| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143300556A>C | CA361869960 | NR3C1 | c.1676T>G (p.Ile559Ser) c.1583T>G (p.Ile528Ser) c.1679T>G (p.Ile560Ser) c.1598T>G (p.Ile533Ser) c.1421T>G (p.Ile474Ser) c.1409T>G (p.Ile470Ser) c.1385T>G (p.Ile462Ser) c.731T>G (p.Ile244Ser) c.686T>G (p.Ile229Ser) c.671T>G (p.Ile224Ser) c.485T>G (p.Ile162Ser) n.599T>G | |
| 5 | g.143300556A>G | CA361869961 | NR3C1 | c.1676T>C (p.Ile559Thr) c.1583T>C (p.Ile528Thr) c.1679T>C (p.Ile560Thr) c.1598T>C (p.Ile533Thr) c.1421T>C (p.Ile474Thr) c.1409T>C (p.Ile470Thr) c.1385T>C (p.Ile462Thr) c.731T>C (p.Ile244Thr) c.686T>C (p.Ile229Thr) c.671T>C (p.Ile224Thr) c.485T>C (p.Ile162Thr) n.599T>C | |
| 5 | g.143300556A>T | CA126225 | NR3C1 | c.1676T>A (p.Ile559Asn) c.1583T>A (p.Ile528Asn) c.1679T>A (p.Ile560Asn) c.1598T>A (p.Ile533Asn) c.1421T>A (p.Ile474Asn) c.1409T>A (p.Ile470Asn) c.1385T>A (p.Ile462Asn) c.731T>A (p.Ile244Asn) c.686T>A (p.Ile229Asn) c.671T>A (p.Ile224Asn) c.485T>A (p.Ile162Asn) n.599T>A | ClinVar dbSNP |
| 5 | g.143300557T>A | CA361869964 | NR3C1 | c.1675A>T (p.Ile559Phe) c.1582A>T (p.Ile528Phe) c.1678A>T (p.Ile560Phe) c.1597A>T (p.Ile533Phe) c.1420A>T (p.Ile474Phe) c.1408A>T (p.Ile470Phe) c.1384A>T (p.Ile462Phe) c.730A>T (p.Ile244Phe) c.685A>T (p.Ile229Phe) c.670A>T (p.Ile224Phe) c.484A>T (p.Ile162Phe) n.598A>T | |
| 5 | g.143300557T>C | CA361869962 | NR3C1 | c.1675A>G (p.Ile559Val) c.1582A>G (p.Ile528Val) c.1678A>G (p.Ile560Val) c.1597A>G (p.Ile533Val) c.1420A>G (p.Ile474Val) c.1408A>G (p.Ile470Val) c.1384A>G (p.Ile462Val) c.730A>G (p.Ile244Val) c.685A>G (p.Ile229Val) c.670A>G (p.Ile224Val) c.484A>G (p.Ile162Val) n.598A>G | |
| 5 | g.143300557T>G | CA361869963 | NR3C1 | c.1675A>C (p.Ile559Leu) c.1582A>C (p.Ile528Leu) c.1678A>C (p.Ile560Leu) c.1597A>C (p.Ile533Leu) c.1420A>C (p.Ile474Leu) c.1408A>C (p.Ile470Leu) c.1384A>C (p.Ile462Leu) c.730A>C (p.Ile244Leu) c.685A>C (p.Ile229Leu) c.670A>C (p.Ile224Leu) c.484A>C (p.Ile162Leu) n.598A>C | |
| 5 | g.143300558C>A | CA361869965 | NR3C1 | c.1674G>T (p.Arg558Ser) c.1581G>T (p.Arg527Ser) c.1677G>T (p.Arg559Ser) c.1596G>T (p.Arg532Ser) c.1419G>T (p.Arg473Ser) c.1407G>T (p.Arg469Ser) c.1383G>T (p.Arg461Ser) c.729G>T (p.Arg243Ser) c.684G>T (p.Arg228Ser) c.669G>T (p.Arg223Ser) c.483G>T (p.Arg161Ser) n.597G>T | |
| 5 | g.143300558C>G | CA361869966 | NR3C1 | c.1674G>C (p.Arg558Ser) c.1581G>C (p.Arg527Ser) c.1677G>C (p.Arg559Ser) c.1596G>C (p.Arg532Ser) c.1419G>C (p.Arg473Ser) c.1407G>C (p.Arg469Ser) c.1383G>C (p.Arg461Ser) c.729G>C (p.Arg243Ser) c.684G>C (p.Arg228Ser) c.669G>C (p.Arg223Ser) c.483G>C (p.Arg161Ser) n.597G>C | |
| 5 | g.143300558C>T | CA129254193 | NR3C1 | c.1674G>A (p.Arg558=) c.1581G>A (p.Arg527=) c.1677G>A (p.Arg559=) c.1596G>A (p.Arg532=) c.1419G>A (p.Arg473=) c.1407G>A (p.Arg469=) c.1383G>A (p.Arg461=) c.729G>A (p.Arg243=) c.684G>A (p.Arg228=) c.669G>A (p.Arg223=) c.483G>A (p.Arg161=) n.597G>A | dbSNP gnomAD v4 |
| 5 | g.143300559C>A | CA361869967 | NR3C1 | c.1673G>T (p.Arg558Met) c.1580G>T (p.Arg527Met) c.1676G>T (p.Arg559Met) c.1595G>T (p.Arg532Met) c.1418G>T (p.Arg473Met) c.1406G>T (p.Arg469Met) c.1382G>T (p.Arg461Met) c.728G>T (p.Arg243Met) c.683G>T (p.Arg228Met) c.668G>T (p.Arg223Met) c.482G>T (p.Arg161Met) n.596G>T | |
| 5 | g.143300559C>G | CA361869968 | NR3C1 | c.1673G>C (p.Arg558Thr) c.1580G>C (p.Arg527Thr) c.1676G>C (p.Arg559Thr) c.1595G>C (p.Arg532Thr) c.1418G>C (p.Arg473Thr) c.1406G>C (p.Arg469Thr) c.1382G>C (p.Arg461Thr) c.728G>C (p.Arg243Thr) c.683G>C (p.Arg228Thr) c.668G>C (p.Arg223Thr) c.482G>C (p.Arg161Thr) n.596G>C | |
| 5 | g.143300559C>T | CA361869969 | NR3C1 | c.1673G>A (p.Arg558Lys) c.1580G>A (p.Arg527Lys) c.1676G>A (p.Arg559Lys) c.1595G>A (p.Arg532Lys) c.1418G>A (p.Arg473Lys) c.1406G>A (p.Arg469Lys) c.1382G>A (p.Arg461Lys) c.728G>A (p.Arg243Lys) c.683G>A (p.Arg228Lys) c.668G>A (p.Arg223Lys) c.482G>A (p.Arg161Lys) n.596G>A | |
| 5 | g.143300560T>A | CA361869970 | NR3C1 | c.1672A>T (p.Arg558Trp) c.1579A>T (p.Arg527Trp) c.1675A>T (p.Arg559Trp) c.1594A>T (p.Arg532Trp) c.1417A>T (p.Arg473Trp) c.1405A>T (p.Arg469Trp) c.1381A>T (p.Arg461Trp) c.727A>T (p.Arg243Trp) c.682A>T (p.Arg228Trp) c.667A>T (p.Arg223Trp) c.481A>T (p.Arg161Trp) n.595A>T | |
| 5 | g.143300560T>C | CA361869971 | NR3C1 | c.1672A>G (p.Arg558Gly) c.1579A>G (p.Arg527Gly) c.1675A>G (p.Arg559Gly) c.1594A>G (p.Arg532Gly) c.1417A>G (p.Arg473Gly) c.1405A>G (p.Arg469Gly) c.1381A>G (p.Arg461Gly) c.727A>G (p.Arg243Gly) c.682A>G (p.Arg228Gly) c.667A>G (p.Arg223Gly) c.481A>G (p.Arg161Gly) n.595A>G | |
| 5 | g.143300560T>G | CA446962219 | NR3C1 | c.1672A>C (p.Arg558=) c.1579A>C (p.Arg527=) c.1675A>C (p.Arg559=) c.1594A>C (p.Arg532=) c.1417A>C (p.Arg473=) c.1405A>C (p.Arg469=) c.1381A>C (p.Arg461=) c.727A>C (p.Arg243=) c.682A>C (p.Arg228=) c.667A>C (p.Arg223=) c.481A>C (p.Arg161=) n.595A>C | |
| 5 | g.143300561C>A | CA361869972 | NR3C1 | c.1671G>T (p.Trp557Cys) c.1578G>T (p.Trp526Cys) c.1674G>T (p.Trp558Cys) c.1593G>T (p.Trp531Cys) n.611G>T c.1416G>T (p.Trp472Cys) c.1404G>T (p.Trp468Cys) c.1380G>T (p.Trp460Cys) c.726G>T (p.Trp242Cys) c.681G>T (p.Trp227Cys) c.666G>T (p.Trp222Cys) c.480G>T (p.Trp160Cys) n.594G>T | |
| 5 | g.143300561C>G | CA361869973 | NR3C1 | c.1671G>C (p.Trp557Cys) c.1578G>C (p.Trp526Cys) c.1674G>C (p.Trp558Cys) c.1593G>C (p.Trp531Cys) n.611G>C c.1416G>C (p.Trp472Cys) c.1404G>C (p.Trp468Cys) c.1380G>C (p.Trp460Cys) c.726G>C (p.Trp242Cys) c.681G>C (p.Trp227Cys) c.666G>C (p.Trp222Cys) c.480G>C (p.Trp160Cys) n.594G>C | |
| 5 | g.143300561C>T | CA361869974 | NR3C1 | c.1671G>A (p.Trp557Ter) c.1578G>A (p.Trp526Ter) c.1674G>A (p.Trp558Ter) c.1593G>A (p.Trp531Ter) n.611G>A c.1416G>A (p.Trp472Ter) c.1404G>A (p.Trp468Ter) c.1380G>A (p.Trp460Ter) c.726G>A (p.Trp242Ter) c.681G>A (p.Trp227Ter) c.666G>A (p.Trp222Ter) c.480G>A (p.Trp160Ter) n.594G>A | |
| 5 | g.143300562C>A | CA361869977 | NR3C1 | c.1670G>T (p.Trp557Leu) c.1577G>T (p.Trp526Leu) c.1673G>T (p.Trp558Leu) c.1592G>T (p.Trp531Leu) n.610G>T c.1415G>T (p.Trp472Leu) c.1403G>T (p.Trp468Leu) c.1379G>T (p.Trp460Leu) c.725G>T (p.Trp242Leu) c.680G>T (p.Trp227Leu) c.665G>T (p.Trp222Leu) c.479G>T (p.Trp160Leu) n.593G>T | |
| 5 | g.143300562C>G | CA361869975 | NR3C1 | c.1670G>C (p.Trp557Ser) c.1577G>C (p.Trp526Ser) c.1673G>C (p.Trp558Ser) c.1592G>C (p.Trp531Ser) n.610G>C c.1415G>C (p.Trp472Ser) c.1403G>C (p.Trp468Ser) c.1379G>C (p.Trp460Ser) c.725G>C (p.Trp242Ser) c.680G>C (p.Trp227Ser) c.665G>C (p.Trp222Ser) c.479G>C (p.Trp160Ser) n.593G>C | |
| 5 | g.143300562C>T | CA361869976 | NR3C1 | c.1670G>A (p.Trp557Ter) c.1577G>A (p.Trp526Ter) c.1673G>A (p.Trp558Ter) c.1592G>A (p.Trp531Ter) n.610G>A c.1415G>A (p.Trp472Ter) c.1403G>A (p.Trp468Ter) c.1379G>A (p.Trp460Ter) c.725G>A (p.Trp242Ter) c.680G>A (p.Trp227Ter) c.665G>A (p.Trp222Ter) c.479G>A (p.Trp160Ter) n.593G>A | |
| 5 | g.143300563A>C | CA361869978 | NR3C1 | c.1669T>G (p.Trp557Gly) c.1576T>G (p.Trp526Gly) c.1672T>G (p.Trp558Gly) c.1591T>G (p.Trp531Gly) n.609T>G c.1414T>G (p.Trp472Gly) c.1402T>G (p.Trp468Gly) c.1378T>G (p.Trp460Gly) c.724T>G (p.Trp242Gly) c.679T>G (p.Trp227Gly) c.664T>G (p.Trp222Gly) c.478T>G (p.Trp160Gly) n.592T>G | gnomAD v4 |
| 5 | g.143300563A>G | CA361869979 | NR3C1 | c.1669T>C (p.Trp557Arg) c.1576T>C (p.Trp526Arg) c.1672T>C (p.Trp558Arg) c.1591T>C (p.Trp531Arg) n.609T>C c.1414T>C (p.Trp472Arg) c.1402T>C (p.Trp468Arg) c.1378T>C (p.Trp460Arg) c.724T>C (p.Trp242Arg) c.679T>C (p.Trp227Arg) c.664T>C (p.Trp222Arg) c.478T>C (p.Trp160Arg) n.592T>C | |
| 5 | g.143300563A>T | CA361869980 | NR3C1 | c.1669T>A (p.Trp557Arg) c.1576T>A (p.Trp526Arg) c.1672T>A (p.Trp558Arg) c.1591T>A (p.Trp531Arg) n.609T>A c.1414T>A (p.Trp472Arg) c.1402T>A (p.Trp468Arg) c.1378T>A (p.Trp460Arg) c.724T>A (p.Trp242Arg) c.679T>A (p.Trp227Arg) c.664T>A (p.Trp222Arg) c.478T>A (p.Trp160Arg) n.592T>A | |
| 5 | g.143300564A>C | CA446962220 | NR3C1 | c.1668T>G (p.Thr556=) c.1575T>G (p.Thr525=) c.1671T>G (p.Thr557=) c.1590T>G (p.Thr530=) n.608T>G c.1413T>G (p.Thr471=) c.1401T>G (p.Thr467=) c.1377T>G (p.Thr459=) c.723T>G (p.Thr241=) c.678T>G (p.Thr226=) c.663T>G (p.Thr221=) c.477T>G (p.Thr159=) n.591T>G | |
| 5 | g.143300564A>G | CA446962221 | NR3C1 | c.1668T>C (p.Thr556=) c.1575T>C (p.Thr525=) c.1671T>C (p.Thr557=) c.1590T>C (p.Thr530=) n.608T>C c.1413T>C (p.Thr471=) c.1401T>C (p.Thr467=) c.1377T>C (p.Thr459=) c.723T>C (p.Thr241=) c.678T>C (p.Thr226=) c.663T>C (p.Thr221=) c.477T>C (p.Thr159=) n.591T>C | |
| 5 | g.143300564A>T | CA446962222 | NR3C1 | c.1668T>A (p.Thr556=) c.1575T>A (p.Thr525=) c.1671T>A (p.Thr557=) c.1590T>A (p.Thr530=) n.608T>A c.1413T>A (p.Thr471=) c.1401T>A (p.Thr467=) c.1377T>A (p.Thr459=) c.723T>A (p.Thr241=) c.678T>A (p.Thr226=) c.663T>A (p.Thr221=) c.477T>A (p.Thr159=) n.591T>A | dbSNP |
| 5 | g.143300565G>A | CA361869981 | NR3C1 | c.1667C>T (p.Thr556Ile) c.1574C>T (p.Thr525Ile) c.1670C>T (p.Thr557Ile) c.1589C>T (p.Thr530Ile) n.607C>T c.1412C>T (p.Thr471Ile) c.1400C>T (p.Thr467Ile) c.1376C>T (p.Thr459Ile) c.722C>T (p.Thr241Ile) c.677C>T (p.Thr226Ile) c.662C>T (p.Thr221Ile) c.476C>T (p.Thr159Ile) n.590C>T | |
| 5 | g.143300565G>C | CA361869982 | NR3C1 | c.1667C>G (p.Thr556Ser) c.1574C>G (p.Thr525Ser) c.1670C>G (p.Thr557Ser) c.1589C>G (p.Thr530Ser) n.607C>G c.1412C>G (p.Thr471Ser) c.1400C>G (p.Thr467Ser) c.1376C>G (p.Thr459Ser) c.722C>G (p.Thr241Ser) c.677C>G (p.Thr226Ser) c.662C>G (p.Thr221Ser) c.476C>G (p.Thr159Ser) n.590C>G | |
| 5 | g.143300565G>T | CA361869983 | NR3C1 | c.1667C>A (p.Thr556Asn) c.1574C>A (p.Thr525Asn) c.1670C>A (p.Thr557Asn) c.1589C>A (p.Thr530Asn) n.607C>A c.1412C>A (p.Thr471Asn) c.1400C>A (p.Thr467Asn) c.1376C>A (p.Thr459Asn) c.722C>A (p.Thr241Asn) c.677C>A (p.Thr226Asn) c.662C>A (p.Thr221Asn) c.476C>A (p.Thr159Asn) n.590C>A | |
| 5 | g.143300566T>A | CA361869984 | NR3C1 | c.1666A>T (p.Thr556Ser) c.1573A>T (p.Thr525Ser) c.1669A>T (p.Thr557Ser) c.1588A>T (p.Thr530Ser) n.606A>T c.1411A>T (p.Thr471Ser) c.1399A>T (p.Thr467Ser) c.1375A>T (p.Thr459Ser) c.721A>T (p.Thr241Ser) c.676A>T (p.Thr226Ser) c.661A>T (p.Thr221Ser) c.475A>T (p.Thr159Ser) n.589A>T | |
| 5 | g.143300566T>C | CA129254194 | NR3C1 | c.1666A>G (p.Thr556Ala) c.1573A>G (p.Thr525Ala) c.1669A>G (p.Thr557Ala) c.1588A>G (p.Thr530Ala) n.606A>G c.1411A>G (p.Thr471Ala) c.1399A>G (p.Thr467Ala) c.1375A>G (p.Thr459Ala) c.721A>G (p.Thr241Ala) c.676A>G (p.Thr226Ala) c.661A>G (p.Thr221Ala) c.475A>G (p.Thr159Ala) n.589A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.143300566T>G | CA361869985 | NR3C1 | c.1666A>C (p.Thr556Pro) c.1573A>C (p.Thr525Pro) c.1669A>C (p.Thr557Pro) c.1588A>C (p.Thr530Pro) n.606A>C c.1411A>C (p.Thr471Pro) c.1399A>C (p.Thr467Pro) c.1375A>C (p.Thr459Pro) c.721A>C (p.Thr241Pro) c.676A>C (p.Thr226Pro) c.661A>C (p.Thr221Pro) c.475A>C (p.Thr159Pro) n.589A>C | |
| 5 | g.143300567T>A | CA446962223 | NR3C1 | c.1665A>T (p.Ser555=) c.1572A>T (p.Ser524=) c.1668A>T (p.Ser556=) c.1587A>T (p.Ser529=) n.605A>T c.1410A>T (p.Ser470=) c.1398A>T (p.Ser466=) c.1374A>T (p.Ser458=) c.720A>T (p.Ser240=) c.675A>T (p.Ser225=) c.660A>T (p.Ser220=) c.474A>T (p.Ser158=) n.588A>T | |
| 5 | g.143300567T>C | CA446962224 | NR3C1 | c.1665A>G (p.Ser555=) c.1572A>G (p.Ser524=) c.1668A>G (p.Ser556=) c.1587A>G (p.Ser529=) n.605A>G c.1410A>G (p.Ser470=) c.1398A>G (p.Ser466=) c.1374A>G (p.Ser458=) c.720A>G (p.Ser240=) c.675A>G (p.Ser225=) c.660A>G (p.Ser220=) c.474A>G (p.Ser158=) n.588A>G | gnomAD v4 |
| 5 | g.143300567T>G | CA446962225 | NR3C1 | c.1665A>C (p.Ser555=) c.1572A>C (p.Ser524=) c.1668A>C (p.Ser556=) c.1587A>C (p.Ser529=) n.605A>C c.1410A>C (p.Ser470=) c.1398A>C (p.Ser466=) c.1374A>C (p.Ser458=) c.720A>C (p.Ser240=) c.675A>C (p.Ser225=) c.660A>C (p.Ser220=) c.474A>C (p.Ser158=) n.588A>C | |
| 5 | g.143300568G>A | CA361869986 | NR3C1 | c.1664C>T (p.Ser555Leu) c.1571C>T (p.Ser524Leu) c.1667C>T (p.Ser556Leu) c.1586C>T (p.Ser529Leu) n.604C>T c.1409C>T (p.Ser470Leu) c.1397C>T (p.Ser466Leu) c.1373C>T (p.Ser458Leu) c.719C>T (p.Ser240Leu) c.674C>T (p.Ser225Leu) c.659C>T (p.Ser220Leu) c.473C>T (p.Ser158Leu) n.587C>T | |
| 5 | g.143300568G>C | CA361869987 | NR3C1 | c.1664C>G (p.Ser555Ter) c.1571C>G (p.Ser524Ter) c.1667C>G (p.Ser556Ter) c.1586C>G (p.Ser529Ter) n.604C>G c.1409C>G (p.Ser470Ter) c.1397C>G (p.Ser466Ter) c.1373C>G (p.Ser458Ter) c.719C>G (p.Ser240Ter) c.674C>G (p.Ser225Ter) c.659C>G (p.Ser220Ter) c.473C>G (p.Ser158Ter) n.587C>G | |
| 5 | g.143300568G>T | CA361869988 | NR3C1 | c.1664C>A (p.Ser555Ter) c.1571C>A (p.Ser524Ter) c.1667C>A (p.Ser556Ter) c.1586C>A (p.Ser529Ter) n.604C>A c.1409C>A (p.Ser470Ter) c.1397C>A (p.Ser466Ter) c.1373C>A (p.Ser458Ter) c.719C>A (p.Ser240Ter) c.674C>A (p.Ser225Ter) c.659C>A (p.Ser220Ter) c.473C>A (p.Ser158Ter) n.587C>A | |
| 5 | g.143300569A>C | CA361869990 | NR3C1 | c.1663T>G (p.Ser555Ala) c.1570T>G (p.Ser524Ala) c.1666T>G (p.Ser556Ala) c.1585T>G (p.Ser529Ala) n.603T>G c.1408T>G (p.Ser470Ala) c.1396T>G (p.Ser466Ala) c.1372T>G (p.Ser458Ala) c.718T>G (p.Ser240Ala) c.673T>G (p.Ser225Ala) c.658T>G (p.Ser220Ala) c.472T>G (p.Ser158Ala) n.586T>G | |
| 5 | g.143300569A>G | CA361869991 | NR3C1 | c.1663T>C (p.Ser555Pro) c.1570T>C (p.Ser524Pro) c.1666T>C (p.Ser556Pro) c.1585T>C (p.Ser529Pro) n.603T>C c.1408T>C (p.Ser470Pro) c.1396T>C (p.Ser466Pro) c.1372T>C (p.Ser458Pro) c.718T>C (p.Ser240Pro) c.673T>C (p.Ser225Pro) c.658T>C (p.Ser220Pro) c.472T>C (p.Ser158Pro) n.586T>C | |
| 5 | g.143300569A>T | CA361869989 | NR3C1 | c.1663T>A (p.Ser555Thr) c.1570T>A (p.Ser524Thr) c.1666T>A (p.Ser556Thr) c.1585T>A (p.Ser529Thr) n.603T>A c.1408T>A (p.Ser470Thr) c.1396T>A (p.Ser466Thr) c.1372T>A (p.Ser458Thr) c.718T>A (p.Ser240Thr) c.673T>A (p.Ser225Thr) c.658T>A (p.Ser220Thr) c.472T>A (p.Ser158Thr) n.586T>A | |
| 5 | g.143300570G>A | CA446962226 | NR3C1 | c.1662C>T (p.Asp554=) c.1569C>T (p.Asp523=) c.1665C>T (p.Asp555=) c.1584C>T (p.Asp528=) n.602C>T c.1407C>T (p.Asp469=) c.1395C>T (p.Asp465=) c.1371C>T (p.Asp457=) c.717C>T (p.Asp239=) c.672C>T (p.Asp224=) c.657C>T (p.Asp219=) c.471C>T (p.Asp157=) n.585C>T | dbSNP |
| 5 | g.143300570G>C | CA361869992 | NR3C1 | c.1662C>G (p.Asp554Glu) c.1569C>G (p.Asp523Glu) c.1665C>G (p.Asp555Glu) c.1584C>G (p.Asp528Glu) n.602C>G c.1407C>G (p.Asp469Glu) c.1395C>G (p.Asp465Glu) c.1371C>G (p.Asp457Glu) c.717C>G (p.Asp239Glu) c.672C>G (p.Asp224Glu) c.657C>G (p.Asp219Glu) c.471C>G (p.Asp157Glu) n.585C>G | |
| 5 | g.143300570G>T | CA361869993 | NR3C1 | c.1662C>A (p.Asp554Glu) c.1569C>A (p.Asp523Glu) c.1665C>A (p.Asp555Glu) c.1584C>A (p.Asp528Glu) n.602C>A c.1407C>A (p.Asp469Glu) c.1395C>A (p.Asp465Glu) c.1371C>A (p.Asp457Glu) c.717C>A (p.Asp239Glu) c.672C>A (p.Asp224Glu) c.657C>A (p.Asp219Glu) c.471C>A (p.Asp157Glu) n.585C>A | |
| 5 | g.143300571T>A | CA361869994 | NR3C1 | c.1661A>T (p.Asp554Val) c.1568A>T (p.Asp523Val) c.1664A>T (p.Asp555Val) c.1583A>T (p.Asp528Val) n.601A>T c.1406A>T (p.Asp469Val) c.1394A>T (p.Asp465Val) c.1370A>T (p.Asp457Val) c.716A>T (p.Asp239Val) c.671A>T (p.Asp224Val) c.656A>T (p.Asp219Val) c.470A>T (p.Asp157Val) n.584A>T | |
| 5 | g.143300571T>C | CA361869995 | NR3C1 | c.1661A>G (p.Asp554Gly) c.1568A>G (p.Asp523Gly) c.1664A>G (p.Asp555Gly) c.1583A>G (p.Asp528Gly) n.601A>G c.1406A>G (p.Asp469Gly) c.1394A>G (p.Asp465Gly) c.1370A>G (p.Asp457Gly) c.716A>G (p.Asp239Gly) c.671A>G (p.Asp224Gly) c.656A>G (p.Asp219Gly) c.470A>G (p.Asp157Gly) n.584A>G | gnomAD v4 |
| 5 | g.143300571T>G | CA361869996 | NR3C1 | c.1661A>C (p.Asp554Ala) c.1568A>C (p.Asp523Ala) c.1664A>C (p.Asp555Ala) c.1583A>C (p.Asp528Ala) n.601A>C c.1406A>C (p.Asp469Ala) c.1394A>C (p.Asp465Ala) c.1370A>C (p.Asp457Ala) c.716A>C (p.Asp239Ala) c.671A>C (p.Asp224Ala) c.656A>C (p.Asp219Ala) c.470A>C (p.Asp157Ala) n.584A>C | |
| 5 | g.143300572C>A | CA361869997 | NR3C1 | c.1660G>T (p.Asp554Tyr) c.1567G>T (p.Asp523Tyr) c.1663G>T (p.Asp555Tyr) c.1582G>T (p.Asp528Tyr) n.600G>T c.1405G>T (p.Asp469Tyr) c.1393G>T (p.Asp465Tyr) c.1369G>T (p.Asp457Tyr) c.715G>T (p.Asp239Tyr) c.670G>T (p.Asp224Tyr) c.655G>T (p.Asp219Tyr) c.469G>T (p.Asp157Tyr) n.583G>T | |
| 5 | g.143300572C>G | CA361869998 | NR3C1 | c.1660G>C (p.Asp554His) c.1567G>C (p.Asp523His) c.1663G>C (p.Asp555His) c.1582G>C (p.Asp528His) n.600G>C c.1405G>C (p.Asp469His) c.1393G>C (p.Asp465His) c.1369G>C (p.Asp457His) c.715G>C (p.Asp239His) c.670G>C (p.Asp224His) c.655G>C (p.Asp219His) c.469G>C (p.Asp157His) n.583G>C |