| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143281897_143281912dup | CA804988170 | NR3C1 | c.2314_2329dup (p.Lys777ThrfsTer27) c.2221_2236dup (p.Lys746ThrfsTer27) c.2317_2332dup (p.Lys778ThrfsTer27) c.2181+659_2181+674dup (n.2181+659_2181+674dup) c.2236_2251dup (p.Lys751ThrfsTer27) c.2059_2074dup (p.Lys692ThrfsTer27) c.2047_2062dup (p.Lys688ThrfsTer27) c.2023_2038dup (p.Lys680ThrfsTer27) c.1369_1384dup (p.Lys462ThrfsTer27) c.1324_1339dup (p.Lys447ThrfsTer27) c.1309_1324dup (p.Lys442ThrfsTer27) c.1123_1138dup (p.Lys380ThrfsTer27) n.656-2802_656-2787dup n.1237_1252dup | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.143281904_143281905del | CA2573320286 | NR3C1 | c.2319_2320del (p.Phe774SerfsTer24) c.2226_2227del (p.Phe743SerfsTer24) c.2322_2323del (p.Phe775SerfsTer24) c.2181+664_2181+665del (n.2181+664_2181+665del) c.2241_2242del (p.Phe748SerfsTer24) c.2064_2065del (p.Phe689SerfsTer24) c.2052_2053del (p.Phe685SerfsTer24) c.2028_2029del (p.Phe677SerfsTer24) c.1374_1375del (p.Phe459SerfsTer24) c.1329_1330del (p.Phe444SerfsTer24) c.1314_1315del (p.Phe439SerfsTer24) c.1128_1129del (p.Phe377SerfsTer24) n.656-2795_656-2794del n.1242_1243del | |
| 5 | g.143281905A= | CA2581520106 | NR3C1 | c.2318T= (p.Leu773=) c.2225T= (p.Leu742=) c.2321T= (p.Leu774=) c.2181+663T= (n.2181+663T=) c.2240T= (p.Leu747=) c.2063T= (p.Leu688=) c.2051T= (p.Leu684=) c.2027T= (p.Leu676=) c.1373T= (p.Leu458=) c.1328T= (p.Leu443=) c.1313T= (p.Leu438=) c.1127T= (p.Leu376=) n.656-2794A= n.1241T= | |
| 5 | g.143281905A>C | CA361868417 | NR3C1 | c.2318T>G (p.Leu773Arg) c.2225T>G (p.Leu742Arg) c.2321T>G (p.Leu774Arg) c.2181+663T>G (n.2181+663T>G) c.2240T>G (p.Leu747Arg) c.2063T>G (p.Leu688Arg) c.2051T>G (p.Leu684Arg) c.2027T>G (p.Leu676Arg) c.1373T>G (p.Leu458Arg) c.1328T>G (p.Leu443Arg) c.1313T>G (p.Leu438Arg) c.1127T>G (p.Leu376Arg) n.656-2794A>C n.1241T>G | |
| 5 | g.143281905A>G | CA126234 | NR3C1 | c.2318T>C (p.Leu773Pro) c.2225T>C (p.Leu742Pro) c.2321T>C (p.Leu774Pro) c.2181+663T>C (n.2181+663T>C) c.2240T>C (p.Leu747Pro) c.2063T>C (p.Leu688Pro) c.2051T>C (p.Leu684Pro) c.2027T>C (p.Leu676Pro) c.1373T>C (p.Leu458Pro) c.1328T>C (p.Leu443Pro) c.1313T>C (p.Leu438Pro) c.1127T>C (p.Leu376Pro) n.656-2794A>G n.1241T>C | ClinVar dbSNP |
| 5 | g.143281905A>T | CA361868418 | NR3C1 | c.2318T>A (p.Leu773Gln) c.2225T>A (p.Leu742Gln) c.2321T>A (p.Leu774Gln) c.2181+663T>A (n.2181+663T>A) c.2240T>A (p.Leu747Gln) c.2063T>A (p.Leu688Gln) c.2051T>A (p.Leu684Gln) c.2027T>A (p.Leu676Gln) c.1373T>A (p.Leu458Gln) c.1328T>A (p.Leu443Gln) c.1313T>A (p.Leu438Gln) c.1127T>A (p.Leu376Gln) n.656-2794A>T n.1241T>A | |
| 5 | g.143281906_143281907del | CA2695205346 | NR3C1 | c.2317_2318del (p.Leu773ValfsTer25) c.2224_2225del (p.Leu742ValfsTer25) c.2320_2321del (p.Leu774ValfsTer25) c.2181+662_2181+663del (n.2181+662_2181+663del) c.2239_2240del (p.Leu747ValfsTer25) c.2062_2063del (p.Leu688ValfsTer25) c.2050_2051del (p.Leu684ValfsTer25) c.2026_2027del (p.Leu676ValfsTer25) c.1372_1373del (p.Leu458ValfsTer25) c.1327_1328del (p.Leu443ValfsTer25) c.1312_1313del (p.Leu438ValfsTer25) c.1126_1127del (p.Leu376ValfsTer25) n.656-2793_656-2792del n.1240_1241del | |
| 5 | g.143281906G>A | CA446961833 | NR3C1 | c.2317C>T (p.Leu773=) c.2224C>T (p.Leu742=) c.2320C>T (p.Leu774=) c.2181+662C>T (n.2181+662C>T) c.2239C>T (p.Leu747=) c.2062C>T (p.Leu688=) c.2050C>T (p.Leu684=) c.2026C>T (p.Leu676=) c.1372C>T (p.Leu458=) c.1327C>T (p.Leu443=) c.1312C>T (p.Leu438=) c.1126C>T (p.Leu376=) n.656-2793G>A n.1240C>T | dbSNP |
| 5 | g.143281906G>C | CA361868419 | NR3C1 | c.2317C>G (p.Leu773Val) c.2224C>G (p.Leu742Val) c.2320C>G (p.Leu774Val) c.2181+662C>G (n.2181+662C>G) c.2239C>G (p.Leu747Val) c.2062C>G (p.Leu688Val) c.2050C>G (p.Leu684Val) c.2026C>G (p.Leu676Val) c.1372C>G (p.Leu458Val) c.1327C>G (p.Leu443Val) c.1312C>G (p.Leu438Val) c.1126C>G (p.Leu376Val) n.656-2793G>C n.1240C>G | |
| 5 | g.143281906G>T | CA3486679 | NR3C1 | c.2317C>A (p.Leu773Met) c.2224C>A (p.Leu742Met) c.2320C>A (p.Leu774Met) c.2181+662C>A (n.2181+662C>A) c.2239C>A (p.Leu747Met) c.2062C>A (p.Leu688Met) c.2050C>A (p.Leu684Met) c.2026C>A (p.Leu676Met) c.1372C>A (p.Leu458Met) c.1327C>A (p.Leu443Met) c.1312C>A (p.Leu438Met) c.1126C>A (p.Leu376Met) n.656-2793G>T n.1240C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.143281907A>C | CA446961834 | NR3C1 | c.2316T>G (p.Leu772=) c.2223T>G (p.Leu741=) c.2319T>G (p.Leu773=) c.2181+661T>G (n.2181+661T>G) c.2238T>G (p.Leu746=) c.2061T>G (p.Leu687=) c.2049T>G (p.Leu683=) c.2025T>G (p.Leu675=) c.1371T>G (p.Leu457=) c.1326T>G (p.Leu442=) c.1311T>G (p.Leu437=) c.1125T>G (p.Leu375=) n.656-2792A>C n.1239T>G | |
| 5 | g.143281907A>G | CA446961836 | NR3C1 | c.2316T>C (p.Leu772=) c.2223T>C (p.Leu741=) c.2319T>C (p.Leu773=) c.2181+661T>C (n.2181+661T>C) c.2238T>C (p.Leu746=) c.2061T>C (p.Leu687=) c.2049T>C (p.Leu683=) c.2025T>C (p.Leu675=) c.1371T>C (p.Leu457=) c.1326T>C (p.Leu442=) c.1311T>C (p.Leu437=) c.1125T>C (p.Leu375=) n.656-2792A>G n.1239T>C | |
| 5 | g.143281907A>T | CA446961835 | NR3C1 | c.2316T>A (p.Leu772=) c.2223T>A (p.Leu741=) c.2319T>A (p.Leu773=) c.2181+661T>A (n.2181+661T>A) c.2238T>A (p.Leu746=) c.2061T>A (p.Leu687=) c.2049T>A (p.Leu683=) c.2025T>A (p.Leu675=) c.1371T>A (p.Leu457=) c.1326T>A (p.Leu442=) c.1311T>A (p.Leu437=) c.1125T>A (p.Leu375=) n.656-2792A>T n.1239T>A | |
| 5 | g.143281908A>C | CA361868420 | NR3C1 | c.2315T>G (p.Leu772Arg) c.2222T>G (p.Leu741Arg) c.2318T>G (p.Leu773Arg) c.2181+660T>G (n.2181+660T>G) c.2237T>G (p.Leu746Arg) c.2060T>G (p.Leu687Arg) c.2048T>G (p.Leu683Arg) c.2024T>G (p.Leu675Arg) c.1370T>G (p.Leu457Arg) c.1325T>G (p.Leu442Arg) c.1310T>G (p.Leu437Arg) c.1124T>G (p.Leu375Arg) n.656-2791A>C n.1238T>G | |
| 5 | g.143281908A>G | CA361868421 | NR3C1 | c.2315T>C (p.Leu772Pro) c.2222T>C (p.Leu741Pro) c.2318T>C (p.Leu773Pro) c.2181+660T>C (n.2181+660T>C) c.2237T>C (p.Leu746Pro) c.2060T>C (p.Leu687Pro) c.2048T>C (p.Leu683Pro) c.2024T>C (p.Leu675Pro) c.1370T>C (p.Leu457Pro) c.1325T>C (p.Leu442Pro) c.1310T>C (p.Leu437Pro) c.1124T>C (p.Leu375Pro) n.656-2791A>G n.1238T>C | COSMIC |
| 5 | g.143281908A>T | CA361868422 | NR3C1 | c.2315T>A (p.Leu772His) c.2222T>A (p.Leu741His) c.2318T>A (p.Leu773His) c.2181+660T>A (n.2181+660T>A) c.2237T>A (p.Leu746His) c.2060T>A (p.Leu687His) c.2048T>A (p.Leu683His) c.2024T>A (p.Leu675His) c.1370T>A (p.Leu457His) c.1325T>A (p.Leu442His) c.1310T>A (p.Leu437His) c.1124T>A (p.Leu375His) n.656-2791A>T n.1238T>A | |
| 5 | g.143281909G>A | CA361868423 | NR3C1 | c.2314C>T (p.Leu772Phe) c.2221C>T (p.Leu741Phe) c.2317C>T (p.Leu773Phe) c.2181+659C>T (n.2181+659C>T) c.2236C>T (p.Leu746Phe) c.2059C>T (p.Leu687Phe) c.2047C>T (p.Leu683Phe) c.2023C>T (p.Leu675Phe) c.1369C>T (p.Leu457Phe) c.1324C>T (p.Leu442Phe) c.1309C>T (p.Leu437Phe) c.1123C>T (p.Leu375Phe) n.656-2790G>A n.1237C>T | |
| 5 | g.143281909G>C | CA361868424 | NR3C1 | c.2314C>G (p.Leu772Val) c.2221C>G (p.Leu741Val) c.2317C>G (p.Leu773Val) c.2181+659C>G (n.2181+659C>G) c.2236C>G (p.Leu746Val) c.2059C>G (p.Leu687Val) c.2047C>G (p.Leu683Val) c.2023C>G (p.Leu675Val) c.1369C>G (p.Leu457Val) c.1324C>G (p.Leu442Val) c.1309C>G (p.Leu437Val) c.1123C>G (p.Leu375Val) n.656-2790G>C n.1237C>G | |
| 5 | g.143281909G>T | CA361868425 | NR3C1 | c.2314C>A (p.Leu772Ile) c.2221C>A (p.Leu741Ile) c.2317C>A (p.Leu773Ile) c.2181+659C>A (n.2181+659C>A) c.2236C>A (p.Leu746Ile) c.2059C>A (p.Leu687Ile) c.2047C>A (p.Leu683Ile) c.2023C>A (p.Leu675Ile) c.1369C>A (p.Leu457Ile) c.1324C>A (p.Leu442Ile) c.1309C>A (p.Leu437Ile) c.1123C>A (p.Leu375Ile) n.656-2790G>T n.1237C>A | |
| 5 | g.143281910T>A | CA361868426 | NR3C1 | c.2313A>T (p.Lys771Asn) c.2220A>T (p.Lys740Asn) c.2316A>T (p.Lys772Asn) c.2181+658A>T (n.2181+658A>T) c.2235A>T (p.Lys745Asn) c.2058A>T (p.Lys686Asn) c.2046A>T (p.Lys682Asn) c.2022A>T (p.Lys674Asn) c.1368A>T (p.Lys456Asn) c.1323A>T (p.Lys441Asn) c.1308A>T (p.Lys436Asn) c.1122A>T (p.Lys374Asn) n.656-2789T>A n.1236A>T | |
| 5 | g.143281910T>C | CA446961837 | NR3C1 | c.2313A>G (p.Lys771=) c.2220A>G (p.Lys740=) c.2316A>G (p.Lys772=) c.2181+658A>G (n.2181+658A>G) c.2235A>G (p.Lys745=) c.2058A>G (p.Lys686=) c.2046A>G (p.Lys682=) c.2022A>G (p.Lys674=) c.1368A>G (p.Lys456=) c.1323A>G (p.Lys441=) c.1308A>G (p.Lys436=) c.1122A>G (p.Lys374=) n.656-2789T>C n.1236A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.143281910T>G | CA361868427 | NR3C1 | c.2313A>C (p.Lys771Asn) c.2220A>C (p.Lys740Asn) c.2316A>C (p.Lys772Asn) c.2181+658A>C (n.2181+658A>C) c.2235A>C (p.Lys745Asn) c.2058A>C (p.Lys686Asn) c.2046A>C (p.Lys682Asn) c.2022A>C (p.Lys674Asn) c.1368A>C (p.Lys456Asn) c.1323A>C (p.Lys441Asn) c.1308A>C (p.Lys436Asn) c.1122A>C (p.Lys374Asn) n.656-2789T>G n.1236A>C | |
| 5 | g.143281915dup | CA645567693 | NR3C1 | c.2313dup (p.Leu772ThrfsTer27) c.2220dup (p.Leu741ThrfsTer27) c.2316dup (p.Leu773ThrfsTer27) c.2181+658dup (n.2181+658dup) c.2235dup (p.Leu746ThrfsTer27) c.2058dup (p.Leu687ThrfsTer27) c.2046dup (p.Leu683ThrfsTer27) c.2022dup (p.Leu675ThrfsTer27) c.1368dup (p.Leu457ThrfsTer27) c.1323dup (p.Leu442ThrfsTer27) c.1308dup (p.Leu437ThrfsTer27) c.1122dup (p.Leu375ThrfsTer27) n.656-2784dup n.1236dup | gnomAD v4 COSMIC |
| 5 | g.143281915del | CA645567692 | NR3C1 | c.2313del (p.Lys771AsnfsTer?) c.2220del (p.Lys740AsnfsTer?) c.2316del (p.Lys772AsnfsTer?) c.2181+658del (n.2181+658del) c.2235del (p.Lys745AsnfsTer?) c.2058del (p.Lys686AsnfsTer?) c.2046del (p.Lys682AsnfsTer?) c.2022del (p.Lys674AsnfsTer?) c.1368del (p.Lys456AsnfsTer?) c.1323del (p.Lys441AsnfsTer?) c.1308del (p.Lys436AsnfsTer?) c.1122del (p.Lys374AsnfsTer?) n.656-2784del n.1236del | COSMIC |
| 5 | g.143281911T>A | CA361868429 | NR3C1 | c.2312A>T (p.Lys771Ile) c.2219A>T (p.Lys740Ile) c.2315A>T (p.Lys772Ile) c.2181+657A>T (n.2181+657A>T) c.2234A>T (p.Lys745Ile) c.2057A>T (p.Lys686Ile) c.2045A>T (p.Lys682Ile) c.2021A>T (p.Lys674Ile) c.1367A>T (p.Lys456Ile) c.1322A>T (p.Lys441Ile) c.1307A>T (p.Lys436Ile) c.1121A>T (p.Lys374Ile) n.656-2788T>A n.1235A>T | |
| 5 | g.143281911T>C | CA361868430 | NR3C1 | c.2312A>G (p.Lys771Arg) c.2219A>G (p.Lys740Arg) c.2315A>G (p.Lys772Arg) c.2181+657A>G (n.2181+657A>G) c.2234A>G (p.Lys745Arg) c.2057A>G (p.Lys686Arg) c.2045A>G (p.Lys682Arg) c.2021A>G (p.Lys674Arg) c.1367A>G (p.Lys456Arg) c.1322A>G (p.Lys441Arg) c.1307A>G (p.Lys436Arg) c.1121A>G (p.Lys374Arg) n.656-2788T>C n.1235A>G | |
| 5 | g.143281911T>G | CA361868428 | NR3C1 | c.2312A>C (p.Lys771Thr) c.2219A>C (p.Lys740Thr) c.2315A>C (p.Lys772Thr) c.2181+657A>C (n.2181+657A>C) c.2234A>C (p.Lys745Thr) c.2057A>C (p.Lys686Thr) c.2045A>C (p.Lys682Thr) c.2021A>C (p.Lys674Thr) c.1367A>C (p.Lys456Thr) c.1322A>C (p.Lys441Thr) c.1307A>C (p.Lys436Thr) c.1121A>C (p.Lys374Thr) n.656-2788T>G n.1235A>C | |
| 5 | g.143281912T>A | CA361868431 | NR3C1 | c.2311A>T (p.Lys771Ter) c.2218A>T (p.Lys740Ter) c.2314A>T (p.Lys772Ter) c.2181+656A>T (n.2181+656A>T) c.2233A>T (p.Lys745Ter) c.2056A>T (p.Lys686Ter) c.2044A>T (p.Lys682Ter) c.2020A>T (p.Lys674Ter) c.1366A>T (p.Lys456Ter) c.1321A>T (p.Lys441Ter) c.1306A>T (p.Lys436Ter) c.1120A>T (p.Lys374Ter) n.656-2787T>A n.1234A>T | |
| 5 | g.143281912T>C | CA361868432 | NR3C1 | c.2311A>G (p.Lys771Glu) c.2218A>G (p.Lys740Glu) c.2314A>G (p.Lys772Glu) c.2181+656A>G (n.2181+656A>G) c.2233A>G (p.Lys745Glu) c.2056A>G (p.Lys686Glu) c.2044A>G (p.Lys682Glu) c.2020A>G (p.Lys674Glu) c.1366A>G (p.Lys456Glu) c.1321A>G (p.Lys441Glu) c.1306A>G (p.Lys436Glu) c.1120A>G (p.Lys374Glu) n.656-2787T>C n.1234A>G | |
| 5 | g.143281912T>G | CA361868433 | NR3C1 | c.2311A>C (p.Lys771Gln) c.2218A>C (p.Lys740Gln) c.2314A>C (p.Lys772Gln) c.2181+656A>C (n.2181+656A>C) c.2233A>C (p.Lys745Gln) c.2056A>C (p.Lys686Gln) c.2044A>C (p.Lys682Gln) c.2020A>C (p.Lys674Gln) c.1366A>C (p.Lys456Gln) c.1321A>C (p.Lys441Gln) c.1306A>C (p.Lys436Gln) c.1120A>C (p.Lys374Gln) n.656-2787T>G n.1234A>C | |
| 5 | g.143281913T>A | CA361868434 | NR3C1 | c.2310A>T (p.Lys770Asn) c.2217A>T (p.Lys739Asn) c.2313A>T (p.Lys771Asn) c.2181+655A>T (n.2181+655A>T) c.2232A>T (p.Lys744Asn) c.2055A>T (p.Lys685Asn) c.2043A>T (p.Lys681Asn) c.2019A>T (p.Lys673Asn) c.1365A>T (p.Lys455Asn) c.1320A>T (p.Lys440Asn) c.1305A>T (p.Lys435Asn) c.1119A>T (p.Lys373Asn) n.656-2786T>A n.1233A>T | |
| 5 | g.143281913T>C | CA446961838 | NR3C1 | c.2310A>G (p.Lys770=) c.2217A>G (p.Lys739=) c.2313A>G (p.Lys771=) c.2181+655A>G (n.2181+655A>G) c.2232A>G (p.Lys744=) c.2055A>G (p.Lys685=) c.2043A>G (p.Lys681=) c.2019A>G (p.Lys673=) c.1365A>G (p.Lys455=) c.1320A>G (p.Lys440=) c.1305A>G (p.Lys435=) c.1119A>G (p.Lys373=) n.656-2786T>C n.1233A>G | |
| 5 | g.143281913T>G | CA361868435 | NR3C1 | c.2310A>C (p.Lys770Asn) c.2217A>C (p.Lys739Asn) c.2313A>C (p.Lys771Asn) c.2181+655A>C (n.2181+655A>C) c.2232A>C (p.Lys744Asn) c.2055A>C (p.Lys685Asn) c.2043A>C (p.Lys681Asn) c.2019A>C (p.Lys673Asn) c.1365A>C (p.Lys455Asn) c.1320A>C (p.Lys440Asn) c.1305A>C (p.Lys435Asn) c.1119A>C (p.Lys373Asn) n.656-2786T>G n.1233A>C | |
| 5 | g.143281914T>A | CA361868436 | NR3C1 | c.2309A>T (p.Lys770Ile) c.2216A>T (p.Lys739Ile) c.2312A>T (p.Lys771Ile) c.2181+654A>T (n.2181+654A>T) c.2231A>T (p.Lys744Ile) c.2054A>T (p.Lys685Ile) c.2042A>T (p.Lys681Ile) c.2018A>T (p.Lys673Ile) c.1364A>T (p.Lys455Ile) c.1319A>T (p.Lys440Ile) c.1304A>T (p.Lys435Ile) c.1118A>T (p.Lys373Ile) n.656-2785T>A n.1232A>T | |
| 5 | g.143281914T>C | CA3486680 | NR3C1 | c.2309A>G (p.Lys770Arg) c.2216A>G (p.Lys739Arg) c.2312A>G (p.Lys771Arg) c.2181+654A>G (n.2181+654A>G) c.2231A>G (p.Lys744Arg) c.2054A>G (p.Lys685Arg) c.2042A>G (p.Lys681Arg) c.2018A>G (p.Lys673Arg) c.1364A>G (p.Lys455Arg) c.1319A>G (p.Lys440Arg) c.1304A>G (p.Lys435Arg) c.1118A>G (p.Lys373Arg) n.656-2785T>C n.1232A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.143281914T>G | CA361868437 | NR3C1 | c.2309A>C (p.Lys770Thr) c.2216A>C (p.Lys739Thr) c.2312A>C (p.Lys771Thr) c.2181+654A>C (n.2181+654A>C) c.2231A>C (p.Lys744Thr) c.2054A>C (p.Lys685Thr) c.2042A>C (p.Lys681Thr) c.2018A>C (p.Lys673Thr) c.1364A>C (p.Lys455Thr) c.1319A>C (p.Lys440Thr) c.1304A>C (p.Lys435Thr) c.1118A>C (p.Lys373Thr) n.656-2785T>G n.1232A>C | |
| 5 | g.143281915T>A | CA361868438 | NR3C1 | c.2308A>T (p.Lys770Ter) c.2215A>T (p.Lys739Ter) c.2311A>T (p.Lys771Ter) c.2181+653A>T (n.2181+653A>T) c.2230A>T (p.Lys744Ter) c.2053A>T (p.Lys685Ter) c.2041A>T (p.Lys681Ter) c.2017A>T (p.Lys673Ter) c.1363A>T (p.Lys455Ter) c.1318A>T (p.Lys440Ter) c.1303A>T (p.Lys435Ter) c.1117A>T (p.Lys373Ter) n.656-2784T>A n.1231A>T | |
| 5 | g.143281915T>C | CA361868439 | NR3C1 | c.2308A>G (p.Lys770Glu) c.2215A>G (p.Lys739Glu) c.2311A>G (p.Lys771Glu) c.2181+653A>G (n.2181+653A>G) c.2230A>G (p.Lys744Glu) c.2053A>G (p.Lys685Glu) c.2041A>G (p.Lys681Glu) c.2017A>G (p.Lys673Glu) c.1363A>G (p.Lys455Glu) c.1318A>G (p.Lys440Glu) c.1303A>G (p.Lys435Glu) c.1117A>G (p.Lys373Glu) n.656-2784T>C n.1231A>G | |
| 5 | g.143281915T>G | CA361868440 | NR3C1 | c.2308A>C (p.Lys770Gln) c.2215A>C (p.Lys739Gln) c.2311A>C (p.Lys771Gln) c.2181+653A>C (n.2181+653A>C) c.2230A>C (p.Lys744Gln) c.2053A>C (p.Lys685Gln) c.2041A>C (p.Lys681Gln) c.2017A>C (p.Lys673Gln) c.1363A>C (p.Lys455Gln) c.1318A>C (p.Lys440Gln) c.1303A>C (p.Lys435Gln) c.1117A>C (p.Lys373Gln) n.656-2784T>G n.1231A>C | |
| 5 | g.143281916G>A | CA446961840 | NR3C1 | c.2307C>T (p.Ile769=) c.2214C>T (p.Ile738=) c.2310C>T (p.Ile770=) c.2181+652C>T (n.2181+652C>T) c.2229C>T (p.Ile743=) c.2052C>T (p.Ile684=) c.2040C>T (p.Ile680=) c.2016C>T (p.Ile672=) c.1362C>T (p.Ile454=) c.1317C>T (p.Ile439=) c.1302C>T (p.Ile434=) c.1116C>T (p.Ile372=) n.656-2783G>A n.1230C>T | |
| 5 | g.143281916G>C | CA10619252 | NR3C1 | c.2307C>G (p.Ile769Met) c.2214C>G (p.Ile738Met) c.2310C>G (p.Ile770Met) c.2181+652C>G (n.2181+652C>G) c.2229C>G (p.Ile743Met) c.2052C>G (p.Ile684Met) c.2040C>G (p.Ile680Met) c.2016C>G (p.Ile672Met) c.1362C>G (p.Ile454Met) c.1317C>G (p.Ile439Met) c.1302C>G (p.Ile434Met) c.1116C>G (p.Ile372Met) n.656-2783G>C n.1230C>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.143281916G>T | CA446961839 | NR3C1 | c.2307C>A (p.Ile769=) c.2214C>A (p.Ile738=) c.2310C>A (p.Ile770=) c.2181+652C>A (n.2181+652C>A) c.2229C>A (p.Ile743=) c.2052C>A (p.Ile684=) c.2040C>A (p.Ile680=) c.2016C>A (p.Ile672=) c.1362C>A (p.Ile454=) c.1317C>A (p.Ile439=) c.1302C>A (p.Ile434=) c.1116C>A (p.Ile372=) n.656-2783G>T n.1230C>A | gnomAD v4 |
| 5 | g.143281917A>C | CA361868442 | NR3C1 | c.2306T>G (p.Ile769Ser) c.2213T>G (p.Ile738Ser) c.2309T>G (p.Ile770Ser) c.2181+651T>G (n.2181+651T>G) c.2228T>G (p.Ile743Ser) c.2051T>G (p.Ile684Ser) c.2039T>G (p.Ile680Ser) c.2015T>G (p.Ile672Ser) c.1361T>G (p.Ile454Ser) c.1316T>G (p.Ile439Ser) c.1301T>G (p.Ile434Ser) c.1115T>G (p.Ile372Ser) n.656-2782A>C n.1229T>G | |
| 5 | g.143281917A>G | CA361868443 | NR3C1 | c.2306T>C (p.Ile769Thr) c.2213T>C (p.Ile738Thr) c.2309T>C (p.Ile770Thr) c.2181+651T>C (n.2181+651T>C) c.2228T>C (p.Ile743Thr) c.2051T>C (p.Ile684Thr) c.2039T>C (p.Ile680Thr) c.2015T>C (p.Ile672Thr) c.1361T>C (p.Ile454Thr) c.1316T>C (p.Ile439Thr) c.1301T>C (p.Ile434Thr) c.1115T>C (p.Ile372Thr) n.656-2782A>G n.1229T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.143281917A>T | CA361868441 | NR3C1 | c.2306T>A (p.Ile769Asn) c.2213T>A (p.Ile738Asn) c.2309T>A (p.Ile770Asn) c.2181+651T>A (n.2181+651T>A) c.2228T>A (p.Ile743Asn) c.2051T>A (p.Ile684Asn) c.2039T>A (p.Ile680Asn) c.2015T>A (p.Ile672Asn) c.1361T>A (p.Ile454Asn) c.1316T>A (p.Ile439Asn) c.1301T>A (p.Ile434Asn) c.1115T>A (p.Ile372Asn) n.656-2782A>T n.1229T>A | |
| 5 | g.143281918T>A | CA361868444 | NR3C1 | c.2305A>T (p.Ile769Phe) c.2212A>T (p.Ile738Phe) c.2308A>T (p.Ile770Phe) c.2181+650A>T (n.2181+650A>T) c.2227A>T (p.Ile743Phe) c.2050A>T (p.Ile684Phe) c.2038A>T (p.Ile680Phe) c.2014A>T (p.Ile672Phe) c.1360A>T (p.Ile454Phe) c.1315A>T (p.Ile439Phe) c.1300A>T (p.Ile434Phe) c.1114A>T (p.Ile372Phe) n.656-2781T>A n.1228A>T | |
| 5 | g.143281918T>C | CA361868445 | NR3C1 | c.2305A>G (p.Ile769Val) c.2212A>G (p.Ile738Val) c.2308A>G (p.Ile770Val) c.2181+650A>G (n.2181+650A>G) c.2227A>G (p.Ile743Val) c.2050A>G (p.Ile684Val) c.2038A>G (p.Ile680Val) c.2014A>G (p.Ile672Val) c.1360A>G (p.Ile454Val) c.1315A>G (p.Ile439Val) c.1300A>G (p.Ile434Val) c.1114A>G (p.Ile372Val) n.656-2781T>C n.1228A>G | |
| 5 | g.143281918T>G | CA361868446 | NR3C1 | c.2305A>C (p.Ile769Leu) c.2212A>C (p.Ile738Leu) c.2308A>C (p.Ile770Leu) c.2181+650A>C (n.2181+650A>C) c.2227A>C (p.Ile743Leu) c.2050A>C (p.Ile684Leu) c.2038A>C (p.Ile680Leu) c.2014A>C (p.Ile672Leu) c.1360A>C (p.Ile454Leu) c.1315A>C (p.Ile439Leu) c.1300A>C (p.Ile434Leu) c.1114A>C (p.Ile372Leu) n.656-2781T>G n.1228A>C | gnomAD v4 |
| 5 | g.143281919A>C | CA361868447 | NR3C1 | c.2304T>G (p.Asn768Lys) c.2211T>G (p.Asn737Lys) c.2307T>G (p.Asn769Lys) c.2181+649T>G (n.2181+649T>G) c.2226T>G (p.Asn742Lys) c.2049T>G (p.Asn683Lys) c.2037T>G (p.Asn679Lys) c.2013T>G (p.Asn671Lys) c.1359T>G (p.Asn453Lys) c.1314T>G (p.Asn438Lys) c.1299T>G (p.Asn433Lys) c.1113T>G (p.Asn371Lys) n.656-2780A>C n.1227T>G | |
| 5 | g.143281919A>G | CA446961841 | NR3C1 | c.2304T>C (p.Asn768=) c.2211T>C (p.Asn737=) c.2307T>C (p.Asn769=) c.2181+649T>C (n.2181+649T>C) c.2226T>C (p.Asn742=) c.2049T>C (p.Asn683=) c.2037T>C (p.Asn679=) c.2013T>C (p.Asn671=) c.1359T>C (p.Asn453=) c.1314T>C (p.Asn438=) c.1299T>C (p.Asn433=) c.1113T>C (p.Asn371=) n.656-2780A>G n.1227T>C | dbSNP |