Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.58273466_58273480delinsGGGGTTGGGTTCCATCA2267631262MPOn.888_902delinsATGGAACCCAACCCC
c.680_694delinsATGGAACCCAACCCC (n.680_694delinsATGGAACCCAACCCC)
n.595_609delinsATGGAACCCAACCCC
c.1555_1569delinsATGGAACCCAACCCC (p.Met519=)
c.13_27delinsATGGAACCCAACCCC (p.Met5=)
c.1741_1755delinsATGGAACCCAACCCC (p.Met581=)
c.1270_1284delinsATGGAACCCAACCCC (p.Met424=)
c.*104_*118delinsATGGAACCCAACCCC (n.*104_*118delinsATGGAACCCAACCCC)
17g.58273470_58273483dupCA773505924MPOn.888_901dup
c.680_693dup (n.680_693dup)
n.595_608dup
c.1555_1568dup (p.Arg524TrpfsTer?)
c.13_26dup (p.Arg10TrpfsTer?)
c.1741_1754dup (p.Arg586TrpfsTer?)
c.1270_1283dup (p.Arg429TrpfsTer?)
c.*104_*117dup (n.*104_*117dup)
 dbSNP
17g.58273470_58273483delCA212809MPOn.888_901del
c.680_693del (n.680_693del)
n.595_608del
c.1555_1568del (p.Met519ProfsTer21)
c.13_26del (p.Met5ProfsTer21)
c.1741_1754del (p.Met581ProfsTer21)
c.1270_1283del (p.Met424ProfsTer21)
c.*104_*117del (n.*104_*117del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273479A=CA2267631270MPOn.889T=
c.681T= (n.681T=)
n.596T=
c.1556T= (p.Met519=)
c.14T= (p.Met5=)
c.1742T= (p.Met581=)
c.1271T= (p.Met424=)
c.*105T= (n.*105T=)
17g.58273479A>CCA400369870MPOn.889T>G
c.681T>G (n.681T>G)
n.596T>G
c.1556T>G (p.Met519Arg)
c.14T>G (p.Met5Arg)
c.1742T>G (p.Met581Arg)
c.1271T>G (p.Met424Arg)
c.*105T>G (n.*105T>G)
17g.58273479A>GCA400369871MPOn.889T>C
c.681T>C (n.681T>C)
n.596T>C
c.1556T>C (p.Met519Thr)
c.14T>C (p.Met5Thr)
c.1742T>C (p.Met581Thr)
c.1271T>C (p.Met424Thr)
c.*105T>C (n.*105T>C)
 dbSNP
17g.58273479A>TCA400369873MPOn.889T>A
c.681T>A (n.681T>A)
n.596T>A
c.1556T>A (p.Met519Lys)
c.14T>A (p.Met5Lys)
c.1742T>A (p.Met581Lys)
c.1271T>A (p.Met424Lys)
c.*105T>A (n.*105T>A)
17g.58273480T>ACA400369875MPOn.888A>T
c.680A>T (n.680A>T)
n.595A>T
c.1555A>T (p.Met519Leu)
c.13A>T (p.Met5Leu)
c.1741A>T (p.Met581Leu)
c.1270A>T (p.Met424Leu)
c.*104A>T (n.*104A>T)
17g.58273480T>CCA8670599MPOn.888A>G
c.680A>G (n.680A>G)
n.595A>G
c.1555A>G (p.Met519Val)
c.13A>G (p.Met5Val)
c.1741A>G (p.Met581Val)
c.1270A>G (p.Met424Val)
c.*104A>G (n.*104A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273480T>GCA400369877MPOn.888A>C
c.680A>C (n.680A>C)
n.595A>C
c.1555A>C (p.Met519Leu)
c.13A>C (p.Met5Leu)
c.1741A>C (p.Met581Leu)
c.1270A>C (p.Met424Leu)
c.*104A>C (n.*104A>C)
17g.58273480T=CA2267631271MPOn.888A=
c.680A= (n.680A=)
n.595A=
c.1555A= (p.Met519=)
c.13A= (p.Met5=)
c.1741A= (p.Met581=)
c.1270A= (p.Met424=)
c.*104A= (n.*104A=)
17g.58273480_58273481delinsTGCA2267631272MPOn.887_888delinsCA
c.679_680delinsCA (n.679_680delinsCA)
n.594_595delinsCA
c.1554_1555delinsCA (p.Pro518=)
c.12_13delinsCA (p.Pro4=)
c.1740_1741delinsCA (p.Pro580=)
c.1269_1270delinsCA (p.Pro423=)
c.*103_*104delinsCA (n.*103_*104delinsCA)
17g.58273481G>ACA501022434MPOn.887C>T
c.679C>T (n.679C>T)
n.594C>T
c.1554C>T (p.Pro518=)
c.12C>T (p.Pro4=)
c.1740C>T (p.Pro580=)
c.1269C>T (p.Pro423=)
c.*103C>T (n.*103C>T)
 dbSNP
17g.58273481G>CCA501022429MPOn.887C>G
c.679C>G (n.679C>G)
n.594C>G
c.1554C>G (p.Pro518=)
c.12C>G (p.Pro4=)
c.1740C>G (p.Pro580=)
c.1269C>G (p.Pro423=)
c.*103C>G (n.*103C>G)
17g.58273481G=CA2267631273MPOn.887C=
c.679C= (n.679C=)
n.594C=
c.1554C= (p.Pro518=)
c.12C= (p.Pro4=)
c.1740C= (p.Pro580=)
c.1269C= (p.Pro423=)
c.*103C= (n.*103C=)
17g.58273481G>TCA501022424MPOn.887C>A
c.679C>A (n.679C>A)
n.594C>A
c.1554C>A (p.Pro518=)
c.12C>A (p.Pro4=)
c.1740C>A (p.Pro580=)
c.1269C>A (p.Pro423=)
c.*103C>A (n.*103C>A)
17g.58273483delCA627143469MPOn.887del
c.679del (n.679del)
n.594del
c.1554del (p.Met519TrpfsTer?)
c.12del (p.Met5TrpfsTer?)
c.1740del (p.Met581TrpfsTer?)
c.1269del (p.Met424TrpfsTer?)
c.*103del (n.*103del)
 dbSNP gnomAD v2
17g.58273482G>ACA400369880MPOn.886C>T
c.678C>T (n.678C>T)
n.593C>T
c.1553C>T (p.Pro518Leu)
c.11C>T (p.Pro4Leu)
c.1739C>T (p.Pro580Leu)
c.1268C>T (p.Pro423Leu)
c.*102C>T (n.*102C>T)
17g.58273482G>CCA400369882MPOn.886C>G
c.678C>G (n.678C>G)
n.593C>G
c.1553C>G (p.Pro518Arg)
c.11C>G (p.Pro4Arg)
c.1739C>G (p.Pro580Arg)
c.1268C>G (p.Pro423Arg)
c.*102C>G (n.*102C>G)
17g.58273482G>TCA400369884MPOn.886C>A
c.678C>A (n.678C>A)
n.593C>A
c.1553C>A (p.Pro518His)
c.11C>A (p.Pro4His)
c.1739C>A (p.Pro580His)
c.1268C>A (p.Pro423His)
c.*102C>A (n.*102C>A)
17g.58273483G>ACA400369886MPOn.885C>T
c.677C>T (n.677C>T)
n.592C>T
c.1552C>T (p.Pro518Ser)
c.10C>T (p.Pro4Ser)
c.1738C>T (p.Pro580Ser)
c.1267C>T (p.Pro423Ser)
c.*101C>T (n.*101C>T)
17g.58273483G>CCA400369889MPOn.885C>G
c.677C>G (n.677C>G)
n.592C>G
c.1552C>G (p.Pro518Ala)
c.10C>G (p.Pro4Ala)
c.1738C>G (p.Pro580Ala)
c.1267C>G (p.Pro423Ala)
c.*101C>G (n.*101C>G)
17g.58273483G>TCA400369890MPOn.885C>A
c.677C>A (n.677C>A)
n.592C>A
c.1552C>A (p.Pro518Thr)
c.10C>A (p.Pro4Thr)
c.1738C>A (p.Pro580Thr)
c.1267C>A (p.Pro423Thr)
c.*101C>A (n.*101C>A)
17g.58273484C>ACA400369894MPOn.884G>T
c.676G>T (n.676G>T)
n.591G>T
c.1551G>T (p.Gln517His)
c.9G>T (p.Gln3His)
c.1737G>T (p.Gln579His)
c.1266G>T (p.Gln422His)
c.*100G>T (n.*100G>T)
17g.58273484C>GCA400369895MPOn.884G>C
c.676G>C (n.676G>C)
n.591G>C
c.1551G>C (p.Gln517His)
c.9G>C (p.Gln3His)
c.1737G>C (p.Gln579His)
c.1266G>C (p.Gln422His)
c.*100G>C (n.*100G>C)
17g.58273484C>TCA501022448MPOn.884G>A
c.676G>A (n.676G>A)
n.591G>A
c.1551G>A (p.Gln517=)
c.9G>A (p.Gln3=)
c.1737G>A (p.Gln579=)
c.1266G>A (p.Gln422=)
c.*100G>A (n.*100G>A)
17g.58273485T>ACA400369898MPOn.883A>T
c.675A>T (n.675A>T)
n.590A>T
c.1550A>T (p.Gln517Leu)
c.8A>T (p.Gln3Leu)
c.1736A>T (p.Gln579Leu)
c.1265A>T (p.Gln422Leu)
c.*99A>T (n.*99A>T)
17g.58273485T>CCA400369899MPOn.883A>G
c.675A>G (n.675A>G)
n.590A>G
c.1550A>G (p.Gln517Arg)
c.8A>G (p.Gln3Arg)
c.1736A>G (p.Gln579Arg)
c.1265A>G (p.Gln422Arg)
c.*99A>G (n.*99A>G)
17g.58273485T>GCA400369901MPOn.883A>C
c.675A>C (n.675A>C)
n.590A>C
c.1550A>C (p.Gln517Pro)
c.8A>C (p.Gln3Pro)
c.1736A>C (p.Gln579Pro)
c.1265A>C (p.Gln422Pro)
c.*99A>C (n.*99A>C)
17g.58273486G>ACA400369904MPOn.882C>T
c.674C>T (n.674C>T)
n.589C>T
c.1549C>T (p.Gln517Ter)
c.7C>T (p.Gln3Ter)
c.1735C>T (p.Gln579Ter)
c.1264C>T (p.Gln422Ter)
c.*98C>T (n.*98C>T)
17g.58273486G>CCA400369908MPOn.882C>G
c.674C>G (n.674C>G)
n.589C>G
c.1549C>G (p.Gln517Glu)
c.7C>G (p.Gln3Glu)
c.1735C>G (p.Gln579Glu)
c.1264C>G (p.Gln422Glu)
c.*98C>G (n.*98C>G)
17g.58273486G>TCA400369906MPOn.882C>A
c.674C>A (n.674C>A)
n.589C>A
c.1549C>A (p.Gln517Lys)
c.7C>A (p.Gln3Lys)
c.1735C>A (p.Gln579Lys)
c.1264C>A (p.Gln422Lys)
c.*98C>A (n.*98C>A)
 gnomAD v4
17g.58273487G>ACA501022463MPOn.881C>T
c.673C>T (n.673C>T)
n.588C>T
c.1548C>T (p.Tyr516=)
c.6C>T (p.Tyr2=)
c.1734C>T (p.Tyr578=)
c.1263C>T (p.Tyr421=)
c.*97C>T (n.*97C>T)
17g.58273487G>CCA400369910MPOn.881C>G
c.673C>G (n.673C>G)
n.588C>G
c.1548C>G (p.Tyr516Ter)
c.6C>G (p.Tyr2Ter)
c.1734C>G (p.Tyr578Ter)
c.1263C>G (p.Tyr421Ter)
c.*97C>G (n.*97C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.58273487G>TCA400369911MPOn.881C>A
c.673C>A (n.673C>A)
n.588C>A
c.1548C>A (p.Tyr516Ter)
c.6C>A (p.Tyr2Ter)
c.1734C>A (p.Tyr578Ter)
c.1263C>A (p.Tyr421Ter)
c.*97C>A (n.*97C>A)
17g.58273488T>ACA400369913MPOn.880A>T
c.672A>T (n.672A>T)
n.587A>T
c.1547A>T (p.Tyr516Phe)
c.5A>T (p.Tyr2Phe)
c.1733A>T (p.Tyr578Phe)
c.1262A>T (p.Tyr421Phe)
c.*96A>T (n.*96A>T)
17g.58273488T>CCA400369914MPOn.880A>G
c.672A>G (n.672A>G)
n.587A>G
c.1547A>G (p.Tyr516Cys)
c.5A>G (p.Tyr2Cys)
c.1733A>G (p.Tyr578Cys)
c.1262A>G (p.Tyr421Cys)
c.*96A>G (n.*96A>G)
17g.58273488T>GCA400369916MPOn.880A>C
c.672A>C (n.672A>C)
n.587A>C
c.1547A>C (p.Tyr516Ser)
c.5A>C (p.Tyr2Ser)
c.1733A>C (p.Tyr578Ser)
c.1262A>C (p.Tyr421Ser)
c.*96A>C (n.*96A>C)
17g.58273489A>CCA400369918MPOn.879T>G
c.671T>G (n.671T>G)
n.586T>G
c.1546T>G (p.Tyr516Asp)
c.4T>G (p.Tyr2Asp)
c.1732T>G (p.Tyr578Asp)
c.1261T>G (p.Tyr421Asp)
c.*95T>G (n.*95T>G)
17g.58273489A>GCA400369919MPOn.879T>C
c.671T>C (n.671T>C)
n.586T>C
c.1546T>C (p.Tyr516His)
c.4T>C (p.Tyr2His)
c.1732T>C (p.Tyr578His)
c.1261T>C (p.Tyr421His)
c.*95T>C (n.*95T>C)
17g.58273489A>TCA400369921MPOn.879T>A
c.671T>A (n.671T>A)
n.586T>A
c.1546T>A (p.Tyr516Asn)
c.4T>A (p.Tyr2Asn)
c.1732T>A (p.Tyr578Asn)
c.1261T>A (p.Tyr421Asn)
c.*95T>A (n.*95T>A)
17g.58273490C>ACA501022478MPOn.878G>T
c.670G>T (n.670G>T)
n.585G>T
c.1545G>T (p.Arg515=)
c.3G>T (p.Arg1=)
c.1731G>T (p.Arg577=)
c.1260G>T (p.Arg420=)
c.*94G>T (n.*94G>T)
17g.58273490C=CA2267631274MPOn.878G=
c.670G= (n.670G=)
n.585G=
c.1545G= (p.Arg515=)
c.3G= (p.Arg1=)
c.1731G= (p.Arg577=)
c.1260G= (p.Arg420=)
c.*94G= (n.*94G=)
17g.58273490C>GCA501022481MPOn.878G>C
c.670G>C (n.670G>C)
n.585G>C
c.1545G>C (p.Arg515=)
c.3G>C (p.Arg1=)
c.1731G>C (p.Arg577=)
c.1260G>C (p.Arg420=)
c.*94G>C (n.*94G>C)
17g.58273490C>TCA501022483MPOn.878G>A
c.670G>A (n.670G>A)
n.585G>A
c.1545G>A (p.Arg515=)
c.3G>A (p.Arg1=)
c.1731G>A (p.Arg577=)
c.1260G>A (p.Arg420=)
c.*94G>A (n.*94G>A)
 dbSNP COSMIC
17g.58273491C>ACA400369924MPOn.877G>T
c.669G>T (n.669G>T)
n.584G>T
c.1544G>T (p.Arg515Leu)
c.2G>T (p.Arg1Leu)
c.1730G>T (p.Arg577Leu)
c.1259G>T (p.Arg420Leu)
c.*93G>T (n.*93G>T)
 gnomAD v4
17g.58273491C=CA2267631275MPOn.877G=
c.669G= (n.669G=)
n.584G=
c.1544G= (p.Arg515=)
c.2G= (p.Arg1=)
c.1730G= (p.Arg577=)
c.1259G= (p.Arg420=)
c.*93G= (n.*93G=)
17g.58273491C>GCA8670601MPOn.877G>C
c.669G>C (n.669G>C)
n.584G>C
c.1544G>C (p.Arg515Pro)
c.2G>C (p.Arg1Pro)
c.1730G>C (p.Arg577Pro)
c.1259G>C (p.Arg420Pro)
c.*93G>C (n.*93G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273491C>TCA8670600MPOn.877G>A
c.669G>A (n.669G>A)
n.584G>A
c.1544G>A (p.Arg515Gln)
c.2G>A (p.Arg1Gln)
c.1730G>A (p.Arg577Gln)
c.1259G>A (p.Arg420Gln)
c.*93G>A (n.*93G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273492G>ACA8670602MPOn.876C>T
c.668C>T (n.668C>T)
n.583C>T
c.1543C>T (p.Arg515Trp)
c.1C>T (p.Arg1Trp)
c.1729C>T (p.Arg577Trp)
c.1258C>T (p.Arg420Trp)
c.*92C>T (n.*92C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273492G>CCA400369928MPOn.876C>G
c.668C>G (n.668C>G)
n.583C>G
c.1543C>G (p.Arg515Gly)
c.1C>G (p.Arg1Gly)
c.1729C>G (p.Arg577Gly)
c.1258C>G (p.Arg420Gly)
c.*92C>G (n.*92C>G)
17g.58273492G=CA2267631276MPOn.876C=
c.668C= (n.668C=)
n.583C=
c.1543C= (p.Arg515=)
c.1C= (p.Arg1=)
c.1729C= (p.Arg577=)
c.1258C= (p.Arg420=)
c.*92C= (n.*92C=)
17g.58273492G>TCA501022498MPOn.876C>A
c.668C>A (n.668C>A)
n.583C>A
c.1543C>A (p.Arg515=)
c.1C>A (p.Arg1=)
c.1729C>A (p.Arg577=)
c.1258C>A (p.Arg420=)
c.*92C>A (n.*92C>A)
17g.58273493A=CA2267631277MPOn.875T=
c.667T= (n.667T=)
n.582T=
c.1542T= (p.Asn514=)
c.1728T= (p.Asn576=)
c.1257T= (p.Asn419=)
c.*91T= (n.*91T=)
17g.58273493A>CCA400369930MPOn.875T>G
c.667T>G (n.667T>G)
n.582T>G
c.1542T>G (p.Asn514Lys)
c.1728T>G (p.Asn576Lys)
c.1257T>G (p.Asn419Lys)
c.*91T>G (n.*91T>G)
17g.58273493A>GCA501022503MPOn.875T>C
c.667T>C (n.667T>C)
n.582T>C
c.1542T>C (p.Asn514=)
c.1728T>C (p.Asn576=)
c.1257T>C (p.Asn419=)
c.*91T>C (n.*91T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273493A>TCA400369932MPOn.875T>A
c.667T>A (n.667T>A)
n.582T>A
c.1542T>A (p.Asn514Lys)
c.1728T>A (p.Asn576Lys)
c.1257T>A (p.Asn419Lys)
c.*91T>A (n.*91T>A)
17g.58273494T>ACA400369933MPOn.874A>T
c.666A>T (n.666A>T)
n.581A>T
c.1541A>T (p.Asn514Ile)
c.1727A>T (p.Asn576Ile)
c.1256A>T (p.Asn419Ile)
c.*90A>T (n.*90A>T)
17g.58273494T>CCA400369935MPOn.874A>G
c.666A>G (n.666A>G)
n.581A>G
c.1541A>G (p.Asn514Ser)
c.1727A>G (p.Asn576Ser)
c.1256A>G (p.Asn419Ser)
c.*90A>G (n.*90A>G)
 gnomAD v4
17g.58273494T>GCA400369937MPOn.874A>C
c.666A>C (n.666A>C)
n.581A>C
c.1541A>C (p.Asn514Thr)
c.1727A>C (p.Asn576Thr)
c.1256A>C (p.Asn419Thr)
c.*90A>C (n.*90A>C)
17g.58273495T>ACA400369939MPOn.873A>T
c.665A>T (n.665A>T)
n.580A>T
c.1540A>T (p.Asn514Tyr)
c.1726A>T (p.Asn576Tyr)
c.1255A>T (p.Asn419Tyr)
c.*89A>T (n.*89A>T)
17g.58273495T>CCA400369941MPOn.873A>G
c.665A>G (n.665A>G)
n.580A>G
c.1540A>G (p.Asn514Asp)
c.1726A>G (p.Asn576Asp)
c.1255A>G (p.Asn419Asp)
c.*89A>G (n.*89A>G)
17g.58273495T>GCA292012225MPOn.873A>C
c.665A>C (n.665A>C)
n.580A>C
c.1540A>C (p.Asn514His)
c.1726A>C (p.Asn576His)
c.1255A>C (p.Asn419His)
c.*89A>C (n.*89A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.58273495T=CA2267631278MPOn.873A=
c.665A= (n.665A=)
n.580A=
c.1540A= (p.Asn514=)
c.1726A= (p.Asn576=)
c.1255A= (p.Asn419=)
c.*89A= (n.*89A=)
17g.58273496G>ACA501022521MPOn.872C>T
c.664C>T (n.664C>T)
n.579C>T
c.1539C>T (p.Asp513=)
c.1725C>T (p.Asp575=)
c.1254C>T (p.Asp418=)
c.*88C>T (n.*88C>T)
 dbSNP gnomAD v2 gnomAD v3
17g.58273496G>CCA400369943MPOn.872C>G
c.664C>G (n.664C>G)
n.579C>G
c.1539C>G (p.Asp513Glu)
c.1725C>G (p.Asp575Glu)
c.1254C>G (p.Asp418Glu)
c.*88C>G (n.*88C>G)
17g.58273496G=CA2267631279MPOn.872C=
c.664C= (n.664C=)
n.579C=
c.1539C= (p.Asp513=)
c.1725C= (p.Asp575=)
c.1254C= (p.Asp418=)
c.*88C= (n.*88C=)
17g.58273496G>TCA400369944MPOn.872C>A
c.664C>A (n.664C>A)
n.579C>A
c.1539C>A (p.Asp513Glu)
c.1725C>A (p.Asp575Glu)
c.1254C>A (p.Asp418Glu)
c.*88C>A (n.*88C>A)
17g.58273497T>ACA400369947MPOn.871A>T
c.663A>T (n.663A>T)
n.578A>T
c.1538A>T (p.Asp513Val)
c.1724A>T (p.Asp575Val)
c.1253A>T (p.Asp418Val)
c.*87A>T (n.*87A>T)
17g.58273497T>CCA8670603MPOn.871A>G
c.663A>G (n.663A>G)
n.578A>G
c.1538A>G (p.Asp513Gly)
c.1724A>G (p.Asp575Gly)
c.1253A>G (p.Asp418Gly)
c.*87A>G (n.*87A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273497T>GCA400369949MPOn.871A>C
c.663A>C (n.663A>C)
n.578A>C
c.1538A>C (p.Asp513Ala)
c.1724A>C (p.Asp575Ala)
c.1253A>C (p.Asp418Ala)
c.*87A>C (n.*87A>C)
17g.58273497T=CA2267631280MPOn.871A=
c.663A= (n.663A=)
n.578A=
c.1538A= (p.Asp513=)
c.1724A= (p.Asp575=)
c.1253A= (p.Asp418=)
c.*87A= (n.*87A=)
17g.58273498C>ACA400369953MPOn.870G>T
c.662G>T (n.662G>T)
n.577G>T
c.1537G>T (p.Asp513Tyr)
c.1723G>T (p.Asp575Tyr)
c.1252G>T (p.Asp418Tyr)
c.*86G>T (n.*86G>T)
17g.58273498C>GCA400369955MPOn.870G>C
c.662G>C (n.662G>C)
n.577G>C
c.1537G>C (p.Asp513His)
c.1723G>C (p.Asp575His)
c.1252G>C (p.Asp418His)
c.*86G>C (n.*86G>C)
17g.58273498C>TCA400369952MPOn.870G>A
c.662G>A (n.662G>A)
n.577G>A
c.1537G>A (p.Asp513Asn)
c.1723G>A (p.Asp575Asn)
c.1252G>A (p.Asp418Asn)
c.*86G>A (n.*86G>A)
 COSMIC COSMIC
17g.58273499C>ACA501022533MPOn.869G>T
c.661G>T (n.661G>T)
n.576G>T
c.1536G>T (p.Leu512=)
c.1722G>T (p.Leu574=)
c.1251G>T (p.Leu417=)
c.*85G>T (n.*85G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.58273499C=CA2267631281MPOn.869G=
c.661G= (n.661G=)
n.576G=
c.1536G= (p.Leu512=)
c.1722G= (p.Leu574=)
c.1251G= (p.Leu417=)
c.*85G= (n.*85G=)
17g.58273499C>GCA501022536MPOn.869G>C
c.661G>C (n.661G>C)
n.576G>C
c.1536G>C (p.Leu512=)
c.1722G>C (p.Leu574=)
c.1251G>C (p.Leu417=)
c.*85G>C (n.*85G>C)
17g.58273499C>TCA501022538MPOn.869G>A
c.661G>A (n.661G>A)
n.576G>A
c.1536G>A (p.Leu512=)
c.1722G>A (p.Leu574=)
c.1251G>A (p.Leu417=)
c.*85G>A (n.*85G>A)
 COSMIC COSMIC
17g.58273500A=CA2267631282MPOn.868T=
c.660T= (n.660T=)
n.575T=
c.1535T= (p.Leu512=)
c.1721T= (p.Leu574=)
c.1250T= (p.Leu417=)
c.*84T= (n.*84T=)
17g.58273500A>CCA400369957MPOn.868T>G
c.660T>G (n.660T>G)
n.575T>G
c.1535T>G (p.Leu512Arg)
c.1721T>G (p.Leu574Arg)
c.1250T>G (p.Leu417Arg)
c.*84T>G (n.*84T>G)
17g.58273500A>GCA400369959MPOn.868T>C
c.660T>C (n.660T>C)
n.575T>C
c.1535T>C (p.Leu512Pro)
c.1721T>C (p.Leu574Pro)
c.1250T>C (p.Leu417Pro)
c.*84T>C (n.*84T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273500A>TCA400369960MPOn.868T>A
c.660T>A (n.660T>A)
n.575T>A
c.1535T>A (p.Leu512Gln)
c.1721T>A (p.Leu574Gln)
c.1250T>A (p.Leu417Gln)
c.*84T>A (n.*84T>A)
17g.58273501G>ACA501022546MPOn.867C>T
c.659C>T (n.659C>T)
n.574C>T
c.1534C>T (p.Leu512=)
c.1720C>T (p.Leu574=)
c.1249C>T (p.Leu417=)
c.*83C>T (n.*83C>T)
17g.58273501G>CCA400369961MPOn.867C>G
c.659C>G (n.659C>G)
n.574C>G
c.1534C>G (p.Leu512Val)
c.1720C>G (p.Leu574Val)
c.1249C>G (p.Leu417Val)
c.*83C>G (n.*83C>G)
17g.58273501G>TCA400369963MPOn.867C>A
c.659C>A (n.659C>A)
n.574C>A
c.1534C>A (p.Leu512Met)
c.1720C>A (p.Leu574Met)
c.1249C>A (p.Leu417Met)
c.*83C>A (n.*83C>A)
17g.58273502G>ACA501022549MPOn.866C>T
c.658C>T (n.658C>T)
n.573C>T
c.1533C>T (p.Arg511=)
c.1719C>T (p.Arg573=)
c.1248C>T (p.Arg416=)
c.*82C>T (n.*82C>T)
17g.58273502G>CCA501022551MPOn.866C>G
c.658C>G (n.658C>G)
n.573C>G
c.1533C>G (p.Arg511=)
c.1719C>G (p.Arg573=)
c.1248C>G (p.Arg416=)
c.*82C>G (n.*82C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273502G=CA2267631283MPOn.866C=
c.658C= (n.658C=)
n.573C=
c.1533C= (p.Arg511=)
c.1719C= (p.Arg573=)
c.1248C= (p.Arg416=)
c.*82C= (n.*82C=)
17g.58273502G>TCA501022553MPOn.866C>A
c.658C>A (n.658C>A)
n.573C>A
c.1533C>A (p.Arg511=)
c.1719C>A (p.Arg573=)
c.1248C>A (p.Arg416=)
c.*82C>A (n.*82C>A)
17g.58273503C>ACA400369964MPOn.865G>T
c.657G>T (n.657G>T)
n.572G>T
c.1532G>T (p.Arg511Leu)
c.1718G>T (p.Arg573Leu)
c.1247G>T (p.Arg416Leu)
c.*81G>T (n.*81G>T)
 gnomAD v4
17g.58273503C=CA2267631284MPOn.865G=
c.657G= (n.657G=)
n.572G=
c.1532G= (p.Arg511=)
c.1718G= (p.Arg573=)
c.1247G= (p.Arg416=)
c.*81G= (n.*81G=)
17g.58273503C>GCA400369965MPOn.865G>C
c.657G>C (n.657G>C)
n.572G>C
c.1532G>C (p.Arg511Pro)
c.1718G>C (p.Arg573Pro)
c.1247G>C (p.Arg416Pro)
c.*81G>C (n.*81G>C)
17g.58273503C>TCA8670604MPOn.865G>A
c.657G>A (n.657G>A)
n.572G>A
c.1532G>A (p.Arg511His)
c.1718G>A (p.Arg573His)
c.1247G>A (p.Arg416His)
c.*81G>A (n.*81G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273504G>ACA8670605MPOn.864C>T
c.656C>T (n.656C>T)
n.571C>T
c.1531C>T (p.Arg511Cys)
c.1717C>T (p.Arg573Cys)
c.1246C>T (p.Arg416Cys)
c.*80C>T (n.*80C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273504G>CCA400369968MPOn.864C>G
c.656C>G (n.656C>G)
n.571C>G
c.1531C>G (p.Arg511Gly)
c.1717C>G (p.Arg573Gly)
c.1246C>G (p.Arg416Gly)
c.*80C>G (n.*80C>G)
17g.58273504G=CA2267631285MPOn.864C=
c.656C= (n.656C=)
n.571C=
c.1531C= (p.Arg511=)
c.1717C= (p.Arg573=)
c.1246C= (p.Arg416=)
c.*80C= (n.*80C=)
17g.58273504G>TCA400369969MPOn.864C>A
c.656C>A (n.656C>A)
n.571C>A
c.1531C>A (p.Arg511Ser)
c.1717C>A (p.Arg573Ser)
c.1246C>A (p.Arg416Ser)
c.*80C>A (n.*80C>A)
17g.58273505G>ACA501022563MPOn.863C>T
c.655C>T (n.655C>T)
n.570C>T
c.1530C>T (p.Phe510=)
c.1716C>T (p.Phe572=)
c.1245C>T (p.Phe415=)
c.*79C>T (n.*79C>T)
 COSMIC COSMIC
17g.58273505G>CCA400369970MPOn.863C>G
c.655C>G (n.655C>G)
n.570C>G
c.1530C>G (p.Phe510Leu)
c.1716C>G (p.Phe572Leu)
c.1245C>G (p.Phe415Leu)
c.*79C>G (n.*79C>G)
17g.58273505G>TCA400369971MPOn.863C>A
c.655C>A (n.655C>A)
n.570C>A
c.1530C>A (p.Phe510Leu)
c.1716C>A (p.Phe572Leu)
c.1245C>A (p.Phe415Leu)
c.*79C>A (n.*79C>A)
17g.58273506A>CCA400369977MPOn.862T>G
c.654T>G (n.654T>G)
n.569T>G
c.1529T>G (p.Phe510Cys)
c.1715T>G (p.Phe572Cys)
c.1244T>G (p.Phe415Cys)
c.*78T>G (n.*78T>G)
17g.58273506A>GCA400369975MPOn.862T>C
c.654T>C (n.654T>C)
n.569T>C
c.1529T>C (p.Phe510Ser)
c.1715T>C (p.Phe572Ser)
c.1244T>C (p.Phe415Ser)
c.*78T>C (n.*78T>C)
17g.58273506A>TCA400369973MPOn.862T>A
c.654T>A (n.654T>A)
n.569T>A
c.1529T>A (p.Phe510Tyr)
c.1715T>A (p.Phe572Tyr)
c.1244T>A (p.Phe415Tyr)
c.*78T>A (n.*78T>A)
17g.58273507A=CA2267631286MPOn.861T=
c.653T= (n.653T=)
n.568T=
c.1528T= (p.Phe510=)
c.1714T= (p.Phe572=)
c.1243T= (p.Phe415=)
c.*77T= (n.*77T=)
17g.58273507A>CCA400369979MPOn.861T>G
c.653T>G (n.653T>G)
n.568T>G
c.1528T>G (p.Phe510Val)
c.1714T>G (p.Phe572Val)
c.1243T>G (p.Phe415Val)
c.*77T>G (n.*77T>G)
17g.58273507A>GCA400369981MPOn.861T>C
c.653T>C (n.653T>C)
n.568T>C
c.1528T>C (p.Phe510Leu)
c.1714T>C (p.Phe572Leu)
c.1243T>C (p.Phe415Leu)
c.*77T>C (n.*77T>C)
 ClinVar
17g.58273507A>TCA400369983MPOn.861T>A
c.653T>A (n.653T>A)
n.568T>A
c.1528T>A (p.Phe510Ile)
c.1714T>A (p.Phe572Ile)
c.1243T>A (p.Phe415Ile)
c.*77T>A (n.*77T>A)
 dbSNP gnomAD v2 gnomAD v4
17g.58273508C>ACA400369985MPOn.860G>T
c.652G>T (n.652G>T)
n.567G>T
c.1527G>T (p.Met509Ile)
c.1713G>T (p.Met571Ile)
c.1242G>T (p.Met414Ile)
c.*76G>T (n.*76G>T)
17g.58273508C=CA2267631287MPOn.860G=
c.652G= (n.652G=)
n.567G=
c.1527G= (p.Met509=)
c.1713G= (p.Met571=)
c.1242G= (p.Met414=)
c.*76G= (n.*76G=)
17g.58273508C>GCA400369987MPOn.860G>C
c.652G>C (n.652G>C)
n.567G>C
c.1527G>C (p.Met509Ile)
c.1713G>C (p.Met571Ile)
c.1242G>C (p.Met414Ile)
c.*76G>C (n.*76G>C)
17g.58273508C>TCA8670606MPOn.860G>A
c.652G>A (n.652G>A)
n.567G>A
c.1527G>A (p.Met509Ile)
c.1713G>A (p.Met571Ile)
c.1242G>A (p.Met414Ile)
c.*76G>A (n.*76G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273509A=CA2267631288MPOn.859T=
c.651T= (n.651T=)
n.566T=
c.1526T= (p.Met509=)
c.1712T= (p.Met571=)
c.1241T= (p.Met414=)
c.*75T= (n.*75T=)
17g.58273509A>CCA400369989MPOn.859T>G
c.651T>G (n.651T>G)
n.566T>G
c.1526T>G (p.Met509Arg)
c.1712T>G (p.Met571Arg)
c.1241T>G (p.Met414Arg)
c.*75T>G (n.*75T>G)
 dbSNP gnomAD v2 gnomAD v4
17g.58273509A>GCA400369991MPOn.859T>C
c.651T>C (n.651T>C)
n.566T>C
c.1526T>C (p.Met509Thr)
c.1712T>C (p.Met571Thr)
c.1241T>C (p.Met414Thr)
c.*75T>C (n.*75T>C)
 gnomAD v4
17g.58273509A>TCA400369993MPOn.859T>A
c.651T>A (n.651T>A)
n.566T>A
c.1526T>A (p.Met509Lys)
c.1712T>A (p.Met571Lys)
c.1241T>A (p.Met414Lys)
c.*75T>A (n.*75T>A)
17g.58273510T>ACA400369995MPOn.858A>T
c.650A>T (n.650A>T)
n.565A>T
c.1525A>T (p.Met509Leu)
c.1711A>T (p.Met571Leu)
c.1240A>T (p.Met414Leu)
c.*74A>T (n.*74A>T)
 dbSNP gnomAD v4
17g.58273510T>CCA400369996MPOn.858A>G
c.650A>G (n.650A>G)
n.565A>G
c.1525A>G (p.Met509Val)
c.1711A>G (p.Met571Val)
c.1240A>G (p.Met414Val)
c.*74A>G (n.*74A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273510T>GCA400369997MPOn.858A>C
c.650A>C (n.650A>C)
n.565A>C
c.1525A>C (p.Met509Leu)
c.1711A>C (p.Met571Leu)
c.1240A>C (p.Met414Leu)
c.*74A>C (n.*74A>C)
 dbSNP
17g.58273510T=CA2267631289MPOn.858A=
c.650A= (n.650A=)
n.565A=
c.1525A= (p.Met509=)
c.1711A= (p.Met571=)
c.1240A= (p.Met414=)
c.*74A= (n.*74A=)
17g.58273511G>ACA501022586MPOn.857C>T
c.649C>T (n.649C>T)
n.564C>T
c.1524C>T (p.Phe508=)
c.1710C>T (p.Phe570=)
c.1239C>T (p.Phe413=)
c.*73C>T (n.*73C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.58273511G>CCA400369998MPOn.857C>G
c.649C>G (n.649C>G)
n.564C>G
c.1524C>G (p.Phe508Leu)
c.1710C>G (p.Phe570Leu)
c.1239C>G (p.Phe413Leu)
c.*73C>G (n.*73C>G)
17g.58273511G=CA2267631290MPOn.857C=
c.649C= (n.649C=)
n.564C=
c.1524C= (p.Phe508=)
c.1710C= (p.Phe570=)
c.1239C= (p.Phe413=)
c.*73C= (n.*73C=)
17g.58273511G>TCA400369999MPOn.857C>A
c.649C>A (n.649C>A)
n.564C>A
c.1524C>A (p.Phe508Leu)
c.1710C>A (p.Phe570Leu)
c.1239C>A (p.Phe413Leu)
c.*73C>A (n.*73C>A)
17g.58273512A>CCA400370004MPOn.856T>G
c.648T>G (n.648T>G)
n.563T>G
c.1523T>G (p.Phe508Cys)
c.1709T>G (p.Phe570Cys)
c.1238T>G (p.Phe413Cys)
c.*72T>G (n.*72T>G)
17g.58273512A>GCA400370005MPOn.856T>C
c.648T>C (n.648T>C)
n.563T>C
c.1523T>C (p.Phe508Ser)
c.1709T>C (p.Phe570Ser)
c.1238T>C (p.Phe413Ser)
c.*72T>C (n.*72T>C)
17g.58273512A>TCA400370002MPOn.856T>A
c.648T>A (n.648T>A)
n.563T>A
c.1523T>A (p.Phe508Tyr)
c.1709T>A (p.Phe570Tyr)
c.1238T>A (p.Phe413Tyr)
c.*72T>A (n.*72T>A)
17g.58273513A>CCA400370006MPOn.855T>G
c.647T>G (n.647T>G)
n.562T>G
c.1522T>G (p.Phe508Val)
c.1708T>G (p.Phe570Val)
c.1237T>G (p.Phe413Val)
c.*71T>G (n.*71T>G)
17g.58273513A>GCA400370007MPOn.855T>C
c.647T>C (n.647T>C)
n.562T>C
c.1522T>C (p.Phe508Leu)
c.1708T>C (p.Phe570Leu)
c.1237T>C (p.Phe413Leu)
c.*71T>C (n.*71T>C)
17g.58273513A>TCA400370008MPOn.855T>A
c.647T>A (n.647T>A)
n.562T>A
c.1522T>A (p.Phe508Ile)
c.1708T>A (p.Phe570Ile)
c.1237T>A (p.Phe413Ile)
c.*71T>A (n.*71T>A)
17g.58273514G>ACA501022605MPOn.854C>T
c.646C>T (n.646C>T)
n.561C>T
c.1521C>T (p.Pro507=)
c.1707C>T (p.Pro569=)
c.1236C>T (p.Pro412=)
c.*70C>T (n.*70C>T)
17g.58273514G>CCA501022606MPOn.854C>G
c.646C>G (n.646C>G)
n.561C>G
c.1521C>G (p.Pro507=)
c.1707C>G (p.Pro569=)
c.1236C>G (p.Pro412=)
c.*70C>G (n.*70C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273514G=CA2267631291MPOn.854C=
c.646C= (n.646C=)
n.561C=
c.1521C= (p.Pro507=)
c.1707C= (p.Pro569=)
c.1236C= (p.Pro412=)
c.*70C= (n.*70C=)
17g.58273514G>TCA501022608MPOn.854C>A
c.646C>A (n.646C>A)
n.561C>A
c.1521C>A (p.Pro507=)
c.1707C>A (p.Pro569=)
c.1236C>A (p.Pro412=)
c.*70C>A (n.*70C>A)
17g.58273516delCA2638968634MPOn.854del
c.646del (n.646del)
n.561del
c.1521del (p.Phe508SerfsTer?)
c.1707del (p.Phe570SerfsTer?)
c.1236del (p.Phe413SerfsTer?)
c.*70del (n.*70del)
 gnomAD v4
17g.58273515G>ACA400370009MPOn.853C>T
c.645C>T (n.645C>T)
n.560C>T
c.1520C>T (p.Pro507Leu)
c.1706C>T (p.Pro569Leu)
c.1235C>T (p.Pro412Leu)
c.*69C>T (n.*69C>T)
 COSMIC COSMIC
17g.58273515G>CCA400370010MPOn.853C>G
c.645C>G (n.645C>G)
n.560C>G
c.1520C>G (p.Pro507Arg)
c.1706C>G (p.Pro569Arg)
c.1235C>G (p.Pro412Arg)
c.*69C>G (n.*69C>G)
17g.58273515G>TCA400370011MPOn.853C>A
c.645C>A (n.645C>A)
n.560C>A
c.1520C>A (p.Pro507His)
c.1706C>A (p.Pro569His)
c.1235C>A (p.Pro412His)
c.*69C>A (n.*69C>A)
17g.58273516G>ACA400370022MPOn.852C>T
c.644C>T (n.644C>T)
n.559C>T
c.1519C>T (p.Pro507Ser)
c.1705C>T (p.Pro569Ser)
c.1234C>T (p.Pro412Ser)
c.*68C>T (n.*68C>T)
 gnomAD v4
17g.58273516G>CCA400370012MPOn.852C>G
c.644C>G (n.644C>G)
n.559C>G
c.1519C>G (p.Pro507Ala)
c.1705C>G (p.Pro569Ala)
c.1234C>G (p.Pro412Ala)
c.*68C>G (n.*68C>G)
17g.58273516G>TCA400370020MPOn.852C>A
c.644C>A (n.644C>A)
n.559C>A
c.1519C>A (p.Pro507Thr)
c.1705C>A (p.Pro569Thr)
c.1234C>A (p.Pro412Thr)
c.*68C>A (n.*68C>A)
17g.58273517T>ACA400370024MPOn.851A>T
c.643A>T (n.643A>T)
n.558A>T
c.1518A>T (p.Gln506His)
c.1704A>T (p.Gln568His)
c.1233A>T (p.Gln411His)
c.*67A>T (n.*67A>T)
17g.58273517T>CCA501022623MPOn.851A>G
c.643A>G (n.643A>G)
n.558A>G
c.1518A>G (p.Gln506=)
c.1704A>G (p.Gln568=)
c.1233A>G (p.Gln411=)
c.*67A>G (n.*67A>G)
 COSMIC COSMIC
17g.58273517T>GCA400370027MPOn.851A>C
c.643A>C (n.643A>C)
n.558A>C
c.1518A>C (p.Gln506His)
c.1704A>C (p.Gln568His)
c.1233A>C (p.Gln411His)
c.*67A>C (n.*67A>C)
17g.58273518T>ACA400370029MPOn.850A>T
c.642A>T (n.642A>T)
n.557A>T
c.1517A>T (p.Gln506Leu)
c.1703A>T (p.Gln568Leu)
c.1232A>T (p.Gln411Leu)
c.*66A>T (n.*66A>T)
17g.58273518T>CCA400370031MPOn.850A>G
c.642A>G (n.642A>G)
n.557A>G
c.1517A>G (p.Gln506Arg)
c.1703A>G (p.Gln568Arg)
c.1232A>G (p.Gln411Arg)
c.*66A>G (n.*66A>G)
17g.58273518T>GCA400370033MPOn.850A>C
c.642A>C (n.642A>C)
n.557A>C
c.1517A>C (p.Gln506Pro)
c.1703A>C (p.Gln568Pro)
c.1232A>C (p.Gln411Pro)
c.*66A>C (n.*66A>C)
17g.58273519G>ACA400370036MPOn.849C>T
c.641C>T (n.641C>T)
n.556C>T
c.1516C>T (p.Gln506Ter)
c.1702C>T (p.Gln568Ter)
c.1231C>T (p.Gln411Ter)
c.*65C>T (n.*65C>T)
17g.58273519G>CCA400370039MPOn.849C>G
c.641C>G (n.641C>G)
n.556C>G
c.1516C>G (p.Gln506Glu)
c.1702C>G (p.Gln568Glu)
c.1231C>G (p.Gln411Glu)
c.*65C>G (n.*65C>G)
17g.58273519G>TCA400370038MPOn.849C>A
c.641C>A (n.641C>A)
n.556C>A
c.1516C>A (p.Gln506Lys)
c.1702C>A (p.Gln568Lys)
c.1231C>A (p.Gln411Lys)
c.*65C>A (n.*65C>A)
17g.58273520G>ACA501022637MPOn.848C>T
c.640C>T (n.640C>T)
n.555C>T
c.1515C>T (p.Ile505=)
c.1701C>T (p.Ile567=)
c.1230C>T (p.Ile410=)
c.*64C>T (n.*64C>T)
17g.58273520G>CCA400370041MPOn.848C>G
c.640C>G (n.640C>G)
n.555C>G
c.1515C>G (p.Ile505Met)
c.1701C>G (p.Ile567Met)
c.1230C>G (p.Ile410Met)
c.*64C>G (n.*64C>G)
17g.58273520G>TCA501022640MPOn.848C>A
c.640C>A (n.640C>A)
n.555C>A
c.1515C>A (p.Ile505=)
c.1701C>A (p.Ile567=)
c.1230C>A (p.Ile410=)
c.*64C>A (n.*64C>A)
17g.58273521delCA2638968661MPOn.847del
c.639del (n.639del)
n.554del
c.1514del (p.Ile505ThrfsTer?)
c.1700del (p.Ile567ThrfsTer?)
c.1229del (p.Ile410ThrfsTer?)
c.*63del (n.*63del)
 gnomAD v4
17g.58273521A>CCA400370045MPOn.847T>G
c.639T>G (n.639T>G)
n.554T>G
c.1514T>G (p.Ile505Ser)
c.1700T>G (p.Ile567Ser)
c.1229T>G (p.Ile410Ser)
c.*63T>G (n.*63T>G)
17g.58273521A>GCA400370046MPOn.847T>C
c.639T>C (n.639T>C)
n.554T>C
c.1514T>C (p.Ile505Thr)
c.1700T>C (p.Ile567Thr)
c.1229T>C (p.Ile410Thr)
c.*63T>C (n.*63T>C)
17g.58273521A>TCA400370048MPOn.847T>A
c.639T>A (n.639T>A)
n.554T>A
c.1514T>A (p.Ile505Asn)
c.1700T>A (p.Ile567Asn)
c.1229T>A (p.Ile410Asn)
c.*63T>A (n.*63T>A)
17g.58273522T>ACA400370050MPOn.846A>T
c.638A>T (n.638A>T)
n.553A>T
c.1513A>T (p.Ile505Phe)
c.1699A>T (p.Ile567Phe)
c.1228A>T (p.Ile410Phe)
c.*62A>T (n.*62A>T)
17g.58273522T>CCA400370052MPOn.846A>G
c.638A>G (n.638A>G)
n.553A>G
c.1513A>G (p.Ile505Val)
c.1699A>G (p.Ile567Val)
c.1228A>G (p.Ile410Val)
c.*62A>G (n.*62A>G)
17g.58273522T>GCA8670607MPOn.846A>C
c.638A>C (n.638A>C)
n.553A>C
c.1513A>C (p.Ile505Leu)
c.1699A>C (p.Ile567Leu)
c.1228A>C (p.Ile410Leu)
c.*62A>C (n.*62A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273522T=CA2267631292MPOn.846A=
c.638A= (n.638A=)
n.553A=
c.1513A= (p.Ile505=)
c.1699A= (p.Ile567=)
c.1228A= (p.Ile410=)
c.*62A= (n.*62A=)
17g.58273523G>ACA8670608MPOn.845C>T
c.637C>T (n.637C>T)
n.552C>T
c.1512C>T (p.Leu504=)
c.1698C>T (p.Leu566=)
c.1227C>T (p.Leu409=)
c.*61C>T (n.*61C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273523G>CCA501022663MPOn.845C>G
c.637C>G (n.637C>G)
n.552C>G
c.1512C>G (p.Leu504=)
c.1698C>G (p.Leu566=)
c.1227C>G (p.Leu409=)
c.*61C>G (n.*61C>G)
17g.58273523G=CA2267631293MPOn.845C=
c.637C= (n.637C=)
n.552C=
c.1512C= (p.Leu504=)
c.1698C= (p.Leu566=)
c.1227C= (p.Leu409=)
c.*61C= (n.*61C=)
17g.58273523G>TCA501022665MPOn.845C>A
c.637C>A (n.637C>A)
n.552C>A
c.1512C>A (p.Leu504=)
c.1698C>A (p.Leu566=)
c.1227C>A (p.Leu409=)
c.*61C>A (n.*61C>A)
17g.58273524A>CCA400370060MPOn.844T>G
c.636T>G (n.636T>G)
n.551T>G
c.1511T>G (p.Leu504Arg)
c.1697T>G (p.Leu566Arg)
c.1226T>G (p.Leu409Arg)
c.*60T>G (n.*60T>G)
17g.58273524A>GCA400370061MPOn.844T>C
c.636T>C (n.636T>C)
n.551T>C
c.1511T>C (p.Leu504Pro)
c.1697T>C (p.Leu566Pro)
c.1226T>C (p.Leu409Pro)
c.*60T>C (n.*60T>C)
 gnomAD v4
17g.58273524A>TCA400370064MPOn.844T>A
c.636T>A (n.636T>A)
n.551T>A
c.1511T>A (p.Leu504His)
c.1697T>A (p.Leu566His)
c.1226T>A (p.Leu409His)
c.*60T>A (n.*60T>A)
17g.58273525G>ACA8670610MPOn.843C>T
c.635C>T (n.635C>T)
n.550C>T
c.1510C>T (p.Leu504Phe)
c.1696C>T (p.Leu566Phe)
c.1225C>T (p.Leu409Phe)
c.*59C>T (n.*59C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273525G>CCA8670609MPOn.843C>G
c.635C>G (n.635C>G)
n.550C>G
c.1510C>G (p.Leu504Val)
c.1696C>G (p.Leu566Val)
c.1225C>G (p.Leu409Val)
c.*59C>G (n.*59C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273525G=CA2267631294MPOn.843C=
c.635C= (n.635C=)
n.550C=
c.1510C= (p.Leu504=)
c.1696C= (p.Leu566=)
c.1225C= (p.Leu409=)
c.*59C= (n.*59C=)
17g.58273525G>TCA400370067MPOn.843C>A
c.635C>A (n.635C>A)
n.550C>A
c.1510C>A (p.Leu504Ile)
c.1696C>A (p.Leu566Ile)
c.1225C>A (p.Leu409Ile)
c.*59C>A (n.*59C>A)
17g.58273526G>ACA501022679MPOn.842C>T
c.634C>T (n.634C>T)
n.549C>T
c.1509C>T (p.Thr503=)
c.1695C>T (p.Thr565=)
c.1224C>T (p.Thr408=)
c.*58C>T (n.*58C>T)
17g.58273526G>CCA501022680MPOn.842C>G
c.634C>G (n.634C>G)
n.549C>G
c.1509C>G (p.Thr503=)
c.1695C>G (p.Thr565=)
c.1224C>G (p.Thr408=)
c.*58C>G (n.*58C>G)
17g.58273526G=CA2267631295MPOn.842C=
c.634C= (n.634C=)
n.549C=
c.1509C= (p.Thr503=)
c.1695C= (p.Thr565=)
c.1224C= (p.Thr408=)
c.*58C= (n.*58C=)
17g.58273526G>TCA501022682MPOn.842C>A
c.634C>A (n.634C>A)
n.549C>A
c.1509C>A (p.Thr503=)
c.1695C>A (p.Thr565=)
c.1224C>A (p.Thr408=)
c.*58C>A (n.*58C>A)
 dbSNP gnomAD v4
17g.58273527G>ACA400370073MPOn.841C>T
c.633C>T (n.633C>T)
n.548C>T
c.1508C>T (p.Thr503Ile)
c.1694C>T (p.Thr565Ile)
c.1223C>T (p.Thr408Ile)
c.*57C>T (n.*57C>T)
17g.58273527G>CCA400370071MPOn.841C>G
c.633C>G (n.633C>G)
n.548C>G
c.1508C>G (p.Thr503Ser)
c.1694C>G (p.Thr565Ser)
c.1223C>G (p.Thr408Ser)
c.*57C>G (n.*57C>G)
17g.58273527G>TCA400370075MPOn.841C>A
c.633C>A (n.633C>A)
n.548C>A
c.1508C>A (p.Thr503Asn)
c.1694C>A (p.Thr565Asn)
c.1223C>A (p.Thr408Asn)
c.*57C>A (n.*57C>A)
 gnomAD v4
17g.58273528T>ACA400370077MPOn.840A>T
c.632A>T (n.632A>T)
n.547A>T
c.1507A>T (p.Thr503Ser)
c.1693A>T (p.Thr565Ser)
c.1222A>T (p.Thr408Ser)
c.*56A>T (n.*56A>T)
17g.58273528T>CCA292012265MPOn.840A>G
c.632A>G (n.632A>G)
n.547A>G
c.1507A>G (p.Thr503Ala)
c.1693A>G (p.Thr565Ala)
c.1222A>G (p.Thr408Ala)
c.*56A>G (n.*56A>G)
 dbSNP
17g.58273528T>GCA400370081MPOn.840A>C
c.632A>C (n.632A>C)
n.547A>C
c.1507A>C (p.Thr503Pro)
c.1693A>C (p.Thr565Pro)
c.1222A>C (p.Thr408Pro)
c.*56A>C (n.*56A>C)
17g.58273528T=CA2267631296MPOn.840A=
c.632A= (n.632A=)
n.547A=
c.1507A= (p.Thr503=)
c.1693A= (p.Thr565=)
c.1222A= (p.Thr408=)
c.*56A= (n.*56A=)
17g.58273529G>ACA501022693MPOn.839C>T
c.631C>T (n.631C>T)
n.546C>T
c.1506C>T (p.His502=)
c.1692C>T (p.His564=)
c.1221C>T (p.His407=)
c.*55C>T (n.*55C>T)
17g.58273529G>CCA400370084MPOn.839C>G
c.631C>G (n.631C>G)
n.546C>G
c.1506C>G (p.His502Gln)
c.1692C>G (p.His564Gln)
c.1221C>G (p.His407Gln)
c.*55C>G (n.*55C>G)
17g.58273529G>TCA400370086MPOn.839C>A
c.631C>A (n.631C>A)
n.546C>A
c.1506C>A (p.His502Gln)
c.1692C>A (p.His564Gln)
c.1221C>A (p.His407Gln)
c.*55C>A (n.*55C>A)
17g.58273530T>ACA400370090MPOn.838A>T
c.630A>T (n.630A>T)
n.545A>T
c.1505A>T (p.His502Leu)
c.1691A>T (p.His564Leu)
c.1220A>T (p.His407Leu)
c.*54A>T (n.*54A>T)
17g.58273530T>CCA400370094MPOn.838A>G
c.630A>G (n.630A>G)
n.545A>G
c.1505A>G (p.His502Arg)
c.1691A>G (p.His564Arg)
c.1220A>G (p.His407Arg)
c.*54A>G (n.*54A>G)
17g.58273530T>GCA400370097MPOn.838A>C
c.630A>C (n.630A>C)
n.545A>C
c.1505A>C (p.His502Pro)
c.1691A>C (p.His564Pro)
c.1220A>C (p.His407Pro)
c.*54A>C (n.*54A>C)
17g.58273531G>ACA400370100MPOn.837C>T
c.629C>T (n.629C>T)
n.544C>T
c.1504C>T (p.His502Tyr)
c.1690C>T (p.His564Tyr)
c.1219C>T (p.His407Tyr)
c.*53C>T (n.*53C>T)
17g.58273531G>CCA400370106MPOn.837C>G
c.629C>G (n.629C>G)
n.544C>G
c.1504C>G (p.His502Asp)
c.1690C>G (p.His564Asp)
c.1219C>G (p.His407Asp)
c.*53C>G (n.*53C>G)
17g.58273531G>TCA400370103MPOn.837C>A
c.629C>A (n.629C>A)
n.544C>A
c.1504C>A (p.His502Asn)
c.1690C>A (p.His564Asn)
c.1219C>A (p.His407Asn)
c.*53C>A (n.*53C>A)
17g.58273532G>ACA292012271MPOn.836C>T
c.628C>T (n.628C>T)
n.543C>T
c.1503C>T (p.Gly501=)
c.1689C>T (p.Gly563=)
c.1218C>T (p.Gly406=)
c.*52C>T (n.*52C>T)
 dbSNP
17g.58273532G>CCA501022711MPOn.836C>G
c.628C>G (n.628C>G)
n.543C>G
c.1503C>G (p.Gly501=)
c.1689C>G (p.Gly563=)
c.1218C>G (p.Gly406=)
c.*52C>G (n.*52C>G)
17g.58273532G=CA2267631297MPOn.836C=
c.628C= (n.628C=)
n.543C=
c.1503C= (p.Gly501=)
c.1689C= (p.Gly563=)
c.1218C= (p.Gly406=)
c.*52C= (n.*52C=)
17g.58273532G>TCA501022715MPOn.836C>A
c.628C>A (n.628C>A)
n.543C>A
c.1503C>A (p.Gly501=)
c.1689C>A (p.Gly563=)
c.1218C>A (p.Gly406=)
c.*52C>A (n.*52C>A)
17g.58273533C>ACA8670611MPOn.835G>T
c.627G>T (n.627G>T)
n.542G>T
c.1502G>T (p.Gly501Val)
c.1688G>T (p.Gly563Val)
c.1217G>T (p.Gly406Val)
c.*51G>T (n.*51G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273533C=CA2267631298MPOn.835G=
c.627G= (n.627G=)
n.542G=
c.1502G= (p.Gly501=)
c.1688G= (p.Gly563=)
c.1217G= (p.Gly406=)
c.*51G= (n.*51G=)
17g.58273533C>GCA400370115MPOn.835G>C
c.627G>C (n.627G>C)
n.542G>C
c.1502G>C (p.Gly501Ala)
c.1688G>C (p.Gly563Ala)
c.1217G>C (p.Gly406Ala)
c.*51G>C (n.*51G>C)
17g.58273533C>TCA400370117MPOn.835G>A
c.627G>A (n.627G>A)
n.542G>A
c.1502G>A (p.Gly501Asp)
c.1688G>A (p.Gly563Asp)
c.1217G>A (p.Gly406Asp)
c.*51G>A (n.*51G>A)
17g.58273534C>ACA400370119MPOn.834G>T
c.626G>T (n.626G>T)
n.541G>T
c.1501G>T (p.Gly501Cys)
c.1687G>T (p.Gly563Cys)
c.1216G>T (p.Gly406Cys)
c.*50G>T (n.*50G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.58273534C=CA2267631299MPOn.834G=
c.626G= (n.626G=)
n.541G=
c.1501G= (p.Gly501=)
c.1687G= (p.Gly563=)
c.1216G= (p.Gly406=)
c.*50G= (n.*50G=)
17g.58273534C>GCA400370121MPOn.834G>C
c.626G>C (n.626G>C)
n.541G>C
c.1501G>C (p.Gly501Arg)
c.1687G>C (p.Gly563Arg)
c.1216G>C (p.Gly406Arg)
c.*50G>C (n.*50G>C)
17g.58273534C>TCA116393MPOn.834G>A
c.626G>A (n.626G>A)
n.541G>A
c.1501G>A (p.Gly501Ser)
c.1687G>A (p.Gly563Ser)
c.1216G>A (p.Gly406Ser)
c.*50G>A (n.*50G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273535G>ACA8670612MPOn.833C>T
c.625C>T (n.625C>T)
n.540C>T
c.1500C>T (p.Tyr500=)
c.1686C>T (p.Tyr562=)
c.1215C>T (p.Tyr405=)
c.*49C>T (n.*49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273535G>CCA400370123MPOn.833C>G
c.625C>G (n.625C>G)
n.540C>G
c.1500C>G (p.Tyr500Ter)
c.1686C>G (p.Tyr562Ter)
c.1215C>G (p.Tyr405Ter)
c.*49C>G (n.*49C>G)
17g.58273535G=CA2267631300MPOn.833C=
c.625C= (n.625C=)
n.540C=
c.1500C= (p.Tyr500=)
c.1686C= (p.Tyr562=)
c.1215C= (p.Tyr405=)
c.*49C= (n.*49C=)
17g.58273535G>TCA400370125MPOn.833C>A
c.625C>A (n.625C>A)
n.540C>A
c.1500C>A (p.Tyr500Ter)
c.1686C>A (p.Tyr562Ter)
c.1215C>A (p.Tyr405Ter)
c.*49C>A (n.*49C>A)
17g.58273536T>ACA400370127MPOn.832A>T
c.624A>T (n.624A>T)
n.539A>T
c.1499A>T (p.Tyr500Phe)
c.1685A>T (p.Tyr562Phe)
c.1214A>T (p.Tyr405Phe)
c.*48A>T (n.*48A>T)
17g.58273536T>CCA400370130MPOn.832A>G
c.624A>G (n.624A>G)
n.539A>G
c.1499A>G (p.Tyr500Cys)
c.1685A>G (p.Tyr562Cys)
c.1214A>G (p.Tyr405Cys)
c.*48A>G (n.*48A>G)
17g.58273536T>GCA400370132MPOn.832A>C
c.624A>C (n.624A>C)
n.539A>C
c.1499A>C (p.Tyr500Ser)
c.1685A>C (p.Tyr562Ser)
c.1214A>C (p.Tyr405Ser)
c.*48A>C (n.*48A>C)
17g.58273537A>CCA400370133MPOn.831T>G
c.623T>G (n.623T>G)
n.538T>G
c.1498T>G (p.Tyr500Asp)
c.1684T>G (p.Tyr562Asp)
c.1213T>G (p.Tyr405Asp)
c.*47T>G (n.*47T>G)
17g.58273537A>GCA400370135MPOn.831T>C
c.623T>C (n.623T>C)
n.538T>C
c.1498T>C (p.Tyr500His)
c.1684T>C (p.Tyr562His)
c.1213T>C (p.Tyr405His)
c.*47T>C (n.*47T>C)
17g.58273537A>TCA400370137MPOn.831T>A
c.623T>A (n.623T>A)
n.538T>A
c.1498T>A (p.Tyr500Asn)
c.1684T>A (p.Tyr562Asn)
c.1213T>A (p.Tyr405Asn)
c.*47T>A (n.*47T>A)
17g.58273538G>ACA501022748MPOn.830C>T
c.622C>T (n.622C>T)
n.537C>T
c.1497C>T (p.Arg499=)
c.1683C>T (p.Arg561=)
c.1212C>T (p.Arg404=)
c.*46C>T (n.*46C>T)
17g.58273538G>CCA501022752MPOn.830C>G
c.622C>G (n.622C>G)
n.537C>G
c.1497C>G (p.Arg499=)
c.1683C>G (p.Arg561=)
c.1212C>G (p.Arg404=)
c.*46C>G (n.*46C>G)
17g.58273538G>TCA501022750MPOn.830C>A
c.622C>A (n.622C>A)
n.537C>A
c.1497C>A (p.Arg499=)
c.1683C>A (p.Arg561=)
c.1212C>A (p.Arg404=)
c.*46C>A (n.*46C>A)
17g.58273539C>ACA400370138MPOn.829G>T
c.621G>T (n.621G>T)
n.536G>T
c.1496G>T (p.Arg499Leu)
c.1682G>T (p.Arg561Leu)
c.1211G>T (p.Arg404Leu)
c.*45G>T (n.*45G>T)
 dbSNP gnomAD v2
17g.58273539C=CA2267631301MPOn.829G=
c.621G= (n.621G=)
n.536G=
c.1496G= (p.Arg499=)
c.1682G= (p.Arg561=)
c.1211G= (p.Arg404=)
c.*45G= (n.*45G=)
17g.58273539C>GCA400370140MPOn.829G>C
c.621G>C (n.621G>C)
n.536G>C
c.1496G>C (p.Arg499Pro)
c.1682G>C (p.Arg561Pro)
c.1211G>C (p.Arg404Pro)
c.*45G>C (n.*45G>C)
17g.58273539C>TCA8670613MPOn.829G>A
c.621G>A (n.621G>A)
n.536G>A
c.1496G>A (p.Arg499His)
c.1682G>A (p.Arg561His)
c.1211G>A (p.Arg404His)
c.*45G>A (n.*45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273540G>ACA116396MPOn.828C>T
c.620C>T (n.620C>T)
n.535C>T
c.1495C>T (p.Arg499Cys)
c.1681C>T (p.Arg561Cys)
c.1210C>T (p.Arg404Cys)
c.*44C>T (n.*44C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.58273540G>CCA400370145MPOn.828C>G
c.620C>G (n.620C>G)
n.535C>G
c.1495C>G (p.Arg499Gly)
c.1681C>G (p.Arg561Gly)
c.1210C>G (p.Arg404Gly)
c.*44C>G (n.*44C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.58273540G=CA2267631302MPOn.828C=
c.620C= (n.620C=)
n.535C=
c.1495C= (p.Arg499=)
c.1681C= (p.Arg561=)
c.1210C= (p.Arg404=)
c.*44C= (n.*44C=)
17g.58273540G>TCA400370143MPOn.828C>A
c.620C>A (n.620C>A)
n.535C>A
c.1495C>A (p.Arg499Ser)
c.1681C>A (p.Arg561Ser)
c.1210C>A (p.Arg404Ser)
c.*44C>A (n.*44C>A)
17g.58273541G>ACA8670614MPOn.827C>T
c.619C>T (n.619C>T)
n.534C>T
c.1494C>T (p.Phe498=)
c.1680C>T (p.Phe560=)
c.1209C>T (p.Phe403=)
c.*43C>T (n.*43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273541G>CCA400370146MPOn.827C>G
c.619C>G (n.619C>G)
n.534C>G
c.1494C>G (p.Phe498Leu)
c.1680C>G (p.Phe560Leu)
c.1209C>G (p.Phe403Leu)
c.*43C>G (n.*43C>G)
17g.58273541G=CA2267631303MPOn.827C=
c.619C= (n.619C=)
n.534C=
c.1494C= (p.Phe498=)
c.1680C= (p.Phe560=)
c.1209C= (p.Phe403=)
c.*43C= (n.*43C=)
17g.58273541G>TCA400370147MPOn.827C>A
c.619C>A (n.619C>A)
n.534C>A
c.1494C>A (p.Phe498Leu)
c.1680C>A (p.Phe560Leu)
c.1209C>A (p.Phe403Leu)
c.*43C>A (n.*43C>A)
17g.58273542A=CA2267631304MPOn.826T=
c.618T= (n.618T=)
n.533T=
c.1493T= (p.Phe498=)
c.1679T= (p.Phe560=)
c.1208T= (p.Phe403=)
c.*42T= (n.*42T=)
17g.58273542A>CCA400370148MPOn.826T>G
c.618T>G (n.618T>G)
n.533T>G
c.1493T>G (p.Phe498Cys)
c.1679T>G (p.Phe560Cys)
c.1208T>G (p.Phe403Cys)
c.*42T>G (n.*42T>G)
17g.58273542A>GCA8670615MPOn.826T>C
c.618T>C (n.618T>C)
n.533T>C
c.1493T>C (p.Phe498Ser)
c.1679T>C (p.Phe560Ser)
c.1208T>C (p.Phe403Ser)
c.*42T>C (n.*42T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.58273542A>TCA400370149MPOn.826T>A
c.618T>A (n.618T>A)
n.533T>A
c.1493T>A (p.Phe498Tyr)
c.1679T>A (p.Phe560Tyr)
c.1208T>A (p.Phe403Tyr)
c.*42T>A (n.*42T>A)
17g.58273543A=CA2267631305MPOn.825T=
c.617T= (n.617T=)
n.532T=
c.1492T= (p.Phe498=)
c.1678T= (p.Phe560=)
c.1207T= (p.Phe403=)
c.*41T= (n.*41T=)
17g.58273543A>CCA400370151MPOn.825T>G
c.617T>G (n.617T>G)
n.532T>G
c.1492T>G (p.Phe498Val)
c.1678T>G (p.Phe560Val)
c.1207T>G (p.Phe403Val)
c.*41T>G (n.*41T>G)
 dbSNP
17g.58273543A>GCA400370152MPOn.825T>C
c.617T>C (n.617T>C)
n.532T>C
c.1492T>C (p.Phe498Leu)
c.1678T>C (p.Phe560Leu)
c.1207T>C (p.Phe403Leu)
c.*41T>C (n.*41T>C)
17g.58273543A>TCA400370157MPOn.825T>A
c.617T>A (n.617T>A)
n.532T>A
c.1492T>A (p.Phe498Ile)
c.1678T>A (p.Phe560Ile)
c.1207T>A (p.Phe403Ile)
c.*41T>A (n.*41T>A)
17g.58273544G>ACA501022771MPOn.824C>T
c.616C>T (n.616C>T)
n.531C>T
c.1491C>T (p.Ala497=)
c.1677C>T (p.Ala559=)
c.1206C>T (p.Ala402=)
c.*40C>T (n.*40C>T)
17g.58273544G>CCA501022774MPOn.824C>G
c.616C>G (n.616C>G)
n.531C>G
c.1491C>G (p.Ala497=)
c.1677C>G (p.Ala559=)
c.1206C>G (p.Ala402=)
c.*40C>G (n.*40C>G)
17g.58273544G>TCA501022775MPOn.824C>A
c.616C>A (n.616C>A)
n.531C>A
c.1491C>A (p.Ala497=)
c.1677C>A (p.Ala559=)
c.1206C>A (p.Ala402=)
c.*40C>A (n.*40C>A)
17g.58273545G>ACA400370158MPOn.823C>T
c.615C>T (n.615C>T)
n.530C>T
c.1490C>T (p.Ala497Val)
c.1676C>T (p.Ala559Val)
c.1205C>T (p.Ala402Val)
c.*39C>T (n.*39C>T)
 gnomAD v4
17g.58273545G>CCA400370160MPOn.823C>G
c.615C>G (n.615C>G)
n.530C>G
c.1490C>G (p.Ala497Gly)
c.1676C>G (p.Ala559Gly)
c.1205C>G (p.Ala402Gly)
c.*39C>G (n.*39C>G)
 dbSNP
17g.58273545G=CA2267631306MPOn.823C=
c.615C= (n.615C=)
n.530C=
c.1490C= (p.Ala497=)
c.1676C= (p.Ala559=)
c.1205C= (p.Ala402=)
c.*39C= (n.*39C=)
17g.58273545G>TCA400370161MPOn.823C>A
c.615C>A (n.615C>A)
n.530C>A
c.1490C>A (p.Ala497Asp)
c.1676C>A (p.Ala559Asp)
c.1205C>A (p.Ala402Asp)
c.*39C>A (n.*39C>A)
17g.58273546C>ACA400370166MPOn.822G>T
c.614G>T (n.614G>T)
n.529G>T
c.1489G>T (p.Ala497Ser)
c.1675G>T (p.Ala559Ser)
c.1204G>T (p.Ala402Ser)
c.*38G>T (n.*38G>T)
17g.58273546C>GCA400370163MPOn.822G>C
c.614G>C (n.614G>C)
n.529G>C
c.1489G>C (p.Ala497Pro)
c.1675G>C (p.Ala559Pro)
c.1204G>C (p.Ala402Pro)
c.*38G>C (n.*38G>C)
17g.58273546C>TCA400370164MPOn.822G>A
c.614G>A (n.614G>A)
n.529G>A
c.1489G>A (p.Ala497Thr)
c.1675G>A (p.Ala559Thr)
c.1204G>A (p.Ala402Thr)
c.*38G>A (n.*38G>A)
17g.58273547_58273558delCA2638968766MPOn.811_822del
c.603_614del (n.603_614del)
n.518_529del
c.1478_1489del (p.Val493_Asn496del)
c.1664_1675del (p.Val555_Asn558del)
c.1193_1204del (p.Val398_Asn401del)
c.*27_*38del (n.*27_*38del)
 gnomAD v4
17g.58273547A>CCA400370167MPOn.821T>G
c.613T>G (n.613T>G)
n.528T>G
c.1488T>G (p.Asn496Lys)
c.1674T>G (p.Asn558Lys)
c.1203T>G (p.Asn401Lys)
c.*37T>G (n.*37T>G)
17g.58273547A>GCA501022807MPOn.821T>C
c.613T>C (n.613T>C)
n.528T>C
c.1488T>C (p.Asn496=)
c.1674T>C (p.Asn558=)
c.1203T>C (p.Asn401=)
c.*37T>C (n.*37T>C)
17g.58273547A>TCA400370169MPOn.821T>A
c.613T>A (n.613T>A)
n.528T>A
c.1488T>A (p.Asn496Lys)
c.1674T>A (p.Asn558Lys)
c.1203T>A (p.Asn401Lys)
c.*37T>A (n.*37T>A)
17g.58273548T>ACA400370171MPOn.820A>T
c.612A>T (n.612A>T)
n.527A>T
c.1487A>T (p.Asn496Ile)
c.1673A>T (p.Asn558Ile)
c.1202A>T (p.Asn401Ile)
c.*36A>T (n.*36A>T)
17g.58273548T>CCA400370173MPOn.820A>G
c.612A>G (n.612A>G)
n.527A>G
c.1487A>G (p.Asn496Ser)
c.1673A>G (p.Asn558Ser)
c.1202A>G (p.Asn401Ser)
c.*36A>G (n.*36A>G)
17g.58273548T>GCA8670616MPOn.820A>C
c.612A>C (n.612A>C)
n.527A>C
c.1487A>C (p.Asn496Thr)
c.1673A>C (p.Asn558Thr)
c.1202A>C (p.Asn401Thr)
c.*36A>C (n.*36A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273548T=CA2267631307MPOn.820A=
c.612A= (n.612A=)
n.527A=
c.1487A= (p.Asn496=)
c.1673A= (p.Asn558=)
c.1202A= (p.Asn401=)
c.*36A= (n.*36A=)
17g.58273549T>ACA400370176MPOn.819A>T
c.611A>T (n.611A>T)
n.526A>T
c.1486A>T (p.Asn496Tyr)
c.1672A>T (p.Asn558Tyr)
c.1201A>T (p.Asn401Tyr)
c.*35A>T (n.*35A>T)
17g.58273549T>CCA400370177MPOn.819A>G
c.611A>G (n.611A>G)
n.526A>G
c.1486A>G (p.Asn496Asp)
c.1672A>G (p.Asn558Asp)
c.1201A>G (p.Asn401Asp)
c.*35A>G (n.*35A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.58273549T>GCA400370179MPOn.819A>C
c.611A>C (n.611A>C)
n.526A>C
c.1486A>C (p.Asn496His)
c.1672A>C (p.Asn558His)
c.1201A>C (p.Asn401His)
c.*35A>C (n.*35A>C)
17g.58273549T=CA2267631308MPOn.819A=
c.611A= (n.611A=)
n.526A=
c.1486A= (p.Asn496=)
c.1672A= (p.Asn558=)
c.1201A= (p.Asn401=)
c.*35A= (n.*35A=)
17g.58273550G>ACA501022823MPOn.818C>T
c.610C>T (n.610C>T)
n.525C>T
c.1485C>T (p.Thr495=)
c.1671C>T (p.Thr557=)
c.1200C>T (p.Thr400=)
c.*34C>T (n.*34C>T)
17g.58273550G>CCA501022828MPOn.818C>G
c.610C>G (n.610C>G)
n.525C>G
c.1485C>G (p.Thr495=)
c.1671C>G (p.Thr557=)
c.1200C>G (p.Thr400=)
c.*34C>G (n.*34C>G)
17g.58273550G=CA2267631309MPOn.818C=
c.610C= (n.610C=)
n.525C=
c.1485C= (p.Thr495=)
c.1671C= (p.Thr557=)
c.1200C= (p.Thr400=)
c.*34C= (n.*34C=)
17g.58273550G>TCA501022825MPOn.818C>A
c.610C>A (n.610C>A)
n.525C>A
c.1485C>A (p.Thr495=)
c.1671C>A (p.Thr557=)
c.1200C>A (p.Thr400=)
c.*34C>A (n.*34C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.58273551delCA2638968786MPOn.818del
c.610del (n.610del)
n.525del
c.1485del (p.Asn496MetfsTer?)
c.1671del (p.Asn558MetfsTer?)
c.1200del (p.Asn401MetfsTer?)
c.*34del (n.*34del)
 gnomAD v4
17g.58273551G>ACA8670617MPOn.817C>T
c.609C>T (n.609C>T)
n.524C>T
c.1484C>T (p.Thr495Ile)
c.1670C>T (p.Thr557Ile)
c.1199C>T (p.Thr400Ile)
c.*33C>T (n.*33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273551G>CCA400370181MPOn.817C>G
c.609C>G (n.609C>G)
n.524C>G
c.1484C>G (p.Thr495Ser)
c.1670C>G (p.Thr557Ser)
c.1199C>G (p.Thr400Ser)
c.*33C>G (n.*33C>G)
17g.58273551G=CA2267631310MPOn.817C=
c.609C= (n.609C=)
n.524C=
c.1484C= (p.Thr495=)
c.1670C= (p.Thr557=)
c.1199C= (p.Thr400=)
c.*33C= (n.*33C=)
17g.58273551G>TCA8670618MPOn.817C>A
c.609C>A (n.609C>A)
n.524C>A
c.1484C>A (p.Thr495Asn)
c.1670C>A (p.Thr557Asn)
c.1199C>A (p.Thr400Asn)
c.*33C>A (n.*33C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273552T>ACA400370184MPOn.816A>T
c.608A>T (n.608A>T)
n.523A>T
c.1483A>T (p.Thr495Ser)
c.1669A>T (p.Thr557Ser)
c.1198A>T (p.Thr400Ser)
c.*32A>T (n.*32A>T)
17g.58273552T>CCA8670619MPOn.816A>G
c.608A>G (n.608A>G)
n.523A>G
c.1483A>G (p.Thr495Ala)
c.1669A>G (p.Thr557Ala)
c.1198A>G (p.Thr400Ala)
c.*32A>G (n.*32A>G)
 dbSNP ExAC gnomAD v4
17g.58273552T>GCA8670620MPOn.816A>C
c.608A>C (n.608A>C)
n.523A>C
c.1483A>C (p.Thr495Pro)
c.1669A>C (p.Thr557Pro)
c.1198A>C (p.Thr400Pro)
c.*32A>C (n.*32A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273552T=CA2267631311MPOn.816A=
c.608A= (n.608A=)
n.523A=
c.1483A= (p.Thr495=)
c.1669A= (p.Thr557=)
c.1198A= (p.Thr400=)
c.*32A= (n.*32A=)
17g.58273553G>ACA8670621MPOn.815C>T
c.607C>T (n.607C>T)
n.522C>T
c.1482C>T (p.Phe494=)
c.1668C>T (p.Phe556=)
c.1197C>T (p.Phe399=)
c.*31C>T (n.*31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273553G>CCA400370188MPOn.815C>G
c.607C>G (n.607C>G)
n.522C>G
c.1482C>G (p.Phe494Leu)
c.1668C>G (p.Phe556Leu)
c.1197C>G (p.Phe399Leu)
c.*31C>G (n.*31C>G)
17g.58273553G=CA2267631312MPOn.815C=
c.607C= (n.607C=)
n.522C=
c.1482C= (p.Phe494=)
c.1668C= (p.Phe556=)
c.1197C= (p.Phe399=)
c.*31C= (n.*31C=)
17g.58273553G>TCA400370186MPOn.815C>A
c.607C>A (n.607C>A)
n.522C>A
c.1482C>A (p.Phe494Leu)
c.1668C>A (p.Phe556Leu)
c.1197C>A (p.Phe399Leu)
c.*31C>A (n.*31C>A)
17g.58273554A>CCA400370190MPOn.814T>G
c.606T>G (n.606T>G)
n.521T>G
c.1481T>G (p.Phe494Cys)
c.1667T>G (p.Phe556Cys)
c.1196T>G (p.Phe399Cys)
c.*30T>G (n.*30T>G)
17g.58273554A>GCA400370192MPOn.814T>C
c.606T>C (n.606T>C)
n.521T>C
c.1481T>C (p.Phe494Ser)
c.1667T>C (p.Phe556Ser)
c.1196T>C (p.Phe399Ser)
c.*30T>C (n.*30T>C)
17g.58273554A>TCA400370193MPOn.814T>A
c.606T>A (n.606T>A)
n.521T>A
c.1481T>A (p.Phe494Tyr)
c.1667T>A (p.Phe556Tyr)
c.1196T>A (p.Phe399Tyr)
c.*30T>A (n.*30T>A)
17g.58273555A>CCA400370194MPOn.813T>G
c.605T>G (n.605T>G)
n.520T>G
c.1480T>G (p.Phe494Val)
c.1666T>G (p.Phe556Val)
c.1195T>G (p.Phe399Val)
c.*29T>G (n.*29T>G)
17g.58273555A>GCA400370195MPOn.813T>C
c.605T>C (n.605T>C)
n.520T>C
c.1480T>C (p.Phe494Leu)
c.1666T>C (p.Phe556Leu)
c.1195T>C (p.Phe399Leu)
c.*29T>C (n.*29T>C)
17g.58273555A>TCA400370197MPOn.813T>A
c.605T>A (n.605T>A)
n.520T>A
c.1480T>A (p.Phe494Ile)
c.1666T>A (p.Phe556Ile)
c.1195T>A (p.Phe399Ile)
c.*29T>A (n.*29T>A)
17g.58273556G>ACA8670622MPOn.812C>T
c.604C>T (n.604C>T)
n.519C>T
c.1479C>T (p.Val493=)
c.1665C>T (p.Val555=)
c.1194C>T (p.Val398=)
c.*28C>T (n.*28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273556G>CCA501022868MPOn.812C>G
c.604C>G (n.604C>G)
n.519C>G
c.1479C>G (p.Val493=)
c.1665C>G (p.Val555=)
c.1194C>G (p.Val398=)
c.*28C>G (n.*28C>G)
17g.58273556G=CA2267631313MPOn.812C=
c.604C= (n.604C=)
n.519C=
c.1479C= (p.Val493=)
c.1665C= (p.Val555=)
c.1194C= (p.Val398=)
c.*28C= (n.*28C=)
17g.58273556G>TCA501022871MPOn.812C>A
c.604C>A (n.604C>A)
n.519C>A
c.1479C>A (p.Val493=)
c.1665C>A (p.Val555=)
c.1194C>A (p.Val398=)
c.*28C>A (n.*28C>A)
17g.58273557A>CCA400370199MPOn.811T>G
c.603T>G (n.603T>G)
n.518T>G
c.1478T>G (p.Val493Gly)
c.1664T>G (p.Val555Gly)
c.1193T>G (p.Val398Gly)
c.*27T>G (n.*27T>G)
17g.58273557A>GCA400370201MPOn.811T>C
c.603T>C (n.603T>C)
n.518T>C
c.1478T>C (p.Val493Ala)
c.1664T>C (p.Val555Ala)
c.1193T>C (p.Val398Ala)
c.*27T>C (n.*27T>C)
17g.58273557A>TCA400370202MPOn.811T>A
c.603T>A (n.603T>A)
n.518T>A
c.1478T>A (p.Val493Asp)
c.1664T>A (p.Val555Asp)
c.1193T>A (p.Val398Asp)
c.*27T>A (n.*27T>A)
17g.58273558C>ACA400370206MPOn.810G>T
c.602G>T (n.602G>T)
n.517G>T
c.1477G>T (p.Val493Phe)
c.1663G>T (p.Val555Phe)
c.1192G>T (p.Val398Phe)
c.*26G>T (n.*26G>T)
17g.58273558C=CA2267631314MPOn.810G=
c.602G= (n.602G=)
n.517G=
c.1477G= (p.Val493=)
c.1663G= (p.Val555=)
c.1192G= (p.Val398=)
c.*26G= (n.*26G=)
17g.58273558C>GCA400370205MPOn.810G>C
c.602G>C (n.602G>C)
n.517G>C
c.1477G>C (p.Val493Leu)
c.1663G>C (p.Val555Leu)
c.1192G>C (p.Val398Leu)
c.*26G>C (n.*26G>C)
17g.58273558C>TCA8670623MPOn.810G>A
c.602G>A (n.602G>A)
n.517G>A
c.1477G>A (p.Val493Ile)
c.1663G>A (p.Val555Ile)
c.1192G>A (p.Val398Ile)
c.*26G>A (n.*26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273559G>ACA8670624MPOn.809C>T
c.601C>T (n.601C>T)
n.516C>T
c.1476C>T (p.Asn492=)
c.1662C>T (p.Asn554=)
c.1191C>T (p.Asn397=)
c.*25C>T (n.*25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273559G>CCA292012331MPOn.809C>G
c.601C>G (n.601C>G)
n.516C>G
c.1476C>G (p.Asn492Lys)
c.1662C>G (p.Asn554Lys)
c.1191C>G (p.Asn397Lys)
c.*25C>G (n.*25C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.58273559G=CA2267631315MPOn.809C=
c.601C= (n.601C=)
n.516C=
c.1476C= (p.Asn492=)
c.1662C= (p.Asn554=)
c.1191C= (p.Asn397=)
c.*25C= (n.*25C=)
17g.58273559G>TCA400370208MPOn.809C>A
c.601C>A (n.601C>A)
n.516C>A
c.1476C>A (p.Asn492Lys)
c.1662C>A (p.Asn554Lys)
c.1191C>A (p.Asn397Lys)
c.*25C>A (n.*25C>A)
17g.58273560T>ACA400370209MPOn.808A>T
c.600A>T (n.600A>T)
n.515A>T
c.1475A>T (p.Asn492Ile)
c.1661A>T (p.Asn554Ile)
c.1190A>T (p.Asn397Ile)
c.*24A>T (n.*24A>T)
17g.58273560T>CCA8670625MPOn.808A>G
c.600A>G (n.600A>G)
n.515A>G
c.1475A>G (p.Asn492Ser)
c.1661A>G (p.Asn554Ser)
c.1190A>G (p.Asn397Ser)
c.*24A>G (n.*24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273560T>GCA400370211MPOn.808A>C
c.600A>C (n.600A>C)
n.515A>C
c.1475A>C (p.Asn492Thr)
c.1661A>C (p.Asn554Thr)
c.1190A>C (p.Asn397Thr)
c.*24A>C (n.*24A>C)
17g.58273560T=CA2267631316MPOn.808A=
c.600A= (n.600A=)
n.515A=
c.1475A= (p.Asn492=)
c.1661A= (p.Asn554=)
c.1190A= (p.Asn397=)
c.*24A= (n.*24A=)
17g.58273561T>ACA400370213MPOn.807A>T
c.599A>T (n.599A>T)
n.514A>T
c.1474A>T (p.Asn492Tyr)
c.1660A>T (p.Asn554Tyr)
c.1189A>T (p.Asn397Tyr)
c.*23A>T (n.*23A>T)
17g.58273561T>CCA400370214MPOn.807A>G
c.599A>G (n.599A>G)
n.514A>G
c.1474A>G (p.Asn492Asp)
c.1660A>G (p.Asn554Asp)
c.1189A>G (p.Asn397Asp)
c.*23A>G (n.*23A>G)
17g.58273561T>GCA400370216MPOn.807A>C
c.599A>C (n.599A>C)
n.514A>C
c.1474A>C (p.Asn492His)
c.1660A>C (p.Asn554His)
c.1189A>C (p.Asn397His)
c.*23A>C (n.*23A>C)
17g.58273562G>ACA501022888MPOn.806C>T
c.598C>T (n.598C>T)
n.513C>T
c.1473C>T (p.Ala491=)
c.1659C>T (p.Ala553=)
c.1188C>T (p.Ala396=)
c.*22C>T (n.*22C>T)
17g.58273562G>CCA501022891MPOn.806C>G
c.598C>G (n.598C>G)
n.513C>G
c.1473C>G (p.Ala491=)
c.1659C>G (p.Ala553=)
c.1188C>G (p.Ala396=)
c.*22C>G (n.*22C>G)
17g.58273562G>TCA501022892MPOn.806C>A
c.598C>A (n.598C>A)
n.513C>A
c.1473C>A (p.Ala491=)
c.1659C>A (p.Ala553=)
c.1188C>A (p.Ala396=)
c.*22C>A (n.*22C>A)
17g.58273562_58273567delinsGGCGATCA2267631317MPOn.801_806delinsATCGCC
c.593_598delinsATCGCC (n.593_598delinsATCGCC)
n.508_513delinsATCGCC
c.1468_1473delinsATCGCC (p.Ile490=)
c.1654_1659delinsATCGCC (p.Ile552=)
c.1183_1188delinsATCGCC (p.Ile395=)
c.*17_*22delinsATCGCC (n.*17_*22delinsATCGCC)
17g.58273563G>ACA400370218MPOn.805C>T
c.597C>T (n.597C>T)
n.512C>T
c.1472C>T (p.Ala491Val)
c.1658C>T (p.Ala553Val)
c.1187C>T (p.Ala396Val)
c.*21C>T (n.*21C>T)
 dbSNP
17g.58273563G>CCA400370220MPOn.805C>G
c.597C>G (n.597C>G)
n.512C>G
c.1472C>G (p.Ala491Gly)
c.1658C>G (p.Ala553Gly)
c.1187C>G (p.Ala396Gly)
c.*21C>G (n.*21C>G)
17g.58273563G=CA2267631318MPOn.805C=
c.597C= (n.597C=)
n.512C=
c.1472C= (p.Ala491=)
c.1658C= (p.Ala553=)
c.1187C= (p.Ala396=)
c.*21C= (n.*21C=)
17g.58273563G>TCA400370221MPOn.805C>A
c.597C>A (n.597C>A)
n.512C>A
c.1472C>A (p.Ala491Asp)
c.1658C>A (p.Ala553Asp)
c.1187C>A (p.Ala396Asp)
c.*21C>A (n.*21C>A)
17g.58273566_58273570delCA773506109MPOn.801_805del
c.593_597del (n.593_597del)
n.508_512del
c.1468_1472del (p.Ile490GlnfsTer?)
c.1654_1658del (p.Ile552GlnfsTer?)
c.1183_1187del (p.Ile395GlnfsTer?)
c.*17_*21del (n.*17_*21del)
 dbSNP
17g.58273564C>ACA400370222MPOn.804G>T
c.596G>T (n.596G>T)
n.511G>T
c.1471G>T (p.Ala491Ser)
c.1657G>T (p.Ala553Ser)
c.1186G>T (p.Ala396Ser)
c.*20G>T (n.*20G>T)
 dbSNP
17g.58273564C=CA2267631319MPOn.804G=
c.596G= (n.596G=)
n.511G=
c.1471G= (p.Ala491=)
c.1657G= (p.Ala553=)
c.1186G= (p.Ala396=)
c.*20G= (n.*20G=)
17g.58273564C>GCA400370223MPOn.804G>C
c.596G>C (n.596G>C)
n.511G>C
c.1471G>C (p.Ala491Pro)
c.1657G>C (p.Ala553Pro)
c.1186G>C (p.Ala396Pro)
c.*20G>C (n.*20G>C)
17g.58273564C>TCA8670626MPOn.804G>A
c.596G>A (n.596G>A)
n.511G>A
c.1471G>A (p.Ala491Thr)
c.1657G>A (p.Ala553Thr)
c.1186G>A (p.Ala396Thr)
c.*20G>A (n.*20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273565G>ACA8670627MPOn.803C>T
c.595C>T (n.595C>T)
n.510C>T
c.1470C>T (p.Ile490=)
c.1656C>T (p.Ile552=)
c.1185C>T (p.Ile395=)
c.*19C>T (n.*19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273565G>CCA400370226MPOn.803C>G
c.595C>G (n.595C>G)
n.510C>G
c.1470C>G (p.Ile490Met)
c.1656C>G (p.Ile552Met)
c.1185C>G (p.Ile395Met)
c.*19C>G (n.*19C>G)
17g.58273565G=CA2267631320MPOn.803C=
c.595C= (n.595C=)
n.510C=
c.1470C= (p.Ile490=)
c.1656C= (p.Ile552=)
c.1185C= (p.Ile395=)
c.*19C= (n.*19C=)
17g.58273565G>TCA8670628MPOn.803C>A
c.595C>A (n.595C>A)
n.510C>A
c.1470C>A (p.Ile490=)
c.1656C>A (p.Ile552=)
c.1185C>A (p.Ile395=)
c.*19C>A (n.*19C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273565_58273570dupCA2638968861MPOn.798_803dup
c.590_595dup (n.590_595dup)
n.505_510dup
c.1465_1470dup (p.Ile490_Ala491insArgIle)
c.1651_1656dup (p.Ile552_Ala553insArgIle)
c.1180_1185dup (p.Ile395_Ala396insArgIle)
c.*14_*19dup (n.*14_*19dup)
 gnomAD v4
17g.58273566A>CCA400370229MPOn.802T>G
c.594T>G (n.594T>G)
n.509T>G
c.1469T>G (p.Ile490Ser)
c.1655T>G (p.Ile552Ser)
c.1184T>G (p.Ile395Ser)
c.*18T>G (n.*18T>G)
17g.58273566A>GCA400370231MPOn.802T>C
c.594T>C (n.594T>C)
n.509T>C
c.1469T>C (p.Ile490Thr)
c.1655T>C (p.Ile552Thr)
c.1184T>C (p.Ile395Thr)
c.*18T>C (n.*18T>C)
17g.58273566A>TCA400370233MPOn.802T>A
c.594T>A (n.594T>A)
n.509T>A
c.1469T>A (p.Ile490Asn)
c.1655T>A (p.Ile552Asn)
c.1184T>A (p.Ile395Asn)
c.*18T>A (n.*18T>A)
17g.58273567T>ACA400370234MPOn.801A>T
c.593A>T (n.593A>T)
n.508A>T
c.1468A>T (p.Ile490Phe)
c.1654A>T (p.Ile552Phe)
c.1183A>T (p.Ile395Phe)
c.*17A>T (n.*17A>T)
17g.58273567T>CCA8670629MPOn.801A>G
c.593A>G (n.593A>G)
n.508A>G
c.1468A>G (p.Ile490Val)
c.1654A>G (p.Ile552Val)
c.1183A>G (p.Ile395Val)
c.*17A>G (n.*17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273567T>GCA400370236MPOn.801A>C
c.593A>C (n.593A>C)
n.508A>C
c.1468A>C (p.Ile490Leu)
c.1654A>C (p.Ile552Leu)
c.1183A>C (p.Ile395Leu)
c.*17A>C (n.*17A>C)
17g.58273567T=CA2267631321MPOn.801A=
c.593A= (n.593A=)
n.508A=
c.1468A= (p.Ile490=)
c.1654A= (p.Ile552=)
c.1183A= (p.Ile395=)
c.*17A= (n.*17A=)
17g.58273568G>ACA501022921MPOn.800C>T
c.592C>T (n.592C>T)
n.507C>T
c.1467C>T (p.Arg489=)
c.1653C>T (p.Arg551=)
c.1182C>T (p.Arg394=)
c.*16C>T (n.*16C>T)
17g.58273568G>CCA501022924MPOn.800C>G
c.592C>G (n.592C>G)
n.507C>G
c.1467C>G (p.Arg489=)
c.1653C>G (p.Arg551=)
c.1182C>G (p.Arg394=)
c.*16C>G (n.*16C>G)
17g.58273568G=CA2267631322MPOn.800C=
c.592C= (n.592C=)
n.507C=
c.1467C= (p.Arg489=)
c.1653C= (p.Arg551=)
c.1182C= (p.Arg394=)
c.*16C= (n.*16C=)
17g.58273568G>TCA8670630MPOn.800C>A
c.592C>A (n.592C>A)
n.507C>A
c.1467C>A (p.Arg489=)
c.1653C>A (p.Arg551=)
c.1182C>A (p.Arg394=)
c.*16C>A (n.*16C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273569C>ACA292012340MPOn.799G>T
c.591G>T (n.591G>T)
n.506G>T
c.1466G>T (p.Arg489Leu)
c.1652G>T (p.Arg551Leu)
c.1181G>T (p.Arg394Leu)
c.*15G>T (n.*15G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.58273569C=CA2267631323MPOn.799G=
c.591G= (n.591G=)
n.506G=
c.1466G= (p.Arg489=)
c.1652G= (p.Arg551=)
c.1181G= (p.Arg394=)
c.*15G= (n.*15G=)
17g.58273569C>GCA400370239MPOn.799G>C
c.591G>C (n.591G>C)
n.506G>C
c.1466G>C (p.Arg489Pro)
c.1652G>C (p.Arg551Pro)
c.1181G>C (p.Arg394Pro)
c.*15G>C (n.*15G>C)
17g.58273569C>TCA8670631MPOn.799G>A
c.591G>A (n.591G>A)
n.506G>A
c.1466G>A (p.Arg489His)
c.1652G>A (p.Arg551His)
c.1181G>A (p.Arg394His)
c.*15G>A (n.*15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273570G>ACA8670632MPOn.798C>T
c.590C>T (n.590C>T)
n.505C>T
c.1465C>T (p.Arg489Cys)
c.1651C>T (p.Arg551Cys)
c.1180C>T (p.Arg394Cys)
c.*14C>T (n.*14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273570G>CCA292012344MPOn.798C>G
c.590C>G (n.590C>G)
n.505C>G
c.1465C>G (p.Arg489Gly)
c.1651C>G (p.Arg551Gly)
c.1180C>G (p.Arg394Gly)
c.*14C>G (n.*14C>G)
 dbSNP gnomAD v4
17g.58273570G=CA2267631324MPOn.798C=
c.590C= (n.590C=)
n.505C=
c.1465C= (p.Arg489=)
c.1651C= (p.Arg551=)
c.1180C= (p.Arg394=)
c.*14C= (n.*14C=)
17g.58273570G>TCA400370241MPOn.798C>A
c.590C>A (n.590C>A)
n.505C>A
c.1465C>A (p.Arg489Ser)
c.1651C>A (p.Arg551Ser)
c.1180C>A (p.Arg394Ser)
c.*14C>A (n.*14C>A)
 dbSNP
17g.58273571_58273572delCA2638968896MPOn.797_798del
c.589_590del (n.589_590del)
n.504_505del
c.1464_1465del (p.Arg489HisfsTer?)
c.1650_1651del (p.Arg551HisfsTer?)
c.1179_1180del (p.Arg394HisfsTer?)
c.*13_*14del (n.*13_*14del)
 gnomAD v4
17g.58273571T>ACA501022932MPOn.797A>T
c.589A>T (n.589A>T)
n.504A>T
c.1464A>T (p.Pro488=)
c.1650A>T (p.Pro550=)
c.1179A>T (p.Pro393=)
c.*13A>T (n.*13A>T)
17g.58273571T>CCA501022934MPOn.797A>G
c.589A>G (n.589A>G)
n.504A>G
c.1464A>G (p.Pro488=)
c.1650A>G (p.Pro550=)
c.1179A>G (p.Pro393=)
c.*13A>G (n.*13A>G)
 gnomAD v4
17g.58273571T>GCA501022935MPOn.797A>C
c.589A>C (n.589A>C)
n.504A>C
c.1464A>C (p.Pro488=)
c.1650A>C (p.Pro550=)
c.1179A>C (p.Pro393=)
c.*13A>C (n.*13A>C)
17g.58273572G>ACA400370244MPOn.796C>T
c.588C>T (n.588C>T)
n.503C>T
c.1463C>T (p.Pro488Leu)
c.1649C>T (p.Pro550Leu)
c.1178C>T (p.Pro393Leu)
c.*12C>T (n.*12C>T)
17g.58273572G>CCA400370246MPOn.796C>G
c.588C>G (n.588C>G)
n.503C>G
c.1463C>G (p.Pro488Arg)
c.1649C>G (p.Pro550Arg)
c.1178C>G (p.Pro393Arg)
c.*12C>G (n.*12C>G)
17g.58273572G>TCA400370247MPOn.796C>A
c.588C>A (n.588C>A)
n.503C>A
c.1463C>A (p.Pro488Gln)
c.1649C>A (p.Pro550Gln)
c.1178C>A (p.Pro393Gln)
c.*12C>A (n.*12C>A)
17g.58273573G>ACA400370249MPOn.795C>T
c.587C>T (n.587C>T)
n.502C>T
c.1462C>T (p.Pro488Ser)
c.1648C>T (p.Pro550Ser)
c.1177C>T (p.Pro393Ser)
c.*11C>T (n.*11C>T)
17g.58273573G>CCA400370250MPOn.795C>G
c.587C>G (n.587C>G)
n.502C>G
c.1462C>G (p.Pro488Ala)
c.1648C>G (p.Pro550Ala)
c.1177C>G (p.Pro393Ala)
c.*11C>G (n.*11C>G)
17g.58273573G>TCA400370252MPOn.795C>A
c.587C>A (n.587C>A)
n.502C>A
c.1462C>A (p.Pro488Thr)
c.1648C>A (p.Pro550Thr)
c.1177C>A (p.Pro393Thr)
c.*11C>A (n.*11C>A)
17g.58273574G>ACA501022944MPOn.794C>T
c.586C>T (n.586C>T)
n.501C>T
c.1461C>T (p.Asp487=)
c.1647C>T (p.Asp549=)
c.1176C>T (p.Asp392=)
c.*10C>T (n.*10C>T)
17g.58273574G>CCA400370254MPOn.794C>G
c.586C>G (n.586C>G)
n.501C>G
c.1461C>G (p.Asp487Glu)
c.1647C>G (p.Asp549Glu)
c.1176C>G (p.Asp392Glu)
c.*10C>G (n.*10C>G)
17g.58273574G>TCA400370255MPOn.794C>A
c.586C>A (n.586C>A)
n.501C>A
c.1461C>A (p.Asp487Glu)
c.1647C>A (p.Asp549Glu)
c.1176C>A (p.Asp392Glu)
c.*10C>A (n.*10C>A)
17g.58273575T>ACA400370257MPOn.793A>T
c.585A>T (n.585A>T)
n.500A>T
c.1460A>T (p.Asp487Val)
c.1646A>T (p.Asp549Val)
c.1175A>T (p.Asp392Val)
c.*9A>T (n.*9A>T)
17g.58273575T>CCA400370259MPOn.793A>G
c.585A>G (n.585A>G)
n.500A>G
c.1460A>G (p.Asp487Gly)
c.1646A>G (p.Asp549Gly)
c.1175A>G (p.Asp392Gly)
c.*9A>G (n.*9A>G)
17g.58273575T>GCA400370260MPOn.793A>C
c.585A>C (n.585A>C)
n.500A>C
c.1460A>C (p.Asp487Ala)
c.1646A>C (p.Asp549Ala)
c.1175A>C (p.Asp392Ala)
c.*9A>C (n.*9A>C)
17g.58273576C>ACA400370261MPOn.792G>T
c.584G>T (n.584G>T)
n.499G>T
c.1459G>T (p.Asp487Tyr)
c.1645G>T (p.Asp549Tyr)
c.1174G>T (p.Asp392Tyr)
c.*8G>T (n.*8G>T)
17g.58273576C>GCA400370263MPOn.792G>C
c.584G>C (n.584G>C)
n.499G>C
c.1459G>C (p.Asp487His)
c.1645G>C (p.Asp549His)
c.1174G>C (p.Asp392His)
c.*8G>C (n.*8G>C)
17g.58273576C>TCA400370265MPOn.792G>A
c.584G>A (n.584G>A)
n.499G>A
c.1459G>A (p.Asp487Asn)
c.1645G>A (p.Asp549Asn)
c.1174G>A (p.Asp392Asn)
c.*8G>A (n.*8G>A)
17g.58273577C>ACA501022950MPOn.791G>T
c.583G>T (n.583G>T)
n.498G>T
c.1458G>T (p.Val486=)
c.1644G>T (p.Val548=)
c.1173G>T (p.Val391=)
c.*7G>T (n.*7G>T)
 gnomAD v4
17g.58273577C=CA2267631325MPOn.791G=
c.583G= (n.583G=)
n.498G=
c.1458G= (p.Val486=)
c.1644G= (p.Val548=)
c.1173G= (p.Val391=)
c.*7G= (n.*7G=)
17g.58273577C>GCA501022951MPOn.791G>C
c.583G>C (n.583G>C)
n.498G>C
c.1458G>C (p.Val486=)
c.1644G>C (p.Val548=)
c.1173G>C (p.Val391=)
c.*7G>C (n.*7G>C)
17g.58273577C>TCA8670633MPOn.791G>A
c.583G>A (n.583G>A)
n.498G>A
c.1458G>A (p.Val486=)
c.1644G>A (p.Val548=)
c.1173G>A (p.Val391=)
c.*7G>A (n.*7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273578A>CCA400370270MPOn.790T>G
c.582T>G (n.582T>G)
n.497T>G
c.1457T>G (p.Val486Gly)
c.1643T>G (p.Val548Gly)
c.1172T>G (p.Val391Gly)
c.*6T>G (n.*6T>G)
17g.58273578A>GCA400370267MPOn.790T>C
c.582T>C (n.582T>C)
n.497T>C
c.1457T>C (p.Val486Ala)
c.1643T>C (p.Val548Ala)
c.1172T>C (p.Val391Ala)
c.*6T>C (n.*6T>C)
17g.58273578A>TCA400370269MPOn.790T>A
c.582T>A (n.582T>A)
n.497T>A
c.1457T>A (p.Val486Glu)
c.1643T>A (p.Val548Glu)
c.1172T>A (p.Val391Glu)
c.*6T>A (n.*6T>A)
17g.58273579C>ACA400370272MPOn.789G>T
c.581G>T (n.581G>T)
n.496G>T
c.1456G>T (p.Val486Leu)
c.1642G>T (p.Val548Leu)
c.1171G>T (p.Val391Leu)
c.*5G>T (n.*5G>T)
17g.58273579C=CA2267631326MPOn.789G=
c.581G= (n.581G=)
n.496G=
c.1456G= (p.Val486=)
c.1642G= (p.Val548=)
c.1171G= (p.Val391=)
c.*5G= (n.*5G=)
17g.58273579C>GCA400370274MPOn.789G>C
c.581G>C (n.581G>C)
n.496G>C
c.1456G>C (p.Val486Leu)
c.1642G>C (p.Val548Leu)
c.1171G>C (p.Val391Leu)
c.*5G>C (n.*5G>C)
17g.58273579C>TCA8670634MPOn.789G>A
c.581G>A (n.581G>A)
n.496G>A
c.1456G>A (p.Val486Met)
c.1642G>A (p.Val548Met)
c.1171G>A (p.Val391Met)
c.*5G>A (n.*5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched