Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.142874338G>ACA2579268082CYP11B1,GMLc.*35C>T (n.*35C>T)
n.1744C>T
c.581C>T (n.581C>T)
c.181+33113G>A (n.181+33113G>A)
c.1785C>T (p.His595=)
c.1716C>T (p.His572=)
c.1707C>T (p.His569=)
c.1524C>T (p.His508=)
c.214+33113G>A (n.214+33113G>A)
 gnomAD v4
8g.142874339T>GCA1825495747CYP11B1,GMLc.*34A>C (n.*34A>C)
n.1743A>C
c.580A>C (n.580A>C)
c.181+33114T>G (n.181+33114T>G)
c.1784A>C (p.His595Pro)
c.1715A>C (p.His572Pro)
c.1706A>C (p.His569Pro)
c.1523A>C (p.His508Pro)
c.214+33114T>G (n.214+33114T>G)
 dbSNP
8g.142874339T=CA1825495746CYP11B1,GMLc.*34A= (n.*34A=)
n.1743A=
c.580A= (n.580A=)
c.181+33114T= (n.181+33114T=)
c.1784A= (p.His595=)
c.1715A= (p.His572=)
c.1706A= (p.His569=)
c.1523A= (p.His508=)
c.214+33114T= (n.214+33114T=)
8g.142874340G>TCA2579268083CYP11B1,GMLc.*33C>A (n.*33C>A)
n.1742C>A
c.579C>A (n.579C>A)
c.181+33115G>T (n.181+33115G>T)
c.1783C>A (p.His595Asn)
c.1714C>A (p.His572Asn)
c.1705C>A (p.His569Asn)
c.1522C>A (p.His508Asn)
c.214+33115G>T (n.214+33115G>T)
8g.142874341G>ACA2688872818CYP11B1,GMLc.*32C>T (n.*32C>T)
n.1741C>T
c.578C>T (n.578C>T)
c.181+33116G>A (n.181+33116G>A)
c.1782C>T (p.Gly594=)
c.1713C>T (p.Gly571=)
c.1704C>T (p.Gly568=)
c.1521C>T (p.Gly507=)
c.214+33116G>A (n.214+33116G>A)
 gnomAD v4
8g.142874341G>TCA2579268084CYP11B1,GMLc.*32C>A (n.*32C>A)
n.1741C>A
c.578C>A (n.578C>A)
c.181+33116G>T (n.181+33116G>T)
c.1782C>A (p.Gly594=)
c.1713C>A (p.Gly571=)
c.1704C>A (p.Gly568=)
c.1521C>A (p.Gly507=)
c.214+33116G>T (n.214+33116G>T)
 gnomAD v4
8g.142874342C>ACA2688872819CYP11B1,GMLc.*31G>T (n.*31G>T)
n.1740G>T
c.577G>T (n.577G>T)
c.181+33117C>A (n.181+33117C>A)
c.1781G>T (p.Gly594Val)
c.1712G>T (p.Gly571Val)
c.1703G>T (p.Gly568Val)
c.1520G>T (p.Gly507Val)
c.214+33117C>A (n.214+33117C>A)
 gnomAD v4
8g.142874342C>TCA2688872820CYP11B1,GMLc.*31G>A (n.*31G>A)
n.1740G>A
c.577G>A (n.577G>A)
c.181+33117C>T (n.181+33117C>T)
c.1781G>A (p.Gly594Asp)
c.1712G>A (p.Gly571Asp)
c.1703G>A (p.Gly568Asp)
c.1520G>A (p.Gly507Asp)
c.214+33117C>T (n.214+33117C>T)
 gnomAD v4
8g.142874346G>ACA585384335CYP11B1,GMLc.*27C>T (n.*27C>T)
n.1736C>T
c.573C>T (n.573C>T)
c.181+33121G>A (n.181+33121G>A)
c.1777C>T (p.Pro593Ser)
c.1708C>T (p.Pro570Ser)
c.1699C>T (p.Pro567Ser)
c.1516C>T (p.Pro506Ser)
c.214+33121G>A (n.214+33121G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.142874346G>CCA2718459501CYP11B1,GMLc.*27C>G (n.*27C>G)
n.1736C>G
c.573C>G (n.573C>G)
c.181+33121G>C (n.181+33121G>C)
c.1777C>G (p.Pro593Ala)
c.1708C>G (p.Pro570Ala)
c.1699C>G (p.Pro567Ala)
c.1516C>G (p.Pro506Ala)
c.214+33121G>C (n.214+33121G>C)
 dbSNP
8g.142874346G=CA1825495748CYP11B1,GMLc.*27C= (n.*27C=)
n.1736C=
c.573C= (n.573C=)
c.181+33121G= (n.181+33121G=)
c.1777C= (p.Pro593=)
c.1708C= (p.Pro570=)
c.1699C= (p.Pro567=)
c.1516C= (p.Pro506=)
c.214+33121G= (n.214+33121G=)
8g.142874346G>TCA2688872821CYP11B1,GMLc.*27C>A (n.*27C>A)
n.1736C>A
c.573C>A (n.573C>A)
c.181+33121G>T (n.181+33121G>T)
c.1777C>A (p.Pro593Thr)
c.1708C>A (p.Pro570Thr)
c.1699C>A (p.Pro567Thr)
c.1516C>A (p.Pro506Thr)
c.214+33121G>T (n.214+33121G>T)
 gnomAD v4
8g.142874347C>TCA2688872822CYP11B1,GMLc.*26G>A (n.*26G>A)
n.1735G>A
c.572G>A (n.572G>A)
c.181+33122C>T (n.181+33122C>T)
c.1776G>A (p.Gln592=)
c.1707G>A (p.Gln569=)
c.1698G>A (p.Gln566=)
c.1515G>A (p.Gln505=)
c.214+33122C>T (n.214+33122C>T)
 gnomAD v4
8g.142874349G=CA1825495749CYP11B1,GMLc.*24C= (n.*24C=)
n.1733C=
c.570C= (n.570C=)
c.181+33124G= (n.181+33124G=)
c.1774C= (p.Gln592=)
c.1705C= (p.Gln569=)
c.1696C= (p.Gln566=)
c.1513C= (p.Gln505=)
c.214+33124G= (n.214+33124G=)
8g.142874349G>TCA187459972CYP11B1,GMLc.*24C>A (n.*24C>A)
n.1733C>A
c.570C>A (n.570C>A)
c.181+33124G>T (n.181+33124G>T)
c.1774C>A (p.Gln592Lys)
c.1705C>A (p.Gln569Lys)
c.1696C>A (p.Gln566Lys)
c.1513C>A (p.Gln505Lys)
c.214+33124G>T (n.214+33124G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.142874350G>ACA2688872823CYP11B1,GMLc.*23C>T (n.*23C>T)
n.1732C>T
c.569C>T (n.569C>T)
c.181+33125G>A (n.181+33125G>A)
c.1773C>T (p.Ser591=)
c.1704C>T (p.Ser568=)
c.1695C>T (p.Ser565=)
c.1512C>T (p.Ser504=)
c.214+33125G>A (n.214+33125G>A)
 gnomAD v4
8g.142874351G>ACA2688872824CYP11B1,GMLc.*22C>T (n.*22C>T)
n.1731C>T
c.568C>T (n.568C>T)
c.181+33126G>A (n.181+33126G>A)
c.1772C>T (p.Ser591Phe)
c.1703C>T (p.Ser568Phe)
c.1694C>T (p.Ser565Phe)
c.1511C>T (p.Ser504Phe)
c.214+33126G>A (n.214+33126G>A)
 gnomAD v4
8g.142874351G>TCA2688872825CYP11B1,GMLc.*22C>A (n.*22C>A)
n.1731C>A
c.568C>A (n.568C>A)
c.181+33126G>T (n.181+33126G>T)
c.1772C>A (p.Ser591Tyr)
c.1703C>A (p.Ser568Tyr)
c.1694C>A (p.Ser565Tyr)
c.1511C>A (p.Ser504Tyr)
c.214+33126G>T (n.214+33126G>T)
 gnomAD v4
8g.142874352A>TCA2688872826CYP11B1,GMLc.*21T>A (n.*21T>A)
n.1730T>A
c.567T>A (n.567T>A)
c.181+33127A>T (n.181+33127A>T)
c.1771T>A (p.Ser591Thr)
c.1702T>A (p.Ser568Thr)
c.1693T>A (p.Ser565Thr)
c.1510T>A (p.Ser504Thr)
c.214+33127A>T (n.214+33127A>T)
 gnomAD v4
8g.142874353C>ACA2688872827CYP11B1,GMLc.*20G>T (n.*20G>T)
n.1729G>T
c.566G>T (n.566G>T)
c.181+33128C>A (n.181+33128C>A)
c.1770G>T (p.Gly590=)
c.1701G>T (p.Gly567=)
c.1692G>T (p.Gly564=)
c.1509G>T (p.Gly503=)
c.214+33128C>A (n.214+33128C>A)
 gnomAD v4
8g.142874353C>TCA2688872828CYP11B1,GMLc.*20G>A (n.*20G>A)
n.1729G>A
c.566G>A (n.566G>A)
c.181+33128C>T (n.181+33128C>T)
c.1770G>A (p.Gly590=)
c.1701G>A (p.Gly567=)
c.1692G>A (p.Gly564=)
c.1509G>A (p.Gly503=)
c.214+33128C>T (n.214+33128C>T)
 gnomAD v4
8g.142874354C=CA1825495750CYP11B1,GMLc.*19G= (n.*19G=)
n.1728G=
c.565G= (n.565G=)
c.181+33129C= (n.181+33129C=)
c.1769G= (p.Gly590=)
c.1700G= (p.Gly567=)
c.1691G= (p.Gly564=)
c.1508G= (p.Gly503=)
c.214+33129C= (n.214+33129C=)
8g.142874354C>GCA1825495751CYP11B1,GMLc.*19G>C (n.*19G>C)
n.1728G>C
c.565G>C (n.565G>C)
c.181+33129C>G (n.181+33129C>G)
c.1769G>C (p.Gly590Ala)
c.1700G>C (p.Gly567Ala)
c.1691G>C (p.Gly564Ala)
c.1508G>C (p.Gly503Ala)
c.214+33129C>G (n.214+33129C>G)
 dbSNP
8g.142874355C>ACA1825495753CYP11B1,GMLc.*18G>T (n.*18G>T)
n.1727G>T
c.564G>T (n.564G>T)
c.181+33130C>A (n.181+33130C>A)
c.1768G>T (p.Gly590Trp)
c.1699G>T (p.Gly567Trp)
c.1690G>T (p.Gly564Trp)
c.1507G>T (p.Gly503Trp)
c.214+33130C>A (n.214+33130C>A)
 dbSNP
8g.142874355C=CA1825495752CYP11B1,GMLc.*18G= (n.*18G=)
n.1727G=
c.564G= (n.564G=)
c.181+33130C= (n.181+33130C=)
c.1768G= (p.Gly590=)
c.1699G= (p.Gly567=)
c.1690G= (p.Gly564=)
c.1507G= (p.Gly503=)
c.214+33130C= (n.214+33130C=)
8g.142874355C>TCA4904929CYP11B1,GMLc.*18G>A (n.*18G>A)
n.1727G>A
c.564G>A (n.564G>A)
c.181+33130C>T (n.181+33130C>T)
c.1768G>A (p.Gly590Arg)
c.1699G>A (p.Gly567Arg)
c.1690G>A (p.Gly564Arg)
c.1507G>A (p.Gly503Arg)
c.214+33130C>T (n.214+33130C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874356T>CCA4904930CYP11B1,GMLc.*17A>G (n.*17A>G)
n.1726A>G
c.563A>G (n.563A>G)
c.181+33131T>C (n.181+33131T>C)
c.1767A>G (p.Pro589=)
c.1698A>G (p.Pro566=)
c.1689A>G (p.Pro563=)
c.1506A>G (p.Pro502=)
c.214+33131T>C (n.214+33131T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874356T>GCA4904931CYP11B1,GMLc.*17A>C (n.*17A>C)
n.1726A>C
c.563A>C (n.563A>C)
c.181+33131T>G (n.181+33131T>G)
c.1767A>C (p.Pro589=)
c.1698A>C (p.Pro566=)
c.1689A>C (p.Pro563=)
c.1506A>C (p.Pro502=)
c.214+33131T>G (n.214+33131T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874356T=CA1825495754CYP11B1,GMLc.*17A= (n.*17A=)
n.1726A=
c.563A= (n.563A=)
c.181+33131T= (n.181+33131T=)
c.1767A= (p.Pro589=)
c.1698A= (p.Pro566=)
c.1689A= (p.Pro563=)
c.1506A= (p.Pro502=)
c.214+33131T= (n.214+33131T=)
8g.142874357G=CA1825495755CYP11B1,GMLc.*16C= (n.*16C=)
n.1725C=
c.562C= (n.562C=)
c.181+33132G= (n.181+33132G=)
c.1766C= (p.Pro589=)
c.1697C= (p.Pro566=)
c.1688C= (p.Pro563=)
c.1505C= (p.Pro502=)
c.214+33132G= (n.214+33132G=)
8g.142874357G>TCA4904932CYP11B1,GMLc.*16C>A (n.*16C>A)
n.1725C>A
c.562C>A (n.562C>A)
c.181+33132G>T (n.181+33132G>T)
c.1766C>A (p.Pro589Gln)
c.1697C>A (p.Pro566Gln)
c.1688C>A (p.Pro563Gln)
c.1505C>A (p.Pro502Gln)
c.214+33132G>T (n.214+33132G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874359delCA2688872829CYP11B1,GMLc.*16del (n.*16del)
n.1725del
c.562del (n.562del)
c.181+33134del (n.181+33134del)
c.1766del (p.Pro589GlnfsTer?)
c.1697del (p.Pro566GlnfsTer?)
c.1688del (p.Pro563GlnfsTer?)
c.1505del (p.Pro502GlnfsTer?)
c.214+33134del (n.214+33134del)
 gnomAD v4
8g.142874358G=CA1825495756CYP11B1,GMLc.*15C= (n.*15C=)
n.1724C=
c.561C= (n.561C=)
c.181+33133G= (n.181+33133G=)
c.1765C= (p.Pro589=)
c.1696C= (p.Pro566=)
c.1687C= (p.Pro563=)
c.1504C= (p.Pro502=)
c.214+33133G= (n.214+33133G=)
8g.142874358G>TCA4904933CYP11B1,GMLc.*15C>A (n.*15C>A)
n.1724C>A
c.561C>A (n.561C>A)
c.181+33133G>T (n.181+33133G>T)
c.1765C>A (p.Pro589Thr)
c.1696C>A (p.Pro566Thr)
c.1687C>A (p.Pro563Thr)
c.1504C>A (p.Pro502Thr)
c.214+33133G>T (n.214+33133G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874359G>ACA585384336CYP11B1,GMLc.*14C>T (n.*14C>T)
n.1723C>T
c.560C>T (n.560C>T)
c.181+33134G>A (n.181+33134G>A)
c.1764C>T (p.His588=)
c.1695C>T (p.His565=)
c.1686C>T (p.His562=)
c.1503C>T (p.His501=)
c.214+33134G>A (n.214+33134G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.142874359G=CA1825495757CYP11B1,GMLc.*14C= (n.*14C=)
n.1723C=
c.560C= (n.560C=)
c.181+33134G= (n.181+33134G=)
c.1764C= (p.His588=)
c.1695C= (p.His565=)
c.1686C= (p.His562=)
c.1503C= (p.His501=)
c.214+33134G= (n.214+33134G=)
8g.142874359G>TCA4904934CYP11B1,GMLc.*14C>A (n.*14C>A)
n.1723C>A
c.560C>A (n.560C>A)
c.181+33134G>T (n.181+33134G>T)
c.1764C>A (p.His588Gln)
c.1695C>A (p.His565Gln)
c.1686C>A (p.His562Gln)
c.1503C>A (p.His501Gln)
c.214+33134G>T (n.214+33134G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874360T>GCA1825495758CYP11B1,GMLc.*13A>C (n.*13A>C)
n.1722A>C
c.559A>C (n.559A>C)
c.181+33135T>G (n.181+33135T>G)
c.1763A>C (p.His588Pro)
c.1694A>C (p.His565Pro)
c.1685A>C (p.His562Pro)
c.1502A>C (p.His501Pro)
c.214+33135T>G (n.214+33135T>G)
 dbSNP
8g.142874360T=CA1825495759CYP11B1,GMLc.*13A= (n.*13A=)
n.1722A=
c.559A= (n.559A=)
c.181+33135T= (n.181+33135T=)
c.1763A= (p.His588=)
c.1694A= (p.His565=)
c.1685A= (p.His562=)
c.1502A= (p.His501=)
c.214+33135T= (n.214+33135T=)
8g.142874361G=CA1825495760CYP11B1,GMLc.*12C= (n.*12C=)
n.1721C=
c.558C= (n.558C=)
c.181+33136G= (n.181+33136G=)
c.1762C= (p.His588=)
c.1693C= (p.His565=)
c.1684C= (p.His562=)
c.1501C= (p.His501=)
c.214+33136G= (n.214+33136G=)
8g.142874361G>TCA1825495761CYP11B1,GMLc.*12C>A (n.*12C>A)
n.1721C>A
c.558C>A (n.558C>A)
c.181+33136G>T (n.181+33136G>T)
c.1762C>A (p.His588Asn)
c.1693C>A (p.His565Asn)
c.1684C>A (p.His562Asn)
c.1501C>A (p.His501Asn)
c.214+33136G>T (n.214+33136G>T)
 dbSNP gnomAD v4
8g.142874362C>TCA2566189915CYP11B1,GMLc.*11G>A (n.*11G>A)
n.1720G>A
c.557G>A (n.557G>A)
c.181+33137C>T (n.181+33137C>T)
c.1761G>A (p.Leu587=)
c.1692G>A (p.Leu564=)
c.1683G>A (p.Leu561=)
c.1500G>A (p.Leu500=)
c.214+33137C>T (n.214+33137C>T)
 gnomAD v4
8g.142874363A=CA1825495762CYP11B1,GMLc.*10T= (n.*10T=)
n.1719T=
c.556T= (n.556T=)
c.181+33138A= (n.181+33138A=)
c.1760T= (p.Leu587=)
c.1691T= (p.Leu564=)
c.1682T= (p.Leu561=)
c.1499T= (p.Leu500=)
c.214+33138A= (n.214+33138A=)
8g.142874363A>GCA4904935CYP11B1,GMLc.*10T>C (n.*10T>C)
n.1719T>C
c.556T>C (n.556T>C)
c.181+33138A>G (n.181+33138A>G)
c.1760T>C (p.Leu587Pro)
c.1691T>C (p.Leu564Pro)
c.1682T>C (p.Leu561Pro)
c.1499T>C (p.Leu500Pro)
c.214+33138A>G (n.214+33138A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874366G>TCA2520092672CYP11B1,GMLc.*7C>A (n.*7C>A)
n.1716C>A
c.553C>A (n.553C>A)
c.181+33141G>T (n.181+33141G>T)
c.1757C>A (p.Ser586Tyr)
c.1688C>A (p.Ser563Tyr)
c.1679C>A (p.Ser560Tyr)
c.1496C>A (p.Ser499Tyr)
c.214+33141G>T (n.214+33141G>T)
 gnomAD v4
8g.142874367A=CA1825495763CYP11B1,GMLc.*6T= (n.*6T=)
n.1715T=
c.552T= (n.552T=)
c.181+33142A= (n.181+33142A=)
c.1756T= (p.Ser586=)
c.1687T= (p.Ser563=)
c.1678T= (p.Ser560=)
c.1495T= (p.Ser499=)
c.214+33142A= (n.214+33142A=)
8g.142874367A>GCA4904936CYP11B1,GMLc.*6T>C (n.*6T>C)
n.1715T>C
c.552T>C (n.552T>C)
c.181+33142A>G (n.181+33142A>G)
c.1756T>C (p.Ser586Pro)
c.1687T>C (p.Ser563Pro)
c.1678T>C (p.Ser560Pro)
c.1495T>C (p.Ser499Pro)
c.214+33142A>G (n.214+33142A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874368C>ACA2688872830CYP11B1,GMLc.*5G>T (n.*5G>T)
n.1714G>T
c.551G>T (n.551G>T)
c.181+33143C>A (n.181+33143C>A)
c.1755G>T (p.Thr585=)
c.1686G>T (p.Thr562=)
c.1677G>T (p.Thr559=)
c.1494G>T (p.Thr498=)
c.214+33143C>A (n.214+33143C>A)
 gnomAD v4
8g.142874368C=CA1825495764CYP11B1,GMLc.*5G= (n.*5G=)
n.1714G=
c.551G= (n.551G=)
c.181+33143C= (n.181+33143C=)
c.1755G= (p.Thr585=)
c.1686G= (p.Thr562=)
c.1677G= (p.Thr559=)
c.1494G= (p.Thr498=)
c.214+33143C= (n.214+33143C=)
8g.142874368C>GCA2688872831CYP11B1,GMLc.*5G>C (n.*5G>C)
n.1714G>C
c.551G>C (n.551G>C)
c.181+33143C>G (n.181+33143C>G)
c.1755G>C (p.Thr585=)
c.1686G>C (p.Thr562=)
c.1677G>C (p.Thr559=)
c.1494G>C (p.Thr498=)
c.214+33143C>G (n.214+33143C>G)
 gnomAD v4
8g.142874368C>TCA4904937CYP11B1,GMLc.*5G>A (n.*5G>A)
n.1714G>A
c.551G>A (n.551G>A)
c.181+33143C>T (n.181+33143C>T)
c.1755G>A (p.Thr585=)
c.1686G>A (p.Thr562=)
c.1677G>A (p.Thr559=)
c.1494G>A (p.Thr498=)
c.214+33143C>T (n.214+33143C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874369G>ACA4904938CYP11B1,GMLc.*4C>T (n.*4C>T)
n.1713C>T
c.550C>T (n.550C>T)
c.181+33144G>A (n.181+33144G>A)
c.1754C>T (p.Thr585Met)
c.1685C>T (p.Thr562Met)
c.1676C>T (p.Thr559Met)
c.1493C>T (p.Thr498Met)
c.214+33144G>A (n.214+33144G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874369G=CA1825495765CYP11B1,GMLc.*4C= (n.*4C=)
n.1713C=
c.550C= (n.550C=)
c.181+33144G= (n.181+33144G=)
c.1754C= (p.Thr585=)
c.1685C= (p.Thr562=)
c.1676C= (p.Thr559=)
c.1493C= (p.Thr498=)
c.214+33144G= (n.214+33144G=)
8g.142874370T>ACA585384337CYP11B1,GMLc.*3A>T (n.*3A>T)
n.1712A>T
c.549A>T (n.549A>T)
c.181+33145T>A (n.181+33145T>A)
c.1753A>T (p.Thr585Ser)
c.1684A>T (p.Thr562Ser)
c.1675A>T (p.Thr559Ser)
c.1492A>T (p.Thr498Ser)
c.214+33145T>A (n.214+33145T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142874370T>GCA1825495767CYP11B1,GMLc.*3A>C (n.*3A>C)
n.1712A>C
c.549A>C (n.549A>C)
c.181+33145T>G (n.181+33145T>G)
c.1753A>C (p.Thr585Pro)
c.1684A>C (p.Thr562Pro)
c.1675A>C (p.Thr559Pro)
c.1492A>C (p.Thr498Pro)
c.214+33145T>G (n.214+33145T>G)
 dbSNP
8g.142874370T=CA1825495766CYP11B1,GMLc.*3A= (n.*3A=)
n.1712A=
c.549A= (n.549A=)
c.181+33145T= (n.181+33145T=)
c.1753A= (p.Thr585=)
c.1684A= (p.Thr562=)
c.1675A= (p.Thr559=)
c.1492A= (p.Thr498=)
c.214+33145T= (n.214+33145T=)
8g.142874371G>CCA2579268085CYP11B1,GMLc.*2C>G (n.*2C>G)
n.1711C>G
c.548C>G (n.548C>G)
c.181+33146G>C (n.181+33146G>C)
c.1752C>G (p.Ile584Met)
c.1683C>G (p.Ile561Met)
c.1674C>G (p.Ile558Met)
c.1491C>G (p.Ile497Met)
c.214+33146G>C (n.214+33146G>C)
8g.142874373T>ACA372390476CYP11B1,GMLc.1512A>T (p.Ter504Tyr)
n.1709A>T
c.1725A>T (p.Ter575Tyr)
c.1314A>T (p.Ter438Tyr)
c.546A>T (p.Ter182Tyr)
c.181+33148T>A (n.181+33148T>A)
c.1750A>T (p.Ile584Phe)
c.1681A>T (p.Ile561Phe)
c.1672A>T (p.Ile558Phe)
c.1659A>T (p.Ter553Tyr)
c.1590A>T (p.Ter530Tyr)
c.1489A>T (p.Ile497Phe)
c.1461A>T (p.Ter487Tyr)
c.214+33148T>A (n.214+33148T>A)
8g.142874373T>CCA463324826CYP11B1,GMLc.1512A>G (p.Ter504=)
n.1709A>G
c.1725A>G (p.Ter575=)
c.1314A>G (p.Ter438=)
c.546A>G (p.Ter182=)
c.181+33148T>C (n.181+33148T>C)
c.1750A>G (p.Ile584Val)
c.1681A>G (p.Ile561Val)
c.1672A>G (p.Ile558Val)
c.1659A>G (p.Ter553=)
c.1590A>G (p.Ter530=)
c.1489A>G (p.Ile497Val)
c.1461A>G (p.Ter487=)
c.214+33148T>C (n.214+33148T>C)
 gnomAD v4
8g.142874373T>GCA372390482CYP11B1,GMLc.1512A>C (p.Ter504Tyr)
n.1709A>C
c.1725A>C (p.Ter575Tyr)
c.1314A>C (p.Ter438Tyr)
c.546A>C (p.Ter182Tyr)
c.181+33148T>G (n.181+33148T>G)
c.1750A>C (p.Ile584Leu)
c.1681A>C (p.Ile561Leu)
c.1672A>C (p.Ile558Leu)
c.1659A>C (p.Ter553Tyr)
c.1590A>C (p.Ter530Tyr)
c.1489A>C (p.Ile497Leu)
c.1461A>C (p.Ter487Tyr)
c.214+33148T>G (n.214+33148T>G)
8g.142874374delCA2579268086CYP11B1,GMLc.1512del (p.Ter504TyrextTer19)
n.1709del
c.1725del (p.Ter575TyrextTer19)
c.1314del (p.Ter438TyrextTer19)
c.546del (p.Ter182TyrextTer19)
c.181+33149del (n.181+33149del)
c.1750del (p.Ile584SerfsTer?)
c.1681del (p.Ile561SerfsTer?)
c.1672del (p.Ile558SerfsTer?)
c.1659del (p.Ter553TyrextTer19)
c.1590del (p.Ter530TyrextTer19)
c.1489del (p.Ile497SerfsTer?)
c.1461del (p.Ter487TyrextTer19)
c.214+33149del (n.214+33149del)
8g.142874374T>ACA372390485CYP11B1,GMLc.1511A>T (p.Ter504Leu)
n.1708A>T
c.1724A>T (p.Ter575Leu)
c.1313A>T (p.Ter438Leu)
c.545A>T (p.Ter182Leu)
c.181+33149T>A (n.181+33149T>A)
c.1749A>T (p.Leu583=)
c.1680A>T (p.Leu560=)
c.1671A>T (p.Leu557=)
c.1658A>T (p.Ter553Leu)
c.1589A>T (p.Ter530Leu)
c.1488A>T (p.Leu496=)
c.1460A>T (p.Ter487Leu)
c.214+33149T>A (n.214+33149T>A)
8g.142874374T>CCA463324831CYP11B1,GMLc.1511A>G (p.Ter504=)
n.1708A>G
c.1724A>G (p.Ter575=)
c.1313A>G (p.Ter438=)
c.545A>G (p.Ter182=)
c.181+33149T>C (n.181+33149T>C)
c.1749A>G (p.Leu583=)
c.1680A>G (p.Leu560=)
c.1671A>G (p.Leu557=)
c.1658A>G (p.Ter553=)
c.1589A>G (p.Ter530=)
c.1488A>G (p.Leu496=)
c.1460A>G (p.Ter487=)
c.214+33149T>C (n.214+33149T>C)
8g.142874374T>GCA372390488CYP11B1,GMLc.1511A>C (p.Ter504Ser)
n.1708A>C
c.1724A>C (p.Ter575Ser)
c.1313A>C (p.Ter438Ser)
c.545A>C (p.Ter182Ser)
c.181+33149T>G (n.181+33149T>G)
c.1749A>C (p.Leu583=)
c.1680A>C (p.Leu560=)
c.1671A>C (p.Leu557=)
c.1658A>C (p.Ter553Ser)
c.1589A>C (p.Ter530Ser)
c.1488A>C (p.Leu496=)
c.1460A>C (p.Ter487Ser)
c.214+33149T>G (n.214+33149T>G)
8g.142874375A>CCA372390491CYP11B1,GMLc.1510T>G (p.Ter504Glu)
n.1707T>G
c.1723T>G (p.Ter575Glu)
c.1312T>G (p.Ter438Glu)
c.544T>G (p.Ter182Glu)
c.181+33150A>C (n.181+33150A>C)
c.1748T>G (p.Leu583Arg)
c.1679T>G (p.Leu560Arg)
c.1670T>G (p.Leu557Arg)
c.1657T>G (p.Ter553Glu)
c.1588T>G (p.Ter530Glu)
c.1487T>G (p.Leu496Arg)
c.1459T>G (p.Ter487Glu)
c.214+33150A>C (n.214+33150A>C)
8g.142874375A>GCA372390494CYP11B1,GMLc.1510T>C (p.Ter504Gln)
n.1707T>C
c.1723T>C (p.Ter575Gln)
c.1312T>C (p.Ter438Gln)
c.544T>C (p.Ter182Gln)
c.181+33150A>G (n.181+33150A>G)
c.1748T>C (p.Leu583Pro)
c.1679T>C (p.Leu560Pro)
c.1670T>C (p.Leu557Pro)
c.1657T>C (p.Ter553Gln)
c.1588T>C (p.Ter530Gln)
c.1487T>C (p.Leu496Pro)
c.1459T>C (p.Ter487Gln)
c.214+33150A>G (n.214+33150A>G)
8g.142874375A>TCA372390496CYP11B1,GMLc.1510T>A (p.Ter504Lys)
n.1707T>A
c.1723T>A (p.Ter575Lys)
c.1312T>A (p.Ter438Lys)
c.544T>A (p.Ter182Lys)
c.181+33150A>T (n.181+33150A>T)
c.1748T>A (p.Leu583Gln)
c.1679T>A (p.Leu560Gln)
c.1670T>A (p.Leu557Gln)
c.1657T>A (p.Ter553Lys)
c.1588T>A (p.Ter530Lys)
c.1487T>A (p.Leu496Gln)
c.1459T>A (p.Ter487Lys)
c.214+33150A>T (n.214+33150A>T)
8g.142874376G>ACA463324838CYP11B1,GMLc.1509C>T (p.Asn503=)
n.1706C>T
c.1722C>T (p.Asn574=)
c.1311C>T (p.Asn437=)
c.543C>T (p.Asn181=)
c.181+33151G>A (n.181+33151G>A)
c.1747C>T (p.Leu583=)
c.1678C>T (p.Leu560=)
c.1669C>T (p.Leu557=)
c.1656C>T (p.Asn552=)
c.1587C>T (p.Asn529=)
c.1486C>T (p.Leu496=)
c.1458C>T (p.Asn486=)
c.214+33151G>A (n.214+33151G>A)
 ClinVar
8g.142874376G>CCA372390499CYP11B1,GMLc.1509C>G (p.Asn503Lys)
n.1706C>G
c.1722C>G (p.Asn574Lys)
c.1311C>G (p.Asn437Lys)
c.543C>G (p.Asn181Lys)
c.181+33151G>C (n.181+33151G>C)
c.1747C>G (p.Leu583Val)
c.1678C>G (p.Leu560Val)
c.1669C>G (p.Leu557Val)
c.1656C>G (p.Asn552Lys)
c.1587C>G (p.Asn529Lys)
c.1486C>G (p.Leu496Val)
c.1458C>G (p.Asn486Lys)
c.214+33151G>C (n.214+33151G>C)
8g.142874376G>TCA372390500CYP11B1,GMLc.1509C>A (p.Asn503Lys)
n.1706C>A
c.1722C>A (p.Asn574Lys)
c.1311C>A (p.Asn437Lys)
c.543C>A (p.Asn181Lys)
c.181+33151G>T (n.181+33151G>T)
c.1747C>A (p.Leu583Ile)
c.1678C>A (p.Leu560Ile)
c.1669C>A (p.Leu557Ile)
c.1656C>A (p.Asn552Lys)
c.1587C>A (p.Asn529Lys)
c.1486C>A (p.Leu496Ile)
c.1458C>A (p.Asn486Lys)
c.214+33151G>T (n.214+33151G>T)
8g.142874377T>ACA372390501CYP11B1,GMLc.1508A>T (p.Asn503Ile)
n.1705A>T
c.1721A>T (p.Asn574Ile)
c.1310A>T (p.Asn437Ile)
c.542A>T (p.Asn181Ile)
c.181+33152T>A (n.181+33152T>A)
c.1746A>T (p.Gln582His)
c.1677A>T (p.Gln559His)
c.1668A>T (p.Gln556His)
c.1655A>T (p.Asn552Ile)
c.1586A>T (p.Asn529Ile)
c.1485A>T (p.Gln495His)
c.1457A>T (p.Asn486Ile)
c.214+33152T>A (n.214+33152T>A)
8g.142874377T>CCA372390502CYP11B1,GMLc.1508A>G (p.Asn503Ser)
n.1705A>G
c.1721A>G (p.Asn574Ser)
c.1310A>G (p.Asn437Ser)
c.542A>G (p.Asn181Ser)
c.181+33152T>C (n.181+33152T>C)
c.1746A>G (p.Gln582=)
c.1677A>G (p.Gln559=)
c.1668A>G (p.Gln556=)
c.1655A>G (p.Asn552Ser)
c.1586A>G (p.Asn529Ser)
c.1485A>G (p.Gln495=)
c.1457A>G (p.Asn486Ser)
c.214+33152T>C (n.214+33152T>C)
8g.142874377T>GCA372390503CYP11B1,GMLc.1508A>C (p.Asn503Thr)
n.1705A>C
c.1721A>C (p.Asn574Thr)
c.1310A>C (p.Asn437Thr)
c.542A>C (p.Asn181Thr)
c.181+33152T>G (n.181+33152T>G)
c.1746A>C (p.Gln582His)
c.1677A>C (p.Gln559His)
c.1668A>C (p.Gln556His)
c.1655A>C (p.Asn552Thr)
c.1586A>C (p.Asn529Thr)
c.1485A>C (p.Gln495His)
c.1457A>C (p.Asn486Thr)
c.214+33152T>G (n.214+33152T>G)
8g.142874378T>ACA372390505CYP11B1,GMLc.1507A>T (p.Asn503Tyr)
n.1704A>T
c.1720A>T (p.Asn574Tyr)
c.1309A>T (p.Asn437Tyr)
c.541A>T (p.Asn181Tyr)
c.181+33153T>A (n.181+33153T>A)
c.1745A>T (p.Gln582Leu)
c.1676A>T (p.Gln559Leu)
c.1667A>T (p.Gln556Leu)
c.1654A>T (p.Asn552Tyr)
c.1585A>T (p.Asn529Tyr)
c.1484A>T (p.Gln495Leu)
c.1456A>T (p.Asn486Tyr)
c.214+33153T>A (n.214+33153T>A)
8g.142874378T>CCA372390508CYP11B1,GMLc.1507A>G (p.Asn503Asp)
n.1704A>G
c.1720A>G (p.Asn574Asp)
c.1309A>G (p.Asn437Asp)
c.541A>G (p.Asn181Asp)
c.181+33153T>C (n.181+33153T>C)
c.1745A>G (p.Gln582Arg)
c.1676A>G (p.Gln559Arg)
c.1667A>G (p.Gln556Arg)
c.1654A>G (p.Asn552Asp)
c.1585A>G (p.Asn529Asp)
c.1484A>G (p.Gln495Arg)
c.1456A>G (p.Asn486Asp)
c.214+33153T>C (n.214+33153T>C)
8g.142874378T>GCA372390506CYP11B1,GMLc.1507A>C (p.Asn503His)
n.1704A>C
c.1720A>C (p.Asn574His)
c.1309A>C (p.Asn437His)
c.541A>C (p.Asn181His)
c.181+33153T>G (n.181+33153T>G)
c.1745A>C (p.Gln582Pro)
c.1676A>C (p.Gln559Pro)
c.1667A>C (p.Gln556Pro)
c.1654A>C (p.Asn552His)
c.1585A>C (p.Asn529His)
c.1484A>C (p.Gln495Pro)
c.1456A>C (p.Asn486His)
c.214+33153T>G (n.214+33153T>G)
8g.142874379G>ACA463324849CYP11B1,GMLc.1506C>T (p.Ile502=)
n.1703C>T
c.1719C>T (p.Ile573=)
c.1308C>T (p.Ile436=)
c.540C>T (p.Ile180=)
c.181+33154G>A (n.181+33154G>A)
c.1744C>T (p.Gln582Ter)
c.1675C>T (p.Gln559Ter)
c.1666C>T (p.Gln556Ter)
c.1653C>T (p.Ile551=)
c.1584C>T (p.Ile528=)
c.1483C>T (p.Gln495Ter)
c.1455C>T (p.Ile485=)
c.214+33154G>A (n.214+33154G>A)
8g.142874379G>CCA372390515CYP11B1,GMLc.1506C>G (p.Ile502Met)
n.1703C>G
c.1719C>G (p.Ile573Met)
c.1308C>G (p.Ile436Met)
c.540C>G (p.Ile180Met)
c.181+33154G>C (n.181+33154G>C)
c.1744C>G (p.Gln582Glu)
c.1675C>G (p.Gln559Glu)
c.1666C>G (p.Gln556Glu)
c.1653C>G (p.Ile551Met)
c.1584C>G (p.Ile528Met)
c.1483C>G (p.Gln495Glu)
c.1455C>G (p.Ile485Met)
c.214+33154G>C (n.214+33154G>C)
 gnomAD v4
8g.142874379G>TCA463324852CYP11B1,GMLc.1506C>A (p.Ile502=)
n.1703C>A
c.1719C>A (p.Ile573=)
c.1308C>A (p.Ile436=)
c.540C>A (p.Ile180=)
c.181+33154G>T (n.181+33154G>T)
c.1744C>A (p.Gln582Lys)
c.1675C>A (p.Gln559Lys)
c.1666C>A (p.Gln556Lys)
c.1653C>A (p.Ile551=)
c.1584C>A (p.Ile528=)
c.1483C>A (p.Gln495Lys)
c.1455C>A (p.Ile485=)
c.214+33154G>T (n.214+33154G>T)
8g.142874380A=CA1825495768CYP11B1,GMLc.1505T= (p.Ile502=)
n.1702T=
c.1718T= (p.Ile573=)
c.1307T= (p.Ile436=)
c.539T= (p.Ile180=)
c.181+33155A= (n.181+33155A=)
c.1743T= (p.His581=)
c.1674T= (p.His558=)
c.1665T= (p.His555=)
c.1652T= (p.Ile551=)
c.1583T= (p.Ile528=)
c.1482T= (p.His494=)
c.1454T= (p.Ile485=)
c.214+33155A= (n.214+33155A=)
8g.142874380A>CCA372390520CYP11B1,GMLc.1505T>G (p.Ile502Ser)
n.1702T>G
c.1718T>G (p.Ile573Ser)
c.1307T>G (p.Ile436Ser)
c.539T>G (p.Ile180Ser)
c.181+33155A>C (n.181+33155A>C)
c.1743T>G (p.His581Gln)
c.1674T>G (p.His558Gln)
c.1665T>G (p.His555Gln)
c.1652T>G (p.Ile551Ser)
c.1583T>G (p.Ile528Ser)
c.1482T>G (p.His494Gln)
c.1454T>G (p.Ile485Ser)
c.214+33155A>C (n.214+33155A>C)
8g.142874380A>GCA372390518CYP11B1,GMLc.1505T>C (p.Ile502Thr)
n.1702T>C
c.1718T>C (p.Ile573Thr)
c.1307T>C (p.Ile436Thr)
c.539T>C (p.Ile180Thr)
c.181+33155A>G (n.181+33155A>G)
c.1743T>C (p.His581=)
c.1674T>C (p.His558=)
c.1665T>C (p.His555=)
c.1652T>C (p.Ile551Thr)
c.1583T>C (p.Ile528Thr)
c.1482T>C (p.His494=)
c.1454T>C (p.Ile485Thr)
c.214+33155A>G (n.214+33155A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.142874380A>TCA372390519CYP11B1,GMLc.1505T>A (p.Ile502Asn)
n.1702T>A
c.1718T>A (p.Ile573Asn)
c.1307T>A (p.Ile436Asn)
c.539T>A (p.Ile180Asn)
c.181+33155A>T (n.181+33155A>T)
c.1743T>A (p.His581Gln)
c.1674T>A (p.His558Gln)
c.1665T>A (p.His555Gln)
c.1652T>A (p.Ile551Asn)
c.1583T>A (p.Ile528Asn)
c.1482T>A (p.His494Gln)
c.1454T>A (p.Ile485Asn)
c.214+33155A>T (n.214+33155A>T)
8g.142874381T>ACA372390521CYP11B1,GMLc.1504A>T (p.Ile502Phe)
n.1701A>T
c.1717A>T (p.Ile573Phe)
c.1306A>T (p.Ile436Phe)
c.538A>T (p.Ile180Phe)
c.181+33156T>A (n.181+33156T>A)
c.1742A>T (p.His581Leu)
c.1673A>T (p.His558Leu)
c.1664A>T (p.His555Leu)
c.1651A>T (p.Ile551Phe)
c.1582A>T (p.Ile528Phe)
c.1481A>T (p.His494Leu)
c.1453A>T (p.Ile485Phe)
c.214+33156T>A (n.214+33156T>A)
8g.142874381T>CCA372390527CYP11B1,GMLc.1504A>G (p.Ile502Val)
n.1701A>G
c.1717A>G (p.Ile573Val)
c.1306A>G (p.Ile436Val)
c.538A>G (p.Ile180Val)
c.181+33156T>C (n.181+33156T>C)
c.1742A>G (p.His581Arg)
c.1673A>G (p.His558Arg)
c.1664A>G (p.His555Arg)
c.1651A>G (p.Ile551Val)
c.1582A>G (p.Ile528Val)
c.1481A>G (p.His494Arg)
c.1453A>G (p.Ile485Val)
c.214+33156T>C (n.214+33156T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142874381T>GCA372390528CYP11B1,GMLc.1504A>C (p.Ile502Leu)
n.1701A>C
c.1717A>C (p.Ile573Leu)
c.1306A>C (p.Ile436Leu)
c.538A>C (p.Ile180Leu)
c.181+33156T>G (n.181+33156T>G)
c.1742A>C (p.His581Pro)
c.1673A>C (p.His558Pro)
c.1664A>C (p.His555Pro)
c.1651A>C (p.Ile551Leu)
c.1582A>C (p.Ile528Leu)
c.1481A>C (p.His494Pro)
c.1453A>C (p.Ile485Leu)
c.214+33156T>G (n.214+33156T>G)
8g.142874381T=CA1825495769CYP11B1,GMLc.1504A= (p.Ile502=)
n.1701A=
c.1717A= (p.Ile573=)
c.1306A= (p.Ile436=)
c.538A= (p.Ile180=)
c.181+33156T= (n.181+33156T=)
c.1742A= (p.His581=)
c.1673A= (p.His558=)
c.1664A= (p.His555=)
c.1651A= (p.Ile551=)
c.1582A= (p.Ile528=)
c.1481A= (p.His494=)
c.1453A= (p.Ile485=)
c.214+33156T= (n.214+33156T=)
8g.142874382G>ACA463324862CYP11B1,GMLc.1503C>T (p.Ala501=)
n.1700C>T
c.1716C>T (p.Ala572=)
c.1305C>T (p.Ala435=)
c.537C>T (p.Ala179=)
c.181+33157G>A (n.181+33157G>A)
c.1741C>T (p.His581Tyr)
c.1672C>T (p.His558Tyr)
c.1663C>T (p.His555Tyr)
c.1650C>T (p.Ala550=)
c.1581C>T (p.Ala527=)
c.1480C>T (p.His494Tyr)
c.1452C>T (p.Ala484=)
c.214+33157G>A (n.214+33157G>A)
 ClinVar
8g.142874382G>CCA463324863CYP11B1,GMLc.1503C>G (p.Ala501=)
n.1700C>G
c.1716C>G (p.Ala572=)
c.1305C>G (p.Ala435=)
c.537C>G (p.Ala179=)
c.181+33157G>C (n.181+33157G>C)
c.1741C>G (p.His581Asp)
c.1672C>G (p.His558Asp)
c.1663C>G (p.His555Asp)
c.1650C>G (p.Ala550=)
c.1581C>G (p.Ala527=)
c.1480C>G (p.His494Asp)
c.1452C>G (p.Ala484=)
c.214+33157G>C (n.214+33157G>C)
8g.142874382G>TCA463324866CYP11B1,GMLc.1503C>A (p.Ala501=)
n.1700C>A
c.1716C>A (p.Ala572=)
c.1305C>A (p.Ala435=)
c.537C>A (p.Ala179=)
c.181+33157G>T (n.181+33157G>T)
c.1741C>A (p.His581Asn)
c.1672C>A (p.His558Asn)
c.1663C>A (p.His555Asn)
c.1650C>A (p.Ala550=)
c.1581C>A (p.Ala527=)
c.1480C>A (p.His494Asn)
c.1452C>A (p.Ala484=)
c.214+33157G>T (n.214+33157G>T)
8g.142874383G>ACA372390534CYP11B1,GMLc.1502C>T (p.Ala501Val)
n.1699C>T
c.1715C>T (p.Ala572Val)
c.1304C>T (p.Ala435Val)
c.536C>T (p.Ala179Val)
c.181+33158G>A (n.181+33158G>A)
c.1740C>T (p.Ser580=)
c.1671C>T (p.Ser557=)
c.1662C>T (p.Ser554=)
c.1649C>T (p.Ala550Val)
c.1580C>T (p.Ala527Val)
c.1479C>T (p.Ser493=)
c.1451C>T (p.Ala484Val)
c.214+33158G>A (n.214+33158G>A)
8g.142874383G>CCA372390537CYP11B1,GMLc.1502C>G (p.Ala501Gly)
n.1699C>G
c.1715C>G (p.Ala572Gly)
c.1304C>G (p.Ala435Gly)
c.536C>G (p.Ala179Gly)
c.181+33158G>C (n.181+33158G>C)
c.1740C>G (p.Ser580Arg)
c.1671C>G (p.Ser557Arg)
c.1662C>G (p.Ser554Arg)
c.1649C>G (p.Ala550Gly)
c.1580C>G (p.Ala527Gly)
c.1479C>G (p.Ser493Arg)
c.1451C>G (p.Ala484Gly)
c.214+33158G>C (n.214+33158G>C)
 COSMIC
8g.142874383G>TCA372390539CYP11B1,GMLc.1502C>A (p.Ala501Asp)
n.1699C>A
c.1715C>A (p.Ala572Asp)
c.1304C>A (p.Ala435Asp)
c.536C>A (p.Ala179Asp)
c.181+33158G>T (n.181+33158G>T)
c.1740C>A (p.Ser580Arg)
c.1671C>A (p.Ser557Arg)
c.1662C>A (p.Ser554Arg)
c.1649C>A (p.Ala550Asp)
c.1580C>A (p.Ala527Asp)
c.1479C>A (p.Ser493Arg)
c.1451C>A (p.Ala484Asp)
c.214+33158G>T (n.214+33158G>T)
 gnomAD v4
8g.142874384C>ACA372390542CYP11B1,GMLc.1501G>T (p.Ala501Ser)
n.1698G>T
c.1714G>T (p.Ala572Ser)
c.1303G>T (p.Ala435Ser)
c.535G>T (p.Ala179Ser)
c.181+33159C>A (n.181+33159C>A)
c.1739G>T (p.Ser580Ile)
c.1670G>T (p.Ser557Ile)
c.1661G>T (p.Ser554Ile)
c.1648G>T (p.Ala550Ser)
c.1579G>T (p.Ala527Ser)
c.1478G>T (p.Ser493Ile)
c.1450G>T (p.Ala484Ser)
c.214+33159C>A (n.214+33159C>A)
8g.142874384C>GCA372390544CYP11B1,GMLc.1501G>C (p.Ala501Pro)
n.1698G>C
c.1714G>C (p.Ala572Pro)
c.1303G>C (p.Ala435Pro)
c.535G>C (p.Ala179Pro)
c.181+33159C>G (n.181+33159C>G)
c.1739G>C (p.Ser580Thr)
c.1670G>C (p.Ser557Thr)
c.1661G>C (p.Ser554Thr)
c.1648G>C (p.Ala550Pro)
c.1579G>C (p.Ala527Pro)
c.1478G>C (p.Ser493Thr)
c.1450G>C (p.Ala484Pro)
c.214+33159C>G (n.214+33159C>G)
8g.142874384C>TCA372390547CYP11B1,GMLc.1501G>A (p.Ala501Thr)
n.1698G>A
c.1714G>A (p.Ala572Thr)
c.1303G>A (p.Ala435Thr)
c.535G>A (p.Ala179Thr)
c.181+33159C>T (n.181+33159C>T)
c.1739G>A (p.Ser580Asn)
c.1670G>A (p.Ser557Asn)
c.1661G>A (p.Ser554Asn)
c.1648G>A (p.Ala550Thr)
c.1579G>A (p.Ala527Thr)
c.1478G>A (p.Ser493Asn)
c.1450G>A (p.Ala484Thr)
c.214+33159C>T (n.214+33159C>T)
8g.142874385T>ACA372390554CYP11B1,GMLc.1500A>T (p.Arg500Ser)
n.1697A>T
c.1713A>T (p.Arg571Ser)
c.1302A>T (p.Arg434Ser)
c.534A>T (p.Arg178Ser)
c.181+33160T>A (n.181+33160T>A)
c.1738A>T (p.Ser580Cys)
c.1669A>T (p.Ser557Cys)
c.1660A>T (p.Ser554Cys)
c.1647A>T (p.Arg549Ser)
c.1578A>T (p.Arg526Ser)
c.1477A>T (p.Ser493Cys)
c.1449A>T (p.Arg483Ser)
c.214+33160T>A (n.214+33160T>A)
8g.142874385T>CCA463324875CYP11B1,GMLc.1500A>G (p.Arg500=)
n.1697A>G
c.1713A>G (p.Arg571=)
c.1302A>G (p.Arg434=)
c.534A>G (p.Arg178=)
c.181+33160T>C (n.181+33160T>C)
c.1738A>G (p.Ser580Gly)
c.1669A>G (p.Ser557Gly)
c.1660A>G (p.Ser554Gly)
c.1647A>G (p.Arg549=)
c.1578A>G (p.Arg526=)
c.1477A>G (p.Ser493Gly)
c.1449A>G (p.Arg483=)
c.214+33160T>C (n.214+33160T>C)
 ClinVar dbSNP
8g.142874385T>GCA372390558CYP11B1,GMLc.1500A>C (p.Arg500Ser)
n.1697A>C
c.1713A>C (p.Arg571Ser)
c.1302A>C (p.Arg434Ser)
c.534A>C (p.Arg178Ser)
c.181+33160T>G (n.181+33160T>G)
c.1738A>C (p.Ser580Arg)
c.1669A>C (p.Ser557Arg)
c.1660A>C (p.Ser554Arg)
c.1647A>C (p.Arg549Ser)
c.1578A>C (p.Arg526Ser)
c.1477A>C (p.Ser493Arg)
c.1449A>C (p.Arg483Ser)
c.214+33160T>G (n.214+33160T>G)
 dbSNP
8g.142874385T=CA1825495770CYP11B1,GMLc.1500A= (p.Arg500=)
n.1697A=
c.1713A= (p.Arg571=)
c.1302A= (p.Arg434=)
c.534A= (p.Arg178=)
c.181+33160T= (n.181+33160T=)
c.1738A= (p.Ser580=)
c.1669A= (p.Ser557=)
c.1660A= (p.Ser554=)
c.1647A= (p.Arg549=)
c.1578A= (p.Arg526=)
c.1477A= (p.Ser493=)
c.1449A= (p.Arg483=)
c.214+33160T= (n.214+33160T=)
8g.142874386C>ACA372390560CYP11B1,GMLc.1499G>T (p.Arg500Ile)
n.1696G>T
c.1712G>T (p.Arg571Ile)
c.1301G>T (p.Arg434Ile)
c.533G>T (p.Arg178Ile)
c.181+33161C>A (n.181+33161C>A)
c.1737G>T (p.Gln579His)
c.1668G>T (p.Gln556His)
c.1659G>T (p.Gln553His)
c.1646G>T (p.Arg549Ile)
c.1577G>T (p.Arg526Ile)
c.1476G>T (p.Gln492His)
c.1448G>T (p.Arg483Ile)
c.214+33161C>A (n.214+33161C>A)
8g.142874386C>GCA372390564CYP11B1,GMLc.1499G>C (p.Arg500Thr)
n.1696G>C
c.1712G>C (p.Arg571Thr)
c.1301G>C (p.Arg434Thr)
c.533G>C (p.Arg178Thr)
c.181+33161C>G (n.181+33161C>G)
c.1737G>C (p.Gln579His)
c.1668G>C (p.Gln556His)
c.1659G>C (p.Gln553His)
c.1646G>C (p.Arg549Thr)
c.1577G>C (p.Arg526Thr)
c.1476G>C (p.Gln492His)
c.1448G>C (p.Arg483Thr)
c.214+33161C>G (n.214+33161C>G)
8g.142874386C>TCA372390563CYP11B1,GMLc.1499G>A (p.Arg500Lys)
n.1696G>A
c.1712G>A (p.Arg571Lys)
c.1301G>A (p.Arg434Lys)
c.533G>A (p.Arg178Lys)
c.181+33161C>T (n.181+33161C>T)
c.1737G>A (p.Gln579=)
c.1668G>A (p.Gln556=)
c.1659G>A (p.Gln553=)
c.1646G>A (p.Arg549Lys)
c.1577G>A (p.Arg526Lys)
c.1476G>A (p.Gln492=)
c.1448G>A (p.Arg483Lys)
c.214+33161C>T (n.214+33161C>T)
 COSMIC
8g.142874387T>ACA372390566CYP11B1,GMLc.1498A>T (p.Arg500Ter)
n.1695A>T
c.1711A>T (p.Arg571Ter)
c.1300A>T (p.Arg434Ter)
c.532A>T (p.Arg178Ter)
c.181+33162T>A (n.181+33162T>A)
c.1736A>T (p.Gln579Leu)
c.1667A>T (p.Gln556Leu)
c.1658A>T (p.Gln553Leu)
c.1645A>T (p.Arg549Ter)
c.1576A>T (p.Arg526Ter)
c.1475A>T (p.Gln492Leu)
c.1447A>T (p.Arg483Ter)
c.214+33162T>A (n.214+33162T>A)
8g.142874387T>CCA372390568CYP11B1,GMLc.1498A>G (p.Arg500Gly)
n.1695A>G
c.1711A>G (p.Arg571Gly)
c.1300A>G (p.Arg434Gly)
c.532A>G (p.Arg178Gly)
c.181+33162T>C (n.181+33162T>C)
c.1736A>G (p.Gln579Arg)
c.1667A>G (p.Gln556Arg)
c.1658A>G (p.Gln553Arg)
c.1645A>G (p.Arg549Gly)
c.1576A>G (p.Arg526Gly)
c.1475A>G (p.Gln492Arg)
c.1447A>G (p.Arg483Gly)
c.214+33162T>C (n.214+33162T>C)
8g.142874387T>GCA463324884CYP11B1,GMLc.1498A>C (p.Arg500=)
n.1695A>C
c.1711A>C (p.Arg571=)
c.1300A>C (p.Arg434=)
c.532A>C (p.Arg178=)
c.181+33162T>G (n.181+33162T>G)
c.1736A>C (p.Gln579Pro)
c.1667A>C (p.Gln556Pro)
c.1658A>C (p.Gln553Pro)
c.1645A>C (p.Arg549=)
c.1576A>C (p.Arg526=)
c.1475A>C (p.Gln492Pro)
c.1447A>C (p.Arg483=)
c.214+33162T>G (n.214+33162T>G)
8g.142874388G>ACA463324886CYP11B1,GMLc.1497C>T (p.Phe499=)
n.1694C>T
c.1710C>T (p.Phe570=)
c.1299C>T (p.Phe433=)
c.531C>T (p.Phe177=)
c.181+33163G>A (n.181+33163G>A)
c.1735C>T (p.Gln579Ter)
c.1666C>T (p.Gln556Ter)
c.1657C>T (p.Gln553Ter)
c.1644C>T (p.Phe548=)
c.1575C>T (p.Phe525=)
c.1474C>T (p.Gln492Ter)
c.1446C>T (p.Phe482=)
c.214+33163G>A (n.214+33163G>A)
 COSMIC
8g.142874388G>CCA372390576CYP11B1,GMLc.1497C>G (p.Phe499Leu)
n.1694C>G
c.1710C>G (p.Phe570Leu)
c.1299C>G (p.Phe433Leu)
c.531C>G (p.Phe177Leu)
c.181+33163G>C (n.181+33163G>C)
c.1735C>G (p.Gln579Glu)
c.1666C>G (p.Gln556Glu)
c.1657C>G (p.Gln553Glu)
c.1644C>G (p.Phe548Leu)
c.1575C>G (p.Phe525Leu)
c.1474C>G (p.Gln492Glu)
c.1446C>G (p.Phe482Leu)
c.214+33163G>C (n.214+33163G>C)
8g.142874388G>TCA372390580CYP11B1,GMLc.1497C>A (p.Phe499Leu)
n.1694C>A
c.1710C>A (p.Phe570Leu)
c.1299C>A (p.Phe433Leu)
c.531C>A (p.Phe177Leu)
c.181+33163G>T (n.181+33163G>T)
c.1735C>A (p.Gln579Lys)
c.1666C>A (p.Gln556Lys)
c.1657C>A (p.Gln553Lys)
c.1644C>A (p.Phe548Leu)
c.1575C>A (p.Phe525Leu)
c.1474C>A (p.Gln492Lys)
c.1446C>A (p.Phe482Leu)
c.214+33163G>T (n.214+33163G>T)
8g.142874389A>CCA372390583CYP11B1,GMLc.1496T>G (p.Phe499Cys)
n.1693T>G
c.1709T>G (p.Phe570Cys)
c.1298T>G (p.Phe433Cys)
c.530T>G (p.Phe177Cys)
c.181+33164A>C (n.181+33164A>C)
c.1734T>G (p.Leu578=)
c.1665T>G (p.Leu555=)
c.1656T>G (p.Leu552=)
c.1643T>G (p.Phe548Cys)
c.1574T>G (p.Phe525Cys)
c.1473T>G (p.Leu491=)
c.1445T>G (p.Phe482Cys)
c.214+33164A>C (n.214+33164A>C)
8g.142874389A>GCA372390585CYP11B1,GMLc.1496T>C (p.Phe499Ser)
n.1693T>C
c.1709T>C (p.Phe570Ser)
c.1298T>C (p.Phe433Ser)
c.530T>C (p.Phe177Ser)
c.181+33164A>G (n.181+33164A>G)
c.1734T>C (p.Leu578=)
c.1665T>C (p.Leu555=)
c.1656T>C (p.Leu552=)
c.1643T>C (p.Phe548Ser)
c.1574T>C (p.Phe525Ser)
c.1473T>C (p.Leu491=)
c.1445T>C (p.Phe482Ser)
c.214+33164A>G (n.214+33164A>G)
8g.142874389A>TCA372390589CYP11B1,GMLc.1496T>A (p.Phe499Tyr)
n.1693T>A
c.1709T>A (p.Phe570Tyr)
c.1298T>A (p.Phe433Tyr)
c.530T>A (p.Phe177Tyr)
c.181+33164A>T (n.181+33164A>T)
c.1734T>A (p.Leu578=)
c.1665T>A (p.Leu555=)
c.1656T>A (p.Leu552=)
c.1643T>A (p.Phe548Tyr)
c.1574T>A (p.Phe525Tyr)
c.1473T>A (p.Leu491=)
c.1445T>A (p.Phe482Tyr)
c.214+33164A>T (n.214+33164A>T)
 COSMIC
8g.142874390A>CCA372390593CYP11B1,GMLc.1495T>G (p.Phe499Val)
n.1692T>G
c.1708T>G (p.Phe570Val)
c.1297T>G (p.Phe433Val)
c.529T>G (p.Phe177Val)
c.181+33165A>C (n.181+33165A>C)
c.1733T>G (p.Leu578Arg)
c.1664T>G (p.Leu555Arg)
c.1655T>G (p.Leu552Arg)
c.1642T>G (p.Phe548Val)
c.1573T>G (p.Phe525Val)
c.1472T>G (p.Leu491Arg)
c.1444T>G (p.Phe482Val)
c.214+33165A>C (n.214+33165A>C)
8g.142874390A>GCA372390595CYP11B1,GMLc.1495T>C (p.Phe499Leu)
n.1692T>C
c.1708T>C (p.Phe570Leu)
c.1297T>C (p.Phe433Leu)
c.529T>C (p.Phe177Leu)
c.181+33165A>G (n.181+33165A>G)
c.1733T>C (p.Leu578Pro)
c.1664T>C (p.Leu555Pro)
c.1655T>C (p.Leu552Pro)
c.1642T>C (p.Phe548Leu)
c.1573T>C (p.Phe525Leu)
c.1472T>C (p.Leu491Pro)
c.1444T>C (p.Phe482Leu)
c.214+33165A>G (n.214+33165A>G)
 COSMIC
8g.142874390A>TCA372390597CYP11B1,GMLc.1495T>A (p.Phe499Ile)
n.1692T>A
c.1708T>A (p.Phe570Ile)
c.1297T>A (p.Phe433Ile)
c.529T>A (p.Phe177Ile)
c.181+33165A>T (n.181+33165A>T)
c.1733T>A (p.Leu578His)
c.1664T>A (p.Leu555His)
c.1655T>A (p.Leu552His)
c.1642T>A (p.Phe548Ile)
c.1573T>A (p.Phe525Ile)
c.1472T>A (p.Leu491His)
c.1444T>A (p.Phe482Ile)
c.214+33165A>T (n.214+33165A>T)
8g.142874391G>ACA463324897CYP11B1,GMLc.1494C>T (p.Thr498=)
n.1691C>T
c.1707C>T (p.Thr569=)
c.1296C>T (p.Thr432=)
c.528C>T (p.Thr176=)
c.181+33166G>A (n.181+33166G>A)
c.1732C>T (p.Leu578Phe)
c.1663C>T (p.Leu555Phe)
c.1654C>T (p.Leu552Phe)
c.1641C>T (p.Thr547=)
c.1572C>T (p.Thr524=)
c.1471C>T (p.Leu491Phe)
c.1443C>T (p.Thr481=)
c.214+33166G>A (n.214+33166G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.142874391G>CCA463324900CYP11B1,GMLc.1494C>G (p.Thr498=)
n.1691C>G
c.1707C>G (p.Thr569=)
c.1296C>G (p.Thr432=)
c.528C>G (p.Thr176=)
c.181+33166G>C (n.181+33166G>C)
c.1732C>G (p.Leu578Val)
c.1663C>G (p.Leu555Val)
c.1654C>G (p.Leu552Val)
c.1641C>G (p.Thr547=)
c.1572C>G (p.Thr524=)
c.1471C>G (p.Leu491Val)
c.1443C>G (p.Thr481=)
c.214+33166G>C (n.214+33166G>C)
8g.142874391G=CA1825495771CYP11B1,GMLc.1494C= (p.Thr498=)
n.1691C=
c.1707C= (p.Thr569=)
c.1296C= (p.Thr432=)
c.528C= (p.Thr176=)
c.181+33166G= (n.181+33166G=)
c.1732C= (p.Leu578=)
c.1663C= (p.Leu555=)
c.1654C= (p.Leu552=)
c.1641C= (p.Thr547=)
c.1572C= (p.Thr524=)
c.1471C= (p.Leu491=)
c.1443C= (p.Thr481=)
c.214+33166G= (n.214+33166G=)
8g.142874391G>TCA463324899CYP11B1,GMLc.1494C>A (p.Thr498=)
n.1691C>A
c.1707C>A (p.Thr569=)
c.1296C>A (p.Thr432=)
c.528C>A (p.Thr176=)
c.181+33166G>T (n.181+33166G>T)
c.1732C>A (p.Leu578Ile)
c.1663C>A (p.Leu555Ile)
c.1654C>A (p.Leu552Ile)
c.1641C>A (p.Thr547=)
c.1572C>A (p.Thr524=)
c.1471C>A (p.Leu491Ile)
c.1443C>A (p.Thr481=)
c.214+33166G>T (n.214+33166G>T)
 COSMIC
8g.142874392G>ACA372390602CYP11B1,GMLc.1493C>T (p.Thr498Ile)
n.1690C>T
c.1706C>T (p.Thr569Ile)
c.1295C>T (p.Thr432Ile)
c.527C>T (p.Thr176Ile)
c.181+33167G>A (n.181+33167G>A)
c.1731C>T (p.His577=)
c.1662C>T (p.His554=)
c.1653C>T (p.His551=)
c.1640C>T (p.Thr547Ile)
c.1571C>T (p.Thr524Ile)
c.1470C>T (p.His490=)
c.1442C>T (p.Thr481Ile)
c.214+33167G>A (n.214+33167G>A)
 gnomAD v4
8g.142874392G>CCA372390601CYP11B1,GMLc.1493C>G (p.Thr498Ser)
n.1690C>G
c.1706C>G (p.Thr569Ser)
c.1295C>G (p.Thr432Ser)
c.527C>G (p.Thr176Ser)
c.181+33167G>C (n.181+33167G>C)
c.1731C>G (p.His577Gln)
c.1662C>G (p.His554Gln)
c.1653C>G (p.His551Gln)
c.1640C>G (p.Thr547Ser)
c.1571C>G (p.Thr524Ser)
c.1470C>G (p.His490Gln)
c.1442C>G (p.Thr481Ser)
c.214+33167G>C (n.214+33167G>C)
 gnomAD v4
8g.142874392G>TCA372390600CYP11B1,GMLc.1493C>A (p.Thr498Asn)
n.1690C>A
c.1706C>A (p.Thr569Asn)
c.1295C>A (p.Thr432Asn)
c.527C>A (p.Thr176Asn)
c.181+33167G>T (n.181+33167G>T)
c.1731C>A (p.His577Gln)
c.1662C>A (p.His554Gln)
c.1653C>A (p.His551Gln)
c.1640C>A (p.Thr547Asn)
c.1571C>A (p.Thr524Asn)
c.1470C>A (p.His490Gln)
c.1442C>A (p.Thr481Asn)
c.214+33167G>T (n.214+33167G>T)
8g.142874393T>ACA372390603CYP11B1,GMLc.1492A>T (p.Thr498Ser)
n.1689A>T
c.1705A>T (p.Thr569Ser)
c.1294A>T (p.Thr432Ser)
c.526A>T (p.Thr176Ser)
c.181+33168T>A (n.181+33168T>A)
c.1730A>T (p.His577Leu)
c.1661A>T (p.His554Leu)
c.1652A>T (p.His551Leu)
c.1639A>T (p.Thr547Ser)
c.1570A>T (p.Thr524Ser)
c.1469A>T (p.His490Leu)
c.1441A>T (p.Thr481Ser)
c.214+33168T>A (n.214+33168T>A)
8g.142874393T>CCA372390606CYP11B1,GMLc.1492A>G (p.Thr498Ala)
n.1689A>G
c.1705A>G (p.Thr569Ala)
c.1294A>G (p.Thr432Ala)
c.526A>G (p.Thr176Ala)
c.181+33168T>C (n.181+33168T>C)
c.1730A>G (p.His577Arg)
c.1661A>G (p.His554Arg)
c.1652A>G (p.His551Arg)
c.1639A>G (p.Thr547Ala)
c.1570A>G (p.Thr524Ala)
c.1469A>G (p.His490Arg)
c.1441A>G (p.Thr481Ala)
c.214+33168T>C (n.214+33168T>C)
8g.142874393T>GCA372390611CYP11B1,GMLc.1492A>C (p.Thr498Pro)
n.1689A>C
c.1705A>C (p.Thr569Pro)
c.1294A>C (p.Thr432Pro)
c.526A>C (p.Thr176Pro)
c.181+33168T>G (n.181+33168T>G)
c.1730A>C (p.His577Pro)
c.1661A>C (p.His554Pro)
c.1652A>C (p.His551Pro)
c.1639A>C (p.Thr547Pro)
c.1570A>C (p.Thr524Pro)
c.1469A>C (p.His490Pro)
c.1441A>C (p.Thr481Pro)
c.214+33168T>G (n.214+33168T>G)
 dbSNP
8g.142874393T=CA1825495772CYP11B1,GMLc.1492A= (p.Thr498=)
n.1689A=
c.1705A= (p.Thr569=)
c.1294A= (p.Thr432=)
c.526A= (p.Thr176=)
c.181+33168T= (n.181+33168T=)
c.1730A= (p.His577=)
c.1661A= (p.His554=)
c.1652A= (p.His551=)
c.1639A= (p.Thr547=)
c.1570A= (p.Thr524=)
c.1469A= (p.His490=)
c.1441A= (p.Thr481=)
c.214+33168T= (n.214+33168T=)
8g.142874394G>ACA463324908CYP11B1,GMLc.1491C>T (p.Leu497=)
n.1688C>T
c.1704C>T (p.Leu568=)
c.1293C>T (p.Leu431=)
c.525C>T (p.Leu175=)
c.181+33169G>A (n.181+33169G>A)
c.1729C>T (p.His577Tyr)
c.1660C>T (p.His554Tyr)
c.1651C>T (p.His551Tyr)
c.1638C>T (p.Leu546=)
c.1569C>T (p.Leu523=)
c.1468C>T (p.His490Tyr)
c.1440C>T (p.Leu480=)
c.214+33169G>A (n.214+33169G>A)
8g.142874394G>CCA463324910CYP11B1,GMLc.1491C>G (p.Leu497=)
n.1688C>G
c.1704C>G (p.Leu568=)
c.1293C>G (p.Leu431=)
c.525C>G (p.Leu175=)
c.181+33169G>C (n.181+33169G>C)
c.1729C>G (p.His577Asp)
c.1660C>G (p.His554Asp)
c.1651C>G (p.His551Asp)
c.1638C>G (p.Leu546=)
c.1569C>G (p.Leu523=)
c.1468C>G (p.His490Asp)
c.1440C>G (p.Leu480=)
c.214+33169G>C (n.214+33169G>C)
 ClinVar
8g.142874394G>TCA463324911CYP11B1,GMLc.1491C>A (p.Leu497=)
n.1688C>A
c.1704C>A (p.Leu568=)
c.1293C>A (p.Leu431=)
c.525C>A (p.Leu175=)
c.181+33169G>T (n.181+33169G>T)
c.1729C>A (p.His577Asn)
c.1660C>A (p.His554Asn)
c.1651C>A (p.His551Asn)
c.1638C>A (p.Leu546=)
c.1569C>A (p.Leu523=)
c.1468C>A (p.His490Asn)
c.1440C>A (p.Leu480=)
c.214+33169G>T (n.214+33169G>T)
8g.142874395A>CCA372390617CYP11B1,GMLc.1490T>G (p.Leu497Arg)
n.1687T>G
c.1703T>G (p.Leu568Arg)
c.1292T>G (p.Leu431Arg)
c.524T>G (p.Leu175Arg)
c.181+33170A>C (n.181+33170A>C)
c.1728T>G (p.Pro576=)
c.1659T>G (p.Pro553=)
c.1650T>G (p.Pro550=)
c.1637T>G (p.Leu546Arg)
c.1568T>G (p.Leu523Arg)
c.1467T>G (p.Pro489=)
c.1439T>G (p.Leu480Arg)
c.214+33170A>C (n.214+33170A>C)
8g.142874395A>GCA372390619CYP11B1,GMLc.1490T>C (p.Leu497Pro)
n.1687T>C
c.1703T>C (p.Leu568Pro)
c.1292T>C (p.Leu431Pro)
c.524T>C (p.Leu175Pro)
c.181+33170A>G (n.181+33170A>G)
c.1728T>C (p.Pro576=)
c.1659T>C (p.Pro553=)
c.1650T>C (p.Pro550=)
c.1637T>C (p.Leu546Pro)
c.1568T>C (p.Leu523Pro)
c.1467T>C (p.Pro489=)
c.1439T>C (p.Leu480Pro)
c.214+33170A>G (n.214+33170A>G)
8g.142874395A>TCA372390621CYP11B1,GMLc.1490T>A (p.Leu497His)
n.1687T>A
c.1703T>A (p.Leu568His)
c.1292T>A (p.Leu431His)
c.524T>A (p.Leu175His)
c.181+33170A>T (n.181+33170A>T)
c.1728T>A (p.Pro576=)
c.1659T>A (p.Pro553=)
c.1650T>A (p.Pro550=)
c.1637T>A (p.Leu546His)
c.1568T>A (p.Leu523His)
c.1467T>A (p.Pro489=)
c.1439T>A (p.Leu480His)
c.214+33170A>T (n.214+33170A>T)
8g.142874396G>ACA372390624CYP11B1,GMLc.1489C>T (p.Leu497Phe)
n.1686C>T
c.1702C>T (p.Leu568Phe)
c.1291C>T (p.Leu431Phe)
c.523C>T (p.Leu175Phe)
c.181+33171G>A (n.181+33171G>A)
c.1727C>T (p.Pro576Leu)
c.1658C>T (p.Pro553Leu)
c.1649C>T (p.Pro550Leu)
c.1636C>T (p.Leu546Phe)
c.1567C>T (p.Leu523Phe)
c.1466C>T (p.Pro489Leu)
c.1438C>T (p.Leu480Phe)
c.214+33171G>A (n.214+33171G>A)
8g.142874396G>CCA372390622CYP11B1,GMLc.1489C>G (p.Leu497Val)
n.1686C>G
c.1702C>G (p.Leu568Val)
c.1291C>G (p.Leu431Val)
c.523C>G (p.Leu175Val)
c.181+33171G>C (n.181+33171G>C)
c.1727C>G (p.Pro576Arg)
c.1658C>G (p.Pro553Arg)
c.1649C>G (p.Pro550Arg)
c.1636C>G (p.Leu546Val)
c.1567C>G (p.Leu523Val)
c.1466C>G (p.Pro489Arg)
c.1438C>G (p.Leu480Val)
c.214+33171G>C (n.214+33171G>C)
8g.142874396G>TCA372390623CYP11B1,GMLc.1489C>A (p.Leu497Ile)
n.1686C>A
c.1702C>A (p.Leu568Ile)
c.1291C>A (p.Leu431Ile)
c.523C>A (p.Leu175Ile)
c.181+33171G>T (n.181+33171G>T)
c.1727C>A (p.Pro576His)
c.1658C>A (p.Pro553His)
c.1649C>A (p.Pro550His)
c.1636C>A (p.Leu546Ile)
c.1567C>A (p.Leu523Ile)
c.1466C>A (p.Pro489His)
c.1438C>A (p.Leu480Ile)
c.214+33171G>T (n.214+33171G>T)
8g.142874397G>ACA4904939CYP11B1,GMLc.1488C>T (p.Leu496=)
n.1685C>T
c.1701C>T (p.Leu567=)
c.1290C>T (p.Leu430=)
c.522C>T (p.Leu174=)
c.181+33172G>A (n.181+33172G>A)
c.1726C>T (p.Pro576Ser)
c.1657C>T (p.Pro553Ser)
c.1648C>T (p.Pro550Ser)
c.1635C>T (p.Leu545=)
c.1566C>T (p.Leu522=)
c.1465C>T (p.Pro489Ser)
c.1437C>T (p.Leu479=)
c.214+33172G>A (n.214+33172G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874397G>CCA463324927CYP11B1,GMLc.1488C>G (p.Leu496=)
n.1685C>G
c.1701C>G (p.Leu567=)
c.1290C>G (p.Leu430=)
c.522C>G (p.Leu174=)
c.181+33172G>C (n.181+33172G>C)
c.1726C>G (p.Pro576Ala)
c.1657C>G (p.Pro553Ala)
c.1648C>G (p.Pro550Ala)
c.1635C>G (p.Leu545=)
c.1566C>G (p.Leu522=)
c.1465C>G (p.Pro489Ala)
c.1437C>G (p.Leu479=)
c.214+33172G>C (n.214+33172G>C)
 dbSNP
8g.142874397G=CA1825495773CYP11B1,GMLc.1488C= (p.Leu496=)
n.1685C=
c.1701C= (p.Leu567=)
c.1290C= (p.Leu430=)
c.522C= (p.Leu174=)
c.181+33172G= (n.181+33172G=)
c.1726C= (p.Pro576=)
c.1657C= (p.Pro553=)
c.1648C= (p.Pro550=)
c.1635C= (p.Leu545=)
c.1566C= (p.Leu522=)
c.1465C= (p.Pro489=)
c.1437C= (p.Leu479=)
c.214+33172G= (n.214+33172G=)
8g.142874397G>TCA4904940CYP11B1,GMLc.1488C>A (p.Leu496=)
n.1685C>A
c.1701C>A (p.Leu567=)
c.1290C>A (p.Leu430=)
c.522C>A (p.Leu174=)
c.181+33172G>T (n.181+33172G>T)
c.1726C>A (p.Pro576Thr)
c.1657C>A (p.Pro553Thr)
c.1648C>A (p.Pro550Thr)
c.1635C>A (p.Leu545=)
c.1566C>A (p.Leu522=)
c.1465C>A (p.Pro489Thr)
c.1437C>A (p.Leu479=)
c.214+33172G>T (n.214+33172G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874398_142874399delCA913128494CYP11B1,GMLc.1487_1488del (p.Leu496ProfsTer?)
n.1684_1685del
c.1700_1701del (p.Leu567ProfsTer?)
c.1289_1290del (p.Leu430ProfsTer?)
c.521_522del (p.Leu174ProfsTer?)
c.181+33173_181+33174del (n.181+33173_181+33174del)
c.1725_1726del (p.Pro576SerfsTer26)
c.1656_1657del (p.Pro553SerfsTer26)
c.1647_1648del (p.Pro550SerfsTer26)
c.1634_1635del (p.Leu545ProfsTer?)
c.1565_1566del (p.Leu522ProfsTer?)
c.1464_1465del (p.Pro489SerfsTer26)
c.1436_1437del (p.Leu479ProfsTer?)
c.214+33173_214+33174del (n.214+33173_214+33174del)
8g.142874398delCA2573332162CYP11B1,GMLc.1487del (p.Leu496ProfsTer27)
n.1684del
c.1700del (p.Leu567ProfsTer27)
c.1289del (p.Leu430ProfsTer27)
c.521del (p.Leu174ProfsTer27)
c.181+33173del (n.181+33173del)
c.1725del (p.Pro576LeufsTer8)
c.1656del (p.Pro553LeufsTer8)
c.1647del (p.Pro550LeufsTer8)
c.1634del (p.Leu545ProfsTer27)
c.1565del (p.Leu522ProfsTer27)
c.1464del (p.Pro489LeufsTer8)
c.1436del (p.Leu479ProfsTer27)
c.214+33173del (n.214+33173del)
 dbSNP gnomAD v3 gnomAD v4
8g.142874398A>CCA372390628CYP11B1,GMLc.1487T>G (p.Leu496Arg)
n.1684T>G
c.1700T>G (p.Leu567Arg)
c.1289T>G (p.Leu430Arg)
c.521T>G (p.Leu174Arg)
c.181+33173A>C (n.181+33173A>C)
c.1725T>G (p.Pro575=)
c.1656T>G (p.Pro552=)
c.1647T>G (p.Pro549=)
c.1634T>G (p.Leu545Arg)
c.1565T>G (p.Leu522Arg)
c.1464T>G (p.Pro488=)
c.1436T>G (p.Leu479Arg)
c.214+33173A>C (n.214+33173A>C)
8g.142874398A>GCA372390629CYP11B1,GMLc.1487T>C (p.Leu496Pro)
n.1684T>C
c.1700T>C (p.Leu567Pro)
c.1289T>C (p.Leu430Pro)
c.521T>C (p.Leu174Pro)
c.181+33173A>G (n.181+33173A>G)
c.1725T>C (p.Pro575=)
c.1656T>C (p.Pro552=)
c.1647T>C (p.Pro549=)
c.1634T>C (p.Leu545Pro)
c.1565T>C (p.Leu522Pro)
c.1464T>C (p.Pro488=)
c.1436T>C (p.Leu479Pro)
c.214+33173A>G (n.214+33173A>G)
8g.142874398A>TCA372390630CYP11B1,GMLc.1487T>A (p.Leu496His)
n.1684T>A
c.1700T>A (p.Leu567His)
c.1289T>A (p.Leu430His)
c.521T>A (p.Leu174His)
c.181+33173A>T (n.181+33173A>T)
c.1725T>A (p.Pro575=)
c.1656T>A (p.Pro552=)
c.1647T>A (p.Pro549=)
c.1634T>A (p.Leu545His)
c.1565T>A (p.Leu522His)
c.1464T>A (p.Pro488=)
c.1436T>A (p.Leu479His)
c.214+33173A>T (n.214+33173A>T)
8g.142874398_142874399delinsAGCA1825495774CYP11B1,GMLc.1486_1487delinsCT (p.Leu496=)
n.1683_1684delinsCT
c.1699_1700delinsCT (p.Leu567=)
c.1288_1289delinsCT (p.Leu430=)
c.520_521delinsCT (p.Leu174=)
c.181+33173_181+33174delinsAG (n.181+33173_181+33174delinsAG)
c.1724_1725delinsCT (p.Pro575=)
c.1655_1656delinsCT (p.Pro552=)
c.1646_1647delinsCT (p.Pro549=)
c.1633_1634delinsCT (p.Leu545=)
c.1564_1565delinsCT (p.Leu522=)
c.1463_1464delinsCT (p.Pro488=)
c.1435_1436delinsCT (p.Leu479=)
c.214+33173_214+33174delinsAG (n.214+33173_214+33174delinsAG)
8g.142874399G>ACA372390632CYP11B1,GMLc.1486C>T (p.Leu496Phe)
n.1683C>T
c.1699C>T (p.Leu567Phe)
c.1288C>T (p.Leu430Phe)
c.520C>T (p.Leu174Phe)
c.181+33174G>A (n.181+33174G>A)
c.1724C>T (p.Pro575Leu)
c.1655C>T (p.Pro552Leu)
c.1646C>T (p.Pro549Leu)
c.1633C>T (p.Leu545Phe)
c.1564C>T (p.Leu522Phe)
c.1463C>T (p.Pro488Leu)
c.1435C>T (p.Leu479Phe)
c.214+33174G>A (n.214+33174G>A)
8g.142874399G>CCA372390651CYP11B1,GMLc.1486C>G (p.Leu496Val)
n.1683C>G
c.1699C>G (p.Leu567Val)
c.1288C>G (p.Leu430Val)
c.520C>G (p.Leu174Val)
c.181+33174G>C (n.181+33174G>C)
c.1724C>G (p.Pro575Arg)
c.1655C>G (p.Pro552Arg)
c.1646C>G (p.Pro549Arg)
c.1633C>G (p.Leu545Val)
c.1564C>G (p.Leu522Val)
c.1463C>G (p.Pro488Arg)
c.1435C>G (p.Leu479Val)
c.214+33174G>C (n.214+33174G>C)
8g.142874399G>TCA372390640CYP11B1,GMLc.1486C>A (p.Leu496Ile)
n.1683C>A
c.1699C>A (p.Leu567Ile)
c.1288C>A (p.Leu430Ile)
c.520C>A (p.Leu174Ile)
c.181+33174G>T (n.181+33174G>T)
c.1724C>A (p.Pro575His)
c.1655C>A (p.Pro552His)
c.1646C>A (p.Pro549His)
c.1633C>A (p.Leu545Ile)
c.1564C>A (p.Leu522Ile)
c.1463C>A (p.Pro488His)
c.1435C>A (p.Leu479Ile)
c.214+33174G>T (n.214+33174G>T)
8g.142874403delCA658823247CYP11B1,GMLc.1486del (p.Leu496SerfsTer27)
n.1683del
c.1699del (p.Leu567SerfsTer27)
c.1288del (p.Leu430SerfsTer27)
c.520del (p.Leu174SerfsTer27)
c.181+33178del (n.181+33178del)
c.1724del (p.Pro575LeufsTer9)
c.1655del (p.Pro552LeufsTer9)
c.1646del (p.Pro549LeufsTer9)
c.1633del (p.Leu545SerfsTer27)
c.1564del (p.Leu522SerfsTer27)
c.1463del (p.Pro488LeufsTer9)
c.1435del (p.Leu479SerfsTer27)
c.214+33178del (n.214+33178del)
 ClinVar dbSNP gnomAD v4
8g.142874400G>ACA463324937CYP11B1,GMLc.1485C>T (p.Pro495=)
n.1682C>T
c.1698C>T (p.Pro566=)
c.1287C>T (p.Pro429=)
c.519C>T (p.Pro173=)
c.181+33175G>A (n.181+33175G>A)
c.1723C>T (p.Pro575Ser)
c.1654C>T (p.Pro552Ser)
c.1645C>T (p.Pro549Ser)
c.1632C>T (p.Pro544=)
c.1563C>T (p.Pro521=)
c.1462C>T (p.Pro488Ser)
c.1434C>T (p.Pro478=)
c.214+33175G>A (n.214+33175G>A)
8g.142874400G>CCA463324939CYP11B1,GMLc.1485C>G (p.Pro495=)
n.1682C>G
c.1698C>G (p.Pro566=)
c.1287C>G (p.Pro429=)
c.519C>G (p.Pro173=)
c.181+33175G>C (n.181+33175G>C)
c.1723C>G (p.Pro575Ala)
c.1654C>G (p.Pro552Ala)
c.1645C>G (p.Pro549Ala)
c.1632C>G (p.Pro544=)
c.1563C>G (p.Pro521=)
c.1462C>G (p.Pro488Ala)
c.1434C>G (p.Pro478=)
c.214+33175G>C (n.214+33175G>C)
 dbSNP gnomAD v3 gnomAD v4
8g.142874400G=CA1825495775CYP11B1,GMLc.1485C= (p.Pro495=)
n.1682C=
c.1698C= (p.Pro566=)
c.1287C= (p.Pro429=)
c.519C= (p.Pro173=)
c.181+33175G= (n.181+33175G=)
c.1723C= (p.Pro575=)
c.1654C= (p.Pro552=)
c.1645C= (p.Pro549=)
c.1632C= (p.Pro544=)
c.1563C= (p.Pro521=)
c.1462C= (p.Pro488=)
c.1434C= (p.Pro478=)
c.214+33175G= (n.214+33175G=)
8g.142874400G>TCA463324941CYP11B1,GMLc.1485C>A (p.Pro495=)
n.1682C>A
c.1698C>A (p.Pro566=)
c.1287C>A (p.Pro429=)
c.519C>A (p.Pro173=)
c.181+33175G>T (n.181+33175G>T)
c.1723C>A (p.Pro575Thr)
c.1654C>A (p.Pro552Thr)
c.1645C>A (p.Pro549Thr)
c.1632C>A (p.Pro544=)
c.1563C>A (p.Pro521=)
c.1462C>A (p.Pro488Thr)
c.1434C>A (p.Pro478=)
c.214+33175G>T (n.214+33175G>T)
 dbSNP gnomAD v3 gnomAD v4
8g.142874401G>ACA372390656CYP11B1,GMLc.1484C>T (p.Pro495Leu)
n.1681C>T
c.1697C>T (p.Pro566Leu)
c.1286C>T (p.Pro429Leu)
c.518C>T (p.Pro173Leu)
c.181+33176G>A (n.181+33176G>A)
c.1722C>T (p.Pro574=)
c.1653C>T (p.Pro551=)
c.1644C>T (p.Pro548=)
c.1631C>T (p.Pro544Leu)
c.1562C>T (p.Pro521Leu)
c.1461C>T (p.Pro487=)
c.1433C>T (p.Pro478Leu)
c.214+33176G>A (n.214+33176G>A)
8g.142874401G>CCA372390659CYP11B1,GMLc.1484C>G (p.Pro495Arg)
n.1681C>G
c.1697C>G (p.Pro566Arg)
c.1286C>G (p.Pro429Arg)
c.518C>G (p.Pro173Arg)
c.181+33176G>C (n.181+33176G>C)
c.1722C>G (p.Pro574=)
c.1653C>G (p.Pro551=)
c.1644C>G (p.Pro548=)
c.1631C>G (p.Pro544Arg)
c.1562C>G (p.Pro521Arg)
c.1461C>G (p.Pro487=)
c.1433C>G (p.Pro478Arg)
c.214+33176G>C (n.214+33176G>C)
8g.142874401G>TCA372390661CYP11B1,GMLc.1484C>A (p.Pro495His)
n.1681C>A
c.1697C>A (p.Pro566His)
c.1286C>A (p.Pro429His)
c.518C>A (p.Pro173His)
c.181+33176G>T (n.181+33176G>T)
c.1722C>A (p.Pro574=)
c.1653C>A (p.Pro551=)
c.1644C>A (p.Pro548=)
c.1631C>A (p.Pro544His)
c.1562C>A (p.Pro521His)
c.1461C>A (p.Pro487=)
c.1433C>A (p.Pro478His)
c.214+33176G>T (n.214+33176G>T)
8g.142874402G>ACA372390662CYP11B1,GMLc.1483C>T (p.Pro495Ser)
n.1680C>T
c.1696C>T (p.Pro566Ser)
c.1285C>T (p.Pro429Ser)
c.517C>T (p.Pro173Ser)
c.181+33177G>A (n.181+33177G>A)
c.1721C>T (p.Pro574Leu)
c.1652C>T (p.Pro551Leu)
c.1643C>T (p.Pro548Leu)
c.1630C>T (p.Pro544Ser)
c.1561C>T (p.Pro521Ser)
c.1460C>T (p.Pro487Leu)
c.1432C>T (p.Pro478Ser)
c.214+33177G>A (n.214+33177G>A)
8g.142874402G>CCA372390663CYP11B1,GMLc.1483C>G (p.Pro495Ala)
n.1680C>G
c.1696C>G (p.Pro566Ala)
c.1285C>G (p.Pro429Ala)
c.517C>G (p.Pro173Ala)
c.181+33177G>C (n.181+33177G>C)
c.1721C>G (p.Pro574Arg)
c.1652C>G (p.Pro551Arg)
c.1643C>G (p.Pro548Arg)
c.1630C>G (p.Pro544Ala)
c.1561C>G (p.Pro521Ala)
c.1460C>G (p.Pro487Arg)
c.1432C>G (p.Pro478Ala)
c.214+33177G>C (n.214+33177G>C)
8g.142874402G>TCA372390664CYP11B1,GMLc.1483C>A (p.Pro495Thr)
n.1680C>A
c.1696C>A (p.Pro566Thr)
c.1285C>A (p.Pro429Thr)
c.517C>A (p.Pro173Thr)
c.181+33177G>T (n.181+33177G>T)
c.1721C>A (p.Pro574His)
c.1652C>A (p.Pro551His)
c.1643C>A (p.Pro548His)
c.1630C>A (p.Pro544Thr)
c.1561C>A (p.Pro521Thr)
c.1460C>A (p.Pro487His)
c.1432C>A (p.Pro478Thr)
c.214+33177G>T (n.214+33177G>T)
8g.142874403G>ACA463324950CYP11B1,GMLc.1482C>T (p.Phe494=)
n.1679C>T
c.1695C>T (p.Phe565=)
c.1284C>T (p.Phe428=)
c.516C>T (p.Phe172=)
c.181+33178G>A (n.181+33178G>A)
c.1720C>T (p.Pro574Ser)
c.1651C>T (p.Pro551Ser)
c.1642C>T (p.Pro548Ser)
c.1629C>T (p.Phe543=)
c.1560C>T (p.Phe520=)
c.1459C>T (p.Pro487Ser)
c.1431C>T (p.Phe477=)
c.214+33178G>A (n.214+33178G>A)
8g.142874403G>CCA372390666CYP11B1,GMLc.1482C>G (p.Phe494Leu)
n.1679C>G
c.1695C>G (p.Phe565Leu)
c.1284C>G (p.Phe428Leu)
c.516C>G (p.Phe172Leu)
c.181+33178G>C (n.181+33178G>C)
c.1720C>G (p.Pro574Ala)
c.1651C>G (p.Pro551Ala)
c.1642C>G (p.Pro548Ala)
c.1629C>G (p.Phe543Leu)
c.1560C>G (p.Phe520Leu)
c.1459C>G (p.Pro487Ala)
c.1431C>G (p.Phe477Leu)
c.214+33178G>C (n.214+33178G>C)
8g.142874403G>TCA372390667CYP11B1,GMLc.1482C>A (p.Phe494Leu)
n.1679C>A
c.1695C>A (p.Phe565Leu)
c.1284C>A (p.Phe428Leu)
c.516C>A (p.Phe172Leu)
c.181+33178G>T (n.181+33178G>T)
c.1720C>A (p.Pro574Thr)
c.1651C>A (p.Pro551Thr)
c.1642C>A (p.Pro548Thr)
c.1629C>A (p.Phe543Leu)
c.1560C>A (p.Phe520Leu)
c.1459C>A (p.Pro487Thr)
c.1431C>A (p.Phe477Leu)
c.214+33178G>T (n.214+33178G>T)
8g.142874404A>CCA372390668CYP11B1,GMLc.1481T>G (p.Phe494Cys)
n.1678T>G
c.1694T>G (p.Phe565Cys)
c.1283T>G (p.Phe428Cys)
c.515T>G (p.Phe172Cys)
c.181+33179A>C (n.181+33179A>C)
c.1719T>G (p.Val573=)
c.1650T>G (p.Val550=)
c.1641T>G (p.Val547=)
c.1628T>G (p.Phe543Cys)
c.1559T>G (p.Phe520Cys)
c.1458T>G (p.Val486=)
c.1430T>G (p.Phe477Cys)
c.214+33179A>C (n.214+33179A>C)
8g.142874404A>GCA372390670CYP11B1,GMLc.1481T>C (p.Phe494Ser)
n.1678T>C
c.1694T>C (p.Phe565Ser)
c.1283T>C (p.Phe428Ser)
c.515T>C (p.Phe172Ser)
c.181+33179A>G (n.181+33179A>G)
c.1719T>C (p.Val573=)
c.1650T>C (p.Val550=)
c.1641T>C (p.Val547=)
c.1628T>C (p.Phe543Ser)
c.1559T>C (p.Phe520Ser)
c.1458T>C (p.Val486=)
c.1430T>C (p.Phe477Ser)
c.214+33179A>G (n.214+33179A>G)
 gnomAD v4
8g.142874404A>TCA372390672CYP11B1,GMLc.1481T>A (p.Phe494Tyr)
n.1678T>A
c.1694T>A (p.Phe565Tyr)
c.1283T>A (p.Phe428Tyr)
c.515T>A (p.Phe172Tyr)
c.181+33179A>T (n.181+33179A>T)
c.1719T>A (p.Val573=)
c.1650T>A (p.Val550=)
c.1641T>A (p.Val547=)
c.1628T>A (p.Phe543Tyr)
c.1559T>A (p.Phe520Tyr)
c.1458T>A (p.Val486=)
c.1430T>A (p.Phe477Tyr)
c.214+33179A>T (n.214+33179A>T)
8g.142874405A>CCA372390679CYP11B1,GMLc.1480T>G (p.Phe494Val)
n.1677T>G
c.1693T>G (p.Phe565Val)
c.1282T>G (p.Phe428Val)
c.514T>G (p.Phe172Val)
c.181+33180A>C (n.181+33180A>C)
c.1718T>G (p.Val573Gly)
c.1649T>G (p.Val550Gly)
c.1640T>G (p.Val547Gly)
c.1627T>G (p.Phe543Val)
c.1558T>G (p.Phe520Val)
c.1457T>G (p.Val486Gly)
c.1429T>G (p.Phe477Val)
c.214+33180A>C (n.214+33180A>C)
8g.142874405A>GCA372390681CYP11B1,GMLc.1480T>C (p.Phe494Leu)
n.1677T>C
c.1693T>C (p.Phe565Leu)
c.1282T>C (p.Phe428Leu)
c.514T>C (p.Phe172Leu)
c.181+33180A>G (n.181+33180A>G)
c.1718T>C (p.Val573Ala)
c.1649T>C (p.Val550Ala)
c.1640T>C (p.Val547Ala)
c.1627T>C (p.Phe543Leu)
c.1558T>C (p.Phe520Leu)
c.1457T>C (p.Val486Ala)
c.1429T>C (p.Phe477Leu)
c.214+33180A>G (n.214+33180A>G)
8g.142874405A>TCA372390675CYP11B1,GMLc.1480T>A (p.Phe494Ile)
n.1677T>A
c.1693T>A (p.Phe565Ile)
c.1282T>A (p.Phe428Ile)
c.514T>A (p.Phe172Ile)
c.181+33180A>T (n.181+33180A>T)
c.1718T>A (p.Val573Asp)
c.1649T>A (p.Val550Asp)
c.1640T>A (p.Val547Asp)
c.1627T>A (p.Phe543Ile)
c.1558T>A (p.Phe520Ile)
c.1457T>A (p.Val486Asp)
c.1429T>A (p.Phe477Ile)
c.214+33180A>T (n.214+33180A>T)
8g.142874406C>ACA372390685CYP11B1,GMLc.1479G>T (p.Met493Ile)
n.1676G>T
c.1692G>T (p.Met564Ile)
c.1281G>T (p.Met427Ile)
c.513G>T (p.Met171Ile)
c.181+33181C>A (n.181+33181C>A)
c.1717G>T (p.Val573Phe)
c.1648G>T (p.Val550Phe)
c.1639G>T (p.Val547Phe)
c.1626G>T (p.Met542Ile)
c.1557G>T (p.Met519Ile)
c.1456G>T (p.Val486Phe)
c.1428G>T (p.Met476Ile)
c.214+33181C>A (n.214+33181C>A)
 dbSNP gnomAD v3 gnomAD v4
8g.142874406C=CA1825495776CYP11B1,GMLc.1479G= (p.Met493=)
n.1676G=
c.1692G= (p.Met564=)
c.1281G= (p.Met427=)
c.513G= (p.Met171=)
c.181+33181C= (n.181+33181C=)
c.1717G= (p.Val573=)
c.1648G= (p.Val550=)
c.1639G= (p.Val547=)
c.1626G= (p.Met542=)
c.1557G= (p.Met519=)
c.1456G= (p.Val486=)
c.1428G= (p.Met476=)
c.214+33181C= (n.214+33181C=)
8g.142874406C>GCA372390684CYP11B1,GMLc.1479G>C (p.Met493Ile)
n.1676G>C
c.1692G>C (p.Met564Ile)
c.1281G>C (p.Met427Ile)
c.513G>C (p.Met171Ile)
c.181+33181C>G (n.181+33181C>G)
c.1717G>C (p.Val573Leu)
c.1648G>C (p.Val550Leu)
c.1639G>C (p.Val547Leu)
c.1626G>C (p.Met542Ile)
c.1557G>C (p.Met519Ile)
c.1456G>C (p.Val486Leu)
c.1428G>C (p.Met476Ile)
c.214+33181C>G (n.214+33181C>G)
8g.142874406C>TCA4904941CYP11B1,GMLc.1479G>A (p.Met493Ile)
n.1676G>A
c.1692G>A (p.Met564Ile)
c.1281G>A (p.Met427Ile)
c.513G>A (p.Met171Ile)
c.181+33181C>T (n.181+33181C>T)
c.1717G>A (p.Val573Ile)
c.1648G>A (p.Val550Ile)
c.1639G>A (p.Val547Ile)
c.1626G>A (p.Met542Ile)
c.1557G>A (p.Met519Ile)
c.1456G>A (p.Val486Ile)
c.1428G>A (p.Met476Ile)
c.214+33181C>T (n.214+33181C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874407A>CCA372390688CYP11B1,GMLc.1478T>G (p.Met493Arg)
n.1675T>G
c.1691T>G (p.Met564Arg)
c.1280T>G (p.Met427Arg)
c.512T>G (p.Met171Arg)
c.181+33182A>C (n.181+33182A>C)
c.1716T>G (p.His572Gln)
c.1647T>G (p.His549Gln)
c.1638T>G (p.His546Gln)
c.1625T>G (p.Met542Arg)
c.1556T>G (p.Met519Arg)
c.1455T>G (p.His485Gln)
c.1427T>G (p.Met476Arg)
c.214+33182A>C (n.214+33182A>C)
8g.142874407A>GCA372390689CYP11B1,GMLc.1478T>C (p.Met493Thr)
n.1675T>C
c.1691T>C (p.Met564Thr)
c.1280T>C (p.Met427Thr)
c.512T>C (p.Met171Thr)
c.181+33182A>G (n.181+33182A>G)
c.1716T>C (p.His572=)
c.1647T>C (p.His549=)
c.1638T>C (p.His546=)
c.1625T>C (p.Met542Thr)
c.1556T>C (p.Met519Thr)
c.1455T>C (p.His485=)
c.1427T>C (p.Met476Thr)
c.214+33182A>G (n.214+33182A>G)
 gnomAD v4
8g.142874407A>TCA372390693CYP11B1,GMLc.1478T>A (p.Met493Lys)
n.1675T>A
c.1691T>A (p.Met564Lys)
c.1280T>A (p.Met427Lys)
c.512T>A (p.Met171Lys)
c.181+33182A>T (n.181+33182A>T)
c.1716T>A (p.His572Gln)
c.1647T>A (p.His549Gln)
c.1638T>A (p.His546Gln)
c.1625T>A (p.Met542Lys)
c.1556T>A (p.Met519Lys)
c.1455T>A (p.His485Gln)
c.1427T>A (p.Met476Lys)
c.214+33182A>T (n.214+33182A>T)
8g.142874408T>ACA372390697CYP11B1,GMLc.1477A>T (p.Met493Leu)
n.1674A>T
c.1690A>T (p.Met564Leu)
c.1279A>T (p.Met427Leu)
c.511A>T (p.Met171Leu)
c.181+33183T>A (n.181+33183T>A)
c.1715A>T (p.His572Leu)
c.1646A>T (p.His549Leu)
c.1637A>T (p.His546Leu)
c.1624A>T (p.Met542Leu)
c.1555A>T (p.Met519Leu)
c.1454A>T (p.His485Leu)
c.1426A>T (p.Met476Leu)
c.214+33183T>A (n.214+33183T>A)
8g.142874408T>CCA372390700CYP11B1,GMLc.1477A>G (p.Met493Val)
n.1674A>G
c.1690A>G (p.Met564Val)
c.1279A>G (p.Met427Val)
c.511A>G (p.Met171Val)
c.181+33183T>C (n.181+33183T>C)
c.1715A>G (p.His572Arg)
c.1646A>G (p.His549Arg)
c.1637A>G (p.His546Arg)
c.1624A>G (p.Met542Val)
c.1555A>G (p.Met519Val)
c.1454A>G (p.His485Arg)
c.1426A>G (p.Met476Val)
c.214+33183T>C (n.214+33183T>C)
8g.142874408T>GCA372390703CYP11B1,GMLc.1477A>C (p.Met493Leu)
n.1674A>C
c.1690A>C (p.Met564Leu)
c.1279A>C (p.Met427Leu)
c.511A>C (p.Met171Leu)
c.181+33183T>G (n.181+33183T>G)
c.1715A>C (p.His572Pro)
c.1646A>C (p.His549Pro)
c.1637A>C (p.His546Pro)
c.1624A>C (p.Met542Leu)
c.1555A>C (p.Met519Leu)
c.1454A>C (p.His485Pro)
c.1426A>C (p.Met476Leu)
c.214+33183T>G (n.214+33183T>G)
8g.142874409G>ACA463324972CYP11B1,GMLc.1476C>T (p.Ser492=)
n.1673C>T
c.1689C>T (p.Ser563=)
c.1278C>T (p.Ser426=)
c.510C>T (p.Ser170=)
c.181+33184G>A (n.181+33184G>A)
c.1714C>T (p.His572Tyr)
c.1645C>T (p.His549Tyr)
c.1636C>T (p.His546Tyr)
c.1623C>T (p.Ser541=)
c.1554C>T (p.Ser518=)
c.1453C>T (p.His485Tyr)
c.1425C>T (p.Ser475=)
c.214+33184G>A (n.214+33184G>A)
8g.142874409G>CCA372390709CYP11B1,GMLc.1476C>G (p.Ser492Arg)
n.1673C>G
c.1689C>G (p.Ser563Arg)
c.1278C>G (p.Ser426Arg)
c.510C>G (p.Ser170Arg)
c.181+33184G>C (n.181+33184G>C)
c.1714C>G (p.His572Asp)
c.1645C>G (p.His549Asp)
c.1636C>G (p.His546Asp)
c.1623C>G (p.Ser541Arg)
c.1554C>G (p.Ser518Arg)
c.1453C>G (p.His485Asp)
c.1425C>G (p.Ser475Arg)
c.214+33184G>C (n.214+33184G>C)
8g.142874409G>TCA372390706CYP11B1,GMLc.1476C>A (p.Ser492Arg)
n.1673C>A
c.1689C>A (p.Ser563Arg)
c.1278C>A (p.Ser426Arg)
c.510C>A (p.Ser170Arg)
c.181+33184G>T (n.181+33184G>T)
c.1714C>A (p.His572Asn)
c.1645C>A (p.His549Asn)
c.1636C>A (p.His546Asn)
c.1623C>A (p.Ser541Arg)
c.1554C>A (p.Ser518Arg)
c.1453C>A (p.His485Asn)
c.1425C>A (p.Ser475Arg)
c.214+33184G>T (n.214+33184G>T)
 ClinVar gnomAD v4
8g.142874410C>ACA372390713CYP11B1,GMLc.1475G>T (p.Ser492Ile)
n.1672G>T
c.1688G>T (p.Ser563Ile)
c.1277G>T (p.Ser426Ile)
c.509G>T (p.Ser170Ile)
c.181+33185C>A (n.181+33185C>A)
c.1713G>T (p.Gln571His)
c.1644G>T (p.Gln548His)
c.1635G>T (p.Gln545His)
c.1622G>T (p.Ser541Ile)
c.1553G>T (p.Ser518Ile)
c.1452G>T (p.Gln484His)
c.1424G>T (p.Ser475Ile)
c.214+33185C>A (n.214+33185C>A)
8g.142874410C=CA1825495777CYP11B1,GMLc.1475G= (p.Ser492=)
n.1672G=
c.1688G= (p.Ser563=)
c.1277G= (p.Ser426=)
c.509G= (p.Ser170=)
c.181+33185C= (n.181+33185C=)
c.1713G= (p.Gln571=)
c.1644G= (p.Gln548=)
c.1635G= (p.Gln545=)
c.1622G= (p.Ser541=)
c.1553G= (p.Ser518=)
c.1452G= (p.Gln484=)
c.1424G= (p.Ser475=)
c.214+33185C= (n.214+33185C=)
8g.142874410C>GCA372390721CYP11B1,GMLc.1475G>C (p.Ser492Thr)
n.1672G>C
c.1688G>C (p.Ser563Thr)
c.1277G>C (p.Ser426Thr)
c.509G>C (p.Ser170Thr)
c.181+33185C>G (n.181+33185C>G)
c.1713G>C (p.Gln571His)
c.1644G>C (p.Gln548His)
c.1635G>C (p.Gln545His)
c.1622G>C (p.Ser541Thr)
c.1553G>C (p.Ser518Thr)
c.1452G>C (p.Gln484His)
c.1424G>C (p.Ser475Thr)
c.214+33185C>G (n.214+33185C>G)
8g.142874410C>TCA4904942CYP11B1,GMLc.1475G>A (p.Ser492Asn)
n.1672G>A
c.1688G>A (p.Ser563Asn)
c.1277G>A (p.Ser426Asn)
c.509G>A (p.Ser170Asn)
c.181+33185C>T (n.181+33185C>T)
c.1713G>A (p.Gln571=)
c.1644G>A (p.Gln548=)
c.1635G>A (p.Gln545=)
c.1622G>A (p.Ser541Asn)
c.1553G>A (p.Ser518Asn)
c.1452G>A (p.Gln484=)
c.1424G>A (p.Ser475Asn)
c.214+33185C>T (n.214+33185C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874411T>ACA4904943CYP11B1,GMLc.1474A>T (p.Ser492Cys)
n.1671A>T
c.1687A>T (p.Ser563Cys)
c.1276A>T (p.Ser426Cys)
c.508A>T (p.Ser170Cys)
c.181+33186T>A (n.181+33186T>A)
c.1712A>T (p.Gln571Leu)
c.1643A>T (p.Gln548Leu)
c.1634A>T (p.Gln545Leu)
c.1621A>T (p.Ser541Cys)
c.1552A>T (p.Ser518Cys)
c.1451A>T (p.Gln484Leu)
c.1423A>T (p.Ser475Cys)
c.214+33186T>A (n.214+33186T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874411T>CCA372390727CYP11B1,GMLc.1474A>G (p.Ser492Gly)
n.1671A>G
c.1687A>G (p.Ser563Gly)
c.1276A>G (p.Ser426Gly)
c.508A>G (p.Ser170Gly)
c.181+33186T>C (n.181+33186T>C)
c.1712A>G (p.Gln571Arg)
c.1643A>G (p.Gln548Arg)
c.1634A>G (p.Gln545Arg)
c.1621A>G (p.Ser541Gly)
c.1552A>G (p.Ser518Gly)
c.1451A>G (p.Gln484Arg)
c.1423A>G (p.Ser475Gly)
c.214+33186T>C (n.214+33186T>C)
 gnomAD v4
8g.142874411T>GCA372390730CYP11B1,GMLc.1474A>C (p.Ser492Arg)
n.1671A>C
c.1687A>C (p.Ser563Arg)
c.1276A>C (p.Ser426Arg)
c.508A>C (p.Ser170Arg)
c.181+33186T>G (n.181+33186T>G)
c.1712A>C (p.Gln571Pro)
c.1643A>C (p.Gln548Pro)
c.1634A>C (p.Gln545Pro)
c.1621A>C (p.Ser541Arg)
c.1552A>C (p.Ser518Arg)
c.1451A>C (p.Gln484Pro)
c.1423A>C (p.Ser475Arg)
c.214+33186T>G (n.214+33186T>G)
8g.142874411T=CA1825495778CYP11B1,GMLc.1474A= (p.Ser492=)
n.1671A=
c.1687A= (p.Ser563=)
c.1276A= (p.Ser426=)
c.508A= (p.Ser170=)
c.181+33186T= (n.181+33186T=)
c.1712A= (p.Gln571=)
c.1643A= (p.Gln548=)
c.1634A= (p.Gln545=)
c.1621A= (p.Ser541=)
c.1552A= (p.Ser518=)
c.1451A= (p.Gln484=)
c.1423A= (p.Ser475=)
c.214+33186T= (n.214+33186T=)
8g.142874412G>ACA463324984CYP11B1,GMLc.1473C>T (p.Pro491=)
n.1670C>T
c.1686C>T (p.Pro562=)
c.1275C>T (p.Pro425=)
c.507C>T (p.Pro169=)
c.181+33187G>A (n.181+33187G>A)
c.1711C>T (p.Gln571Ter)
c.1642C>T (p.Gln548Ter)
c.1633C>T (p.Gln545Ter)
c.1620C>T (p.Pro540=)
c.1551C>T (p.Pro517=)
c.1450C>T (p.Gln484Ter)
c.1422C>T (p.Pro474=)
c.214+33187G>A (n.214+33187G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.142874412G>CCA463324986CYP11B1,GMLc.1473C>G (p.Pro491=)
n.1670C>G
c.1686C>G (p.Pro562=)
c.1275C>G (p.Pro425=)
c.507C>G (p.Pro169=)
c.181+33187G>C (n.181+33187G>C)
c.1711C>G (p.Gln571Glu)
c.1642C>G (p.Gln548Glu)
c.1633C>G (p.Gln545Glu)
c.1620C>G (p.Pro540=)
c.1551C>G (p.Pro517=)
c.1450C>G (p.Gln484Glu)
c.1422C>G (p.Pro474=)
c.214+33187G>C (n.214+33187G>C)
8g.142874412G=CA1825495779CYP11B1,GMLc.1473C= (p.Pro491=)
n.1670C=
c.1686C= (p.Pro562=)
c.1275C= (p.Pro425=)
c.507C= (p.Pro169=)
c.181+33187G= (n.181+33187G=)
c.1711C= (p.Gln571=)
c.1642C= (p.Gln548=)
c.1633C= (p.Gln545=)
c.1620C= (p.Pro540=)
c.1551C= (p.Pro517=)
c.1450C= (p.Gln484=)
c.1422C= (p.Pro474=)
c.214+33187G= (n.214+33187G=)
8g.142874412G>TCA463324983CYP11B1,GMLc.1473C>A (p.Pro491=)
n.1670C>A
c.1686C>A (p.Pro562=)
c.1275C>A (p.Pro425=)
c.507C>A (p.Pro169=)
c.181+33187G>T (n.181+33187G>T)
c.1711C>A (p.Gln571Lys)
c.1642C>A (p.Gln548Lys)
c.1633C>A (p.Gln545Lys)
c.1620C>A (p.Pro540=)
c.1551C>A (p.Pro517=)
c.1450C>A (p.Gln484Lys)
c.1422C>A (p.Pro474=)
c.214+33187G>T (n.214+33187G>T)
 gnomAD v4
8g.142874413G>ACA372390732CYP11B1,GMLc.1472C>T (p.Pro491Leu)
n.1669C>T
c.1685C>T (p.Pro562Leu)
c.1274C>T (p.Pro425Leu)
c.506C>T (p.Pro169Leu)
c.181+33188G>A (n.181+33188G>A)
c.1710C>T (p.Ala570=)
c.1641C>T (p.Ala547=)
c.1632C>T (p.Ala544=)
c.1619C>T (p.Pro540Leu)
c.1550C>T (p.Pro517Leu)
c.1449C>T (p.Ala483=)
c.1421C>T (p.Pro474Leu)
c.214+33188G>A (n.214+33188G>A)
8g.142874413G>CCA372390736CYP11B1,GMLc.1472C>G (p.Pro491Arg)
n.1669C>G
c.1685C>G (p.Pro562Arg)
c.1274C>G (p.Pro425Arg)
c.506C>G (p.Pro169Arg)
c.181+33188G>C (n.181+33188G>C)
c.1710C>G (p.Ala570=)
c.1641C>G (p.Ala547=)
c.1632C>G (p.Ala544=)
c.1619C>G (p.Pro540Arg)
c.1550C>G (p.Pro517Arg)
c.1449C>G (p.Ala483=)
c.1421C>G (p.Pro474Arg)
c.214+33188G>C (n.214+33188G>C)
 dbSNP
8g.142874413G=CA1825495780CYP11B1,GMLc.1472C= (p.Pro491=)
n.1669C=
c.1685C= (p.Pro562=)
c.1274C= (p.Pro425=)
c.506C= (p.Pro169=)
c.181+33188G= (n.181+33188G=)
c.1710C= (p.Ala570=)
c.1641C= (p.Ala547=)
c.1632C= (p.Ala544=)
c.1619C= (p.Pro540=)
c.1550C= (p.Pro517=)
c.1449C= (p.Ala483=)
c.1421C= (p.Pro474=)
c.214+33188G= (n.214+33188G=)
8g.142874413G>TCA372390734CYP11B1,GMLc.1472C>A (p.Pro491His)
n.1669C>A
c.1685C>A (p.Pro562His)
c.1274C>A (p.Pro425His)
c.506C>A (p.Pro169His)
c.181+33188G>T (n.181+33188G>T)
c.1710C>A (p.Ala570=)
c.1641C>A (p.Ala547=)
c.1632C>A (p.Ala544=)
c.1619C>A (p.Pro540His)
c.1550C>A (p.Pro517His)
c.1449C>A (p.Ala483=)
c.1421C>A (p.Pro474His)
c.214+33188G>T (n.214+33188G>T)
8g.142874414G>ACA372390739CYP11B1,GMLc.1471C>T (p.Pro491Ser)
n.1668C>T
c.1684C>T (p.Pro562Ser)
c.1273C>T (p.Pro425Ser)
c.505C>T (p.Pro169Ser)
c.181+33189G>A (n.181+33189G>A)
c.1709C>T (p.Ala570Val)
c.1640C>T (p.Ala547Val)
c.1631C>T (p.Ala544Val)
c.1618C>T (p.Pro540Ser)
c.1549C>T (p.Pro517Ser)
c.1448C>T (p.Ala483Val)
c.1420C>T (p.Pro474Ser)
c.214+33189G>A (n.214+33189G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.142874414G>CCA372390748CYP11B1,GMLc.1471C>G (p.Pro491Ala)
n.1668C>G
c.1684C>G (p.Pro562Ala)
c.1273C>G (p.Pro425Ala)
c.505C>G (p.Pro169Ala)
c.181+33189G>C (n.181+33189G>C)
c.1709C>G (p.Ala570Gly)
c.1640C>G (p.Ala547Gly)
c.1631C>G (p.Ala544Gly)
c.1618C>G (p.Pro540Ala)
c.1549C>G (p.Pro517Ala)
c.1448C>G (p.Ala483Gly)
c.1420C>G (p.Pro474Ala)
c.214+33189G>C (n.214+33189G>C)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.142874414G=CA1825495781CYP11B1,GMLc.1471C= (p.Pro491=)
n.1668C=
c.1684C= (p.Pro562=)
c.1273C= (p.Pro425=)
c.505C= (p.Pro169=)
c.181+33189G= (n.181+33189G=)
c.1709C= (p.Ala570=)
c.1640C= (p.Ala547=)
c.1631C= (p.Ala544=)
c.1618C= (p.Pro540=)
c.1549C= (p.Pro517=)
c.1448C= (p.Ala483=)
c.1420C= (p.Pro474=)
c.214+33189G= (n.214+33189G=)
8g.142874414G>TCA372390752CYP11B1,GMLc.1471C>A (p.Pro491Thr)
n.1668C>A
c.1684C>A (p.Pro562Thr)
c.1273C>A (p.Pro425Thr)
c.505C>A (p.Pro169Thr)
c.181+33189G>T (n.181+33189G>T)
c.1709C>A (p.Ala570Asp)
c.1640C>A (p.Ala547Asp)
c.1631C>A (p.Ala544Asp)
c.1618C>A (p.Pro540Thr)
c.1549C>A (p.Pro517Thr)
c.1448C>A (p.Ala483Asp)
c.1420C>A (p.Pro474Thr)
c.214+33189G>T (n.214+33189G>T)
8g.142874415C>ACA372390755CYP11B1,GMLc.1470G>T (p.Arg490Ser)
n.1667G>T
c.1683G>T (p.Arg561Ser)
c.1272G>T (p.Arg424Ser)
c.504G>T (p.Arg168Ser)
c.181+33190C>A (n.181+33190C>A)
c.1708G>T (p.Ala570Ser)
c.1639G>T (p.Ala547Ser)
c.1630G>T (p.Ala544Ser)
c.1617G>T (p.Arg539Ser)
c.1548G>T (p.Arg516Ser)
c.1447G>T (p.Ala483Ser)
c.1419G>T (p.Arg473Ser)
c.214+33190C>A (n.214+33190C>A)
8g.142874415C>GCA372390757CYP11B1,GMLc.1470G>C (p.Arg490Ser)
n.1667G>C
c.1683G>C (p.Arg561Ser)
c.1272G>C (p.Arg424Ser)
c.504G>C (p.Arg168Ser)
c.181+33190C>G (n.181+33190C>G)
c.1708G>C (p.Ala570Pro)
c.1639G>C (p.Ala547Pro)
c.1630G>C (p.Ala544Pro)
c.1617G>C (p.Arg539Ser)
c.1548G>C (p.Arg516Ser)
c.1447G>C (p.Ala483Pro)
c.1419G>C (p.Arg473Ser)
c.214+33190C>G (n.214+33190C>G)
8g.142874415C>TCA463324998CYP11B1,GMLc.1470G>A (p.Arg490=)
n.1667G>A
c.1683G>A (p.Arg561=)
c.1272G>A (p.Arg424=)
c.504G>A (p.Arg168=)
c.181+33190C>T (n.181+33190C>T)
c.1708G>A (p.Ala570Thr)
c.1639G>A (p.Ala547Thr)
c.1630G>A (p.Ala544Thr)
c.1617G>A (p.Arg539=)
c.1548G>A (p.Arg516=)
c.1447G>A (p.Ala483Thr)
c.1419G>A (p.Arg473=)
c.214+33190C>T (n.214+33190C>T)
8g.142874416C>ACA372390762CYP11B1,GMLc.1469G>T (p.Arg490Met)
n.1666G>T
c.1682G>T (p.Arg561Met)
c.1271G>T (p.Arg424Met)
c.503G>T (p.Arg168Met)
c.181+33191C>A (n.181+33191C>A)
c.1707G>T (p.Glu569Asp)
c.1638G>T (p.Glu546Asp)
c.1629G>T (p.Glu543Asp)
c.1616G>T (p.Arg539Met)
c.1547G>T (p.Arg516Met)
c.1446G>T (p.Glu482Asp)
c.1418G>T (p.Arg473Met)
c.214+33191C>A (n.214+33191C>A)
8g.142874416C>GCA372390765CYP11B1,GMLc.1469G>C (p.Arg490Thr)
n.1666G>C
c.1682G>C (p.Arg561Thr)
c.1271G>C (p.Arg424Thr)
c.503G>C (p.Arg168Thr)
c.181+33191C>G (n.181+33191C>G)
c.1707G>C (p.Glu569Asp)
c.1638G>C (p.Glu546Asp)
c.1629G>C (p.Glu543Asp)
c.1616G>C (p.Arg539Thr)
c.1547G>C (p.Arg516Thr)
c.1446G>C (p.Glu482Asp)
c.1418G>C (p.Arg473Thr)
c.214+33191C>G (n.214+33191C>G)
8g.142874416C>TCA372390766CYP11B1,GMLc.1469G>A (p.Arg490Lys)
n.1666G>A
c.1682G>A (p.Arg561Lys)
c.1271G>A (p.Arg424Lys)
c.503G>A (p.Arg168Lys)
c.181+33191C>T (n.181+33191C>T)
c.1707G>A (p.Glu569=)
c.1638G>A (p.Glu546=)
c.1629G>A (p.Glu543=)
c.1616G>A (p.Arg539Lys)
c.1547G>A (p.Arg516Lys)
c.1446G>A (p.Glu482=)
c.1418G>A (p.Arg473Lys)
c.214+33191C>T (n.214+33191C>T)
8g.142874417T>ACA372390770CYP11B1,GMLc.1468A>T (p.Arg490Trp)
n.1665A>T
c.1681A>T (p.Arg561Trp)
c.1270A>T (p.Arg424Trp)
c.502A>T (p.Arg168Trp)
c.181+33192T>A (n.181+33192T>A)
c.1706A>T (p.Glu569Val)
c.1637A>T (p.Glu546Val)
c.1628A>T (p.Glu543Val)
c.1615A>T (p.Arg539Trp)
c.1546A>T (p.Arg516Trp)
c.1445A>T (p.Glu482Val)
c.1417A>T (p.Arg473Trp)
c.214+33192T>A (n.214+33192T>A)
8g.142874417T>CCA372390771CYP11B1,GMLc.1468A>G (p.Arg490Gly)
n.1665A>G
c.1681A>G (p.Arg561Gly)
c.1270A>G (p.Arg424Gly)
c.502A>G (p.Arg168Gly)
c.181+33192T>C (n.181+33192T>C)
c.1706A>G (p.Glu569Gly)
c.1637A>G (p.Glu546Gly)
c.1628A>G (p.Glu543Gly)
c.1615A>G (p.Arg539Gly)
c.1546A>G (p.Arg516Gly)
c.1445A>G (p.Glu482Gly)
c.1417A>G (p.Arg473Gly)
c.214+33192T>C (n.214+33192T>C)
8g.142874417T>GCA463325006CYP11B1,GMLc.1468A>C (p.Arg490=)
n.1665A>C
c.1681A>C (p.Arg561=)
c.1270A>C (p.Arg424=)
c.502A>C (p.Arg168=)
c.181+33192T>G (n.181+33192T>G)
c.1706A>C (p.Glu569Ala)
c.1637A>C (p.Glu546Ala)
c.1628A>C (p.Glu543Ala)
c.1615A>C (p.Arg539=)
c.1546A>C (p.Arg516=)
c.1445A>C (p.Glu482Ala)
c.1417A>C (p.Arg473=)
c.214+33192T>G (n.214+33192T>G)
8g.142874418C>ACA372390777CYP11B1,GMLc.1467G>T (p.Leu489Phe)
n.1664G>T
c.1680G>T (p.Leu560Phe)
c.1269G>T (p.Leu423Phe)
c.501G>T (p.Leu167Phe)
c.181+33193C>A (n.181+33193C>A)
c.1705G>T (p.Glu569Ter)
c.1636G>T (p.Glu546Ter)
c.1627G>T (p.Glu543Ter)
c.1614G>T (p.Leu538Phe)
c.1545G>T (p.Leu515Phe)
c.1444G>T (p.Glu482Ter)
c.1416G>T (p.Leu472Phe)
c.214+33193C>A (n.214+33193C>A)
8g.142874418C=CA1825495782CYP11B1,GMLc.1467G= (p.Leu489=)
n.1664G=
c.1680G= (p.Leu560=)
c.1269G= (p.Leu423=)
c.501G= (p.Leu167=)
c.181+33193C= (n.181+33193C=)
c.1705G= (p.Glu569=)
c.1636G= (p.Glu546=)
c.1627G= (p.Glu543=)
c.1614G= (p.Leu538=)
c.1545G= (p.Leu515=)
c.1444G= (p.Glu482=)
c.1416G= (p.Leu472=)
c.214+33193C= (n.214+33193C=)
8g.142874418C>GCA372390775CYP11B1,GMLc.1467G>C (p.Leu489Phe)
n.1664G>C
c.1680G>C (p.Leu560Phe)
c.1269G>C (p.Leu423Phe)
c.501G>C (p.Leu167Phe)
c.181+33193C>G (n.181+33193C>G)
c.1705G>C (p.Glu569Gln)
c.1636G>C (p.Glu546Gln)
c.1627G>C (p.Glu543Gln)
c.1614G>C (p.Leu538Phe)
c.1545G>C (p.Leu515Phe)
c.1444G>C (p.Glu482Gln)
c.1416G>C (p.Leu472Phe)
c.214+33193C>G (n.214+33193C>G)
8g.142874418C>TCA4904944CYP11B1,GMLc.1467G>A (p.Leu489=)
n.1664G>A
c.1680G>A (p.Leu560=)
c.1269G>A (p.Leu423=)
c.501G>A (p.Leu167=)
c.181+33193C>T (n.181+33193C>T)
c.1705G>A (p.Glu569Lys)
c.1636G>A (p.Glu546Lys)
c.1627G>A (p.Glu543Lys)
c.1614G>A (p.Leu538=)
c.1545G>A (p.Leu515=)
c.1444G>A (p.Glu482Lys)
c.1416G>A (p.Leu472=)
c.214+33193C>T (n.214+33193C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874419A=CA1825495783CYP11B1,GMLc.1466T= (p.Leu489=)
n.1663T=
c.1679T= (p.Leu560=)
c.1268T= (p.Leu423=)
c.500T= (p.Leu167=)
c.181+33194A= (n.181+33194A=)
c.1704T= (p.Ile568=)
c.1635T= (p.Ile545=)
c.1626T= (p.Ile542=)
c.1613T= (p.Leu538=)
c.1544T= (p.Leu515=)
c.1443T= (p.Ile481=)
c.1415T= (p.Leu472=)
c.214+33194A= (n.214+33194A=)
8g.142874419A>CCA372390781CYP11B1,GMLc.1466T>G (p.Leu489Trp)
n.1663T>G
c.1679T>G (p.Leu560Trp)
c.1268T>G (p.Leu423Trp)
c.500T>G (p.Leu167Trp)
c.181+33194A>C (n.181+33194A>C)
c.1704T>G (p.Ile568Met)
c.1635T>G (p.Ile545Met)
c.1626T>G (p.Ile542Met)
c.1613T>G (p.Leu538Trp)
c.1544T>G (p.Leu515Trp)
c.1443T>G (p.Ile481Met)
c.1415T>G (p.Leu472Trp)
c.214+33194A>C (n.214+33194A>C)
8g.142874419A>GCA4904945CYP11B1,GMLc.1466T>C (p.Leu489Ser)
n.1663T>C
c.1679T>C (p.Leu560Ser)
c.1268T>C (p.Leu423Ser)
c.500T>C (p.Leu167Ser)
c.181+33194A>G (n.181+33194A>G)
c.1704T>C (p.Ile568=)
c.1635T>C (p.Ile545=)
c.1626T>C (p.Ile542=)
c.1613T>C (p.Leu538Ser)
c.1544T>C (p.Leu515Ser)
c.1443T>C (p.Ile481=)
c.1415T>C (p.Leu472Ser)
c.214+33194A>G (n.214+33194A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.142874419A>TCA372390785CYP11B1,GMLc.1466T>A (p.Leu489Ter)
n.1663T>A
c.1679T>A (p.Leu560Ter)
c.1268T>A (p.Leu423Ter)
c.500T>A (p.Leu167Ter)
c.181+33194A>T (n.181+33194A>T)
c.1704T>A (p.Ile568=)
c.1635T>A (p.Ile545=)
c.1626T>A (p.Ile542=)
c.1613T>A (p.Leu538Ter)
c.1544T>A (p.Leu515Ter)
c.1443T>A (p.Ile481=)
c.1415T>A (p.Leu472Ter)
c.214+33194A>T (n.214+33194A>T)
8g.142874420A=CA1825495784CYP11B1,GMLc.1465T= (p.Leu489=)
n.1662T=
c.1678T= (p.Leu560=)
c.1267T= (p.Leu423=)
c.499T= (p.Leu167=)
c.181+33195A= (n.181+33195A=)
c.1703T= (p.Ile568=)
c.1634T= (p.Ile545=)
c.1625T= (p.Ile542=)
c.1612T= (p.Leu538=)
c.1543T= (p.Leu515=)
c.1442T= (p.Ile481=)
c.1414T= (p.Leu472=)
c.214+33195A= (n.214+33195A=)
8g.142874420A>CCA372390788CYP11B1,GMLc.1465T>G (p.Leu489Val)
n.1662T>G
c.1678T>G (p.Leu560Val)
c.1267T>G (p.Leu423Val)
c.499T>G (p.Leu167Val)
c.181+33195A>C (n.181+33195A>C)
c.1703T>G (p.Ile568Ser)
c.1634T>G (p.Ile545Ser)
c.1625T>G (p.Ile542Ser)
c.1612T>G (p.Leu538Val)
c.1543T>G (p.Leu515Val)
c.1442T>G (p.Ile481Ser)
c.1414T>G (p.Leu472Val)
c.214+33195A>C (n.214+33195A>C)
 dbSNP
8g.142874420A>GCA4904946CYP11B1,GMLc.1465T>C (p.Leu489=)
n.1662T>C
c.1678T>C (p.Leu560=)
c.1267T>C (p.Leu423=)
c.499T>C (p.Leu167=)
c.181+33195A>G (n.181+33195A>G)
c.1703T>C (p.Ile568Thr)
c.1634T>C (p.Ile545Thr)
c.1625T>C (p.Ile542Thr)
c.1612T>C (p.Leu538=)
c.1543T>C (p.Leu515=)
c.1442T>C (p.Ile481Thr)
c.1414T>C (p.Leu472=)
c.214+33195A>G (n.214+33195A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874420A>TCA372390791CYP11B1,GMLc.1465T>A (p.Leu489Met)
n.1662T>A
c.1678T>A (p.Leu560Met)
c.1267T>A (p.Leu423Met)
c.499T>A (p.Leu167Met)
c.181+33195A>T (n.181+33195A>T)
c.1703T>A (p.Ile568Asn)
c.1634T>A (p.Ile545Asn)
c.1625T>A (p.Ile542Asn)
c.1612T>A (p.Leu538Met)
c.1543T>A (p.Leu515Met)
c.1442T>A (p.Ile481Asn)
c.1414T>A (p.Leu472Met)
c.214+33195A>T (n.214+33195A>T)
8g.142874421T>ACA463325021CYP11B1,GMLc.1464A>T (p.Ile488=)
n.1661A>T
c.1677A>T (p.Ile559=)
c.1266A>T (p.Ile422=)
c.498A>T (p.Ile166=)
c.181+33196T>A (n.181+33196T>A)
c.1702A>T (p.Ile568Phe)
c.1633A>T (p.Ile545Phe)
c.1624A>T (p.Ile542Phe)
c.1611A>T (p.Ile537=)
c.1542A>T (p.Ile514=)
c.1441A>T (p.Ile481Phe)
c.1413A>T (p.Ile471=)
c.214+33196T>A (n.214+33196T>A)
8g.142874421T>CCA372390792CYP11B1,GMLc.1464A>G (p.Ile488Met)
n.1661A>G
c.1677A>G (p.Ile559Met)
c.1266A>G (p.Ile422Met)
c.498A>G (p.Ile166Met)
c.181+33196T>C (n.181+33196T>C)
c.1702A>G (p.Ile568Val)
c.1633A>G (p.Ile545Val)
c.1624A>G (p.Ile542Val)
c.1611A>G (p.Ile537Met)
c.1542A>G (p.Ile514Met)
c.1441A>G (p.Ile481Val)
c.1413A>G (p.Ile471Met)
c.214+33196T>C (n.214+33196T>C)
8g.142874421T>GCA463325023CYP11B1,GMLc.1464A>C (p.Ile488=)
n.1661A>C
c.1677A>C (p.Ile559=)
c.1266A>C (p.Ile422=)
c.498A>C (p.Ile166=)
c.181+33196T>G (n.181+33196T>G)
c.1702A>C (p.Ile568Leu)
c.1633A>C (p.Ile545Leu)
c.1624A>C (p.Ile542Leu)
c.1611A>C (p.Ile537=)
c.1542A>C (p.Ile514=)
c.1441A>C (p.Ile481Leu)
c.1413A>C (p.Ile471=)
c.214+33196T>G (n.214+33196T>G)
8g.142874422A>CCA372390795CYP11B1,GMLc.1463T>G (p.Ile488Arg)
n.1660T>G
c.1676T>G (p.Ile559Arg)
c.1265T>G (p.Ile422Arg)
c.497T>G (p.Ile166Arg)
c.181+33197A>C (n.181+33197A>C)
c.1701T>G (p.His567Gln)
c.1632T>G (p.His544Gln)
c.1623T>G (p.His541Gln)
c.1610T>G (p.Ile537Arg)
c.1541T>G (p.Ile514Arg)
c.1440T>G (p.His480Gln)
c.1412T>G (p.Ile471Arg)
c.214+33197A>C (n.214+33197A>C)
8g.142874422A>GCA372390798CYP11B1,GMLc.1463T>C (p.Ile488Thr)
n.1660T>C
c.1676T>C (p.Ile559Thr)
c.1265T>C (p.Ile422Thr)
c.497T>C (p.Ile166Thr)
c.181+33197A>G (n.181+33197A>G)
c.1701T>C (p.His567=)
c.1632T>C (p.His544=)
c.1623T>C (p.His541=)
c.1610T>C (p.Ile537Thr)
c.1541T>C (p.Ile514Thr)
c.1440T>C (p.His480=)
c.1412T>C (p.Ile471Thr)
c.214+33197A>G (n.214+33197A>G)
8g.142874422A>TCA372390805CYP11B1,GMLc.1463T>A (p.Ile488Lys)
n.1660T>A
c.1676T>A (p.Ile559Lys)
c.1265T>A (p.Ile422Lys)
c.497T>A (p.Ile166Lys)
c.181+33197A>T (n.181+33197A>T)
c.1701T>A (p.His567Gln)
c.1632T>A (p.His544Gln)
c.1623T>A (p.His541Gln)
c.1610T>A (p.Ile537Lys)
c.1541T>A (p.Ile514Lys)
c.1440T>A (p.His480Gln)
c.1412T>A (p.Ile471Lys)
c.214+33197A>T (n.214+33197A>T)
8g.142874423T>ACA372390808CYP11B1,GMLc.1462A>T (p.Ile488Leu)
n.1659A>T
c.1675A>T (p.Ile559Leu)
c.1264A>T (p.Ile422Leu)
c.496A>T (p.Ile166Leu)
c.181+33198T>A (n.181+33198T>A)
c.1700A>T (p.His567Leu)
c.1631A>T (p.His544Leu)
c.1622A>T (p.His541Leu)
c.1609A>T (p.Ile537Leu)
c.1540A>T (p.Ile514Leu)
c.1439A>T (p.His480Leu)
c.1411A>T (p.Ile471Leu)
c.214+33198T>A (n.214+33198T>A)
8g.142874423T>CCA372390809CYP11B1,GMLc.1462A>G (p.Ile488Val)
n.1659A>G
c.1675A>G (p.Ile559Val)
c.1264A>G (p.Ile422Val)
c.496A>G (p.Ile166Val)
c.181+33198T>C (n.181+33198T>C)
c.1700A>G (p.His567Arg)
c.1631A>G (p.His544Arg)
c.1622A>G (p.His541Arg)
c.1609A>G (p.Ile537Val)
c.1540A>G (p.Ile514Val)
c.1439A>G (p.His480Arg)
c.1411A>G (p.Ile471Val)
c.214+33198T>C (n.214+33198T>C)
 gnomAD v4
8g.142874423T>GCA372390810CYP11B1,GMLc.1462A>C (p.Ile488Leu)
n.1659A>C
c.1675A>C (p.Ile559Leu)
c.1264A>C (p.Ile422Leu)
c.496A>C (p.Ile166Leu)
c.181+33198T>G (n.181+33198T>G)
c.1700A>C (p.His567Pro)
c.1631A>C (p.His544Pro)
c.1622A>C (p.His541Pro)
c.1609A>C (p.Ile537Leu)
c.1540A>C (p.Ile514Leu)
c.1439A>C (p.His480Pro)
c.1411A>C (p.Ile471Leu)
c.214+33198T>G (n.214+33198T>G)
8g.142874424G>ACA463325033CYP11B1,GMLc.1461C>T (p.Phe487=)
n.1658C>T
c.1674C>T (p.Phe558=)
c.1263C>T (p.Phe421=)
c.495C>T (p.Phe165=)
c.181+33199G>A (n.181+33199G>A)
c.1699C>T (p.His567Tyr)
c.1630C>T (p.His544Tyr)
c.1621C>T (p.His541Tyr)
c.1608C>T (p.Phe536=)
c.1539C>T (p.Phe513=)
c.1438C>T (p.His480Tyr)
c.1410C>T (p.Phe470=)
c.214+33199G>A (n.214+33199G>A)
 gnomAD v4 COSMIC
8g.142874424G>CCA372390812CYP11B1,GMLc.1461C>G (p.Phe487Leu)
n.1658C>G
c.1674C>G (p.Phe558Leu)
c.1263C>G (p.Phe421Leu)
c.495C>G (p.Phe165Leu)
c.181+33199G>C (n.181+33199G>C)
c.1699C>G (p.His567Asp)
c.1630C>G (p.His544Asp)
c.1621C>G (p.His541Asp)
c.1608C>G (p.Phe536Leu)
c.1539C>G (p.Phe513Leu)
c.1438C>G (p.His480Asp)
c.1410C>G (p.Phe470Leu)
c.214+33199G>C (n.214+33199G>C)
 gnomAD v4
8g.142874424G>TCA372390811CYP11B1,GMLc.1461C>A (p.Phe487Leu)
n.1658C>A
c.1674C>A (p.Phe558Leu)
c.1263C>A (p.Phe421Leu)
c.495C>A (p.Phe165Leu)
c.181+33199G>T (n.181+33199G>T)
c.1699C>A (p.His567Asn)
c.1630C>A (p.His544Asn)
c.1621C>A (p.His541Asn)
c.1608C>A (p.Phe536Leu)
c.1539C>A (p.Phe513Leu)
c.1438C>A (p.His480Asn)
c.1410C>A (p.Phe470Leu)
c.214+33199G>T (n.214+33199G>T)
8g.142874425A=CA1825495785CYP11B1,GMLc.1460T= (p.Phe487=)
n.1657T=
c.1673T= (p.Phe558=)
c.1262T= (p.Phe421=)
c.494T= (p.Phe165=)
c.181+33200A= (n.181+33200A=)
c.1698T= (p.Leu566=)
c.1629T= (p.Leu543=)
c.1620T= (p.Leu540=)
c.1607T= (p.Phe536=)
c.1538T= (p.Phe513=)
c.1437T= (p.Leu479=)
c.1409T= (p.Phe470=)
c.214+33200A= (n.214+33200A=)
8g.142874425A>CCA372390815CYP11B1,GMLc.1460T>G (p.Phe487Cys)
n.1657T>G
c.1673T>G (p.Phe558Cys)
c.1262T>G (p.Phe421Cys)
c.494T>G (p.Phe165Cys)
c.181+33200A>C (n.181+33200A>C)
c.1698T>G (p.Leu566=)
c.1629T>G (p.Leu543=)
c.1620T>G (p.Leu540=)
c.1607T>G (p.Phe536Cys)
c.1538T>G (p.Phe513Cys)
c.1437T>G (p.Leu479=)
c.1409T>G (p.Phe470Cys)
c.214+33200A>C (n.214+33200A>C)
8g.142874425A>GCA372390818CYP11B1,GMLc.1460T>C (p.Phe487Ser)
n.1657T>C
c.1673T>C (p.Phe558Ser)
c.1262T>C (p.Phe421Ser)
c.494T>C (p.Phe165Ser)
c.181+33200A>G (n.181+33200A>G)
c.1698T>C (p.Leu566=)
c.1629T>C (p.Leu543=)
c.1620T>C (p.Leu540=)
c.1607T>C (p.Phe536Ser)
c.1538T>C (p.Phe513Ser)
c.1437T>C (p.Leu479=)
c.1409T>C (p.Phe470Ser)
c.214+33200A>G (n.214+33200A>G)
 ClinVar dbSNP
8g.142874425A>TCA372390820CYP11B1,GMLc.1460T>A (p.Phe487Tyr)
n.1657T>A
c.1673T>A (p.Phe558Tyr)
c.1262T>A (p.Phe421Tyr)
c.494T>A (p.Phe165Tyr)
c.181+33200A>T (n.181+33200A>T)
c.1698T>A (p.Leu566=)
c.1629T>A (p.Leu543=)
c.1620T>A (p.Leu540=)
c.1607T>A (p.Phe536Tyr)
c.1538T>A (p.Phe513Tyr)
c.1437T>A (p.Leu479=)
c.1409T>A (p.Phe470Tyr)
c.214+33200A>T (n.214+33200A>T)
8g.142874426A>CCA372390822CYP11B1,GMLc.1459T>G (p.Phe487Val)
n.1656T>G
c.1672T>G (p.Phe558Val)
c.1261T>G (p.Phe421Val)
c.493T>G (p.Phe165Val)
c.181+33201A>C (n.181+33201A>C)
c.1697T>G (p.Leu566Arg)
c.1628T>G (p.Leu543Arg)
c.1619T>G (p.Leu540Arg)
c.1606T>G (p.Phe536Val)
c.1537T>G (p.Phe513Val)
c.1436T>G (p.Leu479Arg)
c.1408T>G (p.Phe470Val)
c.214+33201A>C (n.214+33201A>C)
8g.142874426A>GCA372390824CYP11B1,GMLc.1459T>C (p.Phe487Leu)
n.1656T>C
c.1672T>C (p.Phe558Leu)
c.1261T>C (p.Phe421Leu)
c.493T>C (p.Phe165Leu)
c.181+33201A>G (n.181+33201A>G)
c.1697T>C (p.Leu566Pro)
c.1628T>C (p.Leu543Pro)
c.1619T>C (p.Leu540Pro)
c.1606T>C (p.Phe536Leu)
c.1537T>C (p.Phe513Leu)
c.1436T>C (p.Leu479Pro)
c.1408T>C (p.Phe470Leu)
c.214+33201A>G (n.214+33201A>G)
 gnomAD v4
8g.142874426A>TCA372390826CYP11B1,GMLc.1459T>A (p.Phe487Ile)
n.1656T>A
c.1672T>A (p.Phe558Ile)
c.1261T>A (p.Phe421Ile)
c.493T>A (p.Phe165Ile)
c.181+33201A>T (n.181+33201A>T)
c.1697T>A (p.Leu566His)
c.1628T>A (p.Leu543His)
c.1619T>A (p.Leu540His)
c.1606T>A (p.Phe536Ile)
c.1537T>A (p.Phe513Ile)
c.1436T>A (p.Leu479His)
c.1408T>A (p.Phe470Ile)
c.214+33201A>T (n.214+33201A>T)
8g.142874427G>ACA463325045CYP11B1,GMLc.1458C>T (p.Ser486=)
n.1655C>T
c.1671C>T (p.Ser557=)
c.1260C>T (p.Ser420=)
c.492C>T (p.Ser164=)
c.181+33202G>A (n.181+33202G>A)
c.1696C>T (p.Leu566Phe)
c.1627C>T (p.Leu543Phe)
c.1618C>T (p.Leu540Phe)
c.1605C>T (p.Ser535=)
c.1536C>T (p.Ser512=)
c.1435C>T (p.Leu479Phe)
c.1407C>T (p.Ser469=)
c.214+33202G>A (n.214+33202G>A)
8g.142874427G>CCA372390830CYP11B1,GMLc.1458C>G (p.Ser486Arg)
n.1655C>G
c.1671C>G (p.Ser557Arg)
c.1260C>G (p.Ser420Arg)
c.492C>G (p.Ser164Arg)
c.181+33202G>C (n.181+33202G>C)
c.1696C>G (p.Leu566Val)
c.1627C>G (p.Leu543Val)
c.1618C>G (p.Leu540Val)
c.1605C>G (p.Ser535Arg)
c.1536C>G (p.Ser512Arg)
c.1435C>G (p.Leu479Val)
c.1407C>G (p.Ser469Arg)
c.214+33202G>C (n.214+33202G>C)
8g.142874427G>TCA372390833CYP11B1,GMLc.1458C>A (p.Ser486Arg)
n.1655C>A
c.1671C>A (p.Ser557Arg)
c.1260C>A (p.Ser420Arg)
c.492C>A (p.Ser164Arg)
c.181+33202G>T (n.181+33202G>T)
c.1696C>A (p.Leu566Ile)
c.1627C>A (p.Leu543Ile)
c.1618C>A (p.Leu540Ile)
c.1605C>A (p.Ser535Arg)
c.1536C>A (p.Ser512Arg)
c.1435C>A (p.Leu479Ile)
c.1407C>A (p.Ser469Arg)
c.214+33202G>T (n.214+33202G>T)
8g.142874428C>ACA372390835CYP11B1,GMLc.1457G>T (p.Ser486Ile)
n.1654G>T
c.1670G>T (p.Ser557Ile)
c.1259G>T (p.Ser420Ile)
c.491G>T (p.Ser164Ile)
c.181+33203C>A (n.181+33203C>A)
c.1695G>T (p.Gln565His)
c.1626G>T (p.Gln542His)
c.1617G>T (p.Gln539His)
c.1604G>T (p.Ser535Ile)
c.1535G>T (p.Ser512Ile)
c.1434G>T (p.Gln478His)
c.1406G>T (p.Ser469Ile)
c.214+33203C>A (n.214+33203C>A)
8g.142874428C>GCA372390837CYP11B1,GMLc.1457G>C (p.Ser486Thr)
n.1654G>C
c.1670G>C (p.Ser557Thr)
c.1259G>C (p.Ser420Thr)
c.491G>C (p.Ser164Thr)
c.181+33203C>G (n.181+33203C>G)
c.1695G>C (p.Gln565His)
c.1626G>C (p.Gln542His)
c.1617G>C (p.Gln539His)
c.1604G>C (p.Ser535Thr)
c.1535G>C (p.Ser512Thr)
c.1434G>C (p.Gln478His)
c.1406G>C (p.Ser469Thr)
c.214+33203C>G (n.214+33203C>G)
8g.142874428C>TCA372390839CYP11B1,GMLc.1457G>A (p.Ser486Asn)
n.1654G>A
c.1670G>A (p.Ser557Asn)
c.1259G>A (p.Ser420Asn)
c.491G>A (p.Ser164Asn)
c.181+33203C>T (n.181+33203C>T)
c.1695G>A (p.Gln565=)
c.1626G>A (p.Gln542=)
c.1617G>A (p.Gln539=)
c.1604G>A (p.Ser535Asn)
c.1535G>A (p.Ser512Asn)
c.1434G>A (p.Gln478=)
c.1406G>A (p.Ser469Asn)
c.214+33203C>T (n.214+33203C>T)
8g.142874429T>ACA372390840CYP11B1,GMLc.1456A>T (p.Ser486Cys)
n.1653A>T
c.1669A>T (p.Ser557Cys)
c.1258A>T (p.Ser420Cys)
c.490A>T (p.Ser164Cys)
c.181+33204T>A (n.181+33204T>A)
c.1694A>T (p.Gln565Leu)
c.1625A>T (p.Gln542Leu)
c.1616A>T (p.Gln539Leu)
c.1603A>T (p.Ser535Cys)
c.1534A>T (p.Ser512Cys)
c.1433A>T (p.Gln478Leu)
c.1405A>T (p.Ser469Cys)
c.214+33204T>A (n.214+33204T>A)
8g.142874429T>CCA372390841CYP11B1,GMLc.1456A>G (p.Ser486Gly)
n.1653A>G
c.1669A>G (p.Ser557Gly)
c.1258A>G (p.Ser420Gly)
c.490A>G (p.Ser164Gly)
c.181+33204T>C (n.181+33204T>C)
c.1694A>G (p.Gln565Arg)
c.1625A>G (p.Gln542Arg)
c.1616A>G (p.Gln539Arg)
c.1603A>G (p.Ser535Gly)
c.1534A>G (p.Ser512Gly)
c.1433A>G (p.Gln478Arg)
c.1405A>G (p.Ser469Gly)
c.214+33204T>C (n.214+33204T>C)
 dbSNP
8g.142874429T>GCA372390843CYP11B1,GMLc.1456A>C (p.Ser486Arg)
n.1653A>C
c.1669A>C (p.Ser557Arg)
c.1258A>C (p.Ser420Arg)
c.490A>C (p.Ser164Arg)
c.181+33204T>G (n.181+33204T>G)
c.1694A>C (p.Gln565Pro)
c.1625A>C (p.Gln542Pro)
c.1616A>C (p.Gln539Pro)
c.1603A>C (p.Ser535Arg)
c.1534A>C (p.Ser512Arg)
c.1433A>C (p.Gln478Pro)
c.1405A>C (p.Ser469Arg)
c.214+33204T>G (n.214+33204T>G)
8g.142874429T=CA1825495786CYP11B1,GMLc.1456A= (p.Ser486=)
n.1653A=
c.1669A= (p.Ser557=)
c.1258A= (p.Ser420=)
c.490A= (p.Ser164=)
c.181+33204T= (n.181+33204T=)
c.1694A= (p.Gln565=)
c.1625A= (p.Gln542=)
c.1616A= (p.Gln539=)
c.1603A= (p.Ser535=)
c.1534A= (p.Ser512=)
c.1433A= (p.Gln478=)
c.1405A= (p.Ser469=)
c.214+33204T= (n.214+33204T=)
8g.142874430G>ACA463325057CYP11B1,GMLc.1455C>T (p.Tyr485=)
n.1652C>T
c.1668C>T (p.Tyr556=)
c.1257C>T (p.Tyr419=)
c.489C>T (p.Tyr163=)
c.181+33205G>A (n.181+33205G>A)
c.1693C>T (p.Gln565Ter)
c.1624C>T (p.Gln542Ter)
c.1615C>T (p.Gln539Ter)
c.1602C>T (p.Tyr534=)
c.1533C>T (p.Tyr511=)
c.1432C>T (p.Gln478Ter)
c.1404C>T (p.Tyr468=)
c.214+33205G>A (n.214+33205G>A)
8g.142874430G>CCA4904947CYP11B1,GMLc.1455C>G (p.Tyr485Ter)
n.1652C>G
c.1668C>G (p.Tyr556Ter)
c.1257C>G (p.Tyr419Ter)
c.489C>G (p.Tyr163Ter)
c.181+33205G>C (n.181+33205G>C)
c.1693C>G (p.Gln565Glu)
c.1624C>G (p.Gln542Glu)
c.1615C>G (p.Gln539Glu)
c.1602C>G (p.Tyr534Ter)
c.1533C>G (p.Tyr511Ter)
c.1432C>G (p.Gln478Glu)
c.1404C>G (p.Tyr468Ter)
c.214+33205G>C (n.214+33205G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874430G=CA1825495787CYP11B1,GMLc.1455C= (p.Tyr485=)
n.1652C=
c.1668C= (p.Tyr556=)
c.1257C= (p.Tyr419=)
c.489C= (p.Tyr163=)
c.181+33205G= (n.181+33205G=)
c.1693C= (p.Gln565=)
c.1624C= (p.Gln542=)
c.1615C= (p.Gln539=)
c.1602C= (p.Tyr534=)
c.1533C= (p.Tyr511=)
c.1432C= (p.Gln478=)
c.1404C= (p.Tyr468=)
c.214+33205G= (n.214+33205G=)
8g.142874430G>TCA372390845CYP11B1,GMLc.1455C>A (p.Tyr485Ter)
n.1652C>A
c.1668C>A (p.Tyr556Ter)
c.1257C>A (p.Tyr419Ter)
c.489C>A (p.Tyr163Ter)
c.181+33205G>T (n.181+33205G>T)
c.1693C>A (p.Gln565Lys)
c.1624C>A (p.Gln542Lys)
c.1615C>A (p.Gln539Lys)
c.1602C>A (p.Tyr534Ter)
c.1533C>A (p.Tyr511Ter)
c.1432C>A (p.Gln478Lys)
c.1404C>A (p.Tyr468Ter)
c.214+33205G>T (n.214+33205G>T)
8g.142874431T>ACA372390848CYP11B1,GMLc.1454A>T (p.Tyr485Phe)
n.1651A>T
c.1667A>T (p.Tyr556Phe)
c.1256A>T (p.Tyr419Phe)
c.488A>T (p.Tyr163Phe)
c.181+33206T>A (n.181+33206T>A)
c.1692A>T (p.Leu564=)
c.1623A>T (p.Leu541=)
c.1614A>T (p.Leu538=)
c.1601A>T (p.Tyr534Phe)
c.1532A>T (p.Tyr511Phe)
c.1431A>T (p.Leu477=)
c.1403A>T (p.Tyr468Phe)
c.214+33206T>A (n.214+33206T>A)
8g.142874431T>CCA372390850CYP11B1,GMLc.1454A>G (p.Tyr485Cys)
n.1651A>G
c.1667A>G (p.Tyr556Cys)
c.1256A>G (p.Tyr419Cys)
c.488A>G (p.Tyr163Cys)
c.181+33206T>C (n.181+33206T>C)
c.1692A>G (p.Leu564=)
c.1623A>G (p.Leu541=)
c.1614A>G (p.Leu538=)
c.1601A>G (p.Tyr534Cys)
c.1532A>G (p.Tyr511Cys)
c.1431A>G (p.Leu477=)
c.1403A>G (p.Tyr468Cys)
c.214+33206T>C (n.214+33206T>C)
 gnomAD v4
8g.142874431T>GCA372390852CYP11B1,GMLc.1454A>C (p.Tyr485Ser)
n.1651A>C
c.1667A>C (p.Tyr556Ser)
c.1256A>C (p.Tyr419Ser)
c.488A>C (p.Tyr163Ser)
c.181+33206T>G (n.181+33206T>G)
c.1692A>C (p.Leu564=)
c.1623A>C (p.Leu541=)
c.1614A>C (p.Leu538=)
c.1601A>C (p.Tyr534Ser)
c.1532A>C (p.Tyr511Ser)
c.1431A>C (p.Leu477=)
c.1403A>C (p.Tyr468Ser)
c.214+33206T>G (n.214+33206T>G)
8g.142874432A>CCA372390855CYP11B1,GMLc.1453T>G (p.Tyr485Asp)
n.1650T>G
c.1666T>G (p.Tyr556Asp)
c.1255T>G (p.Tyr419Asp)
c.487T>G (p.Tyr163Asp)
c.181+33207A>C (n.181+33207A>C)
c.1691T>G (p.Leu564Arg)
c.1622T>G (p.Leu541Arg)
c.1613T>G (p.Leu538Arg)
c.1600T>G (p.Tyr534Asp)
c.1531T>G (p.Tyr511Asp)
c.1430T>G (p.Leu477Arg)
c.1402T>G (p.Tyr468Asp)
c.214+33207A>C (n.214+33207A>C)
8g.142874432A>GCA372390857CYP11B1,GMLc.1453T>C (p.Tyr485His)
n.1650T>C
c.1666T>C (p.Tyr556His)
c.1255T>C (p.Tyr419His)
c.487T>C (p.Tyr163His)
c.181+33207A>G (n.181+33207A>G)
c.1691T>C (p.Leu564Pro)
c.1622T>C (p.Leu541Pro)
c.1613T>C (p.Leu538Pro)
c.1600T>C (p.Tyr534His)
c.1531T>C (p.Tyr511His)
c.1430T>C (p.Leu477Pro)
c.1402T>C (p.Tyr468His)
c.214+33207A>G (n.214+33207A>G)
8g.142874432A>TCA372390859CYP11B1,GMLc.1453T>A (p.Tyr485Asn)
n.1650T>A
c.1666T>A (p.Tyr556Asn)
c.1255T>A (p.Tyr419Asn)
c.487T>A (p.Tyr163Asn)
c.181+33207A>T (n.181+33207A>T)
c.1691T>A (p.Leu564Gln)
c.1622T>A (p.Leu541Gln)
c.1613T>A (p.Leu538Gln)
c.1600T>A (p.Tyr534Asn)
c.1531T>A (p.Tyr511Asn)
c.1430T>A (p.Leu477Gln)
c.1402T>A (p.Tyr468Asn)
c.214+33207A>T (n.214+33207A>T)
8g.142874433G>ACA463325068CYP11B1,GMLc.1452C>T (p.Val484=)
n.1649C>T
c.1665C>T (p.Val555=)
c.1254C>T (p.Val418=)
c.486C>T (p.Val162=)
c.181+33208G>A (n.181+33208G>A)
c.1690C>T (p.Leu564=)
c.1621C>T (p.Leu541=)
c.1612C>T (p.Leu538=)
c.1599C>T (p.Val533=)
c.1530C>T (p.Val510=)
c.1429C>T (p.Leu477=)
c.1401C>T (p.Val467=)
c.214+33208G>A (n.214+33208G>A)
8g.142874433G>CCA463325072CYP11B1,GMLc.1452C>G (p.Val484=)
n.1649C>G
c.1665C>G (p.Val555=)
c.1254C>G (p.Val418=)
c.486C>G (p.Val162=)
c.181+33208G>C (n.181+33208G>C)
c.1690C>G (p.Leu564Val)
c.1621C>G (p.Leu541Val)
c.1612C>G (p.Leu538Val)
c.1599C>G (p.Val533=)
c.1530C>G (p.Val510=)
c.1429C>G (p.Leu477Val)
c.1401C>G (p.Val467=)
c.214+33208G>C (n.214+33208G>C)
 dbSNP gnomAD v3 gnomAD v4
8g.142874433G=CA1825495788CYP11B1,GMLc.1452C= (p.Val484=)
n.1649C=
c.1665C= (p.Val555=)
c.1254C= (p.Val418=)
c.486C= (p.Val162=)
c.181+33208G= (n.181+33208G=)
c.1690C= (p.Leu564=)
c.1621C= (p.Leu541=)
c.1612C= (p.Leu538=)
c.1599C= (p.Val533=)
c.1530C= (p.Val510=)
c.1429C= (p.Leu477=)
c.1401C= (p.Val467=)
c.214+33208G= (n.214+33208G=)
8g.142874433G>TCA463325070CYP11B1,GMLc.1452C>A (p.Val484=)
n.1649C>A
c.1665C>A (p.Val555=)
c.1254C>A (p.Val418=)
c.486C>A (p.Val162=)
c.181+33208G>T (n.181+33208G>T)
c.1690C>A (p.Leu564Ile)
c.1621C>A (p.Leu541Ile)
c.1612C>A (p.Leu538Ile)
c.1599C>A (p.Val533=)
c.1530C>A (p.Val510=)
c.1429C>A (p.Leu477Ile)
c.1401C>A (p.Val467=)
c.214+33208G>T (n.214+33208G>T)
8g.142874434A=CA1825495789CYP11B1,GMLc.1451T= (p.Val484=)
n.1648T=
c.1664T= (p.Val555=)
c.1253T= (p.Val418=)
c.485T= (p.Val162=)
c.181+33209A= (n.181+33209A=)
c.1689T= (p.Gly563=)
c.1620T= (p.Gly540=)
c.1611T= (p.Gly537=)
c.1598T= (p.Val533=)
c.1529T= (p.Val510=)
c.1428T= (p.Gly476=)
c.1400T= (p.Val467=)
c.214+33209A= (n.214+33209A=)
8g.142874434A>CCA372390867CYP11B1,GMLc.1451T>G (p.Val484Gly)
n.1648T>G
c.1664T>G (p.Val555Gly)
c.1253T>G (p.Val418Gly)
c.485T>G (p.Val162Gly)
c.181+33209A>C (n.181+33209A>C)
c.1689T>G (p.Gly563=)
c.1620T>G (p.Gly540=)
c.1611T>G (p.Gly537=)
c.1598T>G (p.Val533Gly)
c.1529T>G (p.Val510Gly)
c.1428T>G (p.Gly476=)
c.1400T>G (p.Val467Gly)
c.214+33209A>C (n.214+33209A>C)
8g.142874434A>GCA372390864CYP11B1,GMLc.1451T>C (p.Val484Ala)
n.1648T>C
c.1664T>C (p.Val555Ala)
c.1253T>C (p.Val418Ala)
c.485T>C (p.Val162Ala)
c.181+33209A>G (n.181+33209A>G)
c.1689T>C (p.Gly563=)
c.1620T>C (p.Gly540=)
c.1611T>C (p.Gly537=)
c.1598T>C (p.Val533Ala)
c.1529T>C (p.Val510Ala)
c.1428T>C (p.Gly476=)
c.1400T>C (p.Val467Ala)
c.214+33209A>G (n.214+33209A>G)
8g.142874434A>TCA4904948CYP11B1,GMLc.1451T>A (p.Val484Asp)
n.1648T>A
c.1664T>A (p.Val555Asp)
c.1253T>A (p.Val418Asp)
c.485T>A (p.Val162Asp)
c.181+33209A>T (n.181+33209A>T)
c.1689T>A (p.Gly563=)
c.1620T>A (p.Gly540=)
c.1611T>A (p.Gly537=)
c.1598T>A (p.Val533Asp)
c.1529T>A (p.Val510Asp)
c.1428T>A (p.Gly476=)
c.1400T>A (p.Val467Asp)
c.214+33209A>T (n.214+33209A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.142874435_142874437delCA2695210353CYP11B1,GMLc.1449_1451del (p.Met483_Val484delinsIle)
n.1646_1648del
c.1662_1664del (p.Met554_Val555delinsIle)
c.1251_1253del (p.Met417_Val418delinsIle)
c.483_485del (p.Met161_Val162delinsIle)
c.181+33210_181+33212del (n.181+33210_181+33212del)
c.1687_1689del (p.Gly563del)
c.1618_1620del (p.Gly540del)
c.1609_1611del (p.Gly537del)
c.1596_1598del (p.Met532_Val533delinsIle)
c.1527_1529del (p.Met509_Val510delinsIle)
c.1426_1428del (p.Gly476del)
c.1398_1400del (p.Met466_Val467delinsIle)
c.214+33210_214+33212del (n.214+33210_214+33212del)
8g.142874435C>ACA372390870CYP11B1,GMLc.1450G>T (p.Val484Phe)
n.1647G>T
c.1663G>T (p.Val555Phe)
c.1252G>T (p.Val418Phe)
c.484G>T (p.Val162Phe)
c.181+33210C>A (n.181+33210C>A)
c.1688G>T (p.Gly563Val)
c.1619G>T (p.Gly540Val)
c.1610G>T (p.Gly537Val)
c.1597G>T (p.Val533Phe)
c.1528G>T (p.Val510Phe)
c.1427G>T (p.Gly476Val)
c.1399G>T (p.Val467Phe)
c.214+33210C>A (n.214+33210C>A)
8g.142874435C>GCA372390873CYP11B1,GMLc.1450G>C (p.Val484Leu)
n.1647G>C
c.1663G>C (p.Val555Leu)
c.1252G>C (p.Val418Leu)
c.484G>C (p.Val162Leu)
c.181+33210C>G (n.181+33210C>G)
c.1688G>C (p.Gly563Ala)
c.1619G>C (p.Gly540Ala)
c.1610G>C (p.Gly537Ala)
c.1597G>C (p.Val533Leu)
c.1528G>C (p.Val510Leu)
c.1427G>C (p.Gly476Ala)
c.1399G>C (p.Val467Leu)
c.214+33210C>G (n.214+33210C>G)
8g.142874435C>TCA372390875CYP11B1,GMLc.1450G>A (p.Val484Ile)
n.1647G>A
c.1663G>A (p.Val555Ile)
c.1252G>A (p.Val418Ile)
c.484G>A (p.Val162Ile)
c.181+33210C>T (n.181+33210C>T)
c.1688G>A (p.Gly563Asp)
c.1619G>A (p.Gly540Asp)
c.1610G>A (p.Gly537Asp)
c.1597G>A (p.Val533Ile)
c.1528G>A (p.Val510Ile)
c.1427G>A (p.Gly476Asp)
c.1399G>A (p.Val467Ile)
c.214+33210C>T (n.214+33210C>T)
8g.142874436C>ACA372390878CYP11B1,GMLc.1449G>T (p.Met483Ile)
n.1646G>T
c.1662G>T (p.Met554Ile)
c.1251G>T (p.Met417Ile)
c.483G>T (p.Met161Ile)
c.181+33211C>A (n.181+33211C>A)
c.1687G>T (p.Gly563Cys)
c.1618G>T (p.Gly540Cys)
c.1609G>T (p.Gly537Cys)
c.1596G>T (p.Met532Ile)
c.1527G>T (p.Met509Ile)
c.1426G>T (p.Gly476Cys)
c.1398G>T (p.Met466Ile)
c.214+33211C>A (n.214+33211C>A)
8g.142874436C=CA1825495790CYP11B1,GMLc.1449G= (p.Met483=)
n.1646G=
c.1662G= (p.Met554=)
c.1251G= (p.Met417=)
c.483G= (p.Met161=)
c.181+33211C= (n.181+33211C=)
c.1687G= (p.Gly563=)
c.1618G= (p.Gly540=)
c.1609G= (p.Gly537=)
c.1596G= (p.Met532=)
c.1527G= (p.Met509=)
c.1426G= (p.Gly476=)
c.1398G= (p.Met466=)
c.214+33211C= (n.214+33211C=)
8g.142874436C>GCA372390880CYP11B1,GMLc.1449G>C (p.Met483Ile)
n.1646G>C
c.1662G>C (p.Met554Ile)
c.1251G>C (p.Met417Ile)
c.483G>C (p.Met161Ile)
c.181+33211C>G (n.181+33211C>G)
c.1687G>C (p.Gly563Arg)
c.1618G>C (p.Gly540Arg)
c.1609G>C (p.Gly537Arg)
c.1596G>C (p.Met532Ile)
c.1527G>C (p.Met509Ile)
c.1426G>C (p.Gly476Arg)
c.1398G>C (p.Met466Ile)
c.214+33211C>G (n.214+33211C>G)
8g.142874436C>TCA372390882CYP11B1,GMLc.1449G>A (p.Met483Ile)
n.1646G>A
c.1662G>A (p.Met554Ile)
c.1251G>A (p.Met417Ile)
c.483G>A (p.Met161Ile)
c.181+33211C>T (n.181+33211C>T)
c.1687G>A (p.Gly563Ser)
c.1618G>A (p.Gly540Ser)
c.1609G>A (p.Gly537Ser)
c.1596G>A (p.Met532Ile)
c.1527G>A (p.Met509Ile)
c.1426G>A (p.Gly476Ser)
c.1398G>A (p.Met466Ile)
c.214+33211C>T (n.214+33211C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.142874437A>CCA372390886CYP11B1,GMLc.1448T>G (p.Met483Arg)
n.1645T>G
c.1661T>G (p.Met554Arg)
c.1250T>G (p.Met417Arg)
c.482T>G (p.Met161Arg)
c.181+33212A>C (n.181+33212A>C)
c.1686T>G (p.Asp562Glu)
c.1617T>G (p.Asp539Glu)
c.1608T>G (p.Asp536Glu)
c.1595T>G (p.Met532Arg)
c.1526T>G (p.Met509Arg)
c.1425T>G (p.Asp475Glu)
c.1397T>G (p.Met466Arg)
c.214+33212A>C (n.214+33212A>C)
8g.142874437A>GCA372390889CYP11B1,GMLc.1448T>C (p.Met483Thr)
n.1645T>C
c.1661T>C (p.Met554Thr)
c.1250T>C (p.Met417Thr)
c.482T>C (p.Met161Thr)
c.181+33212A>G (n.181+33212A>G)
c.1686T>C (p.Asp562=)
c.1617T>C (p.Asp539=)
c.1608T>C (p.Asp536=)
c.1595T>C (p.Met532Thr)
c.1526T>C (p.Met509Thr)
c.1425T>C (p.Asp475=)
c.1397T>C (p.Met466Thr)
c.214+33212A>G (n.214+33212A>G)
 gnomAD v4
8g.142874437A>TCA372390887CYP11B1,GMLc.1448T>A (p.Met483Lys)
n.1645T>A
c.1661T>A (p.Met554Lys)
c.1250T>A (p.Met417Lys)
c.482T>A (p.Met161Lys)
c.181+33212A>T (n.181+33212A>T)
c.1686T>A (p.Asp562Glu)
c.1617T>A (p.Asp539Glu)
c.1608T>A (p.Asp536Glu)
c.1595T>A (p.Met532Lys)
c.1526T>A (p.Met509Lys)
c.1425T>A (p.Asp475Glu)
c.1397T>A (p.Met466Lys)
c.214+33212A>T (n.214+33212A>T)
8g.142874438T>ACA372390893CYP11B1,GMLc.1447A>T (p.Met483Leu)
n.1644A>T
c.1660A>T (p.Met554Leu)
c.1249A>T (p.Met417Leu)
c.481A>T (p.Met161Leu)
c.181+33213T>A (n.181+33213T>A)
c.1685A>T (p.Asp562Val)
c.1616A>T (p.Asp539Val)
c.1607A>T (p.Asp536Val)
c.1594A>T (p.Met532Leu)
c.1525A>T (p.Met509Leu)
c.1424A>T (p.Asp475Val)
c.1396A>T (p.Met466Leu)
c.214+33213T>A (n.214+33213T>A)
8g.142874438T>CCA372390896CYP11B1,GMLc.1447A>G (p.Met483Val)
n.1644A>G
c.1660A>G (p.Met554Val)
c.1249A>G (p.Met417Val)
c.481A>G (p.Met161Val)
c.181+33213T>C (n.181+33213T>C)
c.1685A>G (p.Asp562Gly)
c.1616A>G (p.Asp539Gly)
c.1607A>G (p.Asp536Gly)
c.1594A>G (p.Met532Val)
c.1525A>G (p.Met509Val)
c.1424A>G (p.Asp475Gly)
c.1396A>G (p.Met466Val)
c.214+33213T>C (n.214+33213T>C)
 gnomAD v4
8g.142874438T>GCA372390897CYP11B1,GMLc.1447A>C (p.Met483Leu)
n.1644A>C
c.1660A>C (p.Met554Leu)
c.1249A>C (p.Met417Leu)
c.481A>C (p.Met161Leu)
c.181+33213T>G (n.181+33213T>G)
c.1685A>C (p.Asp562Ala)
c.1616A>C (p.Asp539Ala)
c.1607A>C (p.Asp536Ala)
c.1594A>C (p.Met532Leu)
c.1525A>C (p.Met509Leu)
c.1424A>C (p.Asp475Ala)
c.1396A>C (p.Met466Leu)
c.214+33213T>G (n.214+33213T>G)
8g.142874438_142874445delinsCTTTTACA2695210354CYP11B1,GMLc.1440_1447delinsTAAAAG (p.Ile481LysfsTer?)
n.1637_1644delinsTAAAAG
c.1653_1660delinsTAAAAG (p.Ile552LysfsTer?)
c.1242_1249delinsTAAAAG (p.Ile415LysfsTer?)
c.474_481delinsTAAAAG (p.Ile159LysfsTer?)
c.181+33213_181+33220delinsCTTTTA (n.181+33213_181+33220delinsCTTTTA)
c.1678_1685delinsTAAAAG (p.His560Ter)
c.1609_1616delinsTAAAAG (p.His537Ter)
c.1600_1607delinsTAAAAG (p.His534Ter)
c.1587_1594delinsTAAAAG (p.Ile530LysfsTer?)
c.1518_1525delinsTAAAAG (p.Ile507LysfsTer?)
c.1417_1424delinsTAAAAG (p.His473Ter)
c.1389_1396delinsTAAAAG (p.Ile464LysfsTer?)
c.214+33213_214+33220delinsCTTTTA (n.214+33213_214+33220delinsCTTTTA)

Number of alleles fetched