Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
7	g.75985947T>A	CA367750477	POR	c.1469T>A (p.Leu490Gln) c.1595T>A (p.Leu532Gln) c.1694T>A (p.Leu565Gln) c.109-113T>A (n.109-113T>A) c.908T>A (p.Leu303Gln) c.1845T>A c.999T>A (n.999T>A) n.305T>A c.1748T>A (p.Leu583Gln) c.1544T>A (p.Leu515Gln) c.1685T>A (p.Leu562Gln) c.1739T>A (p.Leu580Gln) c.1535T>A (p.Leu512Gln)
7	g.75985947T>C	CA367750478	POR	c.1469T>C (p.Leu490Pro) c.1595T>C (p.Leu532Pro) c.1694T>C (p.Leu565Pro) c.109-113T>C (n.109-113T>C) c.908T>C (p.Leu303Pro) c.1845T>C c.999T>C (n.999T>C) n.305T>C c.1748T>C (p.Leu583Pro) c.1544T>C (p.Leu515Pro) c.1685T>C (p.Leu562Pro) c.1739T>C (p.Leu580Pro) c.1535T>C (p.Leu512Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985947T>G	CA367750479	POR	c.1469T>G (p.Leu490Arg) c.1595T>G (p.Leu532Arg) c.1694T>G (p.Leu565Arg) c.109-113T>G (n.109-113T>G) c.908T>G (p.Leu303Arg) c.1845T>G c.999T>G (n.999T>G) n.305T>G c.1748T>G (p.Leu583Arg) c.1544T>G (p.Leu515Arg) c.1685T>G (p.Leu562Arg) c.1739T>G (p.Leu580Arg) c.1535T>G (p.Leu512Arg)
7	g.75985947T=	CA1718180438	POR	c.1469T= (p.Leu490=) c.1595T= (p.Leu532=) c.1694T= (p.Leu565=) c.109-113T= (n.109-113T=) c.908T= (p.Leu303=) c.1845T= c.999T= (n.999T=) n.305T= c.1748T= (p.Leu583=) c.1544T= (p.Leu515=) c.1685T= (p.Leu562=) c.1739T= (p.Leu580=) c.1535T= (p.Leu512=)
7	g.75985948G>A	CA456331358	POR	c.1470G>A (p.Leu490=) c.1596G>A (p.Leu532=) c.1695G>A (p.Leu565=) c.109-112G>A (n.109-112G>A) c.909G>A (p.Leu303=) c.1846G>A c.1000G>A (n.1000G>A) n.306G>A c.1749G>A (p.Leu583=) c.1545G>A (p.Leu515=) c.1686G>A (p.Leu562=) c.1740G>A (p.Leu580=) c.1536G>A (p.Leu512=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985948G>C	CA4304250	POR	c.1470G>C (p.Leu490=) c.1596G>C (p.Leu532=) c.1695G>C (p.Leu565=) c.109-112G>C (n.109-112G>C) c.909G>C (p.Leu303=) c.1846G>C c.1000G>C (n.1000G>C) n.306G>C c.1749G>C (p.Leu583=) c.1545G>C (p.Leu515=) c.1686G>C (p.Leu562=) c.1740G>C (p.Leu580=) c.1536G>C (p.Leu512=)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.75985948G=	CA1718180439	POR	c.1470G= (p.Leu490=) c.1596G= (p.Leu532=) c.1695G= (p.Leu565=) c.109-112G= (n.109-112G=) c.909G= (p.Leu303=) c.1846G= c.1000G= (n.1000G=) n.306G= c.1749G= (p.Leu583=) c.1545G= (p.Leu515=) c.1686G= (p.Leu562=) c.1740G= (p.Leu580=) c.1536G= (p.Leu512=)
7	g.75985948G>T	CA456331359	POR	c.1470G>T (p.Leu490=) c.1596G>T (p.Leu532=) c.1695G>T (p.Leu565=) c.109-112G>T (n.109-112G>T) c.909G>T (p.Leu303=) c.1846G>T c.1000G>T (n.1000G>T) n.306G>T c.1749G>T (p.Leu583=) c.1545G>T (p.Leu515=) c.1686G>T (p.Leu562=) c.1740G>T (p.Leu580=) c.1536G>T (p.Leu512=)
7	g.75985949T>A	CA367750480	POR	c.1471T>A (p.Tyr491Asn) c.1597T>A (p.Tyr533Asn) c.1696T>A (p.Tyr566Asn) c.109-111T>A (n.109-111T>A) c.910T>A (p.Tyr304Asn) c.1847T>A c.1001T>A (n.1001T>A) n.307T>A c.1750T>A (p.Tyr584Asn) c.1546T>A (p.Tyr516Asn) c.1687T>A (p.Tyr563Asn) c.1741T>A (p.Tyr581Asn) c.1537T>A (p.Tyr513Asn)
7	g.75985949T>C	CA367750481	POR	c.1471T>C (p.Tyr491His) c.1597T>C (p.Tyr533His) c.1696T>C (p.Tyr566His) c.109-111T>C (n.109-111T>C) c.910T>C (p.Tyr304His) c.1847T>C c.1001T>C (n.1001T>C) n.307T>C c.1750T>C (p.Tyr584His) c.1546T>C (p.Tyr516His) c.1687T>C (p.Tyr563His) c.1741T>C (p.Tyr581His) c.1537T>C (p.Tyr513His)
7	g.75985949T>G	CA367750482	POR	c.1471T>G (p.Tyr491Asp) c.1597T>G (p.Tyr533Asp) c.1696T>G (p.Tyr566Asp) c.109-111T>G (n.109-111T>G) c.910T>G (p.Tyr304Asp) c.1847T>G c.1001T>G (n.1001T>G) n.307T>G c.1750T>G (p.Tyr584Asp) c.1546T>G (p.Tyr516Asp) c.1687T>G (p.Tyr563Asp) c.1741T>G (p.Tyr581Asp) c.1537T>G (p.Tyr513Asp)
7	g.75985950A>C	CA367750483	POR	c.1472A>C (p.Tyr491Ser) c.1598A>C (p.Tyr533Ser) c.1697A>C (p.Tyr566Ser) c.109-110A>C (n.109-110A>C) c.911A>C (p.Tyr304Ser) c.1848A>C c.1002A>C (n.1002A>C) n.308A>C c.1751A>C (p.Tyr584Ser) c.1547A>C (p.Tyr516Ser) c.1688A>C (p.Tyr563Ser) c.1742A>C (p.Tyr581Ser) c.1538A>C (p.Tyr513Ser)
7	g.75985950A>G	CA367750484	POR	c.1472A>G (p.Tyr491Cys) c.1598A>G (p.Tyr533Cys) c.1697A>G (p.Tyr566Cys) c.109-110A>G (n.109-110A>G) c.911A>G (p.Tyr304Cys) c.1848A>G c.1002A>G (n.1002A>G) n.308A>G c.1751A>G (p.Tyr584Cys) c.1547A>G (p.Tyr516Cys) c.1688A>G (p.Tyr563Cys) c.1742A>G (p.Tyr581Cys) c.1538A>G (p.Tyr513Cys)	gnomAD v4
7	g.75985950A>T	CA367750485	POR	c.1472A>T (p.Tyr491Phe) c.1598A>T (p.Tyr533Phe) c.1697A>T (p.Tyr566Phe) c.109-110A>T (n.109-110A>T) c.911A>T (p.Tyr304Phe) c.1848A>T c.1002A>T (n.1002A>T) n.308A>T c.1751A>T (p.Tyr584Phe) c.1547A>T (p.Tyr516Phe) c.1688A>T (p.Tyr563Phe) c.1742A>T (p.Tyr581Phe) c.1538A>T (p.Tyr513Phe)
7	g.75985951C>A	CA367750487	POR	c.1473C>A (p.Tyr491Ter) c.1599C>A (p.Tyr533Ter) c.1698C>A (p.Tyr566Ter) c.109-109C>A (n.109-109C>A) c.912C>A (p.Tyr304Ter) c.1849C>A c.1003C>A (n.1003C>A) n.309C>A c.1752C>A (p.Tyr584Ter) c.1548C>A (p.Tyr516Ter) c.1689C>A (p.Tyr563Ter) c.1743C>A (p.Tyr581Ter) c.1539C>A (p.Tyr513Ter)	gnomAD v4
7	g.75985951C=	CA1718180440	POR	c.1473C= (p.Tyr491=) c.1599C= (p.Tyr533=) c.1698C= (p.Tyr566=) c.109-109C= (n.109-109C=) c.912C= (p.Tyr304=) c.1849C= c.1003C= (n.1003C=) n.309C= c.1752C= (p.Tyr584=) c.1548C= (p.Tyr516=) c.1689C= (p.Tyr563=) c.1743C= (p.Tyr581=) c.1539C= (p.Tyr513=)
7	g.75985951C>G	CA367750486	POR	c.1473C>G (p.Tyr491Ter) c.1599C>G (p.Tyr533Ter) c.1698C>G (p.Tyr566Ter) c.109-109C>G (n.109-109C>G) c.912C>G (p.Tyr304Ter) c.1849C>G c.1003C>G (n.1003C>G) n.309C>G c.1752C>G (p.Tyr584Ter) c.1548C>G (p.Tyr516Ter) c.1689C>G (p.Tyr563Ter) c.1743C>G (p.Tyr581Ter) c.1539C>G (p.Tyr513Ter)
7	g.75985951C>T	CA4304251	POR	c.1473C>T (p.Tyr491=) c.1599C>T (p.Tyr533=) c.1698C>T (p.Tyr566=) c.109-109C>T (n.109-109C>T) c.912C>T (p.Tyr304=) c.1849C>T c.1003C>T (n.1003C>T) n.309C>T c.1752C>T (p.Tyr584=) c.1548C>T (p.Tyr516=) c.1689C>T (p.Tyr563=) c.1743C>T (p.Tyr581=) c.1539C>T (p.Tyr513=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.75985951dup	CA2695207853	POR	c.1473dup (p.Tyr492LeufsTer8) c.1599dup (p.Tyr534LeufsTer8) c.1698dup (p.Tyr567LeufsTer8) c.109-109dup (n.109-109dup) c.912dup (p.Tyr305LeufsTer8) c.1849dup c.1003dup (n.1003dup) n.309dup c.1752dup (p.Tyr585LeufsTer8) c.1548dup (p.Tyr517LeufsTer8) c.1689dup (p.Tyr564LeufsTer8) c.1743dup (p.Tyr582LeufsTer8) c.1539dup (p.Tyr514LeufsTer8)
7	g.75985952T>A	CA367750488	POR	c.1474T>A (p.Tyr492Asn) c.1600T>A (p.Tyr534Asn) c.1699T>A (p.Tyr567Asn) c.109-108T>A (n.109-108T>A) c.913T>A (p.Tyr305Asn) c.1850T>A c.1004T>A (n.1004T>A) n.310T>A c.1753T>A (p.Tyr585Asn) c.1549T>A (p.Tyr517Asn) c.1690T>A (p.Tyr564Asn) c.1744T>A (p.Tyr582Asn) c.1540T>A (p.Tyr514Asn)	gnomAD v4
7	g.75985952T>C	CA367750489	POR	c.1474T>C (p.Tyr492His) c.1600T>C (p.Tyr534His) c.1699T>C (p.Tyr567His) c.109-108T>C (n.109-108T>C) c.913T>C (p.Tyr305His) c.1850T>C c.1004T>C (n.1004T>C) n.310T>C c.1753T>C (p.Tyr585His) c.1549T>C (p.Tyr517His) c.1690T>C (p.Tyr564His) c.1744T>C (p.Tyr582His) c.1540T>C (p.Tyr514His)	gnomAD v4
7	g.75985952T>G	CA367750490	POR	c.1474T>G (p.Tyr492Asp) c.1600T>G (p.Tyr534Asp) c.1699T>G (p.Tyr567Asp) c.109-108T>G (n.109-108T>G) c.913T>G (p.Tyr305Asp) c.1850T>G c.1004T>G (n.1004T>G) n.310T>G c.1753T>G (p.Tyr585Asp) c.1549T>G (p.Tyr517Asp) c.1690T>G (p.Tyr564Asp) c.1744T>G (p.Tyr582Asp) c.1540T>G (p.Tyr514Asp)
7	g.75985952_75985953dup	CA2740097376	POR	c.1474_1475dup (p.Gly493ThrfsTer?) c.1600_1601dup (p.Gly535ThrfsTer?) c.1699_1700dup (p.Gly568ThrfsTer?) c.109-108_109-107dup (n.109-108_109-107dup) c.913_914dup (p.Gly306ThrfsTer?) c.1850_1851dup c.1004_1005dup (n.1004_1005dup) n.310_311dup c.1753_1754dup (p.Gly586ThrfsTer?) c.1549_1550dup (p.Gly518ThrfsTer?) c.1690_1691dup (p.Gly565ThrfsTer?) c.1744_1745dup (p.Gly583ThrfsTer?) c.1540_1541dup (p.Gly515ThrfsTer?)	ClinVar
7	g.75985953A=	CA1718180441	POR	c.1475A= (p.Tyr492=) c.1601A= (p.Tyr534=) c.1700A= (p.Tyr567=) c.109-107A= (n.109-107A=) c.914A= (p.Tyr305=) c.1851A= c.1005A= (n.1005A=) n.311A= c.1754A= (p.Tyr585=) c.1550A= (p.Tyr517=) c.1691A= (p.Tyr564=) c.1745A= (p.Tyr582=) c.1541A= (p.Tyr514=)
7	g.75985953A>C	CA367750491	POR	c.1475A>C (p.Tyr492Ser) c.1601A>C (p.Tyr534Ser) c.1700A>C (p.Tyr567Ser) c.109-107A>C (n.109-107A>C) c.914A>C (p.Tyr305Ser) c.1851A>C c.1005A>C (n.1005A>C) n.311A>C c.1754A>C (p.Tyr585Ser) c.1550A>C (p.Tyr517Ser) c.1691A>C (p.Tyr564Ser) c.1745A>C (p.Tyr582Ser) c.1541A>C (p.Tyr514Ser)
7	g.75985953A>G	CA367750492	POR	c.1475A>G (p.Tyr492Cys) c.1601A>G (p.Tyr534Cys) c.1700A>G (p.Tyr567Cys) c.109-107A>G (n.109-107A>G) c.914A>G (p.Tyr305Cys) c.1851A>G c.1005A>G (n.1005A>G) n.311A>G c.1754A>G (p.Tyr585Cys) c.1550A>G (p.Tyr517Cys) c.1691A>G (p.Tyr564Cys) c.1745A>G (p.Tyr582Cys) c.1541A>G (p.Tyr514Cys)	dbSNP gnomAD v2 gnomAD v4
7	g.75985953A>T	CA367750493	POR	c.1475A>T (p.Tyr492Phe) c.1601A>T (p.Tyr534Phe) c.1700A>T (p.Tyr567Phe) c.109-107A>T (n.109-107A>T) c.914A>T (p.Tyr305Phe) c.1851A>T c.1005A>T (n.1005A>T) n.311A>T c.1754A>T (p.Tyr585Phe) c.1550A>T (p.Tyr517Phe) c.1691A>T (p.Tyr564Phe) c.1745A>T (p.Tyr582Phe) c.1541A>T (p.Tyr514Phe)	gnomAD v4
7	g.75985954C>A	CA367750494	POR	c.1476C>A (p.Tyr492Ter) c.1602C>A (p.Tyr534Ter) c.1701C>A (p.Tyr567Ter) c.109-106C>A (n.109-106C>A) c.915C>A (p.Tyr305Ter) c.1852C>A c.1006C>A (n.1006C>A) n.312C>A c.1755C>A (p.Tyr585Ter) c.1551C>A (p.Tyr517Ter) c.1692C>A (p.Tyr564Ter) c.1746C>A (p.Tyr582Ter) c.1542C>A (p.Tyr514Ter)	gnomAD v4
7	g.75985954C=	CA1718180442	POR	c.1476C= (p.Tyr492=) c.1602C= (p.Tyr534=) c.1701C= (p.Tyr567=) c.109-106C= (n.109-106C=) c.915C= (p.Tyr305=) c.1852C= c.1006C= (n.1006C=) n.312C= c.1755C= (p.Tyr585=) c.1551C= (p.Tyr517=) c.1692C= (p.Tyr564=) c.1746C= (p.Tyr582=) c.1542C= (p.Tyr514=)
7	g.75985954C>G	CA367750495	POR	c.1476C>G (p.Tyr492Ter) c.1602C>G (p.Tyr534Ter) c.1701C>G (p.Tyr567Ter) c.109-106C>G (n.109-106C>G) c.915C>G (p.Tyr305Ter) c.1852C>G c.1006C>G (n.1006C>G) n.312C>G c.1755C>G (p.Tyr585Ter) c.1551C>G (p.Tyr517Ter) c.1692C>G (p.Tyr564Ter) c.1746C>G (p.Tyr582Ter) c.1542C>G (p.Tyr514Ter)
7	g.75985954C>T	CA4304252	POR	c.1476C>T (p.Tyr492=) c.1602C>T (p.Tyr534=) c.1701C>T (p.Tyr567=) c.109-106C>T (n.109-106C>T) c.915C>T (p.Tyr305=) c.1852C>T c.1006C>T (n.1006C>T) n.312C>T c.1755C>T (p.Tyr585=) c.1551C>T (p.Tyr517=) c.1692C>T (p.Tyr564=) c.1746C>T (p.Tyr582=) c.1542C>T (p.Tyr514=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7	g.75985955G>A	CA4304253	POR	c.1477G>A (p.Gly493Ser) c.1603G>A (p.Gly535Ser) c.1702G>A (p.Gly568Ser) c.109-105G>A (n.109-105G>A) c.916G>A (p.Gly306Ser) c.1853G>A c.1007G>A (n.1007G>A) n.313G>A c.1756G>A (p.Gly586Ser) c.1552G>A (p.Gly518Ser) c.1693G>A (p.Gly565Ser) c.1747G>A (p.Gly583Ser) c.1543G>A (p.Gly515Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985955G>C	CA367750496	POR	c.1477G>C (p.Gly493Arg) c.1603G>C (p.Gly535Arg) c.1702G>C (p.Gly568Arg) c.109-105G>C (n.109-105G>C) c.916G>C (p.Gly306Arg) c.1853G>C c.1007G>C (n.1007G>C) n.313G>C c.1756G>C (p.Gly586Arg) c.1552G>C (p.Gly518Arg) c.1693G>C (p.Gly565Arg) c.1747G>C (p.Gly583Arg) c.1543G>C (p.Gly515Arg)
7	g.75985955G=	CA1718180443	POR	c.1477G= (p.Gly493=) c.1603G= (p.Gly535=) c.1702G= (p.Gly568=) c.109-105G= (n.109-105G=) c.916G= (p.Gly306=) c.1853G= c.1007G= (n.1007G=) n.313G= c.1756G= (p.Gly586=) c.1552G= (p.Gly518=) c.1693G= (p.Gly565=) c.1747G= (p.Gly583=) c.1543G= (p.Gly515=)
7	g.75985955G>T	CA367750497	POR	c.1477G>T (p.Gly493Cys) c.1603G>T (p.Gly535Cys) c.1702G>T (p.Gly568Cys) c.109-105G>T (n.109-105G>T) c.916G>T (p.Gly306Cys) c.1853G>T c.1007G>T (n.1007G>T) n.313G>T c.1756G>T (p.Gly586Cys) c.1552G>T (p.Gly518Cys) c.1693G>T (p.Gly565Cys) c.1747G>T (p.Gly583Cys) c.1543G>T (p.Gly515Cys)	gnomAD v4
7	g.75985956G>A	CA367750500	POR	c.1478G>A (p.Gly493Asp) c.1604G>A (p.Gly535Asp) c.1703G>A (p.Gly568Asp) c.109-104G>A (n.109-104G>A) c.917G>A (p.Gly306Asp) c.1854G>A c.1008G>A (n.1008G>A) n.314G>A c.1757G>A (p.Gly586Asp) c.1553G>A (p.Gly518Asp) c.1694G>A (p.Gly565Asp) c.1748G>A (p.Gly583Asp) c.1544G>A (p.Gly515Asp)	gnomAD v4
7	g.75985956G>C	CA367750499	POR	c.1478G>C (p.Gly493Ala) c.1604G>C (p.Gly535Ala) c.1703G>C (p.Gly568Ala) c.109-104G>C (n.109-104G>C) c.917G>C (p.Gly306Ala) c.1854G>C c.1008G>C (n.1008G>C) n.314G>C c.1757G>C (p.Gly586Ala) c.1553G>C (p.Gly518Ala) c.1694G>C (p.Gly565Ala) c.1748G>C (p.Gly583Ala) c.1544G>C (p.Gly515Ala)
7	g.75985956G>T	CA367750498	POR	c.1478G>T (p.Gly493Val) c.1604G>T (p.Gly535Val) c.1703G>T (p.Gly568Val) c.109-104G>T (n.109-104G>T) c.917G>T (p.Gly306Val) c.1854G>T c.1008G>T (n.1008G>T) n.314G>T c.1757G>T (p.Gly586Val) c.1553G>T (p.Gly518Val) c.1694G>T (p.Gly565Val) c.1748G>T (p.Gly583Val) c.1544G>T (p.Gly515Val)	gnomAD v4
7	g.75985958_75985960del	CA913127821	POR	c.1480_1482del (p.Cys494del) c.1606_1608del (p.Cys536del) c.1705_1707del (p.Cys569del) c.109-102_109-100del (n.109-102_109-100del) c.919_921del (p.Cys307del) c.1856_1858del c.1010_1012del (n.1010_1012del) n.316_318del c.1759_1761del (p.Cys587del) c.1555_1557del (p.Cys519del) c.1696_1698del (p.Cys566del) c.1750_1752del (p.Cys584del) c.1546_1548del (p.Cys516del)
7	g.75985957C>A	CA456331361	POR	c.1479C>A (p.Gly493=) c.1605C>A (p.Gly535=) c.1704C>A (p.Gly568=) c.109-103C>A (n.109-103C>A) c.918C>A (p.Gly306=) c.1855C>A c.1009C>A (n.1009C>A) n.315C>A c.1758C>A (p.Gly586=) c.1554C>A (p.Gly518=) c.1695C>A (p.Gly565=) c.1749C>A (p.Gly583=) c.1545C>A (p.Gly515=)	gnomAD v4
7	g.75985957C=	CA1718180444	POR	c.1479C= (p.Gly493=) c.1605C= (p.Gly535=) c.1704C= (p.Gly568=) c.109-103C= (n.109-103C=) c.918C= (p.Gly306=) c.1855C= c.1009C= (n.1009C=) n.315C= c.1758C= (p.Gly586=) c.1554C= (p.Gly518=) c.1695C= (p.Gly565=) c.1749C= (p.Gly583=) c.1545C= (p.Gly515=)
7	g.75985957C>G	CA456331362	POR	c.1479C>G (p.Gly493=) c.1605C>G (p.Gly535=) c.1704C>G (p.Gly568=) c.109-103C>G (n.109-103C>G) c.918C>G (p.Gly306=) c.1855C>G c.1009C>G (n.1009C>G) n.315C>G c.1758C>G (p.Gly586=) c.1554C>G (p.Gly518=) c.1695C>G (p.Gly565=) c.1749C>G (p.Gly583=) c.1545C>G (p.Gly515=)	dbSNP
7	g.75985957C>T	CA456331363	POR	c.1479C>T (p.Gly493=) c.1605C>T (p.Gly535=) c.1704C>T (p.Gly568=) c.109-103C>T (n.109-103C>T) c.918C>T (p.Gly306=) c.1855C>T c.1009C>T (n.1009C>T) n.315C>T c.1758C>T (p.Gly586=) c.1554C>T (p.Gly518=) c.1695C>T (p.Gly565=) c.1749C>T (p.Gly583=) c.1545C>T (p.Gly515=)	gnomAD v4
7	g.75985958T>A	CA367750503	POR	c.1480T>A (p.Cys494Ser) c.1606T>A (p.Cys536Ser) c.1705T>A (p.Cys569Ser) c.109-102T>A (n.109-102T>A) c.919T>A (p.Cys307Ser) c.1856T>A c.1010T>A (n.1010T>A) n.316T>A c.1759T>A (p.Cys587Ser) c.1555T>A (p.Cys519Ser) c.1696T>A (p.Cys566Ser) c.1750T>A (p.Cys584Ser) c.1546T>A (p.Cys516Ser)
7	g.75985958T>C	CA367750501	POR	c.1480T>C (p.Cys494Arg) c.1606T>C (p.Cys536Arg) c.1705T>C (p.Cys569Arg) c.109-102T>C (n.109-102T>C) c.919T>C (p.Cys307Arg) c.1856T>C c.1010T>C (n.1010T>C) n.316T>C c.1759T>C (p.Cys587Arg) c.1555T>C (p.Cys519Arg) c.1696T>C (p.Cys566Arg) c.1750T>C (p.Cys584Arg) c.1546T>C (p.Cys516Arg)	gnomAD v4
7	g.75985958T>G	CA367750502	POR	c.1480T>G (p.Cys494Gly) c.1606T>G (p.Cys536Gly) c.1705T>G (p.Cys569Gly) c.109-102T>G (n.109-102T>G) c.919T>G (p.Cys307Gly) c.1856T>G c.1010T>G (n.1010T>G) n.316T>G c.1759T>G (p.Cys587Gly) c.1555T>G (p.Cys519Gly) c.1696T>G (p.Cys566Gly) c.1750T>G (p.Cys584Gly) c.1546T>G (p.Cys516Gly)	gnomAD v4
7	g.75985958T=	CA1718180445	POR	c.1480T= (p.Cys494=) c.1606T= (p.Cys536=) c.1705T= (p.Cys569=) c.109-102T= (n.109-102T=) c.919T= (p.Cys307=) c.1856T= c.1010T= (n.1010T=) n.316T= c.1759T= (p.Cys587=) c.1555T= (p.Cys519=) c.1696T= (p.Cys566=) c.1750T= (p.Cys584=) c.1546T= (p.Cys516=)
7	g.75985959G>A	CA257655	POR	c.1481G>A (p.Cys494Tyr) c.1607G>A (p.Cys536Tyr) c.1706G>A (p.Cys569Tyr) c.109-101G>A (n.109-101G>A) c.920G>A (p.Cys307Tyr) c.1857G>A c.1011G>A (n.1011G>A) n.317G>A c.1760G>A (p.Cys587Tyr) c.1556G>A (p.Cys519Tyr) c.1697G>A (p.Cys566Tyr) c.1751G>A (p.Cys584Tyr) c.1547G>A (p.Cys516Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985959G>C	CA367750505	POR	c.1481G>C (p.Cys494Ser) c.1607G>C (p.Cys536Ser) c.1706G>C (p.Cys569Ser) c.109-101G>C (n.109-101G>C) c.920G>C (p.Cys307Ser) c.1857G>C c.1011G>C (n.1011G>C) n.317G>C c.1760G>C (p.Cys587Ser) c.1556G>C (p.Cys519Ser) c.1697G>C (p.Cys566Ser) c.1751G>C (p.Cys584Ser) c.1547G>C (p.Cys516Ser)
7	g.75985959G=	CA1718180446	POR	c.1481G= (p.Cys494=) c.1607G= (p.Cys536=) c.1706G= (p.Cys569=) c.109-101G= (n.109-101G=) c.920G= (p.Cys307=) c.1857G= c.1011G= (n.1011G=) n.317G= c.1760G= (p.Cys587=) c.1556G= (p.Cys519=) c.1697G= (p.Cys566=) c.1751G= (p.Cys584=) c.1547G= (p.Cys516=)
7	g.75985959G>T	CA367750506	POR	c.1481G>T (p.Cys494Phe) c.1607G>T (p.Cys536Phe) c.1706G>T (p.Cys569Phe) c.109-101G>T (n.109-101G>T) c.920G>T (p.Cys307Phe) c.1857G>T c.1011G>T (n.1011G>T) n.317G>T c.1760G>T (p.Cys587Phe) c.1556G>T (p.Cys519Phe) c.1697G>T (p.Cys566Phe) c.1751G>T (p.Cys584Phe) c.1547G>T (p.Cys516Phe)	gnomAD v4
7	g.75985959dup	CA367750504	POR	c.1481dup (p.Cys494TrpfsTer6) c.1607dup (p.Cys536TrpfsTer6) c.1706dup (p.Cys569TrpfsTer6) c.109-101dup (n.109-101dup) c.920dup (p.Cys307TrpfsTer6) c.1857dup c.1011dup (n.1011dup) n.317dup c.1760dup (p.Cys587TrpfsTer6) c.1556dup (p.Cys519TrpfsTer6) c.1697dup (p.Cys566TrpfsTer6) c.1751dup (p.Cys584TrpfsTer6) c.1547dup (p.Cys516TrpfsTer6)	dbSNP
7	g.75985959_75985961delinsGCC	CA1718180447	POR	c.1481_1483delinsGCC (p.Cys494=) c.1607_1609delinsGCC (p.Cys536=) c.1706_1708delinsGCC (p.Cys569=) c.109-101_109-99delinsGCC (n.109-101_109-99delinsGCC) c.920_922delinsGCC (p.Cys307=) c.1857_1859delinsGCC c.1011_1013delinsGCC (n.1011_1013delinsGCC) n.317_319delinsGCC c.1760_1762delinsGCC (p.Cys587=) c.1556_1558delinsGCC (p.Cys519=) c.1697_1699delinsGCC (p.Cys566=) c.1751_1753delinsGCC (p.Cys584=) c.1547_1549delinsGCC (p.Cys516=)
7	g.75985960C>A	CA4304255	POR	c.1482C>A (p.Cys494Ter) c.1608C>A (p.Cys536Ter) c.1707C>A (p.Cys569Ter) c.109-100C>A (n.109-100C>A) c.921C>A (p.Cys307Ter) c.1858C>A c.1012C>A (n.1012C>A) n.318C>A c.1761C>A (p.Cys587Ter) c.1557C>A (p.Cys519Ter) c.1698C>A (p.Cys566Ter) c.1752C>A (p.Cys584Ter) c.1548C>A (p.Cys516Ter)	dbSNP ExAC gnomAD v4
7	g.75985960C=	CA1718180448	POR	c.1482C= (p.Cys494=) c.1608C= (p.Cys536=) c.1707C= (p.Cys569=) c.109-100C= (n.109-100C=) c.921C= (p.Cys307=) c.1858C= c.1012C= (n.1012C=) n.318C= c.1761C= (p.Cys587=) c.1557C= (p.Cys519=) c.1698C= (p.Cys566=) c.1752C= (p.Cys584=) c.1548C= (p.Cys516=)
7	g.75985960C>G	CA4304254	POR	c.1482C>G (p.Cys494Trp) c.1608C>G (p.Cys536Trp) c.1707C>G (p.Cys569Trp) c.109-100C>G (n.109-100C>G) c.921C>G (p.Cys307Trp) c.1858C>G c.1012C>G (n.1012C>G) n.318C>G c.1761C>G (p.Cys587Trp) c.1557C>G (p.Cys519Trp) c.1698C>G (p.Cys566Trp) c.1752C>G (p.Cys584Trp) c.1548C>G (p.Cys516Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.75985960C>T	CA456331365	POR	c.1482C>T (p.Cys494=) c.1608C>T (p.Cys536=) c.1707C>T (p.Cys569=) c.109-100C>T (n.109-100C>T) c.921C>T (p.Cys307=) c.1858C>T c.1012C>T (n.1012C>T) n.318C>T c.1761C>T (p.Cys587=) c.1557C>T (p.Cys519=) c.1698C>T (p.Cys566=) c.1752C>T (p.Cys584=) c.1548C>T (p.Cys516=)	dbSNP gnomAD v4
7	g.75985960_75985961del	CA456331364	POR	c.1482_1483del (p.Cys494TrpfsTer5) c.1608_1609del (p.Cys536TrpfsTer5) c.1707_1708del (p.Cys569TrpfsTer5) c.109-100_109-99del (n.109-100_109-99del) c.921_922del (p.Cys307TrpfsTer5) c.1858_1859del c.1012_1013del (n.1012_1013del) n.318_319del c.1761_1762del (p.Cys587TrpfsTer5) c.1557_1558del (p.Cys519TrpfsTer5) c.1698_1699del (p.Cys566TrpfsTer5) c.1752_1753del (p.Cys584TrpfsTer5) c.1548_1549del (p.Cys516TrpfsTer5)	dbSNP
7	g.75985961C>A	CA367750507	POR	c.1483C>A (p.Arg495Ser) c.1609C>A (p.Arg537Ser) c.1708C>A (p.Arg570Ser) c.109-99C>A (n.109-99C>A) c.922C>A (p.Arg308Ser) c.1859C>A c.1013C>A (n.1013C>A) n.319C>A c.1762C>A (p.Arg588Ser) c.1558C>A (p.Arg520Ser) c.1699C>A (p.Arg567Ser) c.1753C>A (p.Arg585Ser) c.1549C>A (p.Arg517Ser)	gnomAD v4
7	g.75985961C=	CA1718180449	POR	c.1483C= (p.Arg495=) c.1609C= (p.Arg537=) c.1708C= (p.Arg570=) c.109-99C= (n.109-99C=) c.922C= (p.Arg308=) c.1859C= c.1013C= (n.1013C=) n.319C= c.1762C= (p.Arg588=) c.1558C= (p.Arg520=) c.1699C= (p.Arg567=) c.1753C= (p.Arg585=) c.1549C= (p.Arg517=)
7	g.75985961C>G	CA367750509	POR	c.1483C>G (p.Arg495Gly) c.1609C>G (p.Arg537Gly) c.1708C>G (p.Arg570Gly) c.109-99C>G (n.109-99C>G) c.922C>G (p.Arg308Gly) c.1859C>G c.1013C>G (n.1013C>G) n.319C>G c.1762C>G (p.Arg588Gly) c.1558C>G (p.Arg520Gly) c.1699C>G (p.Arg567Gly) c.1753C>G (p.Arg585Gly) c.1549C>G (p.Arg517Gly)
7	g.75985961C>T	CA4304256	POR	c.1483C>T (p.Arg495Cys) c.1609C>T (p.Arg537Cys) c.1708C>T (p.Arg570Cys) c.109-99C>T (n.109-99C>T) c.922C>T (p.Arg308Cys) c.1859C>T c.1013C>T (n.1013C>T) n.319C>T c.1762C>T (p.Arg588Cys) c.1558C>T (p.Arg520Cys) c.1699C>T (p.Arg567Cys) c.1753C>T (p.Arg585Cys) c.1549C>T (p.Arg517Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985962_75985963del	CA367750508	POR	c.1484_1485del (p.Arg495ProfsTer4) c.1610_1611del (p.Arg537ProfsTer4) c.1709_1710del (p.Arg570ProfsTer4) c.109-98_109-97del (n.109-98_109-97del) c.923_924del (p.Arg308ProfsTer4) c.1860_1861del c.1014_1015del (n.1014_1015del) n.320_321del c.1763_1764del (p.Arg588ProfsTer4) c.1559_1560del (p.Arg520ProfsTer4) c.1700_1701del (p.Arg567ProfsTer4) c.1754_1755del (p.Arg585ProfsTer4) c.1550_1551del (p.Arg517ProfsTer4)
7	g.75985962G>A	CA4304257	POR	c.1484G>A (p.Arg495His) c.1610G>A (p.Arg537His) c.1709G>A (p.Arg570His) c.109-98G>A (n.109-98G>A) c.923G>A (p.Arg308His) c.1860G>A c.1014G>A (n.1014G>A) n.320G>A c.1763G>A (p.Arg588His) c.1559G>A (p.Arg520His) c.1700G>A (p.Arg567His) c.1754G>A (p.Arg585His) c.1550G>A (p.Arg517His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985962G>C	CA367750510	POR	c.1484G>C (p.Arg495Pro) c.1610G>C (p.Arg537Pro) c.1709G>C (p.Arg570Pro) c.109-98G>C (n.109-98G>C) c.923G>C (p.Arg308Pro) c.1860G>C c.1014G>C (n.1014G>C) n.320G>C c.1763G>C (p.Arg588Pro) c.1559G>C (p.Arg520Pro) c.1700G>C (p.Arg567Pro) c.1754G>C (p.Arg585Pro) c.1550G>C (p.Arg517Pro)
7	g.75985962G=	CA1718180450	POR	c.1484G= (p.Arg495=) c.1610G= (p.Arg537=) c.1709G= (p.Arg570=) c.109-98G= (n.109-98G=) c.923G= (p.Arg308=) c.1860G= c.1014G= (n.1014G=) n.320G= c.1763G= (p.Arg588=) c.1559G= (p.Arg520=) c.1700G= (p.Arg567=) c.1754G= (p.Arg585=) c.1550G= (p.Arg517=)
7	g.75985962G>T	CA367750511	POR	c.1484G>T (p.Arg495Leu) c.1610G>T (p.Arg537Leu) c.1709G>T (p.Arg570Leu) c.109-98G>T (n.109-98G>T) c.923G>T (p.Arg308Leu) c.1860G>T c.1014G>T (n.1014G>T) n.320G>T c.1763G>T (p.Arg588Leu) c.1559G>T (p.Arg520Leu) c.1700G>T (p.Arg567Leu) c.1754G>T (p.Arg585Leu) c.1550G>T (p.Arg517Leu)	gnomAD v4
7	g.75985963C>A	CA456331366	POR	c.1485C>A (p.Arg495=) c.1611C>A (p.Arg537=) c.1710C>A (p.Arg570=) c.109-97C>A (n.109-97C>A) c.924C>A (p.Arg308=) c.1861C>A c.1015C>A (n.1015C>A) n.321C>A c.1764C>A (p.Arg588=) c.1560C>A (p.Arg520=) c.1701C>A (p.Arg567=) c.1755C>A (p.Arg585=) c.1551C>A (p.Arg517=)	gnomAD v4
7	g.75985963C>G	CA456331367	POR	c.1485C>G (p.Arg495=) c.1611C>G (p.Arg537=) c.1710C>G (p.Arg570=) c.109-97C>G (n.109-97C>G) c.924C>G (p.Arg308=) c.1861C>G c.1015C>G (n.1015C>G) n.321C>G c.1764C>G (p.Arg588=) c.1560C>G (p.Arg520=) c.1701C>G (p.Arg567=) c.1755C>G (p.Arg585=) c.1551C>G (p.Arg517=)
7	g.75985963C>T	CA456331368	POR	c.1485C>T (p.Arg495=) c.1611C>T (p.Arg537=) c.1710C>T (p.Arg570=) c.109-97C>T (n.109-97C>T) c.924C>T (p.Arg308=) c.1861C>T c.1015C>T (n.1015C>T) n.321C>T c.1764C>T (p.Arg588=) c.1560C>T (p.Arg520=) c.1701C>T (p.Arg567=) c.1755C>T (p.Arg585=) c.1551C>T (p.Arg517=)	gnomAD v4
7	g.75985964C>A	CA367750513	POR	c.1486C>A (p.Arg496Ser) c.1612C>A (p.Arg538Ser) c.1711C>A (p.Arg571Ser) c.109-96C>A (n.109-96C>A) c.925C>A (p.Arg309Ser) c.1862C>A c.1016C>A (n.1016C>A) n.322C>A c.1765C>A (p.Arg589Ser) c.1561C>A (p.Arg521Ser) c.1702C>A (p.Arg568Ser) c.1756C>A (p.Arg586Ser) c.1552C>A (p.Arg518Ser)	gnomAD v4 COSMIC COSMIC
7	g.75985964C=	CA1718180451	POR	c.1486C= (p.Arg496=) c.1612C= (p.Arg538=) c.1711C= (p.Arg571=) c.109-96C= (n.109-96C=) c.925C= (p.Arg309=) c.1862C= c.1016C= (n.1016C=) n.322C= c.1765C= (p.Arg589=) c.1561C= (p.Arg521=) c.1702C= (p.Arg568=) c.1756C= (p.Arg586=) c.1552C= (p.Arg518=)
7	g.75985964C>G	CA367750512	POR	c.1486C>G (p.Arg496Gly) c.1612C>G (p.Arg538Gly) c.1711C>G (p.Arg571Gly) c.109-96C>G (n.109-96C>G) c.925C>G (p.Arg309Gly) c.1862C>G c.1016C>G (n.1016C>G) n.322C>G c.1765C>G (p.Arg589Gly) c.1561C>G (p.Arg521Gly) c.1702C>G (p.Arg568Gly) c.1756C>G (p.Arg586Gly) c.1552C>G (p.Arg518Gly)	gnomAD v4
7	g.75985964C>T	CA4304258	POR	c.1486C>T (p.Arg496Cys) c.1612C>T (p.Arg538Cys) c.1711C>T (p.Arg571Cys) c.109-96C>T (n.109-96C>T) c.925C>T (p.Arg309Cys) c.1862C>T c.1016C>T (n.1016C>T) n.322C>T c.1765C>T (p.Arg589Cys) c.1561C>T (p.Arg521Cys) c.1702C>T (p.Arg568Cys) c.1756C>T (p.Arg586Cys) c.1552C>T (p.Arg518Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985965G>A	CA4304259	POR	c.1487G>A (p.Arg496His) c.1613G>A (p.Arg538His) c.1712G>A (p.Arg571His) c.109-95G>A (n.109-95G>A) c.926G>A (p.Arg309His) c.1863G>A c.1017G>A (n.1017G>A) n.323G>A c.1766G>A (p.Arg589His) c.1562G>A (p.Arg521His) c.1703G>A (p.Arg568His) c.1757G>A (p.Arg586His) c.1553G>A (p.Arg518His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985965G>C	CA367750514	POR	c.1487G>C (p.Arg496Pro) c.1613G>C (p.Arg538Pro) c.1712G>C (p.Arg571Pro) c.109-95G>C (n.109-95G>C) c.926G>C (p.Arg309Pro) c.1863G>C c.1017G>C (n.1017G>C) n.323G>C c.1766G>C (p.Arg589Pro) c.1562G>C (p.Arg521Pro) c.1703G>C (p.Arg568Pro) c.1757G>C (p.Arg586Pro) c.1553G>C (p.Arg518Pro)
7	g.75985965G=	CA1718180452	POR	c.1487G= (p.Arg496=) c.1613G= (p.Arg538=) c.1712G= (p.Arg571=) c.109-95G= (n.109-95G=) c.926G= (p.Arg309=) c.1863G= c.1017G= (n.1017G=) n.323G= c.1766G= (p.Arg589=) c.1562G= (p.Arg521=) c.1703G= (p.Arg568=) c.1757G= (p.Arg586=) c.1553G= (p.Arg518=)
7	g.75985965G>T	CA367750515	POR	c.1487G>T (p.Arg496Leu) c.1613G>T (p.Arg538Leu) c.1712G>T (p.Arg571Leu) c.109-95G>T (n.109-95G>T) c.926G>T (p.Arg309Leu) c.1863G>T c.1017G>T (n.1017G>T) n.323G>T c.1766G>T (p.Arg589Leu) c.1562G>T (p.Arg521Leu) c.1703G>T (p.Arg568Leu) c.1757G>T (p.Arg586Leu) c.1553G>T (p.Arg518Leu)	dbSNP gnomAD v2 gnomAD v4
7	g.75985966C>A	CA456331376	POR	c.1488C>A (p.Arg496=) c.1614C>A (p.Arg538=) c.1713C>A (p.Arg571=) c.109-94C>A (n.109-94C>A) c.927C>A (p.Arg309=) c.1864C>A c.1018C>A (n.1018C>A) n.324C>A c.1767C>A (p.Arg589=) c.1563C>A (p.Arg521=) c.1704C>A (p.Arg568=) c.1758C>A (p.Arg586=) c.1554C>A (p.Arg518=)	gnomAD v4
7	g.75985966C>G	CA456331369	POR	c.1488C>G (p.Arg496=) c.1614C>G (p.Arg538=) c.1713C>G (p.Arg571=) c.109-94C>G (n.109-94C>G) c.927C>G (p.Arg309=) c.1864C>G c.1018C>G (n.1018C>G) n.324C>G c.1767C>G (p.Arg589=) c.1563C>G (p.Arg521=) c.1704C>G (p.Arg568=) c.1758C>G (p.Arg586=) c.1554C>G (p.Arg518=)
7	g.75985966C>T	CA456331370	POR	c.1488C>T (p.Arg496=) c.1614C>T (p.Arg538=) c.1713C>T (p.Arg571=) c.109-94C>T (n.109-94C>T) c.927C>T (p.Arg309=) c.1864C>T c.1018C>T (n.1018C>T) n.324C>T c.1767C>T (p.Arg589=) c.1563C>T (p.Arg521=) c.1704C>T (p.Arg568=) c.1758C>T (p.Arg586=) c.1554C>T (p.Arg518=)	gnomAD v4
7	g.75985967T>A	CA367750516	POR	c.1489T>A (p.Ser497Thr) c.1615T>A (p.Ser539Thr) c.1714T>A (p.Ser572Thr) c.109-93T>A (n.109-93T>A) c.928T>A (p.Ser310Thr) c.1865T>A c.1019T>A (n.1019T>A) n.325T>A c.1768T>A (p.Ser590Thr) c.1564T>A (p.Ser522Thr) c.1705T>A (p.Ser569Thr) c.1759T>A (p.Ser587Thr) c.1555T>A (p.Ser519Thr)
7	g.75985967T>C	CA367750517	POR	c.1489T>C (p.Ser497Pro) c.1615T>C (p.Ser539Pro) c.1714T>C (p.Ser572Pro) c.109-93T>C (n.109-93T>C) c.928T>C (p.Ser310Pro) c.1865T>C c.1019T>C (n.1019T>C) n.325T>C c.1768T>C (p.Ser590Pro) c.1564T>C (p.Ser522Pro) c.1705T>C (p.Ser569Pro) c.1759T>C (p.Ser587Pro) c.1555T>C (p.Ser519Pro)
7	g.75985967T>G	CA367750518	POR	c.1489T>G (p.Ser497Ala) c.1615T>G (p.Ser539Ala) c.1714T>G (p.Ser572Ala) c.109-93T>G (n.109-93T>G) c.928T>G (p.Ser310Ala) c.1865T>G c.1019T>G (n.1019T>G) n.325T>G c.1768T>G (p.Ser590Ala) c.1564T>G (p.Ser522Ala) c.1705T>G (p.Ser569Ala) c.1759T>G (p.Ser587Ala) c.1555T>G (p.Ser519Ala)
7	g.75985968C>A	CA367750519	POR	c.1490C>A (p.Ser497Ter) c.1616C>A (p.Ser539Ter) c.1715C>A (p.Ser572Ter) c.109-92C>A (n.109-92C>A) c.929C>A (p.Ser310Ter) c.1866C>A c.1020C>A (n.1020C>A) n.326C>A c.1769C>A (p.Ser590Ter) c.1565C>A (p.Ser522Ter) c.1706C>A (p.Ser569Ter) c.1760C>A (p.Ser587Ter) c.1556C>A (p.Ser519Ter)	gnomAD v4
7	g.75985968C=	CA1718180453	POR	c.1490C= (p.Ser497=) c.1616C= (p.Ser539=) c.1715C= (p.Ser572=) c.109-92C= (n.109-92C=) c.929C= (p.Ser310=) c.1866C= c.1020C= (n.1020C=) n.326C= c.1769C= (p.Ser590=) c.1565C= (p.Ser522=) c.1706C= (p.Ser569=) c.1760C= (p.Ser587=) c.1556C= (p.Ser519=)
7	g.75985968C>G	CA367750520	POR	c.1490C>G (p.Ser497Trp) c.1616C>G (p.Ser539Trp) c.1715C>G (p.Ser572Trp) c.109-92C>G (n.109-92C>G) c.929C>G (p.Ser310Trp) c.1866C>G c.1020C>G (n.1020C>G) n.326C>G c.1769C>G (p.Ser590Trp) c.1565C>G (p.Ser522Trp) c.1706C>G (p.Ser569Trp) c.1760C>G (p.Ser587Trp) c.1556C>G (p.Ser519Trp)
7	g.75985968C>T	CA4304260	POR	c.1490C>T (p.Ser497Leu) c.1616C>T (p.Ser539Leu) c.1715C>T (p.Ser572Leu) c.109-92C>T (n.109-92C>T) c.929C>T (p.Ser310Leu) c.1866C>T c.1020C>T (n.1020C>T) n.326C>T c.1769C>T (p.Ser590Leu) c.1565C>T (p.Ser522Leu) c.1706C>T (p.Ser569Leu) c.1760C>T (p.Ser587Leu) c.1556C>T (p.Ser519Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985969G>A	CA4304261	POR	c.1491G>A (p.Ser497=) c.1617G>A (p.Ser539=) c.1716G>A (p.Ser572=) c.109-91G>A (n.109-91G>A) c.930G>A (p.Ser310=) c.1867G>A c.1021G>A (n.1021G>A) n.327G>A c.1770G>A (p.Ser590=) c.1566G>A (p.Ser522=) c.1707G>A (p.Ser569=) c.1761G>A (p.Ser587=) c.1557G>A (p.Ser519=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985969G>C	CA456331379	POR	c.1491G>C (p.Ser497=) c.1617G>C (p.Ser539=) c.1716G>C (p.Ser572=) c.109-91G>C (n.109-91G>C) c.930G>C (p.Ser310=) c.1867G>C c.1021G>C (n.1021G>C) n.327G>C c.1770G>C (p.Ser590=) c.1566G>C (p.Ser522=) c.1707G>C (p.Ser569=) c.1761G>C (p.Ser587=) c.1557G>C (p.Ser519=)
7	g.75985969G=	CA1718180454	POR	c.1491G= (p.Ser497=) c.1617G= (p.Ser539=) c.1716G= (p.Ser572=) c.109-91G= (n.109-91G=) c.930G= (p.Ser310=) c.1867G= c.1021G= (n.1021G=) n.327G= c.1770G= (p.Ser590=) c.1566G= (p.Ser522=) c.1707G= (p.Ser569=) c.1761G= (p.Ser587=) c.1557G= (p.Ser519=)
7	g.75985969G>T	CA456331380	POR	c.1491G>T (p.Ser497=) c.1617G>T (p.Ser539=) c.1716G>T (p.Ser572=) c.109-91G>T (n.109-91G>T) c.930G>T (p.Ser310=) c.1867G>T c.1021G>T (n.1021G>T) n.327G>T c.1770G>T (p.Ser590=) c.1566G>T (p.Ser522=) c.1707G>T (p.Ser569=) c.1761G>T (p.Ser587=) c.1557G>T (p.Ser519=)	gnomAD v4
7	g.75985970G>A	CA367750521	POR	c.1492G>A (p.Asp498Asn) c.1618G>A (p.Asp540Asn) c.1717G>A (p.Asp573Asn) c.109-90G>A (n.109-90G>A) c.931G>A (p.Asp311Asn) c.1868G>A c.1022G>A (n.1022G>A) n.328G>A c.1771G>A (p.Asp591Asn) c.1567G>A (p.Asp523Asn) c.1708G>A (p.Asp570Asn) c.1762G>A (p.Asp588Asn) c.1558G>A (p.Asp520Asn)
7	g.75985970G>C	CA4304262	POR	c.1492G>C (p.Asp498His) c.1618G>C (p.Asp540His) c.1717G>C (p.Asp573His) c.109-90G>C (n.109-90G>C) c.931G>C (p.Asp311His) c.1868G>C c.1022G>C (n.1022G>C) n.328G>C c.1771G>C (p.Asp591His) c.1567G>C (p.Asp523His) c.1708G>C (p.Asp570His) c.1762G>C (p.Asp588His) c.1558G>C (p.Asp520His)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.75985970G=	CA1718180455	POR	c.1492G= (p.Asp498=) c.1618G= (p.Asp540=) c.1717G= (p.Asp573=) c.109-90G= (n.109-90G=) c.931G= (p.Asp311=) c.1868G= c.1022G= (n.1022G=) n.328G= c.1771G= (p.Asp591=) c.1567G= (p.Asp523=) c.1708G= (p.Asp570=) c.1762G= (p.Asp588=) c.1558G= (p.Asp520=)
7	g.75985970G>T	CA367750522	POR	c.1492G>T (p.Asp498Tyr) c.1618G>T (p.Asp540Tyr) c.1717G>T (p.Asp573Tyr) c.109-90G>T (n.109-90G>T) c.931G>T (p.Asp311Tyr) c.1868G>T c.1022G>T (n.1022G>T) n.328G>T c.1771G>T (p.Asp591Tyr) c.1567G>T (p.Asp523Tyr) c.1708G>T (p.Asp570Tyr) c.1762G>T (p.Asp588Tyr) c.1558G>T (p.Asp520Tyr)	gnomAD v4
7	g.75985971A>C	CA367750523	POR	c.1493A>C (p.Asp498Ala) c.1619A>C (p.Asp540Ala) c.1718A>C (p.Asp573Ala) c.109-89A>C (n.109-89A>C) c.932A>C (p.Asp311Ala) c.1869A>C c.1023A>C (n.1023A>C) n.329A>C c.1772A>C (p.Asp591Ala) c.1568A>C (p.Asp523Ala) c.1709A>C (p.Asp570Ala) c.1763A>C (p.Asp588Ala) c.1559A>C (p.Asp520Ala)
7	g.75985971A>G	CA367750525	POR	c.1493A>G (p.Asp498Gly) c.1619A>G (p.Asp540Gly) c.1718A>G (p.Asp573Gly) c.109-89A>G (n.109-89A>G) c.932A>G (p.Asp311Gly) c.1869A>G c.1023A>G (n.1023A>G) n.329A>G c.1772A>G (p.Asp591Gly) c.1568A>G (p.Asp523Gly) c.1709A>G (p.Asp570Gly) c.1763A>G (p.Asp588Gly) c.1559A>G (p.Asp520Gly)
7	g.75985971A>T	CA367750524	POR	c.1493A>T (p.Asp498Val) c.1619A>T (p.Asp540Val) c.1718A>T (p.Asp573Val) c.109-89A>T (n.109-89A>T) c.932A>T (p.Asp311Val) c.1869A>T c.1023A>T (n.1023A>T) n.329A>T c.1772A>T (p.Asp591Val) c.1568A>T (p.Asp523Val) c.1709A>T (p.Asp570Val) c.1763A>T (p.Asp588Val) c.1559A>T (p.Asp520Val)
7	g.75985972T>A	CA367750526	POR	c.1494T>A (p.Asp498Glu) c.1620T>A (p.Asp540Glu) c.1719T>A (p.Asp573Glu) c.109-88T>A (n.109-88T>A) c.933T>A (p.Asp311Glu) c.1870T>A c.1024T>A (n.1024T>A) n.330T>A c.1773T>A (p.Asp591Glu) c.1569T>A (p.Asp523Glu) c.1710T>A (p.Asp570Glu) c.1764T>A (p.Asp588Glu) c.1560T>A (p.Asp520Glu)	gnomAD v4
7	g.75985972T>C	CA456331381	POR	c.1494T>C (p.Asp498=) c.1620T>C (p.Asp540=) c.1719T>C (p.Asp573=) c.109-88T>C (n.109-88T>C) c.933T>C (p.Asp311=) c.1870T>C c.1024T>C (n.1024T>C) n.330T>C c.1773T>C (p.Asp591=) c.1569T>C (p.Asp523=) c.1710T>C (p.Asp570=) c.1764T>C (p.Asp588=) c.1560T>C (p.Asp520=)	COSMIC COSMIC
7	g.75985972T>G	CA367750527	POR	c.1494T>G (p.Asp498Glu) c.1620T>G (p.Asp540Glu) c.1719T>G (p.Asp573Glu) c.109-88T>G (n.109-88T>G) c.933T>G (p.Asp311Glu) c.1870T>G c.1024T>G (n.1024T>G) n.330T>G c.1773T>G (p.Asp591Glu) c.1569T>G (p.Asp523Glu) c.1710T>G (p.Asp570Glu) c.1764T>G (p.Asp588Glu) c.1560T>G (p.Asp520Glu)
7	g.75985973G>A	CA367750528	POR	c.1495G>A (p.Glu499Lys) c.1621G>A (p.Glu541Lys) c.1720G>A (p.Glu574Lys) c.109-87G>A (n.109-87G>A) c.934G>A (p.Glu312Lys) c.1871G>A c.1025G>A (n.1025G>A) n.331G>A c.1774G>A (p.Glu592Lys) c.1570G>A (p.Glu524Lys) c.1711G>A (p.Glu571Lys) c.1765G>A (p.Glu589Lys) c.1561G>A (p.Glu521Lys)	gnomAD v4
7	g.75985973G>C	CA367750529	POR	c.1495G>C (p.Glu499Gln) c.1621G>C (p.Glu541Gln) c.1720G>C (p.Glu574Gln) c.109-87G>C (n.109-87G>C) c.934G>C (p.Glu312Gln) c.1871G>C c.1025G>C (n.1025G>C) n.331G>C c.1774G>C (p.Glu592Gln) c.1570G>C (p.Glu524Gln) c.1711G>C (p.Glu571Gln) c.1765G>C (p.Glu589Gln) c.1561G>C (p.Glu521Gln)
7	g.75985973G>T	CA367750530	POR	c.1495G>T (p.Glu499Ter) c.1621G>T (p.Glu541Ter) c.1720G>T (p.Glu574Ter) c.109-87G>T (n.109-87G>T) c.934G>T (p.Glu312Ter) c.1871G>T c.1025G>T (n.1025G>T) n.331G>T c.1774G>T (p.Glu592Ter) c.1570G>T (p.Glu524Ter) c.1711G>T (p.Glu571Ter) c.1765G>T (p.Glu589Ter) c.1561G>T (p.Glu521Ter)
7	g.75985974A>C	CA367750531	POR	c.1496A>C (p.Glu499Ala) c.1622A>C (p.Glu541Ala) c.1721A>C (p.Glu574Ala) c.109-86A>C (n.109-86A>C) c.935A>C (p.Glu312Ala) c.1872A>C c.1026A>C (n.1026A>C) n.332A>C c.1775A>C (p.Glu592Ala) c.1571A>C (p.Glu524Ala) c.1712A>C (p.Glu571Ala) c.1766A>C (p.Glu589Ala) c.1562A>C (p.Glu521Ala)
7	g.75985974A>G	CA367750532	POR	c.1496A>G (p.Glu499Gly) c.1622A>G (p.Glu541Gly) c.1721A>G (p.Glu574Gly) c.109-86A>G (n.109-86A>G) c.935A>G (p.Glu312Gly) c.1872A>G c.1026A>G (n.1026A>G) n.332A>G c.1775A>G (p.Glu592Gly) c.1571A>G (p.Glu524Gly) c.1712A>G (p.Glu571Gly) c.1766A>G (p.Glu589Gly) c.1562A>G (p.Glu521Gly)	gnomAD v4
7	g.75985974A>T	CA367750533	POR	c.1496A>T (p.Glu499Val) c.1622A>T (p.Glu541Val) c.1721A>T (p.Glu574Val) c.109-86A>T (n.109-86A>T) c.935A>T (p.Glu312Val) c.1872A>T c.1026A>T (n.1026A>T) n.332A>T c.1775A>T (p.Glu592Val) c.1571A>T (p.Glu524Val) c.1712A>T (p.Glu571Val) c.1766A>T (p.Glu589Val) c.1562A>T (p.Glu521Val)	gnomAD v4
7	g.75985975G>A	CA456331386	POR	c.1497G>A (p.Glu499=) c.1623G>A (p.Glu541=) c.1722G>A (p.Glu574=) c.109-85G>A (n.109-85G>A) c.936G>A (p.Glu312=) c.1873G>A c.1027G>A (n.1027G>A) n.333G>A c.1776G>A (p.Glu592=) c.1572G>A (p.Glu524=) c.1713G>A (p.Glu571=) c.1767G>A (p.Glu589=) c.1563G>A (p.Glu521=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985975G>C	CA367750534	POR	c.1497G>C (p.Glu499Asp) c.1623G>C (p.Glu541Asp) c.1722G>C (p.Glu574Asp) c.109-85G>C (n.109-85G>C) c.936G>C (p.Glu312Asp) c.1873G>C c.1027G>C (n.1027G>C) n.333G>C c.1776G>C (p.Glu592Asp) c.1572G>C (p.Glu524Asp) c.1713G>C (p.Glu571Asp) c.1767G>C (p.Glu589Asp) c.1563G>C (p.Glu521Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
7	g.75985975G=	CA1718180456	POR	c.1497G= (p.Glu499=) c.1623G= (p.Glu541=) c.1722G= (p.Glu574=) c.109-85G= (n.109-85G=) c.936G= (p.Glu312=) c.1873G= c.1027G= (n.1027G=) n.333G= c.1776G= (p.Glu592=) c.1572G= (p.Glu524=) c.1713G= (p.Glu571=) c.1767G= (p.Glu589=) c.1563G= (p.Glu521=)
7	g.75985975G>T	CA367750535	POR	c.1497G>T (p.Glu499Asp) c.1623G>T (p.Glu541Asp) c.1722G>T (p.Glu574Asp) c.109-85G>T (n.109-85G>T) c.936G>T (p.Glu312Asp) c.1873G>T c.1027G>T (n.1027G>T) n.333G>T c.1776G>T (p.Glu592Asp) c.1572G>T (p.Glu524Asp) c.1713G>T (p.Glu571Asp) c.1767G>T (p.Glu589Asp) c.1563G>T (p.Glu521Asp)
7	g.75985976G>A	CA4304263	POR	c.1498G>A (p.Asp500Asn) c.1624G>A (p.Asp542Asn) c.1723G>A (p.Asp575Asn) c.109-84G>A (n.109-84G>A) c.937G>A (p.Asp313Asn) c.1874G>A c.1028G>A (n.1028G>A) n.334G>A c.1777G>A (p.Asp593Asn) c.1573G>A (p.Asp525Asn) c.1714G>A (p.Asp572Asn) c.1768G>A (p.Asp590Asn) c.1564G>A (p.Asp522Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985976G>C	CA367750536	POR	c.1498G>C (p.Asp500His) c.1624G>C (p.Asp542His) c.1723G>C (p.Asp575His) c.109-84G>C (n.109-84G>C) c.937G>C (p.Asp313His) c.1874G>C c.1028G>C (n.1028G>C) n.334G>C c.1777G>C (p.Asp593His) c.1573G>C (p.Asp525His) c.1714G>C (p.Asp572His) c.1768G>C (p.Asp590His) c.1564G>C (p.Asp522His)
7	g.75985976G=	CA1718180457	POR	c.1498G= (p.Asp500=) c.1624G= (p.Asp542=) c.1723G= (p.Asp575=) c.109-84G= (n.109-84G=) c.937G= (p.Asp313=) c.1874G= c.1028G= (n.1028G=) n.334G= c.1777G= (p.Asp593=) c.1573G= (p.Asp525=) c.1714G= (p.Asp572=) c.1768G= (p.Asp590=) c.1564G= (p.Asp522=)
7	g.75985976G>T	CA367750537	POR	c.1498G>T (p.Asp500Tyr) c.1624G>T (p.Asp542Tyr) c.1723G>T (p.Asp575Tyr) c.109-84G>T (n.109-84G>T) c.937G>T (p.Asp313Tyr) c.1874G>T c.1028G>T (n.1028G>T) n.334G>T c.1777G>T (p.Asp593Tyr) c.1573G>T (p.Asp525Tyr) c.1714G>T (p.Asp572Tyr) c.1768G>T (p.Asp590Tyr) c.1564G>T (p.Asp522Tyr)	gnomAD v4
7	g.75985977A>C	CA367750540	POR	c.1499A>C (p.Asp500Ala) c.1625A>C (p.Asp542Ala) c.1724A>C (p.Asp575Ala) c.109-83A>C (n.109-83A>C) c.938A>C (p.Asp313Ala) c.1875A>C c.1029A>C (n.1029A>C) n.335A>C c.1778A>C (p.Asp593Ala) c.1574A>C (p.Asp525Ala) c.1715A>C (p.Asp572Ala) c.1769A>C (p.Asp590Ala) c.1565A>C (p.Asp522Ala)
7	g.75985977A>G	CA367750538	POR	c.1499A>G (p.Asp500Gly) c.1625A>G (p.Asp542Gly) c.1724A>G (p.Asp575Gly) c.109-83A>G (n.109-83A>G) c.938A>G (p.Asp313Gly) c.1875A>G c.1029A>G (n.1029A>G) n.335A>G c.1778A>G (p.Asp593Gly) c.1574A>G (p.Asp525Gly) c.1715A>G (p.Asp572Gly) c.1769A>G (p.Asp590Gly) c.1565A>G (p.Asp522Gly)
7	g.75985977A>T	CA367750539	POR	c.1499A>T (p.Asp500Val) c.1625A>T (p.Asp542Val) c.1724A>T (p.Asp575Val) c.109-83A>T (n.109-83A>T) c.938A>T (p.Asp313Val) c.1875A>T c.1029A>T (n.1029A>T) n.335A>T c.1778A>T (p.Asp593Val) c.1574A>T (p.Asp525Val) c.1715A>T (p.Asp572Val) c.1769A>T (p.Asp590Val) c.1565A>T (p.Asp522Val)	gnomAD v4
7	g.75985978C>A	CA367750541	POR	c.1500C>A (p.Asp500Glu) c.1626C>A (p.Asp542Glu) c.1725C>A (p.Asp575Glu) c.109-82C>A (n.109-82C>A) c.939C>A (p.Asp313Glu) c.1876C>A c.1030C>A (n.1030C>A) n.336C>A c.1779C>A (p.Asp593Glu) c.1575C>A (p.Asp525Glu) c.1716C>A (p.Asp572Glu) c.1770C>A (p.Asp590Glu) c.1566C>A (p.Asp522Glu)	gnomAD v4
7	g.75985978C=	CA1718180458	POR	c.1500C= (p.Asp500=) c.1626C= (p.Asp542=) c.1725C= (p.Asp575=) c.109-82C= (n.109-82C=) c.939C= (p.Asp313=) c.1876C= c.1030C= (n.1030C=) n.336C= c.1779C= (p.Asp593=) c.1575C= (p.Asp525=) c.1716C= (p.Asp572=) c.1770C= (p.Asp590=) c.1566C= (p.Asp522=)
7	g.75985978C>G	CA367750542	POR	c.1500C>G (p.Asp500Glu) c.1626C>G (p.Asp542Glu) c.1725C>G (p.Asp575Glu) c.109-82C>G (n.109-82C>G) c.939C>G (p.Asp313Glu) c.1876C>G c.1030C>G (n.1030C>G) n.336C>G c.1779C>G (p.Asp593Glu) c.1575C>G (p.Asp525Glu) c.1716C>G (p.Asp572Glu) c.1770C>G (p.Asp590Glu) c.1566C>G (p.Asp522Glu)
7	g.75985978C>T	CA456331389	POR	c.1500C>T (p.Asp500=) c.1626C>T (p.Asp542=) c.1725C>T (p.Asp575=) c.109-82C>T (n.109-82C>T) c.939C>T (p.Asp313=) c.1876C>T c.1030C>T (n.1030C>T) n.336C>T c.1779C>T (p.Asp593=) c.1575C>T (p.Asp525=) c.1716C>T (p.Asp572=) c.1770C>T (p.Asp590=) c.1566C>T (p.Asp522=)	dbSNP gnomAD v2
7	g.75985979T>A	CA367750543	POR	c.1501T>A (p.Tyr501Asn) c.1627T>A (p.Tyr543Asn) c.1726T>A (p.Tyr576Asn) c.109-81T>A (n.109-81T>A) c.940T>A (p.Tyr314Asn) c.1877T>A c.1031T>A (n.1031T>A) n.337T>A c.1780T>A (p.Tyr594Asn) c.1576T>A (p.Tyr526Asn) c.1717T>A (p.Tyr573Asn) c.1771T>A (p.Tyr591Asn) c.1567T>A (p.Tyr523Asn)
7	g.75985979T>C	CA367750544	POR	c.1501T>C (p.Tyr501His) c.1627T>C (p.Tyr543His) c.1726T>C (p.Tyr576His) c.109-81T>C (n.109-81T>C) c.940T>C (p.Tyr314His) c.1877T>C c.1031T>C (n.1031T>C) n.337T>C c.1780T>C (p.Tyr594His) c.1576T>C (p.Tyr526His) c.1717T>C (p.Tyr573His) c.1771T>C (p.Tyr591His) c.1567T>C (p.Tyr523His)	dbSNP gnomAD v4
7	g.75985979T>G	CA367750545	POR	c.1501T>G (p.Tyr501Asp) c.1627T>G (p.Tyr543Asp) c.1726T>G (p.Tyr576Asp) c.109-81T>G (n.109-81T>G) c.940T>G (p.Tyr314Asp) c.1877T>G c.1031T>G (n.1031T>G) n.337T>G c.1780T>G (p.Tyr594Asp) c.1576T>G (p.Tyr526Asp) c.1717T>G (p.Tyr573Asp) c.1771T>G (p.Tyr591Asp) c.1567T>G (p.Tyr523Asp)
7	g.75985979T=	CA1718180459	POR	c.1501T= (p.Tyr501=) c.1627T= (p.Tyr543=) c.1726T= (p.Tyr576=) c.109-81T= (n.109-81T=) c.940T= (p.Tyr314=) c.1877T= c.1031T= (n.1031T=) n.337T= c.1780T= (p.Tyr594=) c.1576T= (p.Tyr526=) c.1717T= (p.Tyr573=) c.1771T= (p.Tyr591=) c.1567T= (p.Tyr523=)
7	g.75985979dup	CA645561167	POR	c.1501dup (p.Tyr501LeufsTer?) c.1627dup (p.Tyr543LeufsTer?) c.1726dup (p.Tyr576LeufsTer?) c.109-81dup (n.109-81dup) c.940dup (p.Tyr314LeufsTer?) c.1877dup c.1031dup (n.1031dup) n.337dup c.1780dup (p.Tyr594LeufsTer?) c.1576dup (p.Tyr526LeufsTer?) c.1717dup (p.Tyr573LeufsTer?) c.1771dup (p.Tyr591LeufsTer?) c.1567dup (p.Tyr523LeufsTer?)	COSMIC COSMIC
7	g.75985980A=	CA1718180460	POR	c.1502A= (p.Tyr501=) c.1628A= (p.Tyr543=) c.1727A= (p.Tyr576=) c.109-80A= (n.109-80A=) c.941A= (p.Tyr314=) c.1878A= c.1032A= (n.1032A=) n.338A= c.1781A= (p.Tyr594=) c.1577A= (p.Tyr526=) c.1718A= (p.Tyr573=) c.1772A= (p.Tyr591=) c.1568A= (p.Tyr523=)
7	g.75985980A>C	CA367750546	POR	c.1502A>C (p.Tyr501Ser) c.1628A>C (p.Tyr543Ser) c.1727A>C (p.Tyr576Ser) c.109-80A>C (n.109-80A>C) c.941A>C (p.Tyr314Ser) c.1878A>C c.1032A>C (n.1032A>C) n.338A>C c.1781A>C (p.Tyr594Ser) c.1577A>C (p.Tyr526Ser) c.1718A>C (p.Tyr573Ser) c.1772A>C (p.Tyr591Ser) c.1568A>C (p.Tyr523Ser)
7	g.75985980A>G	CA367750547	POR	c.1502A>G (p.Tyr501Cys) c.1628A>G (p.Tyr543Cys) c.1727A>G (p.Tyr576Cys) c.109-80A>G (n.109-80A>G) c.941A>G (p.Tyr314Cys) c.1878A>G c.1032A>G (n.1032A>G) n.338A>G c.1781A>G (p.Tyr594Cys) c.1577A>G (p.Tyr526Cys) c.1718A>G (p.Tyr573Cys) c.1772A>G (p.Tyr591Cys) c.1568A>G (p.Tyr523Cys)	dbSNP gnomAD v4
7	g.75985980A>T	CA367750548	POR	c.1502A>T (p.Tyr501Phe) c.1628A>T (p.Tyr543Phe) c.1727A>T (p.Tyr576Phe) c.109-80A>T (n.109-80A>T) c.941A>T (p.Tyr314Phe) c.1878A>T c.1032A>T (n.1032A>T) n.338A>T c.1781A>T (p.Tyr594Phe) c.1577A>T (p.Tyr526Phe) c.1718A>T (p.Tyr573Phe) c.1772A>T (p.Tyr591Phe) c.1568A>T (p.Tyr523Phe)
7	g.75985980dup	CA575786102	POR	c.1502dup (p.Tyr501Ter) c.1628dup (p.Tyr543Ter) c.1727dup (p.Tyr576Ter) c.109-80dup (n.109-80dup) c.941dup (p.Tyr314Ter) c.1878dup c.1032dup (n.1032dup) n.338dup c.1781dup (p.Tyr594Ter) c.1577dup (p.Tyr526Ter) c.1718dup (p.Tyr573Ter) c.1772dup (p.Tyr591Ter) c.1568dup (p.Tyr523Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985981C>A	CA367750549	POR	c.1503C>A (p.Tyr501Ter) c.1629C>A (p.Tyr543Ter) c.1728C>A (p.Tyr576Ter) c.109-79C>A (n.109-79C>A) c.942C>A (p.Tyr314Ter) c.1879C>A c.1033C>A (n.1033C>A) n.339C>A c.1782C>A (p.Tyr594Ter) c.1578C>A (p.Tyr526Ter) c.1719C>A (p.Tyr573Ter) c.1773C>A (p.Tyr591Ter) c.1569C>A (p.Tyr523Ter)	gnomAD v4
7	g.75985981C>G	CA367750550	POR	c.1503C>G (p.Tyr501Ter) c.1629C>G (p.Tyr543Ter) c.1728C>G (p.Tyr576Ter) c.109-79C>G (n.109-79C>G) c.942C>G (p.Tyr314Ter) c.1879C>G c.1033C>G (n.1033C>G) n.339C>G c.1782C>G (p.Tyr594Ter) c.1578C>G (p.Tyr526Ter) c.1719C>G (p.Tyr573Ter) c.1773C>G (p.Tyr591Ter) c.1569C>G (p.Tyr523Ter)
7	g.75985981C>T	CA456331392	POR	c.1503C>T (p.Tyr501=) c.1629C>T (p.Tyr543=) c.1728C>T (p.Tyr576=) c.109-79C>T (n.109-79C>T) c.942C>T (p.Tyr314=) c.1879C>T c.1033C>T (n.1033C>T) n.339C>T c.1782C>T (p.Tyr594=) c.1578C>T (p.Tyr526=) c.1719C>T (p.Tyr573=) c.1773C>T (p.Tyr591=) c.1569C>T (p.Tyr523=)	gnomAD v4
7	g.75985982C>A	CA367750551	POR	c.1504C>A (p.Leu502Met) c.1630C>A (p.Leu544Met) c.1729C>A (p.Leu577Met) c.109-78C>A (n.109-78C>A) c.943C>A (p.Leu315Met) c.1880C>A c.1034C>A (n.1034C>A) n.340C>A c.1783C>A (p.Leu595Met) c.1579C>A (p.Leu527Met) c.1720C>A (p.Leu574Met) c.1774C>A (p.Leu592Met) c.1570C>A (p.Leu524Met)	gnomAD v4
7	g.75985982C>G	CA367750552	POR	c.1504C>G (p.Leu502Val) c.1630C>G (p.Leu544Val) c.1729C>G (p.Leu577Val) c.109-78C>G (n.109-78C>G) c.943C>G (p.Leu315Val) c.1880C>G c.1034C>G (n.1034C>G) n.340C>G c.1783C>G (p.Leu595Val) c.1579C>G (p.Leu527Val) c.1720C>G (p.Leu574Val) c.1774C>G (p.Leu592Val) c.1570C>G (p.Leu524Val)
7	g.75985982C>T	CA456331393	POR	c.1504C>T (p.Leu502=) c.1630C>T (p.Leu544=) c.1729C>T (p.Leu577=) c.109-78C>T (n.109-78C>T) c.943C>T (p.Leu315=) c.1880C>T c.1034C>T (n.1034C>T) n.340C>T c.1783C>T (p.Leu595=) c.1579C>T (p.Leu527=) c.1720C>T (p.Leu574=) c.1774C>T (p.Leu592=) c.1570C>T (p.Leu524=)	gnomAD v4
7	g.75985983T>A	CA367750553	POR	c.1505T>A (p.Leu502Gln) c.1631T>A (p.Leu544Gln) c.1730T>A (p.Leu577Gln) c.109-77T>A (n.109-77T>A) c.944T>A (p.Leu315Gln) c.1881T>A c.1035T>A (n.1035T>A) n.341T>A c.1784T>A (p.Leu595Gln) c.1580T>A (p.Leu527Gln) c.1721T>A (p.Leu574Gln) c.1775T>A (p.Leu592Gln) c.1571T>A (p.Leu524Gln)
7	g.75985983T>C	CA4304264	POR	c.1505T>C (p.Leu502Pro) c.1631T>C (p.Leu544Pro) c.1730T>C (p.Leu577Pro) c.109-77T>C (n.109-77T>C) c.944T>C (p.Leu315Pro) c.1881T>C c.1035T>C (n.1035T>C) n.341T>C c.1784T>C (p.Leu595Pro) c.1580T>C (p.Leu527Pro) c.1721T>C (p.Leu574Pro) c.1775T>C (p.Leu592Pro) c.1571T>C (p.Leu524Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985983T>G	CA367750554	POR	c.1505T>G (p.Leu502Arg) c.1631T>G (p.Leu544Arg) c.1730T>G (p.Leu577Arg) c.109-77T>G (n.109-77T>G) c.944T>G (p.Leu315Arg) c.1881T>G c.1035T>G (n.1035T>G) n.341T>G c.1784T>G (p.Leu595Arg) c.1580T>G (p.Leu527Arg) c.1721T>G (p.Leu574Arg) c.1775T>G (p.Leu592Arg) c.1571T>G (p.Leu524Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985983T=	CA1718180461	POR	c.1505T= (p.Leu502=) c.1631T= (p.Leu544=) c.1730T= (p.Leu577=) c.109-77T= (n.109-77T=) c.944T= (p.Leu315=) c.1881T= c.1035T= (n.1035T=) n.341T= c.1784T= (p.Leu595=) c.1580T= (p.Leu527=) c.1721T= (p.Leu574=) c.1775T= (p.Leu592=) c.1571T= (p.Leu524=)
7	g.75985984G>A	CA456331394	POR	c.1506G>A (p.Leu502=) c.1632G>A (p.Leu544=) c.1731G>A (p.Leu577=) c.109-76G>A (n.109-76G>A) c.945G>A (p.Leu315=) c.1882G>A c.1036G>A (n.1036G>A) n.342G>A c.1785G>A (p.Leu595=) c.1581G>A (p.Leu527=) c.1722G>A (p.Leu574=) c.1776G>A (p.Leu592=) c.1572G>A (p.Leu524=)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.75985984G>C	CA456331395	POR	c.1506G>C (p.Leu502=) c.1632G>C (p.Leu544=) c.1731G>C (p.Leu577=) c.109-76G>C (n.109-76G>C) c.945G>C (p.Leu315=) c.1882G>C c.1036G>C (n.1036G>C) n.342G>C c.1785G>C (p.Leu595=) c.1581G>C (p.Leu527=) c.1722G>C (p.Leu574=) c.1776G>C (p.Leu592=) c.1572G>C (p.Leu524=)	gnomAD v4
7	g.75985984G=	CA1718180462	POR	c.1506G= (p.Leu502=) c.1632G= (p.Leu544=) c.1731G= (p.Leu577=) c.109-76G= (n.109-76G=) c.945G= (p.Leu315=) c.1882G= c.1036G= (n.1036G=) n.342G= c.1785G= (p.Leu595=) c.1581G= (p.Leu527=) c.1722G= (p.Leu574=) c.1776G= (p.Leu592=) c.1572G= (p.Leu524=)
7	g.75985984G>T	CA456331396	POR	c.1506G>T (p.Leu502=) c.1632G>T (p.Leu544=) c.1731G>T (p.Leu577=) c.109-76G>T (n.109-76G>T) c.945G>T (p.Leu315=) c.1882G>T c.1036G>T (n.1036G>T) n.342G>T c.1785G>T (p.Leu595=) c.1581G>T (p.Leu527=) c.1722G>T (p.Leu574=) c.1776G>T (p.Leu592=) c.1572G>T (p.Leu524=)	gnomAD v4
7	g.75985985T>A	CA367750555	POR	c.1507T>A (p.Tyr503Asn) c.1633T>A (p.Tyr545Asn) c.1732T>A (p.Tyr578Asn) c.109-75T>A (n.109-75T>A) c.946T>A (p.Tyr316Asn) c.1883T>A c.1037T>A (n.1037T>A) n.343T>A c.1786T>A (p.Tyr596Asn) c.1582T>A (p.Tyr528Asn) c.1723T>A (p.Tyr575Asn) c.1777T>A (p.Tyr593Asn) c.1573T>A (p.Tyr525Asn)
7	g.75985985T>C	CA367750557	POR	c.1507T>C (p.Tyr503His) c.1633T>C (p.Tyr545His) c.1732T>C (p.Tyr578His) c.109-75T>C (n.109-75T>C) c.946T>C (p.Tyr316His) c.1883T>C c.1037T>C (n.1037T>C) n.343T>C c.1786T>C (p.Tyr596His) c.1582T>C (p.Tyr528His) c.1723T>C (p.Tyr575His) c.1777T>C (p.Tyr593His) c.1573T>C (p.Tyr525His)	dbSNP gnomAD v4
7	g.75985985T>G	CA367750556	POR	c.1507T>G (p.Tyr503Asp) c.1633T>G (p.Tyr545Asp) c.1732T>G (p.Tyr578Asp) c.109-75T>G (n.109-75T>G) c.946T>G (p.Tyr316Asp) c.1883T>G c.1037T>G (n.1037T>G) n.343T>G c.1786T>G (p.Tyr596Asp) c.1582T>G (p.Tyr528Asp) c.1723T>G (p.Tyr575Asp) c.1777T>G (p.Tyr593Asp) c.1573T>G (p.Tyr525Asp)
7	g.75985985T=	CA1718180463	POR	c.1507T= (p.Tyr503=) c.1633T= (p.Tyr545=) c.1732T= (p.Tyr578=) c.109-75T= (n.109-75T=) c.946T= (p.Tyr316=) c.1883T= c.1037T= (n.1037T=) n.343T= c.1786T= (p.Tyr596=) c.1582T= (p.Tyr528=) c.1723T= (p.Tyr575=) c.1777T= (p.Tyr593=) c.1573T= (p.Tyr525=)
7	g.75985986A=	CA1718180464	POR	c.1508A= (p.Tyr503=) c.1634A= (p.Tyr545=) c.1733A= (p.Tyr578=) c.109-74A= (n.109-74A=) c.947A= (p.Tyr316=) c.1884A= c.1038A= (n.1038A=) n.344A= c.1787A= (p.Tyr596=) c.1583A= (p.Tyr528=) c.1724A= (p.Tyr575=) c.1778A= (p.Tyr593=) c.1574A= (p.Tyr525=)
7	g.75985986A>C	CA367750558	POR	c.1508A>C (p.Tyr503Ser) c.1634A>C (p.Tyr545Ser) c.1733A>C (p.Tyr578Ser) c.109-74A>C (n.109-74A>C) c.947A>C (p.Tyr316Ser) c.1884A>C c.1038A>C (n.1038A>C) n.344A>C c.1787A>C (p.Tyr596Ser) c.1583A>C (p.Tyr528Ser) c.1724A>C (p.Tyr575Ser) c.1778A>C (p.Tyr593Ser) c.1574A>C (p.Tyr525Ser)
7	g.75985986A>G	CA257665	POR	c.1508A>G (p.Tyr503Cys) c.1634A>G (p.Tyr545Cys) c.1733A>G (p.Tyr578Cys) c.109-74A>G (n.109-74A>G) c.947A>G (p.Tyr316Cys) c.1884A>G c.1038A>G (n.1038A>G) n.344A>G c.1787A>G (p.Tyr596Cys) c.1583A>G (p.Tyr528Cys) c.1724A>G (p.Tyr575Cys) c.1778A>G (p.Tyr593Cys) c.1574A>G (p.Tyr525Cys)	ClinVar dbSNP
7	g.75985986A>T	CA367750559	POR	c.1508A>T (p.Tyr503Phe) c.1634A>T (p.Tyr545Phe) c.1733A>T (p.Tyr578Phe) c.109-74A>T (n.109-74A>T) c.947A>T (p.Tyr316Phe) c.1884A>T c.1038A>T (n.1038A>T) n.344A>T c.1787A>T (p.Tyr596Phe) c.1583A>T (p.Tyr528Phe) c.1724A>T (p.Tyr575Phe) c.1778A>T (p.Tyr593Phe) c.1574A>T (p.Tyr525Phe)	gnomAD v4
7	g.75985987C>A	CA367750560	POR	c.1509C>A (p.Tyr503Ter) c.1635C>A (p.Tyr545Ter) c.1734C>A (p.Tyr578Ter) c.109-73C>A (n.109-73C>A) c.948C>A (p.Tyr316Ter) c.1885C>A c.1039C>A (n.1039C>A) n.345C>A c.1788C>A (p.Tyr596Ter) c.1584C>A (p.Tyr528Ter) c.1725C>A (p.Tyr575Ter) c.1779C>A (p.Tyr593Ter) c.1575C>A (p.Tyr525Ter)	gnomAD v4
7	g.75985987C=	CA1718180465	POR	c.1509C= (p.Tyr503=) c.1635C= (p.Tyr545=) c.1734C= (p.Tyr578=) c.109-73C= (n.109-73C=) c.948C= (p.Tyr316=) c.1885C= c.1039C= (n.1039C=) n.345C= c.1788C= (p.Tyr596=) c.1584C= (p.Tyr528=) c.1725C= (p.Tyr575=) c.1779C= (p.Tyr593=) c.1575C= (p.Tyr525=)
7	g.75985987C>G	CA367750561	POR	c.1509C>G (p.Tyr503Ter) c.1635C>G (p.Tyr545Ter) c.1734C>G (p.Tyr578Ter) c.109-73C>G (n.109-73C>G) c.948C>G (p.Tyr316Ter) c.1885C>G c.1039C>G (n.1039C>G) n.345C>G c.1788C>G (p.Tyr596Ter) c.1584C>G (p.Tyr528Ter) c.1725C>G (p.Tyr575Ter) c.1779C>G (p.Tyr593Ter) c.1575C>G (p.Tyr525Ter)
7	g.75985987C>T	CA456331398	POR	c.1509C>T (p.Tyr503=) c.1635C>T (p.Tyr545=) c.1734C>T (p.Tyr578=) c.109-73C>T (n.109-73C>T) c.948C>T (p.Tyr316=) c.1885C>T c.1039C>T (n.1039C>T) n.345C>T c.1788C>T (p.Tyr596=) c.1584C>T (p.Tyr528=) c.1725C>T (p.Tyr575=) c.1779C>T (p.Tyr593=) c.1575C>T (p.Tyr525=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985988C>A	CA456331399	POR	c.1510C>A (p.Arg504=) c.1636C>A (p.Arg546=) c.1735C>A (p.Arg579=) c.109-72C>A (n.109-72C>A) c.949C>A (p.Arg317=) c.1886C>A c.1040C>A (n.1040C>A) n.346C>A c.1789C>A (p.Arg597=) c.1585C>A (p.Arg529=) c.1726C>A (p.Arg576=) c.1780C>A (p.Arg594=) c.1576C>A (p.Arg526=)	gnomAD v4
7	g.75985988C=	CA1718180466	POR	c.1510C= (p.Arg504=) c.1636C= (p.Arg546=) c.1735C= (p.Arg579=) c.109-72C= (n.109-72C=) c.949C= (p.Arg317=) c.1886C= c.1040C= (n.1040C=) n.346C= c.1789C= (p.Arg597=) c.1585C= (p.Arg529=) c.1726C= (p.Arg576=) c.1780C= (p.Arg594=) c.1576C= (p.Arg526=)
7	g.75985988C>G	CA367750562	POR	c.1510C>G (p.Arg504Gly) c.1636C>G (p.Arg546Gly) c.1735C>G (p.Arg579Gly) c.109-72C>G (n.109-72C>G) c.949C>G (p.Arg317Gly) c.1886C>G c.1040C>G (n.1040C>G) n.346C>G c.1789C>G (p.Arg597Gly) c.1585C>G (p.Arg529Gly) c.1726C>G (p.Arg576Gly) c.1780C>G (p.Arg594Gly) c.1576C>G (p.Arg526Gly)
7	g.75985988C>T	CA367750563	POR	c.1510C>T (p.Arg504Trp) c.1636C>T (p.Arg546Trp) c.1735C>T (p.Arg579Trp) c.109-72C>T (n.109-72C>T) c.949C>T (p.Arg317Trp) c.1886C>T c.1040C>T (n.1040C>T) n.346C>T c.1789C>T (p.Arg597Trp) c.1585C>T (p.Arg529Trp) c.1726C>T (p.Arg576Trp) c.1780C>T (p.Arg594Trp) c.1576C>T (p.Arg526Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985989G>A	CA4304265	POR	c.1511G>A (p.Arg504Gln) c.1637G>A (p.Arg546Gln) c.1736G>A (p.Arg579Gln) c.109-71G>A (n.109-71G>A) c.950G>A (p.Arg317Gln) c.1887G>A c.1041G>A (n.1041G>A) n.347G>A c.1790G>A (p.Arg597Gln) c.1586G>A (p.Arg529Gln) c.1727G>A (p.Arg576Gln) c.1781G>A (p.Arg594Gln) c.1577G>A (p.Arg526Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985989G>C	CA4304266	POR	c.1511G>C (p.Arg504Pro) c.1637G>C (p.Arg546Pro) c.1736G>C (p.Arg579Pro) c.109-71G>C (n.109-71G>C) c.950G>C (p.Arg317Pro) c.1887G>C c.1041G>C (n.1041G>C) n.347G>C c.1790G>C (p.Arg597Pro) c.1586G>C (p.Arg529Pro) c.1727G>C (p.Arg576Pro) c.1781G>C (p.Arg594Pro) c.1577G>C (p.Arg526Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985989G=	CA1718180467	POR	c.1511G= (p.Arg504=) c.1637G= (p.Arg546=) c.1736G= (p.Arg579=) c.109-71G= (n.109-71G=) c.950G= (p.Arg317=) c.1887G= c.1041G= (n.1041G=) n.347G= c.1790G= (p.Arg597=) c.1586G= (p.Arg529=) c.1727G= (p.Arg576=) c.1781G= (p.Arg594=) c.1577G= (p.Arg526=)
7	g.75985989G>T	CA367750564	POR	c.1511G>T (p.Arg504Leu) c.1637G>T (p.Arg546Leu) c.1736G>T (p.Arg579Leu) c.109-71G>T (n.109-71G>T) c.950G>T (p.Arg317Leu) c.1887G>T c.1041G>T (n.1041G>T) n.347G>T c.1790G>T (p.Arg597Leu) c.1586G>T (p.Arg529Leu) c.1727G>T (p.Arg576Leu) c.1781G>T (p.Arg594Leu) c.1577G>T (p.Arg526Leu)	dbSNP gnomAD v2 gnomAD v4
7	g.75985990G>A	CA456331400	POR	c.1512G>A (p.Arg504=) c.1638G>A (p.Arg546=) c.1737G>A (p.Arg579=) c.109-70G>A (n.109-70G>A) c.951G>A (p.Arg317=) c.1888G>A c.1042G>A (n.1042G>A) n.348G>A c.1791G>A (p.Arg597=) c.1587G>A (p.Arg529=) c.1728G>A (p.Arg576=) c.1782G>A (p.Arg594=) c.1578G>A (p.Arg526=)	gnomAD v4
7	g.75985990G>C	CA456331401	POR	c.1512G>C (p.Arg504=) c.1638G>C (p.Arg546=) c.1737G>C (p.Arg579=) c.109-70G>C (n.109-70G>C) c.951G>C (p.Arg317=) c.1888G>C c.1042G>C (n.1042G>C) n.348G>C c.1791G>C (p.Arg597=) c.1587G>C (p.Arg529=) c.1728G>C (p.Arg576=) c.1782G>C (p.Arg594=) c.1578G>C (p.Arg526=)
7	g.75985990G>T	CA456331403	POR	c.1512G>T (p.Arg504=) c.1638G>T (p.Arg546=) c.1737G>T (p.Arg579=) c.109-70G>T (n.109-70G>T) c.951G>T (p.Arg317=) c.1888G>T c.1042G>T (n.1042G>T) n.348G>T c.1791G>T (p.Arg597=) c.1587G>T (p.Arg529=) c.1728G>T (p.Arg576=) c.1782G>T (p.Arg594=) c.1578G>T (p.Arg526=)	gnomAD v4
7	g.75985991G>A	CA367750565	POR	c.1513G>A (p.Glu505Lys) c.1639G>A (p.Glu547Lys) c.1738G>A (p.Glu580Lys) c.109-69G>A (n.109-69G>A) c.952G>A (p.Glu318Lys) c.1889G>A c.1043G>A (n.1043G>A) n.349G>A c.1792G>A (p.Glu598Lys) c.1588G>A (p.Glu530Lys) c.1729G>A (p.Glu577Lys) c.1783G>A (p.Glu595Lys) c.1579G>A (p.Glu527Lys)
7	g.75985991G>C	CA4304267	POR	c.1513G>C (p.Glu505Gln) c.1639G>C (p.Glu547Gln) c.1738G>C (p.Glu580Gln) c.109-69G>C (n.109-69G>C) c.952G>C (p.Glu318Gln) c.1889G>C c.1043G>C (n.1043G>C) n.349G>C c.1792G>C (p.Glu598Gln) c.1588G>C (p.Glu530Gln) c.1729G>C (p.Glu577Gln) c.1783G>C (p.Glu595Gln) c.1579G>C (p.Glu527Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75985991G=	CA1718180468	POR	c.1513G= (p.Glu505=) c.1639G= (p.Glu547=) c.1738G= (p.Glu580=) c.109-69G= (n.109-69G=) c.952G= (p.Glu318=) c.1889G= c.1043G= (n.1043G=) n.349G= c.1792G= (p.Glu598=) c.1588G= (p.Glu530=) c.1729G= (p.Glu577=) c.1783G= (p.Glu595=) c.1579G= (p.Glu527=)
7	g.75985991G>T	CA367750566	POR	c.1513G>T (p.Glu505Ter) c.1639G>T (p.Glu547Ter) c.1738G>T (p.Glu580Ter) c.109-69G>T (n.109-69G>T) c.952G>T (p.Glu318Ter) c.1889G>T c.1043G>T (n.1043G>T) n.349G>T c.1792G>T (p.Glu598Ter) c.1588G>T (p.Glu530Ter) c.1729G>T (p.Glu577Ter) c.1783G>T (p.Glu595Ter) c.1579G>T (p.Glu527Ter)	gnomAD v4
7	g.75985992A>C	CA367750567	POR	c.1514A>C (p.Glu505Ala) c.1640A>C (p.Glu547Ala) c.1739A>C (p.Glu580Ala) c.109-68A>C (n.109-68A>C) c.953A>C (p.Glu318Ala) c.1890A>C c.1044A>C (n.1044A>C) n.350A>C c.1793A>C (p.Glu598Ala) c.1589A>C (p.Glu530Ala) c.1730A>C (p.Glu577Ala) c.1784A>C (p.Glu595Ala) c.1580A>C (p.Glu527Ala)
7	g.75985992A>G	CA367750569	POR	c.1514A>G (p.Glu505Gly) c.1640A>G (p.Glu547Gly) c.1739A>G (p.Glu580Gly) c.109-68A>G (n.109-68A>G) c.953A>G (p.Glu318Gly) c.1890A>G c.1044A>G (n.1044A>G) n.350A>G c.1793A>G (p.Glu598Gly) c.1589A>G (p.Glu530Gly) c.1730A>G (p.Glu577Gly) c.1784A>G (p.Glu595Gly) c.1580A>G (p.Glu527Gly)	gnomAD v4
7	g.75985992A>T	CA367750568	POR	c.1514A>T (p.Glu505Val) c.1640A>T (p.Glu547Val) c.1739A>T (p.Glu580Val) c.109-68A>T (n.109-68A>T) c.953A>T (p.Glu318Val) c.1890A>T c.1044A>T (n.1044A>T) n.350A>T c.1793A>T (p.Glu598Val) c.1589A>T (p.Glu530Val) c.1730A>T (p.Glu577Val) c.1784A>T (p.Glu595Val) c.1580A>T (p.Glu527Val)	gnomAD v3 gnomAD v4
7	g.75985993G>A	CA456331407	POR	c.1515G>A (p.Glu505=) c.1641G>A (p.Glu547=) c.1740G>A (p.Glu580=) c.109-67G>A (n.109-67G>A) c.954G>A (p.Glu318=) c.1891G>A c.1045G>A (n.1045G>A) n.351G>A c.1794G>A (p.Glu598=) c.1590G>A (p.Glu530=) c.1731G>A (p.Glu577=) c.1785G>A (p.Glu595=) c.1581G>A (p.Glu527=)	ClinVar
7	g.75985993G>C	CA367750570	POR	c.1515G>C (p.Glu505Asp) c.1641G>C (p.Glu547Asp) c.1740G>C (p.Glu580Asp) c.109-67G>C (n.109-67G>C) c.954G>C (p.Glu318Asp) c.1891G>C c.1045G>C (n.1045G>C) n.351G>C c.1794G>C (p.Glu598Asp) c.1590G>C (p.Glu530Asp) c.1731G>C (p.Glu577Asp) c.1785G>C (p.Glu595Asp) c.1581G>C (p.Glu527Asp)
7	g.75985993G>T	CA367750571	POR	c.1515G>T (p.Glu505Asp) c.1641G>T (p.Glu547Asp) c.1740G>T (p.Glu580Asp) c.109-67G>T (n.109-67G>T) c.954G>T (p.Glu318Asp) c.1891G>T c.1045G>T (n.1045G>T) n.351G>T c.1794G>T (p.Glu598Asp) c.1590G>T (p.Glu530Asp) c.1731G>T (p.Glu577Asp) c.1785G>T (p.Glu595Asp) c.1581G>T (p.Glu527Asp)	gnomAD v4
7	g.75985994G>A	CA367750572	POR	c.1516G>A (p.Glu506Lys) c.1642G>A (p.Glu548Lys) c.1741G>A (p.Glu581Lys) c.109-66G>A (n.109-66G>A) c.955G>A (p.Glu319Lys) c.1892G>A c.1046G>A (n.1046G>A) n.352G>A c.1795G>A (p.Glu599Lys) c.1591G>A (p.Glu531Lys) c.1732G>A (p.Glu578Lys) c.1786G>A (p.Glu596Lys) c.1582G>A (p.Glu528Lys)
7	g.75985994G>C	CA367750573	POR	c.1516G>C (p.Glu506Gln) c.1642G>C (p.Glu548Gln) c.1741G>C (p.Glu581Gln) c.109-66G>C (n.109-66G>C) c.955G>C (p.Glu319Gln) c.1892G>C c.1046G>C (n.1046G>C) n.352G>C c.1795G>C (p.Glu599Gln) c.1591G>C (p.Glu531Gln) c.1732G>C (p.Glu578Gln) c.1786G>C (p.Glu596Gln) c.1582G>C (p.Glu528Gln)
7	g.75985994G>T	CA367750574	POR	c.1516G>T (p.Glu506Ter) c.1642G>T (p.Glu548Ter) c.1741G>T (p.Glu581Ter) c.109-66G>T (n.109-66G>T) c.955G>T (p.Glu319Ter) c.1892G>T c.1046G>T (n.1046G>T) n.352G>T c.1795G>T (p.Glu599Ter) c.1591G>T (p.Glu531Ter) c.1732G>T (p.Glu578Ter) c.1786G>T (p.Glu596Ter) c.1582G>T (p.Glu528Ter)
7	g.75985995A>C	CA367750575	POR	c.1517A>C (p.Glu506Ala) c.1643A>C (p.Glu548Ala) c.1742A>C (p.Glu581Ala) c.109-65A>C (n.109-65A>C) c.956A>C (p.Glu319Ala) c.1893A>C c.1047A>C (n.1047A>C) n.353A>C c.1796A>C (p.Glu599Ala) c.1592A>C (p.Glu531Ala) c.1733A>C (p.Glu578Ala) c.1787A>C (p.Glu596Ala) c.1583A>C (p.Glu528Ala)
7	g.75985995A>G	CA367750576	POR	c.1517A>G (p.Glu506Gly) c.1643A>G (p.Glu548Gly) c.1742A>G (p.Glu581Gly) c.109-65A>G (n.109-65A>G) c.956A>G (p.Glu319Gly) c.1893A>G c.1047A>G (n.1047A>G) n.353A>G c.1796A>G (p.Glu599Gly) c.1592A>G (p.Glu531Gly) c.1733A>G (p.Glu578Gly) c.1787A>G (p.Glu596Gly) c.1583A>G (p.Glu528Gly)	gnomAD v3 gnomAD v4
7	g.75985995A>T	CA367750577	POR	c.1517A>T (p.Glu506Val) c.1643A>T (p.Glu548Val) c.1742A>T (p.Glu581Val) c.109-65A>T (n.109-65A>T) c.956A>T (p.Glu319Val) c.1893A>T c.1047A>T (n.1047A>T) n.353A>T c.1796A>T (p.Glu599Val) c.1592A>T (p.Glu531Val) c.1733A>T (p.Glu578Val) c.1787A>T (p.Glu596Val) c.1583A>T (p.Glu528Val)
7	g.75985996G>A	CA456331412	POR	c.1518G>A (p.Glu506=) c.1644G>A (p.Glu548=) c.1743G>A (p.Glu581=) c.109-64G>A (n.109-64G>A) c.957G>A (p.Glu319=) c.1894G>A c.1048G>A (n.1048G>A) n.354G>A c.1797G>A (p.Glu599=) c.1593G>A (p.Glu531=) c.1734G>A (p.Glu578=) c.1788G>A (p.Glu596=) c.1584G>A (p.Glu528=)
7	g.75985996G>C	CA367750578	POR	c.1518G>C (p.Glu506Asp) c.1644G>C (p.Glu548Asp) c.1743G>C (p.Glu581Asp) c.109-64G>C (n.109-64G>C) c.957G>C (p.Glu319Asp) c.1894G>C c.1048G>C (n.1048G>C) n.354G>C c.1797G>C (p.Glu599Asp) c.1593G>C (p.Glu531Asp) c.1734G>C (p.Glu578Asp) c.1788G>C (p.Glu596Asp) c.1584G>C (p.Glu528Asp)
7	g.75985996G=	CA1718180469	POR	c.1518G= (p.Glu506=) c.1644G= (p.Glu548=) c.1743G= (p.Glu581=) c.109-64G= (n.109-64G=) c.957G= (p.Glu319=) c.1894G= c.1048G= (n.1048G=) n.354G= c.1797G= (p.Glu599=) c.1593G= (p.Glu531=) c.1734G= (p.Glu578=) c.1788G= (p.Glu596=) c.1584G= (p.Glu528=)
7	g.75985996G>T	CA367750579	POR	c.1518G>T (p.Glu506Asp) c.1644G>T (p.Glu548Asp) c.1743G>T (p.Glu581Asp) c.109-64G>T (n.109-64G>T) c.957G>T (p.Glu319Asp) c.1894G>T c.1048G>T (n.1048G>T) n.354G>T c.1797G>T (p.Glu599Asp) c.1593G>T (p.Glu531Asp) c.1734G>T (p.Glu578Asp) c.1788G>T (p.Glu596Asp) c.1584G>T (p.Glu528Asp)	dbSNP gnomAD v4
7	g.75985997C>A	CA367750581	POR	c.1519C>A (p.Leu507Met) c.1645C>A (p.Leu549Met) c.1744C>A (p.Leu582Met) c.109-63C>A (n.109-63C>A) c.958C>A (p.Leu320Met) c.1895C>A c.1049C>A (n.1049C>A) n.355C>A c.1798C>A (p.Leu600Met) c.1594C>A (p.Leu532Met) c.1735C>A (p.Leu579Met) c.1789C>A (p.Leu597Met) c.1585C>A (p.Leu529Met)	gnomAD v4
7	g.75985997C>G	CA367750580	POR	c.1519C>G (p.Leu507Val) c.1645C>G (p.Leu549Val) c.1744C>G (p.Leu582Val) c.109-63C>G (n.109-63C>G) c.958C>G (p.Leu320Val) c.1895C>G c.1049C>G (n.1049C>G) n.355C>G c.1798C>G (p.Leu600Val) c.1594C>G (p.Leu532Val) c.1735C>G (p.Leu579Val) c.1789C>G (p.Leu597Val) c.1585C>G (p.Leu529Val)
7	g.75985997C>T	CA456331416	POR	c.1519C>T (p.Leu507=) c.1645C>T (p.Leu549=) c.1744C>T (p.Leu582=) c.109-63C>T (n.109-63C>T) c.958C>T (p.Leu320=) c.1895C>T c.1049C>T (n.1049C>T) n.355C>T c.1798C>T (p.Leu600=) c.1594C>T (p.Leu532=) c.1735C>T (p.Leu579=) c.1789C>T (p.Leu597=) c.1585C>T (p.Leu529=)
7	g.75985998T>A	CA367750582	POR	c.1520T>A (p.Leu507Gln) c.1646T>A (p.Leu549Gln) c.1745T>A (p.Leu582Gln) c.109-62T>A (n.109-62T>A) c.959T>A (p.Leu320Gln) c.1896T>A c.1050T>A (n.1050T>A) n.356T>A c.1799T>A (p.Leu600Gln) c.1595T>A (p.Leu532Gln) c.1736T>A (p.Leu579Gln) c.1790T>A (p.Leu597Gln) c.1586T>A (p.Leu529Gln)
7	g.75985998T>C	CA367750583	POR	c.1520T>C (p.Leu507Pro) c.1646T>C (p.Leu549Pro) c.1745T>C (p.Leu582Pro) c.109-62T>C (n.109-62T>C) c.959T>C (p.Leu320Pro) c.1896T>C c.1050T>C (n.1050T>C) n.356T>C c.1799T>C (p.Leu600Pro) c.1595T>C (p.Leu532Pro) c.1736T>C (p.Leu579Pro) c.1790T>C (p.Leu597Pro) c.1586T>C (p.Leu529Pro)
7	g.75985998T>G	CA367750584	POR	c.1520T>G (p.Leu507Arg) c.1646T>G (p.Leu549Arg) c.1745T>G (p.Leu582Arg) c.109-62T>G (n.109-62T>G) c.959T>G (p.Leu320Arg) c.1896T>G c.1050T>G (n.1050T>G) n.356T>G c.1799T>G (p.Leu600Arg) c.1595T>G (p.Leu532Arg) c.1736T>G (p.Leu579Arg) c.1790T>G (p.Leu597Arg) c.1586T>G (p.Leu529Arg)
7	g.75985999G>A	CA456331423	POR	c.1521G>A (p.Leu507=) c.1647G>A (p.Leu549=) c.1746G>A (p.Leu582=) c.109-61G>A (n.109-61G>A) c.960G>A (p.Leu320=) c.1897G>A c.1051G>A (n.1051G>A) n.357G>A c.1800G>A (p.Leu600=) c.1596G>A (p.Leu532=) c.1737G>A (p.Leu579=) c.1791G>A (p.Leu597=) c.1587G>A (p.Leu529=)	gnomAD v4
7	g.75985999G>C	CA456331424	POR	c.1521G>C (p.Leu507=) c.1647G>C (p.Leu549=) c.1746G>C (p.Leu582=) c.109-61G>C (n.109-61G>C) c.960G>C (p.Leu320=) c.1897G>C c.1051G>C (n.1051G>C) n.357G>C c.1800G>C (p.Leu600=) c.1596G>C (p.Leu532=) c.1737G>C (p.Leu579=) c.1791G>C (p.Leu597=) c.1587G>C (p.Leu529=)
7	g.75985999G>T	CA456331425	POR	c.1521G>T (p.Leu507=) c.1647G>T (p.Leu549=) c.1746G>T (p.Leu582=) c.109-61G>T (n.109-61G>T) c.960G>T (p.Leu320=) c.1897G>T c.1051G>T (n.1051G>T) n.357G>T c.1800G>T (p.Leu600=) c.1596G>T (p.Leu532=) c.1737G>T (p.Leu579=) c.1791G>T (p.Leu597=) c.1587G>T (p.Leu529=)	gnomAD v4
7	g.75986000G>A	CA367750585	POR	c.1522G>A (p.Ala508Thr) c.1648G>A (p.Ala550Thr) c.1747G>A (p.Ala583Thr) c.109-60G>A (n.109-60G>A) c.961G>A (p.Ala321Thr) c.1898G>A c.1052G>A (n.1052G>A) n.358G>A c.1801G>A (p.Ala601Thr) c.1597G>A (p.Ala533Thr) c.1738G>A (p.Ala580Thr) c.1792G>A (p.Ala598Thr) c.1588G>A (p.Ala530Thr)	gnomAD v4
7	g.75986000G>C	CA367750586	POR	c.1522G>C (p.Ala508Pro) c.1648G>C (p.Ala550Pro) c.1747G>C (p.Ala583Pro) c.109-60G>C (n.109-60G>C) c.961G>C (p.Ala321Pro) c.1898G>C c.1052G>C (n.1052G>C) n.358G>C c.1801G>C (p.Ala601Pro) c.1597G>C (p.Ala533Pro) c.1738G>C (p.Ala580Pro) c.1792G>C (p.Ala598Pro) c.1588G>C (p.Ala530Pro)	dbSNP
7	g.75986000G=	CA1718180470	POR	c.1522G= (p.Ala508=) c.1648G= (p.Ala550=) c.1747G= (p.Ala583=) c.109-60G= (n.109-60G=) c.961G= (p.Ala321=) c.1898G= c.1052G= (n.1052G=) n.358G= c.1801G= (p.Ala601=) c.1597G= (p.Ala533=) c.1738G= (p.Ala580=) c.1792G= (p.Ala598=) c.1588G= (p.Ala530=)
7	g.75986000G>T	CA367750587	POR	c.1522G>T (p.Ala508Ser) c.1648G>T (p.Ala550Ser) c.1747G>T (p.Ala583Ser) c.109-60G>T (n.109-60G>T) c.961G>T (p.Ala321Ser) c.1898G>T c.1052G>T (n.1052G>T) n.358G>T c.1801G>T (p.Ala601Ser) c.1597G>T (p.Ala533Ser) c.1738G>T (p.Ala580Ser) c.1792G>T (p.Ala598Ser) c.1588G>T (p.Ala530Ser)	gnomAD v4
7	g.75986001C>A	CA367750588	POR	c.1523C>A (p.Ala508Glu) c.1649C>A (p.Ala550Glu) c.1748C>A (p.Ala583Glu) c.109-59C>A (n.109-59C>A) c.962C>A (p.Ala321Glu) c.1899C>A c.1053C>A (n.1053C>A) n.359C>A c.1802C>A (p.Ala601Glu) c.1598C>A (p.Ala533Glu) c.1739C>A (p.Ala580Glu) c.1793C>A (p.Ala598Glu) c.1589C>A (p.Ala530Glu)	gnomAD v4
7	g.75986001C=	CA1718180471	POR	c.1523C= (p.Ala508=) c.1649C= (p.Ala550=) c.1748C= (p.Ala583=) c.109-59C= (n.109-59C=) c.962C= (p.Ala321=) c.1899C= c.1053C= (n.1053C=) n.359C= c.1802C= (p.Ala601=) c.1598C= (p.Ala533=) c.1739C= (p.Ala580=) c.1793C= (p.Ala598=) c.1589C= (p.Ala530=)
7	g.75986001C>G	CA367750589	POR	c.1523C>G (p.Ala508Gly) c.1649C>G (p.Ala550Gly) c.1748C>G (p.Ala583Gly) c.109-59C>G (n.109-59C>G) c.962C>G (p.Ala321Gly) c.1899C>G c.1053C>G (n.1053C>G) n.359C>G c.1802C>G (p.Ala601Gly) c.1598C>G (p.Ala533Gly) c.1739C>G (p.Ala580Gly) c.1793C>G (p.Ala598Gly) c.1589C>G (p.Ala530Gly)
7	g.75986001C>T	CA367750590	POR	c.1523C>T (p.Ala508Val) c.1649C>T (p.Ala550Val) c.1748C>T (p.Ala583Val) c.109-59C>T (n.109-59C>T) c.962C>T (p.Ala321Val) c.1899C>T c.1053C>T (n.1053C>T) n.359C>T c.1802C>T (p.Ala601Val) c.1598C>T (p.Ala533Val) c.1739C>T (p.Ala580Val) c.1793C>T (p.Ala598Val) c.1589C>T (p.Ala530Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986002G>A	CA4304268	POR	c.1524G>A (p.Ala508=) c.1650G>A (p.Ala550=) c.1749G>A (p.Ala583=) c.109-58G>A (n.109-58G>A) c.963G>A (p.Ala321=) c.1900G>A c.1054G>A (n.1054G>A) n.360G>A c.1803G>A (p.Ala601=) c.1599G>A (p.Ala533=) c.1740G>A (p.Ala580=) c.1794G>A (p.Ala598=) c.1590G>A (p.Ala530=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7	g.75986002G>C	CA456331427	POR	c.1524G>C (p.Ala508=) c.1650G>C (p.Ala550=) c.1749G>C (p.Ala583=) c.109-58G>C (n.109-58G>C) c.963G>C (p.Ala321=) c.1900G>C c.1054G>C (n.1054G>C) n.360G>C c.1803G>C (p.Ala601=) c.1599G>C (p.Ala533=) c.1740G>C (p.Ala580=) c.1794G>C (p.Ala598=) c.1590G>C (p.Ala530=)
7	g.75986002G=	CA1718180472	POR	c.1524G= (p.Ala508=) c.1650G= (p.Ala550=) c.1749G= (p.Ala583=) c.109-58G= (n.109-58G=) c.963G= (p.Ala321=) c.1900G= c.1054G= (n.1054G=) n.360G= c.1803G= (p.Ala601=) c.1599G= (p.Ala533=) c.1740G= (p.Ala580=) c.1794G= (p.Ala598=) c.1590G= (p.Ala530=)
7	g.75986002G>T	CA456331429	POR	c.1524G>T (p.Ala508=) c.1650G>T (p.Ala550=) c.1749G>T (p.Ala583=) c.109-58G>T (n.109-58G>T) c.963G>T (p.Ala321=) c.1900G>T c.1054G>T (n.1054G>T) n.360G>T c.1803G>T (p.Ala601=) c.1599G>T (p.Ala533=) c.1740G>T (p.Ala580=) c.1794G>T (p.Ala598=) c.1590G>T (p.Ala530=)
7	g.75986002_75986029delinsGCAGTTCCACAGGGACGGTGCGCTCACC	CA1718180473	POR	c.1524_1551delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala508=) c.1650_1677delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala550=) c.1749_1776delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala583=) c.109-58_109-31delinsGCAGTTCCACAGGGACGGTGCGCTCACC (n.109-58_109-31delinsGCAGTTCCACAGGGACGGTGCGCTCACC) c.963_990delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala321=) c.1900_1927delinsGCAGTTCCACAGGGACGGTGCGCTCACC c.1054_1081delinsGCAGTTCCACAGGGACGGTGCGCTCACC (n.1054_1081delinsGCAGTTCCACAGGGACGGTGCGCTCACC) n.360_387delinsGCAGTTCCACAGGGACGGTGCGCTCACC c.1803_1830delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala601=) c.1599_1626delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala533=) c.1740_1767delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala580=) c.1794_1821delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala598=) c.1590_1617delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala530=)
7	g.75986003C>A	CA367750591	POR	c.1525C>A (p.Gln509Lys) c.1651C>A (p.Gln551Lys) c.1750C>A (p.Gln584Lys) c.109-57C>A (n.109-57C>A) c.964C>A (p.Gln322Lys) c.1901C>A c.1055C>A (n.1055C>A) n.361C>A c.1804C>A (p.Gln602Lys) c.1600C>A (p.Gln534Lys) c.1741C>A (p.Gln581Lys) c.1795C>A (p.Gln599Lys) c.1591C>A (p.Gln531Lys)
7	g.75986003C>G	CA367750592	POR	c.1525C>G (p.Gln509Glu) c.1651C>G (p.Gln551Glu) c.1750C>G (p.Gln584Glu) c.109-57C>G (n.109-57C>G) c.964C>G (p.Gln322Glu) c.1901C>G c.1055C>G (n.1055C>G) n.361C>G c.1804C>G (p.Gln602Glu) c.1600C>G (p.Gln534Glu) c.1741C>G (p.Gln581Glu) c.1795C>G (p.Gln599Glu) c.1591C>G (p.Gln531Glu)
7	g.75986003C>T	CA367750593	POR	c.1525C>T (p.Gln509Ter) c.1651C>T (p.Gln551Ter) c.1750C>T (p.Gln584Ter) c.109-57C>T (n.109-57C>T) c.964C>T (p.Gln322Ter) c.1901C>T c.1055C>T (n.1055C>T) n.361C>T c.1804C>T (p.Gln602Ter) c.1600C>T (p.Gln534Ter) c.1741C>T (p.Gln581Ter) c.1795C>T (p.Gln599Ter) c.1591C>T (p.Gln531Ter)
7	g.75986006_75986032del	CA575786104	POR	c.1528_1554del (p.Phe510_Gln518del) c.1654_1680del (p.Phe552_Gln560del) c.1753_1779del (p.Phe585_Gln593del) c.109-54_109-28del (n.109-54_109-28del) c.967_993del (p.Phe323_Gln331del) c.1904_1930del c.1058_1084del (n.1058_1084del) n.364_390del c.1807_1833del (p.Phe603_Gln611del) c.1603_1629del (p.Phe535_Gln543del) c.1744_1770del (p.Phe582_Gln590del) c.1798_1824del (p.Phe600_Gln608del) c.1594_1620del (p.Phe532_Gln540del)	dbSNP gnomAD v2
7	g.75986004A>C	CA367750596	POR	c.1526A>C (p.Gln509Pro) c.1652A>C (p.Gln551Pro) c.1751A>C (p.Gln584Pro) c.109-56A>C (n.109-56A>C) c.965A>C (p.Gln322Pro) c.1902A>C c.1056A>C (n.1056A>C) n.362A>C c.1805A>C (p.Gln602Pro) c.1601A>C (p.Gln534Pro) c.1742A>C (p.Gln581Pro) c.1796A>C (p.Gln599Pro) c.1592A>C (p.Gln531Pro)
7	g.75986004A>G	CA367750594	POR	c.1526A>G (p.Gln509Arg) c.1652A>G (p.Gln551Arg) c.1751A>G (p.Gln584Arg) c.109-56A>G (n.109-56A>G) c.965A>G (p.Gln322Arg) c.1902A>G c.1056A>G (n.1056A>G) n.362A>G c.1805A>G (p.Gln602Arg) c.1601A>G (p.Gln534Arg) c.1742A>G (p.Gln581Arg) c.1796A>G (p.Gln599Arg) c.1592A>G (p.Gln531Arg)	dbSNP gnomAD v3 gnomAD v4
7	g.75986004A>T	CA367750595	POR	c.1526A>T (p.Gln509Leu) c.1652A>T (p.Gln551Leu) c.1751A>T (p.Gln584Leu) c.109-56A>T (n.109-56A>T) c.965A>T (p.Gln322Leu) c.1902A>T c.1056A>T (n.1056A>T) n.362A>T c.1805A>T (p.Gln602Leu) c.1601A>T (p.Gln534Leu) c.1742A>T (p.Gln581Leu) c.1796A>T (p.Gln599Leu) c.1592A>T (p.Gln531Leu)
7	g.75986005G>A	CA456331431	POR	c.1527G>A (p.Gln509=) c.1653G>A (p.Gln551=) c.1752G>A (p.Gln584=) c.109-55G>A (n.109-55G>A) c.966G>A (p.Gln322=) c.1903G>A c.1057G>A (n.1057G>A) n.363G>A c.1806G>A (p.Gln602=) c.1602G>A (p.Gln534=) c.1743G>A (p.Gln581=) c.1797G>A (p.Gln599=) c.1593G>A (p.Gln531=)	gnomAD v4
7	g.75986005G>C	CA367750597	POR	c.1527G>C (p.Gln509His) c.1653G>C (p.Gln551His) c.1752G>C (p.Gln584His) c.109-55G>C (n.109-55G>C) c.966G>C (p.Gln322His) c.1903G>C c.1057G>C (n.1057G>C) n.363G>C c.1806G>C (p.Gln602His) c.1602G>C (p.Gln534His) c.1743G>C (p.Gln581His) c.1797G>C (p.Gln599His) c.1593G>C (p.Gln531His)
7	g.75986005G>T	CA367750598	POR	c.1527G>T (p.Gln509His) c.1653G>T (p.Gln551His) c.1752G>T (p.Gln584His) c.109-55G>T (n.109-55G>T) c.966G>T (p.Gln322His) c.1903G>T c.1057G>T (n.1057G>T) n.363G>T c.1806G>T (p.Gln602His) c.1602G>T (p.Gln534His) c.1743G>T (p.Gln581His) c.1797G>T (p.Gln599His) c.1593G>T (p.Gln531His)
7	g.75986006T>A	CA367750599	POR	c.1528T>A (p.Phe510Ile) c.1654T>A (p.Phe552Ile) c.1753T>A (p.Phe585Ile) c.109-54T>A (n.109-54T>A) c.967T>A (p.Phe323Ile) c.1904T>A c.1058T>A (n.1058T>A) n.364T>A c.1807T>A (p.Phe603Ile) c.1603T>A (p.Phe535Ile) c.1744T>A (p.Phe582Ile) c.1798T>A (p.Phe600Ile) c.1594T>A (p.Phe532Ile)
7	g.75986006T>C	CA367750600	POR	c.1528T>C (p.Phe510Leu) c.1654T>C (p.Phe552Leu) c.1753T>C (p.Phe585Leu) c.109-54T>C (n.109-54T>C) c.967T>C (p.Phe323Leu) c.1904T>C c.1058T>C (n.1058T>C) n.364T>C c.1807T>C (p.Phe603Leu) c.1603T>C (p.Phe535Leu) c.1744T>C (p.Phe582Leu) c.1798T>C (p.Phe600Leu) c.1594T>C (p.Phe532Leu)	dbSNP gnomAD v3 gnomAD v4
7	g.75986006T>G	CA367750601	POR	c.1528T>G (p.Phe510Val) c.1654T>G (p.Phe552Val) c.1753T>G (p.Phe585Val) c.109-54T>G (n.109-54T>G) c.967T>G (p.Phe323Val) c.1904T>G c.1058T>G (n.1058T>G) n.364T>G c.1807T>G (p.Phe603Val) c.1603T>G (p.Phe535Val) c.1744T>G (p.Phe582Val) c.1798T>G (p.Phe600Val) c.1594T>G (p.Phe532Val)
7	g.75986006T=	CA1718180474	POR	c.1528T= (p.Phe510=) c.1654T= (p.Phe552=) c.1753T= (p.Phe585=) c.109-54T= (n.109-54T=) c.967T= (p.Phe323=) c.1904T= c.1058T= (n.1058T=) n.364T= c.1807T= (p.Phe603=) c.1603T= (p.Phe535=) c.1744T= (p.Phe582=) c.1798T= (p.Phe600=) c.1594T= (p.Phe532=)
7	g.75986007T>A	CA367750602	POR	c.1529T>A (p.Phe510Tyr) c.1655T>A (p.Phe552Tyr) c.1754T>A (p.Phe585Tyr) c.109-53T>A (n.109-53T>A) c.968T>A (p.Phe323Tyr) c.1905T>A c.1059T>A (n.1059T>A) n.365T>A c.1808T>A (p.Phe603Tyr) c.1604T>A (p.Phe535Tyr) c.1745T>A (p.Phe582Tyr) c.1799T>A (p.Phe600Tyr) c.1595T>A (p.Phe532Tyr)
7	g.75986007T>C	CA367750603	POR	c.1529T>C (p.Phe510Ser) c.1655T>C (p.Phe552Ser) c.1754T>C (p.Phe585Ser) c.109-53T>C (n.109-53T>C) c.968T>C (p.Phe323Ser) c.1905T>C c.1059T>C (n.1059T>C) n.365T>C c.1808T>C (p.Phe603Ser) c.1604T>C (p.Phe535Ser) c.1745T>C (p.Phe582Ser) c.1799T>C (p.Phe600Ser) c.1595T>C (p.Phe532Ser)	gnomAD v4
7	g.75986007T>G	CA367750604	POR	c.1529T>G (p.Phe510Cys) c.1655T>G (p.Phe552Cys) c.1754T>G (p.Phe585Cys) c.109-53T>G (n.109-53T>G) c.968T>G (p.Phe323Cys) c.1905T>G c.1059T>G (n.1059T>G) n.365T>G c.1808T>G (p.Phe603Cys) c.1604T>G (p.Phe535Cys) c.1745T>G (p.Phe582Cys) c.1799T>G (p.Phe600Cys) c.1595T>G (p.Phe532Cys)
7	g.75986008C>A	CA367750605	POR	c.1530C>A (p.Phe510Leu) c.1656C>A (p.Phe552Leu) c.1755C>A (p.Phe585Leu) c.109-52C>A (n.109-52C>A) c.969C>A (p.Phe323Leu) c.1906C>A c.1060C>A (n.1060C>A) n.366C>A c.1809C>A (p.Phe603Leu) c.1605C>A (p.Phe535Leu) c.1746C>A (p.Phe582Leu) c.1800C>A (p.Phe600Leu) c.1596C>A (p.Phe532Leu)
7	g.75986008C>G	CA367750606	POR	c.1530C>G (p.Phe510Leu) c.1656C>G (p.Phe552Leu) c.1755C>G (p.Phe585Leu) c.109-52C>G (n.109-52C>G) c.969C>G (p.Phe323Leu) c.1906C>G c.1060C>G (n.1060C>G) n.366C>G c.1809C>G (p.Phe603Leu) c.1605C>G (p.Phe535Leu) c.1746C>G (p.Phe582Leu) c.1800C>G (p.Phe600Leu) c.1596C>G (p.Phe532Leu)	gnomAD v4
7	g.75986008C>T	CA456331437	POR	c.1530C>T (p.Phe510=) c.1656C>T (p.Phe552=) c.1755C>T (p.Phe585=) c.109-52C>T (n.109-52C>T) c.969C>T (p.Phe323=) c.1906C>T c.1060C>T (n.1060C>T) n.366C>T c.1809C>T (p.Phe603=) c.1605C>T (p.Phe535=) c.1746C>T (p.Phe582=) c.1800C>T (p.Phe600=) c.1596C>T (p.Phe532=)	gnomAD v4
7	g.75986009C>A	CA367750607	POR	c.1531C>A (p.His511Asn) c.1657C>A (p.His553Asn) c.1756C>A (p.His586Asn) c.109-51C>A (n.109-51C>A) c.970C>A (p.His324Asn) c.1907C>A c.1061C>A (n.1061C>A) n.367C>A c.1810C>A (p.His604Asn) c.1606C>A (p.His536Asn) c.1747C>A (p.His583Asn) c.1801C>A (p.His601Asn) c.1597C>A (p.His533Asn)
7	g.75986009C>G	CA367750608	POR	c.1531C>G (p.His511Asp) c.1657C>G (p.His553Asp) c.1756C>G (p.His586Asp) c.109-51C>G (n.109-51C>G) c.970C>G (p.His324Asp) c.1907C>G c.1061C>G (n.1061C>G) n.367C>G c.1810C>G (p.His604Asp) c.1606C>G (p.His536Asp) c.1747C>G (p.His583Asp) c.1801C>G (p.His601Asp) c.1597C>G (p.His533Asp)
7	g.75986009C>T	CA367750609	POR	c.1531C>T (p.His511Tyr) c.1657C>T (p.His553Tyr) c.1756C>T (p.His586Tyr) c.109-51C>T (n.109-51C>T) c.970C>T (p.His324Tyr) c.1907C>T c.1061C>T (n.1061C>T) n.367C>T c.1810C>T (p.His604Tyr) c.1606C>T (p.His536Tyr) c.1747C>T (p.His583Tyr) c.1801C>T (p.His601Tyr) c.1597C>T (p.His533Tyr)
7	g.75986010A>C	CA367750612	POR	c.1532A>C (p.His511Pro) c.1658A>C (p.His553Pro) c.1757A>C (p.His586Pro) c.109-50A>C (n.109-50A>C) c.971A>C (p.His324Pro) c.1908A>C c.1062A>C (n.1062A>C) n.368A>C c.1811A>C (p.His604Pro) c.1607A>C (p.His536Pro) c.1748A>C (p.His583Pro) c.1802A>C (p.His601Pro) c.1598A>C (p.His533Pro)
7	g.75986010A>G	CA367750611	POR	c.1532A>G (p.His511Arg) c.1658A>G (p.His553Arg) c.1757A>G (p.His586Arg) c.109-50A>G (n.109-50A>G) c.971A>G (p.His324Arg) c.1908A>G c.1062A>G (n.1062A>G) n.368A>G c.1811A>G (p.His604Arg) c.1607A>G (p.His536Arg) c.1748A>G (p.His583Arg) c.1802A>G (p.His601Arg) c.1598A>G (p.His533Arg)	gnomAD v4
7	g.75986010A>T	CA367750610	POR	c.1532A>T (p.His511Leu) c.1658A>T (p.His553Leu) c.1757A>T (p.His586Leu) c.109-50A>T (n.109-50A>T) c.971A>T (p.His324Leu) c.1908A>T c.1062A>T (n.1062A>T) n.368A>T c.1811A>T (p.His604Leu) c.1607A>T (p.His536Leu) c.1748A>T (p.His583Leu) c.1802A>T (p.His601Leu) c.1598A>T (p.His533Leu)
7	g.75986011C>A	CA367750613	POR	c.1533C>A (p.His511Gln) c.1659C>A (p.His553Gln) c.1758C>A (p.His586Gln) c.109-49C>A (n.109-49C>A) c.972C>A (p.His324Gln) c.1909C>A c.1063C>A (n.1063C>A) n.369C>A c.1812C>A (p.His604Gln) c.1608C>A (p.His536Gln) c.1749C>A (p.His583Gln) c.1803C>A (p.His601Gln) c.1599C>A (p.His533Gln)
7	g.75986011C=	CA1718180475	POR	c.1533C= (p.His511=) c.1659C= (p.His553=) c.1758C= (p.His586=) c.109-49C= (n.109-49C=) c.972C= (p.His324=) c.1909C= c.1063C= (n.1063C=) n.369C= c.1812C= (p.His604=) c.1608C= (p.His536=) c.1749C= (p.His583=) c.1803C= (p.His601=) c.1599C= (p.His533=)
7	g.75986011C>G	CA367750614	POR	c.1533C>G (p.His511Gln) c.1659C>G (p.His553Gln) c.1758C>G (p.His586Gln) c.109-49C>G (n.109-49C>G) c.972C>G (p.His324Gln) c.1909C>G c.1063C>G (n.1063C>G) n.369C>G c.1812C>G (p.His604Gln) c.1608C>G (p.His536Gln) c.1749C>G (p.His583Gln) c.1803C>G (p.His601Gln) c.1599C>G (p.His533Gln)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7	g.75986011C>T	CA456331441	POR	c.1533C>T (p.His511=) c.1659C>T (p.His553=) c.1758C>T (p.His586=) c.109-49C>T (n.109-49C>T) c.972C>T (p.His324=) c.1909C>T c.1063C>T (n.1063C>T) n.369C>T c.1812C>T (p.His604=) c.1608C>T (p.His536=) c.1749C>T (p.His583=) c.1803C>T (p.His601=) c.1599C>T (p.His533=)
7	g.75986012A=	CA1718180476	POR	c.1534A= (p.Arg512=) c.1660A= (p.Arg554=) c.1759A= (p.Arg587=) c.109-48A= (n.109-48A=) c.973A= (p.Arg325=) c.1910A= c.1064A= (n.1064A=) n.370A= c.1813A= (p.Arg605=) c.1609A= (p.Arg537=) c.1750A= (p.Arg584=) c.1804A= (p.Arg602=) c.1600A= (p.Arg534=)
7	g.75986012A>C	CA456331442	POR	c.1534A>C (p.Arg512=) c.1660A>C (p.Arg554=) c.1759A>C (p.Arg587=) c.109-48A>C (n.109-48A>C) c.973A>C (p.Arg325=) c.1910A>C c.1064A>C (n.1064A>C) n.370A>C c.1813A>C (p.Arg605=) c.1609A>C (p.Arg537=) c.1750A>C (p.Arg584=) c.1804A>C (p.Arg602=) c.1600A>C (p.Arg534=)
7	g.75986012A>G	CA4304269	POR	c.1534A>G (p.Arg512Gly) c.1660A>G (p.Arg554Gly) c.1759A>G (p.Arg587Gly) c.109-48A>G (n.109-48A>G) c.973A>G (p.Arg325Gly) c.1910A>G c.1064A>G (n.1064A>G) n.370A>G c.1813A>G (p.Arg605Gly) c.1609A>G (p.Arg537Gly) c.1750A>G (p.Arg584Gly) c.1804A>G (p.Arg602Gly) c.1600A>G (p.Arg534Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986012A>T	CA367750615	POR	c.1534A>T (p.Arg512Trp) c.1660A>T (p.Arg554Trp) c.1759A>T (p.Arg587Trp) c.109-48A>T (n.109-48A>T) c.973A>T (p.Arg325Trp) c.1910A>T c.1064A>T (n.1064A>T) n.370A>T c.1813A>T (p.Arg605Trp) c.1609A>T (p.Arg537Trp) c.1750A>T (p.Arg584Trp) c.1804A>T (p.Arg602Trp) c.1600A>T (p.Arg534Trp)
7	g.75986013G>A	CA367750616	POR	c.1535G>A (p.Arg512Lys) c.1661G>A (p.Arg554Lys) c.1760G>A (p.Arg587Lys) c.109-47G>A (n.109-47G>A) c.974G>A (p.Arg325Lys) c.1911G>A c.1065G>A (n.1065G>A) n.371G>A c.1814G>A (p.Arg605Lys) c.1610G>A (p.Arg537Lys) c.1751G>A (p.Arg584Lys) c.1805G>A (p.Arg602Lys) c.1601G>A (p.Arg534Lys)
7	g.75986013G>C	CA367750617	POR	c.1535G>C (p.Arg512Thr) c.1661G>C (p.Arg554Thr) c.1760G>C (p.Arg587Thr) c.109-47G>C (n.109-47G>C) c.974G>C (p.Arg325Thr) c.1911G>C c.1065G>C (n.1065G>C) n.371G>C c.1814G>C (p.Arg605Thr) c.1610G>C (p.Arg537Thr) c.1751G>C (p.Arg584Thr) c.1805G>C (p.Arg602Thr) c.1601G>C (p.Arg534Thr)
7	g.75986013G>T	CA367750618	POR	c.1535G>T (p.Arg512Met) c.1661G>T (p.Arg554Met) c.1760G>T (p.Arg587Met) c.109-47G>T (n.109-47G>T) c.974G>T (p.Arg325Met) c.1911G>T c.1065G>T (n.1065G>T) n.371G>T c.1814G>T (p.Arg605Met) c.1610G>T (p.Arg537Met) c.1751G>T (p.Arg584Met) c.1805G>T (p.Arg602Met) c.1601G>T (p.Arg534Met)	gnomAD v4
7	g.75986014G>A	CA4304270	POR	c.1536G>A (p.Arg512=) c.1662G>A (p.Arg554=) c.1761G>A (p.Arg587=) c.109-46G>A (n.109-46G>A) c.975G>A (p.Arg325=) c.1912G>A c.1066G>A (n.1066G>A) n.372G>A c.1815G>A (p.Arg605=) c.1611G>A (p.Arg537=) c.1752G>A (p.Arg584=) c.1806G>A (p.Arg602=) c.1602G>A (p.Arg534=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986014G>C	CA367750619	POR	c.1536G>C (p.Arg512Ser) c.1662G>C (p.Arg554Ser) c.1761G>C (p.Arg587Ser) c.109-46G>C (n.109-46G>C) c.975G>C (p.Arg325Ser) c.1912G>C c.1066G>C (n.1066G>C) n.372G>C c.1815G>C (p.Arg605Ser) c.1611G>C (p.Arg537Ser) c.1752G>C (p.Arg584Ser) c.1806G>C (p.Arg602Ser) c.1602G>C (p.Arg534Ser)
7	g.75986014G=	CA1718180477	POR	c.1536G= (p.Arg512=) c.1662G= (p.Arg554=) c.1761G= (p.Arg587=) c.109-46G= (n.109-46G=) c.975G= (p.Arg325=) c.1912G= c.1066G= (n.1066G=) n.372G= c.1815G= (p.Arg605=) c.1611G= (p.Arg537=) c.1752G= (p.Arg584=) c.1806G= (p.Arg602=) c.1602G= (p.Arg534=)
7	g.75986014G>T	CA367750620	POR	c.1536G>T (p.Arg512Ser) c.1662G>T (p.Arg554Ser) c.1761G>T (p.Arg587Ser) c.109-46G>T (n.109-46G>T) c.975G>T (p.Arg325Ser) c.1912G>T c.1066G>T (n.1066G>T) n.372G>T c.1815G>T (p.Arg605Ser) c.1611G>T (p.Arg537Ser) c.1752G>T (p.Arg584Ser) c.1806G>T (p.Arg602Ser) c.1602G>T (p.Arg534Ser)	gnomAD v4
7	g.75986015G>A	CA367750621	POR	c.1537G>A (p.Asp513Asn) c.1663G>A (p.Asp555Asn) c.1762G>A (p.Asp588Asn) c.109-45G>A (n.109-45G>A) c.976G>A (p.Asp326Asn) c.1913G>A c.1067G>A (n.1067G>A) n.373G>A c.1816G>A (p.Asp606Asn) c.1612G>A (p.Asp538Asn) c.1753G>A (p.Asp585Asn) c.1807G>A (p.Asp603Asn) c.1603G>A (p.Asp535Asn)	dbSNP gnomAD v3 gnomAD v4
7	g.75986015G>C	CA367750622	POR	c.1537G>C (p.Asp513His) c.1663G>C (p.Asp555His) c.1762G>C (p.Asp588His) c.109-45G>C (n.109-45G>C) c.976G>C (p.Asp326His) c.1913G>C c.1067G>C (n.1067G>C) n.373G>C c.1816G>C (p.Asp606His) c.1612G>C (p.Asp538His) c.1753G>C (p.Asp585His) c.1807G>C (p.Asp603His) c.1603G>C (p.Asp535His)
7	g.75986015G=	CA1718180478	POR	c.1537G= (p.Asp513=) c.1663G= (p.Asp555=) c.1762G= (p.Asp588=) c.109-45G= (n.109-45G=) c.976G= (p.Asp326=) c.1913G= c.1067G= (n.1067G=) n.373G= c.1816G= (p.Asp606=) c.1612G= (p.Asp538=) c.1753G= (p.Asp585=) c.1807G= (p.Asp603=) c.1603G= (p.Asp535=)
7	g.75986015G>T	CA367750623	POR	c.1537G>T (p.Asp513Tyr) c.1663G>T (p.Asp555Tyr) c.1762G>T (p.Asp588Tyr) c.109-45G>T (n.109-45G>T) c.976G>T (p.Asp326Tyr) c.1913G>T c.1067G>T (n.1067G>T) n.373G>T c.1816G>T (p.Asp606Tyr) c.1612G>T (p.Asp538Tyr) c.1753G>T (p.Asp585Tyr) c.1807G>T (p.Asp603Tyr) c.1603G>T (p.Asp535Tyr)	gnomAD v4
7	g.75986016A=	CA1718180479	POR	c.1538A= (p.Asp513=) c.1664A= (p.Asp555=) c.1763A= (p.Asp588=) c.109-44A= (n.109-44A=) c.977A= (p.Asp326=) c.1914A= c.1068A= (n.1068A=) n.374A= c.1817A= (p.Asp606=) c.1613A= (p.Asp538=) c.1754A= (p.Asp585=) c.1808A= (p.Asp603=) c.1604A= (p.Asp535=)
7	g.75986016A>C	CA367750624	POR	c.1538A>C (p.Asp513Ala) c.1664A>C (p.Asp555Ala) c.1763A>C (p.Asp588Ala) c.109-44A>C (n.109-44A>C) c.977A>C (p.Asp326Ala) c.1914A>C c.1068A>C (n.1068A>C) n.374A>C c.1817A>C (p.Asp606Ala) c.1613A>C (p.Asp538Ala) c.1754A>C (p.Asp585Ala) c.1808A>C (p.Asp603Ala) c.1604A>C (p.Asp535Ala)
7	g.75986016A>G	CA367750625	POR	c.1538A>G (p.Asp513Gly) c.1664A>G (p.Asp555Gly) c.1763A>G (p.Asp588Gly) c.109-44A>G (n.109-44A>G) c.977A>G (p.Asp326Gly) c.1914A>G c.1068A>G (n.1068A>G) n.374A>G c.1817A>G (p.Asp606Gly) c.1613A>G (p.Asp538Gly) c.1754A>G (p.Asp585Gly) c.1808A>G (p.Asp603Gly) c.1604A>G (p.Asp535Gly)	dbSNP
7	g.75986016A>T	CA367750626	POR	c.1538A>T (p.Asp513Val) c.1664A>T (p.Asp555Val) c.1763A>T (p.Asp588Val) c.109-44A>T (n.109-44A>T) c.977A>T (p.Asp326Val) c.1914A>T c.1068A>T (n.1068A>T) n.374A>T c.1817A>T (p.Asp606Val) c.1613A>T (p.Asp538Val) c.1754A>T (p.Asp585Val) c.1808A>T (p.Asp603Val) c.1604A>T (p.Asp535Val)
7	g.75986017C>A	CA367750628	POR	c.1539C>A (p.Asp513Glu) c.1665C>A (p.Asp555Glu) c.1764C>A (p.Asp588Glu) c.109-43C>A (n.109-43C>A) c.978C>A (p.Asp326Glu) c.1915C>A c.1069C>A (n.1069C>A) n.375C>A c.1818C>A (p.Asp606Glu) c.1614C>A (p.Asp538Glu) c.1755C>A (p.Asp585Glu) c.1809C>A (p.Asp603Glu) c.1605C>A (p.Asp535Glu)
7	g.75986017C=	CA1718180480	POR	c.1539C= (p.Asp513=) c.1665C= (p.Asp555=) c.1764C= (p.Asp588=) c.109-43C= (n.109-43C=) c.978C= (p.Asp326=) c.1915C= c.1069C= (n.1069C=) n.375C= c.1818C= (p.Asp606=) c.1614C= (p.Asp538=) c.1755C= (p.Asp585=) c.1809C= (p.Asp603=) c.1605C= (p.Asp535=)
7	g.75986017C>G	CA367750627	POR	c.1539C>G (p.Asp513Glu) c.1665C>G (p.Asp555Glu) c.1764C>G (p.Asp588Glu) c.109-43C>G (n.109-43C>G) c.978C>G (p.Asp326Glu) c.1915C>G c.1069C>G (n.1069C>G) n.375C>G c.1818C>G (p.Asp606Glu) c.1614C>G (p.Asp538Glu) c.1755C>G (p.Asp585Glu) c.1809C>G (p.Asp603Glu) c.1605C>G (p.Asp535Glu)
7	g.75986017C>T	CA4304271	POR	c.1539C>T (p.Asp513=) c.1665C>T (p.Asp555=) c.1764C>T (p.Asp588=) c.109-43C>T (n.109-43C>T) c.978C>T (p.Asp326=) c.1915C>T c.1069C>T (n.1069C>T) n.375C>T c.1818C>T (p.Asp606=) c.1614C>T (p.Asp538=) c.1755C>T (p.Asp585=) c.1809C>T (p.Asp603=) c.1605C>T (p.Asp535=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986018G>A	CA4304272	POR	c.1540G>A (p.Gly514Ser) c.1666G>A (p.Gly556Ser) c.1765G>A (p.Gly589Ser) c.109-42G>A (n.109-42G>A) c.979G>A (p.Gly327Ser) c.1916G>A c.1070G>A (n.1070G>A) n.376G>A c.1819G>A (p.Gly607Ser) c.1615G>A (p.Gly539Ser) c.1756G>A (p.Gly586Ser) c.1810G>A (p.Gly604Ser) c.1606G>A (p.Gly536Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986018G>C	CA367750629	POR	c.1540G>C (p.Gly514Arg) c.1666G>C (p.Gly556Arg) c.1765G>C (p.Gly589Arg) c.109-42G>C (n.109-42G>C) c.979G>C (p.Gly327Arg) c.1916G>C c.1070G>C (n.1070G>C) n.376G>C c.1819G>C (p.Gly607Arg) c.1615G>C (p.Gly539Arg) c.1756G>C (p.Gly586Arg) c.1810G>C (p.Gly604Arg) c.1606G>C (p.Gly536Arg)
7	g.75986018G=	CA1718180481	POR	c.1540G= (p.Gly514=) c.1666G= (p.Gly556=) c.1765G= (p.Gly589=) c.109-42G= (n.109-42G=) c.979G= (p.Gly327=) c.1916G= c.1070G= (n.1070G=) n.376G= c.1819G= (p.Gly607=) c.1615G= (p.Gly539=) c.1756G= (p.Gly586=) c.1810G= (p.Gly604=) c.1606G= (p.Gly536=)
7	g.75986018G>T	CA367750630	POR	c.1540G>T (p.Gly514Cys) c.1666G>T (p.Gly556Cys) c.1765G>T (p.Gly589Cys) c.109-42G>T (n.109-42G>T) c.979G>T (p.Gly327Cys) c.1916G>T c.1070G>T (n.1070G>T) n.376G>T c.1819G>T (p.Gly607Cys) c.1615G>T (p.Gly539Cys) c.1756G>T (p.Gly586Cys) c.1810G>T (p.Gly604Cys) c.1606G>T (p.Gly536Cys)
7	g.75986019G>A	CA367750631	POR	c.1541G>A (p.Gly514Asp) c.1667G>A (p.Gly556Asp) c.1766G>A (p.Gly589Asp) c.109-41G>A (n.109-41G>A) c.980G>A (p.Gly327Asp) c.1917G>A c.1071G>A (n.1071G>A) n.377G>A c.1820G>A (p.Gly607Asp) c.1616G>A (p.Gly539Asp) c.1757G>A (p.Gly586Asp) c.1811G>A (p.Gly604Asp) c.1607G>A (p.Gly536Asp)	dbSNP gnomAD v4
7	g.75986019G>C	CA367750632	POR	c.1541G>C (p.Gly514Ala) c.1667G>C (p.Gly556Ala) c.1766G>C (p.Gly589Ala) c.109-41G>C (n.109-41G>C) c.980G>C (p.Gly327Ala) c.1917G>C c.1071G>C (n.1071G>C) n.377G>C c.1820G>C (p.Gly607Ala) c.1616G>C (p.Gly539Ala) c.1757G>C (p.Gly586Ala) c.1811G>C (p.Gly604Ala) c.1607G>C (p.Gly536Ala)
7	g.75986019G=	CA1718180482	POR	c.1541G= (p.Gly514=) c.1667G= (p.Gly556=) c.1766G= (p.Gly589=) c.109-41G= (n.109-41G=) c.980G= (p.Gly327=) c.1917G= c.1071G= (n.1071G=) n.377G= c.1820G= (p.Gly607=) c.1616G= (p.Gly539=) c.1757G= (p.Gly586=) c.1811G= (p.Gly604=) c.1607G= (p.Gly536=)
7	g.75986019G>T	CA367750633	POR	c.1541G>T (p.Gly514Val) c.1667G>T (p.Gly556Val) c.1766G>T (p.Gly589Val) c.109-41G>T (n.109-41G>T) c.980G>T (p.Gly327Val) c.1917G>T c.1071G>T (n.1071G>T) n.377G>T c.1820G>T (p.Gly607Val) c.1616G>T (p.Gly539Val) c.1757G>T (p.Gly586Val) c.1811G>T (p.Gly604Val) c.1607G>T (p.Gly536Val)
7	g.75986020T>A	CA456331468	POR	c.1542T>A (p.Gly514=) c.1668T>A (p.Gly556=) c.1767T>A (p.Gly589=) c.109-40T>A (n.109-40T>A) c.981T>A (p.Gly327=) c.1918T>A c.1072T>A (n.1072T>A) n.378T>A c.1821T>A (p.Gly607=) c.1617T>A (p.Gly539=) c.1758T>A (p.Gly586=) c.1812T>A (p.Gly604=) c.1608T>A (p.Gly536=)
7	g.75986020T>C	CA456331469	POR	c.1542T>C (p.Gly514=) c.1668T>C (p.Gly556=) c.1767T>C (p.Gly589=) c.109-40T>C (n.109-40T>C) c.981T>C (p.Gly327=) c.1918T>C c.1072T>C (n.1072T>C) n.378T>C c.1821T>C (p.Gly607=) c.1617T>C (p.Gly539=) c.1758T>C (p.Gly586=) c.1812T>C (p.Gly604=) c.1608T>C (p.Gly536=)	gnomAD v4
7	g.75986020T>G	CA456331470	POR	c.1542T>G (p.Gly514=) c.1668T>G (p.Gly556=) c.1767T>G (p.Gly589=) c.109-40T>G (n.109-40T>G) c.981T>G (p.Gly327=) c.1918T>G c.1072T>G (n.1072T>G) n.378T>G c.1821T>G (p.Gly607=) c.1617T>G (p.Gly539=) c.1758T>G (p.Gly586=) c.1812T>G (p.Gly604=) c.1608T>G (p.Gly536=)
7	g.75986021G>A	CA367750634	POR	c.1543G>A (p.Ala515Thr) c.1669G>A (p.Ala557Thr) c.1768G>A (p.Ala590Thr) c.109-39G>A (n.109-39G>A) c.982G>A (p.Ala328Thr) c.1919G>A c.1073G>A (n.1073G>A) n.379G>A c.1822G>A (p.Ala608Thr) c.1618G>A (p.Ala540Thr) c.1759G>A (p.Ala587Thr) c.1813G>A (p.Ala605Thr) c.1609G>A (p.Ala537Thr)	gnomAD v4
7	g.75986021G>C	CA367750635	POR	c.1543G>C (p.Ala515Pro) c.1669G>C (p.Ala557Pro) c.1768G>C (p.Ala590Pro) c.109-39G>C (n.109-39G>C) c.982G>C (p.Ala328Pro) c.1919G>C c.1073G>C (n.1073G>C) n.379G>C c.1822G>C (p.Ala608Pro) c.1618G>C (p.Ala540Pro) c.1759G>C (p.Ala587Pro) c.1813G>C (p.Ala605Pro) c.1609G>C (p.Ala537Pro)
7	g.75986021G=	CA1718180483	POR	c.1543G= (p.Ala515=) c.1669G= (p.Ala557=) c.1768G= (p.Ala590=) c.109-39G= (n.109-39G=) c.982G= (p.Ala328=) c.1919G= c.1073G= (n.1073G=) n.379G= c.1822G= (p.Ala608=) c.1618G= (p.Ala540=) c.1759G= (p.Ala587=) c.1813G= (p.Ala605=) c.1609G= (p.Ala537=)
7	g.75986021G>T	CA367750636	POR	c.1543G>T (p.Ala515Ser) c.1669G>T (p.Ala557Ser) c.1768G>T (p.Ala590Ser) c.109-39G>T (n.109-39G>T) c.982G>T (p.Ala328Ser) c.1919G>T c.1073G>T (n.1073G>T) n.379G>T c.1822G>T (p.Ala608Ser) c.1618G>T (p.Ala540Ser) c.1759G>T (p.Ala587Ser) c.1813G>T (p.Ala605Ser) c.1609G>T (p.Ala537Ser)
7	g.75986022C>A	CA367750637	POR	c.1544C>A (p.Ala515Glu) c.1670C>A (p.Ala557Glu) c.1769C>A (p.Ala590Glu) c.109-38C>A (n.109-38C>A) c.983C>A (p.Ala328Glu) c.1920C>A c.1074C>A (n.1074C>A) n.380C>A c.1823C>A (p.Ala608Glu) c.1619C>A (p.Ala540Glu) c.1760C>A (p.Ala587Glu) c.1814C>A (p.Ala605Glu) c.1610C>A (p.Ala537Glu)
7	g.75986022C=	CA1718180484	POR	c.1544C= (p.Ala515=) c.1670C= (p.Ala557=) c.1769C= (p.Ala590=) c.109-38C= (n.109-38C=) c.983C= (p.Ala328=) c.1920C= c.1074C= (n.1074C=) n.380C= c.1823C= (p.Ala608=) c.1619C= (p.Ala540=) c.1760C= (p.Ala587=) c.1814C= (p.Ala605=) c.1610C= (p.Ala537=)
7	g.75986022C>G	CA367750638	POR	c.1544C>G (p.Ala515Gly) c.1670C>G (p.Ala557Gly) c.1769C>G (p.Ala590Gly) c.109-38C>G (n.109-38C>G) c.983C>G (p.Ala328Gly) c.1920C>G c.1074C>G (n.1074C>G) n.380C>G c.1823C>G (p.Ala608Gly) c.1619C>G (p.Ala540Gly) c.1760C>G (p.Ala587Gly) c.1814C>G (p.Ala605Gly) c.1610C>G (p.Ala537Gly)	dbSNP gnomAD v3 gnomAD v4
7	g.75986022C>T	CA4304273	POR	c.1544C>T (p.Ala515Val) c.1670C>T (p.Ala557Val) c.1769C>T (p.Ala590Val) c.109-38C>T (n.109-38C>T) c.983C>T (p.Ala328Val) c.1920C>T c.1074C>T (n.1074C>T) n.380C>T c.1823C>T (p.Ala608Val) c.1619C>T (p.Ala540Val) c.1760C>T (p.Ala587Val) c.1814C>T (p.Ala605Val) c.1610C>T (p.Ala537Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986023_75986029dup	CA891862846	POR	c.1545_1551dup (p.Gln518AlafsTer?) c.1671_1677dup (p.Gln560AlafsTer?) c.1770_1776dup (p.Gln593AlafsTer?) c.109-37_109-31dup (n.109-37_109-31dup) c.984_990dup (p.Gln331AlafsTer?) c.1921_1927dup c.1075_1081dup (n.1075_1081dup) n.381_387dup c.1824_1830dup (p.Gln611AlafsTer?) c.1620_1626dup (p.Gln543AlafsTer?) c.1761_1767dup (p.Gln590AlafsTer?) c.1815_1821dup (p.Gln608AlafsTer?) c.1611_1617dup (p.Gln540AlafsTer?)	ClinVar dbSNP gnomAD v4
7	g.75986023G>A	CA456331473	POR	c.1545G>A (p.Ala515=) c.1671G>A (p.Ala557=) c.1770G>A (p.Ala590=) c.109-37G>A (n.109-37G>A) c.984G>A (p.Ala328=) c.1921G>A c.1075G>A (n.1075G>A) n.381G>A c.1824G>A (p.Ala608=) c.1620G>A (p.Ala540=) c.1761G>A (p.Ala587=) c.1815G>A (p.Ala605=) c.1611G>A (p.Ala537=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7	g.75986023G>C	CA456331474	POR	c.1545G>C (p.Ala515=) c.1671G>C (p.Ala557=) c.1770G>C (p.Ala590=) c.109-37G>C (n.109-37G>C) c.984G>C (p.Ala328=) c.1921G>C c.1075G>C (n.1075G>C) n.381G>C c.1824G>C (p.Ala608=) c.1620G>C (p.Ala540=) c.1761G>C (p.Ala587=) c.1815G>C (p.Ala605=) c.1611G>C (p.Ala537=)	dbSNP gnomAD v3 gnomAD v4
7	g.75986023G=	CA1718180485	POR	c.1545G= (p.Ala515=) c.1671G= (p.Ala557=) c.1770G= (p.Ala590=) c.109-37G= (n.109-37G=) c.984G= (p.Ala328=) c.1921G= c.1075G= (n.1075G=) n.381G= c.1824G= (p.Ala608=) c.1620G= (p.Ala540=) c.1761G= (p.Ala587=) c.1815G= (p.Ala605=) c.1611G= (p.Ala537=)
7	g.75986023G>T	CA456331475	POR	c.1545G>T (p.Ala515=) c.1671G>T (p.Ala557=) c.1770G>T (p.Ala590=) c.109-37G>T (n.109-37G>T) c.984G>T (p.Ala328=) c.1921G>T c.1075G>T (n.1075G>T) n.381G>T c.1824G>T (p.Ala608=) c.1620G>T (p.Ala540=) c.1761G>T (p.Ala587=) c.1815G>T (p.Ala605=) c.1611G>T (p.Ala537=)	gnomAD v4
7	g.75986024C>A	CA367750641	POR	c.1546C>A (p.Leu516Ile) c.1672C>A (p.Leu558Ile) c.1771C>A (p.Leu591Ile) c.109-36C>A (n.109-36C>A) c.985C>A (p.Leu329Ile) c.1922C>A c.1076C>A (n.1076C>A) n.382C>A c.1825C>A (p.Leu609Ile) c.1621C>A (p.Leu541Ile) c.1762C>A (p.Leu588Ile) c.1816C>A (p.Leu606Ile) c.1612C>A (p.Leu538Ile)	gnomAD v4
7	g.75986024C=	CA1718180486	POR	c.1546C= (p.Leu516=) c.1672C= (p.Leu558=) c.1771C= (p.Leu591=) c.109-36C= (n.109-36C=) c.985C= (p.Leu329=) c.1922C= c.1076C= (n.1076C=) n.382C= c.1825C= (p.Leu609=) c.1621C= (p.Leu541=) c.1762C= (p.Leu588=) c.1816C= (p.Leu606=) c.1612C= (p.Leu538=)
7	g.75986024C>G	CA367750640	POR	c.1546C>G (p.Leu516Val) c.1672C>G (p.Leu558Val) c.1771C>G (p.Leu591Val) c.109-36C>G (n.109-36C>G) c.985C>G (p.Leu329Val) c.1922C>G c.1076C>G (n.1076C>G) n.382C>G c.1825C>G (p.Leu609Val) c.1621C>G (p.Leu541Val) c.1762C>G (p.Leu588Val) c.1816C>G (p.Leu606Val) c.1612C>G (p.Leu538Val)
7	g.75986024C>T	CA367750639	POR	c.1546C>T (p.Leu516Phe) c.1672C>T (p.Leu558Phe) c.1771C>T (p.Leu591Phe) c.109-36C>T (n.109-36C>T) c.985C>T (p.Leu329Phe) c.1922C>T c.1076C>T (n.1076C>T) n.382C>T c.1825C>T (p.Leu609Phe) c.1621C>T (p.Leu541Phe) c.1762C>T (p.Leu588Phe) c.1816C>T (p.Leu606Phe) c.1612C>T (p.Leu538Phe)	dbSNP gnomAD v2 gnomAD v4
7	g.75986025T>A	CA367750644	POR	c.1547T>A (p.Leu516His) c.1673T>A (p.Leu558His) c.1772T>A (p.Leu591His) c.109-35T>A (n.109-35T>A) c.986T>A (p.Leu329His) c.1923T>A c.1077T>A (n.1077T>A) n.383T>A c.1826T>A (p.Leu609His) c.1622T>A (p.Leu541His) c.1763T>A (p.Leu588His) c.1817T>A (p.Leu606His) c.1613T>A (p.Leu538His)
7	g.75986025T>C	CA367750642	POR	c.1547T>C (p.Leu516Pro) c.1673T>C (p.Leu558Pro) c.1772T>C (p.Leu591Pro) c.109-35T>C (n.109-35T>C) c.986T>C (p.Leu329Pro) c.1923T>C c.1077T>C (n.1077T>C) n.383T>C c.1826T>C (p.Leu609Pro) c.1622T>C (p.Leu541Pro) c.1763T>C (p.Leu588Pro) c.1817T>C (p.Leu606Pro) c.1613T>C (p.Leu538Pro)
7	g.75986025T>G	CA367750643	POR	c.1547T>G (p.Leu516Arg) c.1673T>G (p.Leu558Arg) c.1772T>G (p.Leu591Arg) c.109-35T>G (n.109-35T>G) c.986T>G (p.Leu329Arg) c.1923T>G c.1077T>G (n.1077T>G) n.383T>G c.1826T>G (p.Leu609Arg) c.1622T>G (p.Leu541Arg) c.1763T>G (p.Leu588Arg) c.1817T>G (p.Leu606Arg) c.1613T>G (p.Leu538Arg)
7	g.75986026C>A	CA456331482	POR	c.1548C>A (p.Leu516=) c.1674C>A (p.Leu558=) c.1773C>A (p.Leu591=) c.109-34C>A (n.109-34C>A) c.987C>A (p.Leu329=) c.1924C>A c.1078C>A (n.1078C>A) n.384C>A c.1827C>A (p.Leu609=) c.1623C>A (p.Leu541=) c.1764C>A (p.Leu588=) c.1818C>A (p.Leu606=) c.1614C>A (p.Leu538=)
7	g.75986026C>G	CA456331483	POR	c.1548C>G (p.Leu516=) c.1674C>G (p.Leu558=) c.1773C>G (p.Leu591=) c.109-34C>G (n.109-34C>G) c.987C>G (p.Leu329=) c.1924C>G c.1078C>G (n.1078C>G) n.384C>G c.1827C>G (p.Leu609=) c.1623C>G (p.Leu541=) c.1764C>G (p.Leu588=) c.1818C>G (p.Leu606=) c.1614C>G (p.Leu538=)
7	g.75986026C>T	CA456331488	POR	c.1548C>T (p.Leu516=) c.1674C>T (p.Leu558=) c.1773C>T (p.Leu591=) c.109-34C>T (n.109-34C>T) c.987C>T (p.Leu329=) c.1924C>T c.1078C>T (n.1078C>T) n.384C>T c.1827C>T (p.Leu609=) c.1623C>T (p.Leu541=) c.1764C>T (p.Leu588=) c.1818C>T (p.Leu606=) c.1614C>T (p.Leu538=)	gnomAD v4
7	g.75986027A>C	CA367750645	POR	c.1549A>C (p.Thr517Pro) c.1675A>C (p.Thr559Pro) c.1774A>C (p.Thr592Pro) c.109-33A>C (n.109-33A>C) c.988A>C (p.Thr330Pro) c.1925A>C c.1079A>C (n.1079A>C) n.385A>C c.1828A>C (p.Thr610Pro) c.1624A>C (p.Thr542Pro) c.1765A>C (p.Thr589Pro) c.1819A>C (p.Thr607Pro) c.1615A>C (p.Thr539Pro)
7	g.75986027A>G	CA367750646	POR	c.1549A>G (p.Thr517Ala) c.1675A>G (p.Thr559Ala) c.1774A>G (p.Thr592Ala) c.109-33A>G (n.109-33A>G) c.988A>G (p.Thr330Ala) c.1925A>G c.1079A>G (n.1079A>G) n.385A>G c.1828A>G (p.Thr610Ala) c.1624A>G (p.Thr542Ala) c.1765A>G (p.Thr589Ala) c.1819A>G (p.Thr607Ala) c.1615A>G (p.Thr539Ala)
7	g.75986027A>T	CA367750647	POR	c.1549A>T (p.Thr517Ser) c.1675A>T (p.Thr559Ser) c.1774A>T (p.Thr592Ser) c.109-33A>T (n.109-33A>T) c.988A>T (p.Thr330Ser) c.1925A>T c.1079A>T (n.1079A>T) n.385A>T c.1828A>T (p.Thr610Ser) c.1624A>T (p.Thr542Ser) c.1765A>T (p.Thr589Ser) c.1819A>T (p.Thr607Ser) c.1615A>T (p.Thr539Ser)
7	g.75986028C>A	CA367750648	POR	c.1550C>A (p.Thr517Asn) c.1676C>A (p.Thr559Asn) c.1775C>A (p.Thr592Asn) c.109-32C>A (n.109-32C>A) c.989C>A (p.Thr330Asn) c.1926C>A c.1080C>A (n.1080C>A) n.386C>A c.1829C>A (p.Thr610Asn) c.1625C>A (p.Thr542Asn) c.1766C>A (p.Thr589Asn) c.1820C>A (p.Thr607Asn) c.1616C>A (p.Thr539Asn)	gnomAD v4
7	g.75986028C=	CA1718180487	POR	c.1550C= (p.Thr517=) c.1676C= (p.Thr559=) c.1775C= (p.Thr592=) c.109-32C= (n.109-32C=) c.989C= (p.Thr330=) c.1926C= c.1080C= (n.1080C=) n.386C= c.1829C= (p.Thr610=) c.1625C= (p.Thr542=) c.1766C= (p.Thr589=) c.1820C= (p.Thr607=) c.1616C= (p.Thr539=)
7	g.75986028C>G	CA367750649	POR	c.1550C>G (p.Thr517Ser) c.1676C>G (p.Thr559Ser) c.1775C>G (p.Thr592Ser) c.109-32C>G (n.109-32C>G) c.989C>G (p.Thr330Ser) c.1926C>G c.1080C>G (n.1080C>G) n.386C>G c.1829C>G (p.Thr610Ser) c.1625C>G (p.Thr542Ser) c.1766C>G (p.Thr589Ser) c.1820C>G (p.Thr607Ser) c.1616C>G (p.Thr539Ser)
7	g.75986028C>T	CA4304274	POR	c.1550C>T (p.Thr517Ile) c.1676C>T (p.Thr559Ile) c.1775C>T (p.Thr592Ile) c.109-32C>T (n.109-32C>T) c.989C>T (p.Thr330Ile) c.1926C>T c.1080C>T (n.1080C>T) n.386C>T c.1829C>T (p.Thr610Ile) c.1625C>T (p.Thr542Ile) c.1766C>T (p.Thr589Ile) c.1820C>T (p.Thr607Ile) c.1616C>T (p.Thr539Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.75986029C>A	CA456331493	POR	c.1551C>A (p.Thr517=) c.1677C>A (p.Thr559=) c.1776C>A (p.Thr592=) c.109-31C>A (n.109-31C>A) c.990C>A (p.Thr330=) c.1927C>A c.1081C>A (n.1081C>A) n.387C>A c.1830C>A (p.Thr610=) c.1626C>A (p.Thr542=) c.1767C>A (p.Thr589=) c.1821C>A (p.Thr607=) c.1617C>A (p.Thr539=)	ClinVar gnomAD v4
7	g.75986029C>G	CA456331497	POR	c.1551C>G (p.Thr517=) c.1677C>G (p.Thr559=) c.1776C>G (p.Thr592=) c.109-31C>G (n.109-31C>G) c.990C>G (p.Thr330=) c.1927C>G c.1081C>G (n.1081C>G) n.387C>G c.1830C>G (p.Thr610=) c.1626C>G (p.Thr542=) c.1767C>G (p.Thr589=) c.1821C>G (p.Thr607=) c.1617C>G (p.Thr539=)
7	g.75986029C>T	CA456331499	POR	c.1551C>T (p.Thr517=) c.1677C>T (p.Thr559=) c.1776C>T (p.Thr592=) c.109-31C>T (n.109-31C>T) c.990C>T (p.Thr330=) c.1927C>T c.1081C>T (n.1081C>T) n.387C>T c.1830C>T (p.Thr610=) c.1626C>T (p.Thr542=) c.1767C>T (p.Thr589=) c.1821C>T (p.Thr607=) c.1617C>T (p.Thr539=)	gnomAD v4
7	g.75986029_75986036dup	CA4304275	POR	c.1551_1558dup (p.Asn520ThrfsTer21) c.1677_1684dup (p.Asn562ThrfsTer21) c.1776_1783dup (p.Asn595ThrfsTer21) c.109-31_109-24dup (n.109-31_109-24dup) c.990_997dup (p.Asn333ThrfsTer21) c.1927_1934dup c.1081_1088dup (n.1081_1088dup) n.387_394dup c.1830_1837dup (p.Asn613ThrfsTer21) c.1626_1633dup (p.Asn545ThrfsTer21) c.1767_1774dup (p.Asn592ThrfsTer21) c.1821_1828dup (p.Asn610ThrfsTer21) c.1617_1624dup (p.Asn542ThrfsTer21)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.75986030C>A	CA367750650	POR	c.1552C>A (p.Gln518Lys) c.1678C>A (p.Gln560Lys) c.1777C>A (p.Gln593Lys) c.109-30C>A (n.109-30C>A) c.991C>A (p.Gln331Lys) c.1928C>A c.1082C>A (n.1082C>A) n.388C>A c.1831C>A (p.Gln611Lys) c.1627C>A (p.Gln543Lys) c.1768C>A (p.Gln590Lys) c.1822C>A (p.Gln608Lys) c.1618C>A (p.Gln540Lys)	gnomAD v4
7	g.75986030C>G	CA367750651	POR	c.1552C>G (p.Gln518Glu) c.1678C>G (p.Gln560Glu) c.1777C>G (p.Gln593Glu) c.109-30C>G (n.109-30C>G) c.991C>G (p.Gln331Glu) c.1928C>G c.1082C>G (n.1082C>G) n.388C>G c.1831C>G (p.Gln611Glu) c.1627C>G (p.Gln543Glu) c.1768C>G (p.Gln590Glu) c.1822C>G (p.Gln608Glu) c.1618C>G (p.Gln540Glu)
7	g.75986030C>T	CA367750652	POR	c.1552C>T (p.Gln518Ter) c.1678C>T (p.Gln560Ter) c.1777C>T (p.Gln593Ter) c.109-30C>T (n.109-30C>T) c.991C>T (p.Gln331Ter) c.1928C>T c.1082C>T (n.1082C>T) n.388C>T c.1831C>T (p.Gln611Ter) c.1627C>T (p.Gln543Ter) c.1768C>T (p.Gln590Ter) c.1822C>T (p.Gln608Ter) c.1618C>T (p.Gln540Ter)
7	g.75986031A>C	CA367750654	POR	c.1553A>C (p.Gln518Pro) c.1679A>C (p.Gln560Pro) c.1778A>C (p.Gln593Pro) c.109-29A>C (n.109-29A>C) c.992A>C (p.Gln331Pro) c.1929A>C c.1083A>C (n.1083A>C) n.389A>C c.1832A>C (p.Gln611Pro) c.1628A>C (p.Gln543Pro) c.1769A>C (p.Gln590Pro) c.1823A>C (p.Gln608Pro) c.1619A>C (p.Gln540Pro)
7	g.75986031A>G	CA367750655	POR	c.1553A>G (p.Gln518Arg) c.1679A>G (p.Gln560Arg) c.1778A>G (p.Gln593Arg) c.109-29A>G (n.109-29A>G) c.992A>G (p.Gln331Arg) c.1929A>G c.1083A>G (n.1083A>G) n.389A>G c.1832A>G (p.Gln611Arg) c.1628A>G (p.Gln543Arg) c.1769A>G (p.Gln590Arg) c.1823A>G (p.Gln608Arg) c.1619A>G (p.Gln540Arg)
7	g.75986031A>T	CA367750653	POR	c.1553A>T (p.Gln518Leu) c.1679A>T (p.Gln560Leu) c.1778A>T (p.Gln593Leu) c.109-29A>T (n.109-29A>T) c.992A>T (p.Gln331Leu) c.1929A>T c.1083A>T (n.1083A>T) n.389A>T c.1832A>T (p.Gln611Leu) c.1628A>T (p.Gln543Leu) c.1769A>T (p.Gln590Leu) c.1823A>T (p.Gln608Leu) c.1619A>T (p.Gln540Leu)
7	g.75986032G>A	CA456331505	POR	c.1554G>A (p.Gln518=) c.1680G>A (p.Gln560=) c.1779G>A (p.Gln593=) c.109-28G>A (n.109-28G>A) c.993G>A (p.Gln331=) c.1930G>A c.1084G>A (n.1084G>A) n.390G>A c.1833G>A (p.Gln611=) c.1629G>A (p.Gln543=) c.1770G>A (p.Gln590=) c.1824G>A (p.Gln608=) c.1620G>A (p.Gln540=)
7	g.75986032G>C	CA367750656	POR	c.1554G>C (p.Gln518His) c.1680G>C (p.Gln560His) c.1779G>C (p.Gln593His) c.109-28G>C (n.109-28G>C) c.993G>C (p.Gln331His) c.1930G>C c.1084G>C (n.1084G>C) n.390G>C c.1833G>C (p.Gln611His) c.1629G>C (p.Gln543His) c.1770G>C (p.Gln590His) c.1824G>C (p.Gln608His) c.1620G>C (p.Gln540His)
7	g.75986032G=	CA1718180488	POR	c.1554G= (p.Gln518=) c.1680G= (p.Gln560=) c.1779G= (p.Gln593=) c.109-28G= (n.109-28G=) c.993G= (p.Gln331=) c.1930G= c.1084G= (n.1084G=) n.390G= c.1833G= (p.Gln611=) c.1629G= (p.Gln543=) c.1770G= (p.Gln590=) c.1824G= (p.Gln608=) c.1620G= (p.Gln540=)
7	g.75986032G>T	CA4304276	POR	c.1554G>T (p.Gln518His) c.1680G>T (p.Gln560His) c.1779G>T (p.Gln593His) c.109-28G>T (n.109-28G>T) c.993G>T (p.Gln331His) c.1930G>T c.1084G>T (n.1084G>T) n.390G>T c.1833G>T (p.Gln611His) c.1629G>T (p.Gln543His) c.1770G>T (p.Gln590His) c.1824G>T (p.Gln608His) c.1620G>T (p.Gln540His)	dbSNP ExAC gnomAD v4
7	g.75986033C>A	CA367750657	POR	c.1555C>A (p.Leu519Ile) c.1681C>A (p.Leu561Ile) c.1780C>A (p.Leu594Ile) c.109-27C>A (n.109-27C>A) c.994C>A (p.Leu332Ile) c.1931C>A c.1085C>A (n.1085C>A) n.391C>A c.1834C>A (p.Leu612Ile) c.1630C>A (p.Leu544Ile) c.1771C>A (p.Leu591Ile) c.1825C>A (p.Leu609Ile) c.1621C>A (p.Leu541Ile)
7	g.75986033C=	CA1718180489	POR	c.1555C= (p.Leu519=) c.1681C= (p.Leu561=) c.1780C= (p.Leu594=) c.109-27C= (n.109-27C=) c.994C= (p.Leu332=) c.1931C= c.1085C= (n.1085C=) n.391C= c.1834C= (p.Leu612=) c.1630C= (p.Leu544=) c.1771C= (p.Leu591=) c.1825C= (p.Leu609=) c.1621C= (p.Leu541=)
7	g.75986033C>G	CA4304277	POR	c.1555C>G (p.Leu519Val) c.1681C>G (p.Leu561Val) c.1780C>G (p.Leu594Val) c.109-27C>G (n.109-27C>G) c.994C>G (p.Leu332Val) c.1931C>G c.1085C>G (n.1085C>G) n.391C>G c.1834C>G (p.Leu612Val) c.1630C>G (p.Leu544Val) c.1771C>G (p.Leu591Val) c.1825C>G (p.Leu609Val) c.1621C>G (p.Leu541Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986033C>T	CA367750658	POR	c.1555C>T (p.Leu519Phe) c.1681C>T (p.Leu561Phe) c.1780C>T (p.Leu594Phe) c.109-27C>T (n.109-27C>T) c.994C>T (p.Leu332Phe) c.1931C>T c.1085C>T (n.1085C>T) n.391C>T c.1834C>T (p.Leu612Phe) c.1630C>T (p.Leu544Phe) c.1771C>T (p.Leu591Phe) c.1825C>T (p.Leu609Phe) c.1621C>T (p.Leu541Phe)
7	g.75986034T>A	CA367750661	POR	c.1556T>A (p.Leu519His) c.1682T>A (p.Leu561His) c.1781T>A (p.Leu594His) c.109-26T>A (n.109-26T>A) c.995T>A (p.Leu332His) c.1932T>A c.1086T>A (n.1086T>A) n.392T>A c.1835T>A (p.Leu612His) c.1631T>A (p.Leu544His) c.1772T>A (p.Leu591His) c.1826T>A (p.Leu609His) c.1622T>A (p.Leu541His)
7	g.75986034T>C	CA367750659	POR	c.1556T>C (p.Leu519Pro) c.1682T>C (p.Leu561Pro) c.1781T>C (p.Leu594Pro) c.109-26T>C (n.109-26T>C) c.995T>C (p.Leu332Pro) c.1932T>C c.1086T>C (n.1086T>C) n.392T>C c.1835T>C (p.Leu612Pro) c.1631T>C (p.Leu544Pro) c.1772T>C (p.Leu591Pro) c.1826T>C (p.Leu609Pro) c.1622T>C (p.Leu541Pro)
7	g.75986034T>G	CA367750660	POR	c.1556T>G (p.Leu519Arg) c.1682T>G (p.Leu561Arg) c.1781T>G (p.Leu594Arg) c.109-26T>G (n.109-26T>G) c.995T>G (p.Leu332Arg) c.1932T>G c.1086T>G (n.1086T>G) n.392T>G c.1835T>G (p.Leu612Arg) c.1631T>G (p.Leu544Arg) c.1772T>G (p.Leu591Arg) c.1826T>G (p.Leu609Arg) c.1622T>G (p.Leu541Arg)
7	g.75986035C>A	CA456331511	POR	c.1557C>A (p.Leu519=) c.1683C>A (p.Leu561=) c.1782C>A (p.Leu594=) c.109-25C>A (n.109-25C>A) c.996C>A (p.Leu332=) c.1933C>A c.1087C>A (n.1087C>A) n.393C>A c.1836C>A (p.Leu612=) c.1632C>A (p.Leu544=) c.1773C>A (p.Leu591=) c.1827C>A (p.Leu609=) c.1623C>A (p.Leu541=)
7	g.75986035C>G	CA456331512	POR	c.1557C>G (p.Leu519=) c.1683C>G (p.Leu561=) c.1782C>G (p.Leu594=) c.109-25C>G (n.109-25C>G) c.996C>G (p.Leu332=) c.1933C>G c.1087C>G (n.1087C>G) n.393C>G c.1836C>G (p.Leu612=) c.1632C>G (p.Leu544=) c.1773C>G (p.Leu591=) c.1827C>G (p.Leu609=) c.1623C>G (p.Leu541=)
7	g.75986035C>T	CA456331513	POR	c.1557C>T (p.Leu519=) c.1683C>T (p.Leu561=) c.1782C>T (p.Leu594=) c.109-25C>T (n.109-25C>T) c.996C>T (p.Leu332=) c.1933C>T c.1087C>T (n.1087C>T) n.393C>T c.1836C>T (p.Leu612=) c.1632C>T (p.Leu544=) c.1773C>T (p.Leu591=) c.1827C>T (p.Leu609=) c.1623C>T (p.Leu541=)	ClinVar
7	g.75986036A=	CA1718180490	POR	c.1558A= (p.Asn520=) c.1684A= (p.Asn562=) c.1783A= (p.Asn595=) c.109-24A= (n.109-24A=) c.997A= (p.Asn333=) c.1934A= c.1088A= (n.1088A=) n.394A= c.1837A= (p.Asn613=) c.1633A= (p.Asn545=) c.1774A= (p.Asn592=) c.1828A= (p.Asn610=) c.1624A= (p.Asn542=)
7	g.75986036A>C	CA367750662	POR	c.1558A>C (p.Asn520His) c.1684A>C (p.Asn562His) c.1783A>C (p.Asn595His) c.109-24A>C (n.109-24A>C) c.997A>C (p.Asn333His) c.1934A>C c.1088A>C (n.1088A>C) n.394A>C c.1837A>C (p.Asn613His) c.1633A>C (p.Asn545His) c.1774A>C (p.Asn592His) c.1828A>C (p.Asn610His) c.1624A>C (p.Asn542His)
7	g.75986036A>G	CA367750663	POR	c.1558A>G (p.Asn520Asp) c.1684A>G (p.Asn562Asp) c.1783A>G (p.Asn595Asp) c.109-24A>G (n.109-24A>G) c.997A>G (p.Asn333Asp) c.1934A>G c.1088A>G (n.1088A>G) n.394A>G c.1837A>G (p.Asn613Asp) c.1633A>G (p.Asn545Asp) c.1774A>G (p.Asn592Asp) c.1828A>G (p.Asn610Asp) c.1624A>G (p.Asn542Asp)	gnomAD v4
7	g.75986036A>T	CA367750664	POR	c.1558A>T (p.Asn520Tyr) c.1684A>T (p.Asn562Tyr) c.1783A>T (p.Asn595Tyr) c.109-24A>T (n.109-24A>T) c.997A>T (p.Asn333Tyr) c.1934A>T c.1088A>T (n.1088A>T) n.394A>T c.1837A>T (p.Asn613Tyr) c.1633A>T (p.Asn545Tyr) c.1774A>T (p.Asn592Tyr) c.1828A>T (p.Asn610Tyr) c.1624A>T (p.Asn542Tyr)	dbSNP gnomAD v2 gnomAD v4
7	g.75986037A=	CA1718180491	POR	c.1559A= (p.Asn520=) c.1685A= (p.Asn562=) c.1784A= (p.Asn595=) c.109-23A= (n.109-23A=) c.998A= (p.Asn333=) c.1935A= c.1089A= (n.1089A=) n.395A= c.1838A= (p.Asn613=) c.1634A= (p.Asn545=) c.1775A= (p.Asn592=) c.1829A= (p.Asn610=) c.1625A= (p.Asn542=)
7	g.75986037A>C	CA367750665	POR	c.1559A>C (p.Asn520Thr) c.1685A>C (p.Asn562Thr) c.1784A>C (p.Asn595Thr) c.109-23A>C (n.109-23A>C) c.998A>C (p.Asn333Thr) c.1935A>C c.1089A>C (n.1089A>C) n.395A>C c.1838A>C (p.Asn613Thr) c.1634A>C (p.Asn545Thr) c.1775A>C (p.Asn592Thr) c.1829A>C (p.Asn610Thr) c.1625A>C (p.Asn542Thr)
7	g.75986037A>G	CA367750666	POR	c.1559A>G (p.Asn520Ser) c.1685A>G (p.Asn562Ser) c.1784A>G (p.Asn595Ser) c.109-23A>G (n.109-23A>G) c.998A>G (p.Asn333Ser) c.1935A>G c.1089A>G (n.1089A>G) n.395A>G c.1838A>G (p.Asn613Ser) c.1634A>G (p.Asn545Ser) c.1775A>G (p.Asn592Ser) c.1829A>G (p.Asn610Ser) c.1625A>G (p.Asn542Ser)	dbSNP gnomAD v2
7	g.75986037A>T	CA367750667	POR	c.1559A>T (p.Asn520Ile) c.1685A>T (p.Asn562Ile) c.1784A>T (p.Asn595Ile) c.109-23A>T (n.109-23A>T) c.998A>T (p.Asn333Ile) c.1935A>T c.1089A>T (n.1089A>T) n.395A>T c.1838A>T (p.Asn613Ile) c.1634A>T (p.Asn545Ile) c.1775A>T (p.Asn592Ile) c.1829A>T (p.Asn610Ile) c.1625A>T (p.Asn542Ile)
7	g.75986038C>A	CA367750668	POR	c.1560C>A (p.Asn520Lys) c.1686C>A (p.Asn562Lys) c.1785C>A (p.Asn595Lys) c.109-22C>A (n.109-22C>A) c.999C>A (p.Asn333Lys) c.1936C>A c.1090C>A (n.1090C>A) n.396C>A c.1839C>A (p.Asn613Lys) c.1635C>A (p.Asn545Lys) c.1776C>A (p.Asn592Lys) c.1830C>A (p.Asn610Lys) c.1626C>A (p.Asn542Lys)
7	g.75986038C=	CA1718180492	POR	c.1560C= (p.Asn520=) c.1686C= (p.Asn562=) c.1785C= (p.Asn595=) c.109-22C= (n.109-22C=) c.999C= (p.Asn333=) c.1936C= c.1090C= (n.1090C=) n.396C= c.1839C= (p.Asn613=) c.1635C= (p.Asn545=) c.1776C= (p.Asn592=) c.1830C= (p.Asn610=) c.1626C= (p.Asn542=)
7	g.75986038C>G	CA367750669	POR	c.1560C>G (p.Asn520Lys) c.1686C>G (p.Asn562Lys) c.1785C>G (p.Asn595Lys) c.109-22C>G (n.109-22C>G) c.999C>G (p.Asn333Lys) c.1936C>G c.1090C>G (n.1090C>G) n.396C>G c.1839C>G (p.Asn613Lys) c.1635C>G (p.Asn545Lys) c.1776C>G (p.Asn592Lys) c.1830C>G (p.Asn610Lys) c.1626C>G (p.Asn542Lys)	ClinVar
7	g.75986038C>T	CA4304278	POR	c.1560C>T (p.Asn520=) c.1686C>T (p.Asn562=) c.1785C>T (p.Asn595=) c.109-22C>T (n.109-22C>T) c.999C>T (p.Asn333=) c.1936C>T c.1090C>T (n.1090C>T) n.396C>T c.1839C>T (p.Asn613=) c.1635C>T (p.Asn545=) c.1776C>T (p.Asn592=) c.1830C>T (p.Asn610=) c.1626C>T (p.Asn542=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7	g.75986039G>A	CA367750670	POR	c.1561G>A (p.Val521Met) c.1687G>A (p.Val563Met) c.1786G>A (p.Val596Met) c.109-21G>A (n.109-21G>A) c.1000G>A (p.Val334Met) c.1937G>A c.1091G>A (n.1091G>A) n.397G>A c.1840G>A (p.Val614Met) c.1636G>A (p.Val546Met) c.1777G>A (p.Val593Met) c.1831G>A (p.Val611Met) c.1627G>A (p.Val543Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986039G>C	CA367750672	POR	c.1561G>C (p.Val521Leu) c.1687G>C (p.Val563Leu) c.1786G>C (p.Val596Leu) c.109-21G>C (n.109-21G>C) c.1000G>C (p.Val334Leu) c.1937G>C c.1091G>C (n.1091G>C) n.397G>C c.1840G>C (p.Val614Leu) c.1636G>C (p.Val546Leu) c.1777G>C (p.Val593Leu) c.1831G>C (p.Val611Leu) c.1627G>C (p.Val543Leu)	gnomAD v4
7	g.75986039G=	CA1718180493	POR	c.1561G= (p.Val521=) c.1687G= (p.Val563=) c.1786G= (p.Val596=) c.109-21G= (n.109-21G=) c.1000G= (p.Val334=) c.1937G= c.1091G= (n.1091G=) n.397G= c.1840G= (p.Val614=) c.1636G= (p.Val546=) c.1777G= (p.Val593=) c.1831G= (p.Val611=) c.1627G= (p.Val543=)
7	g.75986039G>T	CA367750671	POR	c.1561G>T (p.Val521Leu) c.1687G>T (p.Val563Leu) c.1786G>T (p.Val596Leu) c.109-21G>T (n.109-21G>T) c.1000G>T (p.Val334Leu) c.1937G>T c.1091G>T (n.1091G>T) n.397G>T c.1840G>T (p.Val614Leu) c.1636G>T (p.Val546Leu) c.1777G>T (p.Val593Leu) c.1831G>T (p.Val611Leu) c.1627G>T (p.Val543Leu)
7	g.75986040T>A	CA367750673	POR	c.1562T>A (p.Val521Glu) c.1688T>A (p.Val563Glu) c.1787T>A (p.Val596Glu) c.109-20T>A (n.109-20T>A) c.1001T>A (p.Val334Glu) c.1938T>A c.1092T>A (n.1092T>A) n.398T>A c.1841T>A (p.Val614Glu) c.1637T>A (p.Val546Glu) c.1778T>A (p.Val593Glu) c.1832T>A (p.Val611Glu) c.1628T>A (p.Val543Glu)
7	g.75986040T>C	CA367750674	POR	c.1562T>C (p.Val521Ala) c.1688T>C (p.Val563Ala) c.1787T>C (p.Val596Ala) c.109-20T>C (n.109-20T>C) c.1001T>C (p.Val334Ala) c.1938T>C c.1092T>C (n.1092T>C) n.398T>C c.1841T>C (p.Val614Ala) c.1637T>C (p.Val546Ala) c.1778T>C (p.Val593Ala) c.1832T>C (p.Val611Ala) c.1628T>C (p.Val543Ala)	dbSNP gnomAD v2 gnomAD v4
7	g.75986040T>G	CA367750675	POR	c.1562T>G (p.Val521Gly) c.1688T>G (p.Val563Gly) c.1787T>G (p.Val596Gly) c.109-20T>G (n.109-20T>G) c.1001T>G (p.Val334Gly) c.1938T>G c.1092T>G (n.1092T>G) n.398T>G c.1841T>G (p.Val614Gly) c.1637T>G (p.Val546Gly) c.1778T>G (p.Val593Gly) c.1832T>G (p.Val611Gly) c.1628T>G (p.Val543Gly)	gnomAD v4
7	g.75986040T=	CA1718180494	POR	c.1562T= (p.Val521=) c.1688T= (p.Val563=) c.1787T= (p.Val596=) c.109-20T= (n.109-20T=) c.1001T= (p.Val334=) c.1938T= c.1092T= (n.1092T=) n.398T= c.1841T= (p.Val614=) c.1637T= (p.Val546=) c.1778T= (p.Val593=) c.1832T= (p.Val611=) c.1628T= (p.Val543=)
7	g.75986041G>A	CA456331518	POR	c.1563G>A (p.Val521=) c.1689G>A (p.Val563=) c.1788G>A (p.Val596=) c.109-19G>A (n.109-19G>A) c.1002G>A (p.Val334=) c.1939G>A c.1093G>A (n.1093G>A) n.399G>A c.1842G>A (p.Val614=) c.1638G>A (p.Val546=) c.1779G>A (p.Val593=) c.1833G>A (p.Val611=) c.1629G>A (p.Val543=)	gnomAD v4
7	g.75986041G>C	CA456331521	POR	c.1563G>C (p.Val521=) c.1689G>C (p.Val563=) c.1788G>C (p.Val596=) c.109-19G>C (n.109-19G>C) c.1002G>C (p.Val334=) c.1939G>C c.1093G>C (n.1093G>C) n.399G>C c.1842G>C (p.Val614=) c.1638G>C (p.Val546=) c.1779G>C (p.Val593=) c.1833G>C (p.Val611=) c.1629G>C (p.Val543=)
7	g.75986041G>T	CA456331522	POR	c.1563G>T (p.Val521=) c.1689G>T (p.Val563=) c.1788G>T (p.Val596=) c.109-19G>T (n.109-19G>T) c.1002G>T (p.Val334=) c.1939G>T c.1093G>T (n.1093G>T) n.399G>T c.1842G>T (p.Val614=) c.1638G>T (p.Val546=) c.1779G>T (p.Val593=) c.1833G>T (p.Val611=) c.1629G>T (p.Val543=)
7	g.75986042G>A	CA367750676	POR	c.1564G>A (p.Ala522Thr) c.1690G>A (p.Ala564Thr) c.1789G>A (p.Ala597Thr) c.109-18G>A (n.109-18G>A) c.1003G>A (p.Ala335Thr) c.1940G>A c.1094G>A (n.1094G>A) n.400G>A c.1843G>A (p.Ala615Thr) c.1639G>A (p.Ala547Thr) c.1780G>A (p.Ala594Thr) c.1834G>A (p.Ala612Thr) c.1630G>A (p.Ala544Thr)
7	g.75986042G>C	CA367750677	POR	c.1564G>C (p.Ala522Pro) c.1690G>C (p.Ala564Pro) c.1789G>C (p.Ala597Pro) c.109-18G>C (n.109-18G>C) c.1003G>C (p.Ala335Pro) c.1940G>C c.1094G>C (n.1094G>C) n.400G>C c.1843G>C (p.Ala615Pro) c.1639G>C (p.Ala547Pro) c.1780G>C (p.Ala594Pro) c.1834G>C (p.Ala612Pro) c.1630G>C (p.Ala544Pro)	gnomAD v4
7	g.75986042G>T	CA367750678	POR	c.1564G>T (p.Ala522Ser) c.1690G>T (p.Ala564Ser) c.1789G>T (p.Ala597Ser) c.109-18G>T (n.109-18G>T) c.1003G>T (p.Ala335Ser) c.1940G>T c.1094G>T (n.1094G>T) n.400G>T c.1843G>T (p.Ala615Ser) c.1639G>T (p.Ala547Ser) c.1780G>T (p.Ala594Ser) c.1834G>T (p.Ala612Ser) c.1630G>T (p.Ala544Ser)
7	g.75986043C>A	CA367750679	POR	c.1565C>A (p.Ala522Asp) c.1691C>A (p.Ala564Asp) c.1790C>A (p.Ala597Asp) c.109-17C>A (n.109-17C>A) c.1004C>A (p.Ala335Asp) c.1941C>A c.1095C>A (n.1095C>A) n.401C>A c.1844C>A (p.Ala615Asp) c.1640C>A (p.Ala547Asp) c.1781C>A (p.Ala594Asp) c.1835C>A (p.Ala612Asp) c.1631C>A (p.Ala544Asp)	gnomAD v4
7	g.75986043C=	CA1718180496	POR	c.1565C= (p.Ala522=) c.1691C= (p.Ala564=) c.1790C= (p.Ala597=) c.109-17C= (n.109-17C=) c.1004C= (p.Ala335=) c.1941C= c.1095C= (n.1095C=) n.401C= c.1844C= (p.Ala615=) c.1640C= (p.Ala547=) c.1781C= (p.Ala594=) c.1835C= (p.Ala612=) c.1631C= (p.Ala544=)
7	g.75986043C>G	CA367750680	POR	c.1565C>G (p.Ala522Gly) c.1691C>G (p.Ala564Gly) c.1790C>G (p.Ala597Gly) c.109-17C>G (n.109-17C>G) c.1004C>G (p.Ala335Gly) c.1941C>G c.1095C>G (n.1095C>G) n.401C>G c.1844C>G (p.Ala615Gly) c.1640C>G (p.Ala547Gly) c.1781C>G (p.Ala594Gly) c.1835C>G (p.Ala612Gly) c.1631C>G (p.Ala544Gly)
7	g.75986043C>T	CA160909887	POR	c.1565C>T (p.Ala522Val) c.1691C>T (p.Ala564Val) c.1790C>T (p.Ala597Val) c.109-17C>T (n.109-17C>T) c.1004C>T (p.Ala335Val) c.1941C>T c.1095C>T (n.1095C>T) n.401C>T c.1844C>T (p.Ala615Val) c.1640C>T (p.Ala547Val) c.1781C>T (p.Ala594Val) c.1835C>T (p.Ala612Val) c.1631C>T (p.Ala544Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986043_75986046delinsCCTT	CA1718180495	POR	c.1565_1568delinsCCTT (p.Ala522=) c.1691_1694delinsCCTT (p.Ala564=) c.1790_1793delinsCCTT (p.Ala597=) c.109-17_109-14delinsCCTT (n.109-17_109-14delinsCCTT) c.1004_1007delinsCCTT (p.Ala335=) c.1941_1944delinsCCTT c.1095_1098delinsCCTT (n.1095_1098delinsCCTT) n.401_404delinsCCTT c.1844_1847delinsCCTT (p.Ala615=) c.1640_1643delinsCCTT (p.Ala547=) c.1781_1784delinsCCTT (p.Ala594=) c.1835_1838delinsCCTT (p.Ala612=) c.1631_1634delinsCCTT (p.Ala544=)
7	g.75986044C>A	CA456331526	POR	c.1566C>A (p.Ala522=) c.1692C>A (p.Ala564=) c.1791C>A (p.Ala597=) c.109-16C>A (n.109-16C>A) c.1005C>A (p.Ala335=) c.1942C>A c.1096C>A (n.1096C>A) n.402C>A c.1845C>A (p.Ala615=) c.1641C>A (p.Ala547=) c.1782C>A (p.Ala594=) c.1836C>A (p.Ala612=) c.1632C>A (p.Ala544=)	gnomAD v4
7	g.75986044C=	CA1718180497	POR	c.1566C= (p.Ala522=) c.1692C= (p.Ala564=) c.1791C= (p.Ala597=) c.109-16C= (n.109-16C=) c.1005C= (p.Ala335=) c.1942C= c.1096C= (n.1096C=) n.402C= c.1845C= (p.Ala615=) c.1641C= (p.Ala547=) c.1782C= (p.Ala594=) c.1836C= (p.Ala612=) c.1632C= (p.Ala544=)
7	g.75986044C>G	CA456331527	POR	c.1566C>G (p.Ala522=) c.1692C>G (p.Ala564=) c.1791C>G (p.Ala597=) c.109-16C>G (n.109-16C>G) c.1005C>G (p.Ala335=) c.1942C>G c.1096C>G (n.1096C>G) n.402C>G c.1845C>G (p.Ala615=) c.1641C>G (p.Ala547=) c.1782C>G (p.Ala594=) c.1836C>G (p.Ala612=) c.1632C>G (p.Ala544=)
7	g.75986044C>T	CA456331525	POR	c.1566C>T (p.Ala522=) c.1692C>T (p.Ala564=) c.1791C>T (p.Ala597=) c.109-16C>T (n.109-16C>T) c.1005C>T (p.Ala335=) c.1942C>T c.1096C>T (n.1096C>T) n.402C>T c.1845C>T (p.Ala615=) c.1641C>T (p.Ala547=) c.1782C>T (p.Ala594=) c.1836C>T (p.Ala612=) c.1632C>T (p.Ala544=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.75986046_75986048del	CA4304279	POR	c.1568_1570del (p.Phe523del) c.1694_1696del (p.Phe565del) c.1793_1795del (p.Phe598del) c.109-14_109-12del (n.109-14_109-12del) c.1007_1009del (p.Phe336del) c.1944_1946del c.1098_1100del (n.1098_1100del) n.404_406del c.1847_1849del (p.Phe616del) c.1643_1645del (p.Phe548del) c.1784_1786del (p.Phe595del) c.1838_1840del (p.Phe613del) c.1634_1636del (p.Phe545del)	dbSNP ExAC gnomAD v3 gnomAD v4
7	g.75986045T>A	CA367750681	POR	c.1567T>A (p.Phe523Ile) c.1693T>A (p.Phe565Ile) c.1792T>A (p.Phe598Ile) c.109-15T>A (n.109-15T>A) c.1006T>A (p.Phe336Ile) c.1943T>A c.1097T>A (n.1097T>A) n.403T>A c.1846T>A (p.Phe616Ile) c.1642T>A (p.Phe548Ile) c.1783T>A (p.Phe595Ile) c.1837T>A (p.Phe613Ile) c.1633T>A (p.Phe545Ile)
7	g.75986045T>C	CA367750682	POR	c.1567T>C (p.Phe523Leu) c.1693T>C (p.Phe565Leu) c.1792T>C (p.Phe598Leu) c.109-15T>C (n.109-15T>C) c.1006T>C (p.Phe336Leu) c.1943T>C c.1097T>C (n.1097T>C) n.403T>C c.1846T>C (p.Phe616Leu) c.1642T>C (p.Phe548Leu) c.1783T>C (p.Phe595Leu) c.1837T>C (p.Phe613Leu) c.1633T>C (p.Phe545Leu)
7	g.75986045T>G	CA367750683	POR	c.1567T>G (p.Phe523Val) c.1693T>G (p.Phe565Val) c.1792T>G (p.Phe598Val) c.109-15T>G (n.109-15T>G) c.1006T>G (p.Phe336Val) c.1943T>G c.1097T>G (n.1097T>G) n.403T>G c.1846T>G (p.Phe616Val) c.1642T>G (p.Phe548Val) c.1783T>G (p.Phe595Val) c.1837T>G (p.Phe613Val) c.1633T>G (p.Phe545Val)	dbSNP gnomAD v3 gnomAD v4
7	g.75986045T=	CA1718180498	POR	c.1567T= (p.Phe523=) c.1693T= (p.Phe565=) c.1792T= (p.Phe598=) c.109-15T= (n.109-15T=) c.1006T= (p.Phe336=) c.1943T= c.1097T= (n.1097T=) n.403T= c.1846T= (p.Phe616=) c.1642T= (p.Phe548=) c.1783T= (p.Phe595=) c.1837T= (p.Phe613=) c.1633T= (p.Phe545=)
7	g.75986046T>A	CA367750686	POR	c.1568T>A (p.Phe523Tyr) c.1694T>A (p.Phe565Tyr) c.1793T>A (p.Phe598Tyr) c.109-14T>A (n.109-14T>A) c.1007T>A (p.Phe336Tyr) c.1944T>A c.1098T>A (n.1098T>A) n.404T>A c.1847T>A (p.Phe616Tyr) c.1643T>A (p.Phe548Tyr) c.1784T>A (p.Phe595Tyr) c.1838T>A (p.Phe613Tyr) c.1634T>A (p.Phe545Tyr)
7	g.75986046T>C	CA367750684	POR	c.1568T>C (p.Phe523Ser) c.1694T>C (p.Phe565Ser) c.1793T>C (p.Phe598Ser) c.109-14T>C (n.109-14T>C) c.1007T>C (p.Phe336Ser) c.1944T>C c.1098T>C (n.1098T>C) n.404T>C c.1847T>C (p.Phe616Ser) c.1643T>C (p.Phe548Ser) c.1784T>C (p.Phe595Ser) c.1838T>C (p.Phe613Ser) c.1634T>C (p.Phe545Ser)	dbSNP gnomAD v3 gnomAD v4
7	g.75986046T>G	CA367750685	POR	c.1568T>G (p.Phe523Cys) c.1694T>G (p.Phe565Cys) c.1793T>G (p.Phe598Cys) c.109-14T>G (n.109-14T>G) c.1007T>G (p.Phe336Cys) c.1944T>G c.1098T>G (n.1098T>G) n.404T>G c.1847T>G (p.Phe616Cys) c.1643T>G (p.Phe548Cys) c.1784T>G (p.Phe595Cys) c.1838T>G (p.Phe613Cys) c.1634T>G (p.Phe545Cys)
7	g.75986046T=	CA1718180499	POR	c.1568T= (p.Phe523=) c.1694T= (p.Phe565=) c.1793T= (p.Phe598=) c.109-14T= (n.109-14T=) c.1007T= (p.Phe336=) c.1944T= c.1098T= (n.1098T=) n.404T= c.1847T= (p.Phe616=) c.1643T= (p.Phe548=) c.1784T= (p.Phe595=) c.1838T= (p.Phe613=) c.1634T= (p.Phe545=)
7	g.75986047C>A	CA367750687	POR	c.1569C>A (p.Phe523Leu) c.1695C>A (p.Phe565Leu) c.1794C>A (p.Phe598Leu) c.109-13C>A (n.109-13C>A) c.1008C>A (p.Phe336Leu) c.1945C>A c.1099C>A (n.1099C>A) n.405C>A c.1848C>A (p.Phe616Leu) c.1644C>A (p.Phe548Leu) c.1785C>A (p.Phe595Leu) c.1839C>A (p.Phe613Leu) c.1635C>A (p.Phe545Leu)	gnomAD v4
7	g.75986047C=	CA1718180500	POR	c.1569C= (p.Phe523=) c.1695C= (p.Phe565=) c.1794C= (p.Phe598=) c.109-13C= (n.109-13C=) c.1008C= (p.Phe336=) c.1945C= c.1099C= (n.1099C=) n.405C= c.1848C= (p.Phe616=) c.1644C= (p.Phe548=) c.1785C= (p.Phe595=) c.1839C= (p.Phe613=) c.1635C= (p.Phe545=)
7	g.75986047C>G	CA367750688	POR	c.1569C>G (p.Phe523Leu) c.1695C>G (p.Phe565Leu) c.1794C>G (p.Phe598Leu) c.109-13C>G (n.109-13C>G) c.1008C>G (p.Phe336Leu) c.1945C>G c.1099C>G (n.1099C>G) n.405C>G c.1848C>G (p.Phe616Leu) c.1644C>G (p.Phe548Leu) c.1785C>G (p.Phe595Leu) c.1839C>G (p.Phe613Leu) c.1635C>G (p.Phe545Leu)
7	g.75986047C>T	CA456331529	POR	c.1569C>T (p.Phe523=) c.1695C>T (p.Phe565=) c.1794C>T (p.Phe598=) c.109-13C>T (n.109-13C>T) c.1008C>T (p.Phe336=) c.1945C>T c.1099C>T (n.1099C>T) n.405C>T c.1848C>T (p.Phe616=) c.1644C>T (p.Phe548=) c.1785C>T (p.Phe595=) c.1839C>T (p.Phe613=) c.1635C>T (p.Phe545=)	ClinVar dbSNP gnomAD v4

Number of alleles fetched