Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.143281926T>ACA361868462NR3C1c.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
5g.143281926T>CCA361868463NR3C1c.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
5g.143281926T>GCA361868464NR3C1c.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
5g.143281927T>ACA361868465NR3C1c.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
5g.143281927T>CCA3486683NR3C1c.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
5g.143281927T>GCA361868466NR3C1c.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
5g.143281928T>ACA446961845NR3C1c.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
5g.143281928T>CCA446961846NR3C1c.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
5g.143281928T>GCA446961847NR3C1c.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
5g.143281929G>ACA361868467NR3C1c.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
5g.143281929G>CCA361868468NR3C1c.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
5g.143281929G>TCA361868469NR3C1c.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
5g.143281930A>CCA361868470NR3C1c.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
5g.143281930A>GCA361868471NR3C1c.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
5g.143281930A>TCA361868472NR3C1c.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
5g.143281931A>CCA361868473NR3C1c.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
5g.143281931A>GCA446961848NR3C1c.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
5g.143281931A>TCA361868474NR3C1c.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
5g.143281932T>ACA361868475NR3C1c.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
5g.143281932T>CCA361868476NR3C1c.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
5g.143281932T>GCA361868477NR3C1c.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
5g.143281933A>CCA361868478NR3C1c.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
5g.143281933A>GCA361868479NR3C1c.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
5g.143281933A>TCA361868480NR3C1c.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
5g.143281934T>ACA361868482NR3C1c.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
5g.143281934T>CCA446961849NR3C1c.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
5g.143281934T>GCA361868481NR3C1c.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
5g.143281935T>ACA361868483NR3C1c.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
5g.143281935T>CCA361868484NR3C1c.2288A>G (p.Lys763Arg)
c.2195A>G (p.Lys732Arg)
c.2291A>G (p.Lys764Arg)
c.2181+633A>G (n.2181+633A>G)
c.2210A>G (p.Lys737Arg)
c.2033A>G (p.Lys678Arg)
c.2021A>G (p.Lys674Arg)
c.1997A>G (p.Lys666Arg)
c.1343A>G (p.Lys448Arg)
c.1298A>G (p.Lys433Arg)
c.1283A>G (p.Lys428Arg)
c.1097A>G (p.Lys366Arg)
n.656-2764T>C
n.1211A>G
dbSNP
5g.143281935T>GCA361868485NR3C1c.2288A>C (p.Lys763Thr)
c.2195A>C (p.Lys732Thr)
c.2291A>C (p.Lys764Thr)
c.2181+633A>C (n.2181+633A>C)
c.2210A>C (p.Lys737Thr)
c.2033A>C (p.Lys678Thr)
c.2021A>C (p.Lys674Thr)
c.1997A>C (p.Lys666Thr)
c.1343A>C (p.Lys448Thr)
c.1298A>C (p.Lys433Thr)
c.1283A>C (p.Lys428Thr)
c.1097A>C (p.Lys366Thr)
n.656-2764T>G
n.1211A>C
5g.143281936T>ACA361868486NR3C1c.2287A>T (p.Lys763Ter)
c.2194A>T (p.Lys732Ter)
c.2290A>T (p.Lys764Ter)
c.2181+632A>T (n.2181+632A>T)
c.2209A>T (p.Lys737Ter)
c.2032A>T (p.Lys678Ter)
c.2020A>T (p.Lys674Ter)
c.1996A>T (p.Lys666Ter)
c.1342A>T (p.Lys448Ter)
c.1297A>T (p.Lys433Ter)
c.1282A>T (p.Lys428Ter)
c.1096A>T (p.Lys366Ter)
n.656-2763T>A
n.1210A>T
5g.143281936T>CCA361868487NR3C1c.2287A>G (p.Lys763Glu)
c.2194A>G (p.Lys732Glu)
c.2290A>G (p.Lys764Glu)
c.2181+632A>G (n.2181+632A>G)
c.2209A>G (p.Lys737Glu)
c.2032A>G (p.Lys678Glu)
c.2020A>G (p.Lys674Glu)
c.1996A>G (p.Lys666Glu)
c.1342A>G (p.Lys448Glu)
c.1297A>G (p.Lys433Glu)
c.1282A>G (p.Lys428Glu)
c.1096A>G (p.Lys366Glu)
n.656-2763T>C
n.1210A>G
5g.143281936T>GCA361868488NR3C1c.2287A>C (p.Lys763Gln)
c.2194A>C (p.Lys732Gln)
c.2290A>C (p.Lys764Gln)
c.2181+632A>C (n.2181+632A>C)
c.2209A>C (p.Lys737Gln)
c.2032A>C (p.Lys678Gln)
c.2020A>C (p.Lys674Gln)
c.1996A>C (p.Lys666Gln)
c.1342A>C (p.Lys448Gln)
c.1297A>C (p.Lys433Gln)
c.1282A>C (p.Lys428Gln)
c.1096A>C (p.Lys366Gln)
n.656-2763T>G
n.1210A>C
5g.143281937T>ACA446961852NR3C1c.2286A>T (p.Pro762=)
c.2193A>T (p.Pro731=)
c.2289A>T (p.Pro763=)
c.2181+631A>T (n.2181+631A>T)
c.2208A>T (p.Pro736=)
c.2031A>T (p.Pro677=)
c.2019A>T (p.Pro673=)
c.1995A>T (p.Pro665=)
c.1341A>T (p.Pro447=)
c.1296A>T (p.Pro432=)
c.1281A>T (p.Pro427=)
c.1095A>T (p.Pro365=)
n.656-2762T>A
n.1209A>T
5g.143281937T>CCA446961850NR3C1c.2286A>G (p.Pro762=)
c.2193A>G (p.Pro731=)
c.2289A>G (p.Pro763=)
c.2181+631A>G (n.2181+631A>G)
c.2208A>G (p.Pro736=)
c.2031A>G (p.Pro677=)
c.2019A>G (p.Pro673=)
c.1995A>G (p.Pro665=)
c.1341A>G (p.Pro447=)
c.1296A>G (p.Pro432=)
c.1281A>G (p.Pro427=)
c.1095A>G (p.Pro365=)
n.656-2762T>C
n.1209A>G
5g.143281937T>GCA446961851NR3C1c.2286A>C (p.Pro762=)
c.2193A>C (p.Pro731=)
c.2289A>C (p.Pro763=)
c.2181+631A>C (n.2181+631A>C)
c.2208A>C (p.Pro736=)
c.2031A>C (p.Pro677=)
c.2019A>C (p.Pro673=)
c.1995A>C (p.Pro665=)
c.1341A>C (p.Pro447=)
c.1296A>C (p.Pro432=)
c.1281A>C (p.Pro427=)
c.1095A>C (p.Pro365=)
n.656-2762T>G
n.1209A>C
5g.143281938G>ACA361868489NR3C1c.2285C>T (p.Pro762Leu)
c.2192C>T (p.Pro731Leu)
c.2288C>T (p.Pro763Leu)
c.2181+630C>T (n.2181+630C>T)
c.2207C>T (p.Pro736Leu)
c.2030C>T (p.Pro677Leu)
c.2018C>T (p.Pro673Leu)
c.1994C>T (p.Pro665Leu)
c.1340C>T (p.Pro447Leu)
c.1295C>T (p.Pro432Leu)
c.1280C>T (p.Pro427Leu)
c.1094C>T (p.Pro365Leu)
n.656-2761G>A
n.1208C>T
5g.143281938G>CCA361868491NR3C1c.2285C>G (p.Pro762Arg)
c.2192C>G (p.Pro731Arg)
c.2288C>G (p.Pro763Arg)
c.2181+630C>G (n.2181+630C>G)
c.2207C>G (p.Pro736Arg)
c.2030C>G (p.Pro677Arg)
c.2018C>G (p.Pro673Arg)
c.1994C>G (p.Pro665Arg)
c.1340C>G (p.Pro447Arg)
c.1295C>G (p.Pro432Arg)
c.1280C>G (p.Pro427Arg)
c.1094C>G (p.Pro365Arg)
n.656-2761G>C
n.1208C>G
5g.143281938G>TCA361868490NR3C1c.2285C>A (p.Pro762Gln)
c.2192C>A (p.Pro731Gln)
c.2288C>A (p.Pro763Gln)
c.2181+630C>A (n.2181+630C>A)
c.2207C>A (p.Pro736Gln)
c.2030C>A (p.Pro677Gln)
c.2018C>A (p.Pro673Gln)
c.1994C>A (p.Pro665Gln)
c.1340C>A (p.Pro447Gln)
c.1295C>A (p.Pro432Gln)
c.1280C>A (p.Pro427Gln)
c.1094C>A (p.Pro365Gln)
n.656-2761G>T
n.1208C>A
5g.143281939G>ACA361868492NR3C1c.2284C>T (p.Pro762Ser)
c.2191C>T (p.Pro731Ser)
c.2287C>T (p.Pro763Ser)
c.2181+629C>T (n.2181+629C>T)
c.2206C>T (p.Pro736Ser)
c.2029C>T (p.Pro677Ser)
c.2017C>T (p.Pro673Ser)
c.1993C>T (p.Pro665Ser)
c.1339C>T (p.Pro447Ser)
c.1294C>T (p.Pro432Ser)
c.1279C>T (p.Pro427Ser)
c.1093C>T (p.Pro365Ser)
n.656-2760G>A
n.1207C>T
5g.143281939G>CCA361868493NR3C1c.2284C>G (p.Pro762Ala)
c.2191C>G (p.Pro731Ala)
c.2287C>G (p.Pro763Ala)
c.2181+629C>G (n.2181+629C>G)
c.2206C>G (p.Pro736Ala)
c.2029C>G (p.Pro677Ala)
c.2017C>G (p.Pro673Ala)
c.1993C>G (p.Pro665Ala)
c.1339C>G (p.Pro447Ala)
c.1294C>G (p.Pro432Ala)
c.1279C>G (p.Pro427Ala)
c.1093C>G (p.Pro365Ala)
n.656-2760G>C
n.1207C>G
5g.143281939G>TCA361868494NR3C1c.2284C>A (p.Pro762Thr)
c.2191C>A (p.Pro731Thr)
c.2287C>A (p.Pro763Thr)
c.2181+629C>A (n.2181+629C>A)
c.2206C>A (p.Pro736Thr)
c.2029C>A (p.Pro677Thr)
c.2017C>A (p.Pro673Thr)
c.1993C>A (p.Pro665Thr)
c.1339C>A (p.Pro447Thr)
c.1294C>A (p.Pro432Thr)
c.1279C>A (p.Pro427Thr)
c.1093C>A (p.Pro365Thr)
n.656-2760G>T
n.1207C>A
dbSNP gnomAD v3 gnomAD v4
5g.143281940T>ACA446961853NR3C1c.2283A>T (p.Ile761=)
c.2190A>T (p.Ile730=)
c.2286A>T (p.Ile762=)
c.2181+628A>T (n.2181+628A>T)
c.2205A>T (p.Ile735=)
c.2028A>T (p.Ile676=)
c.2016A>T (p.Ile672=)
c.1992A>T (p.Ile664=)
c.1338A>T (p.Ile446=)
c.1293A>T (p.Ile431=)
c.1278A>T (p.Ile426=)
c.1092A>T (p.Ile364=)
n.656-2759T>A
n.1206A>T
dbSNP gnomAD v3 gnomAD v4
5g.143281940T>CCA361868495NR3C1c.2283A>G (p.Ile761Met)
c.2190A>G (p.Ile730Met)
c.2286A>G (p.Ile762Met)
c.2181+628A>G (n.2181+628A>G)
c.2205A>G (p.Ile735Met)
c.2028A>G (p.Ile676Met)
c.2016A>G (p.Ile672Met)
c.1992A>G (p.Ile664Met)
c.1338A>G (p.Ile446Met)
c.1293A>G (p.Ile431Met)
c.1278A>G (p.Ile426Met)
c.1092A>G (p.Ile364Met)
n.656-2759T>C
n.1206A>G
5g.143281940T>GCA446961854NR3C1c.2283A>C (p.Ile761=)
c.2190A>C (p.Ile730=)
c.2286A>C (p.Ile762=)
c.2181+628A>C (n.2181+628A>C)
c.2205A>C (p.Ile735=)
c.2028A>C (p.Ile676=)
c.2016A>C (p.Ile672=)
c.1992A>C (p.Ile664=)
c.1338A>C (p.Ile446=)
c.1293A>C (p.Ile431=)
c.1278A>C (p.Ile426=)
c.1092A>C (p.Ile364=)
n.656-2759T>G
n.1206A>C
5g.143281941A>CCA361868496NR3C1c.2282T>G (p.Ile761Arg)
c.2189T>G (p.Ile730Arg)
c.2285T>G (p.Ile762Arg)
c.2181+627T>G (n.2181+627T>G)
c.2204T>G (p.Ile735Arg)
c.2027T>G (p.Ile676Arg)
c.2015T>G (p.Ile672Arg)
c.1991T>G (p.Ile664Arg)
c.1337T>G (p.Ile446Arg)
c.1292T>G (p.Ile431Arg)
c.1277T>G (p.Ile426Arg)
c.1091T>G (p.Ile364Arg)
n.656-2758A>C
n.1205T>G
5g.143281941A>GCA361868497NR3C1c.2282T>C (p.Ile761Thr)
c.2189T>C (p.Ile730Thr)
c.2285T>C (p.Ile762Thr)
c.2181+627T>C (n.2181+627T>C)
c.2204T>C (p.Ile735Thr)
c.2027T>C (p.Ile676Thr)
c.2015T>C (p.Ile672Thr)
c.1991T>C (p.Ile664Thr)
c.1337T>C (p.Ile446Thr)
c.1292T>C (p.Ile431Thr)
c.1277T>C (p.Ile426Thr)
c.1091T>C (p.Ile364Thr)
n.656-2758A>G
n.1205T>C
ClinVar dbSNP gnomAD v4
5g.143281941A>TCA361868498NR3C1c.2282T>A (p.Ile761Lys)
c.2189T>A (p.Ile730Lys)
c.2285T>A (p.Ile762Lys)
c.2181+627T>A (n.2181+627T>A)
c.2204T>A (p.Ile735Lys)
c.2027T>A (p.Ile676Lys)
c.2015T>A (p.Ile672Lys)
c.1991T>A (p.Ile664Lys)
c.1337T>A (p.Ile446Lys)
c.1292T>A (p.Ile431Lys)
c.1277T>A (p.Ile426Lys)
c.1091T>A (p.Ile364Lys)
n.656-2758A>T
n.1205T>A
5g.143281942T>ACA361868501NR3C1c.2281A>T (p.Ile761Leu)
c.2188A>T (p.Ile730Leu)
c.2284A>T (p.Ile762Leu)
c.2181+626A>T (n.2181+626A>T)
c.2203A>T (p.Ile735Leu)
c.2026A>T (p.Ile676Leu)
c.2014A>T (p.Ile672Leu)
c.1990A>T (p.Ile664Leu)
c.1336A>T (p.Ile446Leu)
c.1291A>T (p.Ile431Leu)
c.1276A>T (p.Ile426Leu)
c.1090A>T (p.Ile364Leu)
n.656-2757T>A
n.1204A>T
5g.143281942T>CCA361868499NR3C1c.2281A>G (p.Ile761Val)
c.2188A>G (p.Ile730Val)
c.2284A>G (p.Ile762Val)
c.2181+626A>G (n.2181+626A>G)
c.2203A>G (p.Ile735Val)
c.2026A>G (p.Ile676Val)
c.2014A>G (p.Ile672Val)
c.1990A>G (p.Ile664Val)
c.1336A>G (p.Ile446Val)
c.1291A>G (p.Ile431Val)
c.1276A>G (p.Ile426Val)
c.1090A>G (p.Ile364Val)
n.656-2757T>C
n.1204A>G
dbSNP
5g.143281942T>GCA361868500NR3C1c.2281A>C (p.Ile761Leu)
c.2188A>C (p.Ile730Leu)
c.2284A>C (p.Ile762Leu)
c.2181+626A>C (n.2181+626A>C)
c.2203A>C (p.Ile735Leu)
c.2026A>C (p.Ile676Leu)
c.2014A>C (p.Ile672Leu)
c.1990A>C (p.Ile664Leu)
c.1336A>C (p.Ile446Leu)
c.1291A>C (p.Ile431Leu)
c.1276A>C (p.Ile426Leu)
c.1090A>C (p.Ile364Leu)
n.656-2757T>G
n.1204A>C
gnomAD v4
5g.143281943C>ACA361868502NR3C1c.2280G>T (p.Gln760His)
c.2187G>T (p.Gln729His)
c.2283G>T (p.Gln761His)
c.2181+625G>T (n.2181+625G>T)
c.2202G>T (p.Gln734His)
c.2025G>T (p.Gln675His)
c.2013G>T (p.Gln671His)
c.1989G>T (p.Gln663His)
c.1335G>T (p.Gln445His)
c.1290G>T (p.Gln430His)
c.1275G>T (p.Gln425His)
c.1089G>T (p.Gln363His)
n.656-2756C>A
n.1203G>T
5g.143281943C>GCA361868503NR3C1c.2280G>C (p.Gln760His)
c.2187G>C (p.Gln729His)
c.2283G>C (p.Gln761His)
c.2181+625G>C (n.2181+625G>C)
c.2202G>C (p.Gln734His)
c.2025G>C (p.Gln675His)
c.2013G>C (p.Gln671His)
c.1989G>C (p.Gln663His)
c.1335G>C (p.Gln445His)
c.1290G>C (p.Gln430His)
c.1275G>C (p.Gln425His)
c.1089G>C (p.Gln363His)
n.656-2756C>G
n.1203G>C
5g.143281943C>TCA446961855NR3C1c.2280G>A (p.Gln760=)
c.2187G>A (p.Gln729=)
c.2283G>A (p.Gln761=)
c.2181+625G>A (n.2181+625G>A)
c.2202G>A (p.Gln734=)
c.2025G>A (p.Gln675=)
c.2013G>A (p.Gln671=)
c.1989G>A (p.Gln663=)
c.1335G>A (p.Gln445=)
c.1290G>A (p.Gln430=)
c.1275G>A (p.Gln425=)
c.1089G>A (p.Gln363=)
n.656-2756C>T
n.1203G>A
gnomAD v4
5g.143281944T>ACA361868504NR3C1c.2279A>T (p.Gln760Leu)
c.2186A>T (p.Gln729Leu)
c.2282A>T (p.Gln761Leu)
c.2181+624A>T (n.2181+624A>T)
c.2201A>T (p.Gln734Leu)
c.2024A>T (p.Gln675Leu)
c.2012A>T (p.Gln671Leu)
c.1988A>T (p.Gln663Leu)
c.1334A>T (p.Gln445Leu)
c.1289A>T (p.Gln430Leu)
c.1274A>T (p.Gln425Leu)
c.1088A>T (p.Gln363Leu)
n.656-2755T>A
n.1202A>T
5g.143281944T>CCA361868505NR3C1c.2279A>G (p.Gln760Arg)
c.2186A>G (p.Gln729Arg)
c.2282A>G (p.Gln761Arg)
c.2181+624A>G (n.2181+624A>G)
c.2201A>G (p.Gln734Arg)
c.2024A>G (p.Gln675Arg)
c.2012A>G (p.Gln671Arg)
c.1988A>G (p.Gln663Arg)
c.1334A>G (p.Gln445Arg)
c.1289A>G (p.Gln430Arg)
c.1274A>G (p.Gln425Arg)
c.1088A>G (p.Gln363Arg)
n.656-2755T>C
n.1202A>G
5g.143281944T>GCA361868506NR3C1c.2279A>C (p.Gln760Pro)
c.2186A>C (p.Gln729Pro)
c.2282A>C (p.Gln761Pro)
c.2181+624A>C (n.2181+624A>C)
c.2201A>C (p.Gln734Pro)
c.2024A>C (p.Gln675Pro)
c.2012A>C (p.Gln671Pro)
c.1988A>C (p.Gln663Pro)
c.1334A>C (p.Gln445Pro)
c.1289A>C (p.Gln430Pro)
c.1274A>C (p.Gln425Pro)
c.1088A>C (p.Gln363Pro)
n.656-2755T>G
n.1202A>C
5g.143281945G>ACA361868507NR3C1c.2278C>T (p.Gln760Ter)
c.2185C>T (p.Gln729Ter)
c.2281C>T (p.Gln761Ter)
c.2181+623C>T (n.2181+623C>T)
c.2200C>T (p.Gln734Ter)
c.2023C>T (p.Gln675Ter)
c.2011C>T (p.Gln671Ter)
c.1987C>T (p.Gln663Ter)
c.1333C>T (p.Gln445Ter)
c.1288C>T (p.Gln430Ter)
c.1273C>T (p.Gln425Ter)
c.1087C>T (p.Gln363Ter)
n.656-2754G>A
n.1201C>T
5g.143281945G>CCA361868509NR3C1c.2278C>G (p.Gln760Glu)
c.2185C>G (p.Gln729Glu)
c.2281C>G (p.Gln761Glu)
c.2181+623C>G (n.2181+623C>G)
c.2200C>G (p.Gln734Glu)
c.2023C>G (p.Gln675Glu)
c.2011C>G (p.Gln671Glu)
c.1987C>G (p.Gln663Glu)
c.1333C>G (p.Gln445Glu)
c.1288C>G (p.Gln430Glu)
c.1273C>G (p.Gln425Glu)
c.1087C>G (p.Gln363Glu)
n.656-2754G>C
n.1201C>G
5g.143281945G>TCA361868508NR3C1c.2278C>A (p.Gln760Lys)
c.2185C>A (p.Gln729Lys)
c.2281C>A (p.Gln761Lys)
c.2181+623C>A (n.2181+623C>A)
c.2200C>A (p.Gln734Lys)
c.2023C>A (p.Gln675Lys)
c.2011C>A (p.Gln671Lys)
c.1987C>A (p.Gln663Lys)
c.1333C>A (p.Gln445Lys)
c.1288C>A (p.Gln430Lys)
c.1273C>A (p.Gln425Lys)
c.1087C>A (p.Gln363Lys)
n.656-2754G>T
n.1201C>A
5g.143281946A>CCA361868510NR3C1c.2277T>G (p.Asn759Lys)
c.2184T>G (p.Asn728Lys)
c.2280T>G (p.Asn760Lys)
c.2181+622T>G (n.2181+622T>G)
c.2199T>G (p.Asn733Lys)
c.2022T>G (p.Asn674Lys)
c.2010T>G (p.Asn670Lys)
c.1986T>G (p.Asn662Lys)
c.1332T>G (p.Asn444Lys)
c.1287T>G (p.Asn429Lys)
c.1272T>G (p.Asn424Lys)
c.1086T>G (p.Asn362Lys)
n.656-2753A>C
n.1200T>G
5g.143281946A>GCA446961856NR3C1c.2277T>C (p.Asn759=)
c.2184T>C (p.Asn728=)
c.2280T>C (p.Asn760=)
c.2181+622T>C (n.2181+622T>C)
c.2199T>C (p.Asn733=)
c.2022T>C (p.Asn674=)
c.2010T>C (p.Asn670=)
c.1986T>C (p.Asn662=)
c.1332T>C (p.Asn444=)
c.1287T>C (p.Asn429=)
c.1272T>C (p.Asn424=)
c.1086T>C (p.Asn362=)
n.656-2753A>G
n.1200T>C
5g.143281946A>TCA361868511NR3C1c.2277T>A (p.Asn759Lys)
c.2184T>A (p.Asn728Lys)
c.2280T>A (p.Asn760Lys)
c.2181+622T>A (n.2181+622T>A)
c.2199T>A (p.Asn733Lys)
c.2022T>A (p.Asn674Lys)
c.2010T>A (p.Asn670Lys)
c.1986T>A (p.Asn662Lys)
c.1332T>A (p.Asn444Lys)
c.1287T>A (p.Asn429Lys)
c.1272T>A (p.Asn424Lys)
c.1086T>A (p.Asn362Lys)
n.656-2753A>T
n.1200T>A
5g.143281947T>ACA361868512NR3C1c.2276A>T (p.Asn759Ile)
c.2183A>T (p.Asn728Ile)
c.2279A>T (p.Asn760Ile)
c.2181+621A>T (n.2181+621A>T)
c.2198A>T (p.Asn733Ile)
c.2021A>T (p.Asn674Ile)
c.2009A>T (p.Asn670Ile)
c.1985A>T (p.Asn662Ile)
c.1331A>T (p.Asn444Ile)
c.1286A>T (p.Asn429Ile)
c.1271A>T (p.Asn424Ile)
c.1085A>T (p.Asn362Ile)
n.656-2752T>A
n.1199A>T
5g.143281947T>CCA3486684NR3C1c.2276A>G (p.Asn759Ser)
c.2183A>G (p.Asn728Ser)
c.2279A>G (p.Asn760Ser)
c.2181+621A>G (n.2181+621A>G)
c.2198A>G (p.Asn733Ser)
c.2021A>G (p.Asn674Ser)
c.2009A>G (p.Asn670Ser)
c.1985A>G (p.Asn662Ser)
c.1331A>G (p.Asn444Ser)
c.1286A>G (p.Asn429Ser)
c.1271A>G (p.Asn424Ser)
c.1085A>G (p.Asn362Ser)
n.656-2752T>C
n.1199A>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.143281947T>GCA361868513NR3C1c.2276A>C (p.Asn759Thr)
c.2183A>C (p.Asn728Thr)
c.2279A>C (p.Asn760Thr)
c.2181+621A>C (n.2181+621A>C)
c.2198A>C (p.Asn733Thr)
c.2021A>C (p.Asn674Thr)
c.2009A>C (p.Asn670Thr)
c.1985A>C (p.Asn662Thr)
c.1331A>C (p.Asn444Thr)
c.1286A>C (p.Asn429Thr)
c.1271A>C (p.Asn424Thr)
c.1085A>C (p.Asn362Thr)
n.656-2752T>G
n.1199A>C
5g.143281947T=CA2580591052NR3C1c.2276A= (p.Asn759=)
c.2183A= (p.Asn728=)
c.2279A= (p.Asn760=)
c.2181+621A= (n.2181+621A=)
c.2198A= (p.Asn733=)
c.2021A= (p.Asn674=)
c.2009A= (p.Asn670=)
c.1985A= (p.Asn662=)
c.1331A= (p.Asn444=)
c.1286A= (p.Asn429=)
c.1271A= (p.Asn424=)
c.1085A= (p.Asn362=)
n.656-2752T=
n.1199A=
5g.143281948delCA645567694NR3C1c.2276del (p.Asn759IlefsTer?)
c.2183del (p.Asn728IlefsTer?)
c.2279del (p.Asn760IlefsTer?)
c.2181+621del (n.2181+621del)
c.2198del (p.Asn733IlefsTer?)
c.2021del (p.Asn674IlefsTer?)
c.2009del (p.Asn670IlefsTer?)
c.1985del (p.Asn662IlefsTer?)
c.1331del (p.Asn444IlefsTer?)
c.1286del (p.Asn429IlefsTer?)
c.1271del (p.Asn424IlefsTer?)
c.1085del (p.Asn362IlefsTer?)
n.656-2751del
n.1199del
COSMIC
5g.143281948T>ACA361868514NR3C1c.2275A>T (p.Asn759Tyr)
c.2182A>T (p.Asn728Tyr)
c.2278A>T (p.Asn760Tyr)
c.2181+620A>T (n.2181+620A>T)
c.2197A>T (p.Asn733Tyr)
c.2020A>T (p.Asn674Tyr)
c.2008A>T (p.Asn670Tyr)
c.1984A>T (p.Asn662Tyr)
c.1330A>T (p.Asn444Tyr)
c.1285A>T (p.Asn429Tyr)
c.1270A>T (p.Asn424Tyr)
c.1084A>T (p.Asn362Tyr)
n.656-2751T>A
n.1198A>T
5g.143281948T>CCA361868515NR3C1c.2275A>G (p.Asn759Asp)
c.2182A>G (p.Asn728Asp)
c.2278A>G (p.Asn760Asp)
c.2181+620A>G (n.2181+620A>G)
c.2197A>G (p.Asn733Asp)
c.2020A>G (p.Asn674Asp)
c.2008A>G (p.Asn670Asp)
c.1984A>G (p.Asn662Asp)
c.1330A>G (p.Asn444Asp)
c.1285A>G (p.Asn429Asp)
c.1270A>G (p.Asn424Asp)
c.1084A>G (p.Asn362Asp)
n.656-2751T>C
n.1198A>G
dbSNP gnomAD v3 gnomAD v4
5g.143281948T>GCA361868516NR3C1c.2275A>C (p.Asn759His)
c.2182A>C (p.Asn728His)
c.2278A>C (p.Asn760His)
c.2181+620A>C (n.2181+620A>C)
c.2197A>C (p.Asn733His)
c.2020A>C (p.Asn674His)
c.2008A>C (p.Asn670His)
c.1984A>C (p.Asn662His)
c.1330A>C (p.Asn444His)
c.1285A>C (p.Asn429His)
c.1270A>C (p.Asn424His)
c.1084A>C (p.Asn362His)
n.656-2751T>G
n.1198A>C
5g.143281949G>ACA446961858NR3C1c.2274C>T (p.Thr758=)
c.2181C>T (p.Thr727=)
c.2277C>T (p.Thr759=)
c.2181+619C>T (n.2181+619C>T)
c.2196C>T (p.Thr732=)
c.2019C>T (p.Thr673=)
c.2007C>T (p.Thr669=)
c.1983C>T (p.Thr661=)
c.1329C>T (p.Thr443=)
c.1284C>T (p.Thr428=)
c.1269C>T (p.Thr423=)
c.1083C>T (p.Thr361=)
n.656-2750G>A
n.1197C>T
dbSNP gnomAD v3 gnomAD v4
5g.143281949G>CCA446961859NR3C1c.2274C>G (p.Thr758=)
c.2181C>G (p.Thr727=)
c.2277C>G (p.Thr759=)
c.2181+619C>G (n.2181+619C>G)
c.2196C>G (p.Thr732=)
c.2019C>G (p.Thr673=)
c.2007C>G (p.Thr669=)
c.1983C>G (p.Thr661=)
c.1329C>G (p.Thr443=)
c.1284C>G (p.Thr428=)
c.1269C>G (p.Thr423=)
c.1083C>G (p.Thr361=)
n.656-2750G>C
n.1197C>G
gnomAD v4
5g.143281949G>TCA446961860NR3C1c.2274C>A (p.Thr758=)
c.2181C>A (p.Thr727=)
c.2277C>A (p.Thr759=)
c.2181+619C>A (n.2181+619C>A)
c.2196C>A (p.Thr732=)
c.2019C>A (p.Thr673=)
c.2007C>A (p.Thr669=)
c.1983C>A (p.Thr661=)
c.1329C>A (p.Thr443=)
c.1284C>A (p.Thr428=)
c.1269C>A (p.Thr423=)
c.1083C>A (p.Thr361=)
n.656-2750G>T
n.1197C>A
5g.143281950G>ACA361868517NR3C1c.2273C>T (p.Thr758Ile)
c.2180C>T (p.Thr727Ile)
c.2276C>T (p.Thr759Ile)
c.2181+618C>T (n.2181+618C>T)
c.2195C>T (p.Thr732Ile)
c.2018C>T (p.Thr673Ile)
c.2006C>T (p.Thr669Ile)
c.1982C>T (p.Thr661Ile)
c.1328C>T (p.Thr443Ile)
c.1283C>T (p.Thr428Ile)
c.1268C>T (p.Thr423Ile)
c.1082C>T (p.Thr361Ile)
n.656-2749G>A
n.1196C>T
5g.143281950G>CCA361868518NR3C1c.2273C>G (p.Thr758Ser)
c.2180C>G (p.Thr727Ser)
c.2276C>G (p.Thr759Ser)
c.2181+618C>G (n.2181+618C>G)
c.2195C>G (p.Thr732Ser)
c.2018C>G (p.Thr673Ser)
c.2006C>G (p.Thr669Ser)
c.1982C>G (p.Thr661Ser)
c.1328C>G (p.Thr443Ser)
c.1283C>G (p.Thr428Ser)
c.1268C>G (p.Thr423Ser)
c.1082C>G (p.Thr361Ser)
n.656-2749G>C
n.1196C>G
5g.143281950G>TCA361868519NR3C1c.2273C>A (p.Thr758Asn)
c.2180C>A (p.Thr727Asn)
c.2276C>A (p.Thr759Asn)
c.2181+618C>A (n.2181+618C>A)
c.2195C>A (p.Thr732Asn)
c.2018C>A (p.Thr673Asn)
c.2006C>A (p.Thr669Asn)
c.1982C>A (p.Thr661Asn)
c.1328C>A (p.Thr443Asn)
c.1283C>A (p.Thr428Asn)
c.1268C>A (p.Thr423Asn)
c.1082C>A (p.Thr361Asn)
n.656-2749G>T
n.1196C>A
5g.143281951T>ACA361868520NR3C1c.2272A>T (p.Thr758Ser)
c.2179A>T (p.Thr727Ser)
c.2275A>T (p.Thr759Ser)
c.2181+617A>T (n.2181+617A>T)
c.2194A>T (p.Thr732Ser)
c.2017A>T (p.Thr673Ser)
c.2005A>T (p.Thr669Ser)
c.1981A>T (p.Thr661Ser)
c.1327A>T (p.Thr443Ser)
c.1282A>T (p.Thr428Ser)
c.1267A>T (p.Thr423Ser)
c.1081A>T (p.Thr361Ser)
n.656-2748T>A
n.1195A>T
dbSNP gnomAD v2 gnomAD v4
5g.143281951T>CCA361868522NR3C1c.2272A>G (p.Thr758Ala)
c.2179A>G (p.Thr727Ala)
c.2275A>G (p.Thr759Ala)
c.2181+617A>G (n.2181+617A>G)
c.2194A>G (p.Thr732Ala)
c.2017A>G (p.Thr673Ala)
c.2005A>G (p.Thr669Ala)
c.1981A>G (p.Thr661Ala)
c.1327A>G (p.Thr443Ala)
c.1282A>G (p.Thr428Ala)
c.1267A>G (p.Thr423Ala)
c.1081A>G (p.Thr361Ala)
n.656-2748T>C
n.1195A>G
5g.143281951T>GCA361868521NR3C1c.2272A>C (p.Thr758Pro)
c.2179A>C (p.Thr727Pro)
c.2275A>C (p.Thr759Pro)
c.2181+617A>C (n.2181+617A>C)
c.2194A>C (p.Thr732Pro)
c.2017A>C (p.Thr673Pro)
c.2005A>C (p.Thr669Pro)
c.1981A>C (p.Thr661Pro)
c.1327A>C (p.Thr443Pro)
c.1282A>C (p.Thr428Pro)
c.1267A>C (p.Thr423Pro)
c.1081A>C (p.Thr361Pro)
n.656-2748T>G
n.1195A>C
5g.143281952G>ACA3486685NR3C1c.2271C>T (p.Ile757=)
c.2178C>T (p.Ile726=)
c.2274C>T (p.Ile758=)
c.2181+616C>T (n.2181+616C>T)
c.2193C>T (p.Ile731=)
c.2016C>T (p.Ile672=)
c.2004C>T (p.Ile668=)
c.1980C>T (p.Ile660=)
c.1326C>T (p.Ile442=)
c.1281C>T (p.Ile427=)
c.1266C>T (p.Ile422=)
c.1080C>T (p.Ile360=)
n.656-2747G>A
n.1194C>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.143281952G>CCA361868523NR3C1c.2271C>G (p.Ile757Met)
c.2178C>G (p.Ile726Met)
c.2274C>G (p.Ile758Met)
c.2181+616C>G (n.2181+616C>G)
c.2193C>G (p.Ile731Met)
c.2016C>G (p.Ile672Met)
c.2004C>G (p.Ile668Met)
c.1980C>G (p.Ile660Met)
c.1326C>G (p.Ile442Met)
c.1281C>G (p.Ile427Met)
c.1266C>G (p.Ile422Met)
c.1080C>G (p.Ile360Met)
n.656-2747G>C
n.1194C>G
5g.143281952G>TCA446961861NR3C1c.2271C>A (p.Ile757=)
c.2178C>A (p.Ile726=)
c.2274C>A (p.Ile758=)
c.2181+616C>A (n.2181+616C>A)
c.2193C>A (p.Ile731=)
c.2016C>A (p.Ile672=)
c.2004C>A (p.Ile668=)
c.1980C>A (p.Ile660=)
c.1326C>A (p.Ile442=)
c.1281C>A (p.Ile427=)
c.1266C>A (p.Ile422=)
c.1080C>A (p.Ile360=)
n.656-2747G>T
n.1194C>A
5g.143281953A>CCA361868524NR3C1c.2270T>G (p.Ile757Ser)
c.2177T>G (p.Ile726Ser)
c.2273T>G (p.Ile758Ser)
c.2181+615T>G (n.2181+615T>G)
c.2192T>G (p.Ile731Ser)
c.2015T>G (p.Ile672Ser)
c.2003T>G (p.Ile668Ser)
c.1979T>G (p.Ile660Ser)
c.1325T>G (p.Ile442Ser)
c.1280T>G (p.Ile427Ser)
c.1265T>G (p.Ile422Ser)
c.1079T>G (p.Ile360Ser)
n.656-2746A>C
n.1193T>G
5g.143281953A>GCA361868525NR3C1c.2270T>C (p.Ile757Thr)
c.2177T>C (p.Ile726Thr)
c.2273T>C (p.Ile758Thr)
c.2181+615T>C (n.2181+615T>C)
c.2192T>C (p.Ile731Thr)
c.2015T>C (p.Ile672Thr)
c.2003T>C (p.Ile668Thr)
c.1979T>C (p.Ile660Thr)
c.1325T>C (p.Ile442Thr)
c.1280T>C (p.Ile427Thr)
c.1265T>C (p.Ile422Thr)
c.1079T>C (p.Ile360Thr)
n.656-2746A>G
n.1193T>C
5g.143281953A>TCA361868526NR3C1c.2270T>A (p.Ile757Asn)
c.2177T>A (p.Ile726Asn)
c.2273T>A (p.Ile758Asn)
c.2181+615T>A (n.2181+615T>A)
c.2192T>A (p.Ile731Asn)
c.2015T>A (p.Ile672Asn)
c.2003T>A (p.Ile668Asn)
c.1979T>A (p.Ile660Asn)
c.1325T>A (p.Ile442Asn)
c.1280T>A (p.Ile427Asn)
c.1265T>A (p.Ile422Asn)
c.1079T>A (p.Ile360Asn)
n.656-2746A>T
n.1193T>A
5g.143281954T>ACA361868527NR3C1c.2269A>T (p.Ile757Phe)
c.2176A>T (p.Ile726Phe)
c.2272A>T (p.Ile758Phe)
c.2181+614A>T (n.2181+614A>T)
c.2191A>T (p.Ile731Phe)
c.2014A>T (p.Ile672Phe)
c.2002A>T (p.Ile668Phe)
c.1978A>T (p.Ile660Phe)
c.1324A>T (p.Ile442Phe)
c.1279A>T (p.Ile427Phe)
c.1264A>T (p.Ile422Phe)
c.1078A>T (p.Ile360Phe)
n.656-2745T>A
n.1192A>T
5g.143281954T>CCA361868528NR3C1c.2269A>G (p.Ile757Val)
c.2176A>G (p.Ile726Val)
c.2272A>G (p.Ile758Val)
c.2181+614A>G (n.2181+614A>G)
c.2191A>G (p.Ile731Val)
c.2014A>G (p.Ile672Val)
c.2002A>G (p.Ile668Val)
c.1978A>G (p.Ile660Val)
c.1324A>G (p.Ile442Val)
c.1279A>G (p.Ile427Val)
c.1264A>G (p.Ile422Val)
c.1078A>G (p.Ile360Val)
n.656-2745T>C
n.1192A>G
5g.143281954T>GCA361868529NR3C1c.2269A>C (p.Ile757Leu)
c.2176A>C (p.Ile726Leu)
c.2272A>C (p.Ile758Leu)
c.2181+614A>C (n.2181+614A>C)
c.2191A>C (p.Ile731Leu)
c.2014A>C (p.Ile672Leu)
c.2002A>C (p.Ile668Leu)
c.1978A>C (p.Ile660Leu)
c.1324A>C (p.Ile442Leu)
c.1279A>C (p.Ile427Leu)
c.1264A>C (p.Ile422Leu)
c.1078A>C (p.Ile360Leu)
n.656-2745T>G
n.1192A>C
5g.143281955G>ACA446961862NR3C1c.2268C>T (p.Ile756=)
c.2175C>T (p.Ile725=)
c.2271C>T (p.Ile757=)
c.2181+613C>T (n.2181+613C>T)
c.2190C>T (p.Ile730=)
c.2013C>T (p.Ile671=)
c.2001C>T (p.Ile667=)
c.1977C>T (p.Ile659=)
c.1323C>T (p.Ile441=)
c.1278C>T (p.Ile426=)
c.1263C>T (p.Ile421=)
c.1077C>T (p.Ile359=)
n.656-2744G>A
n.1191C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.143281955G>CCA361868530NR3C1c.2268C>G (p.Ile756Met)
c.2175C>G (p.Ile725Met)
c.2271C>G (p.Ile757Met)
c.2181+613C>G (n.2181+613C>G)
c.2190C>G (p.Ile730Met)
c.2013C>G (p.Ile671Met)
c.2001C>G (p.Ile667Met)
c.1977C>G (p.Ile659Met)
c.1323C>G (p.Ile441Met)
c.1278C>G (p.Ile426Met)
c.1263C>G (p.Ile421Met)
c.1077C>G (p.Ile359Met)
n.656-2744G>C
n.1191C>G
5g.143281955G>TCA446961863NR3C1c.2268C>A (p.Ile756=)
c.2175C>A (p.Ile725=)
c.2271C>A (p.Ile757=)
c.2181+613C>A (n.2181+613C>A)
c.2190C>A (p.Ile730=)
c.2013C>A (p.Ile671=)
c.2001C>A (p.Ile667=)
c.1977C>A (p.Ile659=)
c.1323C>A (p.Ile441=)
c.1278C>A (p.Ile426=)
c.1263C>A (p.Ile421=)
c.1077C>A (p.Ile359=)
n.656-2744G>T
n.1191C>A
gnomAD v4
5g.143281956A>CCA361868531NR3C1c.2267T>G (p.Ile756Ser)
c.2174T>G (p.Ile725Ser)
c.2270T>G (p.Ile757Ser)
c.2181+612T>G (n.2181+612T>G)
c.2189T>G (p.Ile730Ser)
c.2012T>G (p.Ile671Ser)
c.2000T>G (p.Ile667Ser)
c.1976T>G (p.Ile659Ser)
c.1322T>G (p.Ile441Ser)
c.1277T>G (p.Ile426Ser)
c.1262T>G (p.Ile421Ser)
c.1076T>G (p.Ile359Ser)
n.656-2743A>C
n.1190T>G
5g.143281956A>GCA361868532NR3C1c.2267T>C (p.Ile756Thr)
c.2174T>C (p.Ile725Thr)
c.2270T>C (p.Ile757Thr)
c.2181+612T>C (n.2181+612T>C)
c.2189T>C (p.Ile730Thr)
c.2012T>C (p.Ile671Thr)
c.2000T>C (p.Ile667Thr)
c.1976T>C (p.Ile659Thr)
c.1322T>C (p.Ile441Thr)
c.1277T>C (p.Ile426Thr)
c.1262T>C (p.Ile421Thr)
c.1076T>C (p.Ile359Thr)
n.656-2743A>G
n.1190T>C
gnomAD v4
5g.143281956A>TCA361868533NR3C1c.2267T>A (p.Ile756Asn)
c.2174T>A (p.Ile725Asn)
c.2270T>A (p.Ile757Asn)
c.2181+612T>A (n.2181+612T>A)
c.2189T>A (p.Ile730Asn)
c.2012T>A (p.Ile671Asn)
c.2000T>A (p.Ile667Asn)
c.1976T>A (p.Ile659Asn)
c.1322T>A (p.Ile441Asn)
c.1277T>A (p.Ile426Asn)
c.1262T>A (p.Ile421Asn)
c.1076T>A (p.Ile359Asn)
n.656-2743A>T
n.1190T>A
5g.143281957T>ACA361868534NR3C1c.2266A>T (p.Ile756Phe)
c.2173A>T (p.Ile725Phe)
c.2269A>T (p.Ile757Phe)
c.2181+611A>T (n.2181+611A>T)
c.2188A>T (p.Ile730Phe)
c.2011A>T (p.Ile671Phe)
c.1999A>T (p.Ile667Phe)
c.1975A>T (p.Ile659Phe)
c.1321A>T (p.Ile441Phe)
c.1276A>T (p.Ile426Phe)
c.1261A>T (p.Ile421Phe)
c.1075A>T (p.Ile359Phe)
n.656-2742T>A
n.1189A>T
5g.143281957T>CCA361868535NR3C1c.2266A>G (p.Ile756Val)
c.2173A>G (p.Ile725Val)
c.2269A>G (p.Ile757Val)
c.2181+611A>G (n.2181+611A>G)
c.2188A>G (p.Ile730Val)
c.2011A>G (p.Ile671Val)
c.1999A>G (p.Ile667Val)
c.1975A>G (p.Ile659Val)
c.1321A>G (p.Ile441Val)
c.1276A>G (p.Ile426Val)
c.1261A>G (p.Ile421Val)
c.1075A>G (p.Ile359Val)
n.656-2742T>C
n.1189A>G
gnomAD v4
5g.143281957T>GCA361868536NR3C1c.2266A>C (p.Ile756Leu)
c.2173A>C (p.Ile725Leu)
c.2269A>C (p.Ile757Leu)
c.2181+611A>C (n.2181+611A>C)
c.2188A>C (p.Ile730Leu)
c.2011A>C (p.Ile671Leu)
c.1999A>C (p.Ile667Leu)
c.1975A>C (p.Ile659Leu)
c.1321A>C (p.Ile441Leu)
c.1276A>C (p.Ile426Leu)
c.1261A>C (p.Ile421Leu)
c.1075A>C (p.Ile359Leu)
n.656-2742T>G
n.1189A>C
5g.143281958T>ACA361868537NR3C1c.2265A>T (p.Glu755Asp)
c.2172A>T (p.Glu724Asp)
c.2268A>T (p.Glu756Asp)
c.2181+610A>T (n.2181+610A>T)
c.2187A>T (p.Glu729Asp)
c.2010A>T (p.Glu670Asp)
c.1998A>T (p.Glu666Asp)
c.1974A>T (p.Glu658Asp)
c.1320A>T (p.Glu440Asp)
c.1275A>T (p.Glu425Asp)
c.1260A>T (p.Glu420Asp)
c.1074A>T (p.Glu358Asp)
n.656-2741T>A
n.1188A>T
5g.143281958T>CCA446961864NR3C1c.2265A>G (p.Glu755=)
c.2172A>G (p.Glu724=)
c.2268A>G (p.Glu756=)
c.2181+610A>G (n.2181+610A>G)
c.2187A>G (p.Glu729=)
c.2010A>G (p.Glu670=)
c.1998A>G (p.Glu666=)
c.1974A>G (p.Glu658=)
c.1320A>G (p.Glu440=)
c.1275A>G (p.Glu425=)
c.1260A>G (p.Glu420=)
c.1074A>G (p.Glu358=)
n.656-2741T>C
n.1188A>G
5g.143281958T>GCA361868538NR3C1c.2265A>C (p.Glu755Asp)
c.2172A>C (p.Glu724Asp)
c.2268A>C (p.Glu756Asp)
c.2181+610A>C (n.2181+610A>C)
c.2187A>C (p.Glu729Asp)
c.2010A>C (p.Glu670Asp)
c.1998A>C (p.Glu666Asp)
c.1974A>C (p.Glu658Asp)
c.1320A>C (p.Glu440Asp)
c.1275A>C (p.Glu425Asp)
c.1260A>C (p.Glu420Asp)
c.1074A>C (p.Glu358Asp)
n.656-2741T>G
n.1188A>C
5g.143281959T>ACA361868539NR3C1c.2264A>T (p.Glu755Val)
c.2171A>T (p.Glu724Val)
c.2267A>T (p.Glu756Val)
c.2181+609A>T (n.2181+609A>T)
c.2186A>T (p.Glu729Val)
c.2009A>T (p.Glu670Val)
c.1997A>T (p.Glu666Val)
c.1973A>T (p.Glu658Val)
c.1319A>T (p.Glu440Val)
c.1274A>T (p.Glu425Val)
c.1259A>T (p.Glu420Val)
c.1073A>T (p.Glu358Val)
n.656-2740T>A
n.1187A>T
dbSNP gnomAD v2 gnomAD v4
5g.143281959T>CCA361868540NR3C1c.2264A>G (p.Glu755Gly)
c.2171A>G (p.Glu724Gly)
c.2267A>G (p.Glu756Gly)
c.2181+609A>G (n.2181+609A>G)
c.2186A>G (p.Glu729Gly)
c.2009A>G (p.Glu670Gly)
c.1997A>G (p.Glu666Gly)
c.1973A>G (p.Glu658Gly)
c.1319A>G (p.Glu440Gly)
c.1274A>G (p.Glu425Gly)
c.1259A>G (p.Glu420Gly)
c.1073A>G (p.Glu358Gly)
n.656-2740T>C
n.1187A>G
5g.143281959T>GCA361868541NR3C1c.2264A>C (p.Glu755Ala)
c.2171A>C (p.Glu724Ala)
c.2267A>C (p.Glu756Ala)
c.2181+609A>C (n.2181+609A>C)
c.2186A>C (p.Glu729Ala)
c.2009A>C (p.Glu670Ala)
c.1997A>C (p.Glu666Ala)
c.1973A>C (p.Glu658Ala)
c.1319A>C (p.Glu440Ala)
c.1274A>C (p.Glu425Ala)
c.1259A>C (p.Glu420Ala)
c.1073A>C (p.Glu358Ala)
n.656-2740T>G
n.1187A>C
5g.143281960C>ACA361868542NR3C1c.2263G>T (p.Glu755Ter)
c.2170G>T (p.Glu724Ter)
c.2266G>T (p.Glu756Ter)
c.2181+608G>T (n.2181+608G>T)
c.2185G>T (p.Glu729Ter)
c.2008G>T (p.Glu670Ter)
c.1996G>T (p.Glu666Ter)
c.1972G>T (p.Glu658Ter)
c.1318G>T (p.Glu440Ter)
c.1273G>T (p.Glu425Ter)
c.1258G>T (p.Glu420Ter)
c.1072G>T (p.Glu358Ter)
n.656-2739C>A
n.1186G>T
5g.143281960C>GCA361868543NR3C1c.2263G>C (p.Glu755Gln)
c.2170G>C (p.Glu724Gln)
c.2266G>C (p.Glu756Gln)
c.2181+608G>C (n.2181+608G>C)
c.2185G>C (p.Glu729Gln)
c.2008G>C (p.Glu670Gln)
c.1996G>C (p.Glu666Gln)
c.1972G>C (p.Glu658Gln)
c.1318G>C (p.Glu440Gln)
c.1273G>C (p.Glu425Gln)
c.1258G>C (p.Glu420Gln)
c.1072G>C (p.Glu358Gln)
n.656-2739C>G
n.1186G>C
5g.143281960C>TCA361868544NR3C1c.2263G>A (p.Glu755Lys)
c.2170G>A (p.Glu724Lys)
c.2266G>A (p.Glu756Lys)
c.2181+608G>A (n.2181+608G>A)
c.2185G>A (p.Glu729Lys)
c.2008G>A (p.Glu670Lys)
c.1996G>A (p.Glu666Lys)
c.1972G>A (p.Glu658Lys)
c.1318G>A (p.Glu440Lys)
c.1273G>A (p.Glu425Lys)
c.1258G>A (p.Glu420Lys)
c.1072G>A (p.Glu358Lys)
n.656-2739C>T
n.1186G>A
5g.143281961A>CCA446961867NR3C1c.2262T>G (p.Ala754=)
c.2169T>G (p.Ala723=)
c.2265T>G (p.Ala755=)
c.2181+607T>G (n.2181+607T>G)
c.2184T>G (p.Ala728=)
c.2007T>G (p.Ala669=)
c.1995T>G (p.Ala665=)
c.1971T>G (p.Ala657=)
c.1317T>G (p.Ala439=)
c.1272T>G (p.Ala424=)
c.1257T>G (p.Ala419=)
c.1071T>G (p.Ala357=)
n.656-2738A>C
n.1185T>G
5g.143281961A>GCA446961866NR3C1c.2262T>C (p.Ala754=)
c.2169T>C (p.Ala723=)
c.2265T>C (p.Ala755=)
c.2181+607T>C (n.2181+607T>C)
c.2184T>C (p.Ala728=)
c.2007T>C (p.Ala669=)
c.1995T>C (p.Ala665=)
c.1971T>C (p.Ala657=)
c.1317T>C (p.Ala439=)
c.1272T>C (p.Ala424=)
c.1257T>C (p.Ala419=)
c.1071T>C (p.Ala357=)
n.656-2738A>G
n.1185T>C
5g.143281961A>TCA446961865NR3C1c.2262T>A (p.Ala754=)
c.2169T>A (p.Ala723=)
c.2265T>A (p.Ala755=)
c.2181+607T>A (n.2181+607T>A)
c.2184T>A (p.Ala728=)
c.2007T>A (p.Ala669=)
c.1995T>A (p.Ala665=)
c.1971T>A (p.Ala657=)
c.1317T>A (p.Ala439=)
c.1272T>A (p.Ala424=)
c.1257T>A (p.Ala419=)
c.1071T>A (p.Ala357=)
n.656-2738A>T
n.1185T>A
5g.143281962G>ACA361868545NR3C1c.2261C>T (p.Ala754Val)
c.2168C>T (p.Ala723Val)
c.2264C>T (p.Ala755Val)
c.2181+606C>T (n.2181+606C>T)
c.2183C>T (p.Ala728Val)
c.2006C>T (p.Ala669Val)
c.1994C>T (p.Ala665Val)
c.1970C>T (p.Ala657Val)
c.1316C>T (p.Ala439Val)
c.1271C>T (p.Ala424Val)
c.1256C>T (p.Ala419Val)
c.1070C>T (p.Ala357Val)
n.656-2737G>A
n.1184C>T
5g.143281962G>CCA361868546NR3C1c.2261C>G (p.Ala754Gly)
c.2168C>G (p.Ala723Gly)
c.2264C>G (p.Ala755Gly)
c.2181+606C>G (n.2181+606C>G)
c.2183C>G (p.Ala728Gly)
c.2006C>G (p.Ala669Gly)
c.1994C>G (p.Ala665Gly)
c.1970C>G (p.Ala657Gly)
c.1316C>G (p.Ala439Gly)
c.1271C>G (p.Ala424Gly)
c.1256C>G (p.Ala419Gly)
c.1070C>G (p.Ala357Gly)
n.656-2737G>C
n.1184C>G
5g.143281962G>TCA361868547NR3C1c.2261C>A (p.Ala754Asp)
c.2168C>A (p.Ala723Asp)
c.2264C>A (p.Ala755Asp)
c.2181+606C>A (n.2181+606C>A)
c.2183C>A (p.Ala728Asp)
c.2006C>A (p.Ala669Asp)
c.1994C>A (p.Ala665Asp)
c.1970C>A (p.Ala657Asp)
c.1316C>A (p.Ala439Asp)
c.1271C>A (p.Ala424Asp)
c.1256C>A (p.Ala419Asp)
c.1070C>A (p.Ala357Asp)
n.656-2737G>T
n.1184C>A
5g.143281963C>ACA361868548NR3C1c.2260G>T (p.Ala754Ser)
c.2167G>T (p.Ala723Ser)
c.2263G>T (p.Ala755Ser)
c.2181+605G>T (n.2181+605G>T)
c.2182G>T (p.Ala728Ser)
c.2005G>T (p.Ala669Ser)
c.1993G>T (p.Ala665Ser)
c.1969G>T (p.Ala657Ser)
c.1315G>T (p.Ala439Ser)
c.1270G>T (p.Ala424Ser)
c.1255G>T (p.Ala419Ser)
c.1069G>T (p.Ala357Ser)
n.656-2736C>A
n.1183G>T
5g.143281963C>GCA361868549NR3C1c.2260G>C (p.Ala754Pro)
c.2167G>C (p.Ala723Pro)
c.2263G>C (p.Ala755Pro)
c.2181+605G>C (n.2181+605G>C)
c.2182G>C (p.Ala728Pro)
c.2005G>C (p.Ala669Pro)
c.1993G>C (p.Ala665Pro)
c.1969G>C (p.Ala657Pro)
c.1315G>C (p.Ala439Pro)
c.1270G>C (p.Ala424Pro)
c.1255G>C (p.Ala419Pro)
c.1069G>C (p.Ala357Pro)
n.656-2736C>G
n.1183G>C
5g.143281963C>TCA361868550NR3C1c.2260G>A (p.Ala754Thr)
c.2167G>A (p.Ala723Thr)
c.2263G>A (p.Ala755Thr)
c.2181+605G>A (n.2181+605G>A)
c.2182G>A (p.Ala728Thr)
c.2005G>A (p.Ala669Thr)
c.1993G>A (p.Ala665Thr)
c.1969G>A (p.Ala657Thr)
c.1315G>A (p.Ala439Thr)
c.1270G>A (p.Ala424Thr)
c.1255G>A (p.Ala419Thr)
c.1069G>A (p.Ala357Thr)
n.656-2736C>T
n.1183G>A
5g.143281964T>ACA126221NR3C1c.2259A>T (p.Leu753Phe)
c.2166A>T (p.Leu722Phe)
c.2262A>T (p.Leu754Phe)
c.2181+604A>T (n.2181+604A>T)
c.2181A>T (p.Leu727Phe)
c.2004A>T (p.Leu668Phe)
c.1992A>T (p.Leu664Phe)
c.1968A>T (p.Leu656Phe)
c.1314A>T (p.Leu438Phe)
c.1269A>T (p.Leu423Phe)
c.1254A>T (p.Leu418Phe)
c.1068A>T (p.Leu356Phe)
n.656-2735T>A
n.1182A>T
ClinVar dbSNP COSMIC
5g.143281964T>CCA446961868NR3C1c.2259A>G (p.Leu753=)
c.2166A>G (p.Leu722=)
c.2262A>G (p.Leu754=)
c.2181+604A>G (n.2181+604A>G)
c.2181A>G (p.Leu727=)
c.2004A>G (p.Leu668=)
c.1992A>G (p.Leu664=)
c.1968A>G (p.Leu656=)
c.1314A>G (p.Leu438=)
c.1269A>G (p.Leu423=)
c.1254A>G (p.Leu418=)
c.1068A>G (p.Leu356=)
n.656-2735T>C
n.1182A>G
5g.143281964T>GCA361868551NR3C1c.2259A>C (p.Leu753Phe)
c.2166A>C (p.Leu722Phe)
c.2262A>C (p.Leu754Phe)
c.2181+604A>C (n.2181+604A>C)
c.2181A>C (p.Leu727Phe)
c.2004A>C (p.Leu668Phe)
c.1992A>C (p.Leu664Phe)
c.1968A>C (p.Leu656Phe)
c.1314A>C (p.Leu438Phe)
c.1269A>C (p.Leu423Phe)
c.1254A>C (p.Leu418Phe)
c.1068A>C (p.Leu356Phe)
n.656-2735T>G
n.1182A>C
5g.143281964T=CA2581520110NR3C1c.2259A= (p.Leu753=)
c.2166A= (p.Leu722=)
c.2262A= (p.Leu754=)
c.2181+604A= (n.2181+604A=)
c.2181A= (p.Leu727=)
c.2004A= (p.Leu668=)
c.1992A= (p.Leu664=)
c.1968A= (p.Leu656=)
c.1314A= (p.Leu438=)
c.1269A= (p.Leu423=)
c.1254A= (p.Leu418=)
c.1068A= (p.Leu356=)
n.656-2735T=
n.1182A=
5g.143281965A>CCA361868552NR3C1c.2258T>G (p.Leu753Ter)
c.2165T>G (p.Leu722Ter)
c.2261T>G (p.Leu754Ter)
c.2181+603T>G (n.2181+603T>G)
c.2180T>G (p.Leu727Ter)
c.2003T>G (p.Leu668Ter)
c.1991T>G (p.Leu664Ter)
c.1967T>G (p.Leu656Ter)
c.1313T>G (p.Leu438Ter)
c.1268T>G (p.Leu423Ter)
c.1253T>G (p.Leu418Ter)
c.1067T>G (p.Leu356Ter)
n.656-2734A>C
n.1181T>G
5g.143281965A>GCA361868553NR3C1c.2258T>C (p.Leu753Ser)
c.2165T>C (p.Leu722Ser)
c.2261T>C (p.Leu754Ser)
c.2181+603T>C (n.2181+603T>C)
c.2180T>C (p.Leu727Ser)
c.2003T>C (p.Leu668Ser)
c.1991T>C (p.Leu664Ser)
c.1967T>C (p.Leu656Ser)
c.1313T>C (p.Leu438Ser)
c.1268T>C (p.Leu423Ser)
c.1253T>C (p.Leu418Ser)
c.1067T>C (p.Leu356Ser)
n.656-2734A>G
n.1181T>C
5g.143281965A>TCA361868554NR3C1c.2258T>A (p.Leu753Ter)
c.2165T>A (p.Leu722Ter)
c.2261T>A (p.Leu754Ter)
c.2181+603T>A (n.2181+603T>A)
c.2180T>A (p.Leu727Ter)
c.2003T>A (p.Leu668Ter)
c.1991T>A (p.Leu664Ter)
c.1967T>A (p.Leu656Ter)
c.1313T>A (p.Leu438Ter)
c.1268T>A (p.Leu423Ter)
c.1253T>A (p.Leu418Ter)
c.1067T>A (p.Leu356Ter)
n.656-2734A>T
n.1181T>A
5g.143281966A>CCA361868555NR3C1c.2257T>G (p.Leu753Val)
c.2164T>G (p.Leu722Val)
c.2260T>G (p.Leu754Val)
c.2181+602T>G (n.2181+602T>G)
c.2179T>G (p.Leu727Val)
c.2002T>G (p.Leu668Val)
c.1990T>G (p.Leu664Val)
c.1966T>G (p.Leu656Val)
c.1312T>G (p.Leu438Val)
c.1267T>G (p.Leu423Val)
c.1252T>G (p.Leu418Val)
c.1066T>G (p.Leu356Val)
n.656-2733A>C
n.1180T>G
5g.143281966A>GCA446961869NR3C1c.2257T>C (p.Leu753=)
c.2164T>C (p.Leu722=)
c.2260T>C (p.Leu754=)
c.2181+602T>C (n.2181+602T>C)
c.2179T>C (p.Leu727=)
c.2002T>C (p.Leu668=)
c.1990T>C (p.Leu664=)
c.1966T>C (p.Leu656=)
c.1312T>C (p.Leu438=)
c.1267T>C (p.Leu423=)
c.1252T>C (p.Leu418=)
c.1066T>C (p.Leu356=)
n.656-2733A>G
n.1180T>C
5g.143281966A>TCA361868556NR3C1c.2257T>A (p.Leu753Ile)
c.2164T>A (p.Leu722Ile)
c.2260T>A (p.Leu754Ile)
c.2181+602T>A (n.2181+602T>A)
c.2179T>A (p.Leu727Ile)
c.2002T>A (p.Leu668Ile)
c.1990T>A (p.Leu664Ile)
c.1966T>A (p.Leu656Ile)
c.1312T>A (p.Leu438Ile)
c.1267T>A (p.Leu423Ile)
c.1252T>A (p.Leu418Ile)
c.1066T>A (p.Leu356Ile)
n.656-2733A>T
n.1180T>A
5g.143281967C>ACA361868557NR3C1c.2256G>T (p.Met752Ile)
c.2163G>T (p.Met721Ile)
c.2259G>T (p.Met753Ile)
c.2181+601G>T (n.2181+601G>T)
c.2178G>T (p.Met726Ile)
c.2001G>T (p.Met667Ile)
c.1989G>T (p.Met663Ile)
c.1965G>T (p.Met655Ile)
c.1311G>T (p.Met437Ile)
c.1266G>T (p.Met422Ile)
c.1251G>T (p.Met417Ile)
c.1065G>T (p.Met355Ile)
n.656-2732C>A
n.1179G>T
5g.143281967C>GCA361868558NR3C1c.2256G>C (p.Met752Ile)
c.2163G>C (p.Met721Ile)
c.2259G>C (p.Met753Ile)
c.2181+601G>C (n.2181+601G>C)
c.2178G>C (p.Met726Ile)
c.2001G>C (p.Met667Ile)
c.1989G>C (p.Met663Ile)
c.1965G>C (p.Met655Ile)
c.1311G>C (p.Met437Ile)
c.1266G>C (p.Met422Ile)
c.1251G>C (p.Met417Ile)
c.1065G>C (p.Met355Ile)
n.656-2732C>G
n.1179G>C
5g.143281967C>TCA361868559NR3C1c.2256G>A (p.Met752Ile)
c.2163G>A (p.Met721Ile)
c.2259G>A (p.Met753Ile)
c.2181+601G>A (n.2181+601G>A)
c.2178G>A (p.Met726Ile)
c.2001G>A (p.Met667Ile)
c.1989G>A (p.Met663Ile)
c.1965G>A (p.Met655Ile)
c.1311G>A (p.Met437Ile)
c.1266G>A (p.Met422Ile)
c.1251G>A (p.Met417Ile)
c.1065G>A (p.Met355Ile)
n.656-2732C>T
n.1179G>A
5g.143281968A>CCA361868560NR3C1c.2255T>G (p.Met752Arg)
c.2162T>G (p.Met721Arg)
c.2258T>G (p.Met753Arg)
c.2181+600T>G (n.2181+600T>G)
c.2177T>G (p.Met726Arg)
c.2000T>G (p.Met667Arg)
c.1988T>G (p.Met663Arg)
c.1964T>G (p.Met655Arg)
c.1310T>G (p.Met437Arg)
c.1265T>G (p.Met422Arg)
c.1250T>G (p.Met417Arg)
c.1064T>G (p.Met355Arg)
n.656-2731A>C
n.1178T>G
5g.143281968A>GCA361868561NR3C1c.2255T>C (p.Met752Thr)
c.2162T>C (p.Met721Thr)
c.2258T>C (p.Met753Thr)
c.2181+600T>C (n.2181+600T>C)
c.2177T>C (p.Met726Thr)
c.2000T>C (p.Met667Thr)
c.1988T>C (p.Met663Thr)
c.1964T>C (p.Met655Thr)
c.1310T>C (p.Met437Thr)
c.1265T>C (p.Met422Thr)
c.1250T>C (p.Met417Thr)
c.1064T>C (p.Met355Thr)
n.656-2731A>G
n.1178T>C
5g.143281968A>TCA361868562NR3C1c.2255T>A (p.Met752Lys)
c.2162T>A (p.Met721Lys)
c.2258T>A (p.Met753Lys)
c.2181+600T>A (n.2181+600T>A)
c.2177T>A (p.Met726Lys)
c.2000T>A (p.Met667Lys)
c.1988T>A (p.Met663Lys)
c.1964T>A (p.Met655Lys)
c.1310T>A (p.Met437Lys)
c.1265T>A (p.Met422Lys)
c.1250T>A (p.Met417Lys)
c.1064T>A (p.Met355Lys)
n.656-2731A>T
n.1178T>A
5g.143281969T>ACA361868563NR3C1c.2254A>T (p.Met752Leu)
c.2161A>T (p.Met721Leu)
c.2257A>T (p.Met753Leu)
c.2181+599A>T (n.2181+599A>T)
c.2176A>T (p.Met726Leu)
c.1999A>T (p.Met667Leu)
c.1987A>T (p.Met663Leu)
c.1963A>T (p.Met655Leu)
c.1309A>T (p.Met437Leu)
c.1264A>T (p.Met422Leu)
c.1249A>T (p.Met417Leu)
c.1063A>T (p.Met355Leu)
n.656-2730T>A
n.1177A>T
gnomAD v4
5g.143281969T>CCA361868564NR3C1c.2254A>G (p.Met752Val)
c.2161A>G (p.Met721Val)
c.2257A>G (p.Met753Val)
c.2181+599A>G (n.2181+599A>G)
c.2176A>G (p.Met726Val)
c.1999A>G (p.Met667Val)
c.1987A>G (p.Met663Val)
c.1963A>G (p.Met655Val)
c.1309A>G (p.Met437Val)
c.1264A>G (p.Met422Val)
c.1249A>G (p.Met417Val)
c.1063A>G (p.Met355Val)
n.656-2730T>C
n.1177A>G
5g.143281969T>GCA361868565NR3C1c.2254A>C (p.Met752Leu)
c.2161A>C (p.Met721Leu)
c.2257A>C (p.Met753Leu)
c.2181+599A>C (n.2181+599A>C)
c.2176A>C (p.Met726Leu)
c.1999A>C (p.Met667Leu)
c.1987A>C (p.Met663Leu)
c.1963A>C (p.Met655Leu)
c.1309A>C (p.Met437Leu)
c.1264A>C (p.Met422Leu)
c.1249A>C (p.Met417Leu)
c.1063A>C (p.Met355Leu)
n.656-2730T>G
n.1177A>C
gnomAD v4
5g.143281970C>ACA361868567NR3C1c.2253G>T (p.Glu751Asp)
c.2160G>T (p.Glu720Asp)
c.2256G>T (p.Glu752Asp)
c.2181+598G>T (n.2181+598G>T)
c.2175G>T (p.Glu725Asp)
c.1998G>T (p.Glu666Asp)
c.1986G>T (p.Glu662Asp)
c.1962G>T (p.Glu654Asp)
c.1308G>T (p.Glu436Asp)
c.1263G>T (p.Glu421Asp)
c.1248G>T (p.Glu416Asp)
c.1062G>T (p.Glu354Asp)
n.656-2729C>A
n.1176G>T
5g.143281970C>GCA361868566NR3C1c.2253G>C (p.Glu751Asp)
c.2160G>C (p.Glu720Asp)
c.2256G>C (p.Glu752Asp)
c.2181+598G>C (n.2181+598G>C)
c.2175G>C (p.Glu725Asp)
c.1998G>C (p.Glu666Asp)
c.1986G>C (p.Glu662Asp)
c.1962G>C (p.Glu654Asp)
c.1308G>C (p.Glu436Asp)
c.1263G>C (p.Glu421Asp)
c.1248G>C (p.Glu416Asp)
c.1062G>C (p.Glu354Asp)
n.656-2729C>G
n.1176G>C
5g.143281970C>TCA446961870NR3C1c.2253G>A (p.Glu751=)
c.2160G>A (p.Glu720=)
c.2256G>A (p.Glu752=)
c.2181+598G>A (n.2181+598G>A)
c.2175G>A (p.Glu725=)
c.1998G>A (p.Glu666=)
c.1986G>A (p.Glu662=)
c.1962G>A (p.Glu654=)
c.1308G>A (p.Glu436=)
c.1263G>A (p.Glu421=)
c.1248G>A (p.Glu416=)
c.1062G>A (p.Glu354=)
n.656-2729C>T
n.1176G>A
5g.143281971T>ACA361868568NR3C1c.2252A>T (p.Glu751Val)
c.2159A>T (p.Glu720Val)
c.2255A>T (p.Glu752Val)
c.2181+597A>T (n.2181+597A>T)
c.2174A>T (p.Glu725Val)
c.1997A>T (p.Glu666Val)
c.1985A>T (p.Glu662Val)
c.1961A>T (p.Glu654Val)
c.1307A>T (p.Glu436Val)
c.1262A>T (p.Glu421Val)
c.1247A>T (p.Glu416Val)
c.1061A>T (p.Glu354Val)
n.656-2728T>A
n.1175A>T
5g.143281971T>CCA361868569NR3C1c.2252A>G (p.Glu751Gly)
c.2159A>G (p.Glu720Gly)
c.2255A>G (p.Glu752Gly)
c.2181+597A>G (n.2181+597A>G)
c.2174A>G (p.Glu725Gly)
c.1997A>G (p.Glu666Gly)
c.1985A>G (p.Glu662Gly)
c.1961A>G (p.Glu654Gly)
c.1307A>G (p.Glu436Gly)
c.1262A>G (p.Glu421Gly)
c.1247A>G (p.Glu416Gly)
c.1061A>G (p.Glu354Gly)
n.656-2728T>C
n.1175A>G
5g.143281971T>GCA361868570NR3C1c.2252A>C (p.Glu751Ala)
c.2159A>C (p.Glu720Ala)
c.2255A>C (p.Glu752Ala)
c.2181+597A>C (n.2181+597A>C)
c.2174A>C (p.Glu725Ala)
c.1997A>C (p.Glu666Ala)
c.1985A>C (p.Glu662Ala)
c.1961A>C (p.Glu654Ala)
c.1307A>C (p.Glu436Ala)
c.1262A>C (p.Glu421Ala)
c.1247A>C (p.Glu416Ala)
c.1061A>C (p.Glu354Ala)
n.656-2728T>G
n.1175A>C
5g.143281972C>ACA361868571NR3C1c.2251G>T (p.Glu751Ter)
c.2158G>T (p.Glu720Ter)
c.2254G>T (p.Glu752Ter)
c.2181+596G>T (n.2181+596G>T)
c.2173G>T (p.Glu725Ter)
c.1996G>T (p.Glu666Ter)
c.1984G>T (p.Glu662Ter)
c.1960G>T (p.Glu654Ter)
c.1306G>T (p.Glu436Ter)
c.1261G>T (p.Glu421Ter)
c.1246G>T (p.Glu416Ter)
c.1060G>T (p.Glu354Ter)
n.656-2727C>A
n.1174G>T
5g.143281972C>GCA361868572NR3C1c.2251G>C (p.Glu751Gln)
c.2158G>C (p.Glu720Gln)
c.2254G>C (p.Glu752Gln)
c.2181+596G>C (n.2181+596G>C)
c.2173G>C (p.Glu725Gln)
c.1996G>C (p.Glu666Gln)
c.1984G>C (p.Glu662Gln)
c.1960G>C (p.Glu654Gln)
c.1306G>C (p.Glu436Gln)
c.1261G>C (p.Glu421Gln)
c.1246G>C (p.Glu416Gln)
c.1060G>C (p.Glu354Gln)
n.656-2727C>G
n.1174G>C
5g.143281972C>TCA361868573NR3C1c.2251G>A (p.Glu751Lys)
c.2158G>A (p.Glu720Lys)
c.2254G>A (p.Glu752Lys)
c.2181+596G>A (n.2181+596G>A)
c.2173G>A (p.Glu725Lys)
c.1996G>A (p.Glu666Lys)
c.1984G>A (p.Glu662Lys)
c.1960G>A (p.Glu654Lys)
c.1306G>A (p.Glu436Lys)
c.1261G>A (p.Glu421Lys)
c.1246G>A (p.Glu416Lys)
c.1060G>A (p.Glu354Lys)
n.656-2727C>T
n.1174G>A
dbSNP gnomAD v4 COSMIC
5g.143281973G>ACA3486686NR3C1c.2250C>T (p.Pro750=)
c.2157C>T (p.Pro719=)
c.2253C>T (p.Pro751=)
c.2181+595C>T (n.2181+595C>T)
c.2172C>T (p.Pro724=)
c.1995C>T (p.Pro665=)
c.1983C>T (p.Pro661=)
c.1959C>T (p.Pro653=)
c.1305C>T (p.Pro435=)
c.1260C>T (p.Pro420=)
c.1245C>T (p.Pro415=)
c.1059C>T (p.Pro353=)
n.656-2726G>A
n.1173C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.143281973G>CCA446961871NR3C1c.2250C>G (p.Pro750=)
c.2157C>G (p.Pro719=)
c.2253C>G (p.Pro751=)
c.2181+595C>G (n.2181+595C>G)
c.2172C>G (p.Pro724=)
c.1995C>G (p.Pro665=)
c.1983C>G (p.Pro661=)
c.1959C>G (p.Pro653=)
c.1305C>G (p.Pro435=)
c.1260C>G (p.Pro420=)
c.1245C>G (p.Pro415=)
c.1059C>G (p.Pro353=)
n.656-2726G>C
n.1173C>G
5g.143281973G>TCA129252226NR3C1c.2250C>A (p.Pro750=)
c.2157C>A (p.Pro719=)
c.2253C>A (p.Pro751=)
c.2181+595C>A (n.2181+595C>A)
c.2172C>A (p.Pro724=)
c.1995C>A (p.Pro665=)
c.1983C>A (p.Pro661=)
c.1959C>A (p.Pro653=)
c.1305C>A (p.Pro435=)
c.1260C>A (p.Pro420=)
c.1245C>A (p.Pro415=)
c.1059C>A (p.Pro353=)
n.656-2726G>T
n.1173C>A
dbSNP gnomAD v3 gnomAD v4
5g.143281974G>ACA361868574NR3C1c.2249C>T (p.Pro750Leu)
c.2156C>T (p.Pro719Leu)
c.2252C>T (p.Pro751Leu)
c.2181+594C>T (n.2181+594C>T)
c.2171C>T (p.Pro724Leu)
c.1994C>T (p.Pro665Leu)
c.1982C>T (p.Pro661Leu)
c.1958C>T (p.Pro653Leu)
c.1304C>T (p.Pro435Leu)
c.1259C>T (p.Pro420Leu)
c.1244C>T (p.Pro415Leu)
c.1058C>T (p.Pro353Leu)
n.656-2725G>A
n.1172C>T
5g.143281974G>CCA361868575NR3C1c.2249C>G (p.Pro750Arg)
c.2156C>G (p.Pro719Arg)
c.2252C>G (p.Pro751Arg)
c.2181+594C>G (n.2181+594C>G)
c.2171C>G (p.Pro724Arg)
c.1994C>G (p.Pro665Arg)
c.1982C>G (p.Pro661Arg)
c.1958C>G (p.Pro653Arg)
c.1304C>G (p.Pro435Arg)
c.1259C>G (p.Pro420Arg)
c.1244C>G (p.Pro415Arg)
c.1058C>G (p.Pro353Arg)
n.656-2725G>C
n.1172C>G
5g.143281974G>TCA361868576NR3C1c.2249C>A (p.Pro750His)
c.2156C>A (p.Pro719His)
c.2252C>A (p.Pro751His)
c.2181+594C>A (n.2181+594C>A)
c.2171C>A (p.Pro724His)
c.1994C>A (p.Pro665His)
c.1982C>A (p.Pro661His)
c.1958C>A (p.Pro653His)
c.1304C>A (p.Pro435His)
c.1259C>A (p.Pro420His)
c.1244C>A (p.Pro415His)
c.1058C>A (p.Pro353His)
n.656-2725G>T
n.1172C>A
5g.143281975G>ACA361868577NR3C1c.2248C>T (p.Pro750Ser)
c.2155C>T (p.Pro719Ser)
c.2251C>T (p.Pro751Ser)
c.2181+593C>T (n.2181+593C>T)
c.2170C>T (p.Pro724Ser)
c.1993C>T (p.Pro665Ser)
c.1981C>T (p.Pro661Ser)
c.1957C>T (p.Pro653Ser)
c.1303C>T (p.Pro435Ser)
c.1258C>T (p.Pro420Ser)
c.1243C>T (p.Pro415Ser)
c.1057C>T (p.Pro353Ser)
n.656-2724G>A
n.1171C>T
5g.143281975G>CCA361868578NR3C1c.2248C>G (p.Pro750Ala)
c.2155C>G (p.Pro719Ala)
c.2251C>G (p.Pro751Ala)
c.2181+593C>G (n.2181+593C>G)
c.2170C>G (p.Pro724Ala)
c.1993C>G (p.Pro665Ala)
c.1981C>G (p.Pro661Ala)
c.1957C>G (p.Pro653Ala)
c.1303C>G (p.Pro435Ala)
c.1258C>G (p.Pro420Ala)
c.1243C>G (p.Pro415Ala)
c.1057C>G (p.Pro353Ala)
n.656-2724G>C
n.1171C>G
5g.143281975G>TCA361868579NR3C1c.2248C>A (p.Pro750Thr)
c.2155C>A (p.Pro719Thr)
c.2251C>A (p.Pro751Thr)
c.2181+593C>A (n.2181+593C>A)
c.2170C>A (p.Pro724Thr)
c.1993C>A (p.Pro665Thr)
c.1981C>A (p.Pro661Thr)
c.1957C>A (p.Pro653Thr)
c.1303C>A (p.Pro435Thr)
c.1258C>A (p.Pro420Thr)
c.1243C>A (p.Pro415Thr)
c.1057C>A (p.Pro353Thr)
n.656-2724G>T
n.1171C>A
5g.143281976G>ACA446961872NR3C1c.2247C>T (p.Phe749=)
c.2154C>T (p.Phe718=)
c.2250C>T (p.Phe750=)
c.2181+592C>T (n.2181+592C>T)
c.2169C>T (p.Phe723=)
c.1992C>T (p.Phe664=)
c.1980C>T (p.Phe660=)
c.1956C>T (p.Phe652=)
c.1302C>T (p.Phe434=)
c.1257C>T (p.Phe419=)
c.1242C>T (p.Phe414=)
c.1056C>T (p.Phe352=)
n.656-2723G>A
n.1170C>T
5g.143281976G>CCA361868580NR3C1c.2247C>G (p.Phe749Leu)
c.2154C>G (p.Phe718Leu)
c.2250C>G (p.Phe750Leu)
c.2181+592C>G (n.2181+592C>G)
c.2169C>G (p.Phe723Leu)
c.1992C>G (p.Phe664Leu)
c.1980C>G (p.Phe660Leu)
c.1956C>G (p.Phe652Leu)
c.1302C>G (p.Phe434Leu)
c.1257C>G (p.Phe419Leu)
c.1242C>G (p.Phe414Leu)
c.1056C>G (p.Phe352Leu)
n.656-2723G>C
n.1170C>G
5g.143281976G>TCA361868581NR3C1c.2247C>A (p.Phe749Leu)
c.2154C>A (p.Phe718Leu)
c.2250C>A (p.Phe750Leu)
c.2181+592C>A (n.2181+592C>A)
c.2169C>A (p.Phe723Leu)
c.1992C>A (p.Phe664Leu)
c.1980C>A (p.Phe660Leu)
c.1956C>A (p.Phe652Leu)
c.1302C>A (p.Phe434Leu)
c.1257C>A (p.Phe419Leu)
c.1242C>A (p.Phe414Leu)
c.1056C>A (p.Phe352Leu)
n.656-2723G>T
n.1170C>A
5g.143281977A>CCA361868582NR3C1c.2246T>G (p.Phe749Cys)
c.2153T>G (p.Phe718Cys)
c.2249T>G (p.Phe750Cys)
c.2181+591T>G (n.2181+591T>G)
c.2168T>G (p.Phe723Cys)
c.1991T>G (p.Phe664Cys)
c.1979T>G (p.Phe660Cys)
c.1955T>G (p.Phe652Cys)
c.1301T>G (p.Phe434Cys)
c.1256T>G (p.Phe419Cys)
c.1241T>G (p.Phe414Cys)
c.1055T>G (p.Phe352Cys)
n.656-2722A>C
n.1169T>G
5g.143281977A>GCA361868584NR3C1c.2246T>C (p.Phe749Ser)
c.2153T>C (p.Phe718Ser)
c.2249T>C (p.Phe750Ser)
c.2181+591T>C (n.2181+591T>C)
c.2168T>C (p.Phe723Ser)
c.1991T>C (p.Phe664Ser)
c.1979T>C (p.Phe660Ser)
c.1955T>C (p.Phe652Ser)
c.1301T>C (p.Phe434Ser)
c.1256T>C (p.Phe419Ser)
c.1241T>C (p.Phe414Ser)
c.1055T>C (p.Phe352Ser)
n.656-2722A>G
n.1169T>C
5g.143281977A>TCA361868583NR3C1c.2246T>A (p.Phe749Tyr)
c.2153T>A (p.Phe718Tyr)
c.2249T>A (p.Phe750Tyr)
c.2181+591T>A (n.2181+591T>A)
c.2168T>A (p.Phe723Tyr)
c.1991T>A (p.Phe664Tyr)
c.1979T>A (p.Phe660Tyr)
c.1955T>A (p.Phe652Tyr)
c.1301T>A (p.Phe434Tyr)
c.1256T>A (p.Phe419Tyr)
c.1241T>A (p.Phe414Tyr)
c.1055T>A (p.Phe352Tyr)
n.656-2722A>T
n.1169T>A
5g.143281978A>CCA361868585NR3C1c.2245T>G (p.Phe749Val)
c.2152T>G (p.Phe718Val)
c.2248T>G (p.Phe750Val)
c.2181+590T>G (n.2181+590T>G)
c.2167T>G (p.Phe723Val)
c.1990T>G (p.Phe664Val)
c.1978T>G (p.Phe660Val)
c.1954T>G (p.Phe652Val)
c.1300T>G (p.Phe434Val)
c.1255T>G (p.Phe419Val)
c.1240T>G (p.Phe414Val)
c.1054T>G (p.Phe352Val)
n.656-2721A>C
n.1168T>G
5g.143281978A>GCA361868587NR3C1c.2245T>C (p.Phe749Leu)
c.2152T>C (p.Phe718Leu)
c.2248T>C (p.Phe750Leu)
c.2181+590T>C (n.2181+590T>C)
c.2167T>C (p.Phe723Leu)
c.1990T>C (p.Phe664Leu)
c.1978T>C (p.Phe660Leu)
c.1954T>C (p.Phe652Leu)
c.1300T>C (p.Phe434Leu)
c.1255T>C (p.Phe419Leu)
c.1240T>C (p.Phe414Leu)
c.1054T>C (p.Phe352Leu)
n.656-2721A>G
n.1168T>C
5g.143281978A>TCA361868586NR3C1c.2245T>A (p.Phe749Ile)
c.2152T>A (p.Phe718Ile)
c.2248T>A (p.Phe750Ile)
c.2181+590T>A (n.2181+590T>A)
c.2167T>A (p.Phe723Ile)
c.1990T>A (p.Phe664Ile)
c.1978T>A (p.Phe660Ile)
c.1954T>A (p.Phe652Ile)
c.1300T>A (p.Phe434Ile)
c.1255T>A (p.Phe419Ile)
c.1240T>A (p.Phe414Ile)
c.1054T>A (p.Phe352Ile)
n.656-2721A>T
n.1168T>A
5g.143281979T>ACA361868588NR3C1c.2244A>T (p.Glu748Asp)
c.2151A>T (p.Glu717Asp)
c.2247A>T (p.Glu749Asp)
c.2181+589A>T (n.2181+589A>T)
c.2166A>T (p.Glu722Asp)
c.1989A>T (p.Glu663Asp)
c.1977A>T (p.Glu659Asp)
c.1953A>T (p.Glu651Asp)
c.1299A>T (p.Glu433Asp)
c.1254A>T (p.Glu418Asp)
c.1239A>T (p.Glu413Asp)
c.1053A>T (p.Glu351Asp)
n.656-2720T>A
n.1167A>T
5g.143281979T>CCA446961873NR3C1c.2244A>G (p.Glu748=)
c.2151A>G (p.Glu717=)
c.2247A>G (p.Glu749=)
c.2181+589A>G (n.2181+589A>G)
c.2166A>G (p.Glu722=)
c.1989A>G (p.Glu663=)
c.1977A>G (p.Glu659=)
c.1953A>G (p.Glu651=)
c.1299A>G (p.Glu433=)
c.1254A>G (p.Glu418=)
c.1239A>G (p.Glu413=)
c.1053A>G (p.Glu351=)
n.656-2720T>C
n.1167A>G
5g.143281979T>GCA361868589NR3C1c.2244A>C (p.Glu748Asp)
c.2151A>C (p.Glu717Asp)
c.2247A>C (p.Glu749Asp)
c.2181+589A>C (n.2181+589A>C)
c.2166A>C (p.Glu722Asp)
c.1989A>C (p.Glu663Asp)
c.1977A>C (p.Glu659Asp)
c.1953A>C (p.Glu651Asp)
c.1299A>C (p.Glu433Asp)
c.1254A>C (p.Glu418Asp)
c.1239A>C (p.Glu413Asp)
c.1053A>C (p.Glu351Asp)
n.656-2720T>G
n.1167A>C
5g.143281980T>ACA361868590NR3C1c.2243A>T (p.Glu748Val)
c.2150A>T (p.Glu717Val)
c.2246A>T (p.Glu749Val)
c.2181+588A>T (n.2181+588A>T)
c.2165A>T (p.Glu722Val)
c.1988A>T (p.Glu663Val)
c.1976A>T (p.Glu659Val)
c.1952A>T (p.Glu651Val)
c.1298A>T (p.Glu433Val)
c.1253A>T (p.Glu418Val)
c.1238A>T (p.Glu413Val)
c.1052A>T (p.Glu351Val)
n.656-2719T>A
n.1166A>T
5g.143281980T>CCA361868592NR3C1c.2243A>G (p.Glu748Gly)
c.2150A>G (p.Glu717Gly)
c.2246A>G (p.Glu749Gly)
c.2181+588A>G (n.2181+588A>G)
c.2165A>G (p.Glu722Gly)
c.1988A>G (p.Glu663Gly)
c.1976A>G (p.Glu659Gly)
c.1952A>G (p.Glu651Gly)
c.1298A>G (p.Glu433Gly)
c.1253A>G (p.Glu418Gly)
c.1238A>G (p.Glu413Gly)
c.1052A>G (p.Glu351Gly)
n.656-2719T>C
n.1166A>G
5g.143281980T>GCA361868591NR3C1c.2243A>C (p.Glu748Ala)
c.2150A>C (p.Glu717Ala)
c.2246A>C (p.Glu749Ala)
c.2181+588A>C (n.2181+588A>C)
c.2165A>C (p.Glu722Ala)
c.1988A>C (p.Glu663Ala)
c.1976A>C (p.Glu659Ala)
c.1952A>C (p.Glu651Ala)
c.1298A>C (p.Glu433Ala)
c.1253A>C (p.Glu418Ala)
c.1238A>C (p.Glu413Ala)
c.1052A>C (p.Glu351Ala)
n.656-2719T>G
n.1166A>C
5g.143281981C>ACA361868593NR3C1c.2242G>T (p.Glu748Ter)
c.2149G>T (p.Glu717Ter)
c.2245G>T (p.Glu749Ter)
c.2181+587G>T (n.2181+587G>T)
c.2164G>T (p.Glu722Ter)
c.1987G>T (p.Glu663Ter)
c.1975G>T (p.Glu659Ter)
c.1951G>T (p.Glu651Ter)
c.1297G>T (p.Glu433Ter)
c.1252G>T (p.Glu418Ter)
c.1237G>T (p.Glu413Ter)
c.1051G>T (p.Glu351Ter)
n.656-2718C>A
n.1165G>T
gnomAD v4
5g.143281981C>GCA361868594NR3C1c.2242G>C (p.Glu748Gln)
c.2149G>C (p.Glu717Gln)
c.2245G>C (p.Glu749Gln)
c.2181+587G>C (n.2181+587G>C)
c.2164G>C (p.Glu722Gln)
c.1987G>C (p.Glu663Gln)
c.1975G>C (p.Glu659Gln)
c.1951G>C (p.Glu651Gln)
c.1297G>C (p.Glu433Gln)
c.1252G>C (p.Glu418Gln)
c.1237G>C (p.Glu413Gln)
c.1051G>C (p.Glu351Gln)
n.656-2718C>G
n.1165G>C
5g.143281981C>TCA361868595NR3C1c.2242G>A (p.Glu748Lys)
c.2149G>A (p.Glu717Lys)
c.2245G>A (p.Glu749Lys)
c.2181+587G>A (n.2181+587G>A)
c.2164G>A (p.Glu722Lys)
c.1987G>A (p.Glu663Lys)
c.1975G>A (p.Glu659Lys)
c.1951G>A (p.Glu651Lys)
c.1297G>A (p.Glu433Lys)
c.1252G>A (p.Glu418Lys)
c.1237G>A (p.Glu413Lys)
c.1051G>A (p.Glu351Lys)
n.656-2718C>T
n.1165G>A
dbSNP
5g.143281982A=CA2581520112NR3C1c.2241T= (p.Ile747=)
c.2148T= (p.Ile716=)
c.2244T= (p.Ile748=)
c.2181+586T= (n.2181+586T=)
c.2163T= (p.Ile721=)
c.1986T= (p.Ile662=)
c.1974T= (p.Ile658=)
c.1950T= (p.Ile650=)
c.1296T= (p.Ile432=)
c.1251T= (p.Ile417=)
c.1236T= (p.Ile412=)
c.1050T= (p.Ile350=)
n.656-2717A=
n.1164T=
5g.143281982A>CCA126227NR3C1c.2241T>G (p.Ile747Met)
c.2148T>G (p.Ile716Met)
c.2244T>G (p.Ile748Met)
c.2181+586T>G (n.2181+586T>G)
c.2163T>G (p.Ile721Met)
c.1986T>G (p.Ile662Met)
c.1974T>G (p.Ile658Met)
c.1950T>G (p.Ile650Met)
c.1296T>G (p.Ile432Met)
c.1251T>G (p.Ile417Met)
c.1236T>G (p.Ile412Met)
c.1050T>G (p.Ile350Met)
n.656-2717A>C
n.1164T>G
ClinVar dbSNP
5g.143281982A>GCA129252227NR3C1c.2241T>C (p.Ile747=)
c.2148T>C (p.Ile716=)
c.2244T>C (p.Ile748=)
c.2181+586T>C (n.2181+586T>C)
c.2163T>C (p.Ile721=)
c.1986T>C (p.Ile662=)
c.1974T>C (p.Ile658=)
c.1950T>C (p.Ile650=)
c.1296T>C (p.Ile432=)
c.1251T>C (p.Ile417=)
c.1236T>C (p.Ile412=)
c.1050T>C (p.Ile350=)
n.656-2717A>G
n.1164T>C
dbSNP gnomAD v3 gnomAD v4
5g.143281982A>TCA446961875NR3C1c.2241T>A (p.Ile747=)
c.2148T>A (p.Ile716=)
c.2244T>A (p.Ile748=)
c.2181+586T>A (n.2181+586T>A)
c.2163T>A (p.Ile721=)
c.1986T>A (p.Ile662=)
c.1974T>A (p.Ile658=)
c.1950T>A (p.Ile650=)
c.1296T>A (p.Ile432=)
c.1251T>A (p.Ile417=)
c.1236T>A (p.Ile412=)
c.1050T>A (p.Ile350=)
n.656-2717A>T
n.1164T>A
5g.143281983A>CCA361868596NR3C1c.2240T>G (p.Ile747Ser)
c.2147T>G (p.Ile716Ser)
c.2243T>G (p.Ile748Ser)
c.2181+585T>G (n.2181+585T>G)
c.2162T>G (p.Ile721Ser)
c.1985T>G (p.Ile662Ser)
c.1973T>G (p.Ile658Ser)
c.1949T>G (p.Ile650Ser)
c.1295T>G (p.Ile432Ser)
c.1250T>G (p.Ile417Ser)
c.1235T>G (p.Ile412Ser)
c.1049T>G (p.Ile350Ser)
n.656-2716A>C
n.1163T>G
5g.143281983A>GCA361868597NR3C1c.2240T>C (p.Ile747Thr)
c.2147T>C (p.Ile716Thr)
c.2243T>C (p.Ile748Thr)
c.2181+585T>C (n.2181+585T>C)
c.2162T>C (p.Ile721Thr)
c.1985T>C (p.Ile662Thr)
c.1973T>C (p.Ile658Thr)
c.1949T>C (p.Ile650Thr)
c.1295T>C (p.Ile432Thr)
c.1250T>C (p.Ile417Thr)
c.1235T>C (p.Ile412Thr)
c.1049T>C (p.Ile350Thr)
n.656-2716A>G
n.1163T>C
5g.143281983A>TCA361868598NR3C1c.2240T>A (p.Ile747Asn)
c.2147T>A (p.Ile716Asn)
c.2243T>A (p.Ile748Asn)
c.2181+585T>A (n.2181+585T>A)
c.2162T>A (p.Ile721Asn)
c.1985T>A (p.Ile662Asn)
c.1973T>A (p.Ile658Asn)
c.1949T>A (p.Ile650Asn)
c.1295T>A (p.Ile432Asn)
c.1250T>A (p.Ile417Asn)
c.1235T>A (p.Ile412Asn)
c.1049T>A (p.Ile350Asn)
n.656-2716A>T
n.1163T>A
5g.143281984T>ACA361868599NR3C1c.2239A>T (p.Ile747Phe)
c.2146A>T (p.Ile716Phe)
c.2242A>T (p.Ile748Phe)
c.2181+584A>T (n.2181+584A>T)
c.2161A>T (p.Ile721Phe)
c.1984A>T (p.Ile662Phe)
c.1972A>T (p.Ile658Phe)
c.1948A>T (p.Ile650Phe)
c.1294A>T (p.Ile432Phe)
c.1249A>T (p.Ile417Phe)
c.1234A>T (p.Ile412Phe)
c.1048A>T (p.Ile350Phe)
n.656-2715T>A
n.1162A>T
5g.143281984T>CCA361868600NR3C1c.2239A>G (p.Ile747Val)
c.2146A>G (p.Ile716Val)
c.2242A>G (p.Ile748Val)
c.2181+584A>G (n.2181+584A>G)
c.2161A>G (p.Ile721Val)
c.1984A>G (p.Ile662Val)
c.1972A>G (p.Ile658Val)
c.1948A>G (p.Ile650Val)
c.1294A>G (p.Ile432Val)
c.1249A>G (p.Ile417Val)
c.1234A>G (p.Ile412Val)
c.1048A>G (p.Ile350Val)
n.656-2715T>C
n.1162A>G
5g.143281984T>GCA361868601NR3C1c.2239A>C (p.Ile747Leu)
c.2146A>C (p.Ile716Leu)
c.2242A>C (p.Ile748Leu)
c.2181+584A>C (n.2181+584A>C)
c.2161A>C (p.Ile721Leu)
c.1984A>C (p.Ile662Leu)
c.1972A>C (p.Ile658Leu)
c.1948A>C (p.Ile650Leu)
c.1294A>C (p.Ile432Leu)
c.1249A>C (p.Ile417Leu)
c.1234A>C (p.Ile412Leu)
c.1048A>C (p.Ile350Leu)
n.656-2715T>G
n.1162A>C
5g.143281985A>CCA361868602NR3C1c.2238T>G (p.Ser746Arg)
c.2145T>G (p.Ser715Arg)
c.2241T>G (p.Ser747Arg)
c.2181+583T>G (n.2181+583T>G)
c.2160T>G (p.Ser720Arg)
c.1983T>G (p.Ser661Arg)
c.1971T>G (p.Ser657Arg)
c.1947T>G (p.Ser649Arg)
c.1293T>G (p.Ser431Arg)
c.1248T>G (p.Ser416Arg)
c.1233T>G (p.Ser411Arg)
c.1047T>G (p.Ser349Arg)
n.656-2714A>C
n.1161T>G
5g.143281985A>GCA446961876NR3C1c.2238T>C (p.Ser746=)
c.2145T>C (p.Ser715=)
c.2241T>C (p.Ser747=)
c.2181+583T>C (n.2181+583T>C)
c.2160T>C (p.Ser720=)
c.1983T>C (p.Ser661=)
c.1971T>C (p.Ser657=)
c.1947T>C (p.Ser649=)
c.1293T>C (p.Ser431=)
c.1248T>C (p.Ser416=)
c.1233T>C (p.Ser411=)
c.1047T>C (p.Ser349=)
n.656-2714A>G
n.1161T>C
5g.143281985A>TCA361868603NR3C1c.2238T>A (p.Ser746Arg)
c.2145T>A (p.Ser715Arg)
c.2241T>A (p.Ser747Arg)
c.2181+583T>A (n.2181+583T>A)
c.2160T>A (p.Ser720Arg)
c.1983T>A (p.Ser661Arg)
c.1971T>A (p.Ser657Arg)
c.1947T>A (p.Ser649Arg)
c.1293T>A (p.Ser431Arg)
c.1248T>A (p.Ser416Arg)
c.1233T>A (p.Ser411Arg)
c.1047T>A (p.Ser349Arg)
n.656-2714A>T
n.1161T>A
5g.143281986C>ACA129252228NR3C1c.2237G>T (p.Ser746Ile)
c.2144G>T (p.Ser715Ile)
c.2240G>T (p.Ser747Ile)
c.2181+582G>T (n.2181+582G>T)
c.2159G>T (p.Ser720Ile)
c.1982G>T (p.Ser661Ile)
c.1970G>T (p.Ser657Ile)
c.1946G>T (p.Ser649Ile)
c.1292G>T (p.Ser431Ile)
c.1247G>T (p.Ser416Ile)
c.1232G>T (p.Ser411Ile)
c.1046G>T (p.Ser349Ile)
n.656-2713C>A
n.1160G>T
dbSNP
5g.143281986C>GCA361868605NR3C1c.2237G>C (p.Ser746Thr)
c.2144G>C (p.Ser715Thr)
c.2240G>C (p.Ser747Thr)
c.2181+582G>C (n.2181+582G>C)
c.2159G>C (p.Ser720Thr)
c.1982G>C (p.Ser661Thr)
c.1970G>C (p.Ser657Thr)
c.1946G>C (p.Ser649Thr)
c.1292G>C (p.Ser431Thr)
c.1247G>C (p.Ser416Thr)
c.1232G>C (p.Ser411Thr)
c.1046G>C (p.Ser349Thr)
n.656-2713C>G
n.1160G>C
5g.143281986C>TCA361868604NR3C1c.2237G>A (p.Ser746Asn)
c.2144G>A (p.Ser715Asn)
c.2240G>A (p.Ser747Asn)
c.2181+582G>A (n.2181+582G>A)
c.2159G>A (p.Ser720Asn)
c.1982G>A (p.Ser661Asn)
c.1970G>A (p.Ser657Asn)
c.1946G>A (p.Ser649Asn)
c.1292G>A (p.Ser431Asn)
c.1247G>A (p.Ser416Asn)
c.1232G>A (p.Ser411Asn)
c.1046G>A (p.Ser349Asn)
n.656-2713C>T
n.1160G>A
5g.143281987T>ACA361868606NR3C1c.2236A>T (p.Ser746Cys)
c.2143A>T (p.Ser715Cys)
c.2239A>T (p.Ser747Cys)
c.2181+581A>T (n.2181+581A>T)
c.2158A>T (p.Ser720Cys)
c.1981A>T (p.Ser661Cys)
c.1969A>T (p.Ser657Cys)
c.1945A>T (p.Ser649Cys)
c.1291A>T (p.Ser431Cys)
c.1246A>T (p.Ser416Cys)
c.1231A>T (p.Ser411Cys)
c.1045A>T (p.Ser349Cys)
n.656-2712T>A
n.1159A>T
5g.143281987T>CCA361868607NR3C1c.2236A>G (p.Ser746Gly)
c.2143A>G (p.Ser715Gly)
c.2239A>G (p.Ser747Gly)
c.2181+581A>G (n.2181+581A>G)
c.2158A>G (p.Ser720Gly)
c.1981A>G (p.Ser661Gly)
c.1969A>G (p.Ser657Gly)
c.1945A>G (p.Ser649Gly)
c.1291A>G (p.Ser431Gly)
c.1246A>G (p.Ser416Gly)
c.1231A>G (p.Ser411Gly)
c.1045A>G (p.Ser349Gly)
n.656-2712T>C
n.1159A>G
5g.143281987T>GCA361868608NR3C1c.2236A>C (p.Ser746Arg)
c.2143A>C (p.Ser715Arg)
c.2239A>C (p.Ser747Arg)
c.2181+581A>C (n.2181+581A>C)
c.2158A>C (p.Ser720Arg)
c.1981A>C (p.Ser661Arg)
c.1969A>C (p.Ser657Arg)
c.1945A>C (p.Ser649Arg)
c.1291A>C (p.Ser431Arg)
c.1246A>C (p.Ser416Arg)
c.1231A>C (p.Ser411Arg)
c.1045A>C (p.Ser349Arg)
n.656-2712T>G
n.1159A>C
5g.143281988C>ACA361868609NR3C1c.2235G>T (p.Met745Ile)
c.2142G>T (p.Met714Ile)
c.2238G>T (p.Met746Ile)
c.2181+580G>T (n.2181+580G>T)
c.2157G>T (p.Met719Ile)
c.1980G>T (p.Met660Ile)
c.1968G>T (p.Met656Ile)
c.1944G>T (p.Met648Ile)
c.1290G>T (p.Met430Ile)
c.1245G>T (p.Met415Ile)
c.1230G>T (p.Met410Ile)
c.1044G>T (p.Met348Ile)
n.656-2711C>A
n.1158G>T
5g.143281988C>GCA361868610NR3C1c.2235G>C (p.Met745Ile)
c.2142G>C (p.Met714Ile)
c.2238G>C (p.Met746Ile)
c.2181+580G>C (n.2181+580G>C)
c.2157G>C (p.Met719Ile)
c.1980G>C (p.Met660Ile)
c.1968G>C (p.Met656Ile)
c.1944G>C (p.Met648Ile)
c.1290G>C (p.Met430Ile)
c.1245G>C (p.Met415Ile)
c.1230G>C (p.Met410Ile)
c.1044G>C (p.Met348Ile)
n.656-2711C>G
n.1158G>C
5g.143281988C>TCA361868611NR3C1c.2235G>A (p.Met745Ile)
c.2142G>A (p.Met714Ile)
c.2238G>A (p.Met746Ile)
c.2181+580G>A (n.2181+580G>A)
c.2157G>A (p.Met719Ile)
c.1980G>A (p.Met660Ile)
c.1968G>A (p.Met656Ile)
c.1944G>A (p.Met648Ile)
c.1290G>A (p.Met430Ile)
c.1245G>A (p.Met415Ile)
c.1230G>A (p.Met410Ile)
c.1044G>A (p.Met348Ile)
n.656-2711C>T
n.1158G>A
5g.143281989A>CCA361868612NR3C1c.2234T>G (p.Met745Arg)
c.2141T>G (p.Met714Arg)
c.2237T>G (p.Met746Arg)
c.2181+579T>G (n.2181+579T>G)
c.2156T>G (p.Met719Arg)
c.1979T>G (p.Met660Arg)
c.1967T>G (p.Met656Arg)
c.1943T>G (p.Met648Arg)
c.1289T>G (p.Met430Arg)
c.1244T>G (p.Met415Arg)
c.1229T>G (p.Met410Arg)
c.1043T>G (p.Met348Arg)
n.656-2710A>C
n.1157T>G
gnomAD v4
5g.143281989A>GCA361868613NR3C1c.2234T>C (p.Met745Thr)
c.2141T>C (p.Met714Thr)
c.2237T>C (p.Met746Thr)
c.2181+579T>C (n.2181+579T>C)
c.2156T>C (p.Met719Thr)
c.1979T>C (p.Met660Thr)
c.1967T>C (p.Met656Thr)
c.1943T>C (p.Met648Thr)
c.1289T>C (p.Met430Thr)
c.1244T>C (p.Met415Thr)
c.1229T>C (p.Met410Thr)
c.1043T>C (p.Met348Thr)
n.656-2710A>G
n.1157T>C
5g.143281989A>TCA361868614NR3C1c.2234T>A (p.Met745Lys)
c.2141T>A (p.Met714Lys)
c.2237T>A (p.Met746Lys)
c.2181+579T>A (n.2181+579T>A)
c.2156T>A (p.Met719Lys)
c.1979T>A (p.Met660Lys)
c.1967T>A (p.Met656Lys)
c.1943T>A (p.Met648Lys)
c.1289T>A (p.Met430Lys)
c.1244T>A (p.Met415Lys)
c.1229T>A (p.Met410Lys)
c.1043T>A (p.Met348Lys)
n.656-2710A>T
n.1157T>A
5g.143281990T>ACA361868616NR3C1c.2233A>T (p.Met745Leu)
c.2140A>T (p.Met714Leu)
c.2236A>T (p.Met746Leu)
c.2181+578A>T (n.2181+578A>T)
c.2155A>T (p.Met719Leu)
c.1978A>T (p.Met660Leu)
c.1966A>T (p.Met656Leu)
c.1942A>T (p.Met648Leu)
c.1288A>T (p.Met430Leu)
c.1243A>T (p.Met415Leu)
c.1228A>T (p.Met410Leu)
c.1042A>T (p.Met348Leu)
n.656-2709T>A
n.1156A>T
5g.143281990T>CCA3486687NR3C1c.2233A>G (p.Met745Val)
c.2140A>G (p.Met714Val)
c.2236A>G (p.Met746Val)
c.2181+578A>G (n.2181+578A>G)
c.2155A>G (p.Met719Val)
c.1978A>G (p.Met660Val)
c.1966A>G (p.Met656Val)
c.1942A>G (p.Met648Val)
c.1288A>G (p.Met430Val)
c.1243A>G (p.Met415Val)
c.1228A>G (p.Met410Val)
c.1042A>G (p.Met348Val)
n.656-2709T>C
n.1156A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.143281990T>GCA361868615NR3C1c.2233A>C (p.Met745Leu)
c.2140A>C (p.Met714Leu)
c.2236A>C (p.Met746Leu)
c.2181+578A>C (n.2181+578A>C)
c.2155A>C (p.Met719Leu)
c.1978A>C (p.Met660Leu)
c.1966A>C (p.Met656Leu)
c.1942A>C (p.Met648Leu)
c.1288A>C (p.Met430Leu)
c.1243A>C (p.Met415Leu)
c.1228A>C (p.Met410Leu)
c.1042A>C (p.Met348Leu)
n.656-2709T>G
n.1156A>C
gnomAD v4
5g.143281991G>ACA446961877NR3C1c.2232C>T (p.Thr744=)
c.2139C>T (p.Thr713=)
c.2235C>T (p.Thr745=)
c.2181+577C>T (n.2181+577C>T)
c.2154C>T (p.Thr718=)
c.1977C>T (p.Thr659=)
c.1965C>T (p.Thr655=)
c.1941C>T (p.Thr647=)
c.1287C>T (p.Thr429=)
c.1242C>T (p.Thr414=)
c.1227C>T (p.Thr409=)
c.1041C>T (p.Thr347=)
n.656-2708G>A
n.1155C>T
5g.143281991G>CCA446961878NR3C1c.2232C>G (p.Thr744=)
c.2139C>G (p.Thr713=)
c.2235C>G (p.Thr745=)
c.2181+577C>G (n.2181+577C>G)
c.2154C>G (p.Thr718=)
c.1977C>G (p.Thr659=)
c.1965C>G (p.Thr655=)
c.1941C>G (p.Thr647=)
c.1287C>G (p.Thr429=)
c.1242C>G (p.Thr414=)
c.1227C>G (p.Thr409=)
c.1041C>G (p.Thr347=)
n.656-2708G>C
n.1155C>G
5g.143281991G>TCA446961879NR3C1c.2232C>A (p.Thr744=)
c.2139C>A (p.Thr713=)
c.2235C>A (p.Thr745=)
c.2181+577C>A (n.2181+577C>A)
c.2154C>A (p.Thr718=)
c.1977C>A (p.Thr659=)
c.1965C>A (p.Thr655=)
c.1941C>A (p.Thr647=)
c.1287C>A (p.Thr429=)
c.1242C>A (p.Thr414=)
c.1227C>A (p.Thr409=)
c.1041C>A (p.Thr347=)
n.656-2708G>T
n.1155C>A
5g.143281992G>ACA361868617NR3C1c.2231C>T (p.Thr744Ile)
c.2138C>T (p.Thr713Ile)
c.2234C>T (p.Thr745Ile)
c.2181+576C>T (n.2181+576C>T)
c.2153C>T (p.Thr718Ile)
c.1976C>T (p.Thr659Ile)
c.1964C>T (p.Thr655Ile)
c.1940C>T (p.Thr647Ile)
c.1286C>T (p.Thr429Ile)
c.1241C>T (p.Thr414Ile)
c.1226C>T (p.Thr409Ile)
c.1040C>T (p.Thr347Ile)
n.656-2707G>A
n.1154C>T
gnomAD v4
5g.143281992G>CCA361868618NR3C1c.2231C>G (p.Thr744Ser)
c.2138C>G (p.Thr713Ser)
c.2234C>G (p.Thr745Ser)
c.2181+576C>G (n.2181+576C>G)
c.2153C>G (p.Thr718Ser)
c.1976C>G (p.Thr659Ser)
c.1964C>G (p.Thr655Ser)
c.1940C>G (p.Thr647Ser)
c.1286C>G (p.Thr429Ser)
c.1241C>G (p.Thr414Ser)
c.1226C>G (p.Thr409Ser)
c.1040C>G (p.Thr347Ser)
n.656-2707G>C
n.1154C>G
5g.143281992G>TCA3486688NR3C1c.2231C>A (p.Thr744Asn)
c.2138C>A (p.Thr713Asn)
c.2234C>A (p.Thr745Asn)
c.2181+576C>A (n.2181+576C>A)
c.2153C>A (p.Thr718Asn)
c.1976C>A (p.Thr659Asn)
c.1964C>A (p.Thr655Asn)
c.1940C>A (p.Thr647Asn)
c.1286C>A (p.Thr429Asn)
c.1241C>A (p.Thr414Asn)
c.1226C>A (p.Thr409Asn)
c.1040C>A (p.Thr347Asn)
n.656-2707G>T
n.1154C>A
dbSNP ExAC gnomAD v2
5g.143281993T>ACA361868619NR3C1c.2230A>T (p.Thr744Ser)
c.2137A>T (p.Thr713Ser)
c.2233A>T (p.Thr745Ser)
c.2181+575A>T (n.2181+575A>T)
c.2152A>T (p.Thr718Ser)
c.1975A>T (p.Thr659Ser)
c.1963A>T (p.Thr655Ser)
c.1939A>T (p.Thr647Ser)
c.1285A>T (p.Thr429Ser)
c.1240A>T (p.Thr414Ser)
c.1225A>T (p.Thr409Ser)
c.1039A>T (p.Thr347Ser)
n.656-2706T>A
n.1153A>T
5g.143281993T>CCA361868620NR3C1c.2230A>G (p.Thr744Ala)
c.2137A>G (p.Thr713Ala)
c.2233A>G (p.Thr745Ala)
c.2181+575A>G (n.2181+575A>G)
c.2152A>G (p.Thr718Ala)
c.1975A>G (p.Thr659Ala)
c.1963A>G (p.Thr655Ala)
c.1939A>G (p.Thr647Ala)
c.1285A>G (p.Thr429Ala)
c.1240A>G (p.Thr414Ala)
c.1225A>G (p.Thr409Ala)
c.1039A>G (p.Thr347Ala)
n.656-2706T>C
n.1153A>G
5g.143281993T>GCA361868621NR3C1c.2230A>C (p.Thr744Pro)
c.2137A>C (p.Thr713Pro)
c.2233A>C (p.Thr745Pro)
c.2181+575A>C (n.2181+575A>C)
c.2152A>C (p.Thr718Pro)
c.1975A>C (p.Thr659Pro)
c.1963A>C (p.Thr655Pro)
c.1939A>C (p.Thr647Pro)
c.1285A>C (p.Thr429Pro)
c.1240A>C (p.Thr414Pro)
c.1225A>C (p.Thr409Pro)
c.1039A>C (p.Thr347Pro)
n.656-2706T>G
n.1153A>C
5g.143281994C>ACA361868622NR3C1c.2229G>T (p.Lys743Asn)
c.2136G>T (p.Lys712Asn)
c.2232G>T (p.Lys744Asn)
c.2181+574G>T (n.2181+574G>T)
c.2151G>T (p.Lys717Asn)
c.1974G>T (p.Lys658Asn)
c.1962G>T (p.Lys654Asn)
c.1938G>T (p.Lys646Asn)
c.1284G>T (p.Lys428Asn)
c.1239G>T (p.Lys413Asn)
c.1224G>T (p.Lys408Asn)
c.1038G>T (p.Lys346Asn)
n.656-2705C>A
n.1152G>T
5g.143281994C>GCA361868623NR3C1c.2229G>C (p.Lys743Asn)
c.2136G>C (p.Lys712Asn)
c.2232G>C (p.Lys744Asn)
c.2181+574G>C (n.2181+574G>C)
c.2151G>C (p.Lys717Asn)
c.1974G>C (p.Lys658Asn)
c.1962G>C (p.Lys654Asn)
c.1938G>C (p.Lys646Asn)
c.1284G>C (p.Lys428Asn)
c.1239G>C (p.Lys413Asn)
c.1224G>C (p.Lys408Asn)
c.1038G>C (p.Lys346Asn)
n.656-2705C>G
n.1152G>C
5g.143281994C>TCA446961880NR3C1c.2229G>A (p.Lys743=)
c.2136G>A (p.Lys712=)
c.2232G>A (p.Lys744=)
c.2181+574G>A (n.2181+574G>A)
c.2151G>A (p.Lys717=)
c.1974G>A (p.Lys658=)
c.1962G>A (p.Lys654=)
c.1938G>A (p.Lys646=)
c.1284G>A (p.Lys428=)
c.1239G>A (p.Lys413=)
c.1224G>A (p.Lys408=)
c.1038G>A (p.Lys346=)
n.656-2705C>T
n.1152G>A
5g.143281995T>ACA361868624NR3C1c.2228A>T (p.Lys743Met)
c.2135A>T (p.Lys712Met)
c.2231A>T (p.Lys744Met)
c.2181+573A>T (n.2181+573A>T)
c.2150A>T (p.Lys717Met)
c.1973A>T (p.Lys658Met)
c.1961A>T (p.Lys654Met)
c.1937A>T (p.Lys646Met)
c.1283A>T (p.Lys428Met)
c.1238A>T (p.Lys413Met)
c.1223A>T (p.Lys408Met)
c.1037A>T (p.Lys346Met)
n.656-2704T>A
n.1151A>T
dbSNP
5g.143281995T>CCA361868625NR3C1c.2228A>G (p.Lys743Arg)
c.2135A>G (p.Lys712Arg)
c.2231A>G (p.Lys744Arg)
c.2181+573A>G (n.2181+573A>G)
c.2150A>G (p.Lys717Arg)
c.1973A>G (p.Lys658Arg)
c.1961A>G (p.Lys654Arg)
c.1937A>G (p.Lys646Arg)
c.1283A>G (p.Lys428Arg)
c.1238A>G (p.Lys413Arg)
c.1223A>G (p.Lys408Arg)
c.1037A>G (p.Lys346Arg)
n.656-2704T>C
n.1151A>G
5g.143281995T>GCA361868626NR3C1c.2228A>C (p.Lys743Thr)
c.2135A>C (p.Lys712Thr)
c.2231A>C (p.Lys744Thr)
c.2181+573A>C (n.2181+573A>C)
c.2150A>C (p.Lys717Thr)
c.1973A>C (p.Lys658Thr)
c.1961A>C (p.Lys654Thr)
c.1937A>C (p.Lys646Thr)
c.1283A>C (p.Lys428Thr)
c.1238A>C (p.Lys413Thr)
c.1223A>C (p.Lys408Thr)
c.1037A>C (p.Lys346Thr)
n.656-2704T>G
n.1151A>C
5g.143281996T>ACA361868627NR3C1c.2227A>T (p.Lys743Ter)
c.2134A>T (p.Lys712Ter)
c.2230A>T (p.Lys744Ter)
c.2181+572A>T (n.2181+572A>T)
c.2149A>T (p.Lys717Ter)
c.1972A>T (p.Lys658Ter)
c.1960A>T (p.Lys654Ter)
c.1936A>T (p.Lys646Ter)
c.1282A>T (p.Lys428Ter)
c.1237A>T (p.Lys413Ter)
c.1222A>T (p.Lys408Ter)
c.1036A>T (p.Lys346Ter)
n.656-2703T>A
n.1150A>T
5g.143281996T>CCA361868628NR3C1c.2227A>G (p.Lys743Glu)
c.2134A>G (p.Lys712Glu)
c.2230A>G (p.Lys744Glu)
c.2181+572A>G (n.2181+572A>G)
c.2149A>G (p.Lys717Glu)
c.1972A>G (p.Lys658Glu)
c.1960A>G (p.Lys654Glu)
c.1936A>G (p.Lys646Glu)
c.1282A>G (p.Lys428Glu)
c.1237A>G (p.Lys413Glu)
c.1222A>G (p.Lys408Glu)
c.1036A>G (p.Lys346Glu)
n.656-2703T>C
n.1150A>G
dbSNP gnomAD v2 gnomAD v4
5g.143281996T>GCA361868629NR3C1c.2227A>C (p.Lys743Gln)
c.2134A>C (p.Lys712Gln)
c.2230A>C (p.Lys744Gln)
c.2181+572A>C (n.2181+572A>C)
c.2149A>C (p.Lys717Gln)
c.1972A>C (p.Lys658Gln)
c.1960A>C (p.Lys654Gln)
c.1936A>C (p.Lys646Gln)
c.1282A>C (p.Lys428Gln)
c.1237A>C (p.Lys413Gln)
c.1222A>C (p.Lys408Gln)
c.1036A>C (p.Lys346Gln)
n.656-2703T>G
n.1150A>C
5g.143281997A>CCA361868630NR3C1c.2226T>G (p.Asp742Glu)
c.2133T>G (p.Asp711Glu)
c.2229T>G (p.Asp743Glu)
c.2181+571T>G (n.2181+571T>G)
c.2148T>G (p.Asp716Glu)
c.1971T>G (p.Asp657Glu)
c.1959T>G (p.Asp653Glu)
c.1935T>G (p.Asp645Glu)
c.1281T>G (p.Asp427Glu)
c.1236T>G (p.Asp412Glu)
c.1221T>G (p.Asp407Glu)
c.1035T>G (p.Asp345Glu)
n.656-2702A>C
n.1149T>G
5g.143281997A>GCA446961881NR3C1c.2226T>C (p.Asp742=)
c.2133T>C (p.Asp711=)
c.2229T>C (p.Asp743=)
c.2181+571T>C (n.2181+571T>C)
c.2148T>C (p.Asp716=)
c.1971T>C (p.Asp657=)
c.1959T>C (p.Asp653=)
c.1935T>C (p.Asp645=)
c.1281T>C (p.Asp427=)
c.1236T>C (p.Asp412=)
c.1221T>C (p.Asp407=)
c.1035T>C (p.Asp345=)
n.656-2702A>G
n.1149T>C
5g.143281997A>TCA361868631NR3C1c.2226T>A (p.Asp742Glu)
c.2133T>A (p.Asp711Glu)
c.2229T>A (p.Asp743Glu)
c.2181+571T>A (n.2181+571T>A)
c.2148T>A (p.Asp716Glu)
c.1971T>A (p.Asp657Glu)
c.1959T>A (p.Asp653Glu)
c.1935T>A (p.Asp645Glu)
c.1281T>A (p.Asp427Glu)
c.1236T>A (p.Asp412Glu)
c.1221T>A (p.Asp407Glu)
c.1035T>A (p.Asp345Glu)
n.656-2702A>T
n.1149T>A
5g.143281998T>ACA361868632NR3C1c.2225A>T (p.Asp742Val)
c.2132A>T (p.Asp711Val)
c.2228A>T (p.Asp743Val)
c.2181+570A>T (n.2181+570A>T)
c.2147A>T (p.Asp716Val)
c.1970A>T (p.Asp657Val)
c.1958A>T (p.Asp653Val)
c.1934A>T (p.Asp645Val)
c.1280A>T (p.Asp427Val)
c.1235A>T (p.Asp412Val)
c.1220A>T (p.Asp407Val)
c.1034A>T (p.Asp345Val)
n.656-2701T>A
n.1148A>T
dbSNP gnomAD v2 gnomAD v4
5g.143281998T>CCA361868633NR3C1c.2225A>G (p.Asp742Gly)
c.2132A>G (p.Asp711Gly)
c.2228A>G (p.Asp743Gly)
c.2181+570A>G (n.2181+570A>G)
c.2147A>G (p.Asp716Gly)
c.1970A>G (p.Asp657Gly)
c.1958A>G (p.Asp653Gly)
c.1934A>G (p.Asp645Gly)
c.1280A>G (p.Asp427Gly)
c.1235A>G (p.Asp412Gly)
c.1220A>G (p.Asp407Gly)
c.1034A>G (p.Asp345Gly)
n.656-2701T>C
n.1148A>G
5g.143281998T>GCA361868634NR3C1c.2225A>C (p.Asp742Ala)
c.2132A>C (p.Asp711Ala)
c.2228A>C (p.Asp743Ala)
c.2181+570A>C (n.2181+570A>C)
c.2147A>C (p.Asp716Ala)
c.1970A>C (p.Asp657Ala)
c.1958A>C (p.Asp653Ala)
c.1934A>C (p.Asp645Ala)
c.1280A>C (p.Asp427Ala)
c.1235A>C (p.Asp412Ala)
c.1220A>C (p.Asp407Ala)
c.1034A>C (p.Asp345Ala)
n.656-2701T>G
n.1148A>C
5g.143281999C>ACA361868635NR3C1c.2224G>T (p.Asp742Tyr)
c.2131G>T (p.Asp711Tyr)
c.2227G>T (p.Asp743Tyr)
c.2181+569G>T (n.2181+569G>T)
c.2146G>T (p.Asp716Tyr)
c.1969G>T (p.Asp657Tyr)
c.1957G>T (p.Asp653Tyr)
c.1933G>T (p.Asp645Tyr)
c.1279G>T (p.Asp427Tyr)
c.1234G>T (p.Asp412Tyr)
c.1219G>T (p.Asp407Tyr)
c.1033G>T (p.Asp345Tyr)
n.656-2700C>A
n.1147G>T
5g.143281999C>GCA361868636NR3C1c.2224G>C (p.Asp742His)
c.2131G>C (p.Asp711His)
c.2227G>C (p.Asp743His)
c.2181+569G>C (n.2181+569G>C)
c.2146G>C (p.Asp716His)
c.1969G>C (p.Asp657His)
c.1957G>C (p.Asp653His)
c.1933G>C (p.Asp645His)
c.1279G>C (p.Asp427His)
c.1234G>C (p.Asp412His)
c.1219G>C (p.Asp407His)
c.1033G>C (p.Asp345His)
n.656-2700C>G
n.1147G>C
5g.143281999C>TCA361868637NR3C1c.2224G>A (p.Asp742Asn)
c.2131G>A (p.Asp711Asn)
c.2227G>A (p.Asp743Asn)
c.2181+569G>A (n.2181+569G>A)
c.2146G>A (p.Asp716Asn)
c.1969G>A (p.Asp657Asn)
c.1957G>A (p.Asp653Asn)
c.1933G>A (p.Asp645Asn)
c.1279G>A (p.Asp427Asn)
c.1234G>A (p.Asp412Asn)
c.1219G>A (p.Asp407Asn)
c.1033G>A (p.Asp345Asn)
n.656-2700C>T
n.1147G>A
5g.143282000C>ACA3486689NR3C1c.2223G>T (p.Leu741Phe)
c.2130G>T (p.Leu710Phe)
c.2226G>T (p.Leu742Phe)
c.2181+568G>T (n.2181+568G>T)
c.2145G>T (p.Leu715Phe)
c.1968G>T (p.Leu656Phe)
c.1956G>T (p.Leu652Phe)
c.1932G>T (p.Leu644Phe)
c.1278G>T (p.Leu426Phe)
c.1233G>T (p.Leu411Phe)
c.1218G>T (p.Leu406Phe)
c.1032G>T (p.Leu344Phe)
n.656-2699C>A
n.1146G>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.143282000C>GCA361868638NR3C1c.2223G>C (p.Leu741Phe)
c.2130G>C (p.Leu710Phe)
c.2226G>C (p.Leu742Phe)
c.2181+568G>C (n.2181+568G>C)
c.2145G>C (p.Leu715Phe)
c.1968G>C (p.Leu656Phe)
c.1956G>C (p.Leu652Phe)
c.1932G>C (p.Leu644Phe)
c.1278G>C (p.Leu426Phe)
c.1233G>C (p.Leu411Phe)
c.1218G>C (p.Leu406Phe)
c.1032G>C (p.Leu344Phe)
n.656-2699C>G
n.1146G>C
5g.143282000C>TCA446961882NR3C1c.2223G>A (p.Leu741=)
c.2130G>A (p.Leu710=)
c.2226G>A (p.Leu742=)
c.2181+568G>A (n.2181+568G>A)
c.2145G>A (p.Leu715=)
c.1968G>A (p.Leu656=)
c.1956G>A (p.Leu652=)
c.1932G>A (p.Leu644=)
c.1278G>A (p.Leu426=)
c.1233G>A (p.Leu411=)
c.1218G>A (p.Leu406=)
c.1032G>A (p.Leu344=)
n.656-2699C>T
n.1146G>A
5g.143282001A>CCA361868639NR3C1c.2222T>G (p.Leu741Trp)
c.2129T>G (p.Leu710Trp)
c.2225T>G (p.Leu742Trp)
c.2181+567T>G (n.2181+567T>G)
c.2144T>G (p.Leu715Trp)
c.1967T>G (p.Leu656Trp)
c.1955T>G (p.Leu652Trp)
c.1931T>G (p.Leu644Trp)
c.1277T>G (p.Leu426Trp)
c.1232T>G (p.Leu411Trp)
c.1217T>G (p.Leu406Trp)
c.1031T>G (p.Leu344Trp)
n.656-2698A>C
n.1145T>G
5g.143282001A>GCA361868640NR3C1c.2222T>C (p.Leu741Ser)
c.2129T>C (p.Leu710Ser)
c.2225T>C (p.Leu742Ser)
c.2181+567T>C (n.2181+567T>C)
c.2144T>C (p.Leu715Ser)
c.1967T>C (p.Leu656Ser)
c.1955T>C (p.Leu652Ser)
c.1931T>C (p.Leu644Ser)
c.1277T>C (p.Leu426Ser)
c.1232T>C (p.Leu411Ser)
c.1217T>C (p.Leu406Ser)
c.1031T>C (p.Leu344Ser)
n.656-2698A>G
n.1145T>C
5g.143282001A>TCA361868641NR3C1c.2222T>A (p.Leu741Ter)
c.2129T>A (p.Leu710Ter)
c.2225T>A (p.Leu742Ter)
c.2181+567T>A (n.2181+567T>A)
c.2144T>A (p.Leu715Ter)
c.1967T>A (p.Leu656Ter)
c.1955T>A (p.Leu652Ter)
c.1931T>A (p.Leu644Ter)
c.1277T>A (p.Leu426Ter)
c.1232T>A (p.Leu411Ter)
c.1217T>A (p.Leu406Ter)
c.1031T>A (p.Leu344Ter)
n.656-2698A>T
n.1145T>A
5g.143282005dupCA2513544923NR3C1c.2222dup (p.Leu741PhefsTer3)
c.2129dup (p.Leu710PhefsTer3)
c.2225dup (p.Leu742PhefsTer3)
c.2181+567dup (n.2181+567dup)
c.2144dup (p.Leu715PhefsTer3)
c.1967dup (p.Leu656PhefsTer3)
c.1955dup (p.Leu652PhefsTer3)
c.1931dup (p.Leu644PhefsTer3)
c.1277dup (p.Leu426PhefsTer3)
c.1232dup (p.Leu411PhefsTer3)
c.1217dup (p.Leu406PhefsTer3)
c.1031dup (p.Leu344PhefsTer3)
n.656-2694dup
n.1145dup
5g.143282002A>CCA361868642NR3C1c.2221T>G (p.Leu741Val)
c.2128T>G (p.Leu710Val)
c.2224T>G (p.Leu742Val)
c.2181+566T>G (n.2181+566T>G)
c.2143T>G (p.Leu715Val)
c.1966T>G (p.Leu656Val)
c.1954T>G (p.Leu652Val)
c.1930T>G (p.Leu644Val)
c.1276T>G (p.Leu426Val)
c.1231T>G (p.Leu411Val)
c.1216T>G (p.Leu406Val)
c.1030T>G (p.Leu344Val)
n.656-2697A>C
n.1144T>G
gnomAD v4
5g.143282002A>GCA446961883NR3C1c.2221T>C (p.Leu741=)
c.2128T>C (p.Leu710=)
c.2224T>C (p.Leu742=)
c.2181+566T>C (n.2181+566T>C)
c.2143T>C (p.Leu715=)
c.1966T>C (p.Leu656=)
c.1954T>C (p.Leu652=)
c.1930T>C (p.Leu644=)
c.1276T>C (p.Leu426=)
c.1231T>C (p.Leu411=)
c.1216T>C (p.Leu406=)
c.1030T>C (p.Leu344=)
n.656-2697A>G
n.1144T>C
5g.143282002A>TCA361868643NR3C1c.2221T>A (p.Leu741Met)
c.2128T>A (p.Leu710Met)
c.2224T>A (p.Leu742Met)
c.2181+566T>A (n.2181+566T>A)
c.2143T>A (p.Leu715Met)
c.1966T>A (p.Leu656Met)
c.1954T>A (p.Leu652Met)
c.1930T>A (p.Leu644Met)
c.1276T>A (p.Leu426Met)
c.1231T>A (p.Leu411Met)
c.1216T>A (p.Leu406Met)
c.1030T>A (p.Leu344Met)
n.656-2697A>T
n.1144T>A
5g.143282003A>CCA361868645NR3C1c.2220T>G (p.Phe740Leu)
c.2127T>G (p.Phe709Leu)
c.2223T>G (p.Phe741Leu)
c.2181+565T>G (n.2181+565T>G)
c.2142T>G (p.Phe714Leu)
c.1965T>G (p.Phe655Leu)
c.1953T>G (p.Phe651Leu)
c.1929T>G (p.Phe643Leu)
c.1275T>G (p.Phe425Leu)
c.1230T>G (p.Phe410Leu)
c.1215T>G (p.Phe405Leu)
c.1029T>G (p.Phe343Leu)
n.656-2696A>C
n.1143T>G
5g.143282003A>GCA446961884NR3C1c.2220T>C (p.Phe740=)
c.2127T>C (p.Phe709=)
c.2223T>C (p.Phe741=)
c.2181+565T>C (n.2181+565T>C)
c.2142T>C (p.Phe714=)
c.1965T>C (p.Phe655=)
c.1953T>C (p.Phe651=)
c.1929T>C (p.Phe643=)
c.1275T>C (p.Phe425=)
c.1230T>C (p.Phe410=)
c.1215T>C (p.Phe405=)
c.1029T>C (p.Phe343=)
n.656-2696A>G
n.1143T>C
5g.143282003A>TCA361868644NR3C1c.2220T>A (p.Phe740Leu)
c.2127T>A (p.Phe709Leu)
c.2223T>A (p.Phe741Leu)
c.2181+565T>A (n.2181+565T>A)
c.2142T>A (p.Phe714Leu)
c.1965T>A (p.Phe655Leu)
c.1953T>A (p.Phe651Leu)
c.1929T>A (p.Phe643Leu)
c.1275T>A (p.Phe425Leu)
c.1230T>A (p.Phe410Leu)
c.1215T>A (p.Phe405Leu)
c.1029T>A (p.Phe343Leu)
n.656-2696A>T
n.1143T>A
5g.143282004A>CCA361868646NR3C1c.2219T>G (p.Phe740Cys)
c.2126T>G (p.Phe709Cys)
c.2222T>G (p.Phe741Cys)
c.2181+564T>G (n.2181+564T>G)
c.2141T>G (p.Phe714Cys)
c.1964T>G (p.Phe655Cys)
c.1952T>G (p.Phe651Cys)
c.1928T>G (p.Phe643Cys)
c.1274T>G (p.Phe425Cys)
c.1229T>G (p.Phe410Cys)
c.1214T>G (p.Phe405Cys)
c.1028T>G (p.Phe343Cys)
n.656-2695A>C
n.1142T>G
5g.143282004A>GCA361868648NR3C1c.2219T>C (p.Phe740Ser)
c.2126T>C (p.Phe709Ser)
c.2222T>C (p.Phe741Ser)
c.2181+564T>C (n.2181+564T>C)
c.2141T>C (p.Phe714Ser)
c.1964T>C (p.Phe655Ser)
c.1952T>C (p.Phe651Ser)
c.1928T>C (p.Phe643Ser)
c.1274T>C (p.Phe425Ser)
c.1229T>C (p.Phe410Ser)
c.1214T>C (p.Phe405Ser)
c.1028T>C (p.Phe343Ser)
n.656-2695A>G
n.1142T>C
5g.143282004A>TCA361868647NR3C1c.2219T>A (p.Phe740Tyr)
c.2126T>A (p.Phe709Tyr)
c.2222T>A (p.Phe741Tyr)
c.2181+564T>A (n.2181+564T>A)
c.2141T>A (p.Phe714Tyr)
c.1964T>A (p.Phe655Tyr)
c.1952T>A (p.Phe651Tyr)
c.1928T>A (p.Phe643Tyr)
c.1274T>A (p.Phe425Tyr)
c.1229T>A (p.Phe410Tyr)
c.1214T>A (p.Phe405Tyr)
c.1028T>A (p.Phe343Tyr)
n.656-2695A>T
n.1142T>A
5g.143282005A>CCA361868649NR3C1c.2218T>G (p.Phe740Val)
c.2125T>G (p.Phe709Val)
c.2221T>G (p.Phe741Val)
c.2181+563T>G (n.2181+563T>G)
c.2140T>G (p.Phe714Val)
c.1963T>G (p.Phe655Val)
c.1951T>G (p.Phe651Val)
c.1927T>G (p.Phe643Val)
c.1273T>G (p.Phe425Val)
c.1228T>G (p.Phe410Val)
c.1213T>G (p.Phe405Val)
c.1027T>G (p.Phe343Val)
n.656-2694A>C
n.1141T>G
5g.143282005A>GCA361868650NR3C1c.2218T>C (p.Phe740Leu)
c.2125T>C (p.Phe709Leu)
c.2221T>C (p.Phe741Leu)
c.2181+563T>C (n.2181+563T>C)
c.2140T>C (p.Phe714Leu)
c.1963T>C (p.Phe655Leu)
c.1951T>C (p.Phe651Leu)
c.1927T>C (p.Phe643Leu)
c.1273T>C (p.Phe425Leu)
c.1228T>C (p.Phe410Leu)
c.1213T>C (p.Phe405Leu)
c.1027T>C (p.Phe343Leu)
n.656-2694A>G
n.1141T>C
5g.143282005A>TCA361868651NR3C1c.2218T>A (p.Phe740Ile)
c.2125T>A (p.Phe709Ile)
c.2221T>A (p.Phe741Ile)
c.2181+563T>A (n.2181+563T>A)
c.2140T>A (p.Phe714Ile)
c.1963T>A (p.Phe655Ile)
c.1951T>A (p.Phe651Ile)
c.1927T>A (p.Phe643Ile)
c.1273T>A (p.Phe425Ile)
c.1228T>A (p.Phe410Ile)
c.1213T>A (p.Phe405Ile)
c.1027T>A (p.Phe343Ile)
n.656-2694A>T
n.1141T>A
5g.143282006T>ACA446961885NR3C1c.2217A>T (p.Thr739=)
c.2124A>T (p.Thr708=)
c.2220A>T (p.Thr740=)
c.2181+562A>T (n.2181+562A>T)
c.2139A>T (p.Thr713=)
c.1962A>T (p.Thr654=)
c.1950A>T (p.Thr650=)
c.1926A>T (p.Thr642=)
c.1272A>T (p.Thr424=)
c.1227A>T (p.Thr409=)
c.1212A>T (p.Thr404=)
c.1026A>T (p.Thr342=)
n.656-2693T>A
n.1140A>T
5g.143282006T>CCA446961886NR3C1c.2217A>G (p.Thr739=)
c.2124A>G (p.Thr708=)
c.2220A>G (p.Thr740=)
c.2181+562A>G (n.2181+562A>G)
c.2139A>G (p.Thr713=)
c.1962A>G (p.Thr654=)
c.1950A>G (p.Thr650=)
c.1926A>G (p.Thr642=)
c.1272A>G (p.Thr424=)
c.1227A>G (p.Thr409=)
c.1212A>G (p.Thr404=)
c.1026A>G (p.Thr342=)
n.656-2693T>C
n.1140A>G
5g.143282006T>GCA446961887NR3C1c.2217A>C (p.Thr739=)
c.2124A>C (p.Thr708=)
c.2220A>C (p.Thr740=)
c.2181+562A>C (n.2181+562A>C)
c.2139A>C (p.Thr713=)
c.1962A>C (p.Thr654=)
c.1950A>C (p.Thr650=)
c.1926A>C (p.Thr642=)
c.1272A>C (p.Thr424=)
c.1227A>C (p.Thr409=)
c.1212A>C (p.Thr404=)
c.1026A>C (p.Thr342=)
n.656-2693T>G
n.1140A>C
5g.143282007G>ACA361868652NR3C1c.2216C>T (p.Thr739Ile)
c.2123C>T (p.Thr708Ile)
c.2219C>T (p.Thr740Ile)
c.2181+561C>T (n.2181+561C>T)
c.2138C>T (p.Thr713Ile)
c.1961C>T (p.Thr654Ile)
c.1949C>T (p.Thr650Ile)
c.1925C>T (p.Thr642Ile)
c.1271C>T (p.Thr424Ile)
c.1226C>T (p.Thr409Ile)
c.1211C>T (p.Thr404Ile)
c.1025C>T (p.Thr342Ile)
n.656-2692G>A
n.1139C>T
5g.143282007G>CCA361868653NR3C1c.2216C>G (p.Thr739Arg)
c.2123C>G (p.Thr708Arg)
c.2219C>G (p.Thr740Arg)
c.2181+561C>G (n.2181+561C>G)
c.2138C>G (p.Thr713Arg)
c.1961C>G (p.Thr654Arg)
c.1949C>G (p.Thr650Arg)
c.1925C>G (p.Thr642Arg)
c.1271C>G (p.Thr424Arg)
c.1226C>G (p.Thr409Arg)
c.1211C>G (p.Thr404Arg)
c.1025C>G (p.Thr342Arg)
n.656-2692G>C
n.1139C>G
5g.143282007G>TCA361868654NR3C1c.2216C>A (p.Thr739Lys)
c.2123C>A (p.Thr708Lys)
c.2219C>A (p.Thr740Lys)
c.2181+561C>A (n.2181+561C>A)
c.2138C>A (p.Thr713Lys)
c.1961C>A (p.Thr654Lys)
c.1949C>A (p.Thr650Lys)
c.1925C>A (p.Thr642Lys)
c.1271C>A (p.Thr424Lys)
c.1226C>A (p.Thr409Lys)
c.1211C>A (p.Thr404Lys)
c.1025C>A (p.Thr342Lys)
n.656-2692G>T
n.1139C>A
5g.143282008T>ACA361868655NR3C1c.2215A>T (p.Thr739Ser)
c.2122A>T (p.Thr708Ser)
c.2218A>T (p.Thr740Ser)
c.2181+560A>T (n.2181+560A>T)
c.2137A>T (p.Thr713Ser)
c.1960A>T (p.Thr654Ser)
c.1948A>T (p.Thr650Ser)
c.1924A>T (p.Thr642Ser)
c.1270A>T (p.Thr424Ser)
c.1225A>T (p.Thr409Ser)
c.1210A>T (p.Thr404Ser)
c.1024A>T (p.Thr342Ser)
n.656-2691T>A
n.1138A>T
5g.143282008T>CCA361868656NR3C1c.2215A>G (p.Thr739Ala)
c.2122A>G (p.Thr708Ala)
c.2218A>G (p.Thr740Ala)
c.2181+560A>G (n.2181+560A>G)
c.2137A>G (p.Thr713Ala)
c.1960A>G (p.Thr654Ala)
c.1948A>G (p.Thr650Ala)
c.1924A>G (p.Thr642Ala)
c.1270A>G (p.Thr424Ala)
c.1225A>G (p.Thr409Ala)
c.1210A>G (p.Thr404Ala)
c.1024A>G (p.Thr342Ala)
n.656-2691T>C
n.1138A>G
5g.143282008T>GCA361868657NR3C1c.2215A>C (p.Thr739Pro)
c.2122A>C (p.Thr708Pro)
c.2218A>C (p.Thr740Pro)
c.2181+560A>C (n.2181+560A>C)
c.2137A>C (p.Thr713Pro)
c.1960A>C (p.Thr654Pro)
c.1948A>C (p.Thr650Pro)
c.1924A>C (p.Thr642Pro)
c.1270A>C (p.Thr424Pro)
c.1225A>C (p.Thr409Pro)
c.1210A>C (p.Thr404Pro)
c.1024A>C (p.Thr342Pro)
n.656-2691T>G
n.1138A>C
5g.143282010delCA2497120010NR3C1c.2215del (p.Thr739HisfsTer7)
c.2122del (p.Thr708HisfsTer7)
c.2218del (p.Thr740HisfsTer7)
c.2181+560del (n.2181+560del)
c.2137del (p.Thr713HisfsTer7)
c.1960del (p.Thr654HisfsTer7)
c.1948del (p.Thr650HisfsTer7)
c.1924del (p.Thr642HisfsTer7)
c.1270del (p.Thr424HisfsTer7)
c.1225del (p.Thr409HisfsTer7)
c.1210del (p.Thr404HisfsTer7)
c.1024del (p.Thr342HisfsTer7)
n.656-2689del
n.1138del
dbSNP
5g.143282009T>ACA361868658NR3C1c.2214A>T (p.Gln738His)
c.2121A>T (p.Gln707His)
c.2217A>T (p.Gln739His)
c.2181+559A>T (n.2181+559A>T)
c.2136A>T (p.Gln712His)
c.1959A>T (p.Gln653His)
c.1947A>T (p.Gln649His)
c.1923A>T (p.Gln641His)
c.1269A>T (p.Gln423His)
c.1224A>T (p.Gln408His)
c.1209A>T (p.Gln403His)
c.1023A>T (p.Gln341His)
n.656-2690T>A
n.1137A>T
5g.143282009T>CCA129252229NR3C1c.2214A>G (p.Gln738=)
c.2121A>G (p.Gln707=)
c.2217A>G (p.Gln739=)
c.2181+559A>G (n.2181+559A>G)
c.2136A>G (p.Gln712=)
c.1959A>G (p.Gln653=)
c.1947A>G (p.Gln649=)
c.1923A>G (p.Gln641=)
c.1269A>G (p.Gln423=)
c.1224A>G (p.Gln408=)
c.1209A>G (p.Gln403=)
c.1023A>G (p.Gln341=)
n.656-2690T>C
n.1137A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.143282009T>GCA361868659NR3C1c.2214A>C (p.Gln738His)
c.2121A>C (p.Gln707His)
c.2217A>C (p.Gln739His)
c.2181+559A>C (n.2181+559A>C)
c.2136A>C (p.Gln712His)
c.1959A>C (p.Gln653His)
c.1947A>C (p.Gln649His)
c.1923A>C (p.Gln641His)
c.1269A>C (p.Gln423His)
c.1224A>C (p.Gln408His)
c.1209A>C (p.Gln403His)
c.1023A>C (p.Gln341His)
n.656-2690T>G
n.1137A>C
gnomAD v4
5g.143282010T>ACA361868662NR3C1c.2213A>T (p.Gln738Leu)
c.2120A>T (p.Gln707Leu)
c.2216A>T (p.Gln739Leu)
c.2181+558A>T (n.2181+558A>T)
c.2135A>T (p.Gln712Leu)
c.1958A>T (p.Gln653Leu)
c.1946A>T (p.Gln649Leu)
c.1922A>T (p.Gln641Leu)
c.1268A>T (p.Gln423Leu)
c.1223A>T (p.Gln408Leu)
c.1208A>T (p.Gln403Leu)
c.1022A>T (p.Gln341Leu)
n.656-2689T>A
n.1136A>T
5g.143282010T>CCA361868660NR3C1c.2213A>G (p.Gln738Arg)
c.2120A>G (p.Gln707Arg)
c.2216A>G (p.Gln739Arg)
c.2181+558A>G (n.2181+558A>G)
c.2135A>G (p.Gln712Arg)
c.1958A>G (p.Gln653Arg)
c.1946A>G (p.Gln649Arg)
c.1922A>G (p.Gln641Arg)
c.1268A>G (p.Gln423Arg)
c.1223A>G (p.Gln408Arg)
c.1208A>G (p.Gln403Arg)
c.1022A>G (p.Gln341Arg)
n.656-2689T>C
n.1136A>G
5g.143282010T>GCA361868661NR3C1c.2213A>C (p.Gln738Pro)
c.2120A>C (p.Gln707Pro)
c.2216A>C (p.Gln739Pro)
c.2181+558A>C (n.2181+558A>C)
c.2135A>C (p.Gln712Pro)
c.1958A>C (p.Gln653Pro)
c.1946A>C (p.Gln649Pro)
c.1922A>C (p.Gln641Pro)
c.1268A>C (p.Gln423Pro)
c.1223A>C (p.Gln408Pro)
c.1208A>C (p.Gln403Pro)
c.1022A>C (p.Gln341Pro)
n.656-2689T>G
n.1136A>C
5g.143282011G>ACA361868663NR3C1c.2212C>T (p.Gln738Ter)
c.2119C>T (p.Gln707Ter)
c.2215C>T (p.Gln739Ter)
c.2181+557C>T (n.2181+557C>T)
c.2134C>T (p.Gln712Ter)
c.1957C>T (p.Gln653Ter)
c.1945C>T (p.Gln649Ter)
c.1921C>T (p.Gln641Ter)
c.1267C>T (p.Gln423Ter)
c.1222C>T (p.Gln408Ter)
c.1207C>T (p.Gln403Ter)
c.1021C>T (p.Gln341Ter)
n.656-2688G>A
n.1135C>T
5g.143282011G>CCA361868664NR3C1c.2212C>G (p.Gln738Glu)
c.2119C>G (p.Gln707Glu)
c.2215C>G (p.Gln739Glu)
c.2181+557C>G (n.2181+557C>G)
c.2134C>G (p.Gln712Glu)
c.1957C>G (p.Gln653Glu)
c.1945C>G (p.Gln649Glu)
c.1921C>G (p.Gln641Glu)
c.1267C>G (p.Gln423Glu)
c.1222C>G (p.Gln408Glu)
c.1207C>G (p.Gln403Glu)
c.1021C>G (p.Gln341Glu)
n.656-2688G>C
n.1135C>G
5g.143282011G>TCA361868665NR3C1c.2212C>A (p.Gln738Lys)
c.2119C>A (p.Gln707Lys)
c.2215C>A (p.Gln739Lys)
c.2181+557C>A (n.2181+557C>A)
c.2134C>A (p.Gln712Lys)
c.1957C>A (p.Gln653Lys)
c.1945C>A (p.Gln649Lys)
c.1921C>A (p.Gln641Lys)
c.1267C>A (p.Gln423Lys)
c.1222C>A (p.Gln408Lys)
c.1207C>A (p.Gln403Lys)
c.1021C>A (p.Gln341Lys)
n.656-2688G>T
n.1135C>A
5g.143282012G>ACA446961888NR3C1c.2211C>T (p.Phe737=)
c.2118C>T (p.Phe706=)
c.2214C>T (p.Phe738=)
c.2181+556C>T (n.2181+556C>T)
c.2133C>T (p.Phe711=)
c.1956C>T (p.Phe652=)
c.1944C>T (p.Phe648=)
c.1920C>T (p.Phe640=)
c.1266C>T (p.Phe422=)
c.1221C>T (p.Phe407=)
c.1206C>T (p.Phe402=)
c.1020C>T (p.Phe340=)
n.656-2687G>A
n.1134C>T
COSMIC
5g.143282012G>CCA361868666NR3C1c.2211C>G (p.Phe737Leu)
c.2118C>G (p.Phe706Leu)
c.2214C>G (p.Phe738Leu)
c.2181+556C>G (n.2181+556C>G)
c.2133C>G (p.Phe711Leu)
c.1956C>G (p.Phe652Leu)
c.1944C>G (p.Phe648Leu)
c.1920C>G (p.Phe640Leu)
c.1266C>G (p.Phe422Leu)
c.1221C>G (p.Phe407Leu)
c.1206C>G (p.Phe402Leu)
c.1020C>G (p.Phe340Leu)
n.656-2687G>C
n.1134C>G
5g.143282012G>TCA361868667NR3C1c.2211C>A (p.Phe737Leu)
c.2118C>A (p.Phe706Leu)
c.2214C>A (p.Phe738Leu)
c.2181+556C>A (n.2181+556C>A)
c.2133C>A (p.Phe711Leu)
c.1956C>A (p.Phe652Leu)
c.1944C>A (p.Phe648Leu)
c.1920C>A (p.Phe640Leu)
c.1266C>A (p.Phe422Leu)
c.1221C>A (p.Phe407Leu)
c.1206C>A (p.Phe402Leu)
c.1020C>A (p.Phe340Leu)
n.656-2687G>T
n.1134C>A
5g.143282013A>CCA361868668NR3C1c.2210T>G (p.Phe737Cys)
c.2117T>G (p.Phe706Cys)
c.2213T>G (p.Phe738Cys)
c.2181+555T>G (n.2181+555T>G)
c.2132T>G (p.Phe711Cys)
c.1955T>G (p.Phe652Cys)
c.1943T>G (p.Phe648Cys)
c.1919T>G (p.Phe640Cys)
c.1265T>G (p.Phe422Cys)
c.1220T>G (p.Phe407Cys)
c.1205T>G (p.Phe402Cys)
c.1019T>G (p.Phe340Cys)
n.656-2686A>C
n.1133T>G
5g.143282013A>GCA361868669NR3C1c.2210T>C (p.Phe737Ser)
c.2117T>C (p.Phe706Ser)
c.2213T>C (p.Phe738Ser)
c.2181+555T>C (n.2181+555T>C)
c.2132T>C (p.Phe711Ser)
c.1955T>C (p.Phe652Ser)
c.1943T>C (p.Phe648Ser)
c.1919T>C (p.Phe640Ser)
c.1265T>C (p.Phe422Ser)
c.1220T>C (p.Phe407Ser)
c.1205T>C (p.Phe402Ser)
c.1019T>C (p.Phe340Ser)
n.656-2686A>G
n.1133T>C
5g.143282013A>TCA361868670NR3C1c.2210T>A (p.Phe737Tyr)
c.2117T>A (p.Phe706Tyr)
c.2213T>A (p.Phe738Tyr)
c.2181+555T>A (n.2181+555T>A)
c.2132T>A (p.Phe711Tyr)
c.1955T>A (p.Phe652Tyr)
c.1943T>A (p.Phe648Tyr)
c.1919T>A (p.Phe640Tyr)
c.1265T>A (p.Phe422Tyr)
c.1220T>A (p.Phe407Tyr)
c.1205T>A (p.Phe402Tyr)
c.1019T>A (p.Phe340Tyr)
n.656-2686A>T
n.1133T>A
5g.143282014A>CCA361868671NR3C1c.2209T>G (p.Phe737Val)
c.2116T>G (p.Phe706Val)
c.2212T>G (p.Phe738Val)
c.2181+554T>G (n.2181+554T>G)
c.2131T>G (p.Phe711Val)
c.1954T>G (p.Phe652Val)
c.1942T>G (p.Phe648Val)
c.1918T>G (p.Phe640Val)
c.1264T>G (p.Phe422Val)
c.1219T>G (p.Phe407Val)
c.1204T>G (p.Phe402Val)
c.1018T>G (p.Phe340Val)
n.656-2685A>C
n.1132T>G
5g.143282014A>GCA126240NR3C1c.2209T>C (p.Phe737Leu)
c.2116T>C (p.Phe706Leu)
c.2212T>C (p.Phe738Leu)
c.2181+554T>C (n.2181+554T>C)
c.2131T>C (p.Phe711Leu)
c.1954T>C (p.Phe652Leu)
c.1942T>C (p.Phe648Leu)
c.1918T>C (p.Phe640Leu)
c.1264T>C (p.Phe422Leu)
c.1219T>C (p.Phe407Leu)
c.1204T>C (p.Phe402Leu)
c.1018T>C (p.Phe340Leu)
n.656-2685A>G
n.1132T>C
ClinVar dbSNP
5g.143282014A>TCA361868672NR3C1c.2209T>A (p.Phe737Ile)
c.2116T>A (p.Phe706Ile)
c.2212T>A (p.Phe738Ile)
c.2181+554T>A (n.2181+554T>A)
c.2131T>A (p.Phe711Ile)
c.1954T>A (p.Phe652Ile)
c.1942T>A (p.Phe648Ile)
c.1918T>A (p.Phe640Ile)
c.1264T>A (p.Phe422Ile)
c.1219T>A (p.Phe407Ile)
c.1204T>A (p.Phe402Ile)
c.1018T>A (p.Phe340Ile)
n.656-2685A>T
n.1132T>A
5g.143282015G>ACA446961889NR3C1c.2208C>T (p.Cys736=)
c.2115C>T (p.Cys705=)
c.2211C>T (p.Cys737=)
c.2181+553C>T (n.2181+553C>T)
c.2130C>T (p.Cys710=)
c.1953C>T (p.Cys651=)
c.1941C>T (p.Cys647=)
c.1917C>T (p.Cys639=)
c.1263C>T (p.Cys421=)
c.1218C>T (p.Cys406=)
c.1203C>T (p.Cys401=)
c.1017C>T (p.Cys339=)
n.656-2684G>A
n.1131C>T
5g.143282015G>CCA361868674NR3C1c.2208C>G (p.Cys736Trp)
c.2115C>G (p.Cys705Trp)
c.2211C>G (p.Cys737Trp)
c.2181+553C>G (n.2181+553C>G)
c.2130C>G (p.Cys710Trp)
c.1953C>G (p.Cys651Trp)
c.1941C>G (p.Cys647Trp)
c.1917C>G (p.Cys639Trp)
c.1263C>G (p.Cys421Trp)
c.1218C>G (p.Cys406Trp)
c.1203C>G (p.Cys401Trp)
c.1017C>G (p.Cys339Trp)
n.656-2684G>C
n.1131C>G
5g.143282015G>TCA361868673NR3C1c.2208C>A (p.Cys736Ter)
c.2115C>A (p.Cys705Ter)
c.2211C>A (p.Cys737Ter)
c.2181+553C>A (n.2181+553C>A)
c.2130C>A (p.Cys710Ter)
c.1953C>A (p.Cys651Ter)
c.1941C>A (p.Cys647Ter)
c.1917C>A (p.Cys639Ter)
c.1263C>A (p.Cys421Ter)
c.1218C>A (p.Cys406Ter)
c.1203C>A (p.Cys401Ter)
c.1017C>A (p.Cys339Ter)
n.656-2684G>T
n.1131C>A
5g.143282016C>ACA361868675NR3C1c.2207G>T (p.Cys736Phe)
c.2114G>T (p.Cys705Phe)
c.2210G>T (p.Cys737Phe)
c.2181+552G>T (n.2181+552G>T)
c.2129G>T (p.Cys710Phe)
c.1952G>T (p.Cys651Phe)
c.1940G>T (p.Cys647Phe)
c.1916G>T (p.Cys639Phe)
c.1262G>T (p.Cys421Phe)
c.1217G>T (p.Cys406Phe)
c.1202G>T (p.Cys401Phe)
c.1016G>T (p.Cys339Phe)
n.656-2683C>A
n.1130G>T
5g.143282016C>GCA361868677NR3C1c.2207G>C (p.Cys736Ser)
c.2114G>C (p.Cys705Ser)
c.2210G>C (p.Cys737Ser)
c.2181+552G>C (n.2181+552G>C)
c.2129G>C (p.Cys710Ser)
c.1952G>C (p.Cys651Ser)
c.1940G>C (p.Cys647Ser)
c.1916G>C (p.Cys639Ser)
c.1262G>C (p.Cys421Ser)
c.1217G>C (p.Cys406Ser)
c.1202G>C (p.Cys401Ser)
c.1016G>C (p.Cys339Ser)
n.656-2683C>G
n.1130G>C
5g.143282016C>TCA361868676NR3C1c.2207G>A (p.Cys736Tyr)
c.2114G>A (p.Cys705Tyr)
c.2210G>A (p.Cys737Tyr)
c.2181+552G>A (n.2181+552G>A)
c.2129G>A (p.Cys710Tyr)
c.1952G>A (p.Cys651Tyr)
c.1940G>A (p.Cys647Tyr)
c.1916G>A (p.Cys639Tyr)
c.1262G>A (p.Cys421Tyr)
c.1217G>A (p.Cys406Tyr)
c.1202G>A (p.Cys401Tyr)
c.1016G>A (p.Cys339Tyr)
n.656-2683C>T
n.1130G>A
5g.143282017A>CCA361868678NR3C1c.2206T>G (p.Cys736Gly)
c.2113T>G (p.Cys705Gly)
c.2209T>G (p.Cys737Gly)
c.2181+551T>G (n.2181+551T>G)
c.2128T>G (p.Cys710Gly)
c.1951T>G (p.Cys651Gly)
c.1939T>G (p.Cys647Gly)
c.1915T>G (p.Cys639Gly)
c.1261T>G (p.Cys421Gly)
c.1216T>G (p.Cys406Gly)
c.1201T>G (p.Cys401Gly)
c.1015T>G (p.Cys339Gly)
n.656-2682A>C
n.1129T>G
5g.143282017A>GCA361868679NR3C1c.2206T>C (p.Cys736Arg)
c.2113T>C (p.Cys705Arg)
c.2209T>C (p.Cys737Arg)
c.2181+551T>C (n.2181+551T>C)
c.2128T>C (p.Cys710Arg)
c.1951T>C (p.Cys651Arg)
c.1939T>C (p.Cys647Arg)
c.1915T>C (p.Cys639Arg)
c.1261T>C (p.Cys421Arg)
c.1216T>C (p.Cys406Arg)
c.1201T>C (p.Cys401Arg)
c.1015T>C (p.Cys339Arg)
n.656-2682A>G
n.1129T>C
5g.143282017A>TCA361868680NR3C1c.2206T>A (p.Cys736Ser)
c.2113T>A (p.Cys705Ser)
c.2209T>A (p.Cys737Ser)
c.2181+551T>A (n.2181+551T>A)
c.2128T>A (p.Cys710Ser)
c.1951T>A (p.Cys651Ser)
c.1939T>A (p.Cys647Ser)
c.1915T>A (p.Cys639Ser)
c.1261T>A (p.Cys421Ser)
c.1216T>A (p.Cys406Ser)
c.1201T>A (p.Cys401Ser)
c.1015T>A (p.Cys339Ser)
n.656-2682A>T
n.1129T>A
5g.143282018A>CCA361868681NR3C1c.2205T>G (p.Tyr735Ter)
c.2112T>G (p.Tyr704Ter)
c.2208T>G (p.Tyr736Ter)
c.2181+550T>G (n.2181+550T>G)
c.2127T>G (p.Tyr709Ter)
c.1950T>G (p.Tyr650Ter)
c.1938T>G (p.Tyr646Ter)
c.1914T>G (p.Tyr638Ter)
c.1260T>G (p.Tyr420Ter)
c.1215T>G (p.Tyr405Ter)
c.1200T>G (p.Tyr400Ter)
c.1014T>G (p.Tyr338Ter)
n.656-2681A>C
n.1128T>G
5g.143282018A>GCA3486690NR3C1c.2205T>C (p.Tyr735=)
c.2112T>C (p.Tyr704=)
c.2208T>C (p.Tyr736=)
c.2181+550T>C (n.2181+550T>C)
c.2127T>C (p.Tyr709=)
c.1950T>C (p.Tyr650=)
c.1938T>C (p.Tyr646=)
c.1914T>C (p.Tyr638=)
c.1260T>C (p.Tyr420=)
c.1215T>C (p.Tyr405=)
c.1200T>C (p.Tyr400=)
c.1014T>C (p.Tyr338=)
n.656-2681A>G
n.1128T>C
dbSNP ExAC gnomAD v2 gnomAD v4
5g.143282018A>TCA361868682NR3C1c.2205T>A (p.Tyr735Ter)
c.2112T>A (p.Tyr704Ter)
c.2208T>A (p.Tyr736Ter)
c.2181+550T>A (n.2181+550T>A)
c.2127T>A (p.Tyr709Ter)
c.1950T>A (p.Tyr650Ter)
c.1938T>A (p.Tyr646Ter)
c.1914T>A (p.Tyr638Ter)
c.1260T>A (p.Tyr420Ter)
c.1215T>A (p.Tyr405Ter)
c.1200T>A (p.Tyr400Ter)
c.1014T>A (p.Tyr338Ter)
n.656-2681A>T
n.1128T>A
5g.143282019T>ACA361868683NR3C1c.2204A>T (p.Tyr735Phe)
c.2111A>T (p.Tyr704Phe)
c.2207A>T (p.Tyr736Phe)
c.2181+549A>T (n.2181+549A>T)
c.2126A>T (p.Tyr709Phe)
c.1949A>T (p.Tyr650Phe)
c.1937A>T (p.Tyr646Phe)
c.1913A>T (p.Tyr638Phe)
c.1259A>T (p.Tyr420Phe)
c.1214A>T (p.Tyr405Phe)
c.1199A>T (p.Tyr400Phe)
c.1013A>T (p.Tyr338Phe)
n.656-2680T>A
n.1127A>T
5g.143282019T>CCA3486691NR3C1c.2204A>G (p.Tyr735Cys)
c.2111A>G (p.Tyr704Cys)
c.2207A>G (p.Tyr736Cys)
c.2181+549A>G (n.2181+549A>G)
c.2126A>G (p.Tyr709Cys)
c.1949A>G (p.Tyr650Cys)
c.1937A>G (p.Tyr646Cys)
c.1913A>G (p.Tyr638Cys)
c.1259A>G (p.Tyr420Cys)
c.1214A>G (p.Tyr405Cys)
c.1199A>G (p.Tyr400Cys)
c.1013A>G (p.Tyr338Cys)
n.656-2680T>C
n.1127A>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.143282019T>GCA361868684NR3C1c.2204A>C (p.Tyr735Ser)
c.2111A>C (p.Tyr704Ser)
c.2207A>C (p.Tyr736Ser)
c.2181+549A>C (n.2181+549A>C)
c.2126A>C (p.Tyr709Ser)
c.1949A>C (p.Tyr650Ser)
c.1937A>C (p.Tyr646Ser)
c.1913A>C (p.Tyr638Ser)
c.1259A>C (p.Tyr420Ser)
c.1214A>C (p.Tyr405Ser)
c.1199A>C (p.Tyr400Ser)
c.1013A>C (p.Tyr338Ser)
n.656-2680T>G
n.1127A>C
5g.143282021_143282024delCA2695205347NR3C1c.2201_2204del (p.Asn734IlefsTer11)
c.2108_2111del (p.Asn703IlefsTer11)
c.2204_2207del (p.Asn735IlefsTer11)
c.2181+546_2181+549del (n.2181+546_2181+549del)
c.2123_2126del (p.Asn708IlefsTer11)
c.1946_1949del (p.Asn649IlefsTer11)
c.1934_1937del (p.Asn645IlefsTer11)
c.1910_1913del (p.Asn637IlefsTer11)
c.1256_1259del (p.Asn419IlefsTer11)
c.1211_1214del (p.Asn404IlefsTer11)
c.1196_1199del (p.Asn399IlefsTer11)
c.1010_1013del (p.Asn337IlefsTer11)
n.656-2678_656-2675del
n.1124_1127del
5g.143282020A>CCA361868685NR3C1c.2203T>G (p.Tyr735Asp)
c.2110T>G (p.Tyr704Asp)
c.2206T>G (p.Tyr736Asp)
c.2181+548T>G (n.2181+548T>G)
c.2125T>G (p.Tyr709Asp)
c.1948T>G (p.Tyr650Asp)
c.1936T>G (p.Tyr646Asp)
c.1912T>G (p.Tyr638Asp)
c.1258T>G (p.Tyr420Asp)
c.1213T>G (p.Tyr405Asp)
c.1198T>G (p.Tyr400Asp)
c.1012T>G (p.Tyr338Asp)
n.656-2679A>C
n.1126T>G
5g.143282020A>GCA361868686NR3C1c.2203T>C (p.Tyr735His)
c.2110T>C (p.Tyr704His)
c.2206T>C (p.Tyr736His)
c.2181+548T>C (n.2181+548T>C)
c.2125T>C (p.Tyr709His)
c.1948T>C (p.Tyr650His)
c.1936T>C (p.Tyr646His)
c.1912T>C (p.Tyr638His)
c.1258T>C (p.Tyr420His)
c.1213T>C (p.Tyr405His)
c.1198T>C (p.Tyr400His)
c.1012T>C (p.Tyr338His)
n.656-2679A>G
n.1126T>C
5g.143282020A>TCA361868687NR3C1c.2203T>A (p.Tyr735Asn)
c.2110T>A (p.Tyr704Asn)
c.2206T>A (p.Tyr736Asn)
c.2181+548T>A (n.2181+548T>A)
c.2125T>A (p.Tyr709Asn)
c.1948T>A (p.Tyr650Asn)
c.1936T>A (p.Tyr646Asn)
c.1912T>A (p.Tyr638Asn)
c.1258T>A (p.Tyr420Asn)
c.1213T>A (p.Tyr405Asn)
c.1198T>A (p.Tyr400Asn)
c.1012T>A (p.Tyr338Asn)
n.656-2679A>T
n.1126T>A
5g.143282021G>ACA446961890NR3C1c.2202C>T (p.Asn734=)
c.2109C>T (p.Asn703=)
c.2205C>T (p.Asn735=)
c.2181+547C>T (n.2181+547C>T)
c.2124C>T (p.Asn708=)
c.1947C>T (p.Asn649=)
c.1935C>T (p.Asn645=)
c.1911C>T (p.Asn637=)
c.1257C>T (p.Asn419=)
c.1212C>T (p.Asn404=)
c.1197C>T (p.Asn399=)
c.1011C>T (p.Asn337=)
n.656-2678G>A
n.1125C>T
gnomAD v4
5g.143282021G>CCA361868688NR3C1c.2202C>G (p.Asn734Lys)
c.2109C>G (p.Asn703Lys)
c.2205C>G (p.Asn735Lys)
c.2181+547C>G (n.2181+547C>G)
c.2124C>G (p.Asn708Lys)
c.1947C>G (p.Asn649Lys)
c.1935C>G (p.Asn645Lys)
c.1911C>G (p.Asn637Lys)
c.1257C>G (p.Asn419Lys)
c.1212C>G (p.Asn404Lys)
c.1197C>G (p.Asn399Lys)
c.1011C>G (p.Asn337Lys)
n.656-2678G>C
n.1125C>G
5g.143282021G>TCA361868689NR3C1c.2202C>A (p.Asn734Lys)
c.2109C>A (p.Asn703Lys)
c.2205C>A (p.Asn735Lys)
c.2181+547C>A (n.2181+547C>A)
c.2124C>A (p.Asn708Lys)
c.1947C>A (p.Asn649Lys)
c.1935C>A (p.Asn645Lys)
c.1911C>A (p.Asn637Lys)
c.1257C>A (p.Asn419Lys)
c.1212C>A (p.Asn404Lys)
c.1197C>A (p.Asn399Lys)
c.1011C>A (p.Asn337Lys)
n.656-2678G>T
n.1125C>A
5g.143282022T>ACA361868690NR3C1c.2201A>T (p.Asn734Ile)
c.2108A>T (p.Asn703Ile)
c.2204A>T (p.Asn735Ile)
c.2181+546A>T (n.2181+546A>T)
c.2123A>T (p.Asn708Ile)
c.1946A>T (p.Asn649Ile)
c.1934A>T (p.Asn645Ile)
c.1910A>T (p.Asn637Ile)
c.1256A>T (p.Asn419Ile)
c.1211A>T (p.Asn404Ile)
c.1196A>T (p.Asn399Ile)
c.1010A>T (p.Asn337Ile)
n.656-2677T>A
n.1124A>T
5g.143282022T>CCA361868691NR3C1c.2201A>G (p.Asn734Ser)
c.2108A>G (p.Asn703Ser)
c.2204A>G (p.Asn735Ser)
c.2181+546A>G (n.2181+546A>G)
c.2123A>G (p.Asn708Ser)
c.1946A>G (p.Asn649Ser)
c.1934A>G (p.Asn645Ser)
c.1910A>G (p.Asn637Ser)
c.1256A>G (p.Asn419Ser)
c.1211A>G (p.Asn404Ser)
c.1196A>G (p.Asn399Ser)
c.1010A>G (p.Asn337Ser)
n.656-2677T>C
n.1124A>G
dbSNP
5g.143282022T>GCA361868692NR3C1c.2201A>C (p.Asn734Thr)
c.2108A>C (p.Asn703Thr)
c.2204A>C (p.Asn735Thr)
c.2181+546A>C (n.2181+546A>C)
c.2123A>C (p.Asn708Thr)
c.1946A>C (p.Asn649Thr)
c.1934A>C (p.Asn645Thr)
c.1910A>C (p.Asn637Thr)
c.1256A>C (p.Asn419Thr)
c.1211A>C (p.Asn404Thr)
c.1196A>C (p.Asn399Thr)
c.1010A>C (p.Asn337Thr)
n.656-2677T>G
n.1124A>C
dbSNP
5g.143282023T>ACA361868693NR3C1c.2200A>T (p.Asn734Tyr)
c.2107A>T (p.Asn703Tyr)
c.2203A>T (p.Asn735Tyr)
c.2181+545A>T (n.2181+545A>T)
c.2122A>T (p.Asn708Tyr)
c.1945A>T (p.Asn649Tyr)
c.1933A>T (p.Asn645Tyr)
c.1909A>T (p.Asn637Tyr)
c.1255A>T (p.Asn419Tyr)
c.1210A>T (p.Asn404Tyr)
c.1195A>T (p.Asn399Tyr)
c.1009A>T (p.Asn337Tyr)
n.656-2676T>A
n.1123A>T
5g.143282023T>CCA361868694NR3C1c.2200A>G (p.Asn734Asp)
c.2107A>G (p.Asn703Asp)
c.2203A>G (p.Asn735Asp)
c.2181+545A>G (n.2181+545A>G)
c.2122A>G (p.Asn708Asp)
c.1945A>G (p.Asn649Asp)
c.1933A>G (p.Asn645Asp)
c.1909A>G (p.Asn637Asp)
c.1255A>G (p.Asn419Asp)
c.1210A>G (p.Asn404Asp)
c.1195A>G (p.Asn399Asp)
c.1009A>G (p.Asn337Asp)
n.656-2676T>C
n.1123A>G
5g.143282023T>GCA361868695NR3C1c.2200A>C (p.Asn734His)
c.2107A>C (p.Asn703His)
c.2203A>C (p.Asn735His)
c.2181+545A>C (n.2181+545A>C)
c.2122A>C (p.Asn708His)
c.1945A>C (p.Asn649His)
c.1933A>C (p.Asn645His)
c.1909A>C (p.Asn637His)
c.1255A>C (p.Asn419His)
c.1210A>C (p.Asn404His)
c.1195A>C (p.Asn399His)
c.1009A>C (p.Asn337His)
n.656-2676T>G
n.1123A>C
5g.143282024A>CCA446961891NR3C1c.2199T>G (p.Leu733=)
c.2106T>G (p.Leu702=)
c.2202T>G (p.Leu734=)
c.2181+544T>G (n.2181+544T>G)
c.2121T>G (p.Leu707=)
c.1944T>G (p.Leu648=)
c.1932T>G (p.Leu644=)
c.1908T>G (p.Leu636=)
c.1254T>G (p.Leu418=)
c.1209T>G (p.Leu403=)
c.1194T>G (p.Leu398=)
c.1008T>G (p.Leu336=)
n.656-2675A>C
n.1122T>G
5g.143282024A>GCA446961892NR3C1c.2199T>C (p.Leu733=)
c.2106T>C (p.Leu702=)
c.2202T>C (p.Leu734=)
c.2181+544T>C (n.2181+544T>C)
c.2121T>C (p.Leu707=)
c.1944T>C (p.Leu648=)
c.1932T>C (p.Leu644=)
c.1908T>C (p.Leu636=)
c.1254T>C (p.Leu418=)
c.1209T>C (p.Leu403=)
c.1194T>C (p.Leu398=)
c.1008T>C (p.Leu336=)
n.656-2675A>G
n.1122T>C
5g.143282024A>TCA446961893NR3C1c.2199T>A (p.Leu733=)
c.2106T>A (p.Leu702=)
c.2202T>A (p.Leu734=)
c.2181+544T>A (n.2181+544T>A)
c.2121T>A (p.Leu707=)
c.1944T>A (p.Leu648=)
c.1932T>A (p.Leu644=)
c.1908T>A (p.Leu636=)
c.1254T>A (p.Leu418=)
c.1209T>A (p.Leu403=)
c.1194T>A (p.Leu398=)
c.1008T>A (p.Leu336=)
n.656-2675A>T
n.1122T>A
5g.143282025A>CCA129252230NR3C1c.2198T>G (p.Leu733Arg)
c.2105T>G (p.Leu702Arg)
c.2201T>G (p.Leu734Arg)
c.2181+543T>G (n.2181+543T>G)
c.2120T>G (p.Leu707Arg)
c.1943T>G (p.Leu648Arg)
c.1931T>G (p.Leu644Arg)
c.1907T>G (p.Leu636Arg)
c.1253T>G (p.Leu418Arg)
c.1208T>G (p.Leu403Arg)
c.1193T>G (p.Leu398Arg)
c.1007T>G (p.Leu336Arg)
n.656-2674A>C
n.1121T>G
dbSNP
5g.143282025A>GCA361868696NR3C1c.2198T>C (p.Leu733Pro)
c.2105T>C (p.Leu702Pro)
c.2201T>C (p.Leu734Pro)
c.2181+543T>C (n.2181+543T>C)
c.2120T>C (p.Leu707Pro)
c.1943T>C (p.Leu648Pro)
c.1931T>C (p.Leu644Pro)
c.1907T>C (p.Leu636Pro)
c.1253T>C (p.Leu418Pro)
c.1208T>C (p.Leu403Pro)
c.1193T>C (p.Leu398Pro)
c.1007T>C (p.Leu336Pro)
n.656-2674A>G
n.1121T>C
5g.143282025A>TCA361868697NR3C1c.2198T>A (p.Leu733His)
c.2105T>A (p.Leu702His)
c.2201T>A (p.Leu734His)
c.2181+543T>A (n.2181+543T>A)
c.2120T>A (p.Leu707His)
c.1943T>A (p.Leu648His)
c.1931T>A (p.Leu644His)
c.1907T>A (p.Leu636His)
c.1253T>A (p.Leu418His)
c.1208T>A (p.Leu403His)
c.1193T>A (p.Leu398His)
c.1007T>A (p.Leu336His)
n.656-2674A>T
n.1121T>A
5g.143282026G>ACA361868698NR3C1c.2197C>T (p.Leu733Phe)
c.2104C>T (p.Leu702Phe)
c.2200C>T (p.Leu734Phe)
c.2181+542C>T (n.2181+542C>T)
c.2119C>T (p.Leu707Phe)
c.1942C>T (p.Leu648Phe)
c.1930C>T (p.Leu644Phe)
c.1906C>T (p.Leu636Phe)
c.1252C>T (p.Leu418Phe)
c.1207C>T (p.Leu403Phe)
c.1192C>T (p.Leu398Phe)
c.1006C>T (p.Leu336Phe)
n.656-2673G>A
n.1120C>T
COSMIC
5g.143282026G>CCA361868699NR3C1c.2197C>G (p.Leu733Val)
c.2104C>G (p.Leu702Val)
c.2200C>G (p.Leu734Val)
c.2181+542C>G (n.2181+542C>G)
c.2119C>G (p.Leu707Val)
c.1942C>G (p.Leu648Val)
c.1930C>G (p.Leu644Val)
c.1906C>G (p.Leu636Val)
c.1252C>G (p.Leu418Val)
c.1207C>G (p.Leu403Val)
c.1192C>G (p.Leu398Val)
c.1006C>G (p.Leu336Val)
n.656-2673G>C
n.1120C>G
5g.143282026G>TCA361868700NR3C1c.2197C>A (p.Leu733Ile)
c.2104C>A (p.Leu702Ile)
c.2200C>A (p.Leu734Ile)
c.2181+542C>A (n.2181+542C>A)
c.2119C>A (p.Leu707Ile)
c.1942C>A (p.Leu648Ile)
c.1930C>A (p.Leu644Ile)
c.1906C>A (p.Leu636Ile)
c.1252C>A (p.Leu418Ile)
c.1207C>A (p.Leu403Ile)
c.1192C>A (p.Leu398Ile)
c.1006C>A (p.Leu336Ile)
n.656-2673G>T
n.1120C>A

Number of alleles fetched