Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
5 | g.143281919A>T | CA361868448 | NR3C1 | c.2304T>A (p.Asn768Lys) c.2211T>A (p.Asn737Lys) c.2307T>A (p.Asn769Lys) c.2181+649T>A (n.2181+649T>A) c.2226T>A (p.Asn742Lys) c.2049T>A (p.Asn683Lys) c.2037T>A (p.Asn679Lys) c.2013T>A (p.Asn671Lys) c.1359T>A (p.Asn453Lys) c.1314T>A (p.Asn438Lys) c.1299T>A (p.Asn433Lys) c.1113T>A (p.Asn371Lys) n.656-2780A>T n.1227T>A | |
5 | g.143281920T>A | CA361868451 | NR3C1 | c.2303A>T (p.Asn768Ile) c.2210A>T (p.Asn737Ile) c.2306A>T (p.Asn769Ile) c.2181+648A>T (n.2181+648A>T) c.2225A>T (p.Asn742Ile) c.2048A>T (p.Asn683Ile) c.2036A>T (p.Asn679Ile) c.2012A>T (p.Asn671Ile) c.1358A>T (p.Asn453Ile) c.1313A>T (p.Asn438Ile) c.1298A>T (p.Asn433Ile) c.1112A>T (p.Asn371Ile) n.656-2779T>A n.1226A>T | |
5 | g.143281920T>C | CA361868449 | NR3C1 | c.2303A>G (p.Asn768Ser) c.2210A>G (p.Asn737Ser) c.2306A>G (p.Asn769Ser) c.2181+648A>G (n.2181+648A>G) c.2225A>G (p.Asn742Ser) c.2048A>G (p.Asn683Ser) c.2036A>G (p.Asn679Ser) c.2012A>G (p.Asn671Ser) c.1358A>G (p.Asn453Ser) c.1313A>G (p.Asn438Ser) c.1298A>G (p.Asn433Ser) c.1112A>G (p.Asn371Ser) n.656-2779T>C n.1226A>G | |
5 | g.143281920T>G | CA361868450 | NR3C1 | c.2303A>C (p.Asn768Thr) c.2210A>C (p.Asn737Thr) c.2306A>C (p.Asn769Thr) c.2181+648A>C (n.2181+648A>C) c.2225A>C (p.Asn742Thr) c.2048A>C (p.Asn683Thr) c.2036A>C (p.Asn679Thr) c.2012A>C (p.Asn671Thr) c.1358A>C (p.Asn453Thr) c.1313A>C (p.Asn438Thr) c.1298A>C (p.Asn433Thr) c.1112A>C (p.Asn371Thr) n.656-2779T>G n.1226A>C | |
5 | g.143281921T>A | CA361868452 | NR3C1 | c.2302A>T (p.Asn768Tyr) c.2209A>T (p.Asn737Tyr) c.2305A>T (p.Asn769Tyr) c.2181+647A>T (n.2181+647A>T) c.2224A>T (p.Asn742Tyr) c.2047A>T (p.Asn683Tyr) c.2035A>T (p.Asn679Tyr) c.2011A>T (p.Asn671Tyr) c.1357A>T (p.Asn453Tyr) c.1312A>T (p.Asn438Tyr) c.1297A>T (p.Asn433Tyr) c.1111A>T (p.Asn371Tyr) n.656-2778T>A n.1225A>T | |
5 | g.143281921T>C | CA3486681 | NR3C1 | c.2302A>G (p.Asn768Asp) c.2209A>G (p.Asn737Asp) c.2305A>G (p.Asn769Asp) c.2181+647A>G (n.2181+647A>G) c.2224A>G (p.Asn742Asp) c.2047A>G (p.Asn683Asp) c.2035A>G (p.Asn679Asp) c.2011A>G (p.Asn671Asp) c.1357A>G (p.Asn453Asp) c.1312A>G (p.Asn438Asp) c.1297A>G (p.Asn433Asp) c.1111A>G (p.Asn371Asp) n.656-2778T>C n.1225A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.143281921T>G | CA361868453 | NR3C1 | c.2302A>C (p.Asn768His) c.2209A>C (p.Asn737His) c.2305A>C (p.Asn769His) c.2181+647A>C (n.2181+647A>C) c.2224A>C (p.Asn742His) c.2047A>C (p.Asn683His) c.2035A>C (p.Asn679His) c.2011A>C (p.Asn671His) c.1357A>C (p.Asn453His) c.1312A>C (p.Asn438His) c.1297A>C (p.Asn433His) c.1111A>C (p.Asn371His) n.656-2778T>G n.1225A>C | |
5 | g.143281922T>A | CA446961842 | NR3C1 | c.2301A>T (p.Gly767=) c.2208A>T (p.Gly736=) c.2304A>T (p.Gly768=) c.2181+646A>T (n.2181+646A>T) c.2223A>T (p.Gly741=) c.2046A>T (p.Gly682=) c.2034A>T (p.Gly678=) c.2010A>T (p.Gly670=) c.1356A>T (p.Gly452=) c.1311A>T (p.Gly437=) c.1296A>T (p.Gly432=) c.1110A>T (p.Gly370=) n.656-2777T>A n.1224A>T | |
5 | g.143281922T>C | CA446961843 | NR3C1 | c.2301A>G (p.Gly767=) c.2208A>G (p.Gly736=) c.2304A>G (p.Gly768=) c.2181+646A>G (n.2181+646A>G) c.2223A>G (p.Gly741=) c.2046A>G (p.Gly682=) c.2034A>G (p.Gly678=) c.2010A>G (p.Gly670=) c.1356A>G (p.Gly452=) c.1311A>G (p.Gly437=) c.1296A>G (p.Gly432=) c.1110A>G (p.Gly370=) n.656-2777T>C n.1224A>G | |
5 | g.143281922T>G | CA446961844 | NR3C1 | c.2301A>C (p.Gly767=) c.2208A>C (p.Gly736=) c.2304A>C (p.Gly768=) c.2181+646A>C (n.2181+646A>C) c.2223A>C (p.Gly741=) c.2046A>C (p.Gly682=) c.2034A>C (p.Gly678=) c.2010A>C (p.Gly670=) c.1356A>C (p.Gly452=) c.1311A>C (p.Gly437=) c.1296A>C (p.Gly432=) c.1110A>C (p.Gly370=) n.656-2777T>G n.1224A>C | |
5 | g.143281923C>A | CA361868454 | NR3C1 | c.2300G>T (p.Gly767Val) c.2207G>T (p.Gly736Val) c.2303G>T (p.Gly768Val) c.2181+645G>T (n.2181+645G>T) c.2222G>T (p.Gly741Val) c.2045G>T (p.Gly682Val) c.2033G>T (p.Gly678Val) c.2009G>T (p.Gly670Val) c.1355G>T (p.Gly452Val) c.1310G>T (p.Gly437Val) c.1295G>T (p.Gly432Val) c.1109G>T (p.Gly370Val) n.656-2776C>A n.1223G>T | |
5 | g.143281923C>G | CA361868455 | NR3C1 | c.2300G>C (p.Gly767Ala) c.2207G>C (p.Gly736Ala) c.2303G>C (p.Gly768Ala) c.2181+645G>C (n.2181+645G>C) c.2222G>C (p.Gly741Ala) c.2045G>C (p.Gly682Ala) c.2033G>C (p.Gly678Ala) c.2009G>C (p.Gly670Ala) c.1355G>C (p.Gly452Ala) c.1310G>C (p.Gly437Ala) c.1295G>C (p.Gly432Ala) c.1109G>C (p.Gly370Ala) n.656-2776C>G n.1223G>C | COSMIC |
5 | g.143281923C>T | CA361868456 | NR3C1 | c.2300G>A (p.Gly767Glu) c.2207G>A (p.Gly736Glu) c.2303G>A (p.Gly768Glu) c.2181+645G>A (n.2181+645G>A) c.2222G>A (p.Gly741Glu) c.2045G>A (p.Gly682Glu) c.2033G>A (p.Gly678Glu) c.2009G>A (p.Gly670Glu) c.1355G>A (p.Gly452Glu) c.1310G>A (p.Gly437Glu) c.1295G>A (p.Gly432Glu) c.1109G>A (p.Gly370Glu) n.656-2776C>T n.1223G>A | |
5 | g.143281924C>A | CA361868458 | NR3C1 | c.2299G>T (p.Gly767Ter) c.2206G>T (p.Gly736Ter) c.2302G>T (p.Gly768Ter) c.2181+644G>T (n.2181+644G>T) c.2221G>T (p.Gly741Ter) c.2044G>T (p.Gly682Ter) c.2032G>T (p.Gly678Ter) c.2008G>T (p.Gly670Ter) c.1354G>T (p.Gly452Ter) c.1309G>T (p.Gly437Ter) c.1294G>T (p.Gly432Ter) c.1108G>T (p.Gly370Ter) n.656-2775C>A n.1222G>T | |
5 | g.143281924C>G | CA361868459 | NR3C1 | c.2299G>C (p.Gly767Arg) c.2206G>C (p.Gly736Arg) c.2302G>C (p.Gly768Arg) c.2181+644G>C (n.2181+644G>C) c.2221G>C (p.Gly741Arg) c.2044G>C (p.Gly682Arg) c.2032G>C (p.Gly678Arg) c.2008G>C (p.Gly670Arg) c.1354G>C (p.Gly452Arg) c.1309G>C (p.Gly437Arg) c.1294G>C (p.Gly432Arg) c.1108G>C (p.Gly370Arg) n.656-2775C>G n.1222G>C | |
5 | g.143281924C>T | CA361868457 | NR3C1 | c.2299G>A (p.Gly767Arg) c.2206G>A (p.Gly736Arg) c.2302G>A (p.Gly768Arg) c.2181+644G>A (n.2181+644G>A) c.2221G>A (p.Gly741Arg) c.2044G>A (p.Gly682Arg) c.2032G>A (p.Gly678Arg) c.2008G>A (p.Gly670Arg) c.1354G>A (p.Gly452Arg) c.1309G>A (p.Gly437Arg) c.1294G>A (p.Gly432Arg) c.1108G>A (p.Gly370Arg) n.656-2775C>T n.1222G>A | dbSNP |
5 | g.143281925A= | CA1630834408 | NR3C1 | c.2298T= (p.Asn766=) c.2205T= (p.Asn735=) c.2301T= (p.Asn767=) c.2181+643T= (n.2181+643T=) c.2220T= (p.Asn740=) c.2043T= (p.Asn681=) c.2031T= (p.Asn677=) c.2007T= (p.Asn669=) c.1353T= (p.Asn451=) c.1308T= (p.Asn436=) c.1293T= (p.Asn431=) c.1107T= (p.Asn369=) n.656-2774A= n.1221T= | |
5 | g.143281925A>C | CA361868460 | NR3C1 | c.2298T>G (p.Asn766Lys) c.2205T>G (p.Asn735Lys) c.2301T>G (p.Asn767Lys) c.2181+643T>G (n.2181+643T>G) c.2220T>G (p.Asn740Lys) c.2043T>G (p.Asn681Lys) c.2031T>G (p.Asn677Lys) c.2007T>G (p.Asn669Lys) c.1353T>G (p.Asn451Lys) c.1308T>G (p.Asn436Lys) c.1293T>G (p.Asn431Lys) c.1107T>G (p.Asn369Lys) n.656-2774A>C n.1221T>G | |
5 | g.143281925A>G | CA3486682 | NR3C1 | c.2298T>C (p.Asn766=) c.2205T>C (p.Asn735=) c.2301T>C (p.Asn767=) c.2181+643T>C (n.2181+643T>C) c.2220T>C (p.Asn740=) c.2043T>C (p.Asn681=) c.2031T>C (p.Asn677=) c.2007T>C (p.Asn669=) c.1353T>C (p.Asn451=) c.1308T>C (p.Asn436=) c.1293T>C (p.Asn431=) c.1107T>C (p.Asn369=) n.656-2774A>G n.1221T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.143281925A>T | CA361868461 | NR3C1 | c.2298T>A (p.Asn766Lys) c.2205T>A (p.Asn735Lys) c.2301T>A (p.Asn767Lys) c.2181+643T>A (n.2181+643T>A) c.2220T>A (p.Asn740Lys) c.2043T>A (p.Asn681Lys) c.2031T>A (p.Asn677Lys) c.2007T>A (p.Asn669Lys) c.1353T>A (p.Asn451Lys) c.1308T>A (p.Asn436Lys) c.1293T>A (p.Asn431Lys) c.1107T>A (p.Asn369Lys) n.656-2774A>T n.1221T>A | |
5 | g.143281926T>A | CA361868462 | NR3C1 | c.2297A>T (p.Asn766Ile) c.2204A>T (p.Asn735Ile) c.2300A>T (p.Asn767Ile) c.2181+642A>T (n.2181+642A>T) c.2219A>T (p.Asn740Ile) c.2042A>T (p.Asn681Ile) c.2030A>T (p.Asn677Ile) c.2006A>T (p.Asn669Ile) c.1352A>T (p.Asn451Ile) c.1307A>T (p.Asn436Ile) c.1292A>T (p.Asn431Ile) c.1106A>T (p.Asn369Ile) n.656-2773T>A n.1220A>T | |
5 | g.143281926T>C | CA361868463 | NR3C1 | c.2297A>G (p.Asn766Ser) c.2204A>G (p.Asn735Ser) c.2300A>G (p.Asn767Ser) c.2181+642A>G (n.2181+642A>G) c.2219A>G (p.Asn740Ser) c.2042A>G (p.Asn681Ser) c.2030A>G (p.Asn677Ser) c.2006A>G (p.Asn669Ser) c.1352A>G (p.Asn451Ser) c.1307A>G (p.Asn436Ser) c.1292A>G (p.Asn431Ser) c.1106A>G (p.Asn369Ser) n.656-2773T>C n.1220A>G | |
5 | g.143281926T>G | CA361868464 | NR3C1 | c.2297A>C (p.Asn766Thr) c.2204A>C (p.Asn735Thr) c.2300A>C (p.Asn767Thr) c.2181+642A>C (n.2181+642A>C) c.2219A>C (p.Asn740Thr) c.2042A>C (p.Asn681Thr) c.2030A>C (p.Asn677Thr) c.2006A>C (p.Asn669Thr) c.1352A>C (p.Asn451Thr) c.1307A>C (p.Asn436Thr) c.1292A>C (p.Asn431Thr) c.1106A>C (p.Asn369Thr) n.656-2773T>G n.1220A>C | |
5 | g.143281927T>A | CA361868465 | NR3C1 | c.2296A>T (p.Asn766Tyr) c.2203A>T (p.Asn735Tyr) c.2299A>T (p.Asn767Tyr) c.2181+641A>T (n.2181+641A>T) c.2218A>T (p.Asn740Tyr) c.2041A>T (p.Asn681Tyr) c.2029A>T (p.Asn677Tyr) c.2005A>T (p.Asn669Tyr) c.1351A>T (p.Asn451Tyr) c.1306A>T (p.Asn436Tyr) c.1291A>T (p.Asn431Tyr) c.1105A>T (p.Asn369Tyr) n.656-2772T>A n.1219A>T | |
5 | g.143281927T>C | CA3486683 | NR3C1 | c.2296A>G (p.Asn766Asp) c.2203A>G (p.Asn735Asp) c.2299A>G (p.Asn767Asp) c.2181+641A>G (n.2181+641A>G) c.2218A>G (p.Asn740Asp) c.2041A>G (p.Asn681Asp) c.2029A>G (p.Asn677Asp) c.2005A>G (p.Asn669Asp) c.1351A>G (p.Asn451Asp) c.1306A>G (p.Asn436Asp) c.1291A>G (p.Asn431Asp) c.1105A>G (p.Asn369Asp) n.656-2772T>C n.1219A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.143281927T>G | CA361868466 | NR3C1 | c.2296A>C (p.Asn766His) c.2203A>C (p.Asn735His) c.2299A>C (p.Asn767His) c.2181+641A>C (n.2181+641A>C) c.2218A>C (p.Asn740His) c.2041A>C (p.Asn681His) c.2029A>C (p.Asn677His) c.2005A>C (p.Asn669His) c.1351A>C (p.Asn451His) c.1306A>C (p.Asn436His) c.1291A>C (p.Asn431His) c.1105A>C (p.Asn369His) n.656-2772T>G n.1219A>C | |
5 | g.143281928T>A | CA446961845 | NR3C1 | c.2295A>T (p.Ser765=) c.2202A>T (p.Ser734=) c.2298A>T (p.Ser766=) c.2181+640A>T (n.2181+640A>T) c.2217A>T (p.Ser739=) c.2040A>T (p.Ser680=) c.2028A>T (p.Ser676=) c.2004A>T (p.Ser668=) c.1350A>T (p.Ser450=) c.1305A>T (p.Ser435=) c.1290A>T (p.Ser430=) c.1104A>T (p.Ser368=) n.656-2771T>A n.1218A>T | |
5 | g.143281928T>C | CA446961846 | NR3C1 | c.2295A>G (p.Ser765=) c.2202A>G (p.Ser734=) c.2298A>G (p.Ser766=) c.2181+640A>G (n.2181+640A>G) c.2217A>G (p.Ser739=) c.2040A>G (p.Ser680=) c.2028A>G (p.Ser676=) c.2004A>G (p.Ser668=) c.1350A>G (p.Ser450=) c.1305A>G (p.Ser435=) c.1290A>G (p.Ser430=) c.1104A>G (p.Ser368=) n.656-2771T>C n.1218A>G | |
5 | g.143281928T>G | CA446961847 | NR3C1 | c.2295A>C (p.Ser765=) c.2202A>C (p.Ser734=) c.2298A>C (p.Ser766=) c.2181+640A>C (n.2181+640A>C) c.2217A>C (p.Ser739=) c.2040A>C (p.Ser680=) c.2028A>C (p.Ser676=) c.2004A>C (p.Ser668=) c.1350A>C (p.Ser450=) c.1305A>C (p.Ser435=) c.1290A>C (p.Ser430=) c.1104A>C (p.Ser368=) n.656-2771T>G n.1218A>C | |
5 | g.143281929G>A | CA361868467 | NR3C1 | c.2294C>T (p.Ser765Leu) c.2201C>T (p.Ser734Leu) c.2297C>T (p.Ser766Leu) c.2181+639C>T (n.2181+639C>T) c.2216C>T (p.Ser739Leu) c.2039C>T (p.Ser680Leu) c.2027C>T (p.Ser676Leu) c.2003C>T (p.Ser668Leu) c.1349C>T (p.Ser450Leu) c.1304C>T (p.Ser435Leu) c.1289C>T (p.Ser430Leu) c.1103C>T (p.Ser368Leu) n.656-2770G>A n.1217C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.143281929G>C | CA361868468 | NR3C1 | c.2294C>G (p.Ser765Ter) c.2201C>G (p.Ser734Ter) c.2297C>G (p.Ser766Ter) c.2181+639C>G (n.2181+639C>G) c.2216C>G (p.Ser739Ter) c.2039C>G (p.Ser680Ter) c.2027C>G (p.Ser676Ter) c.2003C>G (p.Ser668Ter) c.1349C>G (p.Ser450Ter) c.1304C>G (p.Ser435Ter) c.1289C>G (p.Ser430Ter) c.1103C>G (p.Ser368Ter) n.656-2770G>C n.1217C>G | |
5 | g.143281929G>T | CA361868469 | NR3C1 | c.2294C>A (p.Ser765Ter) c.2201C>A (p.Ser734Ter) c.2297C>A (p.Ser766Ter) c.2181+639C>A (n.2181+639C>A) c.2216C>A (p.Ser739Ter) c.2039C>A (p.Ser680Ter) c.2027C>A (p.Ser676Ter) c.2003C>A (p.Ser668Ter) c.1349C>A (p.Ser450Ter) c.1304C>A (p.Ser435Ter) c.1289C>A (p.Ser430Ter) c.1103C>A (p.Ser368Ter) n.656-2770G>T n.1217C>A | |
5 | g.143281930A>C | CA361868470 | NR3C1 | c.2293T>G (p.Ser765Ala) c.2200T>G (p.Ser734Ala) c.2296T>G (p.Ser766Ala) c.2181+638T>G (n.2181+638T>G) c.2215T>G (p.Ser739Ala) c.2038T>G (p.Ser680Ala) c.2026T>G (p.Ser676Ala) c.2002T>G (p.Ser668Ala) c.1348T>G (p.Ser450Ala) c.1303T>G (p.Ser435Ala) c.1288T>G (p.Ser430Ala) c.1102T>G (p.Ser368Ala) n.656-2769A>C n.1216T>G | |
5 | g.143281930A>G | CA361868471 | NR3C1 | c.2293T>C (p.Ser765Pro) c.2200T>C (p.Ser734Pro) c.2296T>C (p.Ser766Pro) c.2181+638T>C (n.2181+638T>C) c.2215T>C (p.Ser739Pro) c.2038T>C (p.Ser680Pro) c.2026T>C (p.Ser676Pro) c.2002T>C (p.Ser668Pro) c.1348T>C (p.Ser450Pro) c.1303T>C (p.Ser435Pro) c.1288T>C (p.Ser430Pro) c.1102T>C (p.Ser368Pro) n.656-2769A>G n.1216T>C | |
5 | g.143281930A>T | CA361868472 | NR3C1 | c.2293T>A (p.Ser765Thr) c.2200T>A (p.Ser734Thr) c.2296T>A (p.Ser766Thr) c.2181+638T>A (n.2181+638T>A) c.2215T>A (p.Ser739Thr) c.2038T>A (p.Ser680Thr) c.2026T>A (p.Ser676Thr) c.2002T>A (p.Ser668Thr) c.1348T>A (p.Ser450Thr) c.1303T>A (p.Ser435Thr) c.1288T>A (p.Ser430Thr) c.1102T>A (p.Ser368Thr) n.656-2769A>T n.1216T>A | |
5 | g.143281931A>C | CA361868473 | NR3C1 | c.2292T>G (p.Tyr764Ter) c.2199T>G (p.Tyr733Ter) c.2295T>G (p.Tyr765Ter) c.2181+637T>G (n.2181+637T>G) c.2214T>G (p.Tyr738Ter) c.2037T>G (p.Tyr679Ter) c.2025T>G (p.Tyr675Ter) c.2001T>G (p.Tyr667Ter) c.1347T>G (p.Tyr449Ter) c.1302T>G (p.Tyr434Ter) c.1287T>G (p.Tyr429Ter) c.1101T>G (p.Tyr367Ter) n.656-2768A>C n.1215T>G | |
5 | g.143281931A>G | CA446961848 | NR3C1 | c.2292T>C (p.Tyr764=) c.2199T>C (p.Tyr733=) c.2295T>C (p.Tyr765=) c.2181+637T>C (n.2181+637T>C) c.2214T>C (p.Tyr738=) c.2037T>C (p.Tyr679=) c.2025T>C (p.Tyr675=) c.2001T>C (p.Tyr667=) c.1347T>C (p.Tyr449=) c.1302T>C (p.Tyr434=) c.1287T>C (p.Tyr429=) c.1101T>C (p.Tyr367=) n.656-2768A>G n.1215T>C | gnomAD v4 |
5 | g.143281931A>T | CA361868474 | NR3C1 | c.2292T>A (p.Tyr764Ter) c.2199T>A (p.Tyr733Ter) c.2295T>A (p.Tyr765Ter) c.2181+637T>A (n.2181+637T>A) c.2214T>A (p.Tyr738Ter) c.2037T>A (p.Tyr679Ter) c.2025T>A (p.Tyr675Ter) c.2001T>A (p.Tyr667Ter) c.1347T>A (p.Tyr449Ter) c.1302T>A (p.Tyr434Ter) c.1287T>A (p.Tyr429Ter) c.1101T>A (p.Tyr367Ter) n.656-2768A>T n.1215T>A | |
5 | g.143281932T>A | CA361868475 | NR3C1 | c.2291A>T (p.Tyr764Phe) c.2198A>T (p.Tyr733Phe) c.2294A>T (p.Tyr765Phe) c.2181+636A>T (n.2181+636A>T) c.2213A>T (p.Tyr738Phe) c.2036A>T (p.Tyr679Phe) c.2024A>T (p.Tyr675Phe) c.2000A>T (p.Tyr667Phe) c.1346A>T (p.Tyr449Phe) c.1301A>T (p.Tyr434Phe) c.1286A>T (p.Tyr429Phe) c.1100A>T (p.Tyr367Phe) n.656-2767T>A n.1214A>T | gnomAD v4 |
5 | g.143281932T>C | CA361868476 | NR3C1 | c.2291A>G (p.Tyr764Cys) c.2198A>G (p.Tyr733Cys) c.2294A>G (p.Tyr765Cys) c.2181+636A>G (n.2181+636A>G) c.2213A>G (p.Tyr738Cys) c.2036A>G (p.Tyr679Cys) c.2024A>G (p.Tyr675Cys) c.2000A>G (p.Tyr667Cys) c.1346A>G (p.Tyr449Cys) c.1301A>G (p.Tyr434Cys) c.1286A>G (p.Tyr429Cys) c.1100A>G (p.Tyr367Cys) n.656-2767T>C n.1214A>G | |
5 | g.143281932T>G | CA361868477 | NR3C1 | c.2291A>C (p.Tyr764Ser) c.2198A>C (p.Tyr733Ser) c.2294A>C (p.Tyr765Ser) c.2181+636A>C (n.2181+636A>C) c.2213A>C (p.Tyr738Ser) c.2036A>C (p.Tyr679Ser) c.2024A>C (p.Tyr675Ser) c.2000A>C (p.Tyr667Ser) c.1346A>C (p.Tyr449Ser) c.1301A>C (p.Tyr434Ser) c.1286A>C (p.Tyr429Ser) c.1100A>C (p.Tyr367Ser) n.656-2767T>G n.1214A>C | |
5 | g.143281933A>C | CA361868478 | NR3C1 | c.2290T>G (p.Tyr764Asp) c.2197T>G (p.Tyr733Asp) c.2293T>G (p.Tyr765Asp) c.2181+635T>G (n.2181+635T>G) c.2212T>G (p.Tyr738Asp) c.2035T>G (p.Tyr679Asp) c.2023T>G (p.Tyr675Asp) c.1999T>G (p.Tyr667Asp) c.1345T>G (p.Tyr449Asp) c.1300T>G (p.Tyr434Asp) c.1285T>G (p.Tyr429Asp) c.1099T>G (p.Tyr367Asp) n.656-2766A>C n.1213T>G | |
5 | g.143281933A>G | CA361868479 | NR3C1 | c.2290T>C (p.Tyr764His) c.2197T>C (p.Tyr733His) c.2293T>C (p.Tyr765His) c.2181+635T>C (n.2181+635T>C) c.2212T>C (p.Tyr738His) c.2035T>C (p.Tyr679His) c.2023T>C (p.Tyr675His) c.1999T>C (p.Tyr667His) c.1345T>C (p.Tyr449His) c.1300T>C (p.Tyr434His) c.1285T>C (p.Tyr429His) c.1099T>C (p.Tyr367His) n.656-2766A>G n.1213T>C | |
5 | g.143281933A>T | CA361868480 | NR3C1 | c.2290T>A (p.Tyr764Asn) c.2197T>A (p.Tyr733Asn) c.2293T>A (p.Tyr765Asn) c.2181+635T>A (n.2181+635T>A) c.2212T>A (p.Tyr738Asn) c.2035T>A (p.Tyr679Asn) c.2023T>A (p.Tyr675Asn) c.1999T>A (p.Tyr667Asn) c.1345T>A (p.Tyr449Asn) c.1300T>A (p.Tyr434Asn) c.1285T>A (p.Tyr429Asn) c.1099T>A (p.Tyr367Asn) n.656-2766A>T n.1213T>A | |
5 | g.143281934T>A | CA361868482 | NR3C1 | c.2289A>T (p.Lys763Asn) c.2196A>T (p.Lys732Asn) c.2292A>T (p.Lys764Asn) c.2181+634A>T (n.2181+634A>T) c.2211A>T (p.Lys737Asn) c.2034A>T (p.Lys678Asn) c.2022A>T (p.Lys674Asn) c.1998A>T (p.Lys666Asn) c.1344A>T (p.Lys448Asn) c.1299A>T (p.Lys433Asn) c.1284A>T (p.Lys428Asn) c.1098A>T (p.Lys366Asn) n.656-2765T>A n.1212A>T | |
5 | g.143281934T>C | CA446961849 | NR3C1 | c.2289A>G (p.Lys763=) c.2196A>G (p.Lys732=) c.2292A>G (p.Lys764=) c.2181+634A>G (n.2181+634A>G) c.2211A>G (p.Lys737=) c.2034A>G (p.Lys678=) c.2022A>G (p.Lys674=) c.1998A>G (p.Lys666=) c.1344A>G (p.Lys448=) c.1299A>G (p.Lys433=) c.1284A>G (p.Lys428=) c.1098A>G (p.Lys366=) n.656-2765T>C n.1212A>G | |
5 | g.143281934T>G | CA361868481 | NR3C1 | c.2289A>C (p.Lys763Asn) c.2196A>C (p.Lys732Asn) c.2292A>C (p.Lys764Asn) c.2181+634A>C (n.2181+634A>C) c.2211A>C (p.Lys737Asn) c.2034A>C (p.Lys678Asn) c.2022A>C (p.Lys674Asn) c.1998A>C (p.Lys666Asn) c.1344A>C (p.Lys448Asn) c.1299A>C (p.Lys433Asn) c.1284A>C (p.Lys428Asn) c.1098A>C (p.Lys366Asn) n.656-2765T>G n.1212A>C | |
5 | g.143281935T>A | CA361868483 | NR3C1 | c.2288A>T (p.Lys763Ile) c.2195A>T (p.Lys732Ile) c.2291A>T (p.Lys764Ile) c.2181+633A>T (n.2181+633A>T) c.2210A>T (p.Lys737Ile) c.2033A>T (p.Lys678Ile) c.2021A>T (p.Lys674Ile) c.1997A>T (p.Lys666Ile) c.1343A>T (p.Lys448Ile) c.1298A>T (p.Lys433Ile) c.1283A>T (p.Lys428Ile) c.1097A>T (p.Lys366Ile) n.656-2764T>A n.1211A>T |