C= (p.Gln725=)
c.451C= (p.Gln151=)
c.*243C= (n.*243C=)
c.354C= (n.354C=)
c.735C=
c.*93C= (n.*93C=)
c.1624C= (p.Gln542=)
c.511C= (p.Gln171=)
c.1606C= (p.Gln536=)
c.1321C= (p.Gln441=)
c.103C= (p.Gln35=)
n.473C=
17g.63486671C>GCA8699952ACEc.2173C>G (p.Gln725Glu)
c.451C>G (p.Gln151Glu)
c.*243C>G (n.*243C>G)
c.354C>G (n.354C>G)
c.735C>G
c.*93C>G (n.*93C>G)
c.1624C>G (p.Gln542Glu)
c.511C>G (p.Gln171Glu)
c.1606C>G (p.Gln536Glu)
c.1321C>G (p.Gln441Glu)
c.103C>G (p.Gln35Glu)
n.473C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486671C>TCA400556212ACEc.2173C>T (p.Gln725Ter)
c.451C>T (p.Gln151Ter)
c.*243C>T (n.*243C>T)
c.354C>T (n.354C>T)
c.735C>T
c.*93C>T (n.*93C>T)
c.1624C>T (p.Gln542Ter)
c.511C>T (p.Gln171Ter)
c.1606C>T (p.Gln536Ter)
c.1321C>T (p.Gln441Ter)
c.103C>T (p.Gln35Ter)
n.473C>T
 ClinVar dbSNP gnomAD v4
17g.63486672A>CCA400556215ACEc.2174A>C (p.Gln725Pro)
c.452A>C (p.Gln151Pro)
c.*244A>C (n.*244A>C)
c.355A>C (n.355A>C)
c.736A>C
c.*94A>C (n.*94A>C)
c.1625A>C (p.Gln542Pro)
c.512A>C (p.Gln171Pro)
c.1607A>C (p.Gln536Pro)
c.1322A>C (p.Gln441Pro)
c.104A>C (p.Gln35Pro)
n.474A>C
17g.63486672A>GCA400556219ACEc.2174A>G (p.Gln725Arg)
c.452A>G (p.Gln151Arg)
c.*244A>G (n.*244A>G)
c.355A>G (n.355A>G)
c.736A>G
c.*94A>G (n.*94A>G)
c.1625A>G (p.Gln542Arg)
c.512A>G (p.Gln171Arg)
c.1607A>G (p.Gln536Arg)
c.1322A>G (p.Gln441Arg)
c.104A>G (p.Gln35Arg)
n.474A>G
 gnomAD v4
17g.63486672A>TCA400556217ACEc.2174A>T (p.Gln725Leu)
c.452A>T (p.Gln151Leu)
c.*244A>T (n.*244A>T)
c.355A>T (n.355A>T)
c.736A>T
c.*94A>T (n.*94A>T)
c.1625A>T (p.Gln542Leu)
c.512A>T (p.Gln171Leu)
c.1607A>T (p.Gln536Leu)
c.1322A>T (p.Gln441Leu)
c.104A>T (p.Gln35Leu)
n.474A>T
17g.63486673G>ACA501184473ACEc.2175G>A (p.Gln725=)
c.453G>A (p.Gln151=)
c.*245G>A (n.*245G>A)
c.356G>A (n.356G>A)
c.737G>A
c.*95G>A (n.*95G>A)
c.1626G>A (p.Gln542=)
c.513G>A (p.Gln171=)
c.1608G>A (p.Gln536=)
c.1323G>A (p.Gln441=)
c.105G>A (p.Gln35=)
n.475G>A
17g.63486673G>CCA400556222ACEc.2175G>C (p.Gln725His)
c.453G>C (p.Gln151His)
c.*245G>C (n.*245G>C)
c.356G>C (n.356G>C)
c.737G>C
c.*95G>C (n.*95G>C)
c.1626G>C (p.Gln542His)
c.513G>C (p.Gln171His)
c.1608G>C (p.Gln536His)
c.1323G>C (p.Gln441His)
c.105G>C (p.Gln35His)
n.475G>C
17g.63486673G=CA2269944874ACEc.2175G= (p.Gln725=)
c.453G= (p.Gln151=)
c.*245G= (n.*245G=)
c.356G= (n.356G=)
c.737G=
c.*95G= (n.*95G=)
c.1626G= (p.Gln542=)
c.513G= (p.Gln171=)
c.1608G= (p.Gln536=)
c.1323G= (p.Gln441=)
c.105G= (p.Gln35=)
n.475G=
17g.63486673G>TCA400556225ACEc.2175G>T (p.Gln725His)
c.453G>T (p.Gln151His)
c.*245G>T (n.*245G>T)
c.356G>T (n.356G>T)
c.737G>T
c.*95G>T (n.*95G>T)
c.1626G>T (p.Gln542His)
c.513G>T (p.Gln171His)
c.1608G>T (p.Gln536His)
c.1323G>T (p.Gln441His)
c.105G>T (p.Gln35His)
n.475G>T
 dbSNP gnomAD v4
17g.63486674G>ACA400556228ACEc.2176G>A (p.Asp726Asn)
c.454G>A (p.Asp152Asn)
c.*246G>A (n.*246G>A)
c.357G>A (n.357G>A)
c.738G>A
c.*96G>A (n.*96G>A)
c.1627G>A (p.Asp543Asn)
c.514G>A (p.Asp172Asn)
c.1609G>A (p.Asp537Asn)
c.1324G>A (p.Asp442Asn)
c.106G>A (p.Asp36Asn)
n.476G>A
 COSMIC COSMIC COSMIC
17g.63486674G>CCA400556230ACEc.2176G>C (p.Asp726His)
c.454G>C (p.Asp152His)
c.*246G>C (n.*246G>C)
c.357G>C (n.357G>C)
c.738G>C
c.*96G>C (n.*96G>C)
c.1627G>C (p.Asp543His)
c.514G>C (p.Asp172His)
c.1609G>C (p.Asp537His)
c.1324G>C (p.Asp442His)
c.106G>C (p.Asp36His)
n.476G>C
17g.63486674G>TCA400556232ACEc.2176G>T (p.Asp726Tyr)
c.454G>T (p.Asp152Tyr)
c.*246G>T (n.*246G>T)
c.357G>T (n.357G>T)
c.738G>T
c.*96G>T (n.*96G>T)
c.1627G>T (p.Asp543Tyr)
c.514G>T (p.Asp172Tyr)
c.1609G>T (p.Asp537Tyr)
c.1324G>T (p.Asp442Tyr)
c.106G>T (p.Asp36Tyr)
n.476G>T
17g.63486675A=CA2269944875ACEc.2177A= (p.Asp726=)
c.455A= (p.Asp152=)
c.*247A= (n.*247A=)
c.358A= (n.358A=)
c.739A=
c.*97A= (n.*97A=)
c.1628A= (p.Asp543=)
c.515A= (p.Asp172=)
c.1610A= (p.Asp537=)
c.1325A= (p.Asp442=)
c.107A= (p.Asp36=)
n.477A=
17g.63486675A>CCA400556235ACEc.2177A>C (p.Asp726Ala)
c.455A>C (p.Asp152Ala)
c.*247A>C (n.*247A>C)
c.358A>C (n.358A>C)
c.739A>C
c.*97A>C (n.*97A>C)
c.1628A>C (p.Asp543Ala)
c.515A>C (p.Asp172Ala)
c.1610A>C (p.Asp537Ala)
c.1325A>C (p.Asp442Ala)
c.107A>C (p.Asp36Ala)
n.477A>C
17g.63486675A>GCA400556237ACEc.2177A>G (p.Asp726Gly)
c.455A>G (p.Asp152Gly)
c.*247A>G (n.*247A>G)
c.358A>G (n.358A>G)
c.739A>G
c.*97A>G (n.*97A>G)
c.1628A>G (p.Asp543Gly)
c.515A>G (p.Asp172Gly)
c.1610A>G (p.Asp537Gly)
c.1325A>G (p.Asp442Gly)
c.107A>G (p.Asp36Gly)
n.477A>G
17g.63486675A>TCA400556239ACEc.2177A>T (p.Asp726Val)
c.455A>T (p.Asp152Val)
c.*247A>T (n.*247A>T)
c.358A>T (n.358A>T)
c.739A>T
c.*97A>T (n.*97A>T)
c.1628A>T (p.Asp543Val)
c.515A>T (p.Asp172Val)
c.1610A>T (p.Asp537Val)
c.1325A>T (p.Asp442Val)
c.107A>T (p.Asp36Val)
n.477A>T
 dbSNP gnomAD v2 gnomAD v4
17g.63486676C>ACA400556242ACEc.2178C>A (p.Asp726Glu)
c.456C>A (p.Asp152Glu)
c.*248C>A (n.*248C>A)
c.359C>A (n.359C>A)
c.740C>A
c.*98C>A (n.*98C>A)
c.1629C>A (p.Asp543Glu)
c.516C>A (p.Asp172Glu)
c.1611C>A (p.Asp537Glu)
c.1326C>A (p.Asp442Glu)
c.108C>A (p.Asp36Glu)
n.478C>A
17g.63486676C=CA2269944876ACEc.2178C= (p.Asp726=)
c.456C= (p.Asp152=)
c.*248C= (n.*248C=)
c.359C= (n.359C=)
c.740C=
c.*98C= (n.*98C=)
c.1629C= (p.Asp543=)
c.516C= (p.Asp172=)
c.1611C= (p.Asp537=)
c.1326C= (p.Asp442=)
c.108C= (p.Asp36=)
n.478C=
17g.63486676C>GCA400556245ACEc.2178C>G (p.Asp726Glu)
c.456C>G (p.Asp152Glu)
c.*248C>G (n.*248C>G)
c.359C>G (n.359C>G)
c.740C>G
c.*98C>G (n.*98C>G)
c.1629C>G (p.Asp543Glu)
c.516C>G (p.Asp172Glu)
c.1611C>G (p.Asp537Glu)
c.1326C>G (p.Asp442Glu)
c.108C>G (p.Asp36Glu)
n.478C>G
17g.63486676C>TCA292881525ACEc.2178C>T (p.Asp726=)
c.456C>T (p.Asp152=)
c.*248C>T (n.*248C>T)
c.359C>T (n.359C>T)
c.740C>T
c.*98C>T (n.*98C>T)
c.1629C>T (p.Asp543=)
c.516C>T (p.Asp172=)
c.1611C>T (p.Asp537=)
c.1326C>T (p.Asp442=)
c.108C>T (p.Asp36=)
n.478C>T
 dbSNP gnomAD v4
17g.63486677C>ACA400556248ACEc.2179C>A (p.Leu727Ile)
c.457C>A (p.Leu153Ile)
c.*249C>A (n.*249C>A)
c.360C>A (n.360C>A)
c.741C>A
c.*99C>A (n.*99C>A)
c.1630C>A (p.Leu544Ile)
c.517C>A (p.Leu173Ile)
c.1612C>A (p.Leu538Ile)
c.1327C>A (p.Leu443Ile)
c.109C>A (p.Leu37Ile)
n.479C>A
17g.63486677C>GCA400556251ACEc.2179C>G (p.Leu727Val)
c.457C>G (p.Leu153Val)
c.*249C>G (n.*249C>G)
c.360C>G (n.360C>G)
c.741C>G
c.*99C>G (n.*99C>G)
c.1630C>G (p.Leu544Val)
c.517C>G (p.Leu173Val)
c.1612C>G (p.Leu538Val)
c.1327C>G (p.Leu443Val)
c.109C>G (p.Leu37Val)
n.479C>G
 gnomAD v4
17g.63486677C>TCA501184489ACEc.2179C>T (p.Leu727=)
c.457C>T (p.Leu153=)
c.*249C>T (n.*249C>T)
c.360C>T (n.360C>T)
c.741C>T
c.*99C>T (n.*99C>T)
c.1630C>T (p.Leu544=)
c.517C>T (p.Leu173=)
c.1612C>T (p.Leu538=)
c.1327C>T (p.Leu443=)
c.109C>T (p.Leu37=)
n.479C>T
17g.63486678T>ACA400556253ACEc.2180T>A (p.Leu727Gln)
c.458T>A (p.Leu153Gln)
c.*250T>A (n.*250T>A)
c.361T>A (n.361T>A)
c.742T>A
c.*100T>A (n.*100T>A)
c.1631T>A (p.Leu544Gln)
c.518T>A (p.Leu173Gln)
c.1613T>A (p.Leu538Gln)
c.1328T>A (p.Leu443Gln)
c.110T>A (p.Leu37Gln)
n.480T>A
17g.63486678T>CCA400556255ACEc.2180T>C (p.Leu727Pro)
c.458T>C (p.Leu153Pro)
c.*250T>C (n.*250T>C)
c.361T>C (n.361T>C)
c.742T>C
c.*100T>C (n.*100T>C)
c.1631T>C (p.Leu544Pro)
c.518T>C (p.Leu173Pro)
c.1613T>C (p.Leu538Pro)
c.1328T>C (p.Leu443Pro)
c.110T>C (p.Leu37Pro)
n.480T>C
17g.63486678T>GCA400556257ACEc.2180T>G (p.Leu727Arg)
c.458T>G (p.Leu153Arg)
c.*250T>G (n.*250T>G)
c.361T>G (n.361T>G)
c.742T>G
c.*100T>G (n.*100T>G)
c.1631T>G (p.Leu544Arg)
c.518T>G (p.Leu173Arg)
c.1613T>G (p.Leu538Arg)
c.1328T>G (p.Leu443Arg)
c.110T>G (p.Leu37Arg)
n.480T>G
 dbSNP
17g.63486678T=CA2269944877ACEc.2180T= (p.Leu727=)
c.458T= (p.Leu153=)
c.*250T= (n.*250T=)
c.361T= (n.361T=)
c.742T=
c.*100T= (n.*100T=)
c.1631T= (p.Leu544=)
c.518T= (p.Leu173=)
c.1613T= (p.Leu538=)
c.1328T= (p.Leu443=)
c.110T= (p.Leu37=)
n.480T=
17g.63486679A=CA2269944878ACEc.2181A= (p.Leu727=)
c.459A= (p.Leu153=)
c.*251A= (n.*251A=)
c.362A= (n.362A=)
c.743A=
c.*101A= (n.*101A=)
c.1632A= (p.Leu544=)
c.519A= (p.Leu173=)
c.1614A= (p.Leu538=)
c.1329A= (p.Leu443=)
c.111A= (p.Leu37=)
n.481A=
17g.63486679A>CCA501184496ACEc.2181A>C (p.Leu727=)
c.459A>C (p.Leu153=)
c.*251A>C (n.*251A>C)
c.362A>C (n.362A>C)
c.743A>C
c.*101A>C (n.*101A>C)
c.1632A>C (p.Leu544=)
c.519A>C (p.Leu173=)
c.1614A>C (p.Leu538=)
c.1329A>C (p.Leu443=)
c.111A>C (p.Leu37=)
n.481A>C
17g.63486679A>GCA8699953ACEc.2181A>G (p.Leu727=)
c.459A>G (p.Leu153=)
c.*251A>G (n.*251A>G)
c.362A>G (n.362A>G)
c.743A>G
c.*101A>G (n.*101A>G)
c.1632A>G (p.Leu544=)
c.519A>G (p.Leu173=)
c.1614A>G (p.Leu538=)
c.1329A>G (p.Leu443=)
c.111A>G (p.Leu37=)
n.481A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486679A>TCA501184493ACEc.2181A>T (p.Leu727=)
c.459A>T (p.Leu153=)
c.*251A>T (n.*251A>T)
c.362A>T (n.362A>T)
c.743A>T
c.*101A>T (n.*101A>T)
c.1632A>T (p.Leu544=)
c.519A>T (p.Leu173=)
c.1614A>T (p.Leu538=)
c.1329A>T (p.Leu443=)
c.111A>T (p.Leu37=)
n.481A>T
17g.63486680G>ACA400556261ACEc.2182G>A (p.Glu728Lys)
c.460G>A (p.Glu154Lys)
c.*252G>A (n.*252G>A)
c.363G>A (n.363G>A)
c.744G>A
c.*102G>A (n.*102G>A)
c.1633G>A (p.Glu545Lys)
c.520G>A (p.Glu174Lys)
c.1615G>A (p.Glu539Lys)
c.1330G>A (p.Glu444Lys)
c.112G>A (p.Glu38Lys)
n.482G>A
17g.63486680G>CCA400556264ACEc.2182G>C (p.Glu728Gln)
c.460G>C (p.Glu154Gln)
c.*252G>C (n.*252G>C)
c.363G>C (n.363G>C)
c.744G>C
c.*102G>C (n.*102G>C)
c.1633G>C (p.Glu545Gln)
c.520G>C (p.Glu174Gln)
c.1615G>C (p.Glu539Gln)
c.1330G>C (p.Glu444Gln)
c.112G>C (p.Glu38Gln)
n.482G>C
17g.63486680G>TCA400556267ACEc.2182G>T (p.Glu728Ter)
c.460G>T (p.Glu154Ter)
c.*252G>T (n.*252G>T)
c.363G>T (n.363G>T)
c.744G>T
c.*102G>T (n.*102G>T)
c.1633G>T (p.Glu545Ter)
c.520G>T (p.Glu174Ter)
c.1615G>T (p.Glu539Ter)
c.1330G>T (p.Glu444Ter)
c.112G>T (p.Glu38Ter)
n.482G>T
17g.63486681_63486685delCA2639263167ACEc.2183_2187del (p.Glu728GlyfsTer?)
c.461_465del (p.Glu154GlyfsTer?)
c.*253_*257del (n.*253_*257del)
c.364_368del (n.364_368del)
c.745_749del
c.*103_*107del (n.*103_*107del)
c.1634_1638del (p.Glu545GlyfsTer?)
c.521_525del (p.Glu174GlyfsTer?)
c.1616_1620del (p.Glu539GlyfsTer?)
c.1331_1335del (p.Glu444GlyfsTer?)
c.113_117del (p.Glu38GlyfsTer?)
n.483_487del
 gnomAD v4
17g.63486681A>CCA400556270ACEc.2183A>C (p.Glu728Ala)
c.461A>C (p.Glu154Ala)
c.*253A>C (n.*253A>C)
c.364A>C (n.364A>C)
c.745A>C
c.*103A>C (n.*103A>C)
c.1634A>C (p.Glu545Ala)
c.521A>C (p.Glu174Ala)
c.1616A>C (p.Glu539Ala)
c.1331A>C (p.Glu444Ala)
c.113A>C (p.Glu38Ala)
n.483A>C
17g.63486681A>GCA400556273ACEc.2183A>G (p.Glu728Gly)
c.461A>G (p.Glu154Gly)
c.*253A>G (n.*253A>G)
c.364A>G (n.364A>G)
c.745A>G
c.*103A>G (n.*103A>G)
c.1634A>G (p.Glu545Gly)
c.521A>G (p.Glu174Gly)
c.1616A>G (p.Glu539Gly)
c.1331A>G (p.Glu444Gly)
c.113A>G (p.Glu38Gly)
n.483A>G
17g.63486681A>TCA400556275ACEc.2183A>T (p.Glu728Val)
c.461A>T (p.Glu154Val)
c.*253A>T (n.*253A>T)
c.364A>T (n.364A>T)
c.745A>T
c.*103A>T (n.*103A>T)
c.1634A>T (p.Glu545Val)
c.521A>T (p.Glu174Val)
c.1616A>T (p.Glu539Val)
c.1331A>T (p.Glu444Val)
c.113A>T (p.Glu38Val)
n.483A>T
17g.63486682A>CCA400556277ACEc.2184A>C (p.Glu728Asp)
c.462A>C (p.Glu154Asp)
c.*254A>C (n.*254A>C)
c.365A>C (n.365A>C)
c.746A>C
c.*104A>C (n.*104A>C)
c.1635A>C (p.Glu545Asp)
c.522A>C (p.Glu174Asp)
c.1617A>C (p.Glu539Asp)
c.1332A>C (p.Glu444Asp)
c.114A>C (p.Glu38Asp)
n.484A>C
17g.63486682A>GCA501184508ACEc.2184A>G (p.Glu728=)
c.462A>G (p.Glu154=)
c.*254A>G (n.*254A>G)
c.365A>G (n.365A>G)
c.746A>G
c.*104A>G (n.*104A>G)
c.1635A>G (p.Glu545=)
c.522A>G (p.Glu174=)
c.1617A>G (p.Glu539=)
c.1332A>G (p.Glu444=)
c.114A>G (p.Glu38=)
n.484A>G
17g.63486682A>TCA400556279ACEc.2184A>T (p.Glu728Asp)
c.462A>T (p.Glu154Asp)
c.*254A>T (n.*254A>T)
c.365A>T (n.365A>T)
c.746A>T
c.*104A>T (n.*104A>T)
c.1635A>T (p.Glu545Asp)
c.522A>T (p.Glu174Asp)
c.1617A>T (p.Glu539Asp)
c.1332A>T (p.Glu444Asp)
c.114A>T (p.Glu38Asp)
n.484A>T
17g.63486683C>ACA501184512ACEc.2185C>A (p.Arg729=)
c.463C>A (p.Arg155=)
c.*255C>A (n.*255C>A)
c.366C>A (n.366C>A)
c.747C>A
c.*105C>A (n.*105C>A)
c.1636C>A (p.Arg546=)
c.523C>A (p.Arg175=)
c.1618C>A (p.Arg540=)
c.1333C>A (p.Arg445=)
c.115C>A (p.Arg39=)
n.485C>A
 gnomAD v4
17g.63486683C=CA2269944879ACEc.2185C= (p.Arg729=)
c.463C= (p.Arg155=)
c.*255C= (n.*255C=)
c.366C= (n.366C=)
c.747C=
c.*105C= (n.*105C=)
c.1636C= (p.Arg546=)
c.523C= (p.Arg175=)
c.1618C= (p.Arg540=)
c.1333C= (p.Arg445=)
c.115C= (p.Arg39=)
n.485C=
17g.63486683C>GCA400556281ACEc.2185C>G (p.Arg729Gly)
c.463C>G (p.Arg155Gly)
c.*255C>G (n.*255C>G)
c.366C>G (n.366C>G)
c.747C>G
c.*105C>G (n.*105C>G)
c.1636C>G (p.Arg546Gly)
c.523C>G (p.Arg175Gly)
c.1618C>G (p.Arg540Gly)
c.1333C>G (p.Arg445Gly)
c.115C>G (p.Arg39Gly)
n.485C>G
17g.63486683C>TCA8699954ACEc.2185C>T (p.Arg729Trp)
c.463C>T (p.Arg155Trp)
c.*255C>T (n.*255C>T)
c.366C>T (n.366C>T)
c.747C>T
c.*105C>T (n.*105C>T)
c.1636C>T (p.Arg546Trp)
c.523C>T (p.Arg175Trp)
c.1618C>T (p.Arg540Trp)
c.1333C>T (p.Arg445Trp)
c.115C>T (p.Arg39Trp)
n.485C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486684G>ACA8699955ACEc.2186G>A (p.Arg729Gln)
c.464G>A (p.Arg155Gln)
c.*256G>A (n.*256G>A)
c.367G>A (n.367G>A)
c.748G>A
c.*106G>A (n.*106G>A)
c.1637G>A (p.Arg546Gln)
c.524G>A (p.Arg175Gln)
c.1619G>A (p.Arg540Gln)
c.1334G>A (p.Arg445Gln)
c.116G>A (p.Arg39Gln)
n.486G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486684G>CCA400556286ACEc.2186G>C (p.Arg729Pro)
c.464G>C (p.Arg155Pro)
c.*256G>C (n.*256G>C)
c.367G>C (n.367G>C)
c.748G>C
c.*106G>C (n.*106G>C)
c.1637G>C (p.Arg546Pro)
c.524G>C (p.Arg175Pro)
c.1619G>C (p.Arg540Pro)
c.1334G>C (p.Arg445Pro)
c.116G>C (p.Arg39Pro)
n.486G>C
17g.63486684G=CA2269944880ACEc.2186G= (p.Arg729=)
c.464G= (p.Arg155=)
c.*256G= (n.*256G=)
c.367G= (n.367G=)
c.748G=
c.*106G= (n.*106G=)
c.1637G= (p.Arg546=)
c.524G= (p.Arg175=)
c.1619G= (p.Arg540=)
c.1334G= (p.Arg445=)
c.116G= (p.Arg39=)
n.486G=
17g.63486684G>TCA400556289ACEc.2186G>T (p.Arg729Leu)
c.464G>T (p.Arg155Leu)
c.*256G>T (n.*256G>T)
c.367G>T (n.367G>T)
c.748G>T
c.*106G>T (n.*106G>T)
c.1637G>T (p.Arg546Leu)
c.524G>T (p.Arg175Leu)
c.1619G>T (p.Arg540Leu)
c.1334G>T (p.Arg445Leu)
c.116G>T (p.Arg39Leu)
n.486G>T
17g.63486691_63486870delCA2810114346ACEc.2193_2218-116del
c.471_496-116del
c.*263_*288-116del
c.374_399-116del
c.755_780-116del
c.*113_*138-116del
c.1644_1669-116del
c.531_556-116del
c.1626_1651-116del
c.1341_1366-116del
c.123_148-116del
n.493_518-116del
17g.63486685G>ACA501184528ACEc.2187G>A (p.Arg729=)
c.465G>A (p.Arg155=)
c.*257G>A (n.*257G>A)
c.368G>A (n.368G>A)
c.749G>A
c.*107G>A (n.*107G>A)
c.1638G>A (p.Arg546=)
c.525G>A (p.Arg175=)
c.1620G>A (p.Arg540=)
c.1335G>A (p.Arg445=)
c.117G>A (p.Arg39=)
n.487G>A
17g.63486685G>CCA501184524ACEc.2187G>C (p.Arg729=)
c.465G>C (p.Arg155=)
c.*257G>C (n.*257G>C)
c.368G>C (n.368G>C)
c.749G>C
c.*107G>C (n.*107G>C)
c.1638G>C (p.Arg546=)
c.525G>C (p.Arg175=)
c.1620G>C (p.Arg540=)
c.1335G>C (p.Arg445=)
c.117G>C (p.Arg39=)
n.487G>C
17g.63486685G=CA2269944881ACEc.2187G= (p.Arg729=)
c.465G= (p.Arg155=)
c.*257G= (n.*257G=)
c.368G= (n.368G=)
c.749G=
c.*107G= (n.*107G=)
c.1638G= (p.Arg546=)
c.525G= (p.Arg175=)
c.1620G= (p.Arg540=)
c.1335G= (p.Arg445=)
c.117G= (p.Arg39=)
n.487G=
17g.63486685G>TCA8699956ACEc.2187G>T (p.Arg729=)
c.465G>T (p.Arg155=)
c.*257G>T (n.*257G>T)
c.368G>T (n.368G>T)
c.749G>T
c.*107G>T (n.*107G>T)
c.1638G>T (p.Arg546=)
c.525G>T (p.Arg175=)
c.1620G>T (p.Arg540=)
c.1335G>T (p.Arg445=)
c.117G>T (p.Arg39=)
n.487G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486686G>ACA400556298ACEc.2188G>A (p.Ala730Thr)
c.466G>A (p.Ala156Thr)
c.*258G>A (n.*258G>A)
c.369G>A (n.369G>A)
c.750G>A
c.*108G>A (n.*108G>A)
c.1639G>A (p.Ala547Thr)
c.526G>A (p.Ala176Thr)
c.1621G>A (p.Ala541Thr)
c.1336G>A (p.Ala446Thr)
c.118G>A (p.Ala40Thr)
n.488G>A
17g.63486686G>CCA400556294ACEc.2188G>C (p.Ala730Pro)
c.466G>C (p.Ala156Pro)
c.*258G>C (n.*258G>C)
c.369G>C (n.369G>C)
c.750G>C
c.*108G>C (n.*108G>C)
c.1639G>C (p.Ala547Pro)
c.526G>C (p.Ala176Pro)
c.1621G>C (p.Ala541Pro)
c.1336G>C (p.Ala446Pro)
c.118G>C (p.Ala40Pro)
n.488G>C
17g.63486686G=CA2269944882ACEc.2188G= (p.Ala730=)
c.466G= (p.Ala156=)
c.*258G= (n.*258G=)
c.369G= (n.369G=)
c.750G=
c.*108G= (n.*108G=)
c.1639G= (p.Ala547=)
c.526G= (p.Ala176=)
c.1621G= (p.Ala541=)
c.1336G= (p.Ala446=)
c.118G= (p.Ala40=)
n.488G=
17g.63486686G>TCA400556297ACEc.2188G>T (p.Ala730Ser)
c.466G>T (p.Ala156Ser)
c.*258G>T (n.*258G>T)
c.369G>T (n.369G>T)
c.750G>T
c.*108G>T (n.*108G>T)
c.1639G>T (p.Ala547Ser)
c.526G>T (p.Ala176Ser)
c.1621G>T (p.Ala541Ser)
c.1336G>T (p.Ala446Ser)
c.118G>T (p.Ala40Ser)
n.488G>T
 dbSNP
17g.63486687C>ACA8699957ACEc.2189C>A (p.Ala730Glu)
c.467C>A (p.Ala156Glu)
c.*259C>A (n.*259C>A)
c.370C>A (n.370C>A)
c.751C>A
c.*109C>A (n.*109C>A)
c.1640C>A (p.Ala547Glu)
c.527C>A (p.Ala176Glu)
c.1622C>A (p.Ala541Glu)
c.1337C>A (p.Ala446Glu)
c.119C>A (p.Ala40Glu)
n.489C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486687C=CA2269944883ACEc.2189C= (p.Ala730=)
c.467C= (p.Ala156=)
c.*259C= (n.*259C=)
c.370C= (n.370C=)
c.751C=
c.*109C= (n.*109C=)
c.1640C= (p.Ala547=)
c.527C= (p.Ala176=)
c.1622C= (p.Ala541=)
c.1337C= (p.Ala446=)
c.119C= (p.Ala40=)
n.489C=
17g.63486687C>GCA400556304ACEc.2189C>G (p.Ala730Gly)
c.467C>G (p.Ala156Gly)
c.*259C>G (n.*259C>G)
c.370C>G (n.370C>G)
c.751C>G
c.*109C>G (n.*109C>G)
c.1640C>G (p.Ala547Gly)
c.527C>G (p.Ala176Gly)
c.1622C>G (p.Ala541Gly)
c.1337C>G (p.Ala446Gly)
c.119C>G (p.Ala40Gly)
n.489C>G
17g.63486687C>TCA400556306ACEc.2189C>T (p.Ala730Val)
c.467C>T (p.Ala156Val)
c.*259C>T (n.*259C>T)
c.370C>T (n.370C>T)
c.751C>T
c.*109C>T (n.*109C>T)
c.1640C>T (p.Ala547Val)
c.527C>T (p.Ala176Val)
c.1622C>T (p.Ala541Val)
c.1337C>T (p.Ala446Val)
c.119C>T (p.Ala40Val)
n.489C>T
17g.63486688A>CCA501184542ACEc.2190A>C (p.Ala730=)
c.468A>C (p.Ala156=)
c.*260A>C (n.*260A>C)
c.371A>C (n.371A>C)
c.752A>C
c.*110A>C (n.*110A>C)
c.1641A>C (p.Ala547=)
c.528A>C (p.Ala176=)
c.1623A>C (p.Ala541=)
c.1338A>C (p.Ala446=)
c.120A>C (p.Ala40=)
n.490A>C
17g.63486688A>GCA501184546ACEc.2190A>G (p.Ala730=)
c.468A>G (p.Ala156=)
c.*260A>G (n.*260A>G)
c.371A>G (n.371A>G)
c.752A>G
c.*110A>G (n.*110A>G)
c.1641A>G (p.Ala547=)
c.528A>G (p.Ala176=)
c.1623A>G (p.Ala541=)
c.1338A>G (p.Ala446=)
c.120A>G (p.Ala40=)
n.490A>G
17g.63486688A>TCA501184548ACEc.2190A>T (p.Ala730=)
c.468A>T (p.Ala156=)
c.*260A>T (n.*260A>T)
c.371A>T (n.371A>T)
c.752A>T
c.*110A>T (n.*110A>T)
c.1641A>T (p.Ala547=)
c.528A>T (p.Ala176=)
c.1623A>T (p.Ala541=)
c.1338A>T (p.Ala446=)
c.120A>T (p.Ala40=)
n.490A>T
17g.63486689G>ACA400556314ACEc.2191G>A (p.Ala731Thr)
c.469G>A (p.Ala157Thr)
c.*261G>A (n.*261G>A)
c.372G>A (n.372G>A)
c.753G>A
c.*111G>A (n.*111G>A)
c.1642G>A (p.Ala548Thr)
c.529G>A (p.Ala177Thr)
c.1624G>A (p.Ala542Thr)
c.1339G>A (p.Ala447Thr)
c.121G>A (p.Ala41Thr)
n.491G>A
17g.63486689G>CCA400556312ACEc.2191G>C (p.Ala731Pro)
c.469G>C (p.Ala157Pro)
c.*261G>C (n.*261G>C)
c.372G>C (n.372G>C)
c.753G>C
c.*111G>C (n.*111G>C)
c.1642G>C (p.Ala548Pro)
c.529G>C (p.Ala177Pro)
c.1624G>C (p.Ala542Pro)
c.1339G>C (p.Ala447Pro)
c.121G>C (p.Ala41Pro)
n.491G>C
17g.63486689G>TCA400556310ACEc.2191G>T (p.Ala731Ser)
c.469G>T (p.Ala157Ser)
c.*261G>T (n.*261G>T)
c.372G>T (n.372G>T)
c.753G>T
c.*111G>T (n.*111G>T)
c.1642G>T (p.Ala548Ser)
c.529G>T (p.Ala177Ser)
c.1624G>T (p.Ala542Ser)
c.1339G>T (p.Ala447Ser)
c.121G>T (p.Ala41Ser)
n.491G>T
17g.63486690C>ACA400556317ACEc.2192C>A (p.Ala731Glu)
c.470C>A (p.Ala157Glu)
c.*262C>A (n.*262C>A)
c.373C>A (n.373C>A)
c.754C>A
c.*112C>A (n.*112C>A)
c.1643C>A (p.Ala548Glu)
c.530C>A (p.Ala177Glu)
c.1625C>A (p.Ala542Glu)
c.1340C>A (p.Ala447Glu)
c.122C>A (p.Ala41Glu)
n.492C>A
17g.63486690C=CA2269944884ACEc.2192C= (p.Ala731=)
c.470C= (p.Ala157=)
c.*262C= (n.*262C=)
c.373C= (n.373C=)
c.754C=
c.*112C= (n.*112C=)
c.1643C= (p.Ala548=)
c.530C= (p.Ala177=)
c.1625C= (p.Ala542=)
c.1340C= (p.Ala447=)
c.122C= (p.Ala41=)
n.492C=
17g.63486690C>GCA400556319ACEc.2192C>G (p.Ala731Gly)
c.470C>G (p.Ala157Gly)
c.*262C>G (n.*262C>G)
c.373C>G (n.373C>G)
c.754C>G
c.*112C>G (n.*112C>G)
c.1643C>G (p.Ala548Gly)
c.530C>G (p.Ala177Gly)
c.1625C>G (p.Ala542Gly)
c.1340C>G (p.Ala447Gly)
c.122C>G (p.Ala41Gly)
n.492C>G
17g.63486690C>TCA400556321ACEc.2192C>T (p.Ala731Val)
c.470C>T (p.Ala157Val)
c.*262C>T (n.*262C>T)
c.373C>T (n.373C>T)
c.754C>T
c.*112C>T (n.*112C>T)
c.1643C>T (p.Ala548Val)
c.530C>T (p.Ala177Val)
c.1625C>T (p.Ala542Val)
c.1340C>T (p.Ala447Val)
c.122C>T (p.Ala41Val)
n.492C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63486690_63486691delinsTGCA891863073ACEc.2192_2193delinsTG (p.Ala731Val)
c.470_471delinsTG (p.Ala157Val)
c.*262_*263delinsTG (n.*262_*263delinsTG)
c.373_374delinsTG (n.373_374delinsTG)
c.754_755delinsTG
c.*112_*113delinsTG (n.*112_*113delinsTG)
c.1643_1644delinsTG (p.Ala548Val)
c.530_531delinsTG (p.Ala177Val)
c.1625_1626delinsTG (p.Ala542Val)
c.1340_1341delinsTG (p.Ala447Val)
c.122_123delinsTG (p.Ala41Val)
n.492_493delinsTG
 ClinVar
17g.63486691A=CA2269944885ACEc.2193A= (p.Ala731=)
c.471A= (p.Ala157=)
c.*263A= (n.*263A=)
c.374A= (n.374A=)
c.755A=
c.*113A= (n.*113A=)
c.1644A= (p.Ala548=)
c.531A= (p.Ala177=)
c.1626A= (p.Ala542=)
c.1341A= (p.Ala447=)
c.123A= (p.Ala41=)
n.493A=
17g.63486691A>CCA501184563ACEc.2193A>C (p.Ala731=)
c.471A>C (p.Ala157=)
c.*263A>C (n.*263A>C)
c.374A>C (n.374A>C)
c.755A>C
c.*113A>C (n.*113A>C)
c.1644A>C (p.Ala548=)
c.531A>C (p.Ala177=)
c.1626A>C (p.Ala542=)
c.1341A>C (p.Ala447=)
c.123A>C (p.Ala41=)
n.493A>C
 dbSNP
17g.63486691A>GCA8699958ACEc.2193A>G (p.Ala731=)
c.471A>G (p.Ala157=)
c.*263A>G (n.*263A>G)
c.374A>G (n.374A>G)
c.755A>G
c.*113A>G (n.*113A>G)
c.1644A>G (p.Ala548=)
c.531A>G (p.Ala177=)
c.1626A>G (p.Ala542=)
c.1341A>G (p.Ala447=)
c.123A>G (p.Ala41=)
n.493A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486691A>TCA501184567ACEc.2193A>T (p.Ala731=)
c.471A>T (p.Ala157=)
c.*263A>T (n.*263A>T)
c.374A>T (n.374A>T)
c.755A>T
c.*113A>T (n.*113A>T)
c.1644A>T (p.Ala548=)
c.531A>T (p.Ala177=)
c.1626A>T (p.Ala542=)
c.1341A>T (p.Ala447=)
c.123A>T (p.Ala41=)
n.493A>T
 dbSNP gnomAD v3 gnomAD v4
17g.63486692C>ACA400556326ACEc.2194C>A (p.Leu732Met)
c.472C>A (p.Leu158Met)
c.*264C>A (n.*264C>A)
c.375C>A (n.375C>A)
c.756C>A
c.*114C>A (n.*114C>A)
c.1645C>A (p.Leu549Met)
c.532C>A (p.Leu178Met)
c.1627C>A (p.Leu543Met)
c.1342C>A (p.Leu448Met)
c.124C>A (p.Leu42Met)
n.494C>A
17g.63486692C=CA2269944886ACEc.2194C= (p.Leu732=)
c.472C= (p.Leu158=)
c.*264C= (n.*264C=)
c.375C= (n.375C=)
c.756C=
c.*114C= (n.*114C=)
c.1645C= (p.Leu549=)
c.532C= (p.Leu178=)
c.1627C= (p.Leu543=)
c.1342C= (p.Leu448=)
c.124C= (p.Leu42=)
n.494C=
17g.63486692C>GCA400556328ACEc.2194C>G (p.Leu732Val)
c.472C>G (p.Leu158Val)
c.*264C>G (n.*264C>G)
c.375C>G (n.375C>G)
c.756C>G
c.*114C>G (n.*114C>G)
c.1645C>G (p.Leu549Val)
c.532C>G (p.Leu178Val)
c.1627C>G (p.Leu543Val)
c.1342C>G (p.Leu448Val)
c.124C>G (p.Leu42Val)
n.494C>G
17g.63486692C>TCA501184578ACEc.2194C>T (p.Leu732=)
c.472C>T (p.Leu158=)
c.*264C>T (n.*264C>T)
c.375C>T (n.375C>T)
c.756C>T
c.*114C>T (n.*114C>T)
c.1645C>T (p.Leu549=)
c.532C>T (p.Leu178=)
c.1627C>T (p.Leu543=)
c.1342C>T (p.Leu448=)
c.124C>T (p.Leu42=)
n.494C>T
 dbSNP gnomAD v2 gnomAD v4
17g.63486693T>ACA400556331ACEc.2195T>A (p.Leu732Gln)
c.473T>A (p.Leu158Gln)
c.*265T>A (n.*265T>A)
c.376T>A (n.376T>A)
c.757T>A
c.*115T>A (n.*115T>A)
c.1646T>A (p.Leu549Gln)
c.533T>A (p.Leu178Gln)
c.1628T>A (p.Leu543Gln)
c.1343T>A (p.Leu448Gln)
c.125T>A (p.Leu42Gln)
n.495T>A
17g.63486693T>CCA400556335ACEc.2195T>C (p.Leu732Pro)
c.473T>C (p.Leu158Pro)
c.*265T>C (n.*265T>C)
c.376T>C (n.376T>C)
c.757T>C
c.*115T>C (n.*115T>C)
c.1646T>C (p.Leu549Pro)
c.533T>C (p.Leu178Pro)
c.1628T>C (p.Leu543Pro)
c.1343T>C (p.Leu448Pro)
c.125T>C (p.Leu42Pro)
n.495T>C
17g.63486693T>GCA400556333ACEc.2195T>G (p.Leu732Arg)
c.473T>G (p.Leu158Arg)
c.*265T>G (n.*265T>G)
c.376T>G (n.376T>G)
c.757T>G
c.*115T>G (n.*115T>G)
c.1646T>G (p.Leu549Arg)
c.533T>G (p.Leu178Arg)
c.1628T>G (p.Leu543Arg)
c.1343T>G (p.Leu448Arg)
c.125T>G (p.Leu42Arg)
n.495T>G
17g.63486694G>ACA501184583ACEc.2196G>A (p.Leu732=)
c.474G>A (p.Leu158=)
c.*266G>A (n.*266G>A)
c.377G>A (n.377G>A)
c.758G>A
c.*116G>A (n.*116G>A)
c.1647G>A (p.Leu549=)
c.534G>A (p.Leu178=)
c.1629G>A (p.Leu543=)
c.1344G>A (p.Leu448=)
c.126G>A (p.Leu42=)
n.496G>A
 gnomAD v4
17g.63486694G>CCA8699959ACEc.2196G>C (p.Leu732=)
c.474G>C (p.Leu158=)
c.*266G>C (n.*266G>C)
c.377G>C (n.377G>C)
c.758G>C
c.*116G>C (n.*116G>C)
c.1647G>C (p.Leu549=)
c.534G>C (p.Leu178=)
c.1629G>C (p.Leu543=)
c.1344G>C (p.Leu448=)
c.126G>C (p.Leu42=)
n.496G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486694G=CA2269944887ACEc.2196G= (p.Leu732=)
c.474G= (p.Leu158=)
c.*266G= (n.*266G=)
c.377G= (n.377G=)
c.758G=
c.*116G= (n.*116G=)
c.1647G= (p.Leu549=)
c.534G= (p.Leu178=)
c.1629G= (p.Leu543=)
c.1344G= (p.Leu448=)
c.126G= (p.Leu42=)
n.496G=
17g.63486694G>TCA501184586ACEc.2196G>T (p.Leu732=)
c.474G>T (p.Leu158=)
c.*266G>T (n.*266G>T)
c.377G>T (n.377G>T)
c.758G>T
c.*116G>T (n.*116G>T)
c.1647G>T (p.Leu549=)
c.534G>T (p.Leu178=)
c.1629G>T (p.Leu543=)
c.1344G>T (p.Leu448=)
c.126G>T (p.Leu42=)
n.496G>T
17g.63486695C>ACA400556340ACEc.2197C>A (p.Pro733Thr)
c.475C>A (p.Pro159Thr)
c.*267C>A (n.*267C>A)
c.378C>A (n.378C>A)
c.759C>A
c.*117C>A (n.*117C>A)
c.1648C>A (p.Pro550Thr)
c.535C>A (p.Pro179Thr)
c.1630C>A (p.Pro544Thr)
c.1345C>A (p.Pro449Thr)
c.127C>A (p.Pro43Thr)
n.497C>A
17g.63486695C>GCA400556342ACEc.2197C>G (p.Pro733Ala)
c.475C>G (p.Pro159Ala)
c.*267C>G (n.*267C>G)
c.378C>G (n.378C>G)
c.759C>G
c.*117C>G (n.*117C>G)
c.1648C>G (p.Pro550Ala)
c.535C>G (p.Pro179Ala)
c.1630C>G (p.Pro544Ala)
c.1345C>G (p.Pro449Ala)
c.127C>G (p.Pro43Ala)
n.497C>G
17g.63486695C>TCA400556345ACEc.2197C>T (p.Pro733Ser)
c.475C>T (p.Pro159Ser)
c.*267C>T (n.*267C>T)
c.378C>T (n.378C>T)
c.759C>T
c.*117C>T (n.*117C>T)
c.1648C>T (p.Pro550Ser)
c.535C>T (p.Pro179Ser)
c.1630C>T (p.Pro544Ser)
c.1345C>T (p.Pro449Ser)
c.127C>T (p.Pro43Ser)
n.497C>T
17g.63486696C>ACA400556348ACEc.2198C>A (p.Pro733His)
c.476C>A (p.Pro159His)
c.*268C>A (n.*268C>A)
c.379C>A (n.379C>A)
c.760C>A
c.*118C>A (n.*118C>A)
c.1649C>A (p.Pro550His)
c.536C>A (p.Pro179His)
c.1631C>A (p.Pro544His)
c.1346C>A (p.Pro449His)
c.128C>A (p.Pro43His)
n.498C>A
17g.63486696C=CA2269944888ACEc.2198C= (p.Pro733=)
c.476C= (p.Pro159=)
c.*268C= (n.*268C=)
c.379C= (n.379C=)
c.760C=
c.*118C= (n.*118C=)
c.1649C= (p.Pro550=)
c.536C= (p.Pro179=)
c.1631C= (p.Pro544=)
c.1346C= (p.Pro449=)
c.128C= (p.Pro43=)
n.498C=
17g.63486696C>GCA400556350ACEc.2198C>G (p.Pro733Arg)
c.476C>G (p.Pro159Arg)
c.*268C>G (n.*268C>G)
c.379C>G (n.379C>G)
c.760C>G
c.*118C>G (n.*118C>G)
c.1649C>G (p.Pro550Arg)
c.536C>G (p.Pro179Arg)
c.1631C>G (p.Pro544Arg)
c.1346C>G (p.Pro449Arg)
c.128C>G (p.Pro43Arg)
n.498C>G
17g.63486696C>TCA400556352ACEc.2198C>T (p.Pro733Leu)
c.476C>T (p.Pro159Leu)
c.*268C>T (n.*268C>T)
c.379C>T (n.379C>T)
c.760C>T
c.*118C>T (n.*118C>T)
c.1649C>T (p.Pro550Leu)
c.536C>T (p.Pro179Leu)
c.1631C>T (p.Pro544Leu)
c.1346C>T (p.Pro449Leu)
c.128C>T (p.Pro43Leu)
n.498C>T
 dbSNP gnomAD v4
17g.63486697T>ACA501184599ACEc.2199T>A (p.Pro733=)
c.477T>A (p.Pro159=)
c.*269T>A (n.*269T>A)
c.380T>A (n.380T>A)
c.761T>A
c.*119T>A (n.*119T>A)
c.1650T>A (p.Pro550=)
c.537T>A (p.Pro179=)
c.1632T>A (p.Pro544=)
c.1347T>A (p.Pro449=)
c.129T>A (p.Pro43=)
n.499T>A
17g.63486697T>CCA501184601ACEc.2199T>C (p.Pro733=)
c.477T>C (p.Pro159=)
c.*269T>C (n.*269T>C)
c.380T>C (n.380T>C)
c.761T>C
c.*119T>C (n.*119T>C)
c.1650T>C (p.Pro550=)
c.537T>C (p.Pro179=)
c.1632T>C (p.Pro544=)
c.1347T>C (p.Pro449=)
c.129T>C (p.Pro43=)
n.499T>C
 gnomAD v4
17g.63486697T>GCA501184602ACEc.2199T>G (p.Pro733=)
c.477T>G (p.Pro159=)
c.*269T>G (n.*269T>G)
c.380T>G (n.380T>G)
c.761T>G
c.*119T>G (n.*119T>G)
c.1650T>G (p.Pro550=)
c.537T>G (p.Pro179=)
c.1632T>G (p.Pro544=)
c.1347T>G (p.Pro449=)
c.129T>G (p.Pro43=)
n.499T>G
 dbSNP
17g.63486698G>ACA400556354ACEc.2200G>A (p.Ala734Thr)
c.478G>A (p.Ala160Thr)
c.*270G>A (n.*270G>A)
c.381G>A (n.381G>A)
c.762G>A
c.*120G>A (n.*120G>A)
c.1651G>A (p.Ala551Thr)
c.538G>A (p.Ala180Thr)
c.1633G>A (p.Ala545Thr)
c.1348G>A (p.Ala450Thr)
c.130G>A (p.Ala44Thr)
n.500G>A
17g.63486698G>CCA400556355ACEc.2200G>C (p.Ala734Pro)
c.478G>C (p.Ala160Pro)
c.*270G>C (n.*270G>C)
c.381G>C (n.381G>C)
c.762G>C
c.*120G>C (n.*120G>C)
c.1651G>C (p.Ala551Pro)
c.538G>C (p.Ala180Pro)
c.1633G>C (p.Ala545Pro)
c.1348G>C (p.Ala450Pro)
c.130G>C (p.Ala44Pro)
n.500G>C
17g.63486698G=CA2269944889ACEc.2200G= (p.Ala734=)
c.478G= (p.Ala160=)
c.*270G= (n.*270G=)
c.381G= (n.381G=)
c.762G=
c.*120G= (n.*120G=)
c.1651G= (p.Ala551=)
c.538G= (p.Ala180=)
c.1633G= (p.Ala545=)
c.1348G= (p.Ala450=)
c.130G= (p.Ala44=)
n.500G=
17g.63486698G>TCA8699960ACEc.2200G>T (p.Ala734Ser)
c.478G>T (p.Ala160Ser)
c.*270G>T (n.*270G>T)
c.381G>T (n.381G>T)
c.762G>T
c.*120G>T (n.*120G>T)
c.1651G>T (p.Ala551Ser)
c.538G>T (p.Ala180Ser)
c.1633G>T (p.Ala545Ser)
c.1348G>T (p.Ala450Ser)
c.130G>T (p.Ala44Ser)
n.500G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63486699C>ACA400556358ACEc.2201C>A (p.Ala734Asp)
c.479C>A (p.Ala160Asp)
c.*271C>A (n.*271C>A)
c.382C>A (n.382C>A)
c.763C>A
c.*121C>A (n.*121C>A)
c.1652C>A (p.Ala551Asp)
c.539C>A (p.Ala180Asp)
c.1634C>A (p.Ala545Asp)
c.1349C>A (p.Ala450Asp)
c.131C>A (p.Ala44Asp)
n.501C>A
17g.63486699C>GCA400556357ACEc.2201C>G (p.Ala734Gly)
c.479C>G (p.Ala160Gly)
c.*271C>G (n.*271C>G)
c.382C>G (n.382C>G)
c.763C>G
c.*121C>G (n.*121C>G)
c.1652C>G (p.Ala551Gly)
c.539C>G (p.Ala180Gly)
c.1634C>G (p.Ala545Gly)
c.1349C>G (p.Ala450Gly)
c.131C>G (p.Ala44Gly)
n.501C>G
17g.63486699C>TCA400556356ACEc.2201C>T (p.Ala734Val)
c.479C>T (p.Ala160Val)
c.*271C>T (n.*271C>T)
c.382C>T (n.382C>T)
c.763C>T
c.*121C>T (n.*121C>T)
c.1652C>T (p.Ala551Val)
c.539C>T (p.Ala180Val)
c.1634C>T (p.Ala545Val)
c.1349C>T (p.Ala450Val)
c.131C>T (p.Ala44Val)
n.501C>T
 gnomAD v4
17g.63486700C>ACA501184617ACEc.2202C>A (p.Ala734=)
c.480C>A (p.Ala160=)
c.*272C>A (n.*272C>A)
c.383C>A (n.383C>A)
c.764C>A
c.*122C>A (n.*122C>A)
c.1653C>A (p.Ala551=)
c.540C>A (p.Ala180=)
c.1635C>A (p.Ala545=)
c.1350C>A (p.Ala450=)
c.132C>A (p.Ala44=)
n.502C>A
17g.63486700C>GCA501184620ACEc.2202C>G (p.Ala734=)
c.480C>G (p.Ala160=)
c.*272C>G (n.*272C>G)
c.383C>G (n.383C>G)
c.764C>G
c.*122C>G (n.*122C>G)
c.1653C>G (p.Ala551=)
c.540C>G (p.Ala180=)
c.1635C>G (p.Ala545=)
c.1350C>G (p.Ala450=)
c.132C>G (p.Ala44=)
n.502C>G
17g.63486700C>TCA501184622ACEc.2202C>T (p.Ala734=)
c.480C>T (p.Ala160=)
c.*272C>T (n.*272C>T)
c.383C>T (n.383C>T)
c.764C>T
c.*122C>T (n.*122C>T)
c.1653C>T (p.Ala551=)
c.540C>T (p.Ala180=)
c.1635C>T (p.Ala545=)
c.1350C>T (p.Ala450=)
c.132C>T (p.Ala44=)
n.502C>T
17g.63486701C>ACA400556359ACEc.2203C>A (p.Gln735Lys)
c.481C>A (p.Gln161Lys)
c.*273C>A (n.*273C>A)
c.384C>A (n.384C>A)
c.765C>A
c.*123C>A (n.*123C>A)
c.1654C>A (p.Gln552Lys)
c.541C>A (p.Gln181Lys)
c.1636C>A (p.Gln546Lys)
c.1351C>A (p.Gln451Lys)
c.133C>A (p.Gln45Lys)
n.503C>A
17g.63486701C=CA2269944890ACEc.2203C= (p.Gln735=)
c.481C= (p.Gln161=)
c.*273C= (n.*273C=)
c.384C= (n.384C=)
c.765C=
c.*123C= (n.*123C=)
c.1654C= (p.Gln552=)
c.541C= (p.Gln181=)
c.1636C= (p.Gln546=)
c.1351C= (p.Gln451=)
c.133C= (p.Gln45=)
n.503C=
17g.63486701C>GCA400556360ACEc.2203C>G (p.Gln735Glu)
c.481C>G (p.Gln161Glu)
c.*273C>G (n.*273C>G)
c.384C>G (n.384C>G)
c.765C>G
c.*123C>G (n.*123C>G)
c.1654C>G (p.Gln552Glu)
c.541C>G (p.Gln181Glu)
c.1636C>G (p.Gln546Glu)
c.1351C>G (p.Gln451Glu)
c.133C>G (p.Gln45Glu)
n.503C>G
17g.63486701C>TCA292881577ACEc.2203C>T (p.Gln735Ter)
c.481C>T (p.Gln161Ter)
c.*273C>T (n.*273C>T)
c.384C>T (n.384C>T)
c.765C>T
c.*123C>T (n.*123C>T)
c.1654C>T (p.Gln552Ter)
c.541C>T (p.Gln181Ter)
c.1636C>T (p.Gln546Ter)
c.1351C>T (p.Gln451Ter)
c.133C>T (p.Gln45Ter)
n.503C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63486702A>CCA400556361ACEc.2204A>C (p.Gln735Pro)
c.482A>C (p.Gln161Pro)
c.*274A>C (n.*274A>C)
c.385A>C (n.385A>C)
c.766A>C
c.*124A>C (n.*124A>C)
c.1655A>C (p.Gln552Pro)
c.542A>C (p.Gln181Pro)
c.1637A>C (p.Gln546Pro)
c.1352A>C (p.Gln451Pro)
c.134A>C (p.Gln45Pro)
n.504A>C
17g.63486702A>GCA400556362ACEc.2204A>G (p.Gln735Arg)
c.482A>G (p.Gln161Arg)
c.*274A>G (n.*274A>G)
c.385A>G (n.385A>G)
c.766A>G
c.*124A>G (n.*124A>G)
c.1655A>G (p.Gln552Arg)
c.542A>G (p.Gln181Arg)
c.1637A>G (p.Gln546Arg)
c.1352A>G (p.Gln451Arg)
c.134A>G (p.Gln45Arg)
n.504A>G
 gnomAD v4
17g.63486702A>TCA400556363ACEc.2204A>T (p.Gln735Leu)
c.482A>T (p.Gln161Leu)
c.*274A>T (n.*274A>T)
c.385A>T (n.385A>T)
c.766A>T
c.*124A>T (n.*124A>T)
c.1655A>T (p.Gln552Leu)
c.542A>T (p.Gln181Leu)
c.1637A>T (p.Gln546Leu)
c.1352A>T (p.Gln451Leu)
c.134A>T (p.Gln45Leu)
n.504A>T
17g.63486703G>ACA501184638ACEc.2205G>A (p.Gln735=)
c.483G>A (p.Gln161=)
c.*275G>A (n.*275G>A)
c.386G>A (n.386G>A)
c.767G>A
c.*125G>A (n.*125G>A)
c.1656G>A (p.Gln552=)
c.543G>A (p.Gln181=)
c.1638G>A (p.Gln546=)
c.1353G>A (p.Gln451=)
c.135G>A (p.Gln45=)
n.505G>A
17g.63486703G>CCA400556364ACEc.2205G>C (p.Gln735His)
c.483G>C (p.Gln161His)
c.*275G>C (n.*275G>C)
c.386G>C (n.386G>C)
c.767G>C
c.*125G>C (n.*125G>C)
c.1656G>C (p.Gln552His)
c.543G>C (p.Gln181His)
c.1638G>C (p.Gln546His)
c.1353G>C (p.Gln451His)
c.135G>C (p.Gln45His)
n.505G>C
17g.63486703G>TCA400556365ACEc.2205G>T (p.Gln735His)
c.483G>T (p.Gln161His)
c.*275G>T (n.*275G>T)
c.386G>T (n.386G>T)
c.767G>T
c.*125G>T (n.*125G>T)
c.1656G>T (p.Gln552His)
c.543G>T (p.Gln181His)
c.1638G>T (p.Gln546His)
c.1353G>T (p.Gln451His)
c.135G>T (p.Gln45His)
n.505G>T
17g.63486704G>ACA400556366ACEc.2206G>A (p.Glu736Lys)
c.484G>A (p.Glu162Lys)
c.*276G>A (n.*276G>A)
c.387G>A (n.387G>A)
c.768G>A
c.*126G>A (n.*126G>A)
c.1657G>A (p.Glu553Lys)
c.544G>A (p.Glu182Lys)
c.1639G>A (p.Glu547Lys)
c.1354G>A (p.Glu452Lys)
c.136G>A (p.Glu46Lys)
n.506G>A
 gnomAD v4
17g.63486704G>CCA400556367ACEc.2206G>C (p.Glu736Gln)
c.484G>C (p.Glu162Gln)
c.*276G>C (n.*276G>C)
c.387G>C (n.387G>C)
c.768G>C
c.*126G>C (n.*126G>C)
c.1657G>C (p.Glu553Gln)
c.544G>C (p.Glu182Gln)
c.1639G>C (p.Glu547Gln)
c.1354G>C (p.Glu452Gln)
c.136G>C (p.Glu46Gln)
n.506G>C
17g.63486704G>TCA400556368ACEc.2206G>T (p.Glu736Ter)
c.484G>T (p.Glu162Ter)
c.*276G>T (n.*276G>T)
c.387G>T (n.387G>T)
c.768G>T
c.*126G>T (n.*126G>T)
c.1657G>T (p.Glu553Ter)
c.544G>T (p.Glu182Ter)
c.1639G>T (p.Glu547Ter)
c.1354G>T (p.Glu452Ter)
c.136G>T (p.Glu46Ter)
n.506G>T

Number of alleles fetched