Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.142874346G>A | CA585384335 | CYP11B1,GML | c.*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 |
8 | g.142874346G>C | CA2718459501 | CYP11B1,GML | c.*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 |
8 | g.142874346G= | CA1825495748 | CYP11B1,GML | c.*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=) | |
8 | g.142874346G>T | CA2688872821 | CYP11B1,GML | c.*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 |
8 | g.142874347C>T | CA2688872822 | CYP11B1,GML | c.*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 |
8 | g.142874349G= | CA1825495749 | CYP11B1,GML | c.*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=) | |
8 | g.142874349G>T | CA187459972 | CYP11B1,GML | c.*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 |
8 | g.142874350G>A | CA2688872823 | CYP11B1,GML | c.*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 |
8 | g.142874351G>A | CA2688872824 | CYP11B1,GML | c.*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 |
8 | g.142874351G>T | CA2688872825 | CYP11B1,GML | c.*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 |
8 | g.142874352A>T | CA2688872826 | CYP11B1,GML | c.*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 |
8 | g.142874353C>A | CA2688872827 | CYP11B1,GML | c.*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 |
8 | g.142874353C>T | CA2688872828 | CYP11B1,GML | c.*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 |
8 | g.142874354C= | CA1825495750 | CYP11B1,GML | c.*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=) | |
8 | g.142874354C>G | CA1825495751 | CYP11B1,GML | c.*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 |
8 | g.142874355C>A | CA1825495753 | CYP11B1,GML | c.*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 |
8 | g.142874355C= | CA1825495752 | CYP11B1,GML | c.*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=) | |
8 | g.142874355C>T | CA4904929 | CYP11B1,GML | c.*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 |
8 | g.142874356T>C | CA4904930 | CYP11B1,GML | c.*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 |
8 | g.142874356T>G | CA4904931 | CYP11B1,GML | c.*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 |
8 | g.142874356T= | CA1825495754 | CYP11B1,GML | c.*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=) | |
8 | g.142874357G= | CA1825495755 | CYP11B1,GML | c.*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=) | |
8 | g.142874357G>T | CA4904932 | CYP11B1,GML | c.*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 |
8 | g.142874359del | CA2688872829 | CYP11B1,GML | c.*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 |
8 | g.142874358G= | CA1825495756 | CYP11B1,GML | c.*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=) | |
8 | g.142874358G>T | CA4904933 | CYP11B1,GML | c.*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 |
8 | g.142874359G>A | CA585384336 | CYP11B1,GML | c.*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 |
8 | g.142874359G= | CA1825495757 | CYP11B1,GML | c.*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=) | |
8 | g.142874359G>T | CA4904934 | CYP11B1,GML | c.*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 |
8 | g.142874360T>G | CA1825495758 | CYP11B1,GML | c.*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 |
8 | g.142874360T= | CA1825495759 | CYP11B1,GML | c.*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=) | |
8 | g.142874361G= | CA1825495760 | CYP11B1,GML | c.*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=) | |
8 | g.142874361G>T | CA1825495761 | CYP11B1,GML | c.*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 |
8 | g.142874362C>T | CA2566189915 | CYP11B1,GML | c.*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 |
8 | g.142874363A= | CA1825495762 | CYP11B1,GML | c.*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=) | |
8 | g.142874363A>G | CA4904935 | CYP11B1,GML | c.*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 |
8 | g.142874366G>T | CA2520092672 | CYP11B1,GML | c.*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 |
8 | g.142874367A= | CA1825495763 | CYP11B1,GML | c.*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=) | |
8 | g.142874367A>G | CA4904936 | CYP11B1,GML | c.*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 |
8 | g.142874368C>A | CA2688872830 | CYP11B1,GML | c.*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 |
8 | g.142874368C= | CA1825495764 | CYP11B1,GML | c.*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=) | |
8 | g.142874368C>G | CA2688872831 | CYP11B1,GML | c.*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 |
8 | g.142874368C>T | CA4904937 | CYP11B1,GML | c.*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 |
8 | g.142874369G>A | CA4904938 | CYP11B1,GML | c.*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 |
8 | g.142874369G= | CA1825495765 | CYP11B1,GML | c.*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=) | |
8 | g.142874370T>A | CA585384337 | CYP11B1,GML | c.*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 |
8 | g.142874370T>G | CA1825495767 | CYP11B1,GML | c.*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 |
8 | g.142874370T= | CA1825495766 | CYP11B1,GML | c.*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=) | |
8 | g.142874371G>C | CA2579268085 | CYP11B1,GML | c.*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) | |
8 | g.142874373T>A | CA372390476 | CYP11B1,GML | c.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) | |
8 | g.142874373T>C | CA463324826 | CYP11B1,GML | c.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 |
8 | g.142874373T>G | CA372390482 | CYP11B1,GML | c.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) | |
8 | g.142874374del | CA2579268086 | CYP11B1,GML | c.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) | |
8 | g.142874374T>A | CA372390485 | CYP11B1,GML | c.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) | |
8 | g.142874374T>C | CA463324831 | CYP11B1,GML | c.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) | |
8 | g.142874374T>G | CA372390488 | CYP11B1,GML | c.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) | |
8 | g.142874375A>C | CA372390491 | CYP11B1,GML | c.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) | |
8 | g.142874375A>G | CA372390494 | CYP11B1,GML | c.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) | |
8 | g.142874375A>T | CA372390496 | CYP11B1,GML | c.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) | |
8 | g.142874376G>A | CA463324838 | CYP11B1,GML | c.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 |
8 | g.142874376G>C | CA372390499 | CYP11B1,GML | c.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) | |
8 | g.142874376G>T | CA372390500 | CYP11B1,GML | c.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) | |
8 | g.142874377T>A | CA372390501 | CYP11B1,GML | c.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) | |
8 | g.142874377T>C | CA372390502 | CYP11B1,GML | c.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) | |
8 | g.142874377T>G | CA372390503 | CYP11B1,GML | c.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) | |
8 | g.142874378T>A | CA372390505 | CYP11B1,GML | c.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) | |
8 | g.142874378T>C | CA372390508 | CYP11B1,GML | c.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) | |
8 | g.142874378T>G | CA372390506 | CYP11B1,GML | c.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) | |
8 | g.142874379G>A | CA463324849 | CYP11B1,GML | c.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) | |
8 | g.142874379G>C | CA372390515 | CYP11B1,GML | c.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 |
8 | g.142874379G>T | CA463324852 | CYP11B1,GML | c.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) | |
8 | g.142874380A= | CA1825495768 | CYP11B1,GML | c.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=) | |
8 | g.142874380A>C | CA372390520 | CYP11B1,GML | c.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) | |
8 | g.142874380A>G | CA372390518 | CYP11B1,GML | c.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 |
8 | g.142874380A>T | CA372390519 | CYP11B1,GML | c.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) | |
8 | g.142874381T>A | CA372390521 | CYP11B1,GML | c.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) | |
8 | g.142874381T>C | CA372390527 | CYP11B1,GML | c.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 |
8 | g.142874381T>G | CA372390528 | CYP11B1,GML | c.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) | |
8 | g.142874381T= | CA1825495769 | CYP11B1,GML | c.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=) | |
8 | g.142874382G>A | CA463324862 | CYP11B1,GML | c.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 |
8 | g.142874382G>C | CA463324863 | CYP11B1,GML | c.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) | |
8 | g.142874382G>T | CA463324866 | CYP11B1,GML | c.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) | |
8 | g.142874383G>A | CA372390534 | CYP11B1,GML | c.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) | |
8 | g.142874383G>C | CA372390537 | CYP11B1,GML | c.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 |
8 | g.142874383G>T | CA372390539 | CYP11B1,GML | c.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 |
8 | g.142874384C>A | CA372390542 | CYP11B1,GML | c.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) | |
8 | g.142874384C>G | CA372390544 | CYP11B1,GML | c.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) | |
8 | g.142874384C>T | CA372390547 | CYP11B1,GML | c.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) | |
8 | g.142874385T>A | CA372390554 | CYP11B1,GML | c.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) | |
8 | g.142874385T>C | CA463324875 | CYP11B1,GML | c.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 |
8 | g.142874385T>G | CA372390558 | CYP11B1,GML | c.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 |
8 | g.142874385T= | CA1825495770 | CYP11B1,GML | c.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=) | |
8 | g.142874386C>A | CA372390560 | CYP11B1,GML | c.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) | |
8 | g.142874386C>G | CA372390564 | CYP11B1,GML | c.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) | |
8 | g.142874386C>T | CA372390563 | CYP11B1,GML | c.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 |
8 | g.142874387T>A | CA372390566 | CYP11B1,GML | c.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) | |
8 | g.142874387T>C | CA372390568 | CYP11B1,GML | c.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) | |
8 | g.142874387T>G | CA463324884 | CYP11B1,GML | c.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) | |
8 | g.142874388G>A | CA463324886 | CYP11B1,GML | c.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 |
8 | g.142874388G>C | CA372390576 | CYP11B1,GML | c.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) | |
8 | g.142874388G>T | CA372390580 | CYP11B1,GML | c.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) | |
8 | g.142874389A>C | CA372390583 | CYP11B1,GML | c.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) | |
8 | g.142874389A>G | CA372390585 | CYP11B1,GML | c.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) | |
8 | g.142874389A>T | CA372390589 | CYP11B1,GML | c.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 |
8 | g.142874390A>C | CA372390593 | CYP11B1,GML | c.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) | |
8 | g.142874390A>G | CA372390595 | CYP11B1,GML | c.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 |
8 | g.142874390A>T | CA372390597 | CYP11B1,GML | c.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) | |
8 | g.142874391G>A | CA463324897 | CYP11B1,GML | c.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 |
8 | g.142874391G>C | CA463324900 | CYP11B1,GML | c.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) | |
8 | g.142874391G= | CA1825495771 | CYP11B1,GML | c.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=) | |
8 | g.142874391G>T | CA463324899 | CYP11B1,GML | c.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 |
8 | g.142874392G>A | CA372390602 | CYP11B1,GML | c.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 |
8 | g.142874392G>C | CA372390601 | CYP11B1,GML | c.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 |
8 | g.142874392G>T | CA372390600 | CYP11B1,GML | c.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) | |
8 | g.142874393T>A | CA372390603 | CYP11B1,GML | c.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) | |
8 | g.142874393T>C | CA372390606 | CYP11B1,GML | c.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) | |
8 | g.142874393T>G | CA372390611 | CYP11B1,GML | c.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 |
8 | g.142874393T= | CA1825495772 | CYP11B1,GML | c.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=) | |
8 | g.142874394G>A | CA463324908 | CYP11B1,GML | c.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) | |
8 | g.142874394G>C | CA463324910 | CYP11B1,GML | c.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 |
8 | g.142874394G>T | CA463324911 | CYP11B1,GML | c.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) | |
8 | g.142874395A>C | CA372390617 | CYP11B1,GML | c.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) | |
8 | g.142874395A>G | CA372390619 | CYP11B1,GML | c.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) | |
8 | g.142874395A>T | CA372390621 | CYP11B1,GML | c.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) | |
8 | g.142874396G>A | CA372390624 | CYP11B1,GML | c.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) | |
8 | g.142874396G>C | CA372390622 | CYP11B1,GML | c.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) | |
8 | g.142874396G>T | CA372390623 | CYP11B1,GML | c.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) | |
8 | g.142874397G>A | CA4904939 | CYP11B1,GML | c.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 |
8 | g.142874397G>C | CA463324927 | CYP11B1,GML | c.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 |
8 | g.142874397G= | CA1825495773 | CYP11B1,GML | c.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=) | |
8 | g.142874397G>T | CA4904940 | CYP11B1,GML | c.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 |
8 | g.142874398_142874399del | CA913128494 | CYP11B1,GML | c.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) | |
8 | g.142874398del | CA2573332162 | CYP11B1,GML | c.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 |
8 | g.142874398A>C | CA372390628 | CYP11B1,GML | c.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) | |
8 | g.142874398A>G | CA372390629 | CYP11B1,GML | c.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) | |
8 | g.142874398A>T | CA372390630 | CYP11B1,GML | c.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) | |
8 | g.142874398_142874399delinsAG | CA1825495774 | CYP11B1,GML | c.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) | |
8 | g.142874399G>A | CA372390632 | CYP11B1,GML | c.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) | |
8 | g.142874399G>C | CA372390651 | CYP11B1,GML | c.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) | |
8 | g.142874399G>T | CA372390640 | CYP11B1,GML | c.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) | |
8 | g.142874403del | CA658823247 | CYP11B1,GML | c.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 |
8 | g.142874400G>A | CA463324937 | CYP11B1,GML | c.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) | |
8 | g.142874400G>C | CA463324939 | CYP11B1,GML | c.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 |
8 | g.142874400G= | CA1825495775 | CYP11B1,GML | c.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=) | |
8 | g.142874400G>T | CA463324941 | CYP11B1,GML | c.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 |
8 | g.142874401G>A | CA372390656 | CYP11B1,GML | c.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) | |
8 | g.142874401G>C | CA372390659 | CYP11B1,GML | c.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) | |
8 | g.142874401G>T | CA372390661 | CYP11B1,GML | c.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) | |
8 | g.142874402G>A | CA372390662 | CYP11B1,GML | c.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) | |
8 | g.142874402G>C | CA372390663 | CYP11B1,GML | c.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) | |
8 | g.142874402G>T | CA372390664 | CYP11B1,GML | c.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) | |
8 | g.142874403G>A | CA463324950 | CYP11B1,GML | c.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) | |
8 | g.142874403G>C | CA372390666 | CYP11B1,GML | c.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) | |
8 | g.142874403G>T | CA372390667 | CYP11B1,GML | c.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) | |
8 | g.142874404A>C | CA372390668 | CYP11B1,GML | c.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) | |
8 | g.142874404A>G | CA372390670 | CYP11B1,GML | c.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 |
8 | g.142874404A>T | CA372390672 | CYP11B1,GML | c.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) | |
8 | g.142874405A>C | CA372390679 | CYP11B1,GML | c.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) | |
8 | g.142874405A>G | CA372390681 | CYP11B1,GML | c.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) | |
8 | g.142874405A>T | CA372390675 | CYP11B1,GML | c.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) | |
8 | g.142874406C>A | CA372390685 | CYP11B1,GML | c.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 |
8 | g.142874406C= | CA1825495776 | CYP11B1,GML | c.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=) | |
8 | g.142874406C>G | CA372390684 | CYP11B1,GML | c.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) | |
8 | g.142874406C>T | CA4904941 | CYP11B1,GML | c.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 |
8 | g.142874407A>C | CA372390688 | CYP11B1,GML | c.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) | |
8 | g.142874407A>G | CA372390689 | CYP11B1,GML | c.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 |
8 | g.142874407A>T | CA372390693 | CYP11B1,GML | c.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) | |
8 | g.142874408T>A | CA372390697 | CYP11B1,GML | c.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) | |
8 | g.142874408T>C | CA372390700 | CYP11B1,GML | c.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) | |
8 | g.142874408T>G | CA372390703 | CYP11B1,GML | c.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) | |
8 | g.142874409G>A | CA463324972 | CYP11B1,GML | c.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) | |
8 | g.142874409G>C | CA372390709 | CYP11B1,GML | c.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) | |
8 | g.142874409G>T | CA372390706 | CYP11B1,GML | c.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 |
8 | g.142874410C>A | CA372390713 | CYP11B1,GML | c.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) | |
8 | g.142874410C= | CA1825495777 | CYP11B1,GML | c.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=) | |
8 | g.142874410C>G | CA372390721 | CYP11B1,GML | c.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) | |
8 | g.142874410C>T | CA4904942 | CYP11B1,GML | c.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 |
8 | g.142874411T>A | CA4904943 | CYP11B1,GML | c.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 |
8 | g.142874411T>C | CA372390727 | CYP11B1,GML | c.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 |
8 | g.142874411T>G | CA372390730 | CYP11B1,GML | c.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) | |
8 | g.142874411T= | CA1825495778 | CYP11B1,GML | c.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=) | |
8 | g.142874412G>A | CA463324984 | CYP11B1,GML | c.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 |
8 | g.142874412G>C | CA463324986 | CYP11B1,GML | c.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) | |
8 | g.142874412G= | CA1825495779 | CYP11B1,GML | c.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=) | |
8 | g.142874412G>T | CA463324983 | CYP11B1,GML | c.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 |
8 | g.142874413G>A | CA372390732 | CYP11B1,GML | c.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) | |
8 | g.142874413G>C | CA372390736 | CYP11B1,GML | c.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 |
8 | g.142874413G= | CA1825495780 | CYP11B1,GML | c.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=) | |
8 | g.142874413G>T | CA372390734 | CYP11B1,GML | c.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) | |
8 | g.142874414G>A | CA372390739 | CYP11B1,GML | c.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 |
8 | g.142874414G>C | CA372390748 | CYP11B1,GML | c.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 |
8 | g.142874414G= | CA1825495781 | CYP11B1,GML | c.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=) | |
8 | g.142874414G>T | CA372390752 | CYP11B1,GML | c.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) | |
8 | g.142874415C>A | CA372390755 | CYP11B1,GML | c.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) | |
8 | g.142874415C>G | CA372390757 | CYP11B1,GML | c.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) | |
8 | g.142874415C>T | CA463324998 | CYP11B1,GML | c.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) | |
8 | g.142874416C>A | CA372390762 | CYP11B1,GML | c.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) | |
8 | g.142874416C>G | CA372390765 | CYP11B1,GML | c.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) | |
8 | g.142874416C>T | CA372390766 | CYP11B1,GML | c.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) | |
8 | g.142874417T>A | CA372390770 | CYP11B1,GML | c.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) | |
8 | g.142874417T>C | CA372390771 | CYP11B1,GML | c.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) | |
8 | g.142874417T>G | CA463325006 | CYP11B1,GML | c.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) | |
8 | g.142874418C>A | CA372390777 | CYP11B1,GML | c.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) | |
8 | g.142874418C= | CA1825495782 | CYP11B1,GML | c.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=) | |
8 | g.142874418C>G | CA372390775 | CYP11B1,GML | c.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) | |
8 | g.142874418C>T | CA4904944 | CYP11B1,GML | c.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 |
8 | g.142874419A= | CA1825495783 | CYP11B1,GML | c.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=) | |
8 | g.142874419A>C | CA372390781 | CYP11B1,GML | c.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) | |
8 | g.142874419A>G | CA4904945 | CYP11B1,GML | c.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 |
8 | g.142874419A>T | CA372390785 | CYP11B1,GML | c.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) | |
8 | g.142874420A= | CA1825495784 | CYP11B1,GML | c.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=) | |
8 | g.142874420A>C | CA372390788 | CYP11B1,GML | c.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 |
8 | g.142874420A>G | CA4904946 | CYP11B1,GML | c.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 |
8 | g.142874420A>T | CA372390791 | CYP11B1,GML | c.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) | |
8 | g.142874421T>A | CA463325021 | CYP11B1,GML | c.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) | |
8 | g.142874421T>C | CA372390792 | CYP11B1,GML | c.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) | |
8 | g.142874421T>G | CA463325023 | CYP11B1,GML | c.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) | |
8 | g.142874422A>C | CA372390795 | CYP11B1,GML | c.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) | |
8 | g.142874422A>G | CA372390798 | CYP11B1,GML | c.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) | |
8 | g.142874422A>T | CA372390805 | CYP11B1,GML | c.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) | |
8 | g.142874423T>A | CA372390808 | CYP11B1,GML | c.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) | |
8 | g.142874423T>C | CA372390809 | CYP11B1,GML | c.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 |
8 | g.142874423T>G | CA372390810 | CYP11B1,GML | c.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) | |
8 | g.142874424G>A | CA463325033 | CYP11B1,GML | c.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 |
8 | g.142874424G>C | CA372390812 | CYP11B1,GML | c.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 |
8 | g.142874424G>T | CA372390811 | CYP11B1,GML | c.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) | |
8 | g.142874425A= | CA1825495785 | CYP11B1,GML | c.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=) | |
8 | g.142874425A>C | CA372390815 | CYP11B1,GML | c.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) | |
8 | g.142874425A>G | CA372390818 | CYP11B1,GML | c.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 |
8 | g.142874425A>T | CA372390820 | CYP11B1,GML | c.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) | |
8 | g.142874426A>C | CA372390822 | CYP11B1,GML | c.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) | |
8 | g.142874426A>G | CA372390824 | CYP11B1,GML | c.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 |
8 | g.142874426A>T | CA372390826 | CYP11B1,GML | c.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) | |
8 | g.142874427G>A | CA463325045 | CYP11B1,GML | c.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) | |
8 | g.142874427G>C | CA372390830 | CYP11B1,GML | c.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) | |
8 | g.142874427G>T | CA372390833 | CYP11B1,GML | c.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) | |
8 | g.142874428C>A | CA372390835 | CYP11B1,GML | c.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) | |
8 | g.142874428C>G | CA372390837 | CYP11B1,GML | c.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) | |
8 | g.142874428C>T | CA372390839 | CYP11B1,GML | c.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) | |
8 | g.142874429T>A | CA372390840 | CYP11B1,GML | c.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) | |
8 | g.142874429T>C | CA372390841 | CYP11B1,GML | c.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 |
8 | g.142874429T>G | CA372390843 | CYP11B1,GML | c.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) | |
8 | g.142874429T= | CA1825495786 | CYP11B1,GML | c.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=) | |
8 | g.142874430G>A | CA463325057 | CYP11B1,GML | c.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) | |
8 | g.142874430G>C | CA4904947 | CYP11B1,GML | c.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 |
8 | g.142874430G= | CA1825495787 | CYP11B1,GML | c.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=) | |
8 | g.142874430G>T | CA372390845 | CYP11B1,GML | c.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) | |
8 | g.142874431T>A | CA372390848 | CYP11B1,GML | c.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) | |
8 | g.142874431T>C | CA372390850 | CYP11B1,GML | c.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 |
8 | g.142874431T>G | CA372390852 | CYP11B1,GML | c.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) | |
8 | g.142874432A>C | CA372390855 | CYP11B1,GML | c.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) | |
8 | g.142874432A>G | CA372390857 | CYP11B1,GML | c.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) | |
8 | g.142874432A>T | CA372390859 | CYP11B1,GML | c.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) | |
8 | g.142874433G>A | CA463325068 | CYP11B1,GML | c.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) | |
8 | g.142874433G>C | CA463325072 | CYP11B1,GML | c.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 |
8 | g.142874433G= | CA1825495788 | CYP11B1,GML | c.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=) | |
8 | g.142874433G>T | CA463325070 | CYP11B1,GML | c.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) | |
8 | g.142874434A= | CA1825495789 | CYP11B1,GML | c.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=) | |
8 | g.142874434A>C | CA372390867 | CYP11B1,GML | c.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) | |
8 | g.142874434A>G | CA372390864 | CYP11B1,GML | c.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) | |
8 | g.142874434A>T | CA4904948 | CYP11B1,GML | c.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 |
8 | g.142874435_142874437del | CA2695210353 | CYP11B1,GML | c.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) | |
8 | g.142874435C>A | CA372390870 | CYP11B1,GML | c.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) | |
8 | g.142874435C>G | CA372390873 | CYP11B1,GML | c.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) | |
8 | g.142874435C>T | CA372390875 | CYP11B1,GML | c.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) | |
8 | g.142874436C>A | CA372390878 | CYP11B1,GML | c.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) | |
8 | g.142874436C= | CA1825495790 | CYP11B1,GML | c.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=) | |
8 | g.142874436C>G | CA372390880 | CYP11B1,GML | c.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) | |
8 | g.142874436C>T | CA372390882 | CYP11B1,GML | c.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 |
8 | g.142874437A>C | CA372390886 | CYP11B1,GML | c.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) | |
8 | g.142874437A>G | CA372390889 | CYP11B1,GML | c.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 |
8 | g.142874437A>T | CA372390887 | CYP11B1,GML | c.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) | |
8 | g.142874438T>A | CA372390893 | CYP11B1,GML | c.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) | |
8 | g.142874438T>C | CA372390896 | CYP11B1,GML | c.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 |
8 | g.142874438T>G | CA372390897 | CYP11B1,GML | c.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) | |
8 | g.142874438_142874445delinsCTTTTA | CA2695210354 | CYP11B1,GML | c.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) | |
8 | g.142874439C>A | CA372390899 | CYP11B1,GML | c.1446G>T (p.Lys482Asn) n.1643G>T c.1659G>T (p.Lys553Asn) c.1248G>T (p.Lys416Asn) c.480G>T (p.Lys160Asn) c.181+33214C>A (n.181+33214C>A) c.1684G>T (p.Asp562Tyr) c.1615G>T (p.Asp539Tyr) c.1606G>T (p.Asp536Tyr) c.1593G>T (p.Lys531Asn) c.1524G>T (p.Lys508Asn) c.1423G>T (p.Asp475Tyr) c.1395G>T (p.Lys465Asn) c.214+33214C>A (n.214+33214C>A) | |
8 | g.142874439C= | CA1825495791 | CYP11B1,GML | c.1446G= (p.Lys482=) n.1643G= c.1659G= (p.Lys553=) c.1248G= (p.Lys416=) c.480G= (p.Lys160=) c.181+33214C= (n.181+33214C=) c.1684G= (p.Asp562=) c.1615G= (p.Asp539=) c.1606G= (p.Asp536=) c.1593G= (p.Lys531=) c.1524G= (p.Lys508=) c.1423G= (p.Asp475=) c.1395G= (p.Lys465=) c.214+33214C= (n.214+33214C=) | |
8 | g.142874439C>G | CA4904949 | CYP11B1,GML | c.1446G>C (p.Lys482Asn) n.1643G>C c.1659G>C (p.Lys553Asn) c.1248G>C (p.Lys416Asn) c.480G>C (p.Lys160Asn) c.181+33214C>G (n.181+33214C>G) c.1684G>C (p.Asp562His) c.1615G>C (p.Asp539His) c.1606G>C (p.Asp536His) c.1593G>C (p.Lys531Asn) c.1524G>C (p.Lys508Asn) c.1423G>C (p.Asp475His) c.1395G>C (p.Lys465Asn) c.214+33214C>G (n.214+33214C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.142874439C>T | CA463325093 | CYP11B1,GML | c.1446G>A (p.Lys482=) n.1643G>A c.1659G>A (p.Lys553=) c.1248G>A (p.Lys416=) c.480G>A (p.Lys160=) c.181+33214C>T (n.181+33214C>T) c.1684G>A (p.Asp562Asn) c.1615G>A (p.Asp539Asn) c.1606G>A (p.Asp536Asn) c.1593G>A (p.Lys531=) c.1524G>A (p.Lys508=) c.1423G>A (p.Asp475Asn) c.1395G>A (p.Lys465=) c.214+33214C>T (n.214+33214C>T) | |
8 | g.142874440T>A | CA372390901 | CYP11B1,GML | c.1445A>T (p.Lys482Met) n.1642A>T c.1658A>T (p.Lys553Met) c.1247A>T (p.Lys416Met) c.479A>T (p.Lys160Met) c.181+33215T>A (n.181+33215T>A) c.1683A>T (p.Lys561Asn) c.1614A>T (p.Lys538Asn) c.1605A>T (p.Lys535Asn) c.1592A>T (p.Lys531Met) c.1523A>T (p.Lys508Met) c.1422A>T (p.Lys474Asn) c.1394A>T (p.Lys465Met) c.214+33215T>A (n.214+33215T>A) | |
8 | g.142874440T>C | CA372390903 | CYP11B1,GML | c.1445A>G (p.Lys482Arg) n.1642A>G c.1658A>G (p.Lys553Arg) c.1247A>G (p.Lys416Arg) c.479A>G (p.Lys160Arg) c.181+33215T>C (n.181+33215T>C) c.1683A>G (p.Lys561=) c.1614A>G (p.Lys538=) c.1605A>G (p.Lys535=) c.1592A>G (p.Lys531Arg) c.1523A>G (p.Lys508Arg) c.1422A>G (p.Lys474=) c.1394A>G (p.Lys465Arg) c.214+33215T>C (n.214+33215T>C) | |
8 | g.142874440T>G | CA372390904 | CYP11B1,GML | c.1445A>C (p.Lys482Thr) n.1642A>C c.1658A>C (p.Lys553Thr) c.1247A>C (p.Lys416Thr) c.479A>C (p.Lys160Thr) c.181+33215T>G (n.181+33215T>G) c.1683A>C (p.Lys561Asn) c.1614A>C (p.Lys538Asn) c.1605A>C (p.Lys535Asn) c.1592A>C (p.Lys531Thr) c.1523A>C (p.Lys508Thr) c.1422A>C (p.Lys474Asn) c.1394A>C (p.Lys465Thr) c.214+33215T>G (n.214+33215T>G) | |
8 | g.142874441T>A | CA372390906 | CYP11B1,GML | c.1444A>T (p.Lys482Ter) n.1641A>T c.1657A>T (p.Lys553Ter) c.1246A>T (p.Lys416Ter) c.478A>T (p.Lys160Ter) c.181+33216T>A (n.181+33216T>A) c.1682A>T (p.Lys561Ile) c.1613A>T (p.Lys538Ile) c.1604A>T (p.Lys535Ile) c.1591A>T (p.Lys531Ter) c.1522A>T (p.Lys508Ter) c.1421A>T (p.Lys474Ile) c.1393A>T (p.Lys465Ter) c.214+33216T>A (n.214+33216T>A) | |
8 | g.142874441T>C | CA372390908 | CYP11B1,GML | c.1444A>G (p.Lys482Glu) n.1641A>G c.1657A>G (p.Lys553Glu) c.1246A>G (p.Lys416Glu) c.478A>G (p.Lys160Glu) c.181+33216T>C (n.181+33216T>C) c.1682A>G (p.Lys561Arg) c.1613A>G (p.Lys538Arg) c.1604A>G (p.Lys535Arg) c.1591A>G (p.Lys531Glu) c.1522A>G (p.Lys508Glu) c.1421A>G (p.Lys474Arg) c.1393A>G (p.Lys465Glu) c.214+33216T>C (n.214+33216T>C) | |
8 | g.142874441T>G | CA372390909 | CYP11B1,GML | c.1444A>C (p.Lys482Gln) n.1641A>C c.1657A>C (p.Lys553Gln) c.1246A>C (p.Lys416Gln) c.478A>C (p.Lys160Gln) c.181+33216T>G (n.181+33216T>G) c.1682A>C (p.Lys561Thr) c.1613A>C (p.Lys538Thr) c.1604A>C (p.Lys535Thr) c.1591A>C (p.Lys531Gln) c.1522A>C (p.Lys508Gln) c.1421A>C (p.Lys474Thr) c.1393A>C (p.Lys465Gln) c.214+33216T>G (n.214+33216T>G) | |
8 | g.142874442T>A | CA463325103 | CYP11B1,GML | c.1443A>T (p.Ile481=) n.1640A>T c.1656A>T (p.Ile552=) c.1245A>T (p.Ile415=) c.477A>T (p.Ile159=) c.181+33217T>A (n.181+33217T>A) c.1681A>T (p.Lys561Ter) c.1612A>T (p.Lys538Ter) c.1603A>T (p.Lys535Ter) c.1590A>T (p.Ile530=) c.1521A>T (p.Ile507=) c.1420A>T (p.Lys474Ter) c.1392A>T (p.Ile464=) c.214+33217T>A (n.214+33217T>A) | COSMIC |
8 | g.142874442T>C | CA4904950 | CYP11B1,GML | c.1443A>G (p.Ile481Met) n.1640A>G c.1656A>G (p.Ile552Met) c.1245A>G (p.Ile415Met) c.477A>G (p.Ile159Met) c.181+33217T>C (n.181+33217T>C) c.1681A>G (p.Lys561Glu) c.1612A>G (p.Lys538Glu) c.1603A>G (p.Lys535Glu) c.1590A>G (p.Ile530Met) c.1521A>G (p.Ile507Met) c.1420A>G (p.Lys474Glu) c.1392A>G (p.Ile464Met) c.214+33217T>C (n.214+33217T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.142874442T>G | CA463325106 | CYP11B1,GML | c.1443A>C (p.Ile481=) n.1640A>C c.1656A>C (p.Ile552=) c.1245A>C (p.Ile415=) c.477A>C (p.Ile159=) c.181+33217T>G (n.181+33217T>G) c.1681A>C (p.Lys561Gln) c.1612A>C (p.Lys538Gln) c.1603A>C (p.Lys535Gln) c.1590A>C (p.Ile530=) c.1521A>C (p.Ile507=) c.1420A>C (p.Lys474Gln) c.1392A>C (p.Ile464=) c.214+33217T>G (n.214+33217T>G) | |
8 | g.142874442T= | CA1825495792 | CYP11B1,GML | c.1443A= (p.Ile481=) n.1640A= c.1656A= (p.Ile552=) c.1245A= (p.Ile415=) c.477A= (p.Ile159=) c.181+33217T= (n.181+33217T=) c.1681A= (p.Lys561=) c.1612A= (p.Lys538=) c.1603A= (p.Lys535=) c.1590A= (p.Ile530=) c.1521A= (p.Ile507=) c.1420A= (p.Lys474=) c.1392A= (p.Ile464=) c.214+33217T= (n.214+33217T=) | |
8 | g.142874443A>C | CA372390917 | CYP11B1,GML | c.1442T>G (p.Ile481Arg) n.1639T>G c.1655T>G (p.Ile552Arg) c.1244T>G (p.Ile415Arg) c.476T>G (p.Ile159Arg) c.181+33218A>C (n.181+33218A>C) c.1680T>G (p.His560Gln) c.1611T>G (p.His537Gln) c.1602T>G (p.His534Gln) c.1589T>G (p.Ile530Arg) c.1520T>G (p.Ile507Arg) c.1419T>G (p.His473Gln) c.1391T>G (p.Ile464Arg) c.214+33218A>C (n.214+33218A>C) | gnomAD v4 |
8 | g.142874443A>G | CA372390913 | CYP11B1,GML | c.1442T>C (p.Ile481Thr) n.1639T>C c.1655T>C (p.Ile552Thr) c.1244T>C (p.Ile415Thr) c.476T>C (p.Ile159Thr) c.181+33218A>G (n.181+33218A>G) c.1680T>C (p.His560=) c.1611T>C (p.His537=) c.1602T>C (p.His534=) c.1589T>C (p.Ile530Thr) c.1520T>C (p.Ile507Thr) c.1419T>C (p.His473=) c.1391T>C (p.Ile464Thr) c.214+33218A>G (n.214+33218A>G) | |
8 | g.142874443A>T | CA372390915 | CYP11B1,GML | c.1442T>A (p.Ile481Lys) n.1639T>A c.1655T>A (p.Ile552Lys) c.1244T>A (p.Ile415Lys) c.476T>A (p.Ile159Lys) c.181+33218A>T (n.181+33218A>T) c.1680T>A (p.His560Gln) c.1611T>A (p.His537Gln) c.1602T>A (p.His534Gln) c.1589T>A (p.Ile530Lys) c.1520T>A (p.Ile507Lys) c.1419T>A (p.His473Gln) c.1391T>A (p.Ile464Lys) c.214+33218A>T (n.214+33218A>T) | gnomAD v4 |