| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 8 | g.142874444T>A | CA372390919 | CYP11B1,GML | c.1441A>T (p.Ile481Leu) n.1638A>T c.1654A>T (p.Ile552Leu) c.1243A>T (p.Ile415Leu) c.475A>T (p.Ile159Leu) c.181+33219T>A (n.181+33219T>A) c.1679A>T (p.His560Leu) c.1610A>T (p.His537Leu) c.1601A>T (p.His534Leu) c.1588A>T (p.Ile530Leu) c.1519A>T (p.Ile507Leu) c.1418A>T (p.His473Leu) c.1390A>T (p.Ile464Leu) c.214+33219T>A (n.214+33219T>A) | |
| 8 | g.142874444T>C | CA372390921 | CYP11B1,GML | c.1441A>G (p.Ile481Val) n.1638A>G c.1654A>G (p.Ile552Val) c.1243A>G (p.Ile415Val) c.475A>G (p.Ile159Val) c.181+33219T>C (n.181+33219T>C) c.1679A>G (p.His560Arg) c.1610A>G (p.His537Arg) c.1601A>G (p.His534Arg) c.1588A>G (p.Ile530Val) c.1519A>G (p.Ile507Val) c.1418A>G (p.His473Arg) c.1390A>G (p.Ile464Val) c.214+33219T>C (n.214+33219T>C) | dbSNP gnomAD v4 |
| 8 | g.142874444T>G | CA372390923 | CYP11B1,GML | c.1441A>C (p.Ile481Leu) n.1638A>C c.1654A>C (p.Ile552Leu) c.1243A>C (p.Ile415Leu) c.475A>C (p.Ile159Leu) c.181+33219T>G (n.181+33219T>G) c.1679A>C (p.His560Pro) c.1610A>C (p.His537Pro) c.1601A>C (p.His534Pro) c.1588A>C (p.Ile530Leu) c.1519A>C (p.Ile507Leu) c.1418A>C (p.His473Pro) c.1390A>C (p.Ile464Leu) c.214+33219T>G (n.214+33219T>G) | |
| 8 | g.142874444T= | CA1825495793 | CYP11B1,GML | c.1441A= (p.Ile481=) n.1638A= c.1654A= (p.Ile552=) c.1243A= (p.Ile415=) c.475A= (p.Ile159=) c.181+33219T= (n.181+33219T=) c.1679A= (p.His560=) c.1610A= (p.His537=) c.1601A= (p.His534=) c.1588A= (p.Ile530=) c.1519A= (p.Ile507=) c.1418A= (p.His473=) c.1390A= (p.Ile464=) c.214+33219T= (n.214+33219T=) | |
| 8 | g.142874445G>A | CA4904951 | CYP11B1,GML | c.1440C>T (p.Asp480=) n.1637C>T c.1653C>T (p.Asp551=) c.1242C>T (p.Asp414=) c.474C>T (p.Asp158=) c.181+33220G>A (n.181+33220G>A) c.1678C>T (p.His560Tyr) c.1609C>T (p.His537Tyr) c.1600C>T (p.His534Tyr) c.1587C>T (p.Asp529=) c.1518C>T (p.Asp506=) c.1417C>T (p.His473Tyr) c.1389C>T (p.Asp463=) c.214+33220G>A (n.214+33220G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142874445G>C | CA372390927 | CYP11B1,GML | c.1440C>G (p.Asp480Glu) n.1637C>G c.1653C>G (p.Asp551Glu) c.1242C>G (p.Asp414Glu) c.474C>G (p.Asp158Glu) c.181+33220G>C (n.181+33220G>C) c.1678C>G (p.His560Asp) c.1609C>G (p.His537Asp) c.1600C>G (p.His534Asp) c.1587C>G (p.Asp529Glu) c.1518C>G (p.Asp506Glu) c.1417C>G (p.His473Asp) c.1389C>G (p.Asp463Glu) c.214+33220G>C (n.214+33220G>C) | |
| 8 | g.142874445G= | CA1825495794 | CYP11B1,GML | c.1440C= (p.Asp480=) n.1637C= c.1653C= (p.Asp551=) c.1242C= (p.Asp414=) c.474C= (p.Asp158=) c.181+33220G= (n.181+33220G=) c.1678C= (p.His560=) c.1609C= (p.His537=) c.1600C= (p.His534=) c.1587C= (p.Asp529=) c.1518C= (p.Asp506=) c.1417C= (p.His473=) c.1389C= (p.Asp463=) c.214+33220G= (n.214+33220G=) | |
| 8 | g.142874445G>T | CA372390929 | CYP11B1,GML | c.1440C>A (p.Asp480Glu) n.1637C>A c.1653C>A (p.Asp551Glu) c.1242C>A (p.Asp414Glu) c.474C>A (p.Asp158Glu) c.181+33220G>T (n.181+33220G>T) c.1678C>A (p.His560Asn) c.1609C>A (p.His537Asn) c.1600C>A (p.His534Asn) c.1587C>A (p.Asp529Glu) c.1518C>A (p.Asp506Glu) c.1417C>A (p.His473Asn) c.1389C>A (p.Asp463Glu) c.214+33220G>T (n.214+33220G>T) | |
| 8 | g.142874446T>A | CA372390934 | CYP11B1,GML | c.1439A>T (p.Asp480Val) n.1636A>T c.1652A>T (p.Asp551Val) c.1241A>T (p.Asp414Val) c.473A>T (p.Asp158Val) c.181+33221T>A (n.181+33221T>A) c.1677A>T (p.Gly559=) c.1608A>T (p.Gly536=) c.1599A>T (p.Gly533=) c.1586A>T (p.Asp529Val) c.1517A>T (p.Asp506Val) c.1416A>T (p.Gly472=) c.1388A>T (p.Asp463Val) c.214+33221T>A (n.214+33221T>A) | |
| 8 | g.142874446T>C | CA187460061 | CYP11B1,GML | c.1439A>G (p.Asp480Gly) n.1636A>G c.1652A>G (p.Asp551Gly) c.1241A>G (p.Asp414Gly) c.473A>G (p.Asp158Gly) c.181+33221T>C (n.181+33221T>C) c.1677A>G (p.Gly559=) c.1608A>G (p.Gly536=) c.1599A>G (p.Gly533=) c.1586A>G (p.Asp529Gly) c.1517A>G (p.Asp506Gly) c.1416A>G (p.Gly472=) c.1388A>G (p.Asp463Gly) c.214+33221T>C (n.214+33221T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142874446T>G | CA372390932 | CYP11B1,GML | c.1439A>C (p.Asp480Ala) n.1636A>C c.1652A>C (p.Asp551Ala) c.1241A>C (p.Asp414Ala) c.473A>C (p.Asp158Ala) c.181+33221T>G (n.181+33221T>G) c.1677A>C (p.Gly559=) c.1608A>C (p.Gly536=) c.1599A>C (p.Gly533=) c.1586A>C (p.Asp529Ala) c.1517A>C (p.Asp506Ala) c.1416A>C (p.Gly472=) c.1388A>C (p.Asp463Ala) c.214+33221T>G (n.214+33221T>G) | |
| 8 | g.142874446T= | CA1825495795 | CYP11B1,GML | c.1439A= (p.Asp480=) n.1636A= c.1652A= (p.Asp551=) c.1241A= (p.Asp414=) c.473A= (p.Asp158=) c.181+33221T= (n.181+33221T=) c.1677A= (p.Gly559=) c.1608A= (p.Gly536=) c.1599A= (p.Gly533=) c.1586A= (p.Asp529=) c.1517A= (p.Asp506=) c.1416A= (p.Gly472=) c.1388A= (p.Asp463=) c.214+33221T= (n.214+33221T=) | |
| 8 | g.142874446_142874447delinsTC | CA1825495796 | CYP11B1,GML | c.1438_1439delinsGA (p.Asp480=) n.1635_1636delinsGA c.1651_1652delinsGA (p.Asp551=) c.1240_1241delinsGA (p.Asp414=) c.472_473delinsGA (p.Asp158=) c.181+33221_181+33222delinsTC (n.181+33221_181+33222delinsTC) c.1676_1677delinsGA (p.Gly559=) c.1607_1608delinsGA (p.Gly536=) c.1598_1599delinsGA (p.Gly533=) c.1585_1586delinsGA (p.Asp529=) c.1516_1517delinsGA (p.Asp506=) c.1415_1416delinsGA (p.Gly472=) c.1387_1388delinsGA (p.Asp463=) c.214+33221_214+33222delinsTC (n.214+33221_214+33222delinsTC) | |
| 8 | g.142874447C>A | CA372390938 | CYP11B1,GML | c.1438G>T (p.Asp480Tyr) n.1635G>T c.1651G>T (p.Asp551Tyr) c.1240G>T (p.Asp414Tyr) c.472G>T (p.Asp158Tyr) c.181+33222C>A (n.181+33222C>A) c.1676G>T (p.Gly559Val) c.1607G>T (p.Gly536Val) c.1598G>T (p.Gly533Val) c.1585G>T (p.Asp529Tyr) c.1516G>T (p.Asp506Tyr) c.1415G>T (p.Gly472Val) c.1387G>T (p.Asp463Tyr) c.214+33222C>A (n.214+33222C>A) |