UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143300483A>C | CA361869796 | NR3C1 | c.1747+2T>G (n.1747+2T>G) c.1654+2T>G (n.1654+2T>G) c.1750+2T>G (n.1750+2T>G) c.1669+2T>G (n.1669+2T>G) c.1492+2T>G (n.1492+2T>G) c.1480+2T>G (n.1480+2T>G) c.1456+2T>G (n.1456+2T>G) c.802+2T>G (n.802+2T>G) c.757+2T>G (n.757+2T>G) c.742+2T>G (n.742+2T>G) c.556+2T>G (n.556+2T>G) n.670+2T>G | |
| 5 | g.143300483A>G | CA361869798 | NR3C1 | c.1747+2T>C (n.1747+2T>C) c.1654+2T>C (n.1654+2T>C) c.1750+2T>C (n.1750+2T>C) c.1669+2T>C (n.1669+2T>C) c.1492+2T>C (n.1492+2T>C) c.1480+2T>C (n.1480+2T>C) c.1456+2T>C (n.1456+2T>C) c.802+2T>C (n.802+2T>C) c.757+2T>C (n.757+2T>C) c.742+2T>C (n.742+2T>C) c.556+2T>C (n.556+2T>C) n.670+2T>C | |
| 5 | g.143300483A>T | CA361869797 | NR3C1 | c.1747+2T>A (n.1747+2T>A) c.1654+2T>A (n.1654+2T>A) c.1750+2T>A (n.1750+2T>A) c.1669+2T>A (n.1669+2T>A) c.1492+2T>A (n.1492+2T>A) c.1480+2T>A (n.1480+2T>A) c.1456+2T>A (n.1456+2T>A) c.802+2T>A (n.802+2T>A) c.757+2T>A (n.757+2T>A) c.742+2T>A (n.742+2T>A) c.556+2T>A (n.556+2T>A) n.670+2T>A | |
| 5 | g.143300484C>A | CA361869799 | NR3C1 | c.1747+1G>T (n.1747+1G>T) c.1654+1G>T (n.1654+1G>T) c.1750+1G>T (n.1750+1G>T) c.1669+1G>T (n.1669+1G>T) c.1492+1G>T (n.1492+1G>T) c.1480+1G>T (n.1480+1G>T) c.1456+1G>T (n.1456+1G>T) c.802+1G>T (n.802+1G>T) c.757+1G>T (n.757+1G>T) c.742+1G>T (n.742+1G>T) c.556+1G>T (n.556+1G>T) n.670+1G>T | |
| 5 | g.143300484C>G | CA3486826 | NR3C1 | c.1747+1G>C (n.1747+1G>C) c.1654+1G>C (n.1654+1G>C) c.1750+1G>C (n.1750+1G>C) c.1669+1G>C (n.1669+1G>C) c.1492+1G>C (n.1492+1G>C) c.1480+1G>C (n.1480+1G>C) c.1456+1G>C (n.1456+1G>C) c.802+1G>C (n.802+1G>C) c.757+1G>C (n.757+1G>C) c.742+1G>C (n.742+1G>C) c.556+1G>C (n.556+1G>C) n.670+1G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.143300484C>T | CA361869800 | NR3C1 | c.1747+1G>A (n.1747+1G>A) c.1654+1G>A (n.1654+1G>A) c.1750+1G>A (n.1750+1G>A) c.1669+1G>A (n.1669+1G>A) c.1492+1G>A (n.1492+1G>A) c.1480+1G>A (n.1480+1G>A) c.1456+1G>A (n.1456+1G>A) c.802+1G>A (n.802+1G>A) c.757+1G>A (n.757+1G>A) c.742+1G>A (n.742+1G>A) c.556+1G>A (n.556+1G>A) n.670+1G>A | |
| 5 | g.143300485C>A | CA361869801 | NR3C1 | c.1747G>T (p.Gly583Cys) c.1654G>T (p.Gly552Cys) c.1750G>T (p.Gly584Cys) c.1669G>T (p.Gly557Cys) c.1492G>T (p.Gly498Cys) c.1480G>T (p.Gly494Cys) c.1456G>T (p.Gly486Cys) c.802G>T (p.Gly268Cys) c.757G>T (p.Gly253Cys) c.742G>T (p.Gly248Cys) c.556G>T (p.Gly186Cys) n.670G>T | |
| 5 | g.143300485C>G | CA361869802 | NR3C1 | c.1747G>C (p.Gly583Arg) c.1654G>C (p.Gly552Arg) c.1750G>C (p.Gly584Arg) c.1669G>C (p.Gly557Arg) c.1492G>C (p.Gly498Arg) c.1480G>C (p.Gly494Arg) c.1456G>C (p.Gly486Arg) c.802G>C (p.Gly268Arg) c.757G>C (p.Gly253Arg) c.742G>C (p.Gly248Arg) c.556G>C (p.Gly186Arg) n.670G>C | |
| 5 | g.143300485C>T | CA361869803 | NR3C1 | c.1747G>A (p.Gly583Ser) c.1654G>A (p.Gly552Ser) c.1750G>A (p.Gly584Ser) c.1669G>A (p.Gly557Ser) c.1492G>A (p.Gly498Ser) c.1480G>A (p.Gly494Ser) c.1456G>A (p.Gly486Ser) c.802G>A (p.Gly268Ser) c.757G>A (p.Gly253Ser) c.742G>A (p.Gly248Ser) c.556G>A (p.Gly186Ser) n.670G>A | |
| 5 | g.143300486T>A | CA446962172 | NR3C1 | c.1746A>T (p.Pro582=) c.1653A>T (p.Pro551=) c.1749A>T (p.Pro583=) c.1668A>T (p.Pro556=) c.1491A>T (p.Pro497=) c.1479A>T (p.Pro493=) c.1455A>T (p.Pro485=) c.801A>T (p.Pro267=) c.756A>T (p.Pro252=) c.741A>T (p.Pro247=) c.555A>T (p.Pro185=) n.669A>T | |
| 5 | g.143300486T>C | CA446962173 | NR3C1 | c.1746A>G (p.Pro582=) c.1653A>G (p.Pro551=) c.1749A>G (p.Pro583=) c.1668A>G (p.Pro556=) c.1491A>G (p.Pro497=) c.1479A>G (p.Pro493=) c.1455A>G (p.Pro485=) c.801A>G (p.Pro267=) c.756A>G (p.Pro252=) c.741A>G (p.Pro247=) c.555A>G (p.Pro185=) n.669A>G | |
| 5 | g.143300486T>G | CA446962171 | NR3C1 | c.1746A>C (p.Pro582=) c.1653A>C (p.Pro551=) c.1749A>C (p.Pro583=) c.1668A>C (p.Pro556=) c.1491A>C (p.Pro497=) c.1479A>C (p.Pro493=) c.1455A>C (p.Pro485=) c.801A>C (p.Pro267=) c.756A>C (p.Pro252=) c.741A>C (p.Pro247=) c.555A>C (p.Pro185=) n.669A>C | gnomAD v4 |
| 5 | g.143300487G>A | CA361869804 | NR3C1 | c.1745C>T (p.Pro582Leu) c.1652C>T (p.Pro551Leu) c.1748C>T (p.Pro583Leu) c.1667C>T (p.Pro556Leu) c.1490C>T (p.Pro497Leu) c.1478C>T (p.Pro493Leu) c.1454C>T (p.Pro485Leu) c.800C>T (p.Pro267Leu) c.755C>T (p.Pro252Leu) c.740C>T (p.Pro247Leu) c.554C>T (p.Pro185Leu) n.668C>T | |
| 5 | g.143300487G>C | CA361869805 | NR3C1 | c.1745C>G (p.Pro582Arg) c.1652C>G (p.Pro551Arg) c.1748C>G (p.Pro583Arg) c.1667C>G (p.Pro556Arg) c.1490C>G (p.Pro497Arg) c.1478C>G (p.Pro493Arg) c.1454C>G (p.Pro485Arg) c.800C>G (p.Pro267Arg) c.755C>G (p.Pro252Arg) c.740C>G (p.Pro247Arg) c.554C>G (p.Pro185Arg) n.668C>G | |
| 5 | g.143300487G>T | CA361869806 | NR3C1 | c.1745C>A (p.Pro582Gln) c.1652C>A (p.Pro551Gln) c.1748C>A (p.Pro583Gln) c.1667C>A (p.Pro556Gln) c.1490C>A (p.Pro497Gln) c.1478C>A (p.Pro493Gln) c.1454C>A (p.Pro485Gln) c.800C>A (p.Pro267Gln) c.755C>A (p.Pro252Gln) c.740C>A (p.Pro247Gln) c.554C>A (p.Pro185Gln) n.668C>A | |
| 5 | g.143300488G>A | CA361869807 | NR3C1 | c.1744C>T (p.Pro582Ser) c.1651C>T (p.Pro551Ser) c.1747C>T (p.Pro583Ser) c.1666C>T (p.Pro556Ser) c.1489C>T (p.Pro497Ser) c.1477C>T (p.Pro493Ser) c.1453C>T (p.Pro485Ser) c.799C>T (p.Pro267Ser) c.754C>T (p.Pro252Ser) c.739C>T (p.Pro247Ser) c.553C>T (p.Pro185Ser) n.667C>T | gnomAD v4 |
| 5 | g.143300488G>C | CA361869808 | NR3C1 | c.1744C>G (p.Pro582Ala) c.1651C>G (p.Pro551Ala) c.1747C>G (p.Pro583Ala) c.1666C>G (p.Pro556Ala) c.1489C>G (p.Pro497Ala) c.1477C>G (p.Pro493Ala) c.1453C>G (p.Pro485Ala) c.799C>G (p.Pro267Ala) c.754C>G (p.Pro252Ala) c.739C>G (p.Pro247Ala) c.553C>G (p.Pro185Ala) n.667C>G | |
| 5 | g.143300488G>T | CA361869809 | NR3C1 | c.1744C>A (p.Pro582Thr) c.1651C>A (p.Pro551Thr) c.1747C>A (p.Pro583Thr) c.1666C>A (p.Pro556Thr) c.1489C>A (p.Pro497Thr) c.1477C>A (p.Pro493Thr) c.1453C>A (p.Pro485Thr) c.799C>A (p.Pro267Thr) c.754C>A (p.Pro252Thr) c.739C>A (p.Pro247Thr) c.553C>A (p.Pro185Thr) n.667C>A | |
| 5 | g.143300489T>A | CA446962175 | NR3C1 | c.1743A>T (p.Ile581=) c.1650A>T (p.Ile550=) c.1746A>T (p.Ile582=) c.1665A>T (p.Ile555=) c.1488A>T (p.Ile496=) c.1476A>T (p.Ile492=) c.1452A>T (p.Ile484=) c.798A>T (p.Ile266=) c.753A>T (p.Ile251=) c.738A>T (p.Ile246=) c.552A>T (p.Ile184=) n.666A>T | COSMIC COSMIC |
| 5 | g.143300489T>C | CA361869810 | NR3C1 | c.1743A>G (p.Ile581Met) c.1650A>G (p.Ile550Met) c.1746A>G (p.Ile582Met) c.1665A>G (p.Ile555Met) c.1488A>G (p.Ile496Met) c.1476A>G (p.Ile492Met) c.1452A>G (p.Ile484Met) c.798A>G (p.Ile266Met) c.753A>G (p.Ile251Met) c.738A>G (p.Ile246Met) c.552A>G (p.Ile184Met) n.666A>G | |
| 5 | g.143300489T>G | CA446962174 | NR3C1 | c.1743A>C (p.Ile581=) c.1650A>C (p.Ile550=) c.1746A>C (p.Ile582=) c.1665A>C (p.Ile555=) c.1488A>C (p.Ile496=) c.1476A>C (p.Ile492=) c.1452A>C (p.Ile484=) c.798A>C (p.Ile266=) c.753A>C (p.Ile251=) c.738A>C (p.Ile246=) c.552A>C (p.Ile184=) n.666A>C | |
| 5 | g.143300490A>C | CA361869813 | NR3C1 | c.1742T>G (p.Ile581Arg) c.1649T>G (p.Ile550Arg) c.1745T>G (p.Ile582Arg) c.1664T>G (p.Ile555Arg) c.1487T>G (p.Ile496Arg) c.1475T>G (p.Ile492Arg) c.1451T>G (p.Ile484Arg) c.797T>G (p.Ile266Arg) c.752T>G (p.Ile251Arg) c.737T>G (p.Ile246Arg) c.551T>G (p.Ile184Arg) n.665T>G | |
| 5 | g.143300490A>G | CA361869811 | NR3C1 | c.1742T>C (p.Ile581Thr) c.1649T>C (p.Ile550Thr) c.1745T>C (p.Ile582Thr) c.1664T>C (p.Ile555Thr) c.1487T>C (p.Ile496Thr) c.1475T>C (p.Ile492Thr) c.1451T>C (p.Ile484Thr) c.797T>C (p.Ile266Thr) c.752T>C (p.Ile251Thr) c.737T>C (p.Ile246Thr) c.551T>C (p.Ile184Thr) n.665T>C | |
| 5 | g.143300490A>T | CA361869812 | NR3C1 | c.1742T>A (p.Ile581Lys) c.1649T>A (p.Ile550Lys) c.1745T>A (p.Ile582Lys) c.1664T>A (p.Ile555Lys) c.1487T>A (p.Ile496Lys) c.1475T>A (p.Ile492Lys) c.1451T>A (p.Ile484Lys) c.797T>A (p.Ile266Lys) c.752T>A (p.Ile251Lys) c.737T>A (p.Ile246Lys) c.551T>A (p.Ile184Lys) n.665T>A | |
| 5 | g.143300491T>A | CA361869814 | NR3C1 | c.1741A>T (p.Ile581Leu) c.1648A>T (p.Ile550Leu) c.1744A>T (p.Ile582Leu) c.1663A>T (p.Ile555Leu) c.1486A>T (p.Ile496Leu) c.1474A>T (p.Ile492Leu) c.1450A>T (p.Ile484Leu) c.796A>T (p.Ile266Leu) c.751A>T (p.Ile251Leu) c.736A>T (p.Ile246Leu) c.550A>T (p.Ile184Leu) n.664A>T | |
| 5 | g.143300491T>C | CA361869815 | NR3C1 | c.1741A>G (p.Ile581Val) c.1648A>G (p.Ile550Val) c.1744A>G (p.Ile582Val) c.1663A>G (p.Ile555Val) c.1486A>G (p.Ile496Val) c.1474A>G (p.Ile492Val) c.1450A>G (p.Ile484Val) c.796A>G (p.Ile266Val) c.751A>G (p.Ile251Val) c.736A>G (p.Ile246Val) c.550A>G (p.Ile184Val) n.664A>G | |
| 5 | g.143300491T>G | CA361869816 | NR3C1 | c.1741A>C (p.Ile581Leu) c.1648A>C (p.Ile550Leu) c.1744A>C (p.Ile582Leu) c.1663A>C (p.Ile555Leu) c.1486A>C (p.Ile496Leu) c.1474A>C (p.Ile492Leu) c.1450A>C (p.Ile484Leu) c.796A>C (p.Ile266Leu) c.751A>C (p.Ile251Leu) c.736A>C (p.Ile246Leu) c.550A>C (p.Ile184Leu) n.664A>C | |
| 5 | g.143300492T>A | CA446962176 | NR3C1 | c.1740A>T (p.Ala580=) c.1647A>T (p.Ala549=) c.1743A>T (p.Ala581=) c.1662A>T (p.Ala554=) c.1485A>T (p.Ala495=) c.1473A>T (p.Ala491=) c.1449A>T (p.Ala483=) c.795A>T (p.Ala265=) c.750A>T (p.Ala250=) c.735A>T (p.Ala245=) c.549A>T (p.Ala183=) n.663A>T | |
| 5 | g.143300492T>C | CA446962178 | NR3C1 | c.1740A>G (p.Ala580=) c.1647A>G (p.Ala549=) c.1743A>G (p.Ala581=) c.1662A>G (p.Ala554=) c.1485A>G (p.Ala495=) c.1473A>G (p.Ala491=) c.1449A>G (p.Ala483=) c.795A>G (p.Ala265=) c.750A>G (p.Ala250=) c.735A>G (p.Ala245=) c.549A>G (p.Ala183=) n.663A>G | |
| 5 | g.143300492T>G | CA446962177 | NR3C1 | c.1740A>C (p.Ala580=) c.1647A>C (p.Ala549=) c.1743A>C (p.Ala581=) c.1662A>C (p.Ala554=) c.1485A>C (p.Ala495=) c.1473A>C (p.Ala491=) c.1449A>C (p.Ala483=) c.795A>C (p.Ala265=) c.750A>C (p.Ala250=) c.735A>C (p.Ala245=) c.549A>C (p.Ala183=) n.663A>C | |
| 5 | g.143300492_143300493insACAGGC | CA2545039829 | NR3C1 | c.1739_1740insGCCTGT (p.Ala580_Ile581insProVal) c.1646_1647insGCCTGT (p.Ala549_Ile550insProVal) c.1742_1743insGCCTGT (p.Ala581_Ile582insProVal) c.1661_1662insGCCTGT (p.Ala554_Ile555insProVal) c.1484_1485insGCCTGT (p.Ala495_Ile496insProVal) c.1472_1473insGCCTGT (p.Ala491_Ile492insProVal) c.1448_1449insGCCTGT (p.Ala483_Ile484insProVal) c.794_795insGCCTGT (p.Ala265_Ile266insProVal) c.749_750insGCCTGT (p.Ala250_Ile251insProVal) c.734_735insGCCTGT (p.Ala245_Ile246insProVal) c.548_549insGCCTGT (p.Ala183_Ile184insProVal) n.662_663insGCCTGT | |
| 5 | g.143300493G>A | CA361869817 | NR3C1 | c.1739C>T (p.Ala580Val) c.1646C>T (p.Ala549Val) c.1742C>T (p.Ala581Val) c.1661C>T (p.Ala554Val) c.1484C>T (p.Ala495Val) c.1472C>T (p.Ala491Val) c.1448C>T (p.Ala483Val) c.794C>T (p.Ala265Val) c.749C>T (p.Ala250Val) c.734C>T (p.Ala245Val) c.548C>T (p.Ala183Val) n.662C>T | COSMIC COSMIC |
| 5 | g.143300493G>C | CA361869818 | NR3C1 | c.1739C>G (p.Ala580Gly) c.1646C>G (p.Ala549Gly) c.1742C>G (p.Ala581Gly) c.1661C>G (p.Ala554Gly) c.1484C>G (p.Ala495Gly) c.1472C>G (p.Ala491Gly) c.1448C>G (p.Ala483Gly) c.794C>G (p.Ala265Gly) c.749C>G (p.Ala250Gly) c.734C>G (p.Ala245Gly) c.548C>G (p.Ala183Gly) n.662C>G | |
| 5 | g.143300493G>T | CA361869819 | NR3C1 | c.1739C>A (p.Ala580Glu) c.1646C>A (p.Ala549Glu) c.1742C>A (p.Ala581Glu) c.1661C>A (p.Ala554Glu) c.1484C>A (p.Ala495Glu) c.1472C>A (p.Ala491Glu) c.1448C>A (p.Ala483Glu) c.794C>A (p.Ala265Glu) c.749C>A (p.Ala250Glu) c.734C>A (p.Ala245Glu) c.548C>A (p.Ala183Glu) n.662C>A | |
| 5 | g.143300494C>A | CA361869820 | NR3C1 | c.1738G>T (p.Ala580Ser) c.1645G>T (p.Ala549Ser) c.1741G>T (p.Ala581Ser) c.1660G>T (p.Ala554Ser) c.1483G>T (p.Ala495Ser) c.1471G>T (p.Ala491Ser) c.1447G>T (p.Ala483Ser) c.793G>T (p.Ala265Ser) c.748G>T (p.Ala250Ser) c.733G>T (p.Ala245Ser) c.547G>T (p.Ala183Ser) n.661G>T | |
| 5 | g.143300494C>G | CA361869821 | NR3C1 | c.1738G>C (p.Ala580Pro) c.1645G>C (p.Ala549Pro) c.1741G>C (p.Ala581Pro) c.1660G>C (p.Ala554Pro) c.1483G>C (p.Ala495Pro) c.1471G>C (p.Ala491Pro) c.1447G>C (p.Ala483Pro) c.793G>C (p.Ala265Pro) c.748G>C (p.Ala250Pro) c.733G>C (p.Ala245Pro) c.547G>C (p.Ala183Pro) n.661G>C | |
| 5 | g.143300494C>T | CA361869822 | NR3C1 | c.1738G>A (p.Ala580Thr) c.1645G>A (p.Ala549Thr) c.1741G>A (p.Ala581Thr) c.1660G>A (p.Ala554Thr) c.1483G>A (p.Ala495Thr) c.1471G>A (p.Ala491Thr) c.1447G>A (p.Ala483Thr) c.793G>A (p.Ala265Thr) c.748G>A (p.Ala250Thr) c.733G>A (p.Ala245Thr) c.547G>A (p.Ala183Thr) n.661G>A | |
| 5 | g.143300495C>A | CA361869823 | NR3C1 | c.1737G>T (p.Lys579Asn) c.1644G>T (p.Lys548Asn) c.1740G>T (p.Lys580Asn) c.1659G>T (p.Lys553Asn) c.1482G>T (p.Lys494Asn) c.1470G>T (p.Lys490Asn) c.1446G>T (p.Lys482Asn) c.792G>T (p.Lys264Asn) c.747G>T (p.Lys249Asn) c.732G>T (p.Lys244Asn) c.546G>T (p.Lys182Asn) n.660G>T | |
| 5 | g.143300495C>G | CA361869824 | NR3C1 | c.1737G>C (p.Lys579Asn) c.1644G>C (p.Lys548Asn) c.1740G>C (p.Lys580Asn) c.1659G>C (p.Lys553Asn) c.1482G>C (p.Lys494Asn) c.1470G>C (p.Lys490Asn) c.1446G>C (p.Lys482Asn) c.792G>C (p.Lys264Asn) c.747G>C (p.Lys249Asn) c.732G>C (p.Lys244Asn) c.546G>C (p.Lys182Asn) n.660G>C | |
| 5 | g.143300495C>T | CA446962179 | NR3C1 | c.1737G>A (p.Lys579=) c.1644G>A (p.Lys548=) c.1740G>A (p.Lys580=) c.1659G>A (p.Lys553=) c.1482G>A (p.Lys494=) c.1470G>A (p.Lys490=) c.1446G>A (p.Lys482=) c.792G>A (p.Lys264=) c.747G>A (p.Lys249=) c.732G>A (p.Lys244=) c.546G>A (p.Lys182=) n.660G>A | gnomAD v4 |
| 5 | g.143300496T>A | CA361869827 | NR3C1 | c.1736A>T (p.Lys579Met) c.1643A>T (p.Lys548Met) c.1739A>T (p.Lys580Met) c.1658A>T (p.Lys553Met) c.1481A>T (p.Lys494Met) c.1469A>T (p.Lys490Met) c.1445A>T (p.Lys482Met) c.791A>T (p.Lys264Met) c.746A>T (p.Lys249Met) c.731A>T (p.Lys244Met) c.545A>T (p.Lys182Met) n.659A>T | |
| 5 | g.143300496T>C | CA361869825 | NR3C1 | c.1736A>G (p.Lys579Arg) c.1643A>G (p.Lys548Arg) c.1739A>G (p.Lys580Arg) c.1658A>G (p.Lys553Arg) c.1481A>G (p.Lys494Arg) c.1469A>G (p.Lys490Arg) c.1445A>G (p.Lys482Arg) c.791A>G (p.Lys264Arg) c.746A>G (p.Lys249Arg) c.731A>G (p.Lys244Arg) c.545A>G (p.Lys182Arg) n.659A>G | |
| 5 | g.143300496T>G | CA361869826 | NR3C1 | c.1736A>C (p.Lys579Thr) c.1643A>C (p.Lys548Thr) c.1739A>C (p.Lys580Thr) c.1658A>C (p.Lys553Thr) c.1481A>C (p.Lys494Thr) c.1469A>C (p.Lys490Thr) c.1445A>C (p.Lys482Thr) c.791A>C (p.Lys264Thr) c.746A>C (p.Lys249Thr) c.731A>C (p.Lys244Thr) c.545A>C (p.Lys182Thr) n.659A>C | |
| 5 | g.143300497_143300498del | CA2525626861 | NR3C1 | c.1735_1736del (p.Lys579GlyfsTer12) c.1642_1643del (p.Lys548GlyfsTer12) c.1738_1739del (p.Lys580GlyfsTer12) c.1657_1658del (p.Lys553GlyfsTer12) c.1480_1481del (p.Lys494GlyfsTer12) c.1468_1469del (p.Lys490GlyfsTer12) c.1444_1445del (p.Lys482GlyfsTer12) c.790_791del (p.Lys264GlyfsTer12) c.745_746del (p.Lys249GlyfsTer12) c.730_731del (p.Lys244GlyfsTer12) c.544_545del (p.Lys182GlyfsTer12) n.658_659del | |
| 5 | g.143300497T>A | CA361869828 | NR3C1 | c.1735A>T (p.Lys579Ter) c.1642A>T (p.Lys548Ter) c.1738A>T (p.Lys580Ter) c.1657A>T (p.Lys553Ter) c.1480A>T (p.Lys494Ter) c.1468A>T (p.Lys490Ter) c.1444A>T (p.Lys482Ter) c.790A>T (p.Lys264Ter) c.745A>T (p.Lys249Ter) c.730A>T (p.Lys244Ter) c.544A>T (p.Lys182Ter) n.658A>T | |
| 5 | g.143300497T>C | CA361869829 | NR3C1 | c.1735A>G (p.Lys579Glu) c.1642A>G (p.Lys548Glu) c.1738A>G (p.Lys580Glu) c.1657A>G (p.Lys553Glu) c.1480A>G (p.Lys494Glu) c.1468A>G (p.Lys490Glu) c.1444A>G (p.Lys482Glu) c.790A>G (p.Lys264Glu) c.745A>G (p.Lys249Glu) c.730A>G (p.Lys244Glu) c.544A>G (p.Lys182Glu) n.658A>G | |
| 5 | g.143300497T>G | CA361869830 | NR3C1 | c.1735A>C (p.Lys579Gln) c.1642A>C (p.Lys548Gln) c.1738A>C (p.Lys580Gln) c.1657A>C (p.Lys553Gln) c.1480A>C (p.Lys494Gln) c.1468A>C (p.Lys490Gln) c.1444A>C (p.Lys482Gln) c.790A>C (p.Lys264Gln) c.745A>C (p.Lys249Gln) c.730A>C (p.Lys244Gln) c.544A>C (p.Lys182Gln) n.658A>C | |
| 5 | g.143300497_143300498insCACCACCA | CA2564355537 | NR3C1 | c.1734_1735insTGGTGGTG (p.Lys579TrpfsTer3) c.1641_1642insTGGTGGTG (p.Lys548TrpfsTer3) c.1737_1738insTGGTGGTG (p.Lys580TrpfsTer3) c.1656_1657insTGGTGGTG (p.Lys553TrpfsTer3) c.1479_1480insTGGTGGTG (p.Lys494TrpfsTer3) c.1467_1468insTGGTGGTG (p.Lys490TrpfsTer3) c.1443_1444insTGGTGGTG (p.Lys482TrpfsTer3) c.789_790insTGGTGGTG (p.Lys264TrpfsTer3) c.744_745insTGGTGGTG (p.Lys249TrpfsTer3) c.729_730insTGGTGGTG (p.Lys244TrpfsTer3) c.543_544insTGGTGGTG (p.Lys182TrpfsTer3) n.657_658insTGGTGGTG | |
| 5 | g.143300498T>A | CA446962180 | NR3C1 | c.1734A>T (p.Ala578=) c.1641A>T (p.Ala547=) c.1737A>T (p.Ala579=) c.1656A>T (p.Ala552=) c.1479A>T (p.Ala493=) c.1467A>T (p.Ala489=) c.1443A>T (p.Ala481=) c.789A>T (p.Ala263=) c.744A>T (p.Ala248=) c.729A>T (p.Ala243=) c.543A>T (p.Ala181=) n.657A>T | |
| 5 | g.143300498T>C | CA446962181 | NR3C1 | c.1734A>G (p.Ala578=) c.1641A>G (p.Ala547=) c.1737A>G (p.Ala579=) c.1656A>G (p.Ala552=) c.1479A>G (p.Ala493=) c.1467A>G (p.Ala489=) c.1443A>G (p.Ala481=) c.789A>G (p.Ala263=) c.744A>G (p.Ala248=) c.729A>G (p.Ala243=) c.543A>G (p.Ala181=) n.657A>G |