Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.63486991_63486993delCA2639263343ACEc.2223_2225del (p.Asn741del)
c.501_503del (p.Asn167del)
c.*293_*295del (n.*293_*295del)
c.404_406del (n.404_406del)
c.785_787del
c.*143_*145del (n.*143_*145del)
n.169_171del
c.1674_1676del (p.Asn558del)
c.561_563del (p.Asn187del)
c.1656_1658del (p.Asn552del)
c.1371_1373del (p.Asn457del)
c.153_155del (p.Asn51del)
n.523_525del
 gnomAD v4
17g.63486988C>ACA400556538ACEc.2220C>A (p.Tyr740Ter)
c.498C>A (p.Tyr166Ter)
c.*290C>A (n.*290C>A)
c.401C>A (n.401C>A)
c.782C>A
c.*140C>A (n.*140C>A)
n.166C>A
c.1671C>A (p.Tyr557Ter)
c.558C>A (p.Tyr186Ter)
c.1653C>A (p.Tyr551Ter)
c.1368C>A (p.Tyr456Ter)
c.150C>A (p.Tyr50Ter)
n.520C>A
 gnomAD v4
17g.63486988C>GCA400556540ACEc.2220C>G (p.Tyr740Ter)
c.498C>G (p.Tyr166Ter)
c.*290C>G (n.*290C>G)
c.401C>G (n.401C>G)
c.782C>G
c.*140C>G (n.*140C>G)
n.166C>G
c.1671C>G (p.Tyr557Ter)
c.558C>G (p.Tyr186Ter)
c.1653C>G (p.Tyr551Ter)
c.1368C>G (p.Tyr456Ter)
c.150C>G (p.Tyr50Ter)
n.520C>G
17g.63486988C>TCA501185233ACEc.2220C>T (p.Tyr740=)
c.498C>T (p.Tyr166=)
c.*290C>T (n.*290C>T)
c.401C>T (n.401C>T)
c.782C>T
c.*140C>T (n.*140C>T)
n.166C>T
c.1671C>T (p.Tyr557=)
c.558C>T (p.Tyr186=)
c.1653C>T (p.Tyr551=)
c.1368C>T (p.Tyr456=)
c.150C>T (p.Tyr50=)
n.520C>T
17g.63486989A=CA2269945053ACEc.2221A= (p.Asn741=)
c.499A= (p.Asn167=)
c.*291A= (n.*291A=)
c.402A= (n.402A=)
c.783A=
c.*141A= (n.*141A=)
n.167A=
c.1672A= (p.Asn558=)
c.559A= (p.Asn187=)
c.1654A= (p.Asn552=)
c.1369A= (p.Asn457=)
c.151A= (p.Asn51=)
n.521A=
17g.63486989A>CCA400556543ACEc.2221A>C (p.Asn741His)
c.499A>C (p.Asn167His)
c.*291A>C (n.*291A>C)
c.402A>C (n.402A>C)
c.783A>C
c.*141A>C (n.*141A>C)
n.167A>C
c.1672A>C (p.Asn558His)
c.559A>C (p.Asn187His)
c.1654A>C (p.Asn552His)
c.1369A>C (p.Asn457His)
c.151A>C (p.Asn51His)
n.521A>C
17g.63486989A>GCA400556548ACEc.2221A>G (p.Asn741Asp)
c.499A>G (p.Asn167Asp)
c.*291A>G (n.*291A>G)
c.402A>G (n.402A>G)
c.783A>G
c.*141A>G (n.*141A>G)
n.167A>G
c.1672A>G (p.Asn558Asp)
c.559A>G (p.Asn187Asp)
c.1654A>G (p.Asn552Asp)
c.1369A>G (p.Asn457Asp)
c.151A>G (p.Asn51Asp)
n.521A>G
 dbSNP gnomAD v4
17g.63486989A>TCA400556546ACEc.2221A>T (p.Asn741Tyr)
c.499A>T (p.Asn167Tyr)
c.*291A>T (n.*291A>T)
c.402A>T (n.402A>T)
c.783A>T
c.*141A>T (n.*141A>T)
n.167A>T
c.1672A>T (p.Asn558Tyr)
c.559A>T (p.Asn187Tyr)
c.1654A>T (p.Asn552Tyr)
c.1369A>T (p.Asn457Tyr)
c.151A>T (p.Asn51Tyr)
n.521A>T
17g.63486990A>CCA400556551ACEc.2222A>C (p.Asn741Thr)
c.500A>C (p.Asn167Thr)
c.*292A>C (n.*292A>C)
c.403A>C (n.403A>C)
c.784A>C
c.*142A>C (n.*142A>C)
n.168A>C
c.1673A>C (p.Asn558Thr)
c.560A>C (p.Asn187Thr)
c.1655A>C (p.Asn552Thr)
c.1370A>C (p.Asn457Thr)
c.152A>C (p.Asn51Thr)
n.522A>C
17g.63486990A>GCA400556554ACEc.2222A>G (p.Asn741Ser)
c.500A>G (p.Asn167Ser)
c.*292A>G (n.*292A>G)
c.403A>G (n.403A>G)
c.784A>G
c.*142A>G (n.*142A>G)
n.168A>G
c.1673A>G (p.Asn558Ser)
c.560A>G (p.Asn187Ser)
c.1655A>G (p.Asn552Ser)
c.1370A>G (p.Asn457Ser)
c.152A>G (p.Asn51Ser)
n.522A>G
 COSMIC COSMIC COSMIC
17g.63486990A>TCA400556556ACEc.2222A>T (p.Asn741Ile)
c.500A>T (p.Asn167Ile)
c.*292A>T (n.*292A>T)
c.403A>T (n.403A>T)
c.784A>T
c.*142A>T (n.*142A>T)
n.168A>T
c.1673A>T (p.Asn558Ile)
c.560A>T (p.Asn187Ile)
c.1655A>T (p.Asn552Ile)
c.1370A>T (p.Asn457Ile)
c.152A>T (p.Asn51Ile)
n.522A>T
17g.63486991C>ACA8699982ACEc.2223C>A (p.Asn741Lys)
c.501C>A (p.Asn167Lys)
c.*293C>A (n.*293C>A)
c.404C>A (n.404C>A)
c.785C>A
c.*143C>A (n.*143C>A)
n.169C>A
c.1674C>A (p.Asn558Lys)
c.561C>A (p.Asn187Lys)
c.1656C>A (p.Asn552Lys)
c.1371C>A (p.Asn457Lys)
c.153C>A (p.Asn51Lys)
n.523C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63486991C=CA2269945054ACEc.2223C= (p.Asn741=)
c.501C= (p.Asn167=)
c.*293C= (n.*293C=)
c.404C= (n.404C=)
c.785C=
c.*143C= (n.*143C=)
n.169C=
c.1674C= (p.Asn558=)
c.561C= (p.Asn187=)
c.1656C= (p.Asn552=)
c.1371C= (p.Asn457=)
c.153C= (p.Asn51=)
n.523C=
17g.63486991C>GCA400556560ACEc.2223C>G (p.Asn741Lys)
c.501C>G (p.Asn167Lys)
c.*293C>G (n.*293C>G)
c.404C>G (n.404C>G)
c.785C>G
c.*143C>G (n.*143C>G)
n.169C>G
c.1674C>G (p.Asn558Lys)
c.561C>G (p.Asn187Lys)
c.1656C>G (p.Asn552Lys)
c.1371C>G (p.Asn457Lys)
c.153C>G (p.Asn51Lys)
n.523C>G
17g.63486991C>TCA501185242ACEc.2223C>T (p.Asn741=)
c.501C>T (p.Asn167=)
c.*293C>T (n.*293C>T)
c.404C>T (n.404C>T)
c.785C>T
c.*143C>T (n.*143C>T)
n.169C>T
c.1674C>T (p.Asn558=)
c.561C>T (p.Asn187=)
c.1656C>T (p.Asn552=)
c.1371C>T (p.Asn457=)
c.153C>T (p.Asn51=)
n.523C>T
 gnomAD v4
17g.63486992A=CA2269945055ACEc.2224A= (p.Lys742=)
c.502A= (p.Lys168=)
c.*294A= (n.*294A=)
c.405A= (n.405A=)
c.786A=
c.*144A= (n.*144A=)
n.170A=
c.1675A= (p.Lys559=)
c.562A= (p.Lys188=)
c.1657A= (p.Lys553=)
c.1372A= (p.Lys458=)
c.154A= (p.Lys52=)
n.524A=
17g.63486992A>CCA400556562ACEc.2224A>C (p.Lys742Gln)
c.502A>C (p.Lys168Gln)
c.*294A>C (n.*294A>C)
c.405A>C (n.405A>C)
c.786A>C
c.*144A>C (n.*144A>C)
n.170A>C
c.1675A>C (p.Lys559Gln)
c.562A>C (p.Lys188Gln)
c.1657A>C (p.Lys553Gln)
c.1372A>C (p.Lys458Gln)
c.154A>C (p.Lys52Gln)
n.524A>C
17g.63486992A>GCA400556565ACEc.2224A>G (p.Lys742Glu)
c.502A>G (p.Lys168Glu)
c.*294A>G (n.*294A>G)
c.405A>G (n.405A>G)
c.786A>G
c.*144A>G (n.*144A>G)
n.170A>G
c.1675A>G (p.Lys559Glu)
c.562A>G (p.Lys188Glu)
c.1657A>G (p.Lys553Glu)
c.1372A>G (p.Lys458Glu)
c.154A>G (p.Lys52Glu)
n.524A>G
 dbSNP gnomAD v3 gnomAD v4
17g.63486992A>TCA400556566ACEc.2224A>T (p.Lys742Ter)
c.502A>T (p.Lys168Ter)
c.*294A>T (n.*294A>T)
c.405A>T (n.405A>T)
c.786A>T
c.*144A>T (n.*144A>T)
n.170A>T
c.1675A>T (p.Lys559Ter)
c.562A>T (p.Lys188Ter)
c.1657A>T (p.Lys553Ter)
c.1372A>T (p.Lys458Ter)
c.154A>T (p.Lys52Ter)
n.524A>T
17g.63486993A=CA2269945056ACEc.2225A= (p.Lys742=)
c.503A= (p.Lys168=)
c.*295A= (n.*295A=)
c.406A= (n.406A=)
c.787A=
c.*145A= (n.*145A=)
n.171A=
c.1676A= (p.Lys559=)
c.563A= (p.Lys188=)
c.1658A= (p.Lys553=)
c.1373A= (p.Lys458=)
c.155A= (p.Lys52=)
n.525A=
17g.63486993A>CCA400556570ACEc.2225A>C (p.Lys742Thr)
c.503A>C (p.Lys168Thr)
c.*295A>C (n.*295A>C)
c.406A>C (n.406A>C)
c.787A>C
c.*145A>C (n.*145A>C)
n.171A>C
c.1676A>C (p.Lys559Thr)
c.563A>C (p.Lys188Thr)
c.1658A>C (p.Lys553Thr)
c.1373A>C (p.Lys458Thr)
c.155A>C (p.Lys52Thr)
n.525A>C
17g.63486993A>GCA400556571ACEc.2225A>G (p.Lys742Arg)
c.503A>G (p.Lys168Arg)
c.*295A>G (n.*295A>G)
c.406A>G (n.406A>G)
c.787A>G
c.*145A>G (n.*145A>G)
n.171A>G
c.1676A>G (p.Lys559Arg)
c.563A>G (p.Lys188Arg)
c.1658A>G (p.Lys553Arg)
c.1373A>G (p.Lys458Arg)
c.155A>G (p.Lys52Arg)
n.525A>G
 dbSNP gnomAD v3 gnomAD v4
17g.63486993A>TCA400556573ACEc.2225A>T (p.Lys742Met)
c.503A>T (p.Lys168Met)
c.*295A>T (n.*295A>T)
c.406A>T (n.406A>T)
c.787A>T
c.*145A>T (n.*145A>T)
n.171A>T
c.1676A>T (p.Lys559Met)
c.563A>T (p.Lys188Met)
c.1658A>T (p.Lys553Met)
c.1373A>T (p.Lys458Met)
c.155A>T (p.Lys52Met)
n.525A>T
17g.63486994G>ACA501185255ACEc.2226G>A (p.Lys742=)
c.504G>A (p.Lys168=)
c.*296G>A (n.*296G>A)
c.407G>A (n.407G>A)
c.788G>A
c.*146G>A (n.*146G>A)
n.172G>A
c.1677G>A (p.Lys559=)
c.564G>A (p.Lys188=)
c.1659G>A (p.Lys553=)
c.1374G>A (p.Lys458=)
c.156G>A (p.Lys52=)
n.526G>A
 dbSNP gnomAD v2 gnomAD v4
17g.63486994G>CCA400556578ACEc.2226G>C (p.Lys742Asn)
c.504G>C (p.Lys168Asn)
c.*296G>C (n.*296G>C)
c.407G>C (n.407G>C)
c.788G>C
c.*146G>C (n.*146G>C)
n.172G>C
c.1677G>C (p.Lys559Asn)
c.564G>C (p.Lys188Asn)
c.1659G>C (p.Lys553Asn)
c.1374G>C (p.Lys458Asn)
c.156G>C (p.Lys52Asn)
n.526G>C
17g.63486994G=CA2269945057ACEc.2226G= (p.Lys742=)
c.504G= (p.Lys168=)
c.*296G= (n.*296G=)
c.407G= (n.407G=)
c.788G=
c.*146G= (n.*146G=)
n.172G=
c.1677G= (p.Lys559=)
c.564G= (p.Lys188=)
c.1659G= (p.Lys553=)
c.1374G= (p.Lys458=)
c.156G= (p.Lys52=)
n.526G=
17g.63486994G>TCA400556580ACEc.2226G>T (p.Lys742Asn)
c.504G>T (p.Lys168Asn)
c.*296G>T (n.*296G>T)
c.407G>T (n.407G>T)
c.788G>T
c.*146G>T (n.*146G>T)
n.172G>T
c.1677G>T (p.Lys559Asn)
c.564G>T (p.Lys188Asn)
c.1659G>T (p.Lys553Asn)
c.1374G>T (p.Lys458Asn)
c.156G>T (p.Lys52Asn)
n.526G>T
17g.63486995A>CCA400556588ACEc.2227A>C (p.Ile743Leu)
c.505A>C (p.Ile169Leu)
c.*297A>C (n.*297A>C)
c.408A>C (n.408A>C)
c.789A>C
c.*147A>C (n.*147A>C)
n.173A>C
c.1678A>C (p.Ile560Leu)
c.565A>C (p.Ile189Leu)
c.1660A>C (p.Ile554Leu)
c.1375A>C (p.Ile459Leu)
c.157A>C (p.Ile53Leu)
n.527A>C
17g.63486995A>GCA400556583ACEc.2227A>G (p.Ile743Val)
c.505A>G (p.Ile169Val)
c.*297A>G (n.*297A>G)
c.408A>G (n.408A>G)
c.789A>G
c.*147A>G (n.*147A>G)
n.173A>G
c.1678A>G (p.Ile560Val)
c.565A>G (p.Ile189Val)
c.1660A>G (p.Ile554Val)
c.1375A>G (p.Ile459Val)
c.157A>G (p.Ile53Val)
n.527A>G
17g.63486995A>TCA400556586ACEc.2227A>T (p.Ile743Phe)
c.505A>T (p.Ile169Phe)
c.*297A>T (n.*297A>T)
c.408A>T (n.408A>T)
c.789A>T
c.*147A>T (n.*147A>T)
n.173A>T
c.1678A>T (p.Ile560Phe)
c.565A>T (p.Ile189Phe)
c.1660A>T (p.Ile554Phe)
c.1375A>T (p.Ile459Phe)
c.157A>T (p.Ile53Phe)
n.527A>T
17g.63486996T>ACA400556592ACEc.2228T>A (p.Ile743Asn)
c.506T>A (p.Ile169Asn)
c.*298T>A (n.*298T>A)
c.409T>A (n.409T>A)
c.790T>A
c.*148T>A (n.*148T>A)
n.174T>A
c.1679T>A (p.Ile560Asn)
c.566T>A (p.Ile189Asn)
c.1661T>A (p.Ile554Asn)
c.1376T>A (p.Ile459Asn)
c.158T>A (p.Ile53Asn)
n.528T>A
17g.63486996T>CCA400556595ACEc.2228T>C (p.Ile743Thr)
c.506T>C (p.Ile169Thr)
c.*298T>C (n.*298T>C)
c.409T>C (n.409T>C)
c.790T>C
c.*148T>C (n.*148T>C)
n.174T>C
c.1679T>C (p.Ile560Thr)
c.566T>C (p.Ile189Thr)
c.1661T>C (p.Ile554Thr)
c.1376T>C (p.Ile459Thr)
c.158T>C (p.Ile53Thr)
n.528T>C
17g.63486996T>GCA400556599ACEc.2228T>G (p.Ile743Ser)
c.506T>G (p.Ile169Ser)
c.*298T>G (n.*298T>G)
c.409T>G (n.409T>G)
c.790T>G
c.*148T>G (n.*148T>G)
n.174T>G
c.1679T>G (p.Ile560Ser)
c.566T>G (p.Ile189Ser)
c.1661T>G (p.Ile554Ser)
c.1376T>G (p.Ile459Ser)
c.158T>G (p.Ile53Ser)
n.528T>G
17g.63486996_63486997delinsTCCA2269945058ACEc.2228_2229delinsTC (p.Ile743=)
c.506_507delinsTC (p.Ile169=)
c.*298_*299delinsTC (n.*298_*299delinsTC)
c.409_410delinsTC (n.409_410delinsTC)
c.790_791delinsTC
c.*148_*149delinsTC (n.*148_*149delinsTC)
n.174_175delinsTC
c.1679_1680delinsTC (p.Ile560=)
c.566_567delinsTC (p.Ile189=)
c.1661_1662delinsTC (p.Ile554=)
c.1376_1377delinsTC (p.Ile459=)
c.158_159delinsTC (p.Ile53=)
n.528_529delinsTC
17g.63486997C>ACA501185272ACEc.2229C>A (p.Ile743=)
c.507C>A (p.Ile169=)
c.*299C>A (n.*299C>A)
c.410C>A (n.410C>A)
c.791C>A
c.*149C>A (n.*149C>A)
n.175C>A
c.1680C>A (p.Ile560=)
c.567C>A (p.Ile189=)
c.1662C>A (p.Ile554=)
c.1377C>A (p.Ile459=)
c.159C>A (p.Ile53=)
n.529C>A
17g.63486997C=CA2269945059ACEc.2229C= (p.Ile743=)
c.507C= (p.Ile169=)
c.*299C= (n.*299C=)
c.410C= (n.410C=)
c.791C=
c.*149C= (n.*149C=)
n.175C=
c.1680C= (p.Ile560=)
c.567C= (p.Ile189=)
c.1662C= (p.Ile554=)
c.1377C= (p.Ile459=)
c.159C= (p.Ile53=)
n.529C=
17g.63486997C>GCA400556602ACEc.2229C>G (p.Ile743Met)
c.507C>G (p.Ile169Met)
c.*299C>G (n.*299C>G)
c.410C>G (n.410C>G)
c.791C>G
c.*149C>G (n.*149C>G)
n.175C>G
c.1680C>G (p.Ile560Met)
c.567C>G (p.Ile189Met)
c.1662C>G (p.Ile554Met)
c.1377C>G (p.Ile459Met)
c.159C>G (p.Ile53Met)
n.529C>G
 dbSNP gnomAD v2 gnomAD v4
17g.63486997C>TCA501185270ACEc.2229C>T (p.Ile743=)
c.507C>T (p.Ile169=)
c.*299C>T (n.*299C>T)
c.410C>T (n.410C>T)
c.791C>T
c.*149C>T (n.*149C>T)
n.175C>T
c.1680C>T (p.Ile560=)
c.567C>T (p.Ile189=)
c.1662C>T (p.Ile554=)
c.1377C>T (p.Ile459=)
c.159C>T (p.Ile53=)
n.529C>T
 gnomAD v4
17g.63486998delCA8699983ACEc.2230del (p.Leu744CysfsTer27)
c.508del (p.Leu170CysfsTer27)
c.*300del (n.*300del)
c.411del (n.411del)
c.792del
c.*150del (n.*150del)
n.176del
c.1681del (p.Leu561CysfsTer27)
c.568del (p.Leu190CysfsTer27)
c.1663del (p.Leu555CysfsTer27)
c.1378del (p.Leu460CysfsTer27)
c.160del (p.Leu54CysfsTer27)
n.530del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63486998C>ACA400556606ACEc.2230C>A (p.Leu744Met)
c.508C>A (p.Leu170Met)
c.*300C>A (n.*300C>A)
c.411C>A (n.411C>A)
c.792C>A
c.*150C>A (n.*150C>A)
n.176C>A
c.1681C>A (p.Leu561Met)
c.568C>A (p.Leu190Met)
c.1663C>A (p.Leu555Met)
c.1378C>A (p.Leu460Met)
c.160C>A (p.Leu54Met)
n.530C>A
17g.63486998C>GCA400556607ACEc.2230C>G (p.Leu744Val)
c.508C>G (p.Leu170Val)
c.*300C>G (n.*300C>G)
c.411C>G (n.411C>G)
c.792C>G
c.*150C>G (n.*150C>G)
n.176C>G
c.1681C>G (p.Leu561Val)
c.568C>G (p.Leu190Val)
c.1663C>G (p.Leu555Val)
c.1378C>G (p.Leu460Val)
c.160C>G (p.Leu54Val)
n.530C>G
17g.63486998C>TCA501185276ACEc.2230C>T (p.Leu744=)
c.508C>T (p.Leu170=)
c.*300C>T (n.*300C>T)
c.411C>T (n.411C>T)
c.792C>T
c.*150C>T (n.*150C>T)
n.176C>T
c.1681C>T (p.Leu561=)
c.568C>T (p.Leu190=)
c.1663C>T (p.Leu555=)
c.1378C>T (p.Leu460=)
c.160C>T (p.Leu54=)
n.530C>T
17g.63486999T>ACA400556608ACEc.2231T>A (p.Leu744Gln)
c.509T>A (p.Leu170Gln)
c.*301T>A (n.*301T>A)
c.412T>A (n.412T>A)
c.793T>A
c.*151T>A (n.*151T>A)
n.177T>A
c.1682T>A (p.Leu561Gln)
c.569T>A (p.Leu190Gln)
c.1664T>A (p.Leu555Gln)
c.1379T>A (p.Leu460Gln)
c.161T>A (p.Leu54Gln)
n.531T>A
 gnomAD v4
17g.63486999T>CCA400556609ACEc.2231T>C (p.Leu744Pro)
c.509T>C (p.Leu170Pro)
c.*301T>C (n.*301T>C)
c.412T>C (n.412T>C)
c.793T>C
c.*151T>C (n.*151T>C)
n.177T>C
c.1682T>C (p.Leu561Pro)
c.569T>C (p.Leu190Pro)
c.1664T>C (p.Leu555Pro)
c.1379T>C (p.Leu460Pro)
c.161T>C (p.Leu54Pro)
n.531T>C
17g.63486999T>GCA400556610ACEc.2231T>G (p.Leu744Arg)
c.509T>G (p.Leu170Arg)
c.*301T>G (n.*301T>G)
c.412T>G (n.412T>G)
c.793T>G
c.*151T>G (n.*151T>G)
n.177T>G
c.1682T>G (p.Leu561Arg)
c.569T>G (p.Leu190Arg)
c.1664T>G (p.Leu555Arg)
c.1379T>G (p.Leu460Arg)
c.161T>G (p.Leu54Arg)
n.531T>G
17g.63487000G>ACA501185282ACEc.2232G>A (p.Leu744=)
c.510G>A (p.Leu170=)
c.*302G>A (n.*302G>A)
c.413G>A (n.413G>A)
c.794G>A
c.*152G>A (n.*152G>A)
n.178G>A
c.1683G>A (p.Leu561=)
c.570G>A (p.Leu190=)
c.1665G>A (p.Leu555=)
c.1380G>A (p.Leu460=)
c.162G>A (p.Leu54=)
n.532G>A
 dbSNP
17g.63487000G>CCA501185284ACEc.2232G>C (p.Leu744=)
c.510G>C (p.Leu170=)
c.*302G>C (n.*302G>C)
c.413G>C (n.413G>C)
c.794G>C
c.*152G>C (n.*152G>C)
n.178G>C
c.1683G>C (p.Leu561=)
c.570G>C (p.Leu190=)
c.1665G>C (p.Leu555=)
c.1380G>C (p.Leu460=)
c.162G>C (p.Leu54=)
n.532G>C
17g.63487000G=CA2269945060ACEc.2232G= (p.Leu744=)
c.510G= (p.Leu170=)
c.*302G= (n.*302G=)
c.413G= (n.413G=)
c.794G=
c.*152G= (n.*152G=)
n.178G=
c.1683G= (p.Leu561=)
c.570G= (p.Leu190=)
c.1665G= (p.Leu555=)
c.1380G= (p.Leu460=)
c.162G= (p.Leu54=)
n.532G=
17g.63487000G>TCA501185286ACEc.2232G>T (p.Leu744=)
c.510G>T (p.Leu170=)
c.*302G>T (n.*302G>T)
c.413G>T (n.413G>T)
c.794G>T
c.*152G>T (n.*152G>T)
n.178G>T
c.1683G>T (p.Leu561=)
c.570G>T (p.Leu190=)
c.1665G>T (p.Leu555=)
c.1380G>T (p.Leu460=)
c.162G>T (p.Leu54=)
n.532G>T
17g.63487001T>ACA400556613ACEc.2233T>A (p.Leu745Met)
c.511T>A (p.Leu171Met)
c.*303T>A (n.*303T>A)
c.414T>A (n.414T>A)
c.795T>A
c.*153T>A (n.*153T>A)
c.1T>A (p.Leu1Met)
n.179T>A
c.1684T>A (p.Leu562Met)
c.571T>A (p.Leu191Met)
c.1666T>A (p.Leu556Met)
c.1381T>A (p.Leu461Met)
c.163T>A (p.Leu55Met)
n.533T>A
17g.63487001T>CCA501185290ACEc.2233T>C (p.Leu745=)
c.511T>C (p.Leu171=)
c.*303T>C (n.*303T>C)
c.414T>C (n.414T>C)
c.795T>C
c.*153T>C (n.*153T>C)
c.1T>C (p.Leu1=)
n.179T>C
c.1684T>C (p.Leu562=)
c.571T>C (p.Leu191=)
c.1666T>C (p.Leu556=)
c.1381T>C (p.Leu461=)
c.163T>C (p.Leu55=)
n.533T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63487001T>GCA400556615ACEc.2233T>G (p.Leu745Val)
c.511T>G (p.Leu171Val)
c.*303T>G (n.*303T>G)
c.414T>G (n.414T>G)
c.795T>G
c.*153T>G (n.*153T>G)
c.1T>G (p.Leu1Val)
n.179T>G
c.1684T>G (p.Leu562Val)
c.571T>G (p.Leu191Val)
c.1666T>G (p.Leu556Val)
c.1381T>G (p.Leu461Val)
c.163T>G (p.Leu55Val)
n.533T>G
17g.63487001T=CA2269945061ACEc.2233T= (p.Leu745=)
c.511T= (p.Leu171=)
c.*303T= (n.*303T=)
c.414T= (n.414T=)
c.795T=
c.*153T= (n.*153T=)
c.1T= (p.Leu1=)
n.179T=
c.1684T= (p.Leu562=)
c.571T= (p.Leu191=)
c.1666T= (p.Leu556=)
c.1381T= (p.Leu461=)
c.163T= (p.Leu55=)
n.533T=
17g.63487002T>ACA400556622ACEc.2234T>A (p.Leu745Ter)
c.512T>A (p.Leu171Ter)
c.*304T>A (n.*304T>A)
c.415T>A (n.415T>A)
c.796T>A
c.*154T>A (n.*154T>A)
c.2T>A (p.Leu1Ter)
n.180T>A
c.1685T>A (p.Leu562Ter)
c.572T>A (p.Leu191Ter)
c.1667T>A (p.Leu556Ter)
c.1382T>A (p.Leu461Ter)
c.164T>A (p.Leu55Ter)
n.534T>A
17g.63487002T>CCA400556626ACEc.2234T>C (p.Leu745Ser)
c.512T>C (p.Leu171Ser)
c.*304T>C (n.*304T>C)
c.415T>C (n.415T>C)
c.796T>C
c.*154T>C (n.*154T>C)
c.2T>C (p.Leu1Ser)
n.180T>C
c.1685T>C (p.Leu562Ser)
c.572T>C (p.Leu191Ser)
c.1667T>C (p.Leu556Ser)
c.1382T>C (p.Leu461Ser)
c.164T>C (p.Leu55Ser)
n.534T>C
 gnomAD v4
17g.63487002T>GCA400556618ACEc.2234T>G (p.Leu745Trp)
c.512T>G (p.Leu171Trp)
c.*304T>G (n.*304T>G)
c.415T>G (n.415T>G)
c.796T>G
c.*154T>G (n.*154T>G)
c.2T>G (p.Leu1Trp)
n.180T>G
c.1685T>G (p.Leu562Trp)
c.572T>G (p.Leu191Trp)
c.1667T>G (p.Leu556Trp)
c.1382T>G (p.Leu461Trp)
c.164T>G (p.Leu55Trp)
n.534T>G
17g.63487003G>ACA292881812ACEc.2235G>A (p.Leu745=)
c.513G>A (p.Leu171=)
c.*305G>A (n.*305G>A)
c.416G>A (n.416G>A)
c.797G>A
c.*155G>A (n.*155G>A)
c.3G>A (p.Leu1=)
n.181G>A
c.1686G>A (p.Leu562=)
c.573G>A (p.Leu191=)
c.1668G>A (p.Leu556=)
c.1383G>A (p.Leu461=)
c.165G>A (p.Leu55=)
n.535G>A
 dbSNP
17g.63487003G>CCA400556629ACEc.2235G>C (p.Leu745Phe)
c.513G>C (p.Leu171Phe)
c.*305G>C (n.*305G>C)
c.416G>C (n.416G>C)
c.797G>C
c.*155G>C (n.*155G>C)
c.3G>C (p.Leu1Phe)
n.181G>C
c.1686G>C (p.Leu562Phe)
c.573G>C (p.Leu191Phe)
c.1668G>C (p.Leu556Phe)
c.1383G>C (p.Leu461Phe)
c.165G>C (p.Leu55Phe)
n.535G>C
17g.63487003G=CA2269945062ACEc.2235G= (p.Leu745=)
c.513G= (p.Leu171=)
c.*305G= (n.*305G=)
c.416G= (n.416G=)
c.797G=
c.*155G= (n.*155G=)
c.3G= (p.Leu1=)
n.181G=
c.1686G= (p.Leu562=)
c.573G= (p.Leu191=)
c.1668G= (p.Leu556=)
c.1383G= (p.Leu461=)
c.165G= (p.Leu55=)
n.535G=
17g.63487003G>TCA400556630ACEc.2235G>T (p.Leu745Phe)
c.513G>T (p.Leu171Phe)
c.*305G>T (n.*305G>T)
c.416G>T (n.416G>T)
c.797G>T
c.*155G>T (n.*155G>T)
c.3G>T (p.Leu1Phe)
n.181G>T
c.1686G>T (p.Leu562Phe)
c.573G>T (p.Leu191Phe)
c.1668G>T (p.Leu556Phe)
c.1383G>T (p.Leu461Phe)
c.165G>T (p.Leu55Phe)
n.535G>T
17g.63487004G>ACA400556632ACEc.2236G>A (p.Asp746Asn)
c.514G>A (p.Asp172Asn)
c.*306G>A (n.*306G>A)
c.417G>A (n.417G>A)
c.798G>A
c.*156G>A (n.*156G>A)
c.4G>A (p.Asp2Asn)
n.182G>A
c.1687G>A (p.Asp563Asn)
c.574G>A (p.Asp192Asn)
c.1669G>A (p.Asp557Asn)
c.1384G>A (p.Asp462Asn)
c.166G>A (p.Asp56Asn)
n.536G>A
 ClinVar gnomAD v4
17g.63487004G>CCA400556634ACEc.2236G>C (p.Asp746His)
c.514G>C (p.Asp172His)
c.*306G>C (n.*306G>C)
c.417G>C (n.417G>C)
c.798G>C
c.*156G>C (n.*156G>C)
c.4G>C (p.Asp2His)
n.182G>C
c.1687G>C (p.Asp563His)
c.574G>C (p.Asp192His)
c.1669G>C (p.Asp557His)
c.1384G>C (p.Asp462His)
c.166G>C (p.Asp56His)
n.536G>C
17g.63487004G>TCA400556633ACEc.2236G>T (p.Asp746Tyr)
c.514G>T (p.Asp172Tyr)
c.*306G>T (n.*306G>T)
c.417G>T (n.417G>T)
c.798G>T
c.*156G>T (n.*156G>T)
c.4G>T (p.Asp2Tyr)
n.182G>T
c.1687G>T (p.Asp563Tyr)
c.574G>T (p.Asp192Tyr)
c.1669G>T (p.Asp557Tyr)
c.1384G>T (p.Asp462Tyr)
c.166G>T (p.Asp56Tyr)
n.536G>T
17g.63487005A>CCA400556636ACEc.2237A>C (p.Asp746Ala)
c.515A>C (p.Asp172Ala)
c.*307A>C (n.*307A>C)
c.418A>C (n.418A>C)
c.799A>C
c.*157A>C (n.*157A>C)
c.5A>C (p.Asp2Ala)
n.183A>C
c.1688A>C (p.Asp563Ala)
c.575A>C (p.Asp192Ala)
c.1670A>C (p.Asp557Ala)
c.1385A>C (p.Asp462Ala)
c.167A>C (p.Asp56Ala)
n.537A>C
17g.63487005A>GCA400556641ACEc.2237A>G (p.Asp746Gly)
c.515A>G (p.Asp172Gly)
c.*307A>G (n.*307A>G)
c.418A>G (n.418A>G)
c.799A>G
c.*157A>G (n.*157A>G)
c.5A>G (p.Asp2Gly)
n.183A>G
c.1688A>G (p.Asp563Gly)
c.575A>G (p.Asp192Gly)
c.1670A>G (p.Asp557Gly)
c.1385A>G (p.Asp462Gly)
c.167A>G (p.Asp56Gly)
n.537A>G
17g.63487005A>TCA400556638ACEc.2237A>T (p.Asp746Val)
c.515A>T (p.Asp172Val)
c.*307A>T (n.*307A>T)
c.418A>T (n.418A>T)
c.799A>T
c.*157A>T (n.*157A>T)
c.5A>T (p.Asp2Val)
n.183A>T
c.1688A>T (p.Asp563Val)
c.575A>T (p.Asp192Val)
c.1670A>T (p.Asp557Val)
c.1385A>T (p.Asp462Val)
c.167A>T (p.Asp56Val)
n.537A>T
17g.63487006T>ACA400556644ACEc.2238T>A (p.Asp746Glu)
c.516T>A (p.Asp172Glu)
c.*308T>A (n.*308T>A)
c.419T>A (n.419T>A)
c.800T>A
c.*158T>A (n.*158T>A)
c.6T>A (p.Asp2Glu)
n.184T>A
c.1689T>A (p.Asp563Glu)
c.576T>A (p.Asp192Glu)
c.1671T>A (p.Asp557Glu)
c.1386T>A (p.Asp462Glu)
c.168T>A (p.Asp56Glu)
n.538T>A
17g.63487006T>CCA292881819ACEc.2238T>C (p.Asp746=)
c.516T>C (p.Asp172=)
c.*308T>C (n.*308T>C)
c.419T>C (n.419T>C)
c.800T>C
c.*158T>C (n.*158T>C)
c.6T>C (p.Asp2=)
n.184T>C
c.1689T>C (p.Asp563=)
c.576T>C (p.Asp192=)
c.1671T>C (p.Asp557=)
c.1386T>C (p.Asp462=)
c.168T>C (p.Asp56=)
n.538T>C
 dbSNP gnomAD v4
17g.63487006T>GCA400556647ACEc.2238T>G (p.Asp746Glu)
c.516T>G (p.Asp172Glu)
c.*308T>G (n.*308T>G)
c.419T>G (n.419T>G)
c.800T>G
c.*158T>G (n.*158T>G)
c.6T>G (p.Asp2Glu)
n.184T>G
c.1689T>G (p.Asp563Glu)
c.576T>G (p.Asp192Glu)
c.1671T>G (p.Asp557Glu)
c.1386T>G (p.Asp462Glu)
c.168T>G (p.Asp56Glu)
n.538T>G
17g.63487006T=CA2269945063ACEc.2238T= (p.Asp746=)
c.516T= (p.Asp172=)
c.*308T= (n.*308T=)
c.419T= (n.419T=)
c.800T=
c.*158T= (n.*158T=)
c.6T= (p.Asp2=)
n.184T=
c.1689T= (p.Asp563=)
c.576T= (p.Asp192=)
c.1671T= (p.Asp557=)
c.1386T= (p.Asp462=)
c.168T= (p.Asp56=)
n.538T=
17g.63487007A>CCA400556650ACEc.2239A>C (p.Met747Leu)
c.517A>C (p.Met173Leu)
c.*309A>C (n.*309A>C)
c.420A>C (n.420A>C)
c.801A>C
c.*159A>C (n.*159A>C)
c.7A>C (p.Met3Leu)
n.185A>C
c.1690A>C (p.Met564Leu)
c.577A>C (p.Met193Leu)
c.1672A>C (p.Met558Leu)
c.1387A>C (p.Met463Leu)
c.169A>C (p.Met57Leu)
n.539A>C
17g.63487007A>GCA400556653ACEc.2239A>G (p.Met747Val)
c.517A>G (p.Met173Val)
c.*309A>G (n.*309A>G)
c.420A>G (n.420A>G)
c.801A>G
c.*159A>G (n.*159A>G)
c.7A>G (p.Met3Val)
n.185A>G
c.1690A>G (p.Met564Val)
c.577A>G (p.Met193Val)
c.1672A>G (p.Met558Val)
c.1387A>G (p.Met463Val)
c.169A>G (p.Met57Val)
n.539A>G
17g.63487007A>TCA400556662ACEc.2239A>T (p.Met747Leu)
c.517A>T (p.Met173Leu)
c.*309A>T (n.*309A>T)
c.420A>T (n.420A>T)
c.801A>T
c.*159A>T (n.*159A>T)
c.7A>T (p.Met3Leu)
n.185A>T
c.1690A>T (p.Met564Leu)
c.577A>T (p.Met193Leu)
c.1672A>T (p.Met558Leu)
c.1387A>T (p.Met463Leu)
c.169A>T (p.Met57Leu)
n.539A>T
17g.63487008T>ACA400556667ACEc.2240T>A (p.Met747Lys)
c.518T>A (p.Met173Lys)
c.*310T>A (n.*310T>A)
c.421T>A (n.421T>A)
c.802T>A
c.*160T>A (n.*160T>A)
c.8T>A (p.Met3Lys)
n.186T>A
c.1691T>A (p.Met564Lys)
c.578T>A (p.Met193Lys)
c.1673T>A (p.Met558Lys)
c.1388T>A (p.Met463Lys)
c.170T>A (p.Met57Lys)
n.540T>A
17g.63487008T>CCA400556671ACEc.2240T>C (p.Met747Thr)
c.518T>C (p.Met173Thr)
c.*310T>C (n.*310T>C)
c.421T>C (n.421T>C)
c.802T>C
c.*160T>C (n.*160T>C)
c.8T>C (p.Met3Thr)
n.186T>C
c.1691T>C (p.Met564Thr)
c.578T>C (p.Met193Thr)
c.1673T>C (p.Met558Thr)
c.1388T>C (p.Met463Thr)
c.170T>C (p.Met57Thr)
n.540T>C
 dbSNP gnomAD v4
17g.63487008T>GCA400556674ACEc.2240T>G (p.Met747Arg)
c.518T>G (p.Met173Arg)
c.*310T>G (n.*310T>G)
c.421T>G (n.421T>G)
c.802T>G
c.*160T>G (n.*160T>G)
c.8T>G (p.Met3Arg)
n.186T>G
c.1691T>G (p.Met564Arg)
c.578T>G (p.Met193Arg)
c.1673T>G (p.Met558Arg)
c.1388T>G (p.Met463Arg)
c.170T>G (p.Met57Arg)
n.540T>G
17g.63487008T=CA2269945064ACEc.2240T= (p.Met747=)
c.518T= (p.Met173=)
c.*310T= (n.*310T=)
c.421T= (n.421T=)
c.802T=
c.*160T= (n.*160T=)
c.8T= (p.Met3=)
n.186T=
c.1691T= (p.Met564=)
c.578T= (p.Met193=)
c.1673T= (p.Met558=)
c.1388T= (p.Met463=)
c.170T= (p.Met57=)
n.540T=
17g.63487009G>ACA400556679ACEc.2241G>A (p.Met747Ile)
c.519G>A (p.Met173Ile)
c.*311G>A (n.*311G>A)
c.422G>A (n.422G>A)
c.803G>A
c.*161G>A (n.*161G>A)
c.9G>A (p.Met3Ile)
n.187G>A
c.1692G>A (p.Met564Ile)
c.579G>A (p.Met193Ile)
c.1674G>A (p.Met558Ile)
c.1389G>A (p.Met463Ile)
c.171G>A (p.Met57Ile)
n.541G>A
17g.63487009G>CCA400556683ACEc.2241G>C (p.Met747Ile)
c.519G>C (p.Met173Ile)
c.*311G>C (n.*311G>C)
c.422G>C (n.422G>C)
c.803G>C
c.*161G>C (n.*161G>C)
c.9G>C (p.Met3Ile)
n.187G>C
c.1692G>C (p.Met564Ile)
c.579G>C (p.Met193Ile)
c.1674G>C (p.Met558Ile)
c.1389G>C (p.Met463Ile)
c.171G>C (p.Met57Ile)
n.541G>C
17g.63487009G>TCA400556686ACEc.2241G>T (p.Met747Ile)
c.519G>T (p.Met173Ile)
c.*311G>T (n.*311G>T)
c.422G>T (n.422G>T)
c.803G>T
c.*161G>T (n.*161G>T)
c.9G>T (p.Met3Ile)
n.187G>T
c.1692G>T (p.Met564Ile)
c.579G>T (p.Met193Ile)
c.1674G>T (p.Met558Ile)
c.1389G>T (p.Met463Ile)
c.171G>T (p.Met57Ile)
n.541G>T
17g.63487010G>ACA292881821ACEc.2242G>A (p.Glu748Lys)
c.520G>A (p.Glu174Lys)
c.*312G>A (n.*312G>A)
c.423G>A (n.423G>A)
c.804G>A
c.*162G>A (n.*162G>A)
c.10G>A (p.Glu4Lys)
n.188G>A
c.1693G>A (p.Glu565Lys)
c.580G>A (p.Glu194Lys)
c.1675G>A (p.Glu559Lys)
c.1390G>A (p.Glu464Lys)
c.172G>A (p.Glu58Lys)
n.542G>A
 dbSNP
17g.63487010G>CCA400556692ACEc.2242G>C (p.Glu748Gln)
c.520G>C (p.Glu174Gln)
c.*312G>C (n.*312G>C)
c.423G>C (n.423G>C)
c.804G>C
c.*162G>C (n.*162G>C)
c.10G>C (p.Glu4Gln)
n.188G>C
c.1693G>C (p.Glu565Gln)
c.580G>C (p.Glu194Gln)
c.1675G>C (p.Glu559Gln)
c.1390G>C (p.Glu464Gln)
c.172G>C (p.Glu58Gln)
n.542G>C
17g.63487010G=CA2269945065ACEc.2242G= (p.Glu748=)
c.520G= (p.Glu174=)
c.*312G= (n.*312G=)
c.423G= (n.423G=)
c.804G=
c.*162G= (n.*162G=)
c.10G= (p.Glu4=)
n.188G=
c.1693G= (p.Glu565=)
c.580G= (p.Glu194=)
c.1675G= (p.Glu559=)
c.1390G= (p.Glu464=)
c.172G= (p.Glu58=)
n.542G=
17g.63487010G>TCA400556694ACEc.2242G>T (p.Glu748Ter)
c.520G>T (p.Glu174Ter)
c.*312G>T (n.*312G>T)
c.423G>T (n.423G>T)
c.804G>T
c.*162G>T (n.*162G>T)
c.10G>T (p.Glu4Ter)
n.188G>T
c.1693G>T (p.Glu565Ter)
c.580G>T (p.Glu194Ter)
c.1675G>T (p.Glu559Ter)
c.1390G>T (p.Glu464Ter)
c.172G>T (p.Glu58Ter)
n.542G>T
17g.63487011A=CA2269945066ACEc.2243A= (p.Glu748=)
c.521A= (p.Glu174=)
c.*313A= (n.*313A=)
c.424A= (n.424A=)
c.805A=
c.*163A= (n.*163A=)
c.11A= (p.Glu4=)
n.189A=
c.1694A= (p.Glu565=)
c.581A= (p.Glu194=)
c.1676A= (p.Glu559=)
c.1391A= (p.Glu464=)
c.173A= (p.Glu58=)
n.543A=
17g.63487011A>CCA400556697ACEc.2243A>C (p.Glu748Ala)
c.521A>C (p.Glu174Ala)
c.*313A>C (n.*313A>C)
c.424A>C (n.424A>C)
c.805A>C
c.*163A>C (n.*163A>C)
c.11A>C (p.Glu4Ala)
n.189A>C
c.1694A>C (p.Glu565Ala)
c.581A>C (p.Glu194Ala)
c.1676A>C (p.Glu559Ala)
c.1391A>C (p.Glu464Ala)
c.173A>C (p.Glu58Ala)
n.543A>C
17g.63487011A>GCA400556700ACEc.2243A>G (p.Glu748Gly)
c.521A>G (p.Glu174Gly)
c.*313A>G (n.*313A>G)
c.424A>G (n.424A>G)
c.805A>G
c.*163A>G (n.*163A>G)
c.11A>G (p.Glu4Gly)
n.189A>G
c.1694A>G (p.Glu565Gly)
c.581A>G (p.Glu194Gly)
c.1676A>G (p.Glu559Gly)
c.1391A>G (p.Glu464Gly)
c.173A>G (p.Glu58Gly)
n.543A>G
 dbSNP gnomAD v3 gnomAD v4
17g.63487011A>TCA400556699ACEc.2243A>T (p.Glu748Val)
c.521A>T (p.Glu174Val)
c.*313A>T (n.*313A>T)
c.424A>T (n.424A>T)
c.805A>T
c.*163A>T (n.*163A>T)
c.11A>T (p.Glu4Val)
n.189A>T
c.1694A>T (p.Glu565Val)
c.581A>T (p.Glu194Val)
c.1676A>T (p.Glu559Val)
c.1391A>T (p.Glu464Val)
c.173A>T (p.Glu58Val)
n.543A>T
17g.63487012A>CCA400556702ACEc.2244A>C (p.Glu748Asp)
c.522A>C (p.Glu174Asp)
c.*314A>C (n.*314A>C)
c.425A>C (n.425A>C)
c.806A>C
c.*164A>C (n.*164A>C)
c.12A>C (p.Glu4Asp)
n.190A>C
c.1695A>C (p.Glu565Asp)
c.582A>C (p.Glu194Asp)
c.1677A>C (p.Glu559Asp)
c.1392A>C (p.Glu464Asp)
c.174A>C (p.Glu58Asp)
n.544A>C
17g.63487012A>GCA501185328ACEc.2244A>G (p.Glu748=)
c.522A>G (p.Glu174=)
c.*314A>G (n.*314A>G)
c.425A>G (n.425A>G)
c.806A>G
c.*164A>G (n.*164A>G)
c.12A>G (p.Glu4=)
n.190A>G
c.1695A>G (p.Glu565=)
c.582A>G (p.Glu194=)
c.1677A>G (p.Glu559=)
c.1392A>G (p.Glu464=)
c.174A>G (p.Glu58=)
n.544A>G
17g.63487012A>TCA400556705ACEc.2244A>T (p.Glu748Asp)
c.522A>T (p.Glu174Asp)
c.*314A>T (n.*314A>T)
c.425A>T (n.425A>T)
c.806A>T
c.*164A>T (n.*164A>T)
c.12A>T (p.Glu4Asp)
n.190A>T
c.1695A>T (p.Glu565Asp)
c.582A>T (p.Glu194Asp)
c.1677A>T (p.Glu559Asp)
c.1392A>T (p.Glu464Asp)
c.174A>T (p.Glu58Asp)
n.544A>T
17g.63487013A=CA2269945067ACEc.2245A= (p.Thr749=)
c.523A= (p.Thr175=)
c.*315A= (n.*315A=)
c.426A= (n.426A=)
c.807A=
c.*165A= (n.*165A=)
c.13A= (p.Thr5=)
n.191A=
c.1696A= (p.Thr566=)
c.583A= (p.Thr195=)
c.1678A= (p.Thr560=)
c.1393A= (p.Thr465=)
c.175A= (p.Thr59=)
n.545A=
17g.63487013A>CCA400556707ACEc.2245A>C (p.Thr749Pro)
c.523A>C (p.Thr175Pro)
c.*315A>C (n.*315A>C)
c.426A>C (n.426A>C)
c.807A>C
c.*165A>C (n.*165A>C)
c.13A>C (p.Thr5Pro)
n.191A>C
c.1696A>C (p.Thr566Pro)
c.583A>C (p.Thr195Pro)
c.1678A>C (p.Thr560Pro)
c.1393A>C (p.Thr465Pro)
c.175A>C (p.Thr59Pro)
n.545A>C
 dbSNP
17g.63487013A>GCA400556709ACEc.2245A>G (p.Thr749Ala)
c.523A>G (p.Thr175Ala)
c.*315A>G (n.*315A>G)
c.426A>G (n.426A>G)
c.807A>G
c.*165A>G (n.*165A>G)
c.13A>G (p.Thr5Ala)
n.191A>G
c.1696A>G (p.Thr566Ala)
c.583A>G (p.Thr195Ala)
c.1678A>G (p.Thr560Ala)
c.1393A>G (p.Thr465Ala)
c.175A>G (p.Thr59Ala)
n.545A>G
 dbSNP gnomAD v3 gnomAD v4
17g.63487013A>TCA400556710ACEc.2245A>T (p.Thr749Ser)
c.523A>T (p.Thr175Ser)
c.*315A>T (n.*315A>T)
c.426A>T (n.426A>T)
c.807A>T
c.*165A>T (n.*165A>T)
c.13A>T (p.Thr5Ser)
n.191A>T
c.1696A>T (p.Thr566Ser)
c.583A>T (p.Thr195Ser)
c.1678A>T (p.Thr560Ser)
c.1393A>T (p.Thr465Ser)
c.175A>T (p.Thr59Ser)
n.545A>T
17g.63487014C>ACA400556713ACEc.2246C>A (p.Thr749Asn)
c.524C>A (p.Thr175Asn)
c.*316C>A (n.*316C>A)
c.427C>A (n.427C>A)
c.808C>A
c.*166C>A (n.*166C>A)
c.14C>A (p.Thr5Asn)
n.192C>A
c.1697C>A (p.Thr566Asn)
c.584C>A (p.Thr195Asn)
c.1679C>A (p.Thr560Asn)
c.1394C>A (p.Thr465Asn)
c.176C>A (p.Thr59Asn)
n.546C>A
17g.63487014C>GCA400556715ACEc.2246C>G (p.Thr749Ser)
c.524C>G (p.Thr175Ser)
c.*316C>G (n.*316C>G)
c.427C>G (n.427C>G)
c.808C>G
c.*166C>G (n.*166C>G)
c.14C>G (p.Thr5Ser)
n.192C>G
c.1697C>G (p.Thr566Ser)
c.584C>G (p.Thr195Ser)
c.1679C>G (p.Thr560Ser)
c.1394C>G (p.Thr465Ser)
c.176C>G (p.Thr59Ser)
n.546C>G
17g.63487014C>TCA400556716ACEc.2246C>T (p.Thr749Ile)
c.524C>T (p.Thr175Ile)
c.*316C>T (n.*316C>T)
c.427C>T (n.427C>T)
c.808C>T
c.*166C>T (n.*166C>T)
c.14C>T (p.Thr5Ile)
n.192C>T
c.1697C>T (p.Thr566Ile)
c.584C>T (p.Thr195Ile)
c.1679C>T (p.Thr560Ile)
c.1394C>T (p.Thr465Ile)
c.176C>T (p.Thr59Ile)
n.546C>T
 gnomAD v4
17g.63487015C>ACA501185338ACEc.2247C>A (p.Thr749=)
c.525C>A (p.Thr175=)
c.*317C>A (n.*317C>A)
c.428C>A (n.428C>A)
c.809C>A
c.*167C>A (n.*167C>A)
c.15C>A (p.Thr5=)
n.193C>A
c.1698C>A (p.Thr566=)
c.585C>A (p.Thr195=)
c.1680C>A (p.Thr560=)
c.1395C>A (p.Thr465=)
c.177C>A (p.Thr59=)
n.547C>A
17g.63487015C=CA2269945068ACEc.2247C= (p.Thr749=)
c.525C= (p.Thr175=)
c.*317C= (n.*317C=)
c.428C= (n.428C=)
c.809C=
c.*167C= (n.*167C=)
c.15C= (p.Thr5=)
n.193C=
c.1698C= (p.Thr566=)
c.585C= (p.Thr195=)
c.1680C= (p.Thr560=)
c.1395C= (p.Thr465=)
c.177C= (p.Thr59=)
n.547C=
17g.63487015C>GCA501185340ACEc.2247C>G (p.Thr749=)
c.525C>G (p.Thr175=)
c.*317C>G (n.*317C>G)
c.428C>G (n.428C>G)
c.809C>G
c.*167C>G (n.*167C>G)
c.15C>G (p.Thr5=)
n.193C>G
c.1698C>G (p.Thr566=)
c.585C>G (p.Thr195=)
c.1680C>G (p.Thr560=)
c.1395C>G (p.Thr465=)
c.177C>G (p.Thr59=)
n.547C>G
17g.63487015C>TCA8699984ACEc.2247C>T (p.Thr749=)
c.525C>T (p.Thr175=)
c.*317C>T (n.*317C>T)
c.428C>T (n.428C>T)
c.809C>T
c.*167C>T (n.*167C>T)
c.15C>T (p.Thr5=)
n.193C>T
c.1698C>T (p.Thr566=)
c.585C>T (p.Thr195=)
c.1680C>T (p.Thr560=)
c.1395C>T (p.Thr465=)
c.177C>T (p.Thr59=)
n.547C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63487016A=CA2269945069ACEc.2248A= (p.Thr750=)
c.526A= (p.Thr176=)
c.*318A= (n.*318A=)
c.429A= (n.429A=)
c.810A=
c.*168A= (n.*168A=)
c.16A= (p.Thr6=)
n.194A=
c.1699A= (p.Thr567=)
c.586A= (p.Thr196=)
c.1681A= (p.Thr561=)
c.1396A= (p.Thr466=)
c.178A= (p.Thr60=)
n.548A=
17g.63487016A>CCA400556720ACEc.2248A>C (p.Thr750Pro)
c.526A>C (p.Thr176Pro)
c.*318A>C (n.*318A>C)
c.429A>C (n.429A>C)
c.810A>C
c.*168A>C (n.*168A>C)
c.16A>C (p.Thr6Pro)
n.194A>C
c.1699A>C (p.Thr567Pro)
c.586A>C (p.Thr196Pro)
c.1681A>C (p.Thr561Pro)
c.1396A>C (p.Thr466Pro)
c.178A>C (p.Thr60Pro)
n.548A>C
 dbSNP
17g.63487016A>GCA400556722ACEc.2248A>G (p.Thr750Ala)
c.526A>G (p.Thr176Ala)
c.*318A>G (n.*318A>G)
c.429A>G (n.429A>G)
c.810A>G
c.*168A>G (n.*168A>G)
c.16A>G (p.Thr6Ala)
n.194A>G
c.1699A>G (p.Thr567Ala)
c.586A>G (p.Thr196Ala)
c.1681A>G (p.Thr561Ala)
c.1396A>G (p.Thr466Ala)
c.178A>G (p.Thr60Ala)
n.548A>G
 gnomAD v4
17g.63487016A>TCA400556719ACEc.2248A>T (p.Thr750Ser)
c.526A>T (p.Thr176Ser)
c.*318A>T (n.*318A>T)
c.429A>T (n.429A>T)
c.810A>T
c.*168A>T (n.*168A>T)
c.16A>T (p.Thr6Ser)
n.194A>T
c.1699A>T (p.Thr567Ser)
c.586A>T (p.Thr196Ser)
c.1681A>T (p.Thr561Ser)
c.1396A>T (p.Thr466Ser)
c.178A>T (p.Thr60Ser)
n.548A>T
17g.63487017C>ACA400556724ACEc.2249C>A (p.Thr750Asn)
c.527C>A (p.Thr176Asn)
c.*319C>A (n.*319C>A)
c.430C>A (n.430C>A)
c.811C>A
c.*169C>A (n.*169C>A)
c.17C>A (p.Thr6Asn)
n.195C>A
c.1700C>A (p.Thr567Asn)
c.587C>A (p.Thr196Asn)
c.1682C>A (p.Thr561Asn)
c.1397C>A (p.Thr466Asn)
c.179C>A (p.Thr60Asn)
n.549C>A
 gnomAD v4
17g.63487017C=CA2269945070ACEc.2249C= (p.Thr750=)
c.527C= (p.Thr176=)
c.*319C= (n.*319C=)
c.430C= (n.430C=)
c.811C=
c.*169C= (n.*169C=)
c.17C= (p.Thr6=)
n.195C=
c.1700C= (p.Thr567=)
c.587C= (p.Thr196=)
c.1682C= (p.Thr561=)
c.1397C= (p.Thr466=)
c.179C= (p.Thr60=)
n.549C=
17g.63487017C>GCA400556726ACEc.2249C>G (p.Thr750Ser)
c.527C>G (p.Thr176Ser)
c.*319C>G (n.*319C>G)
c.430C>G (n.430C>G)
c.811C>G
c.*169C>G (n.*169C>G)
c.17C>G (p.Thr6Ser)
n.195C>G
c.1700C>G (p.Thr567Ser)
c.587C>G (p.Thr196Ser)
c.1682C>G (p.Thr561Ser)
c.1397C>G (p.Thr466Ser)
c.179C>G (p.Thr60Ser)
n.549C>G
17g.63487017C>TCA400556728ACEc.2249C>T (p.Thr750Ile)
c.527C>T (p.Thr176Ile)
c.*319C>T (n.*319C>T)
c.430C>T (n.430C>T)
c.811C>T
c.*169C>T (n.*169C>T)
c.17C>T (p.Thr6Ile)
n.195C>T
c.1700C>T (p.Thr567Ile)
c.587C>T (p.Thr196Ile)
c.1682C>T (p.Thr561Ile)
c.1397C>T (p.Thr466Ile)
c.179C>T (p.Thr60Ile)
n.549C>T
 dbSNP gnomAD v3 gnomAD v4
17g.63487018C>ACA501185351ACEc.2250C>A (p.Thr750=)
c.528C>A (p.Thr176=)
c.*320C>A (n.*320C>A)
c.431C>A (n.431C>A)
c.812C>A
c.*170C>A (n.*170C>A)
c.18C>A (p.Thr6=)
n.196C>A
c.1701C>A (p.Thr567=)
c.588C>A (p.Thr196=)
c.1683C>A (p.Thr561=)
c.1398C>A (p.Thr466=)
c.180C>A (p.Thr60=)
n.550C>A
 COSMIC COSMIC
17g.63487018C=CA2269945071ACEc.2250C= (p.Thr750=)
c.528C= (p.Thr176=)
c.*320C= (n.*320C=)
c.431C= (n.431C=)
c.812C=
c.*170C= (n.*170C=)
c.18C= (p.Thr6=)
n.196C=
c.1701C= (p.Thr567=)
c.588C= (p.Thr196=)
c.1683C= (p.Thr561=)
c.1398C= (p.Thr466=)
c.180C= (p.Thr60=)
n.550C=
17g.63487018C>GCA501185355ACEc.2250C>G (p.Thr750=)
c.528C>G (p.Thr176=)
c.*320C>G (n.*320C>G)
c.431C>G (n.431C>G)
c.812C>G
c.*170C>G (n.*170C>G)
c.18C>G (p.Thr6=)
n.196C>G
c.1701C>G (p.Thr567=)
c.588C>G (p.Thr196=)
c.1683C>G (p.Thr561=)
c.1398C>G (p.Thr466=)
c.180C>G (p.Thr60=)
n.550C>G
 gnomAD v4
17g.63487018C>TCA8699985ACEc.2250C>T (p.Thr750=)
c.528C>T (p.Thr176=)
c.*320C>T (n.*320C>T)
c.431C>T (n.431C>T)
c.812C>T
c.*170C>T (n.*170C>T)
c.18C>T (p.Thr6=)
n.196C>T
c.1701C>T (p.Thr567=)
c.588C>T (p.Thr196=)
c.1683C>T (p.Thr561=)
c.1398C>T (p.Thr466=)
c.180C>T (p.Thr60=)
n.550C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487019T>ACA400556731ACEc.2251T>A (p.Tyr751Asn)
c.529T>A (p.Tyr177Asn)
c.*321T>A (n.*321T>A)
c.432T>A (n.432T>A)
c.813T>A
c.*171T>A (n.*171T>A)
c.19T>A (p.Tyr7Asn)
n.197T>A
c.1702T>A (p.Tyr568Asn)
c.589T>A (p.Tyr197Asn)
c.1684T>A (p.Tyr562Asn)
c.1399T>A (p.Tyr467Asn)
c.181T>A (p.Tyr61Asn)
n.551T>A
17g.63487019T>CCA400556733ACEc.2251T>C (p.Tyr751His)
c.529T>C (p.Tyr177His)
c.*321T>C (n.*321T>C)
c.432T>C (n.432T>C)
c.813T>C
c.*171T>C (n.*171T>C)
c.19T>C (p.Tyr7His)
n.197T>C
c.1702T>C (p.Tyr568His)
c.589T>C (p.Tyr197His)
c.1684T>C (p.Tyr562His)
c.1399T>C (p.Tyr467His)
c.181T>C (p.Tyr61His)
n.551T>C
17g.63487019T>GCA400556735ACEc.2251T>G (p.Tyr751Asp)
c.529T>G (p.Tyr177Asp)
c.*321T>G (n.*321T>G)
c.432T>G (n.432T>G)
c.813T>G
c.*171T>G (n.*171T>G)
c.19T>G (p.Tyr7Asp)
n.197T>G
c.1702T>G (p.Tyr568Asp)
c.589T>G (p.Tyr197Asp)
c.1684T>G (p.Tyr562Asp)
c.1399T>G (p.Tyr467Asp)
c.181T>G (p.Tyr61Asp)
n.551T>G
17g.63487020A>CCA400556737ACEc.2252A>C (p.Tyr751Ser)
c.530A>C (p.Tyr177Ser)
c.*322A>C (n.*322A>C)
c.433A>C (n.433A>C)
c.814A>C
c.*172A>C (n.*172A>C)
c.20A>C (p.Tyr7Ser)
n.198A>C
c.1703A>C (p.Tyr568Ser)
c.590A>C (p.Tyr197Ser)
c.1685A>C (p.Tyr562Ser)
c.1400A>C (p.Tyr467Ser)
c.182A>C (p.Tyr61Ser)
n.552A>C
17g.63487020A>GCA400556739ACEc.2252A>G (p.Tyr751Cys)
c.530A>G (p.Tyr177Cys)
c.*322A>G (n.*322A>G)
c.433A>G (n.433A>G)
c.814A>G
c.*172A>G (n.*172A>G)
c.20A>G (p.Tyr7Cys)
n.198A>G
c.1703A>G (p.Tyr568Cys)
c.590A>G (p.Tyr197Cys)
c.1685A>G (p.Tyr562Cys)
c.1400A>G (p.Tyr467Cys)
c.182A>G (p.Tyr61Cys)
n.552A>G
 gnomAD v4
17g.63487020A>TCA400556742ACEc.2252A>T (p.Tyr751Phe)
c.530A>T (p.Tyr177Phe)
c.*322A>T (n.*322A>T)
c.433A>T (n.433A>T)
c.814A>T
c.*172A>T (n.*172A>T)
c.20A>T (p.Tyr7Phe)
n.198A>T
c.1703A>T (p.Tyr568Phe)
c.590A>T (p.Tyr197Phe)
c.1685A>T (p.Tyr562Phe)
c.1400A>T (p.Tyr467Phe)
c.182A>T (p.Tyr61Phe)
n.552A>T
17g.63487021C>ACA400556744ACEc.2253C>A (p.Tyr751Ter)
c.531C>A (p.Tyr177Ter)
c.*323C>A (n.*323C>A)
c.434C>A (n.434C>A)
c.815C>A
c.*173C>A (n.*173C>A)
c.21C>A (p.Tyr7Ter)
n.199C>A
c.1704C>A (p.Tyr568Ter)
c.591C>A (p.Tyr197Ter)
c.1686C>A (p.Tyr562Ter)
c.1401C>A (p.Tyr467Ter)
c.183C>A (p.Tyr61Ter)
n.553C>A
17g.63487021C>GCA400556746ACEc.2253C>G (p.Tyr751Ter)
c.531C>G (p.Tyr177Ter)
c.*323C>G (n.*323C>G)
c.434C>G (n.434C>G)
c.815C>G
c.*173C>G (n.*173C>G)
c.21C>G (p.Tyr7Ter)
n.199C>G
c.1704C>G (p.Tyr568Ter)
c.591C>G (p.Tyr197Ter)
c.1686C>G (p.Tyr562Ter)
c.1401C>G (p.Tyr467Ter)
c.183C>G (p.Tyr61Ter)
n.553C>G
17g.63487021C>TCA501185366ACEc.2253C>T (p.Tyr751=)
c.531C>T (p.Tyr177=)
c.*323C>T (n.*323C>T)
c.434C>T (n.434C>T)
c.815C>T
c.*173C>T (n.*173C>T)
c.21C>T (p.Tyr7=)
n.199C>T
c.1704C>T (p.Tyr568=)
c.591C>T (p.Tyr197=)
c.1686C>T (p.Tyr562=)
c.1401C>T (p.Tyr467=)
c.183C>T (p.Tyr61=)
n.553C>T
 COSMIC COSMIC COSMIC COSMIC
17g.63487022A>CCA400556752ACEc.2254A>C (p.Ser752Arg)
c.532A>C (p.Ser178Arg)
c.*324A>C (n.*324A>C)
c.435A>C (n.435A>C)
c.816A>C
c.*174A>C (n.*174A>C)
c.22A>C (p.Ser8Arg)
n.200A>C
c.1705A>C (p.Ser569Arg)
c.592A>C (p.Ser198Arg)
c.1687A>C (p.Ser563Arg)
c.1402A>C (p.Ser468Arg)
c.184A>C (p.Ser62Arg)
n.554A>C
17g.63487022A>GCA400556748ACEc.2254A>G (p.Ser752Gly)
c.532A>G (p.Ser178Gly)
c.*324A>G (n.*324A>G)
c.435A>G (n.435A>G)
c.816A>G
c.*174A>G (n.*174A>G)
c.22A>G (p.Ser8Gly)
n.200A>G
c.1705A>G (p.Ser569Gly)
c.592A>G (p.Ser198Gly)
c.1687A>G (p.Ser563Gly)
c.1402A>G (p.Ser468Gly)
c.184A>G (p.Ser62Gly)
n.554A>G
17g.63487022A>TCA400556750ACEc.2254A>T (p.Ser752Cys)
c.532A>T (p.Ser178Cys)
c.*324A>T (n.*324A>T)
c.435A>T (n.435A>T)
c.816A>T
c.*174A>T (n.*174A>T)
c.22A>T (p.Ser8Cys)
n.200A>T
c.1705A>T (p.Ser569Cys)
c.592A>T (p.Ser198Cys)
c.1687A>T (p.Ser563Cys)
c.1402A>T (p.Ser468Cys)
c.184A>T (p.Ser62Cys)
n.554A>T
17g.63487023G>ACA400556754ACEc.2255G>A (p.Ser752Asn)
c.533G>A (p.Ser178Asn)
c.*325G>A (n.*325G>A)
c.436G>A (n.436G>A)
c.817G>A
c.*175G>A (n.*175G>A)
c.23G>A (p.Ser8Asn)
n.201G>A
c.1706G>A (p.Ser569Asn)
c.593G>A (p.Ser198Asn)
c.1688G>A (p.Ser563Asn)
c.1403G>A (p.Ser468Asn)
c.185G>A (p.Ser62Asn)
n.555G>A
 dbSNP
17g.63487023G>CCA400556756ACEc.2255G>C (p.Ser752Thr)
c.533G>C (p.Ser178Thr)
c.*325G>C (n.*325G>C)
c.436G>C (n.436G>C)
c.817G>C
c.*175G>C (n.*175G>C)
c.23G>C (p.Ser8Thr)
n.201G>C
c.1706G>C (p.Ser569Thr)
c.593G>C (p.Ser198Thr)
c.1688G>C (p.Ser563Thr)
c.1403G>C (p.Ser468Thr)
c.185G>C (p.Ser62Thr)
n.555G>C
 dbSNP gnomAD v3 gnomAD v4
17g.63487023G=CA2269945072ACEc.2255G= (p.Ser752=)
c.533G= (p.Ser178=)
c.*325G= (n.*325G=)
c.436G= (n.436G=)
c.817G=
c.*175G= (n.*175G=)
c.23G= (p.Ser8=)
n.201G=
c.1706G= (p.Ser569=)
c.593G= (p.Ser198=)
c.1688G= (p.Ser563=)
c.1403G= (p.Ser468=)
c.185G= (p.Ser62=)
n.555G=
17g.63487023G>TCA400556758ACEc.2255G>T (p.Ser752Ile)
c.533G>T (p.Ser178Ile)
c.*325G>T (n.*325G>T)
c.436G>T (n.436G>T)
c.817G>T
c.*175G>T (n.*175G>T)
c.23G>T (p.Ser8Ile)
n.201G>T
c.1706G>T (p.Ser569Ile)
c.593G>T (p.Ser198Ile)
c.1688G>T (p.Ser563Ile)
c.1403G>T (p.Ser468Ile)
c.185G>T (p.Ser62Ile)
n.555G>T
 dbSNP gnomAD v4
17g.63487024C>ACA400556760ACEc.2256C>A (p.Ser752Arg)
c.534C>A (p.Ser178Arg)
c.*326C>A (n.*326C>A)
c.437C>A (n.437C>A)
c.818C>A
c.*176C>A (n.*176C>A)
c.24C>A (p.Ser8Arg)
n.202C>A
c.1707C>A (p.Ser569Arg)
c.594C>A (p.Ser198Arg)
c.1689C>A (p.Ser563Arg)
c.1404C>A (p.Ser468Arg)
c.186C>A (p.Ser62Arg)
n.556C>A
17g.63487024C=CA2269945073ACEc.2256C= (p.Ser752=)
c.534C= (p.Ser178=)
c.*326C= (n.*326C=)
c.437C= (n.437C=)
c.818C=
c.*176C= (n.*176C=)
c.24C= (p.Ser8=)
n.202C=
c.1707C= (p.Ser569=)
c.594C= (p.Ser198=)
c.1689C= (p.Ser563=)
c.1404C= (p.Ser468=)
c.186C= (p.Ser62=)
n.556C=
17g.63487024C>GCA400556762ACEc.2256C>G (p.Ser752Arg)
c.534C>G (p.Ser178Arg)
c.*326C>G (n.*326C>G)
c.437C>G (n.437C>G)
c.818C>G
c.*176C>G (n.*176C>G)
c.24C>G (p.Ser8Arg)
n.202C>G
c.1707C>G (p.Ser569Arg)
c.594C>G (p.Ser198Arg)
c.1689C>G (p.Ser563Arg)
c.1404C>G (p.Ser468Arg)
c.186C>G (p.Ser62Arg)
n.556C>G
17g.63487024C>TCA8699986ACEc.2256C>T (p.Ser752=)
c.534C>T (p.Ser178=)
c.*326C>T (n.*326C>T)
c.437C>T (n.437C>T)
c.818C>T
c.*176C>T (n.*176C>T)
c.24C>T (p.Ser8=)
n.202C>T
c.1707C>T (p.Ser569=)
c.594C>T (p.Ser198=)
c.1689C>T (p.Ser563=)
c.1404C>T (p.Ser468=)
c.186C>T (p.Ser62=)
n.556C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487025G>ACA292881841ACEc.2257G>A (p.Val753Met)
c.535G>A (p.Val179Met)
c.*327G>A (n.*327G>A)
c.438G>A (n.438G>A)
c.819G>A
c.*177G>A (n.*177G>A)
c.25G>A (p.Val9Met)
n.203G>A
c.1708G>A (p.Val570Met)
c.595G>A (p.Val199Met)
c.1690G>A (p.Val564Met)
c.1405G>A (p.Val469Met)
c.187G>A (p.Val63Met)
n.557G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63487025G>CCA400556766ACEc.2257G>C (p.Val753Leu)
c.535G>C (p.Val179Leu)
c.*327G>C (n.*327G>C)
c.438G>C (n.438G>C)
c.819G>C
c.*177G>C (n.*177G>C)
c.25G>C (p.Val9Leu)
n.203G>C
c.1708G>C (p.Val570Leu)
c.595G>C (p.Val199Leu)
c.1690G>C (p.Val564Leu)
c.1405G>C (p.Val469Leu)
c.187G>C (p.Val63Leu)
n.557G>C
17g.63487025G=CA2269945074ACEc.2257G= (p.Val753=)
c.535G= (p.Val179=)
c.*327G= (n.*327G=)
c.438G= (n.438G=)
c.819G=
c.*177G= (n.*177G=)
c.25G= (p.Val9=)
n.203G=
c.1708G= (p.Val570=)
c.595G= (p.Val199=)
c.1690G= (p.Val564=)
c.1405G= (p.Val469=)
c.187G= (p.Val63=)
n.557G=
17g.63487025G>TCA400556768ACEc.2257G>T (p.Val753Leu)
c.535G>T (p.Val179Leu)
c.*327G>T (n.*327G>T)
c.438G>T (n.438G>T)
c.819G>T
c.*177G>T (n.*177G>T)
c.25G>T (p.Val9Leu)
n.203G>T
c.1708G>T (p.Val570Leu)
c.595G>T (p.Val199Leu)
c.1690G>T (p.Val564Leu)
c.1405G>T (p.Val469Leu)
c.187G>T (p.Val63Leu)
n.557G>T
 gnomAD v4
17g.63487026T>ACA400556770ACEc.2258T>A (p.Val753Glu)
c.536T>A (p.Val179Glu)
c.*328T>A (n.*328T>A)
c.439T>A (n.439T>A)
c.820T>A
c.*178T>A (n.*178T>A)
c.26T>A (p.Val9Glu)
n.204T>A
c.1709T>A (p.Val570Glu)
c.596T>A (p.Val199Glu)
c.1691T>A (p.Val564Glu)
c.1406T>A (p.Val469Glu)
c.188T>A (p.Val63Glu)
n.558T>A
17g.63487026T>CCA400556772ACEc.2258T>C (p.Val753Ala)
c.536T>C (p.Val179Ala)
c.*328T>C (n.*328T>C)
c.439T>C (n.439T>C)
c.820T>C
c.*178T>C (n.*178T>C)
c.26T>C (p.Val9Ala)
n.204T>C
c.1709T>C (p.Val570Ala)
c.596T>C (p.Val199Ala)
c.1691T>C (p.Val564Ala)
c.1406T>C (p.Val469Ala)
c.188T>C (p.Val63Ala)
n.558T>C
17g.63487026T>GCA400556775ACEc.2258T>G (p.Val753Gly)
c.536T>G (p.Val179Gly)
c.*328T>G (n.*328T>G)
c.439T>G (n.439T>G)
c.820T>G
c.*178T>G (n.*178T>G)
c.26T>G (p.Val9Gly)
n.204T>G
c.1709T>G (p.Val570Gly)
c.596T>G (p.Val199Gly)
c.1691T>G (p.Val564Gly)
c.1406T>G (p.Val469Gly)
c.188T>G (p.Val63Gly)
n.558T>G
17g.63487027G>ACA501185388ACEc.2259G>A (p.Val753=)
c.537G>A (p.Val179=)
c.*329G>A (n.*329G>A)
c.440G>A (n.440G>A)
c.821G>A
c.*179G>A (n.*179G>A)
c.27G>A (p.Val9=)
n.205G>A
c.1710G>A (p.Val570=)
c.597G>A (p.Val199=)
c.1692G>A (p.Val564=)
c.1407G>A (p.Val469=)
c.189G>A (p.Val63=)
n.559G>A
17g.63487027G>CCA501185390ACEc.2259G>C (p.Val753=)
c.537G>C (p.Val179=)
c.*329G>C (n.*329G>C)
c.440G>C (n.440G>C)
c.821G>C
c.*179G>C (n.*179G>C)
c.27G>C (p.Val9=)
n.205G>C
c.1710G>C (p.Val570=)
c.597G>C (p.Val199=)
c.1692G>C (p.Val564=)
c.1407G>C (p.Val469=)
c.189G>C (p.Val63=)
n.559G>C
17g.63487027G>TCA501185386ACEc.2259G>T (p.Val753=)
c.537G>T (p.Val179=)
c.*329G>T (n.*329G>T)
c.440G>T (n.440G>T)
c.821G>T
c.*179G>T (n.*179G>T)
c.27G>T (p.Val9=)
n.205G>T
c.1710G>T (p.Val570=)
c.597G>T (p.Val199=)
c.1692G>T (p.Val564=)
c.1407G>T (p.Val469=)
c.189G>T (p.Val63=)
n.559G>T
17g.63487027_63487037delinsGGCCACTGTGTCA2269945075ACEc.2259_2269delinsGGCCACTGTGT (p.Val753=)
c.537_547delinsGGCCACTGTGT (p.Val179=)
c.*329_*339delinsGGCCACTGTGT (n.*329_*339delinsGGCCACTGTGT)
c.440_450delinsGGCCACTGTGT (n.440_450delinsGGCCACTGTGT)
c.821_831delinsGGCCACTGTGT
c.*179_*189delinsGGCCACTGTGT (n.*179_*189delinsGGCCACTGTGT)
c.27_37delinsGGCCACTGTGT (p.Val9=)
n.205_215delinsGGCCACTGTGT
c.1710_1720delinsGGCCACTGTGT (p.Val570=)
c.597_607delinsGGCCACTGTGT (p.Val199=)
c.1692_1702delinsGGCCACTGTGT (p.Val564=)
c.1407_1417delinsGGCCACTGTGT (p.Val469=)
c.189_199delinsGGCCACTGTGT (p.Val63=)
n.559_569delinsGGCCACTGTGT
17g.63487028G>ACA400556780ACEc.2260G>A (p.Ala754Thr)
c.538G>A (p.Ala180Thr)
c.*330G>A (n.*330G>A)
c.441G>A (n.441G>A)
c.822G>A
c.*180G>A (n.*180G>A)
c.28G>A (p.Ala10Thr)
n.206G>A
c.1711G>A (p.Ala571Thr)
c.598G>A (p.Ala200Thr)
c.1693G>A (p.Ala565Thr)
c.1408G>A (p.Ala470Thr)
c.190G>A (p.Ala64Thr)
n.560G>A
17g.63487028G>CCA400556779ACEc.2260G>C (p.Ala754Pro)
c.538G>C (p.Ala180Pro)
c.*330G>C (n.*330G>C)
c.441G>C (n.441G>C)
c.822G>C
c.*180G>C (n.*180G>C)
c.28G>C (p.Ala10Pro)
n.206G>C
c.1711G>C (p.Ala571Pro)
c.598G>C (p.Ala200Pro)
c.1693G>C (p.Ala565Pro)
c.1408G>C (p.Ala470Pro)
c.190G>C (p.Ala64Pro)
n.560G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63487028G=CA2269945076ACEc.2260G= (p.Ala754=)
c.538G= (p.Ala180=)
c.*330G= (n.*330G=)
c.441G= (n.441G=)
c.822G=
c.*180G= (n.*180G=)
c.28G= (p.Ala10=)
n.206G=
c.1711G= (p.Ala571=)
c.598G= (p.Ala200=)
c.1693G= (p.Ala565=)
c.1408G= (p.Ala470=)
c.190G= (p.Ala64=)
n.560G=
17g.63487028G>TCA400556782ACEc.2260G>T (p.Ala754Ser)
c.538G>T (p.Ala180Ser)
c.*330G>T (n.*330G>T)
c.441G>T (n.441G>T)
c.822G>T
c.*180G>T (n.*180G>T)
c.28G>T (p.Ala10Ser)
n.206G>T
c.1711G>T (p.Ala571Ser)
c.598G>T (p.Ala200Ser)
c.1693G>T (p.Ala565Ser)
c.1408G>T (p.Ala470Ser)
c.190G>T (p.Ala64Ser)
n.560G>T
17g.63487033_63487042delCA8699987ACEc.2265_2274del (p.Val756ArgfsTer12)
c.543_552del (p.Val182ArgfsTer12)
c.*335_*344del (n.*335_*344del)
c.446_455del (n.446_455del)
c.827_836del
c.*185_*194del (n.*185_*194del)
c.33_42del (p.Val12ArgfsTer12)
n.211_220del
c.1716_1725del (p.Val573ArgfsTer12)
c.603_612del (p.Val202ArgfsTer12)
c.1698_1707del (p.Val567ArgfsTer12)
c.1413_1422del (p.Val472ArgfsTer12)
c.195_204del (p.Val66ArgfsTer12)
n.565_574del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63487029C>ACA400556787ACEc.2261C>A (p.Ala754Asp)
c.539C>A (p.Ala180Asp)
c.*331C>A (n.*331C>A)
c.442C>A (n.442C>A)
c.823C>A
c.*181C>A (n.*181C>A)
c.29C>A (p.Ala10Asp)
n.207C>A
c.1712C>A (p.Ala571Asp)
c.599C>A (p.Ala200Asp)
c.1694C>A (p.Ala565Asp)
c.1409C>A (p.Ala470Asp)
c.191C>A (p.Ala64Asp)
n.561C>A
17g.63487029C=CA2269945077ACEc.2261C= (p.Ala754=)
c.539C= (p.Ala180=)
c.*331C= (n.*331C=)
c.442C= (n.442C=)
c.823C=
c.*181C= (n.*181C=)
c.29C= (p.Ala10=)
n.207C=
c.1712C= (p.Ala571=)
c.599C= (p.Ala200=)
c.1694C= (p.Ala565=)
c.1409C= (p.Ala470=)
c.191C= (p.Ala64=)
n.561C=
17g.63487029C>GCA400556785ACEc.2261C>G (p.Ala754Gly)
c.539C>G (p.Ala180Gly)
c.*331C>G (n.*331C>G)
c.442C>G (n.442C>G)
c.823C>G
c.*181C>G (n.*181C>G)
c.29C>G (p.Ala10Gly)
n.207C>G
c.1712C>G (p.Ala571Gly)
c.599C>G (p.Ala200Gly)
c.1694C>G (p.Ala565Gly)
c.1409C>G (p.Ala470Gly)
c.191C>G (p.Ala64Gly)
n.561C>G
17g.63487029C>TCA400556786ACEc.2261C>T (p.Ala754Val)
c.539C>T (p.Ala180Val)
c.*331C>T (n.*331C>T)
c.442C>T (n.442C>T)
c.823C>T
c.*181C>T (n.*181C>T)
c.29C>T (p.Ala10Val)
n.207C>T
c.1712C>T (p.Ala571Val)
c.599C>T (p.Ala200Val)
c.1694C>T (p.Ala565Val)
c.1409C>T (p.Ala470Val)
c.191C>T (p.Ala64Val)
n.561C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63487030C>ACA501185401ACEc.2262C>A (p.Ala754=)
c.540C>A (p.Ala180=)
c.*332C>A (n.*332C>A)
c.443C>A (n.443C>A)
c.824C>A
c.*182C>A (n.*182C>A)
c.30C>A (p.Ala10=)
n.208C>A
c.1713C>A (p.Ala571=)
c.600C>A (p.Ala200=)
c.1695C>A (p.Ala565=)
c.1410C>A (p.Ala470=)
c.192C>A (p.Ala64=)
n.562C>A
17g.63487030C=CA2269945078ACEc.2262C= (p.Ala754=)
c.540C= (p.Ala180=)
c.*332C= (n.*332C=)
c.443C= (n.443C=)
c.824C=
c.*182C= (n.*182C=)
c.30C= (p.Ala10=)
n.208C=
c.1713C= (p.Ala571=)
c.600C= (p.Ala200=)
c.1695C= (p.Ala565=)
c.1410C= (p.Ala470=)
c.192C= (p.Ala64=)
n.562C=
17g.63487030C>GCA501185403ACEc.2262C>G (p.Ala754=)
c.540C>G (p.Ala180=)
c.*332C>G (n.*332C>G)
c.443C>G (n.443C>G)
c.824C>G
c.*182C>G (n.*182C>G)
c.30C>G (p.Ala10=)
n.208C>G
c.1713C>G (p.Ala571=)
c.600C>G (p.Ala200=)
c.1695C>G (p.Ala565=)
c.1410C>G (p.Ala470=)
c.192C>G (p.Ala64=)
n.562C>G
17g.63487030C>TCA8699988ACEc.2262C>T (p.Ala754=)
c.540C>T (p.Ala180=)
c.*332C>T (n.*332C>T)
c.443C>T (n.443C>T)
c.824C>T
c.*182C>T (n.*182C>T)
c.30C>T (p.Ala10=)
n.208C>T
c.1713C>T (p.Ala571=)
c.600C>T (p.Ala200=)
c.1695C>T (p.Ala565=)
c.1410C>T (p.Ala470=)
c.192C>T (p.Ala64=)
n.562C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487031A=CA2269945079ACEc.2263A= (p.Thr755=)
c.541A= (p.Thr181=)
c.*333A= (n.*333A=)
c.444A= (n.444A=)
c.825A=
c.*183A= (n.*183A=)
c.31A= (p.Thr11=)
n.209A=
c.1714A= (p.Thr572=)
c.601A= (p.Thr201=)
c.1696A= (p.Thr566=)
c.1411A= (p.Thr471=)
c.193A= (p.Thr65=)
n.563A=
17g.63487031A>CCA400556791ACEc.2263A>C (p.Thr755Pro)
c.541A>C (p.Thr181Pro)
c.*333A>C (n.*333A>C)
c.444A>C (n.444A>C)
c.825A>C
c.*183A>C (n.*183A>C)
c.31A>C (p.Thr11Pro)
n.209A>C
c.1714A>C (p.Thr572Pro)
c.601A>C (p.Thr201Pro)
c.1696A>C (p.Thr566Pro)
c.1411A>C (p.Thr471Pro)
c.193A>C (p.Thr65Pro)
n.563A>C
 gnomAD v4
17g.63487031A>GCA400556793ACEc.2263A>G (p.Thr755Ala)
c.541A>G (p.Thr181Ala)
c.*333A>G (n.*333A>G)
c.444A>G (n.444A>G)
c.825A>G
c.*183A>G (n.*183A>G)
c.31A>G (p.Thr11Ala)
n.209A>G
c.1714A>G (p.Thr572Ala)
c.601A>G (p.Thr201Ala)
c.1696A>G (p.Thr566Ala)
c.1411A>G (p.Thr471Ala)
c.193A>G (p.Thr65Ala)
n.563A>G
 dbSNP
17g.63487031A>TCA400556795ACEc.2263A>T (p.Thr755Ser)
c.541A>T (p.Thr181Ser)
c.*333A>T (n.*333A>T)
c.444A>T (n.444A>T)
c.825A>T
c.*183A>T (n.*183A>T)
c.31A>T (p.Thr11Ser)
n.209A>T
c.1714A>T (p.Thr572Ser)
c.601A>T (p.Thr201Ser)
c.1696A>T (p.Thr566Ser)
c.1411A>T (p.Thr471Ser)
c.193A>T (p.Thr65Ser)
n.563A>T
17g.63487032C>ACA400556798ACEc.2264C>A (p.Thr755Asn)
c.542C>A (p.Thr181Asn)
c.*334C>A (n.*334C>A)
c.445C>A (n.445C>A)
c.826C>A
c.*184C>A (n.*184C>A)
c.32C>A (p.Thr11Asn)
n.210C>A
c.1715C>A (p.Thr572Asn)
c.602C>A (p.Thr201Asn)
c.1697C>A (p.Thr566Asn)
c.1412C>A (p.Thr471Asn)
c.194C>A (p.Thr65Asn)
n.564C>A
17g.63487032C=CA2269945080ACEc.2264C= (p.Thr755=)
c.542C= (p.Thr181=)
c.*334C= (n.*334C=)
c.445C= (n.445C=)
c.826C=
c.*184C= (n.*184C=)
c.32C= (p.Thr11=)
n.210C=
c.1715C= (p.Thr572=)
c.602C= (p.Thr201=)
c.1697C= (p.Thr566=)
c.1412C= (p.Thr471=)
c.194C= (p.Thr65=)
n.564C=
17g.63487032C>GCA400556799ACEc.2264C>G (p.Thr755Ser)
c.542C>G (p.Thr181Ser)
c.*334C>G (n.*334C>G)
c.445C>G (n.445C>G)
c.826C>G
c.*184C>G (n.*184C>G)
c.32C>G (p.Thr11Ser)
n.210C>G
c.1715C>G (p.Thr572Ser)
c.602C>G (p.Thr201Ser)
c.1697C>G (p.Thr566Ser)
c.1412C>G (p.Thr471Ser)
c.194C>G (p.Thr65Ser)
n.564C>G
 dbSNP gnomAD v3 gnomAD v4
17g.63487032C>TCA8699989ACEc.2264C>T (p.Thr755Ile)
c.542C>T (p.Thr181Ile)
c.*334C>T (n.*334C>T)
c.445C>T (n.445C>T)
c.826C>T
c.*184C>T (n.*184C>T)
c.32C>T (p.Thr11Ile)
n.210C>T
c.1715C>T (p.Thr572Ile)
c.602C>T (p.Thr201Ile)
c.1697C>T (p.Thr566Ile)
c.1412C>T (p.Thr471Ile)
c.194C>T (p.Thr65Ile)
n.564C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487033T>ACA501185414ACEc.2265T>A (p.Thr755=)
c.543T>A (p.Thr181=)
c.*335T>A (n.*335T>A)
c.446T>A (n.446T>A)
c.827T>A
c.*185T>A (n.*185T>A)
c.33T>A (p.Thr11=)
n.211T>A
c.1716T>A (p.Thr572=)
c.603T>A (p.Thr201=)
c.1698T>A (p.Thr566=)
c.1413T>A (p.Thr471=)
c.195T>A (p.Thr65=)
n.565T>A
17g.63487033T>CCA501185416ACEc.2265T>C (p.Thr755=)
c.543T>C (p.Thr181=)
c.*335T>C (n.*335T>C)
c.446T>C (n.446T>C)
c.827T>C
c.*185T>C (n.*185T>C)
c.33T>C (p.Thr11=)
n.211T>C
c.1716T>C (p.Thr572=)
c.603T>C (p.Thr201=)
c.1698T>C (p.Thr566=)
c.1413T>C (p.Thr471=)
c.195T>C (p.Thr65=)
n.565T>C
 gnomAD v4
17g.63487033T>GCA501185418ACEc.2265T>G (p.Thr755=)
c.543T>G (p.Thr181=)
c.*335T>G (n.*335T>G)
c.446T>G (n.446T>G)
c.827T>G
c.*185T>G (n.*185T>G)
c.33T>G (p.Thr11=)
n.211T>G
c.1716T>G (p.Thr572=)
c.603T>G (p.Thr201=)
c.1698T>G (p.Thr566=)
c.1413T>G (p.Thr471=)
c.195T>G (p.Thr65=)
n.565T>G
17g.63487034G>ACA400556802ACEc.2266G>A (p.Val756Met)
c.544G>A (p.Val182Met)
c.*336G>A (n.*336G>A)
c.447G>A (n.447G>A)
c.828G>A
c.*186G>A (n.*186G>A)
c.34G>A (p.Val12Met)
n.212G>A
c.1717G>A (p.Val573Met)
c.604G>A (p.Val202Met)
c.1699G>A (p.Val567Met)
c.1414G>A (p.Val472Met)
c.196G>A (p.Val66Met)
n.566G>A
 ClinVar dbSNP gnomAD v4
17g.63487034G>CCA400556804ACEc.2266G>C (p.Val756Leu)
c.544G>C (p.Val182Leu)
c.*336G>C (n.*336G>C)
c.447G>C (n.447G>C)
c.828G>C
c.*186G>C (n.*186G>C)
c.34G>C (p.Val12Leu)
n.212G>C
c.1717G>C (p.Val573Leu)
c.604G>C (p.Val202Leu)
c.1699G>C (p.Val567Leu)
c.1414G>C (p.Val472Leu)
c.196G>C (p.Val66Leu)
n.566G>C
17g.63487034G=CA2269945081ACEc.2266G= (p.Val756=)
c.544G= (p.Val182=)
c.*336G= (n.*336G=)
c.447G= (n.447G=)
c.828G=
c.*186G= (n.*186G=)
c.34G= (p.Val12=)
n.212G=
c.1717G= (p.Val573=)
c.604G= (p.Val202=)
c.1699G= (p.Val567=)
c.1414G= (p.Val472=)
c.196G= (p.Val66=)
n.566G=
17g.63487034G>TCA8699990ACEc.2266G>T (p.Val756Leu)
c.544G>T (p.Val182Leu)
c.*336G>T (n.*336G>T)
c.447G>T (n.447G>T)
c.828G>T
c.*186G>T (n.*186G>T)
c.34G>T (p.Val12Leu)
n.212G>T
c.1717G>T (p.Val573Leu)
c.604G>T (p.Val202Leu)
c.1699G>T (p.Val567Leu)
c.1414G>T (p.Val472Leu)
c.196G>T (p.Val66Leu)
n.566G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487035T>ACA400556810ACEc.2267T>A (p.Val756Glu)
c.545T>A (p.Val182Glu)
c.*337T>A (n.*337T>A)
c.448T>A (n.448T>A)
c.829T>A
c.*187T>A (n.*187T>A)
c.35T>A (p.Val12Glu)
n.213T>A
c.1718T>A (p.Val573Glu)
c.605T>A (p.Val202Glu)
c.1700T>A (p.Val567Glu)
c.1415T>A (p.Val472Glu)
c.197T>A (p.Val66Glu)
n.567T>A
17g.63487035T>CCA8699991ACEc.2267T>C (p.Val756Ala)
c.545T>C (p.Val182Ala)
c.*337T>C (n.*337T>C)
c.448T>C (n.448T>C)
c.829T>C
c.*187T>C (n.*187T>C)
c.35T>C (p.Val12Ala)
n.213T>C
c.1718T>C (p.Val573Ala)
c.605T>C (p.Val202Ala)
c.1700T>C (p.Val567Ala)
c.1415T>C (p.Val472Ala)
c.197T>C (p.Val66Ala)
n.567T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487035T>GCA400556808ACEc.2267T>G (p.Val756Gly)
c.545T>G (p.Val182Gly)
c.*337T>G (n.*337T>G)
c.448T>G (n.448T>G)
c.829T>G
c.*187T>G (n.*187T>G)
c.35T>G (p.Val12Gly)
n.213T>G
c.1718T>G (p.Val573Gly)
c.605T>G (p.Val202Gly)
c.1700T>G (p.Val567Gly)
c.1415T>G (p.Val472Gly)
c.197T>G (p.Val66Gly)
n.567T>G
17g.63487035T=CA2269945082ACEc.2267T= (p.Val756=)
c.545T= (p.Val182=)
c.*337T= (n.*337T=)
c.448T= (n.448T=)
c.829T=
c.*187T= (n.*187T=)
c.35T= (p.Val12=)
n.213T=
c.1718T= (p.Val573=)
c.605T= (p.Val202=)
c.1700T= (p.Val567=)
c.1415T= (p.Val472=)
c.197T= (p.Val66=)
n.567T=
17g.63487036G>ACA501185429ACEc.2268G>A (p.Val756=)
c.546G>A (p.Val182=)
c.*338G>A (n.*338G>A)
c.449G>A (n.449G>A)
c.830G>A
c.*188G>A (n.*188G>A)
c.36G>A (p.Val12=)
n.214G>A
c.1719G>A (p.Val573=)
c.606G>A (p.Val202=)
c.1701G>A (p.Val567=)
c.1416G>A (p.Val472=)
c.198G>A (p.Val66=)
n.568G>A
 dbSNP gnomAD v3 gnomAD v4
17g.63487036G>CCA501185431ACEc.2268G>C (p.Val756=)
c.546G>C (p.Val182=)
c.*338G>C (n.*338G>C)
c.449G>C (n.449G>C)
c.830G>C
c.*188G>C (n.*188G>C)
c.36G>C (p.Val12=)
n.214G>C
c.1719G>C (p.Val573=)
c.606G>C (p.Val202=)
c.1701G>C (p.Val567=)
c.1416G>C (p.Val472=)
c.198G>C (p.Val66=)
n.568G>C
17g.63487036G=CA2269945083ACEc.2268G= (p.Val756=)
c.546G= (p.Val182=)
c.*338G= (n.*338G=)
c.449G= (n.449G=)
c.830G=
c.*188G= (n.*188G=)
c.36G= (p.Val12=)
n.214G=
c.1719G= (p.Val573=)
c.606G= (p.Val202=)
c.1701G= (p.Val567=)
c.1416G= (p.Val472=)
c.198G= (p.Val66=)
n.568G=
17g.63487036G>TCA501185433ACEc.2268G>T (p.Val756=)
c.546G>T (p.Val182=)
c.*338G>T (n.*338G>T)
c.449G>T (n.449G>T)
c.830G>T
c.*188G>T (n.*188G>T)
c.36G>T (p.Val12=)
n.214G>T
c.1719G>T (p.Val573=)
c.606G>T (p.Val202=)
c.1701G>T (p.Val567=)
c.1416G>T (p.Val472=)
c.198G>T (p.Val66=)
n.568G>T
17g.63487037T>ACA400556813ACEc.2269T>A (p.Cys757Ser)
c.547T>A (p.Cys183Ser)
c.*339T>A (n.*339T>A)
c.450T>A (n.450T>A)
c.831T>A
c.*189T>A (n.*189T>A)
c.37T>A (p.Cys13Ser)
n.215T>A
c.1720T>A (p.Cys574Ser)
c.607T>A (p.Cys203Ser)
c.1702T>A (p.Cys568Ser)
c.1417T>A (p.Cys473Ser)
c.199T>A (p.Cys67Ser)
n.569T>A
17g.63487037T>CCA400556814ACEc.2269T>C (p.Cys757Arg)
c.547T>C (p.Cys183Arg)
c.*339T>C (n.*339T>C)
c.450T>C (n.450T>C)
c.831T>C
c.*189T>C (n.*189T>C)
c.37T>C (p.Cys13Arg)
n.215T>C
c.1720T>C (p.Cys574Arg)
c.607T>C (p.Cys203Arg)
c.1702T>C (p.Cys568Arg)
c.1417T>C (p.Cys473Arg)
c.199T>C (p.Cys67Arg)
n.569T>C
17g.63487037T>GCA400556816ACEc.2269T>G (p.Cys757Gly)
c.547T>G (p.Cys183Gly)
c.*339T>G (n.*339T>G)
c.450T>G (n.450T>G)
c.831T>G
c.*189T>G (n.*189T>G)
c.37T>G (p.Cys13Gly)
n.215T>G
c.1720T>G (p.Cys574Gly)
c.607T>G (p.Cys203Gly)
c.1702T>G (p.Cys568Gly)
c.1417T>G (p.Cys473Gly)
c.199T>G (p.Cys67Gly)
n.569T>G
17g.63487038G>ACA400556819ACEc.2270G>A (p.Cys757Tyr)
c.548G>A (p.Cys183Tyr)
c.*340G>A (n.*340G>A)
c.451G>A (n.451G>A)
c.832G>A
c.*190G>A (n.*190G>A)
c.38G>A (p.Cys13Tyr)
n.216G>A
c.1721G>A (p.Cys574Tyr)
c.608G>A (p.Cys203Tyr)
c.1703G>A (p.Cys568Tyr)
c.1418G>A (p.Cys473Tyr)
c.200G>A (p.Cys67Tyr)
n.570G>A
 dbSNP gnomAD v2 gnomAD v4
17g.63487038G>CCA400556820ACEc.2270G>C (p.Cys757Ser)
c.548G>C (p.Cys183Ser)
c.*340G>C (n.*340G>C)
c.451G>C (n.451G>C)
c.832G>C
c.*190G>C (n.*190G>C)
c.38G>C (p.Cys13Ser)
n.216G>C
c.1721G>C (p.Cys574Ser)
c.608G>C (p.Cys203Ser)
c.1703G>C (p.Cys568Ser)
c.1418G>C (p.Cys473Ser)
c.200G>C (p.Cys67Ser)
n.570G>C
17g.63487038G=CA2269945084ACEc.2270G= (p.Cys757=)
c.548G= (p.Cys183=)
c.*340G= (n.*340G=)
c.451G= (n.451G=)
c.832G=
c.*190G= (n.*190G=)
c.38G= (p.Cys13=)
n.216G=
c.1721G= (p.Cys574=)
c.608G= (p.Cys203=)
c.1703G= (p.Cys568=)
c.1418G= (p.Cys473=)
c.200G= (p.Cys67=)
n.570G=
17g.63487038G>TCA400556822ACEc.2270G>T (p.Cys757Phe)
c.548G>T (p.Cys183Phe)
c.*340G>T (n.*340G>T)
c.451G>T (n.451G>T)
c.832G>T
c.*190G>T (n.*190G>T)
c.38G>T (p.Cys13Phe)
n.216G>T
c.1721G>T (p.Cys574Phe)
c.608G>T (p.Cys203Phe)
c.1703G>T (p.Cys568Phe)
c.1418G>T (p.Cys473Phe)
c.200G>T (p.Cys67Phe)
n.570G>T
17g.63487039C>ACA400556824ACEc.2271C>A (p.Cys757Ter)
c.549C>A (p.Cys183Ter)
c.*341C>A (n.*341C>A)
c.452C>A (n.452C>A)
c.833C>A
c.*191C>A (n.*191C>A)
c.39C>A (p.Cys13Ter)
n.217C>A
c.1722C>A (p.Cys574Ter)
c.609C>A (p.Cys203Ter)
c.1704C>A (p.Cys568Ter)
c.1419C>A (p.Cys473Ter)
c.201C>A (p.Cys67Ter)
n.571C>A
17g.63487039C>GCA400556826ACEc.2271C>G (p.Cys757Trp)
c.549C>G (p.Cys183Trp)
c.*341C>G (n.*341C>G)
c.452C>G (n.452C>G)
c.833C>G
c.*191C>G (n.*191C>G)
c.39C>G (p.Cys13Trp)
n.217C>G
c.1722C>G (p.Cys574Trp)
c.609C>G (p.Cys203Trp)
c.1704C>G (p.Cys568Trp)
c.1419C>G (p.Cys473Trp)
c.201C>G (p.Cys67Trp)
n.571C>G
17g.63487039C>TCA501185442ACEc.2271C>T (p.Cys757=)
c.549C>T (p.Cys183=)
c.*341C>T (n.*341C>T)
c.452C>T (n.452C>T)
c.833C>T
c.*191C>T (n.*191C>T)
c.39C>T (p.Cys13=)
n.217C>T
c.1722C>T (p.Cys574=)
c.609C>T (p.Cys203=)
c.1704C>T (p.Cys568=)
c.1419C>T (p.Cys473=)
c.201C>T (p.Cys67=)
n.571C>T
17g.63487040C>ACA400556828ACEc.2272C>A (p.His758Asn)
c.550C>A (p.His184Asn)
c.*342C>A (n.*342C>A)
c.453C>A (n.453C>A)
c.834C>A
c.*192C>A (n.*192C>A)
c.40C>A (p.His14Asn)
n.218C>A
c.1723C>A (p.His575Asn)
c.610C>A (p.His204Asn)
c.1705C>A (p.His569Asn)
c.1420C>A (p.His474Asn)
c.202C>A (p.His68Asn)
n.572C>A
17g.63487040C>GCA400556830ACEc.2272C>G (p.His758Asp)
c.550C>G (p.His184Asp)
c.*342C>G (n.*342C>G)
c.453C>G (n.453C>G)
c.834C>G
c.*192C>G (n.*192C>G)
c.40C>G (p.His14Asp)
n.218C>G
c.1723C>G (p.His575Asp)
c.610C>G (p.His204Asp)
c.1705C>G (p.His569Asp)
c.1420C>G (p.His474Asp)
c.202C>G (p.His68Asp)
n.572C>G
17g.63487040C>TCA400556832ACEc.2272C>T (p.His758Tyr)
c.550C>T (p.His184Tyr)
c.*342C>T (n.*342C>T)
c.453C>T (n.453C>T)
c.834C>T
c.*192C>T (n.*192C>T)
c.40C>T (p.His14Tyr)
n.218C>T
c.1723C>T (p.His575Tyr)
c.610C>T (p.His204Tyr)
c.1705C>T (p.His569Tyr)
c.1420C>T (p.His474Tyr)
c.202C>T (p.His68Tyr)
n.572C>T
17g.63487041A=CA2269945085ACEc.2273A= (p.His758=)
c.551A= (p.His184=)
c.*343A= (n.*343A=)
c.454A= (n.454A=)
c.835A=
c.*193A= (n.*193A=)
c.41A= (p.His14=)
n.219A=
c.1724A= (p.His575=)
c.611A= (p.His204=)
c.1706A= (p.His569=)
c.1421A= (p.His474=)
c.203A= (p.His68=)
n.573A=
17g.63487041A>CCA400556838ACEc.2273A>C (p.His758Pro)
c.551A>C (p.His184Pro)
c.*343A>C (n.*343A>C)
c.454A>C (n.454A>C)
c.835A>C
c.*193A>C (n.*193A>C)
c.41A>C (p.His14Pro)
n.219A>C
c.1724A>C (p.His575Pro)
c.611A>C (p.His204Pro)
c.1706A>C (p.His569Pro)
c.1421A>C (p.His474Pro)
c.203A>C (p.His68Pro)
n.573A>C
 dbSNP
17g.63487041A>GCA400556836ACEc.2273A>G (p.His758Arg)
c.551A>G (p.His184Arg)
c.*343A>G (n.*343A>G)
c.454A>G (n.454A>G)
c.835A>G
c.*193A>G (n.*193A>G)
c.41A>G (p.His14Arg)
n.219A>G
c.1724A>G (p.His575Arg)
c.611A>G (p.His204Arg)
c.1706A>G (p.His569Arg)
c.1421A>G (p.His474Arg)
c.203A>G (p.His68Arg)
n.573A>G
17g.63487041A>TCA400556835ACEc.2273A>T (p.His758Leu)
c.551A>T (p.His184Leu)
c.*343A>T (n.*343A>T)
c.454A>T (n.454A>T)
c.835A>T
c.*193A>T (n.*193A>T)
c.41A>T (p.His14Leu)
n.219A>T
c.1724A>T (p.His575Leu)
c.611A>T (p.His204Leu)
c.1706A>T (p.His569Leu)
c.1421A>T (p.His474Leu)
c.203A>T (p.His68Leu)
n.573A>T
17g.63487042C>ACA400556841ACEc.2274C>A (p.His758Gln)
c.552C>A (p.His184Gln)
c.*344C>A (n.*344C>A)
c.455C>A (n.455C>A)
c.836C>A
c.*194C>A (n.*194C>A)
c.42C>A (p.His14Gln)
n.220C>A
c.1725C>A (p.His575Gln)
c.612C>A (p.His204Gln)
c.1707C>A (p.His569Gln)
c.1422C>A (p.His474Gln)
c.204C>A (p.His68Gln)
n.574C>A
17g.63487042C>GCA400556843ACEc.2274C>G (p.His758Gln)
c.552C>G (p.His184Gln)
c.*344C>G (n.*344C>G)
c.455C>G (n.455C>G)
c.836C>G
c.*194C>G (n.*194C>G)
c.42C>G (p.His14Gln)
n.220C>G
c.1725C>G (p.His575Gln)
c.612C>G (p.His204Gln)
c.1707C>G (p.His569Gln)
c.1422C>G (p.His474Gln)
c.204C>G (p.His68Gln)
n.574C>G
17g.63487042C>TCA501185454ACEc.2274C>T (p.His758=)
c.552C>T (p.His184=)
c.*344C>T (n.*344C>T)
c.455C>T (n.455C>T)
c.836C>T
c.*194C>T (n.*194C>T)
c.42C>T (p.His14=)
n.220C>T
c.1725C>T (p.His575=)
c.612C>T (p.His204=)
c.1707C>T (p.His569=)
c.1422C>T (p.His474=)
c.204C>T (p.His68=)
n.574C>T
17g.63487043C>ACA400556845ACEc.2275C>A (p.Pro759Thr)
c.553C>A (p.Pro185Thr)
c.*345C>A (n.*345C>A)
c.456C>A (n.456C>A)
c.837C>A
c.*195C>A (n.*195C>A)
c.43C>A (p.Pro15Thr)
n.221C>A
c.1726C>A (p.Pro576Thr)
c.613C>A (p.Pro205Thr)
c.1708C>A (p.Pro570Thr)
c.1423C>A (p.Pro475Thr)
c.205C>A (p.Pro69Thr)
n.575C>A
 dbSNP
17g.63487043C=CA2269945086ACEc.2275C= (p.Pro759=)
c.553C= (p.Pro185=)
c.*345C= (n.*345C=)
c.456C= (n.456C=)
c.837C=
c.*195C= (n.*195C=)
c.43C= (p.Pro15=)
n.221C=
c.1726C= (p.Pro576=)
c.613C= (p.Pro205=)
c.1708C= (p.Pro570=)
c.1423C= (p.Pro475=)
c.205C= (p.Pro69=)
n.575C=
17g.63487043C>GCA400556847ACEc.2275C>G (p.Pro759Ala)
c.553C>G (p.Pro185Ala)
c.*345C>G (n.*345C>G)
c.456C>G (n.456C>G)
c.837C>G
c.*195C>G (n.*195C>G)
c.43C>G (p.Pro15Ala)
n.221C>G
c.1726C>G (p.Pro576Ala)
c.613C>G (p.Pro205Ala)
c.1708C>G (p.Pro570Ala)
c.1423C>G (p.Pro475Ala)
c.205C>G (p.Pro69Ala)
n.575C>G
17g.63487043C>TCA400556849ACEc.2275C>T (p.Pro759Ser)
c.553C>T (p.Pro185Ser)
c.*345C>T (n.*345C>T)
c.456C>T (n.456C>T)
c.837C>T
c.*195C>T (n.*195C>T)
c.43C>T (p.Pro15Ser)
n.221C>T
c.1726C>T (p.Pro576Ser)
c.613C>T (p.Pro205Ser)
c.1708C>T (p.Pro570Ser)
c.1423C>T (p.Pro475Ser)
c.205C>T (p.Pro69Ser)
n.575C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
17g.63487044C>ACA292881842ACEc.2276C>A (p.Pro759Gln)
c.554C>A (p.Pro185Gln)
c.*346C>A (n.*346C>A)
c.457C>A (n.457C>A)
c.838C>A
c.*196C>A (n.*196C>A)
c.44C>A (p.Pro15Gln)
n.222C>A
c.1727C>A (p.Pro576Gln)
c.614C>A (p.Pro205Gln)
c.1709C>A (p.Pro570Gln)
c.1424C>A (p.Pro475Gln)
c.206C>A (p.Pro69Gln)
n.576C>A
 dbSNP gnomAD v3 gnomAD v4
17g.63487044C=CA2269945087ACEc.2276C= (p.Pro759=)
c.554C= (p.Pro185=)
c.*346C= (n.*346C=)
c.457C= (n.457C=)
c.838C=
c.*196C= (n.*196C=)
c.44C= (p.Pro15=)
n.222C=
c.1727C= (p.Pro576=)
c.614C= (p.Pro205=)
c.1709C= (p.Pro570=)
c.1424C= (p.Pro475=)
c.206C= (p.Pro69=)
n.576C=
17g.63487044C>GCA400556852ACEc.2276C>G (p.Pro759Arg)
c.554C>G (p.Pro185Arg)
c.*346C>G (n.*346C>G)
c.457C>G (n.457C>G)
c.838C>G
c.*196C>G (n.*196C>G)
c.44C>G (p.Pro15Arg)
n.222C>G
c.1727C>G (p.Pro576Arg)
c.614C>G (p.Pro205Arg)
c.1709C>G (p.Pro570Arg)
c.1424C>G (p.Pro475Arg)
c.206C>G (p.Pro69Arg)
n.576C>G
17g.63487044C>TCA8699992ACEc.2276C>T (p.Pro759Leu)
c.554C>T (p.Pro185Leu)
c.*346C>T (n.*346C>T)
c.457C>T (n.457C>T)
c.838C>T
c.*196C>T (n.*196C>T)
c.44C>T (p.Pro15Leu)
n.222C>T
c.1727C>T (p.Pro576Leu)
c.614C>T (p.Pro205Leu)
c.1709C>T (p.Pro570Leu)
c.1424C>T (p.Pro475Leu)
c.206C>T (p.Pro69Leu)
n.576C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487045G>ACA8699994ACEc.2277G>A (p.Pro759=)
c.555G>A (p.Pro185=)
c.*347G>A (n.*347G>A)
c.458G>A (n.458G>A)
c.839G>A
c.*197G>A (n.*197G>A)
c.45G>A (p.Pro15=)
n.223G>A
c.1728G>A (p.Pro576=)
c.615G>A (p.Pro205=)
c.1710G>A (p.Pro570=)
c.1425G>A (p.Pro475=)
c.207G>A (p.Pro69=)
n.577G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487045G>CCA501185465ACEc.2277G>C (p.Pro759=)
c.555G>C (p.Pro185=)
c.*347G>C (n.*347G>C)
c.458G>C (n.458G>C)
c.839G>C
c.*197G>C (n.*197G>C)
c.45G>C (p.Pro15=)
n.223G>C
c.1728G>C (p.Pro576=)
c.615G>C (p.Pro205=)
c.1710G>C (p.Pro570=)
c.1425G>C (p.Pro475=)
c.207G>C (p.Pro69=)
n.577G>C
17g.63487045G=CA2269945088ACEc.2277G= (p.Pro759=)
c.555G= (p.Pro185=)
c.*347G= (n.*347G=)
c.458G= (n.458G=)
c.839G=
c.*197G= (n.*197G=)
c.45G= (p.Pro15=)
n.223G=
c.1728G= (p.Pro576=)
c.615G= (p.Pro205=)
c.1710G= (p.Pro570=)
c.1425G= (p.Pro475=)
c.207G= (p.Pro69=)
n.577G=
17g.63487045G>TCA8699993ACEc.2277G>T (p.Pro759=)
c.555G>T (p.Pro185=)
c.*347G>T (n.*347G>T)
c.458G>T (n.458G>T)
c.839G>T
c.*197G>T (n.*197G>T)
c.45G>T (p.Pro15=)
n.223G>T
c.1728G>T (p.Pro576=)
c.615G>T (p.Pro205=)
c.1710G>T (p.Pro570=)
c.1425G>T (p.Pro475=)
c.207G>T (p.Pro69=)
n.577G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487046A>CCA400556857ACEc.2278A>C (p.Asn760His)
c.556A>C (p.Asn186His)
c.*348A>C (n.*348A>C)
c.459A>C (n.459A>C)
c.840A>C
c.*198A>C (n.*198A>C)
c.46A>C (p.Asn16His)
n.224A>C
c.1729A>C (p.Asn577His)
c.616A>C (p.Asn206His)
c.1711A>C (p.Asn571His)
c.1426A>C (p.Asn476His)
c.208A>C (p.Asn70His)
n.578A>C
17g.63487046A>GCA400556859ACEc.2278A>G (p.Asn760Asp)
c.556A>G (p.Asn186Asp)
c.*348A>G (n.*348A>G)
c.459A>G (n.459A>G)
c.840A>G
c.*198A>G (n.*198A>G)
c.46A>G (p.Asn16Asp)
n.224A>G
c.1729A>G (p.Asn577Asp)
c.616A>G (p.Asn206Asp)
c.1711A>G (p.Asn571Asp)
c.1426A>G (p.Asn476Asp)
c.208A>G (p.Asn70Asp)
n.578A>G
17g.63487046A>TCA400556861ACEc.2278A>T (p.Asn760Tyr)
c.556A>T (p.Asn186Tyr)
c.*348A>T (n.*348A>T)
c.459A>T (n.459A>T)
c.840A>T
c.*198A>T (n.*198A>T)
c.46A>T (p.Asn16Tyr)
n.224A>T
c.1729A>T (p.Asn577Tyr)
c.616A>T (p.Asn206Tyr)
c.1711A>T (p.Asn571Tyr)
c.1426A>T (p.Asn476Tyr)
c.208A>T (p.Asn70Tyr)
n.578A>T
17g.63487047A>CCA400556863ACEc.2279A>C (p.Asn760Thr)
c.557A>C (p.Asn186Thr)
c.*349A>C (n.*349A>C)
c.460A>C (n.460A>C)
c.841A>C
c.*199A>C (n.*199A>C)
c.47A>C (p.Asn16Thr)
n.225A>C
c.1730A>C (p.Asn577Thr)
c.617A>C (p.Asn206Thr)
c.1712A>C (p.Asn571Thr)
c.1427A>C (p.Asn476Thr)
c.209A>C (p.Asn70Thr)
n.579A>C
17g.63487047A>GCA400556866ACEc.2279A>G (p.Asn760Ser)
c.557A>G (p.Asn186Ser)
c.*349A>G (n.*349A>G)
c.460A>G (n.460A>G)
c.841A>G
c.*199A>G (n.*199A>G)
c.47A>G (p.Asn16Ser)
n.225A>G
c.1730A>G (p.Asn577Ser)
c.617A>G (p.Asn206Ser)
c.1712A>G (p.Asn571Ser)
c.1427A>G (p.Asn476Ser)
c.209A>G (p.Asn70Ser)
n.579A>G
 gnomAD v4
17g.63487047A>TCA400556865ACEc.2279A>T (p.Asn760Ile)
c.557A>T (p.Asn186Ile)
c.*349A>T (n.*349A>T)
c.460A>T (n.460A>T)
c.841A>T
c.*199A>T (n.*199A>T)
c.47A>T (p.Asn16Ile)
n.225A>T
c.1730A>T (p.Asn577Ile)
c.617A>T (p.Asn206Ile)
c.1712A>T (p.Asn571Ile)
c.1427A>T (p.Asn476Ile)
c.209A>T (p.Asn70Ile)
n.579A>T
17g.63487048T>ACA400556868ACEc.2280T>A (p.Asn760Lys)
c.558T>A (p.Asn186Lys)
c.*350T>A (n.*350T>A)
c.461T>A (n.461T>A)
c.842T>A
c.*200T>A (n.*200T>A)
c.48T>A (p.Asn16Lys)
n.226T>A
c.1731T>A (p.Asn577Lys)
c.618T>A (p.Asn206Lys)
c.1713T>A (p.Asn571Lys)
c.1428T>A (p.Asn476Lys)
c.210T>A (p.Asn70Lys)
n.580T>A
17g.63487048T>CCA501185477ACEc.2280T>C (p.Asn760=)
c.558T>C (p.Asn186=)
c.*350T>C (n.*350T>C)
c.461T>C (n.461T>C)
c.842T>C
c.*200T>C (n.*200T>C)
c.48T>C (p.Asn16=)
n.226T>C
c.1731T>C (p.Asn577=)
c.618T>C (p.Asn206=)
c.1713T>C (p.Asn571=)
c.1428T>C (p.Asn476=)
c.210T>C (p.Asn70=)
n.580T>C
 gnomAD v4
17g.63487048T>GCA400556871ACEc.2280T>G (p.Asn760Lys)
c.558T>G (p.Asn186Lys)
c.*350T>G (n.*350T>G)
c.461T>G (n.461T>G)
c.842T>G
c.*200T>G (n.*200T>G)
c.48T>G (p.Asn16Lys)
n.226T>G
c.1731T>G (p.Asn577Lys)
c.618T>G (p.Asn206Lys)
c.1713T>G (p.Asn571Lys)
c.1428T>G (p.Asn476Lys)
c.210T>G (p.Asn70Lys)
n.580T>G
17g.63487049G>ACA400556873ACEc.2281G>A (p.Gly761Ser)
c.559G>A (p.Gly187Ser)
c.*351G>A (n.*351G>A)
c.462G>A (n.462G>A)
c.843G>A
c.*201G>A (n.*201G>A)
c.49G>A (p.Gly17Ser)
n.227G>A
c.1732G>A (p.Gly578Ser)
c.619G>A (p.Gly207Ser)
c.1714G>A (p.Gly572Ser)
c.1429G>A (p.Gly477Ser)
c.211G>A (p.Gly71Ser)
n.581G>A
17g.63487049G>CCA400556874ACEc.2281G>C (p.Gly761Arg)
c.559G>C (p.Gly187Arg)
c.*351G>C (n.*351G>C)
c.462G>C (n.462G>C)
c.843G>C
c.*201G>C (n.*201G>C)
c.49G>C (p.Gly17Arg)
n.227G>C
c.1732G>C (p.Gly578Arg)
c.619G>C (p.Gly207Arg)
c.1714G>C (p.Gly572Arg)
c.1429G>C (p.Gly477Arg)
c.211G>C (p.Gly71Arg)
n.581G>C
17g.63487049G>TCA400556876ACEc.2281G>T (p.Gly761Cys)
c.559G>T (p.Gly187Cys)
c.*351G>T (n.*351G>T)
c.462G>T (n.462G>T)
c.843G>T
c.*201G>T (n.*201G>T)
c.49G>T (p.Gly17Cys)
n.227G>T
c.1732G>T (p.Gly578Cys)
c.619G>T (p.Gly207Cys)
c.1714G>T (p.Gly572Cys)
c.1429G>T (p.Gly477Cys)
c.211G>T (p.Gly71Cys)
n.581G>T
17g.63487050G>ACA400556879ACEc.2282G>A (p.Gly761Asp)
c.560G>A (p.Gly187Asp)
c.*352G>A (n.*352G>A)
c.463G>A (n.463G>A)
c.844G>A
c.*202G>A (n.*202G>A)
c.50G>A (p.Gly17Asp)
n.228G>A
c.1733G>A (p.Gly578Asp)
c.620G>A (p.Gly207Asp)
c.1715G>A (p.Gly572Asp)
c.1430G>A (p.Gly477Asp)
c.212G>A (p.Gly71Asp)
n.582G>A
17g.63487050G>CCA400556880ACEc.2282G>C (p.Gly761Ala)
c.560G>C (p.Gly187Ala)
c.*352G>C (n.*352G>C)
c.463G>C (n.463G>C)
c.844G>C
c.*202G>C (n.*202G>C)
c.50G>C (p.Gly17Ala)
n.228G>C
c.1733G>C (p.Gly578Ala)
c.620G>C (p.Gly207Ala)
c.1715G>C (p.Gly572Ala)
c.1430G>C (p.Gly477Ala)
c.212G>C (p.Gly71Ala)
n.582G>C
17g.63487050G>TCA400556882ACEc.2282G>T (p.Gly761Val)
c.560G>T (p.Gly187Val)
c.*352G>T (n.*352G>T)
c.463G>T (n.463G>T)
c.844G>T
c.*202G>T (n.*202G>T)
c.50G>T (p.Gly17Val)
n.228G>T
c.1733G>T (p.Gly578Val)
c.620G>T (p.Gly207Val)
c.1715G>T (p.Gly572Val)
c.1430G>T (p.Gly477Val)
c.212G>T (p.Gly71Val)
n.582G>T
17g.63487051C>ACA501185488ACEc.2283C>A (p.Gly761=)
c.561C>A (p.Gly187=)
c.*353C>A (n.*353C>A)
c.464C>A (n.464C>A)
c.845C>A
c.*203C>A (n.*203C>A)
c.51C>A (p.Gly17=)
n.229C>A
c.1734C>A (p.Gly578=)
c.621C>A (p.Gly207=)
c.1716C>A (p.Gly572=)
c.1431C>A (p.Gly477=)
c.213C>A (p.Gly71=)
n.583C>A
17g.63487051C>GCA501185490ACEc.2283C>G (p.Gly761=)
c.561C>G (p.Gly187=)
c.*353C>G (n.*353C>G)
c.464C>G (n.464C>G)
c.845C>G
c.*203C>G (n.*203C>G)
c.51C>G (p.Gly17=)
n.229C>G
c.1734C>G (p.Gly578=)
c.621C>G (p.Gly207=)
c.1716C>G (p.Gly572=)
c.1431C>G (p.Gly477=)
c.213C>G (p.Gly71=)
n.583C>G
17g.63487051C>TCA501185492ACEc.2283C>T (p.Gly761=)
c.561C>T (p.Gly187=)
c.*353C>T (n.*353C>T)
c.464C>T (n.464C>T)
c.845C>T
c.*203C>T (n.*203C>T)
c.51C>T (p.Gly17=)
n.229C>T
c.1734C>T (p.Gly578=)
c.621C>T (p.Gly207=)
c.1716C>T (p.Gly572=)
c.1431C>T (p.Gly477=)
c.213C>T (p.Gly71=)
n.583C>T
 gnomAD v4
17g.63487052A>CCA400556884ACEc.2284A>C (p.Ser762Arg)
c.562A>C (p.Ser188Arg)
c.*354A>C (n.*354A>C)
c.465A>C (n.465A>C)
c.846A>C
c.*204A>C (n.*204A>C)
c.52A>C (p.Ser18Arg)
n.230A>C
c.1735A>C (p.Ser579Arg)
c.622A>C (p.Ser208Arg)
c.1717A>C (p.Ser573Arg)
c.1432A>C (p.Ser478Arg)
c.214A>C (p.Ser72Arg)
n.584A>C
17g.63487052A>GCA400556886ACEc.2284A>G (p.Ser762Gly)
c.562A>G (p.Ser188Gly)
c.*354A>G (n.*354A>G)
c.465A>G (n.465A>G)
c.846A>G
c.*204A>G (n.*204A>G)
c.52A>G (p.Ser18Gly)
n.230A>G
c.1735A>G (p.Ser579Gly)
c.622A>G (p.Ser208Gly)
c.1717A>G (p.Ser573Gly)
c.1432A>G (p.Ser478Gly)
c.214A>G (p.Ser72Gly)
n.584A>G
17g.63487052A>TCA400556888ACEc.2284A>T (p.Ser762Cys)
c.562A>T (p.Ser188Cys)
c.*354A>T (n.*354A>T)
c.465A>T (n.465A>T)
c.846A>T
c.*204A>T (n.*204A>T)
c.52A>T (p.Ser18Cys)
n.230A>T
c.1735A>T (p.Ser579Cys)
c.622A>T (p.Ser208Cys)
c.1717A>T (p.Ser573Cys)
c.1432A>T (p.Ser478Cys)
c.214A>T (p.Ser72Cys)
n.584A>T
17g.63487053G>ACA400556892ACEc.2285G>A (p.Ser762Asn)
c.563G>A (p.Ser188Asn)
c.*355G>A (n.*355G>A)
c.466G>A (n.466G>A)
c.847G>A
c.*205G>A (n.*205G>A)
c.53G>A (p.Ser18Asn)
n.231G>A
c.1736G>A (p.Ser579Asn)
c.623G>A (p.Ser208Asn)
c.1718G>A (p.Ser573Asn)
c.1433G>A (p.Ser478Asn)
c.215G>A (p.Ser72Asn)
n.585G>A
17g.63487053G>CCA400556894ACEc.2285G>C (p.Ser762Thr)
c.563G>C (p.Ser188Thr)
c.*355G>C (n.*355G>C)
c.466G>C (n.466G>C)
c.847G>C
c.*205G>C (n.*205G>C)
c.53G>C (p.Ser18Thr)
n.231G>C
c.1736G>C (p.Ser579Thr)
c.623G>C (p.Ser208Thr)
c.1718G>C (p.Ser573Thr)
c.1433G>C (p.Ser478Thr)
c.215G>C (p.Ser72Thr)
n.585G>C
17g.63487053G>TCA400556890ACEc.2285G>T (p.Ser762Ile)
c.563G>T (p.Ser188Ile)
c.*355G>T (n.*355G>T)
c.466G>T (n.466G>T)
c.847G>T
c.*205G>T (n.*205G>T)
c.53G>T (p.Ser18Ile)
n.231G>T
c.1736G>T (p.Ser579Ile)
c.623G>T (p.Ser208Ile)
c.1718G>T (p.Ser573Ile)
c.1433G>T (p.Ser478Ile)
c.215G>T (p.Ser72Ile)
n.585G>T
17g.63487054delCA2639263344ACEc.2286del (p.Cys763AlafsTer8)
c.564del (p.Cys189AlafsTer8)
c.*356del (n.*356del)
c.467del (n.467del)
c.848del
c.*206del (n.*206del)
c.54del (p.Cys19AlafsTer8)
n.232del
c.1737del (p.Cys580AlafsTer8)
c.624del (p.Cys209AlafsTer8)
c.1719del (p.Cys574AlafsTer8)
c.1434del (p.Cys479AlafsTer8)
c.216del (p.Cys73AlafsTer8)
n.586del
 gnomAD v4
17g.63487054C>ACA400556898ACEc.2286C>A (p.Ser762Arg)
c.564C>A (p.Ser188Arg)
c.*356C>A (n.*356C>A)
c.467C>A (n.467C>A)
c.848C>A
c.*206C>A (n.*206C>A)
c.54C>A (p.Ser18Arg)
n.232C>A
c.1737C>A (p.Ser579Arg)
c.624C>A (p.Ser208Arg)
c.1719C>A (p.Ser573Arg)
c.1434C>A (p.Ser478Arg)
c.216C>A (p.Ser72Arg)
n.586C>A
17g.63487054C=CA2269945089ACEc.2286C= (p.Ser762=)
c.564C= (p.Ser188=)
c.*356C= (n.*356C=)
c.467C= (n.467C=)
c.848C=
c.*206C= (n.*206C=)
c.54C= (p.Ser18=)
n.232C=
c.1737C= (p.Ser579=)
c.624C= (p.Ser208=)
c.1719C= (p.Ser573=)
c.1434C= (p.Ser478=)
c.216C= (p.Ser72=)
n.586C=
17g.63487054C>GCA400556897ACEc.2286C>G (p.Ser762Arg)
c.564C>G (p.Ser188Arg)
c.*356C>G (n.*356C>G)
c.467C>G (n.467C>G)
c.848C>G
c.*206C>G (n.*206C>G)
c.54C>G (p.Ser18Arg)
n.232C>G
c.1737C>G (p.Ser579Arg)
c.624C>G (p.Ser208Arg)
c.1719C>G (p.Ser573Arg)
c.1434C>G (p.Ser478Arg)
c.216C>G (p.Ser72Arg)
n.586C>G
17g.63487054C>TCA501185503ACEc.2286C>T (p.Ser762=)
c.564C>T (p.Ser188=)
c.*356C>T (n.*356C>T)
c.467C>T (n.467C>T)
c.848C>T
c.*206C>T (n.*206C>T)
c.54C>T (p.Ser18=)
n.232C>T
c.1737C>T (p.Ser579=)
c.624C>T (p.Ser208=)
c.1719C>T (p.Ser573=)
c.1434C>T (p.Ser478=)
c.216C>T (p.Ser72=)
n.586C>T
 dbSNP gnomAD v3 gnomAD v4
17g.63487055T>ACA400556904ACEc.2287T>A (p.Cys763Ser)
c.565T>A (p.Cys189Ser)
c.*357T>A (n.*357T>A)
c.468T>A (n.468T>A)
c.849T>A
c.*207T>A (n.*207T>A)
c.55T>A (p.Cys19Ser)
n.233T>A
c.1738T>A (p.Cys580Ser)
c.625T>A (p.Cys209Ser)
c.1720T>A (p.Cys574Ser)
c.1435T>A (p.Cys479Ser)
c.217T>A (p.Cys73Ser)
n.587T>A
17g.63487055T>CCA400556900ACEc.2287T>C (p.Cys763Arg)
c.565T>C (p.Cys189Arg)
c.*357T>C (n.*357T>C)
c.468T>C (n.468T>C)
c.849T>C
c.*207T>C (n.*207T>C)
c.55T>C (p.Cys19Arg)
n.233T>C
c.1738T>C (p.Cys580Arg)
c.625T>C (p.Cys209Arg)
c.1720T>C (p.Cys574Arg)
c.1435T>C (p.Cys479Arg)
c.217T>C (p.Cys73Arg)
n.587T>C
17g.63487055T>GCA400556902ACEc.2287T>G (p.Cys763Gly)
c.565T>G (p.Cys189Gly)
c.*357T>G (n.*357T>G)
c.468T>G (n.468T>G)
c.849T>G
c.*207T>G (n.*207T>G)
c.55T>G (p.Cys19Gly)
n.233T>G
c.1738T>G (p.Cys580Gly)
c.625T>G (p.Cys209Gly)
c.1720T>G (p.Cys574Gly)
c.1435T>G (p.Cys479Gly)
c.217T>G (p.Cys73Gly)
n.587T>G
17g.63487056G>ACA8699995ACEc.2288G>A (p.Cys763Tyr)
c.566G>A (p.Cys189Tyr)
c.*358G>A (n.*358G>A)
c.469G>A (n.469G>A)
c.850G>A
c.*208G>A (n.*208G>A)
c.56G>A (p.Cys19Tyr)
n.234G>A
c.1739G>A (p.Cys580Tyr)
c.626G>A (p.Cys209Tyr)
c.1721G>A (p.Cys574Tyr)
c.1436G>A (p.Cys479Tyr)
c.218G>A (p.Cys73Tyr)
n.588G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487056G>CCA292881873ACEc.2288G>C (p.Cys763Ser)
c.566G>C (p.Cys189Ser)
c.*358G>C (n.*358G>C)
c.469G>C (n.469G>C)
c.850G>C
c.*208G>C (n.*208G>C)
c.56G>C (p.Cys19Ser)
n.234G>C
c.1739G>C (p.Cys580Ser)
c.626G>C (p.Cys209Ser)
c.1721G>C (p.Cys574Ser)
c.1436G>C (p.Cys479Ser)
c.218G>C (p.Cys73Ser)
n.588G>C
 dbSNP
17g.63487056G=CA2269945090ACEc.2288G= (p.Cys763=)
c.566G= (p.Cys189=)
c.*358G= (n.*358G=)
c.469G= (n.469G=)
c.850G=
c.*208G= (n.*208G=)
c.56G= (p.Cys19=)
n.234G=
c.1739G= (p.Cys580=)
c.626G= (p.Cys209=)
c.1721G= (p.Cys574=)
c.1436G= (p.Cys479=)
c.218G= (p.Cys73=)
n.588G=
17g.63487056G>TCA400556909ACEc.2288G>T (p.Cys763Phe)
c.566G>T (p.Cys189Phe)
c.*358G>T (n.*358G>T)
c.469G>T (n.469G>T)
c.850G>T
c.*208G>T (n.*208G>T)
c.56G>T (p.Cys19Phe)
n.234G>T
c.1739G>T (p.Cys580Phe)
c.626G>T (p.Cys209Phe)
c.1721G>T (p.Cys574Phe)
c.1436G>T (p.Cys479Phe)
c.218G>T (p.Cys73Phe)
n.588G>T
 gnomAD v4
17g.63487057C>ACA400556911ACEc.2289C>A (p.Cys763Ter)
c.567C>A (p.Cys189Ter)
c.*359C>A (n.*359C>A)
c.470C>A (n.470C>A)
c.851C>A
c.*209C>A (n.*209C>A)
c.57C>A (p.Cys19Ter)
n.235C>A
c.1740C>A (p.Cys580Ter)
c.627C>A (p.Cys209Ter)
c.1722C>A (p.Cys574Ter)
c.1437C>A (p.Cys479Ter)
c.219C>A (p.Cys73Ter)
n.589C>A
17g.63487057C=CA2269945091ACEc.2289C= (p.Cys763=)
c.567C= (p.Cys189=)
c.*359C= (n.*359C=)
c.470C= (n.470C=)
c.851C=
c.*209C= (n.*209C=)
c.57C= (p.Cys19=)
n.235C=
c.1740C= (p.Cys580=)
c.627C= (p.Cys209=)
c.1722C= (p.Cys574=)
c.1437C= (p.Cys479=)
c.219C= (p.Cys73=)
n.589C=
17g.63487057C>GCA400556913ACEc.2289C>G (p.Cys763Trp)
c.567C>G (p.Cys189Trp)
c.*359C>G (n.*359C>G)
c.470C>G (n.470C>G)
c.851C>G
c.*209C>G (n.*209C>G)
c.57C>G (p.Cys19Trp)
n.235C>G
c.1740C>G (p.Cys580Trp)
c.627C>G (p.Cys209Trp)
c.1722C>G (p.Cys574Trp)
c.1437C>G (p.Cys479Trp)
c.219C>G (p.Cys73Trp)
n.589C>G
17g.63487057C>TCA501185516ACEc.2289C>T (p.Cys763=)
c.567C>T (p.Cys189=)
c.*359C>T (n.*359C>T)
c.470C>T (n.470C>T)
c.851C>T
c.*209C>T (n.*209C>T)
c.57C>T (p.Cys19=)
n.235C>T
c.1740C>T (p.Cys580=)
c.627C>T (p.Cys209=)
c.1722C>T (p.Cys574=)
c.1437C>T (p.Cys479=)
c.219C>T (p.Cys73=)
n.589C>T
 dbSNP gnomAD v4
17g.63487058C>ACA400556915ACEc.2290C>A (p.Leu764Met)
c.568C>A (p.Leu190Met)
c.*360C>A (n.*360C>A)
c.471C>A (n.471C>A)
c.852C>A
c.*210C>A (n.*210C>A)
c.58C>A (p.Leu20Met)
n.236C>A
c.1741C>A (p.Leu581Met)
c.628C>A (p.Leu210Met)
c.1723C>A (p.Leu575Met)
c.1438C>A (p.Leu480Met)
c.220C>A (p.Leu74Met)
n.590C>A
17g.63487058C=CA2269945092ACEc.2290C= (p.Leu764=)
c.568C= (p.Leu190=)
c.*360C= (n.*360C=)
c.471C= (n.471C=)
c.852C=
c.*210C= (n.*210C=)
c.58C= (p.Leu20=)
n.236C=
c.1741C= (p.Leu581=)
c.628C= (p.Leu210=)
c.1723C= (p.Leu575=)
c.1438C= (p.Leu480=)
c.220C= (p.Leu74=)
n.590C=
17g.63487058C>GCA400556917ACEc.2290C>G (p.Leu764Val)
c.568C>G (p.Leu190Val)
c.*360C>G (n.*360C>G)
c.471C>G (n.471C>G)
c.852C>G
c.*210C>G (n.*210C>G)
c.58C>G (p.Leu20Val)
n.236C>G
c.1741C>G (p.Leu581Val)
c.628C>G (p.Leu210Val)
c.1723C>G (p.Leu575Val)
c.1438C>G (p.Leu480Val)
c.220C>G (p.Leu74Val)
n.590C>G
17g.63487058C>TCA501185520ACEc.2290C>T (p.Leu764=)
c.568C>T (p.Leu190=)
c.*360C>T (n.*360C>T)
c.471C>T (n.471C>T)
c.852C>T
c.*210C>T (n.*210C>T)
c.58C>T (p.Leu20=)
n.236C>T
c.1741C>T (p.Leu581=)
c.628C>T (p.Leu210=)
c.1723C>T (p.Leu575=)
c.1438C>T (p.Leu480=)
c.220C>T (p.Leu74=)
n.590C>T
 dbSNP
17g.63487059T>ACA8699996ACEc.2291T>A (p.Leu764Gln)
c.569T>A (p.Leu190Gln)
c.*361T>A (n.*361T>A)
c.472T>A (n.472T>A)
c.853T>A
c.*211T>A (n.*211T>A)
c.59T>A (p.Leu20Gln)
n.237T>A
c.1742T>A (p.Leu581Gln)
c.629T>A (p.Leu210Gln)
c.1724T>A (p.Leu575Gln)
c.1439T>A (p.Leu480Gln)
c.221T>A (p.Leu74Gln)
n.591T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487059T>CCA400556919ACEc.2291T>C (p.Leu764Pro)
c.569T>C (p.Leu190Pro)
c.*361T>C (n.*361T>C)
c.472T>C (n.472T>C)
c.853T>C
c.*211T>C (n.*211T>C)
c.59T>C (p.Leu20Pro)
n.237T>C
c.1742T>C (p.Leu581Pro)
c.629T>C (p.Leu210Pro)
c.1724T>C (p.Leu575Pro)
c.1439T>C (p.Leu480Pro)
c.221T>C (p.Leu74Pro)
n.591T>C
 gnomAD v4
17g.63487059T>GCA400556921ACEc.2291T>G (p.Leu764Arg)
c.569T>G (p.Leu190Arg)
c.*361T>G (n.*361T>G)
c.472T>G (n.472T>G)
c.853T>G
c.*211T>G (n.*211T>G)
c.59T>G (p.Leu20Arg)
n.237T>G
c.1742T>G (p.Leu581Arg)
c.629T>G (p.Leu210Arg)
c.1724T>G (p.Leu575Arg)
c.1439T>G (p.Leu480Arg)
c.221T>G (p.Leu74Arg)
n.591T>G
17g.63487059T=CA2269945093ACEc.2291T= (p.Leu764=)
c.569T= (p.Leu190=)
c.*361T= (n.*361T=)
c.472T= (n.472T=)
c.853T=
c.*211T= (n.*211T=)
c.59T= (p.Leu20=)
n.237T=
c.1742T= (p.Leu581=)
c.629T= (p.Leu210=)
c.1724T= (p.Leu575=)
c.1439T= (p.Leu480=)
c.221T= (p.Leu74=)
n.591T=
17g.63487060G>ACA501185525ACEc.2292G>A (p.Leu764=)
c.570G>A (p.Leu190=)
c.*362G>A (n.*362G>A)
c.473G>A (n.473G>A)
c.854G>A
c.*212G>A (n.*212G>A)
c.60G>A (p.Leu20=)
n.238G>A
c.1743G>A (p.Leu581=)
c.630G>A (p.Leu210=)
c.1725G>A (p.Leu575=)
c.1440G>A (p.Leu480=)
c.222G>A (p.Leu74=)
n.592G>A
 dbSNP
17g.63487060G>CCA501185527ACEc.2292G>C (p.Leu764=)
c.570G>C (p.Leu190=)
c.*362G>C (n.*362G>C)
c.473G>C (n.473G>C)
c.854G>C
c.*212G>C (n.*212G>C)
c.60G>C (p.Leu20=)
n.238G>C
c.1743G>C (p.Leu581=)
c.630G>C (p.Leu210=)
c.1725G>C (p.Leu575=)
c.1440G>C (p.Leu480=)
c.222G>C (p.Leu74=)
n.592G>C
17g.63487060G=CA2269945094ACEc.2292G= (p.Leu764=)
c.570G= (p.Leu190=)
c.*362G= (n.*362G=)
c.473G= (n.473G=)
c.854G=
c.*212G= (n.*212G=)
c.60G= (p.Leu20=)
n.238G=
c.1743G= (p.Leu581=)
c.630G= (p.Leu210=)
c.1725G= (p.Leu575=)
c.1440G= (p.Leu480=)
c.222G= (p.Leu74=)
n.592G=
17g.63487060G>TCA501185528ACEc.2292G>T (p.Leu764=)
c.570G>T (p.Leu190=)
c.*362G>T (n.*362G>T)
c.473G>T (n.473G>T)
c.854G>T
c.*212G>T (n.*212G>T)
c.60G>T (p.Leu20=)
n.238G>T
c.1743G>T (p.Leu581=)
c.630G>T (p.Leu210=)
c.1725G>T (p.Leu575=)
c.1440G>T (p.Leu480=)
c.222G>T (p.Leu74=)
n.592G>T
17g.63487061C>ACA400556928ACEc.2293C>A (p.Gln765Lys)
c.571C>A (p.Gln191Lys)
c.*363C>A (n.*363C>A)
c.474C>A (n.474C>A)
c.855C>A
c.*213C>A (n.*213C>A)
c.61C>A (p.Gln21Lys)
n.239C>A
c.1744C>A (p.Gln582Lys)
c.631C>A (p.Gln211Lys)
c.1726C>A (p.Gln576Lys)
c.1441C>A (p.Gln481Lys)
c.223C>A (p.Gln75Lys)
n.593C>A
17g.63487061C>GCA400556926ACEc.2293C>G (p.Gln765Glu)
c.571C>G (p.Gln191Glu)
c.*363C>G (n.*363C>G)
c.474C>G (n.474C>G)
c.855C>G
c.*213C>G (n.*213C>G)
c.61C>G (p.Gln21Glu)
n.239C>G
c.1744C>G (p.Gln582Glu)
c.631C>G (p.Gln211Glu)
c.1726C>G (p.Gln576Glu)
c.1441C>G (p.Gln481Glu)
c.223C>G (p.Gln75Glu)
n.593C>G
17g.63487061C>TCA400556924ACEc.2293C>T (p.Gln765Ter)
c.571C>T (p.Gln191Ter)
c.*363C>T (n.*363C>T)
c.474C>T (n.474C>T)
c.855C>T
c.*213C>T (n.*213C>T)
c.61C>T (p.Gln21Ter)
n.239C>T
c.1744C>T (p.Gln582Ter)
c.631C>T (p.Gln211Ter)
c.1726C>T (p.Gln576Ter)
c.1441C>T (p.Gln481Ter)
c.223C>T (p.Gln75Ter)
n.593C>T
17g.63487062A>CCA400556931ACEc.2294A>C (p.Gln765Pro)
c.572A>C (p.Gln191Pro)
c.*364A>C (n.*364A>C)
c.475A>C (n.475A>C)
c.856A>C
c.*214A>C (n.*214A>C)
c.62A>C (p.Gln21Pro)
n.240A>C
c.1745A>C (p.Gln582Pro)
c.632A>C (p.Gln211Pro)
c.1727A>C (p.Gln576Pro)
c.1442A>C (p.Gln481Pro)
c.224A>C (p.Gln75Pro)
n.594A>C
17g.63487062A>GCA400556933ACEc.2294A>G (p.Gln765Arg)
c.572A>G (p.Gln191Arg)
c.*364A>G (n.*364A>G)
c.475A>G (n.475A>G)
c.856A>G
c.*214A>G (n.*214A>G)
c.62A>G (p.Gln21Arg)
n.240A>G
c.1745A>G (p.Gln582Arg)
c.632A>G (p.Gln211Arg)
c.1727A>G (p.Gln576Arg)
c.1442A>G (p.Gln481Arg)
c.224A>G (p.Gln75Arg)
n.594A>G
17g.63487062A>TCA400556934ACEc.2294A>T (p.Gln765Leu)
c.572A>T (p.Gln191Leu)
c.*364A>T (n.*364A>T)
c.475A>T (n.475A>T)
c.856A>T
c.*214A>T (n.*214A>T)
c.62A>T (p.Gln21Leu)
n.240A>T
c.1745A>T (p.Gln582Leu)
c.632A>T (p.Gln211Leu)
c.1727A>T (p.Gln576Leu)
c.1442A>T (p.Gln481Leu)
c.224A>T (p.Gln75Leu)
n.594A>T
17g.63487063G>ACA501185537ACEc.2295G>A (p.Gln765=)
c.573G>A (p.Gln191=)
c.*365G>A (n.*365G>A)
c.476G>A (n.476G>A)
c.857G>A
c.*215G>A (n.*215G>A)
c.63G>A (p.Gln21=)
n.241G>A
c.1746G>A (p.Gln582=)
c.633G>A (p.Gln211=)
c.1728G>A (p.Gln576=)
c.1443G>A (p.Gln481=)
c.225G>A (p.Gln75=)
n.595G>A
17g.63487063G>CCA400556936ACEc.2295G>C (p.Gln765His)
c.573G>C (p.Gln191His)
c.*365G>C (n.*365G>C)
c.476G>C (n.476G>C)
c.857G>C
c.*215G>C (n.*215G>C)
c.63G>C (p.Gln21His)
n.241G>C
c.1746G>C (p.Gln582His)
c.633G>C (p.Gln211His)
c.1728G>C (p.Gln576His)
c.1443G>C (p.Gln481His)
c.225G>C (p.Gln75His)
n.595G>C
17g.63487063G>TCA400556938ACEc.2295G>T (p.Gln765His)
c.573G>T (p.Gln191His)
c.*365G>T (n.*365G>T)
c.476G>T (n.476G>T)
c.857G>T
c.*215G>T (n.*215G>T)
c.63G>T (p.Gln21His)
n.241G>T
c.1746G>T (p.Gln582His)
c.633G>T (p.Gln211His)
c.1728G>T (p.Gln576His)
c.1443G>T (p.Gln481His)
c.225G>T (p.Gln75His)
n.595G>T
17g.63487064C>ACA400556941ACEc.2296C>A (p.Leu766Ile)
c.574C>A (p.Leu192Ile)
c.*366C>A (n.*366C>A)
c.477C>A (n.477C>A)
c.858C>A
c.*216C>A (n.*216C>A)
c.64C>A (p.Leu22Ile)
n.242C>A
c.1747C>A (p.Leu583Ile)
c.634C>A (p.Leu212Ile)
c.1729C>A (p.Leu577Ile)
c.1444C>A (p.Leu482Ile)
c.226C>A (p.Leu76Ile)
n.596C>A
17g.63487064C>GCA400556942ACEc.2296C>G (p.Leu766Val)
c.574C>G (p.Leu192Val)
c.*366C>G (n.*366C>G)
c.477C>G (n.477C>G)
c.858C>G
c.*216C>G (n.*216C>G)
c.64C>G (p.Leu22Val)
n.242C>G
c.1747C>G (p.Leu583Val)
c.634C>G (p.Leu212Val)
c.1729C>G (p.Leu577Val)
c.1444C>G (p.Leu482Val)
c.226C>G (p.Leu76Val)
n.596C>G
 gnomAD v4
17g.63487064C>TCA400556943ACEc.2296C>T (p.Leu766Phe)
c.574C>T (p.Leu192Phe)
c.*366C>T (n.*366C>T)
c.477C>T (n.477C>T)
c.858C>T
c.*216C>T (n.*216C>T)
c.64C>T (p.Leu22Phe)
n.242C>T
c.1747C>T (p.Leu583Phe)
c.634C>T (p.Leu212Phe)
c.1729C>T (p.Leu577Phe)
c.1444C>T (p.Leu482Phe)
c.226C>T (p.Leu76Phe)
n.596C>T
17g.63487065T>ACA400556946ACEc.2297T>A (p.Leu766His)
c.575T>A (p.Leu192His)
c.*367T>A (n.*367T>A)
c.478T>A (n.478T>A)
c.859T>A
c.*217T>A (n.*217T>A)
c.65T>A (p.Leu22His)
n.243T>A
c.1748T>A (p.Leu583His)
c.635T>A (p.Leu212His)
c.1730T>A (p.Leu577His)
c.1445T>A (p.Leu482His)
c.227T>A (p.Leu76His)
n.597T>A
17g.63487065T>CCA400556947ACEc.2297T>C (p.Leu766Pro)
c.575T>C (p.Leu192Pro)
c.*367T>C (n.*367T>C)
c.478T>C (n.478T>C)
c.859T>C
c.*217T>C (n.*217T>C)
c.65T>C (p.Leu22Pro)
n.243T>C
c.1748T>C (p.Leu583Pro)
c.635T>C (p.Leu212Pro)
c.1730T>C (p.Leu577Pro)
c.1445T>C (p.Leu482Pro)
c.227T>C (p.Leu76Pro)
n.597T>C
17g.63487065T>GCA400556949ACEc.2297T>G (p.Leu766Arg)
c.575T>G (p.Leu192Arg)
c.*367T>G (n.*367T>G)
c.478T>G (n.478T>G)
c.859T>G
c.*217T>G (n.*217T>G)
c.65T>G (p.Leu22Arg)
n.243T>G
c.1748T>G (p.Leu583Arg)
c.635T>G (p.Leu212Arg)
c.1730T>G (p.Leu577Arg)
c.1445T>G (p.Leu482Arg)
c.227T>G (p.Leu76Arg)
n.597T>G
17g.63487066C>ACA501185547ACEc.2298C>A (p.Leu766=)
c.576C>A (p.Leu192=)
c.*368C>A (n.*368C>A)
c.479C>A (n.479C>A)
c.860C>A
c.*218C>A (n.*218C>A)
c.66C>A (p.Leu22=)
n.244C>A
c.1749C>A (p.Leu583=)
c.636C>A (p.Leu212=)
c.1731C>A (p.Leu577=)
c.1446C>A (p.Leu482=)
c.228C>A (p.Leu76=)
n.598C>A
17g.63487066C=CA2269945095ACEc.2298C= (p.Leu766=)
c.576C= (p.Leu192=)
c.*368C= (n.*368C=)
c.479C= (n.479C=)
c.860C=
c.*218C= (n.*218C=)
c.66C= (p.Leu22=)
n.244C=
c.1749C= (p.Leu583=)
c.636C= (p.Leu212=)
c.1731C= (p.Leu577=)
c.1446C= (p.Leu482=)
c.228C= (p.Leu76=)
n.598C=
17g.63487066C>GCA501185549ACEc.2298C>G (p.Leu766=)
c.576C>G (p.Leu192=)
c.*368C>G (n.*368C>G)
c.479C>G (n.479C>G)
c.860C>G
c.*218C>G (n.*218C>G)
c.66C>G (p.Leu22=)
n.244C>G
c.1749C>G (p.Leu583=)
c.636C>G (p.Leu212=)
c.1731C>G (p.Leu577=)
c.1446C>G (p.Leu482=)
c.228C>G (p.Leu76=)
n.598C>G
 dbSNP gnomAD v2 gnomAD v4
17g.63487066C>TCA292881905ACEc.2298C>T (p.Leu766=)
c.576C>T (p.Leu192=)
c.*368C>T (n.*368C>T)
c.479C>T (n.479C>T)
c.860C>T
c.*218C>T (n.*218C>T)
c.66C>T (p.Leu22=)
n.244C>T
c.1749C>T (p.Leu583=)
c.636C>T (p.Leu212=)
c.1731C>T (p.Leu577=)
c.1446C>T (p.Leu482=)
c.228C>T (p.Leu76=)
n.598C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63487067G>ACA8699997ACEc.2299G>A (p.Glu767Lys)
c.577G>A (p.Glu193Lys)
c.*369G>A (n.*369G>A)
c.480G>A (n.480G>A)
c.861G>A
c.*219G>A (n.*219G>A)
c.67G>A (p.Glu23Lys)
n.245G>A
c.1750G>A (p.Glu584Lys)
c.637G>A (p.Glu213Lys)
c.1732G>A (p.Glu578Lys)
c.1447G>A (p.Glu483Lys)
c.229G>A (p.Glu77Lys)
n.599G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487067G>CCA400556955ACEc.2299G>C (p.Glu767Gln)
c.577G>C (p.Glu193Gln)
c.*369G>C (n.*369G>C)
c.480G>C (n.480G>C)
c.861G>C
c.*219G>C (n.*219G>C)
c.67G>C (p.Glu23Gln)
n.245G>C
c.1750G>C (p.Glu584Gln)
c.637G>C (p.Glu213Gln)
c.1732G>C (p.Glu578Gln)
c.1447G>C (p.Glu483Gln)
c.229G>C (p.Glu77Gln)
n.599G>C
17g.63487067G=CA2269945096ACEc.2299G= (p.Glu767=)
c.577G= (p.Glu193=)
c.*369G= (n.*369G=)
c.480G= (n.480G=)
c.861G=
c.*219G= (n.*219G=)
c.67G= (p.Glu23=)
n.245G=
c.1750G= (p.Glu584=)
c.637G= (p.Glu213=)
c.1732G= (p.Glu578=)
c.1447G= (p.Glu483=)
c.229G= (p.Glu77=)
n.599G=
17g.63487067G>TCA400556952ACEc.2299G>T (p.Glu767Ter)
c.577G>T (p.Glu193Ter)
c.*369G>T (n.*369G>T)
c.480G>T (n.480G>T)
c.861G>T
c.*219G>T (n.*219G>T)
c.67G>T (p.Glu23Ter)
n.245G>T
c.1750G>T (p.Glu584Ter)
c.637G>T (p.Glu213Ter)
c.1732G>T (p.Glu578Ter)
c.1447G>T (p.Glu483Ter)
c.229G>T (p.Glu77Ter)
n.599G>T
17g.63487068A=CA2269945097ACEc.2300A= (p.Glu767=)
c.578A= (p.Glu193=)
c.*370A= (n.*370A=)
c.481A= (n.481A=)
c.862A=
c.*220A= (n.*220A=)
c.68A= (p.Glu23=)
n.246A=
c.1751A= (p.Glu584=)
c.638A= (p.Glu213=)
c.1733A= (p.Glu578=)
c.1448A= (p.Glu483=)
c.230A= (p.Glu77=)
n.600A=
17g.63487068A>CCA400556959ACEc.2300A>C (p.Glu767Ala)
c.578A>C (p.Glu193Ala)
c.*370A>C (n.*370A>C)
c.481A>C (n.481A>C)
c.862A>C
c.*220A>C (n.*220A>C)
c.68A>C (p.Glu23Ala)
n.246A>C
c.1751A>C (p.Glu584Ala)
c.638A>C (p.Glu213Ala)
c.1733A>C (p.Glu578Ala)
c.1448A>C (p.Glu483Ala)
c.230A>C (p.Glu77Ala)
n.600A>C
17g.63487068A>GCA400556961ACEc.2300A>G (p.Glu767Gly)
c.578A>G (p.Glu193Gly)
c.*370A>G (n.*370A>G)
c.481A>G (n.481A>G)
c.862A>G
c.*220A>G (n.*220A>G)
c.68A>G (p.Glu23Gly)
n.246A>G
c.1751A>G (p.Glu584Gly)
c.638A>G (p.Glu213Gly)
c.1733A>G (p.Glu578Gly)
c.1448A>G (p.Glu483Gly)
c.230A>G (p.Glu77Gly)
n.600A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63487068A>TCA400556962ACEc.2300A>T (p.Glu767Val)
c.578A>T (p.Glu193Val)
c.*370A>T (n.*370A>T)
c.481A>T (n.481A>T)
c.862A>T
c.*220A>T (n.*220A>T)
c.68A>T (p.Glu23Val)
n.246A>T
c.1751A>T (p.Glu584Val)
c.638A>T (p.Glu213Val)
c.1733A>T (p.Glu578Val)
c.1448A>T (p.Glu483Val)
c.230A>T (p.Glu77Val)
n.600A>T
17g.63487069G>ACA501185557ACEc.2301G>A (p.Glu767=)
c.579G>A (p.Glu193=)
c.*371G>A (n.*371G>A)
c.482G>A (n.482G>A)
c.863G>A
c.*221G>A (n.*221G>A)
c.69G>A (p.Glu23=)
n.247G>A
c.1752G>A (p.Glu584=)
c.639G>A (p.Glu213=)
c.1734G>A (p.Glu578=)
c.1449G>A (p.Glu483=)
c.231G>A (p.Glu77=)
n.601G>A
17g.63487069G>CCA400556965ACEc.2301G>C (p.Glu767Asp)
c.579G>C (p.Glu193Asp)
c.*371G>C (n.*371G>C)
c.482G>C (n.482G>C)
c.863G>C
c.*221G>C (n.*221G>C)
c.69G>C (p.Glu23Asp)
n.247G>C
c.1752G>C (p.Glu584Asp)
c.639G>C (p.Glu213Asp)
c.1734G>C (p.Glu578Asp)
c.1449G>C (p.Glu483Asp)
c.231G>C (p.Glu77Asp)
n.601G>C
17g.63487069G>TCA400556967ACEc.2301G>T (p.Glu767Asp)
c.579G>T (p.Glu193Asp)
c.*371G>T (n.*371G>T)
c.482G>T (n.482G>T)
c.863G>T
c.*221G>T (n.*221G>T)
c.69G>T (p.Glu23Asp)
n.247G>T
c.1752G>T (p.Glu584Asp)
c.639G>T (p.Glu213Asp)
c.1734G>T (p.Glu578Asp)
c.1449G>T (p.Glu483Asp)
c.231G>T (p.Glu77Asp)
n.601G>T
17g.63487070_63487076dupCA2639263345ACEc.2302_2305+3dup
c.580_583+3dup
c.*372_*375+3dup
c.483_486+3dup
c.*222_*225+3dup
c.70_73+3dup
n.248_251+3dup
c.1753_1756+3dup
c.640_643+3dup
c.1735_1738+3dup
c.1450_1453+3dup
c.232_235+3dup
n.602_605+3dup
 gnomAD v4
17g.63487070C>ACA400556973ACEc.2302C>A (p.Pro768Thr)
c.580C>A (p.Pro194Thr)
c.*372C>A (n.*372C>A)
c.483C>A (n.483C>A)
c.864C>A
c.*222C>A (n.*222C>A)
c.70C>A (p.Pro24Thr)
n.248C>A
c.1753C>A (p.Pro585Thr)
c.640C>A (p.Pro214Thr)
c.1735C>A (p.Pro579Thr)
c.1450C>A (p.Pro484Thr)
c.232C>A (p.Pro78Thr)
n.602C>A
17g.63487070C>GCA400556971ACEc.2302C>G (p.Pro768Ala)
c.580C>G (p.Pro194Ala)
c.*372C>G (n.*372C>G)
c.483C>G (n.483C>G)
c.864C>G
c.*222C>G (n.*222C>G)
c.70C>G (p.Pro24Ala)
n.248C>G
c.1753C>G (p.Pro585Ala)
c.640C>G (p.Pro214Ala)
c.1735C>G (p.Pro579Ala)
c.1450C>G (p.Pro484Ala)
c.232C>G (p.Pro78Ala)
n.602C>G
 gnomAD v4
17g.63487070C>TCA400556969ACEc.2302C>T (p.Pro768Ser)
c.580C>T (p.Pro194Ser)
c.*372C>T (n.*372C>T)
c.483C>T (n.483C>T)
c.864C>T
c.*222C>T (n.*222C>T)
c.70C>T (p.Pro24Ser)
n.248C>T
c.1753C>T (p.Pro585Ser)
c.640C>T (p.Pro214Ser)
c.1735C>T (p.Pro579Ser)
c.1450C>T (p.Pro484Ser)
c.232C>T (p.Pro78Ser)
n.602C>T
17g.63487071C>ACA400556975ACEc.2303C>A (p.Pro768Gln)
c.581C>A (p.Pro194Gln)
c.*373C>A (n.*373C>A)
c.484C>A (n.484C>A)
c.865C>A
c.*223C>A (n.*223C>A)
c.71C>A (p.Pro24Gln)
n.249C>A
c.1754C>A (p.Pro585Gln)
c.641C>A (p.Pro214Gln)
c.1736C>A (p.Pro579Gln)
c.1451C>A (p.Pro484Gln)
c.233C>A (p.Pro78Gln)
n.603C>A
17g.63487071C>GCA400556977ACEc.2303C>G (p.Pro768Arg)
c.581C>G (p.Pro194Arg)
c.*373C>G (n.*373C>G)
c.484C>G (n.484C>G)
c.865C>G
c.*223C>G (n.*223C>G)
c.71C>G (p.Pro24Arg)
n.249C>G
c.1754C>G (p.Pro585Arg)
c.641C>G (p.Pro214Arg)
c.1736C>G (p.Pro579Arg)
c.1451C>G (p.Pro484Arg)
c.233C>G (p.Pro78Arg)
n.603C>G
17g.63487071C>TCA400556979ACEc.2303C>T (p.Pro768Leu)
c.581C>T (p.Pro194Leu)
c.*373C>T (n.*373C>T)
c.484C>T (n.484C>T)
c.865C>T
c.*223C>T (n.*223C>T)
c.71C>T (p.Pro24Leu)
n.249C>T
c.1754C>T (p.Pro585Leu)
c.641C>T (p.Pro214Leu)
c.1736C>T (p.Pro579Leu)
c.1451C>T (p.Pro484Leu)
c.233C>T (p.Pro78Leu)
n.603C>T
17g.63487072A>CCA501185568ACEc.2304A>C (p.Pro768=)
c.582A>C (p.Pro194=)
c.*374A>C (n.*374A>C)
c.485A>C (n.485A>C)
c.866A>C
c.*224A>C (n.*224A>C)
c.72A>C (p.Pro24=)
n.250A>C
c.1755A>C (p.Pro585=)
c.642A>C (p.Pro214=)
c.1737A>C (p.Pro579=)
c.1452A>C (p.Pro484=)
c.234A>C (p.Pro78=)
n.604A>C
17g.63487072A>GCA501185570ACEc.2304A>G (p.Pro768=)
c.582A>G (p.Pro194=)
c.*374A>G (n.*374A>G)
c.485A>G (n.485A>G)
c.866A>G
c.*224A>G (n.*224A>G)
c.72A>G (p.Pro24=)
n.250A>G
c.1755A>G (p.Pro585=)
c.642A>G (p.Pro214=)
c.1737A>G (p.Pro579=)
c.1452A>G (p.Pro484=)
c.234A>G (p.Pro78=)
n.604A>G
 gnomAD v4
17g.63487072A>TCA501185572ACEc.2304A>T (p.Pro768=)
c.582A>T (p.Pro194=)
c.*374A>T (n.*374A>T)
c.485A>T (n.485A>T)
c.866A>T
c.*224A>T (n.*224A>T)
c.72A>T (p.Pro24=)
n.250A>T
c.1755A>T (p.Pro585=)
c.642A>T (p.Pro214=)
c.1737A>T (p.Pro579=)
c.1452A>T (p.Pro484=)
c.234A>T (p.Pro78=)
n.604A>T
17g.63487073G>ACA400556982ACEc.2305G>A (p.Asp769Asn)
c.583G>A (p.Asp195Asn)
c.*375G>A (n.*375G>A)
c.486G>A (n.486G>A)
c.583G>A (p.Ala195Thr)
c.867G>A
c.*225G>A (n.*225G>A)
c.73G>A (p.Asp25Asn)
n.251G>A
c.1756G>A (p.Asp586Asn)
c.643G>A (p.Asp215Asn)
c.1738G>A (p.Asp580Asn)
c.1453G>A (p.Asp485Asn)
c.235G>A (p.Asp79Asn)
n.605G>A
 gnomAD v4
17g.63487073G>CCA400556983ACEc.2305G>C (p.Asp769His)
c.583G>C (p.Asp195His)
c.*375G>C (n.*375G>C)
c.486G>C (n.486G>C)
c.583G>C (p.Ala195Pro)
c.867G>C
c.*225G>C (n.*225G>C)
c.73G>C (p.Asp25His)
n.251G>C
c.1756G>C (p.Asp586His)
c.643G>C (p.Asp215His)
c.1738G>C (p.Asp580His)
c.1453G>C (p.Asp485His)
c.235G>C (p.Asp79His)
n.605G>C
17g.63487073G>TCA400556985ACEc.2305G>T (p.Asp769Tyr)
c.583G>T (p.Asp195Tyr)
c.*375G>T (n.*375G>T)
c.486G>T (n.486G>T)
c.583G>T (p.Ala195Ser)
c.867G>T
c.*225G>T (n.*225G>T)
c.73G>T (p.Asp25Tyr)
n.251G>T
c.1756G>T (p.Asp586Tyr)
c.643G>T (p.Asp215Tyr)
c.1738G>T (p.Asp580Tyr)
c.1453G>T (p.Asp485Tyr)
c.235G>T (p.Asp79Tyr)
n.605G>T
17g.63487074G>ACA400556987ACEc.2305+1G>A (n.2305+1G>A)
c.583+1G>A (n.583+1G>A)
c.*375+1G>A (n.*375+1G>A)
c.486+1G>A (n.486+1G>A)
c.*225+1G>A (n.*225+1G>A)
c.73+1G>A (n.73+1G>A)
n.251+1G>A
c.1756+1G>A (n.1756+1G>A)
c.643+1G>A (n.643+1G>A)
c.1738+1G>A (n.1738+1G>A)
c.1453+1G>A (n.1453+1G>A)
c.235+1G>A (n.235+1G>A)
n.605+1G>A
 dbSNP gnomAD v4
17g.63487074G>CCA400556991ACEc.2305+1G>C (n.2305+1G>C)
c.583+1G>C (n.583+1G>C)
c.*375+1G>C (n.*375+1G>C)
c.486+1G>C (n.486+1G>C)
c.*225+1G>C (n.*225+1G>C)
c.73+1G>C (n.73+1G>C)
n.251+1G>C
c.1756+1G>C (n.1756+1G>C)
c.643+1G>C (n.643+1G>C)
c.1738+1G>C (n.1738+1G>C)
c.1453+1G>C (n.1453+1G>C)
c.235+1G>C (n.235+1G>C)
n.605+1G>C
17g.63487074G=CA2269945098ACEc.2305+1G= (n.2305+1G=)
c.583+1G= (n.583+1G=)
c.*375+1G= (n.*375+1G=)
c.486+1G= (n.486+1G=)
c.*225+1G= (n.*225+1G=)
c.73+1G= (n.73+1G=)
n.251+1G=
c.1756+1G= (n.1756+1G=)
c.643+1G= (n.643+1G=)
c.1738+1G= (n.1738+1G=)
c.1453+1G= (n.1453+1G=)
c.235+1G= (n.235+1G=)
n.605+1G=
17g.63487074G>TCA400556989ACEc.2305+1G>T (n.2305+1G>T)
c.583+1G>T (n.583+1G>T)
c.*375+1G>T (n.*375+1G>T)
c.486+1G>T (n.486+1G>T)
c.*225+1G>T (n.*225+1G>T)
c.73+1G>T (n.73+1G>T)
n.251+1G>T
c.1756+1G>T (n.1756+1G>T)
c.643+1G>T (n.643+1G>T)
c.1738+1G>T (n.1738+1G>T)
c.1453+1G>T (n.1453+1G>T)
c.235+1G>T (n.235+1G>T)
n.605+1G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63487075T>ACA400556994ACEc.2305+2T>A (n.2305+2T>A)
c.583+2T>A (n.583+2T>A)
c.*375+2T>A (n.*375+2T>A)
c.486+2T>A (n.486+2T>A)
c.*225+2T>A (n.*225+2T>A)
c.73+2T>A (n.73+2T>A)
n.251+2T>A
c.1756+2T>A (n.1756+2T>A)
c.643+2T>A (n.643+2T>A)
c.1738+2T>A (n.1738+2T>A)
c.1453+2T>A (n.1453+2T>A)
c.235+2T>A (n.235+2T>A)
n.605+2T>A
17g.63487075T>CCA400556995ACEc.2305+2T>C (n.2305+2T>C)
c.583+2T>C (n.583+2T>C)
c.*375+2T>C (n.*375+2T>C)
c.486+2T>C (n.486+2T>C)
c.*225+2T>C (n.*225+2T>C)
c.73+2T>C (n.73+2T>C)
n.251+2T>C
c.1756+2T>C (n.1756+2T>C)
c.643+2T>C (n.643+2T>C)
c.1738+2T>C (n.1738+2T>C)
c.1453+2T>C (n.1453+2T>C)
c.235+2T>C (n.235+2T>C)
n.605+2T>C
17g.63487075T>GCA400556998ACEc.2305+2T>G (n.2305+2T>G)
c.583+2T>G (n.583+2T>G)
c.*375+2T>G (n.*375+2T>G)
c.486+2T>G (n.486+2T>G)
c.*225+2T>G (n.*225+2T>G)
c.73+2T>G (n.73+2T>G)
n.251+2T>G
c.1756+2T>G (n.1756+2T>G)
c.643+2T>G (n.643+2T>G)
c.1738+2T>G (n.1738+2T>G)
c.1453+2T>G (n.1453+2T>G)
c.235+2T>G (n.235+2T>G)
n.605+2T>G
17g.63487076G>ACA2639263346ACEc.2305+3G>A (n.2305+3G>A)
c.583+3G>A (n.583+3G>A)
c.*375+3G>A (n.*375+3G>A)
c.486+3G>A (n.486+3G>A)
c.*225+3G>A (n.*225+3G>A)
c.73+3G>A (n.73+3G>A)
n.251+3G>A
c.1756+3G>A (n.1756+3G>A)
c.643+3G>A (n.643+3G>A)
c.1738+3G>A (n.1738+3G>A)
c.1453+3G>A (n.1453+3G>A)
c.235+3G>A (n.235+3G>A)
n.605+3G>A
 gnomAD v4
17g.63487079A>GCA2639263347ACEc.2305+6A>G (n.2305+6A>G)
c.583+6A>G (n.583+6A>G)
c.*375+6A>G (n.*375+6A>G)
c.486+6A>G (n.486+6A>G)
c.*225+6A>G (n.*225+6A>G)
c.73+6A>G (n.73+6A>G)
n.251+6A>G
c.1756+6A>G (n.1756+6A>G)
c.643+6A>G (n.643+6A>G)
c.1738+6A>G (n.1738+6A>G)
c.1453+6A>G (n.1453+6A>G)
c.235+6A>G (n.235+6A>G)
n.605+6A>G
 gnomAD v4
17g.63487080G=CA2269945099ACEc.2305+7G= (n.2305+7G=)
c.583+7G= (n.583+7G=)
c.*375+7G= (n.*375+7G=)
c.486+7G= (n.486+7G=)
c.*225+7G= (n.*225+7G=)
c.73+7G= (n.73+7G=)
n.251+7G=
c.1756+7G= (n.1756+7G=)
c.643+7G= (n.643+7G=)
c.1738+7G= (n.1738+7G=)
c.1453+7G= (n.1453+7G=)
c.235+7G= (n.235+7G=)
n.605+7G=
17g.63487080G>TCA985410650ACEc.2305+7G>T (n.2305+7G>T)
c.583+7G>T (n.583+7G>T)
c.*375+7G>T (n.*375+7G>T)
c.486+7G>T (n.486+7G>T)
c.*225+7G>T (n.*225+7G>T)
c.73+7G>T (n.73+7G>T)
n.251+7G>T
c.1756+7G>T (n.1756+7G>T)
c.643+7G>T (n.643+7G>T)
c.1738+7G>T (n.1738+7G>T)
c.1453+7G>T (n.1453+7G>T)
c.235+7G>T (n.235+7G>T)
n.605+7G>T
 dbSNP gnomAD v3 gnomAD v4
17g.63487081C=CA2269945100ACEc.2305+8C= (n.2305+8C=)
c.583+8C= (n.583+8C=)
c.*375+8C= (n.*375+8C=)
c.486+8C= (n.486+8C=)
c.*225+8C= (n.*225+8C=)
c.73+8C= (n.73+8C=)
n.251+8C=
c.1756+8C= (n.1756+8C=)
c.643+8C= (n.643+8C=)
c.1738+8C= (n.1738+8C=)
c.1453+8C= (n.1453+8C=)
c.235+8C= (n.235+8C=)
n.605+8C=
17g.63487081C>TCA626843980ACEc.2305+8C>T (n.2305+8C>T)
c.583+8C>T (n.583+8C>T)
c.*375+8C>T (n.*375+8C>T)
c.486+8C>T (n.486+8C>T)
c.*225+8C>T (n.*225+8C>T)
c.73+8C>T (n.73+8C>T)
n.251+8C>T
c.1756+8C>T (n.1756+8C>T)
c.643+8C>T (n.643+8C>T)
c.1738+8C>T (n.1738+8C>T)
c.1453+8C>T (n.1453+8C>T)
c.235+8C>T (n.235+8C>T)
n.605+8C>T
 dbSNP gnomAD v2 gnomAD v4
17g.63487082T>ACA8699998ACEc.2305+9T>A (n.2305+9T>A)
c.583+9T>A (n.583+9T>A)
c.*375+9T>A (n.*375+9T>A)
c.486+9T>A (n.486+9T>A)
c.*225+9T>A (n.*225+9T>A)
c.73+9T>A (n.73+9T>A)
n.251+9T>A
c.1756+9T>A (n.1756+9T>A)
c.643+9T>A (n.643+9T>A)
c.1738+9T>A (n.1738+9T>A)
c.1453+9T>A (n.1453+9T>A)
c.235+9T>A (n.235+9T>A)
n.605+9T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63487082T=CA2269945101ACEc.2305+9T= (n.2305+9T=)
c.583+9T= (n.583+9T=)
c.*375+9T= (n.*375+9T=)
c.486+9T= (n.486+9T=)
c.*225+9T= (n.*225+9T=)
c.73+9T= (n.73+9T=)
n.251+9T=
c.1756+9T= (n.1756+9T=)
c.643+9T= (n.643+9T=)
c.1738+9T= (n.1738+9T=)
c.1453+9T= (n.1453+9T=)
c.235+9T= (n.235+9T=)
n.605+9T=
17g.63487082_63487083insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGCCA2639263348ACEc.2305+9_2305+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.2305+9_2305+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.583+9_583+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.583+9_583+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.*375+9_*375+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.*375+9_*375+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.486+9_486+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.486+9_486+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.*225+9_*225+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.*225+9_*225+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.73+9_73+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.73+9_73+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
n.251+9_251+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC
c.1756+9_1756+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.1756+9_1756+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.643+9_643+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.643+9_643+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.1738+9_1738+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.1738+9_1738+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.1453+9_1453+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.1453+9_1453+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
c.235+9_235+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC (n.235+9_235+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC)
n.605+9_605+10insGAGTGAGAGAGGTGAGAGAGGTGAGAGCCAGGTGAGAGC
 gnomAD v4
17g.63487084A=CA2269945102ACEc.2305+11A= (n.2305+11A=)
c.583+11A= (n.583+11A=)
c.*375+11A= (n.*375+11A=)
c.486+11A= (n.486+11A=)
c.*225+11A= (n.*225+11A=)
c.73+11A= (n.73+11A=)
n.251+11A=
c.1756+11A= (n.1756+11A=)
c.643+11A= (n.643+11A=)
c.1738+11A= (n.1738+11A=)
c.1453+11A= (n.1453+11A=)
c.235+11A= (n.235+11A=)
n.605+11A=
17g.63487084A>GCA2269945103ACEc.2305+11A>G (n.2305+11A>G)
c.583+11A>G (n.583+11A>G)
c.*375+11A>G (n.*375+11A>G)
c.486+11A>G (n.486+11A>G)
c.*225+11A>G (n.*225+11A>G)
c.73+11A>G (n.73+11A>G)
n.251+11A>G
c.1756+11A>G (n.1756+11A>G)
c.643+11A>G (n.643+11A>G)
c.1738+11A>G (n.1738+11A>G)
c.1453+11A>G (n.1453+11A>G)
c.235+11A>G (n.235+11A>G)
n.605+11A>G
 dbSNP gnomAD v4
17g.63487084_63487085delCA2576350593ACEc.2305+11_2305+12del (n.2305+11_2305+12del)
c.583+11_583+12del (n.583+11_583+12del)
c.*375+11_*375+12del (n.*375+11_*375+12del)
c.486+11_486+12del (n.486+11_486+12del)
c.*225+11_*225+12del (n.*225+11_*225+12del)
c.73+11_73+12del (n.73+11_73+12del)
n.251+11_251+12del
c.1756+11_1756+12del (n.1756+11_1756+12del)
c.643+11_643+12del (n.643+11_643+12del)
c.1738+11_1738+12del (n.1738+11_1738+12del)
c.1453+11_1453+12del (n.1453+11_1453+12del)
c.235+11_235+12del (n.235+11_235+12del)
n.605+11_605+12del
 gnomAD v4
17g.63487085T>CCA2269945105ACEc.2305+12T>C (n.2305+12T>C)
c.583+12T>C (n.583+12T>C)
c.*375+12T>C (n.*375+12T>C)
c.486+12T>C (n.486+12T>C)
c.*225+12T>C (n.*225+12T>C)
c.73+12T>C (n.73+12T>C)
n.251+12T>C
c.1756+12T>C (n.1756+12T>C)
c.643+12T>C (n.643+12T>C)
c.1738+12T>C (n.1738+12T>C)
c.1453+12T>C (n.1453+12T>C)
c.235+12T>C (n.235+12T>C)
n.605+12T>C
 dbSNP gnomAD v4
17g.63487085T>GCA2269945106ACEc.2305+12T>G (n.2305+12T>G)
c.583+12T>G (n.583+12T>G)
c.*375+12T>G (n.*375+12T>G)
c.486+12T>G (n.486+12T>G)
c.*225+12T>G (n.*225+12T>G)
c.73+12T>G (n.73+12T>G)
n.251+12T>G
c.1756+12T>G (n.1756+12T>G)
c.643+12T>G (n.643+12T>G)
c.1738+12T>G (n.1738+12T>G)
c.1453+12T>G (n.1453+12T>G)
c.235+12T>G (n.235+12T>G)
n.605+12T>G
 dbSNP gnomAD v4
17g.63487085T=CA2269945104ACEc.2305+12T= (n.2305+12T=)
c.583+12T= (n.583+12T=)
c.*375+12T= (n.*375+12T=)
c.486+12T= (n.486+12T=)
c.*225+12T= (n.*225+12T=)
c.73+12T= (n.73+12T=)
n.251+12T=
c.1756+12T= (n.1756+12T=)
c.643+12T= (n.643+12T=)
c.1738+12T= (n.1738+12T=)
c.1453+12T= (n.1453+12T=)
c.235+12T= (n.235+12T=)
n.605+12T=
17g.63487086G>ACA8699999ACEc.2305+13G>A (n.2305+13G>A)
c.583+13G>A (n.583+13G>A)
c.*375+13G>A (n.*375+13G>A)
c.486+13G>A (n.486+13G>A)
c.*225+13G>A (n.*225+13G>A)
c.73+13G>A (n.73+13G>A)
n.251+13G>A
c.1756+13G>A (n.1756+13G>A)
c.643+13G>A (n.643+13G>A)
c.1738+13G>A (n.1738+13G>A)
c.1453+13G>A (n.1453+13G>A)
c.235+13G>A (n.235+13G>A)
n.605+13G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63487086G=CA2269945107ACEc.2305+13G= (n.2305+13G=)
c.583+13G= (n.583+13G=)
c.*375+13G= (n.*375+13G=)
c.486+13G= (n.486+13G=)
c.*225+13G= (n.*225+13G=)
c.73+13G= (n.73+13G=)
n.251+13G=
c.1756+13G= (n.1756+13G=)
c.643+13G= (n.643+13G=)
c.1738+13G= (n.1738+13G=)
c.1453+13G= (n.1453+13G=)
c.235+13G= (n.235+13G=)
n.605+13G=
17g.63487087T>CCA2639263349ACEc.2305+14T>C (n.2305+14T>C)
c.583+14T>C (n.583+14T>C)
c.*375+14T>C (n.*375+14T>C)
c.486+14T>C (n.486+14T>C)
c.*225+14T>C (n.*225+14T>C)
c.73+14T>C (n.73+14T>C)
n.251+14T>C
c.1756+14T>C (n.1756+14T>C)
c.643+14T>C (n.643+14T>C)
c.1738+14T>C (n.1738+14T>C)
c.1453+14T>C (n.1453+14T>C)
c.235+14T>C (n.235+14T>C)
n.605+14T>C
 gnomAD v4
17g.63487087T>GCA2576350594ACEc.2305+14T>G (n.2305+14T>G)
c.583+14T>G (n.583+14T>G)
c.*375+14T>G (n.*375+14T>G)
c.486+14T>G (n.486+14T>G)
c.*225+14T>G (n.*225+14T>G)
c.73+14T>G (n.73+14T>G)
n.251+14T>G
c.1756+14T>G (n.1756+14T>G)
c.643+14T>G (n.643+14T>G)
c.1738+14T>G (n.1738+14T>G)
c.1453+14T>G (n.1453+14T>G)
c.235+14T>G (n.235+14T>G)
n.605+14T>G
 gnomAD v4
17g.63487088G>ACA8700000ACEc.2305+15G>A (n.2305+15G>A)
c.583+15G>A (n.583+15G>A)
c.*375+15G>A (n.*375+15G>A)
c.486+15G>A (n.486+15G>A)
c.*225+15G>A (n.*225+15G>A)
c.73+15G>A (n.73+15G>A)
n.251+15G>A
c.1756+15G>A (n.1756+15G>A)
c.643+15G>A (n.643+15G>A)
c.1738+15G>A (n.1738+15G>A)
c.1453+15G>A (n.1453+15G>A)
c.235+15G>A (n.235+15G>A)
n.605+15G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63487088G=CA2269945108ACEc.2305+15G= (n.2305+15G=)
c.583+15G= (n.583+15G=)
c.*375+15G= (n.*375+15G=)
c.486+15G= (n.486+15G=)
c.*225+15G= (n.*225+15G=)
c.73+15G= (n.73+15G=)
n.251+15G=
c.1756+15G= (n.1756+15G=)
c.643+15G= (n.643+15G=)
c.1738+15G= (n.1738+15G=)
c.1453+15G= (n.1453+15G=)
c.235+15G= (n.235+15G=)
n.605+15G=
17g.63487088G>TCA626843986ACEc.2305+15G>T (n.2305+15G>T)
c.583+15G>T (n.583+15G>T)
c.*375+15G>T (n.*375+15G>T)
c.486+15G>T (n.486+15G>T)
c.*225+15G>T (n.*225+15G>T)
c.73+15G>T (n.73+15G>T)
n.251+15G>T
c.1756+15G>T (n.1756+15G>T)
c.643+15G>T (n.643+15G>T)
c.1738+15G>T (n.1738+15G>T)
c.1453+15G>T (n.1453+15G>T)
c.235+15G>T (n.235+15G>T)
n.605+15G>T
 dbSNP gnomAD v2

Number of alleles fetched