Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.143281856_143281879delCA2497120009NR3C1c.*11_*34del (n.*11_*34del)
c.2181+690_2181+713del (n.2181+690_2181+713del)
n.656-2843_656-2820del
n.1268_1291del
dbSNP
5g.143281860_143281863dupCA563495753NR3C1c.*30_*33dup (n.*30_*33dup)
c.2181+709_2181+712dup (n.2181+709_2181+712dup)
n.656-2839_656-2836dup
n.1287_1290dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.143281860_143281863delCA3486675NR3C1c.*30_*33del (n.*30_*33del)
c.2181+709_2181+712del (n.2181+709_2181+712del)
n.656-2839_656-2836del
n.1287_1290del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.143281859T>ACA2768716066NR3C1c.*30A>T (n.*30A>T)
c.2181+709A>T (n.2181+709A>T)
n.656-2840T>A
n.1287A>T
5g.143281861T>CCA563495754NR3C1c.*28A>G (n.*28A>G)
c.2181+707A>G (n.2181+707A>G)
n.656-2838T>C
n.1285A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.143281862_143281881dupCA1082404845NR3C1c.*9_*28dup (n.*9_*28dup)
c.2181+688_2181+707dup (n.2181+688_2181+707dup)
n.656-2837_656-2818dup
n.1266_1285dup
dbSNP gnomAD v3 gnomAD v4
5g.143281861_143281883dupCA2675765812NR3C1c.*6_*28dup (n.*6_*28dup)
c.2181+685_2181+707dup (n.2181+685_2181+707dup)
n.656-2838_656-2816dup
n.1263_1285dup
gnomAD v4
5g.143281863T>CCA2578437327NR3C1c.*26A>G (n.*26A>G)
c.2181+705A>G (n.2181+705A>G)
n.656-2836T>C
n.1283A>G
5g.143281865A>GCA2710157310NR3C1c.*24T>C (n.*24T>C)
c.2181+703T>C (n.2181+703T>C)
n.656-2834A>G
n.1281T>C
dbSNP
5g.143281869A>GCA2675765813NR3C1c.*20T>C (n.*20T>C)
c.2181+699T>C (n.2181+699T>C)
n.656-2830A>G
n.1277T>C
gnomAD v4
5g.143281870A>TCA2675765814NR3C1c.*19T>A (n.*19T>A)
c.2181+698T>A (n.2181+698T>A)
n.656-2829A>T
n.1276T>A
gnomAD v4
5g.143281871C>ACA563495755NR3C1c.*18G>T (n.*18G>T)
c.2181+697G>T (n.2181+697G>T)
n.656-2828C>A
n.1275G>T
dbSNP gnomAD v2 gnomAD v4
5g.143281871C>TCA129252224NR3C1c.*18G>A (n.*18G>A)
c.2181+697G>A (n.2181+697G>A)
n.656-2828C>T
n.1275G>A
dbSNP gnomAD v4
5g.143281872C>ACA3486676NR3C1c.*17G>T (n.*17G>T)
c.2181+696G>T (n.2181+696G>T)
n.656-2827C>A
n.1274G>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.143281872C>TCA804988152NR3C1c.*17G>A (n.*17G>A)
c.2181+696G>A (n.2181+696G>A)
n.656-2827C>T
n.1274G>A
dbSNP
5g.143281873A>TCA1082404846NR3C1c.*16T>A (n.*16T>A)
c.2181+695T>A (n.2181+695T>A)
n.656-2826A>T
n.1273T>A
dbSNP gnomAD v3 gnomAD v4
5g.143281874T>CCA129252225NR3C1c.*15A>G (n.*15A>G)
c.2181+694A>G (n.2181+694A>G)
n.656-2825T>C
n.1272A>G
dbSNP gnomAD v3 gnomAD v4
5g.143281876C>ACA563495756NR3C1c.*13G>T (n.*13G>T)
c.2181+692G>T (n.2181+692G>T)
n.656-2823C>A
n.1270G>T
dbSNP gnomAD v2 gnomAD v4
5g.143281878T>CCA2675765815NR3C1c.*11A>G (n.*11A>G)
c.2181+690A>G (n.2181+690A>G)
n.656-2821T>C
n.1268A>G
gnomAD v4
5g.143281880T>CCA2578437328NR3C1c.*9A>G (n.*9A>G)
c.2181+688A>G (n.2181+688A>G)
n.656-2819T>C
n.1266A>G
5g.143281880T>GCA1082404850NR3C1c.*9A>C (n.*9A>C)
c.2181+688A>C (n.2181+688A>C)
n.656-2819T>G
n.1266A>C
dbSNP gnomAD v3 gnomAD v4
5g.143281886C>TCA2675765816NR3C1c.*3G>A (n.*3G>A)
c.2181+682G>A (n.2181+682G>A)
n.656-2813C>T
n.1260G>A
gnomAD v4
5g.143281888G>ACA2578437329NR3C1c.*1C>T (n.*1C>T)
c.2181+680C>T (n.2181+680C>T)
n.656-2811G>A
n.1258C>T
5g.143281889T>ACA361868378NR3C1c.2334A>T (p.Ter778Cys)
c.2241A>T (p.Ter747Cys)
c.2337A>T (p.Ter779Cys)
c.2181+679A>T (n.2181+679A>T)
c.2256A>T (p.Ter752Cys)
c.2079A>T (p.Ter693Cys)
c.2067A>T (p.Ter689Cys)
c.2043A>T (p.Ter681Cys)
c.1389A>T (p.Ter463Cys)
c.1344A>T (p.Ter448Cys)
c.1329A>T (p.Ter443Cys)
c.1143A>T (p.Ter381Cys)
n.656-2810T>A
n.1257A>T
5g.143281889T>CCA361868379NR3C1c.2334A>G (p.Ter778Trp)
c.2241A>G (p.Ter747Trp)
c.2337A>G (p.Ter779Trp)
c.2181+679A>G (n.2181+679A>G)
c.2256A>G (p.Ter752Trp)
c.2079A>G (p.Ter693Trp)
c.2067A>G (p.Ter689Trp)
c.2043A>G (p.Ter681Trp)
c.1389A>G (p.Ter463Trp)
c.1344A>G (p.Ter448Trp)
c.1329A>G (p.Ter443Trp)
c.1143A>G (p.Ter381Trp)
n.656-2810T>C
n.1257A>G
5g.143281889T>GCA361868380NR3C1c.2334A>C (p.Ter778Cys)
c.2241A>C (p.Ter747Cys)
c.2337A>C (p.Ter779Cys)
c.2181+679A>C (n.2181+679A>C)
c.2256A>C (p.Ter752Cys)
c.2079A>C (p.Ter693Cys)
c.2067A>C (p.Ter689Cys)
c.2043A>C (p.Ter681Cys)
c.1389A>C (p.Ter463Cys)
c.1344A>C (p.Ter448Cys)
c.1329A>C (p.Ter443Cys)
c.1143A>C (p.Ter381Cys)
n.656-2810T>G
n.1257A>C
5g.143281890C>ACA361868381NR3C1c.2333G>T (p.Ter778Leu)
c.2240G>T (p.Ter747Leu)
c.2336G>T (p.Ter779Leu)
c.2181+678G>T (n.2181+678G>T)
c.2255G>T (p.Ter752Leu)
c.2078G>T (p.Ter693Leu)
c.2066G>T (p.Ter689Leu)
c.2042G>T (p.Ter681Leu)
c.1388G>T (p.Ter463Leu)
c.1343G>T (p.Ter448Leu)
c.1328G>T (p.Ter443Leu)
c.1142G>T (p.Ter381Leu)
n.656-2809C>A
n.1256G>T
gnomAD v4
5g.143281890C>GCA361868382NR3C1c.2333G>C (p.Ter778Ser)
c.2240G>C (p.Ter747Ser)
c.2336G>C (p.Ter779Ser)
c.2181+678G>C (n.2181+678G>C)
c.2255G>C (p.Ter752Ser)
c.2078G>C (p.Ter693Ser)
c.2066G>C (p.Ter689Ser)
c.2042G>C (p.Ter681Ser)
c.1388G>C (p.Ter463Ser)
c.1343G>C (p.Ter448Ser)
c.1328G>C (p.Ter443Ser)
c.1142G>C (p.Ter381Ser)
n.656-2809C>G
n.1256G>C
5g.143281890C>TCA446961826NR3C1c.2333G>A (p.Ter778=)
c.2240G>A (p.Ter747=)
c.2336G>A (p.Ter779=)
c.2181+678G>A (n.2181+678G>A)
c.2255G>A (p.Ter752=)
c.2078G>A (p.Ter693=)
c.2066G>A (p.Ter689=)
c.2042G>A (p.Ter681=)
c.1388G>A (p.Ter463=)
c.1343G>A (p.Ter448=)
c.1328G>A (p.Ter443=)
c.1142G>A (p.Ter381=)
n.656-2809C>T
n.1256G>A
5g.143281891A>CCA361868383NR3C1c.2332T>G (p.Ter778Gly)
c.2239T>G (p.Ter747Gly)
c.2335T>G (p.Ter779Gly)
c.2181+677T>G (n.2181+677T>G)
c.2254T>G (p.Ter752Gly)
c.2077T>G (p.Ter693Gly)
c.2065T>G (p.Ter689Gly)
c.2041T>G (p.Ter681Gly)
c.1387T>G (p.Ter463Gly)
c.1342T>G (p.Ter448Gly)
c.1327T>G (p.Ter443Gly)
c.1141T>G (p.Ter381Gly)
n.656-2808A>C
n.1255T>G
gnomAD v4
5g.143281891A>GCA361868384NR3C1c.2332T>C (p.Ter778Arg)
c.2239T>C (p.Ter747Arg)
c.2335T>C (p.Ter779Arg)
c.2181+677T>C (n.2181+677T>C)
c.2254T>C (p.Ter752Arg)
c.2077T>C (p.Ter693Arg)
c.2065T>C (p.Ter689Arg)
c.2041T>C (p.Ter681Arg)
c.1387T>C (p.Ter463Arg)
c.1342T>C (p.Ter448Arg)
c.1327T>C (p.Ter443Arg)
c.1141T>C (p.Ter381Arg)
n.656-2808A>G
n.1255T>C
gnomAD v4
5g.143281891A>TCA361868385NR3C1c.2332T>A (p.Ter778Arg)
c.2239T>A (p.Ter747Arg)
c.2335T>A (p.Ter779Arg)
c.2181+677T>A (n.2181+677T>A)
c.2254T>A (p.Ter752Arg)
c.2077T>A (p.Ter693Arg)
c.2065T>A (p.Ter689Arg)
c.2041T>A (p.Ter681Arg)
c.1387T>A (p.Ter463Arg)
c.1342T>A (p.Ter448Arg)
c.1327T>A (p.Ter443Arg)
c.1141T>A (p.Ter381Arg)
n.656-2808A>T
n.1255T>A
5g.143281892C>ACA361868386NR3C1c.2331G>T (p.Lys777Asn)
c.2238G>T (p.Lys746Asn)
c.2334G>T (p.Lys778Asn)
c.2181+676G>T (n.2181+676G>T)
c.2253G>T (p.Lys751Asn)
c.2076G>T (p.Lys692Asn)
c.2064G>T (p.Lys688Asn)
c.2040G>T (p.Lys680Asn)
c.1386G>T (p.Lys462Asn)
c.1341G>T (p.Lys447Asn)
c.1326G>T (p.Lys442Asn)
c.1140G>T (p.Lys380Asn)
n.656-2807C>A
n.1254G>T
gnomAD v4
5g.143281892C>GCA361868387NR3C1c.2331G>C (p.Lys777Asn)
c.2238G>C (p.Lys746Asn)
c.2334G>C (p.Lys778Asn)
c.2181+676G>C (n.2181+676G>C)
c.2253G>C (p.Lys751Asn)
c.2076G>C (p.Lys692Asn)
c.2064G>C (p.Lys688Asn)
c.2040G>C (p.Lys680Asn)
c.1386G>C (p.Lys462Asn)
c.1341G>C (p.Lys447Asn)
c.1326G>C (p.Lys442Asn)
c.1140G>C (p.Lys380Asn)
n.656-2807C>G
n.1254G>C
5g.143281892C>TCA446961827NR3C1c.2331G>A (p.Lys777=)
c.2238G>A (p.Lys746=)
c.2334G>A (p.Lys778=)
c.2181+676G>A (n.2181+676G>A)
c.2253G>A (p.Lys751=)
c.2076G>A (p.Lys692=)
c.2064G>A (p.Lys688=)
c.2040G>A (p.Lys680=)
c.1386G>A (p.Lys462=)
c.1341G>A (p.Lys447=)
c.1326G>A (p.Lys442=)
c.1140G>A (p.Lys380=)
n.656-2807C>T
n.1254G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.143281893T>ACA361868388NR3C1c.2330A>T (p.Lys777Met)
c.2237A>T (p.Lys746Met)
c.2333A>T (p.Lys778Met)
c.2181+675A>T (n.2181+675A>T)
c.2252A>T (p.Lys751Met)
c.2075A>T (p.Lys692Met)
c.2063A>T (p.Lys688Met)
c.2039A>T (p.Lys680Met)
c.1385A>T (p.Lys462Met)
c.1340A>T (p.Lys447Met)
c.1325A>T (p.Lys442Met)
c.1139A>T (p.Lys380Met)
n.656-2806T>A
n.1253A>T
5g.143281893T>CCA361868390NR3C1c.2330A>G (p.Lys777Arg)
c.2237A>G (p.Lys746Arg)
c.2333A>G (p.Lys778Arg)
c.2181+675A>G (n.2181+675A>G)
c.2252A>G (p.Lys751Arg)
c.2075A>G (p.Lys692Arg)
c.2063A>G (p.Lys688Arg)
c.2039A>G (p.Lys680Arg)
c.1385A>G (p.Lys462Arg)
c.1340A>G (p.Lys447Arg)
c.1325A>G (p.Lys442Arg)
c.1139A>G (p.Lys380Arg)
n.656-2806T>C
n.1253A>G
5g.143281893T>GCA361868389NR3C1c.2330A>C (p.Lys777Thr)
c.2237A>C (p.Lys746Thr)
c.2333A>C (p.Lys778Thr)
c.2181+675A>C (n.2181+675A>C)
c.2252A>C (p.Lys751Thr)
c.2075A>C (p.Lys692Thr)
c.2063A>C (p.Lys688Thr)
c.2039A>C (p.Lys680Thr)
c.1385A>C (p.Lys462Thr)
c.1340A>C (p.Lys447Thr)
c.1325A>C (p.Lys442Thr)
c.1139A>C (p.Lys380Thr)
n.656-2806T>G
n.1253A>C
5g.143281895_143281896delCA2675765817NR3C1c.2329_2330del (p.Lys777ValfsTer21)
c.2236_2237del (p.Lys746ValfsTer21)
c.2332_2333del (p.Lys778ValfsTer21)
c.2181+674_2181+675del (n.2181+674_2181+675del)
c.2251_2252del (p.Lys751ValfsTer21)
c.2074_2075del (p.Lys692ValfsTer21)
c.2062_2063del (p.Lys688ValfsTer21)
c.2038_2039del (p.Lys680ValfsTer21)
c.1384_1385del (p.Lys462ValfsTer21)
c.1339_1340del (p.Lys447ValfsTer21)
c.1324_1325del (p.Lys442ValfsTer21)
c.1138_1139del (p.Lys380ValfsTer21)
n.656-2804_656-2803del
n.1252_1253del
gnomAD v4
5g.143281894T>ACA361868391NR3C1c.2329A>T (p.Lys777Ter)
c.2236A>T (p.Lys746Ter)
c.2332A>T (p.Lys778Ter)
c.2181+674A>T (n.2181+674A>T)
c.2251A>T (p.Lys751Ter)
c.2074A>T (p.Lys692Ter)
c.2062A>T (p.Lys688Ter)
c.2038A>T (p.Lys680Ter)
c.1384A>T (p.Lys462Ter)
c.1339A>T (p.Lys447Ter)
c.1324A>T (p.Lys442Ter)
c.1138A>T (p.Lys380Ter)
n.656-2805T>A
n.1252A>T
5g.143281894T>CCA361868392NR3C1c.2329A>G (p.Lys777Glu)
c.2236A>G (p.Lys746Glu)
c.2332A>G (p.Lys778Glu)
c.2181+674A>G (n.2181+674A>G)
c.2251A>G (p.Lys751Glu)
c.2074A>G (p.Lys692Glu)
c.2062A>G (p.Lys688Glu)
c.2038A>G (p.Lys680Glu)
c.1384A>G (p.Lys462Glu)
c.1339A>G (p.Lys447Glu)
c.1324A>G (p.Lys442Glu)
c.1138A>G (p.Lys380Glu)
n.656-2805T>C
n.1252A>G
5g.143281894T>GCA361868393NR3C1c.2329A>C (p.Lys777Gln)
c.2236A>C (p.Lys746Gln)
c.2332A>C (p.Lys778Gln)
c.2181+674A>C (n.2181+674A>C)
c.2251A>C (p.Lys751Gln)
c.2074A>C (p.Lys692Gln)
c.2062A>C (p.Lys688Gln)
c.2038A>C (p.Lys680Gln)
c.1384A>C (p.Lys462Gln)
c.1339A>C (p.Lys447Gln)
c.1324A>C (p.Lys442Gln)
c.1138A>C (p.Lys380Gln)
n.656-2805T>G
n.1252A>C
5g.143281897_143281912dupCA804988170NR3C1c.2314_2329dup (p.Lys777ThrfsTer27)
c.2221_2236dup (p.Lys746ThrfsTer27)
c.2317_2332dup (p.Lys778ThrfsTer27)
c.2181+659_2181+674dup (n.2181+659_2181+674dup)
c.2236_2251dup (p.Lys751ThrfsTer27)
c.2059_2074dup (p.Lys692ThrfsTer27)
c.2047_2062dup (p.Lys688ThrfsTer27)
c.2023_2038dup (p.Lys680ThrfsTer27)
c.1369_1384dup (p.Lys462ThrfsTer27)
c.1324_1339dup (p.Lys447ThrfsTer27)
c.1309_1324dup (p.Lys442ThrfsTer27)
c.1123_1138dup (p.Lys380ThrfsTer27)
n.656-2802_656-2787dup
n.1237_1252dup
dbSNP gnomAD v3 gnomAD v4
5g.143281895T>ACA361868394NR3C1c.2328A>T (p.Gln776His)
c.2235A>T (p.Gln745His)
c.2331A>T (p.Gln777His)
c.2181+673A>T (n.2181+673A>T)
c.2250A>T (p.Gln750His)
c.2073A>T (p.Gln691His)
c.2061A>T (p.Gln687His)
c.2037A>T (p.Gln679His)
c.1383A>T (p.Gln461His)
c.1338A>T (p.Gln446His)
c.1323A>T (p.Gln441His)
c.1137A>T (p.Gln379His)
n.656-2804T>A
n.1251A>T
5g.143281895T>CCA446961828NR3C1c.2328A>G (p.Gln776=)
c.2235A>G (p.Gln745=)
c.2331A>G (p.Gln777=)
c.2181+673A>G (n.2181+673A>G)
c.2250A>G (p.Gln750=)
c.2073A>G (p.Gln691=)
c.2061A>G (p.Gln687=)
c.2037A>G (p.Gln679=)
c.1383A>G (p.Gln461=)
c.1338A>G (p.Gln446=)
c.1323A>G (p.Gln441=)
c.1137A>G (p.Gln379=)
n.656-2804T>C
n.1251A>G
5g.143281895T>GCA361868395NR3C1c.2328A>C (p.Gln776His)
c.2235A>C (p.Gln745His)
c.2331A>C (p.Gln777His)
c.2181+673A>C (n.2181+673A>C)
c.2250A>C (p.Gln750His)
c.2073A>C (p.Gln691His)
c.2061A>C (p.Gln687His)
c.2037A>C (p.Gln679His)
c.1383A>C (p.Gln461His)
c.1338A>C (p.Gln446His)
c.1323A>C (p.Gln441His)
c.1137A>C (p.Gln379His)
n.656-2804T>G
n.1251A>C
5g.143281896T>ACA361868396NR3C1c.2327A>T (p.Gln776Leu)
c.2234A>T (p.Gln745Leu)
c.2330A>T (p.Gln777Leu)
c.2181+672A>T (n.2181+672A>T)
c.2249A>T (p.Gln750Leu)
c.2072A>T (p.Gln691Leu)
c.2060A>T (p.Gln687Leu)
c.2036A>T (p.Gln679Leu)
c.1382A>T (p.Gln461Leu)
c.1337A>T (p.Gln446Leu)
c.1322A>T (p.Gln441Leu)
c.1136A>T (p.Gln379Leu)
n.656-2803T>A
n.1250A>T
5g.143281896T>CCA361868397NR3C1c.2327A>G (p.Gln776Arg)
c.2234A>G (p.Gln745Arg)
c.2330A>G (p.Gln777Arg)
c.2181+672A>G (n.2181+672A>G)
c.2249A>G (p.Gln750Arg)
c.2072A>G (p.Gln691Arg)
c.2060A>G (p.Gln687Arg)
c.2036A>G (p.Gln679Arg)
c.1382A>G (p.Gln461Arg)
c.1337A>G (p.Gln446Arg)
c.1322A>G (p.Gln441Arg)
c.1136A>G (p.Gln379Arg)
n.656-2803T>C
n.1250A>G
gnomAD v4
5g.143281896T>GCA361868398NR3C1c.2327A>C (p.Gln776Pro)
c.2234A>C (p.Gln745Pro)
c.2330A>C (p.Gln777Pro)
c.2181+672A>C (n.2181+672A>C)
c.2249A>C (p.Gln750Pro)
c.2072A>C (p.Gln691Pro)
c.2060A>C (p.Gln687Pro)
c.2036A>C (p.Gln679Pro)
c.1382A>C (p.Gln461Pro)
c.1337A>C (p.Gln446Pro)
c.1322A>C (p.Gln441Pro)
c.1136A>C (p.Gln379Pro)
n.656-2803T>G
n.1250A>C
5g.143281897G>ACA361868399NR3C1c.2326C>T (p.Gln776Ter)
c.2233C>T (p.Gln745Ter)
c.2329C>T (p.Gln777Ter)
c.2181+671C>T (n.2181+671C>T)
c.2248C>T (p.Gln750Ter)
c.2071C>T (p.Gln691Ter)
c.2059C>T (p.Gln687Ter)
c.2035C>T (p.Gln679Ter)
c.1381C>T (p.Gln461Ter)
c.1336C>T (p.Gln446Ter)
c.1321C>T (p.Gln441Ter)
c.1135C>T (p.Gln379Ter)
n.656-2802G>A
n.1249C>T
5g.143281897G>CCA361868400NR3C1c.2326C>G (p.Gln776Glu)
c.2233C>G (p.Gln745Glu)
c.2329C>G (p.Gln777Glu)
c.2181+671C>G (n.2181+671C>G)
c.2248C>G (p.Gln750Glu)
c.2071C>G (p.Gln691Glu)
c.2059C>G (p.Gln687Glu)
c.2035C>G (p.Gln679Glu)
c.1381C>G (p.Gln461Glu)
c.1336C>G (p.Gln446Glu)
c.1321C>G (p.Gln441Glu)
c.1135C>G (p.Gln379Glu)
n.656-2802G>C
n.1249C>G
5g.143281897G>TCA361868401NR3C1c.2326C>A (p.Gln776Lys)
c.2233C>A (p.Gln745Lys)
c.2329C>A (p.Gln777Lys)
c.2181+671C>A (n.2181+671C>A)
c.2248C>A (p.Gln750Lys)
c.2071C>A (p.Gln691Lys)
c.2059C>A (p.Gln687Lys)
c.2035C>A (p.Gln679Lys)
c.1381C>A (p.Gln461Lys)
c.1336C>A (p.Gln446Lys)
c.1321C>A (p.Gln441Lys)
c.1135C>A (p.Gln379Lys)
n.656-2802G>T
n.1249C>A
5g.143281898A>CCA361868402NR3C1c.2325T>G (p.His775Gln)
c.2232T>G (p.His744Gln)
c.2328T>G (p.His776Gln)
c.2181+670T>G (n.2181+670T>G)
c.2247T>G (p.His749Gln)
c.2070T>G (p.His690Gln)
c.2058T>G (p.His686Gln)
c.2034T>G (p.His678Gln)
c.1380T>G (p.His460Gln)
c.1335T>G (p.His445Gln)
c.1320T>G (p.His440Gln)
c.1134T>G (p.His378Gln)
n.656-2801A>C
n.1248T>G
5g.143281898A>GCA446961829NR3C1c.2325T>C (p.His775=)
c.2232T>C (p.His744=)
c.2328T>C (p.His776=)
c.2181+670T>C (n.2181+670T>C)
c.2247T>C (p.His749=)
c.2070T>C (p.His690=)
c.2058T>C (p.His686=)
c.2034T>C (p.His678=)
c.1380T>C (p.His460=)
c.1335T>C (p.His445=)
c.1320T>C (p.His440=)
c.1134T>C (p.His378=)
n.656-2801A>G
n.1248T>C
gnomAD v4
5g.143281898A>TCA361868403NR3C1c.2325T>A (p.His775Gln)
c.2232T>A (p.His744Gln)
c.2328T>A (p.His776Gln)
c.2181+670T>A (n.2181+670T>A)
c.2247T>A (p.His749Gln)
c.2070T>A (p.His690Gln)
c.2058T>A (p.His686Gln)
c.2034T>A (p.His678Gln)
c.1380T>A (p.His460Gln)
c.1335T>A (p.His445Gln)
c.1320T>A (p.His440Gln)
c.1134T>A (p.His378Gln)
n.656-2801A>T
n.1248T>A
5g.143281899T>ACA361868404NR3C1c.2324A>T (p.His775Leu)
c.2231A>T (p.His744Leu)
c.2327A>T (p.His776Leu)
c.2181+669A>T (n.2181+669A>T)
c.2246A>T (p.His749Leu)
c.2069A>T (p.His690Leu)
c.2057A>T (p.His686Leu)
c.2033A>T (p.His678Leu)
c.1379A>T (p.His460Leu)
c.1334A>T (p.His445Leu)
c.1319A>T (p.His440Leu)
c.1133A>T (p.His378Leu)
n.656-2800T>A
n.1247A>T
5g.143281899T>CCA361868406NR3C1c.2324A>G (p.His775Arg)
c.2231A>G (p.His744Arg)
c.2327A>G (p.His776Arg)
c.2181+669A>G (n.2181+669A>G)
c.2246A>G (p.His749Arg)
c.2069A>G (p.His690Arg)
c.2057A>G (p.His686Arg)
c.2033A>G (p.His678Arg)
c.1379A>G (p.His460Arg)
c.1334A>G (p.His445Arg)
c.1319A>G (p.His440Arg)
c.1133A>G (p.His378Arg)
n.656-2800T>C
n.1247A>G
5g.143281899T>GCA361868405NR3C1c.2324A>C (p.His775Pro)
c.2231A>C (p.His744Pro)
c.2327A>C (p.His776Pro)
c.2181+669A>C (n.2181+669A>C)
c.2246A>C (p.His749Pro)
c.2069A>C (p.His690Pro)
c.2057A>C (p.His686Pro)
c.2033A>C (p.His678Pro)
c.1379A>C (p.His460Pro)
c.1334A>C (p.His445Pro)
c.1319A>C (p.His440Pro)
c.1133A>C (p.His378Pro)
n.656-2800T>G
n.1247A>C
5g.143281900G>ACA3486677NR3C1c.2323C>T (p.His775Tyr)
c.2230C>T (p.His744Tyr)
c.2326C>T (p.His776Tyr)
c.2181+668C>T (n.2181+668C>T)
c.2245C>T (p.His749Tyr)
c.2068C>T (p.His690Tyr)
c.2056C>T (p.His686Tyr)
c.2032C>T (p.His678Tyr)
c.1378C>T (p.His460Tyr)
c.1333C>T (p.His445Tyr)
c.1318C>T (p.His440Tyr)
c.1132C>T (p.His378Tyr)
n.656-2799G>A
n.1246C>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.143281900G>CCA361868407NR3C1c.2323C>G (p.His775Asp)
c.2230C>G (p.His744Asp)
c.2326C>G (p.His776Asp)
c.2181+668C>G (n.2181+668C>G)
c.2245C>G (p.His749Asp)
c.2068C>G (p.His690Asp)
c.2056C>G (p.His686Asp)
c.2032C>G (p.His678Asp)
c.1378C>G (p.His460Asp)
c.1333C>G (p.His445Asp)
c.1318C>G (p.His440Asp)
c.1132C>G (p.His378Asp)
n.656-2799G>C
n.1246C>G
5g.143281900G>TCA361868408NR3C1c.2323C>A (p.His775Asn)
c.2230C>A (p.His744Asn)
c.2326C>A (p.His776Asn)
c.2181+668C>A (n.2181+668C>A)
c.2245C>A (p.His749Asn)
c.2068C>A (p.His690Asn)
c.2056C>A (p.His686Asn)
c.2032C>A (p.His678Asn)
c.1378C>A (p.His460Asn)
c.1333C>A (p.His445Asn)
c.1318C>A (p.His440Asn)
c.1132C>A (p.His378Asn)
n.656-2799G>T
n.1246C>A
5g.143281901A>CCA361868409NR3C1c.2322T>G (p.Phe774Leu)
c.2229T>G (p.Phe743Leu)
c.2325T>G (p.Phe775Leu)
c.2181+667T>G (n.2181+667T>G)
c.2244T>G (p.Phe748Leu)
c.2067T>G (p.Phe689Leu)
c.2055T>G (p.Phe685Leu)
c.2031T>G (p.Phe677Leu)
c.1377T>G (p.Phe459Leu)
c.1332T>G (p.Phe444Leu)
c.1317T>G (p.Phe439Leu)
c.1131T>G (p.Phe377Leu)
n.656-2798A>C
n.1245T>G
5g.143281901A>GCA3486678NR3C1c.2322T>C (p.Phe774=)
c.2229T>C (p.Phe743=)
c.2325T>C (p.Phe775=)
c.2181+667T>C (n.2181+667T>C)
c.2244T>C (p.Phe748=)
c.2067T>C (p.Phe689=)
c.2055T>C (p.Phe685=)
c.2031T>C (p.Phe677=)
c.1377T>C (p.Phe459=)
c.1332T>C (p.Phe444=)
c.1317T>C (p.Phe439=)
c.1131T>C (p.Phe377=)
n.656-2798A>G
n.1245T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.143281901A>TCA361868410NR3C1c.2322T>A (p.Phe774Leu)
c.2229T>A (p.Phe743Leu)
c.2325T>A (p.Phe775Leu)
c.2181+667T>A (n.2181+667T>A)
c.2244T>A (p.Phe748Leu)
c.2067T>A (p.Phe689Leu)
c.2055T>A (p.Phe685Leu)
c.2031T>A (p.Phe677Leu)
c.1377T>A (p.Phe459Leu)
c.1332T>A (p.Phe444Leu)
c.1317T>A (p.Phe439Leu)
c.1131T>A (p.Phe377Leu)
n.656-2798A>T
n.1245T>A
5g.143281902A>CCA361868411NR3C1c.2321T>G (p.Phe774Cys)
c.2228T>G (p.Phe743Cys)
c.2324T>G (p.Phe775Cys)
c.2181+666T>G (n.2181+666T>G)
c.2243T>G (p.Phe748Cys)
c.2066T>G (p.Phe689Cys)
c.2054T>G (p.Phe685Cys)
c.2030T>G (p.Phe677Cys)
c.1376T>G (p.Phe459Cys)
c.1331T>G (p.Phe444Cys)
c.1316T>G (p.Phe439Cys)
c.1130T>G (p.Phe377Cys)
n.656-2797A>C
n.1244T>G
5g.143281902A>GCA361868412NR3C1c.2321T>C (p.Phe774Ser)
c.2228T>C (p.Phe743Ser)
c.2324T>C (p.Phe775Ser)
c.2181+666T>C (n.2181+666T>C)
c.2243T>C (p.Phe748Ser)
c.2066T>C (p.Phe689Ser)
c.2054T>C (p.Phe685Ser)
c.2030T>C (p.Phe677Ser)
c.1376T>C (p.Phe459Ser)
c.1331T>C (p.Phe444Ser)
c.1316T>C (p.Phe439Ser)
c.1130T>C (p.Phe377Ser)
n.656-2797A>G
n.1244T>C
5g.143281902A>TCA361868413NR3C1c.2321T>A (p.Phe774Tyr)
c.2228T>A (p.Phe743Tyr)
c.2324T>A (p.Phe775Tyr)
c.2181+666T>A (n.2181+666T>A)
c.2243T>A (p.Phe748Tyr)
c.2066T>A (p.Phe689Tyr)
c.2054T>A (p.Phe685Tyr)
c.2030T>A (p.Phe677Tyr)
c.1376T>A (p.Phe459Tyr)
c.1331T>A (p.Phe444Tyr)
c.1316T>A (p.Phe439Tyr)
c.1130T>A (p.Phe377Tyr)
n.656-2797A>T
n.1244T>A
5g.143281903A>CCA361868414NR3C1c.2320T>G (p.Phe774Val)
c.2227T>G (p.Phe743Val)
c.2323T>G (p.Phe775Val)
c.2181+665T>G (n.2181+665T>G)
c.2242T>G (p.Phe748Val)
c.2065T>G (p.Phe689Val)
c.2053T>G (p.Phe685Val)
c.2029T>G (p.Phe677Val)
c.1375T>G (p.Phe459Val)
c.1330T>G (p.Phe444Val)
c.1315T>G (p.Phe439Val)
c.1129T>G (p.Phe377Val)
n.656-2796A>C
n.1243T>G
5g.143281903A>GCA361868415NR3C1c.2320T>C (p.Phe774Leu)
c.2227T>C (p.Phe743Leu)
c.2323T>C (p.Phe775Leu)
c.2181+665T>C (n.2181+665T>C)
c.2242T>C (p.Phe748Leu)
c.2065T>C (p.Phe689Leu)
c.2053T>C (p.Phe685Leu)
c.2029T>C (p.Phe677Leu)
c.1375T>C (p.Phe459Leu)
c.1330T>C (p.Phe444Leu)
c.1315T>C (p.Phe439Leu)
c.1129T>C (p.Phe377Leu)
n.656-2796A>G
n.1243T>C
5g.143281903A>TCA361868416NR3C1c.2320T>A (p.Phe774Ile)
c.2227T>A (p.Phe743Ile)
c.2323T>A (p.Phe775Ile)
c.2181+665T>A (n.2181+665T>A)
c.2242T>A (p.Phe748Ile)
c.2065T>A (p.Phe689Ile)
c.2053T>A (p.Phe685Ile)
c.2029T>A (p.Phe677Ile)
c.1375T>A (p.Phe459Ile)
c.1330T>A (p.Phe444Ile)
c.1315T>A (p.Phe439Ile)
c.1129T>A (p.Phe377Ile)
n.656-2796A>T
n.1243T>A
5g.143281904_143281905delCA2573320286NR3C1c.2319_2320del (p.Phe774SerfsTer24)
c.2226_2227del (p.Phe743SerfsTer24)
c.2322_2323del (p.Phe775SerfsTer24)
c.2181+664_2181+665del (n.2181+664_2181+665del)
c.2241_2242del (p.Phe748SerfsTer24)
c.2064_2065del (p.Phe689SerfsTer24)
c.2052_2053del (p.Phe685SerfsTer24)
c.2028_2029del (p.Phe677SerfsTer24)
c.1374_1375del (p.Phe459SerfsTer24)
c.1329_1330del (p.Phe444SerfsTer24)
c.1314_1315del (p.Phe439SerfsTer24)
c.1128_1129del (p.Phe377SerfsTer24)
n.656-2795_656-2794del
n.1242_1243del
5g.143281904C>ACA446961830NR3C1c.2319G>T (p.Leu773=)
c.2226G>T (p.Leu742=)
c.2322G>T (p.Leu774=)
c.2181+664G>T (n.2181+664G>T)
c.2241G>T (p.Leu747=)
c.2064G>T (p.Leu688=)
c.2052G>T (p.Leu684=)
c.2028G>T (p.Leu676=)
c.1374G>T (p.Leu458=)
c.1329G>T (p.Leu443=)
c.1314G>T (p.Leu438=)
c.1128G>T (p.Leu376=)
n.656-2795C>A
n.1242G>T
dbSNP
5g.143281904C>GCA446961831NR3C1c.2319G>C (p.Leu773=)
c.2226G>C (p.Leu742=)
c.2322G>C (p.Leu774=)
c.2181+664G>C (n.2181+664G>C)
c.2241G>C (p.Leu747=)
c.2064G>C (p.Leu688=)
c.2052G>C (p.Leu684=)
c.2028G>C (p.Leu676=)
c.1374G>C (p.Leu458=)
c.1329G>C (p.Leu443=)
c.1314G>C (p.Leu438=)
c.1128G>C (p.Leu376=)
n.656-2795C>G
n.1242G>C
gnomAD v4
5g.143281904C>TCA446961832NR3C1c.2319G>A (p.Leu773=)
c.2226G>A (p.Leu742=)
c.2322G>A (p.Leu774=)
c.2181+664G>A (n.2181+664G>A)
c.2241G>A (p.Leu747=)
c.2064G>A (p.Leu688=)
c.2052G>A (p.Leu684=)
c.2028G>A (p.Leu676=)
c.1374G>A (p.Leu458=)
c.1329G>A (p.Leu443=)
c.1314G>A (p.Leu438=)
c.1128G>A (p.Leu376=)
n.656-2795C>T
n.1242G>A
dbSNP
5g.143281905A=CA2581520106NR3C1c.2318T= (p.Leu773=)
c.2225T= (p.Leu742=)
c.2321T= (p.Leu774=)
c.2181+663T= (n.2181+663T=)
c.2240T= (p.Leu747=)
c.2063T= (p.Leu688=)
c.2051T= (p.Leu684=)
c.2027T= (p.Leu676=)
c.1373T= (p.Leu458=)
c.1328T= (p.Leu443=)
c.1313T= (p.Leu438=)
c.1127T= (p.Leu376=)
n.656-2794A=
n.1241T=
5g.143281905A>CCA361868417NR3C1c.2318T>G (p.Leu773Arg)
c.2225T>G (p.Leu742Arg)
c.2321T>G (p.Leu774Arg)
c.2181+663T>G (n.2181+663T>G)
c.2240T>G (p.Leu747Arg)
c.2063T>G (p.Leu688Arg)
c.2051T>G (p.Leu684Arg)
c.2027T>G (p.Leu676Arg)
c.1373T>G (p.Leu458Arg)
c.1328T>G (p.Leu443Arg)
c.1313T>G (p.Leu438Arg)
c.1127T>G (p.Leu376Arg)
n.656-2794A>C
n.1241T>G
5g.143281905A>GCA126234NR3C1c.2318T>C (p.Leu773Pro)
c.2225T>C (p.Leu742Pro)
c.2321T>C (p.Leu774Pro)
c.2181+663T>C (n.2181+663T>C)
c.2240T>C (p.Leu747Pro)
c.2063T>C (p.Leu688Pro)
c.2051T>C (p.Leu684Pro)
c.2027T>C (p.Leu676Pro)
c.1373T>C (p.Leu458Pro)
c.1328T>C (p.Leu443Pro)
c.1313T>C (p.Leu438Pro)
c.1127T>C (p.Leu376Pro)
n.656-2794A>G
n.1241T>C
ClinVar dbSNP
5g.143281905A>TCA361868418NR3C1c.2318T>A (p.Leu773Gln)
c.2225T>A (p.Leu742Gln)
c.2321T>A (p.Leu774Gln)
c.2181+663T>A (n.2181+663T>A)
c.2240T>A (p.Leu747Gln)
c.2063T>A (p.Leu688Gln)
c.2051T>A (p.Leu684Gln)
c.2027T>A (p.Leu676Gln)
c.1373T>A (p.Leu458Gln)
c.1328T>A (p.Leu443Gln)
c.1313T>A (p.Leu438Gln)
c.1127T>A (p.Leu376Gln)
n.656-2794A>T
n.1241T>A
5g.143281906_143281907delCA2695205346NR3C1c.2317_2318del (p.Leu773ValfsTer25)
c.2224_2225del (p.Leu742ValfsTer25)
c.2320_2321del (p.Leu774ValfsTer25)
c.2181+662_2181+663del (n.2181+662_2181+663del)
c.2239_2240del (p.Leu747ValfsTer25)
c.2062_2063del (p.Leu688ValfsTer25)
c.2050_2051del (p.Leu684ValfsTer25)
c.2026_2027del (p.Leu676ValfsTer25)
c.1372_1373del (p.Leu458ValfsTer25)
c.1327_1328del (p.Leu443ValfsTer25)
c.1312_1313del (p.Leu438ValfsTer25)
c.1126_1127del (p.Leu376ValfsTer25)
n.656-2793_656-2792del
n.1240_1241del
5g.143281906G>ACA446961833NR3C1c.2317C>T (p.Leu773=)
c.2224C>T (p.Leu742=)
c.2320C>T (p.Leu774=)
c.2181+662C>T (n.2181+662C>T)
c.2239C>T (p.Leu747=)
c.2062C>T (p.Leu688=)
c.2050C>T (p.Leu684=)
c.2026C>T (p.Leu676=)
c.1372C>T (p.Leu458=)
c.1327C>T (p.Leu443=)
c.1312C>T (p.Leu438=)
c.1126C>T (p.Leu376=)
n.656-2793G>A
n.1240C>T
dbSNP
5g.143281906G>CCA361868419NR3C1c.2317C>G (p.Leu773Val)
c.2224C>G (p.Leu742Val)
c.2320C>G (p.Leu774Val)
c.2181+662C>G (n.2181+662C>G)
c.2239C>G (p.Leu747Val)
c.2062C>G (p.Leu688Val)
c.2050C>G (p.Leu684Val)
c.2026C>G (p.Leu676Val)
c.1372C>G (p.Leu458Val)
c.1327C>G (p.Leu443Val)
c.1312C>G (p.Leu438Val)
c.1126C>G (p.Leu376Val)
n.656-2793G>C
n.1240C>G
5g.143281906G>TCA3486679NR3C1c.2317C>A (p.Leu773Met)
c.2224C>A (p.Leu742Met)
c.2320C>A (p.Leu774Met)
c.2181+662C>A (n.2181+662C>A)
c.2239C>A (p.Leu747Met)
c.2062C>A (p.Leu688Met)
c.2050C>A (p.Leu684Met)
c.2026C>A (p.Leu676Met)
c.1372C>A (p.Leu458Met)
c.1327C>A (p.Leu443Met)
c.1312C>A (p.Leu438Met)
c.1126C>A (p.Leu376Met)
n.656-2793G>T
n.1240C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.143281907A>CCA446961834NR3C1c.2316T>G (p.Leu772=)
c.2223T>G (p.Leu741=)
c.2319T>G (p.Leu773=)
c.2181+661T>G (n.2181+661T>G)
c.2238T>G (p.Leu746=)
c.2061T>G (p.Leu687=)
c.2049T>G (p.Leu683=)
c.2025T>G (p.Leu675=)
c.1371T>G (p.Leu457=)
c.1326T>G (p.Leu442=)
c.1311T>G (p.Leu437=)
c.1125T>G (p.Leu375=)
n.656-2792A>C
n.1239T>G
5g.143281907A>GCA446961836NR3C1c.2316T>C (p.Leu772=)
c.2223T>C (p.Leu741=)
c.2319T>C (p.Leu773=)
c.2181+661T>C (n.2181+661T>C)
c.2238T>C (p.Leu746=)
c.2061T>C (p.Leu687=)
c.2049T>C (p.Leu683=)
c.2025T>C (p.Leu675=)
c.1371T>C (p.Leu457=)
c.1326T>C (p.Leu442=)
c.1311T>C (p.Leu437=)
c.1125T>C (p.Leu375=)
n.656-2792A>G
n.1239T>C
5g.143281907A>TCA446961835NR3C1c.2316T>A (p.Leu772=)
c.2223T>A (p.Leu741=)
c.2319T>A (p.Leu773=)
c.2181+661T>A (n.2181+661T>A)
c.2238T>A (p.Leu746=)
c.2061T>A (p.Leu687=)
c.2049T>A (p.Leu683=)
c.2025T>A (p.Leu675=)
c.1371T>A (p.Leu457=)
c.1326T>A (p.Leu442=)
c.1311T>A (p.Leu437=)
c.1125T>A (p.Leu375=)
n.656-2792A>T
n.1239T>A
5g.143281908A>CCA361868420NR3C1c.2315T>G (p.Leu772Arg)
c.2222T>G (p.Leu741Arg)
c.2318T>G (p.Leu773Arg)
c.2181+660T>G (n.2181+660T>G)
c.2237T>G (p.Leu746Arg)
c.2060T>G (p.Leu687Arg)
c.2048T>G (p.Leu683Arg)
c.2024T>G (p.Leu675Arg)
c.1370T>G (p.Leu457Arg)
c.1325T>G (p.Leu442Arg)
c.1310T>G (p.Leu437Arg)
c.1124T>G (p.Leu375Arg)
n.656-2791A>C
n.1238T>G
5g.143281908A>GCA361868421NR3C1c.2315T>C (p.Leu772Pro)
c.2222T>C (p.Leu741Pro)
c.2318T>C (p.Leu773Pro)
c.2181+660T>C (n.2181+660T>C)
c.2237T>C (p.Leu746Pro)
c.2060T>C (p.Leu687Pro)
c.2048T>C (p.Leu683Pro)
c.2024T>C (p.Leu675Pro)
c.1370T>C (p.Leu457Pro)
c.1325T>C (p.Leu442Pro)
c.1310T>C (p.Leu437Pro)
c.1124T>C (p.Leu375Pro)
n.656-2791A>G
n.1238T>C
COSMIC
5g.143281908A>TCA361868422NR3C1c.2315T>A (p.Leu772His)
c.2222T>A (p.Leu741His)
c.2318T>A (p.Leu773His)
c.2181+660T>A (n.2181+660T>A)
c.2237T>A (p.Leu746His)
c.2060T>A (p.Leu687His)
c.2048T>A (p.Leu683His)
c.2024T>A (p.Leu675His)
c.1370T>A (p.Leu457His)
c.1325T>A (p.Leu442His)
c.1310T>A (p.Leu437His)
c.1124T>A (p.Leu375His)
n.656-2791A>T
n.1238T>A
5g.143281909G>ACA361868423NR3C1c.2314C>T (p.Leu772Phe)
c.2221C>T (p.Leu741Phe)
c.2317C>T (p.Leu773Phe)
c.2181+659C>T (n.2181+659C>T)
c.2236C>T (p.Leu746Phe)
c.2059C>T (p.Leu687Phe)
c.2047C>T (p.Leu683Phe)
c.2023C>T (p.Leu675Phe)
c.1369C>T (p.Leu457Phe)
c.1324C>T (p.Leu442Phe)
c.1309C>T (p.Leu437Phe)
c.1123C>T (p.Leu375Phe)
n.656-2790G>A
n.1237C>T
5g.143281909G>CCA361868424NR3C1c.2314C>G (p.Leu772Val)
c.2221C>G (p.Leu741Val)
c.2317C>G (p.Leu773Val)
c.2181+659C>G (n.2181+659C>G)
c.2236C>G (p.Leu746Val)
c.2059C>G (p.Leu687Val)
c.2047C>G (p.Leu683Val)
c.2023C>G (p.Leu675Val)
c.1369C>G (p.Leu457Val)
c.1324C>G (p.Leu442Val)
c.1309C>G (p.Leu437Val)
c.1123C>G (p.Leu375Val)
n.656-2790G>C
n.1237C>G
5g.143281909G>TCA361868425NR3C1c.2314C>A (p.Leu772Ile)
c.2221C>A (p.Leu741Ile)
c.2317C>A (p.Leu773Ile)
c.2181+659C>A (n.2181+659C>A)
c.2236C>A (p.Leu746Ile)
c.2059C>A (p.Leu687Ile)
c.2047C>A (p.Leu683Ile)
c.2023C>A (p.Leu675Ile)
c.1369C>A (p.Leu457Ile)
c.1324C>A (p.Leu442Ile)
c.1309C>A (p.Leu437Ile)
c.1123C>A (p.Leu375Ile)
n.656-2790G>T
n.1237C>A
5g.143281910T>ACA361868426NR3C1c.2313A>T (p.Lys771Asn)
c.2220A>T (p.Lys740Asn)
c.2316A>T (p.Lys772Asn)
c.2181+658A>T (n.2181+658A>T)
c.2235A>T (p.Lys745Asn)
c.2058A>T (p.Lys686Asn)
c.2046A>T (p.Lys682Asn)
c.2022A>T (p.Lys674Asn)
c.1368A>T (p.Lys456Asn)
c.1323A>T (p.Lys441Asn)
c.1308A>T (p.Lys436Asn)
c.1122A>T (p.Lys374Asn)
n.656-2789T>A
n.1236A>T
5g.143281910T>CCA446961837NR3C1c.2313A>G (p.Lys771=)
c.2220A>G (p.Lys740=)
c.2316A>G (p.Lys772=)
c.2181+658A>G (n.2181+658A>G)
c.2235A>G (p.Lys745=)
c.2058A>G (p.Lys686=)
c.2046A>G (p.Lys682=)
c.2022A>G (p.Lys674=)
c.1368A>G (p.Lys456=)
c.1323A>G (p.Lys441=)
c.1308A>G (p.Lys436=)
c.1122A>G (p.Lys374=)
n.656-2789T>C
n.1236A>G
dbSNP gnomAD v3 gnomAD v4
5g.143281910T>GCA361868427NR3C1c.2313A>C (p.Lys771Asn)
c.2220A>C (p.Lys740Asn)
c.2316A>C (p.Lys772Asn)
c.2181+658A>C (n.2181+658A>C)
c.2235A>C (p.Lys745Asn)
c.2058A>C (p.Lys686Asn)
c.2046A>C (p.Lys682Asn)
c.2022A>C (p.Lys674Asn)
c.1368A>C (p.Lys456Asn)
c.1323A>C (p.Lys441Asn)
c.1308A>C (p.Lys436Asn)
c.1122A>C (p.Lys374Asn)
n.656-2789T>G
n.1236A>C
5g.143281915dupCA645567693NR3C1c.2313dup (p.Leu772ThrfsTer27)
c.2220dup (p.Leu741ThrfsTer27)
c.2316dup (p.Leu773ThrfsTer27)
c.2181+658dup (n.2181+658dup)
c.2235dup (p.Leu746ThrfsTer27)
c.2058dup (p.Leu687ThrfsTer27)
c.2046dup (p.Leu683ThrfsTer27)
c.2022dup (p.Leu675ThrfsTer27)
c.1368dup (p.Leu457ThrfsTer27)
c.1323dup (p.Leu442ThrfsTer27)
c.1308dup (p.Leu437ThrfsTer27)
c.1122dup (p.Leu375ThrfsTer27)
n.656-2784dup
n.1236dup
gnomAD v4 COSMIC
5g.143281915delCA645567692NR3C1c.2313del (p.Lys771AsnfsTer?)
c.2220del (p.Lys740AsnfsTer?)
c.2316del (p.Lys772AsnfsTer?)
c.2181+658del (n.2181+658del)
c.2235del (p.Lys745AsnfsTer?)
c.2058del (p.Lys686AsnfsTer?)
c.2046del (p.Lys682AsnfsTer?)
c.2022del (p.Lys674AsnfsTer?)
c.1368del (p.Lys456AsnfsTer?)
c.1323del (p.Lys441AsnfsTer?)
c.1308del (p.Lys436AsnfsTer?)
c.1122del (p.Lys374AsnfsTer?)
n.656-2784del
n.1236del
COSMIC
5g.143281911T>ACA361868429NR3C1c.2312A>T (p.Lys771Ile)
c.2219A>T (p.Lys740Ile)
c.2315A>T (p.Lys772Ile)
c.2181+657A>T (n.2181+657A>T)
c.2234A>T (p.Lys745Ile)
c.2057A>T (p.Lys686Ile)
c.2045A>T (p.Lys682Ile)
c.2021A>T (p.Lys674Ile)
c.1367A>T (p.Lys456Ile)
c.1322A>T (p.Lys441Ile)
c.1307A>T (p.Lys436Ile)
c.1121A>T (p.Lys374Ile)
n.656-2788T>A
n.1235A>T
5g.143281911T>CCA361868430NR3C1c.2312A>G (p.Lys771Arg)
c.2219A>G (p.Lys740Arg)
c.2315A>G (p.Lys772Arg)
c.2181+657A>G (n.2181+657A>G)
c.2234A>G (p.Lys745Arg)
c.2057A>G (p.Lys686Arg)
c.2045A>G (p.Lys682Arg)
c.2021A>G (p.Lys674Arg)
c.1367A>G (p.Lys456Arg)
c.1322A>G (p.Lys441Arg)
c.1307A>G (p.Lys436Arg)
c.1121A>G (p.Lys374Arg)
n.656-2788T>C
n.1235A>G
5g.143281911T>GCA361868428NR3C1c.2312A>C (p.Lys771Thr)
c.2219A>C (p.Lys740Thr)
c.2315A>C (p.Lys772Thr)
c.2181+657A>C (n.2181+657A>C)
c.2234A>C (p.Lys745Thr)
c.2057A>C (p.Lys686Thr)
c.2045A>C (p.Lys682Thr)
c.2021A>C (p.Lys674Thr)
c.1367A>C (p.Lys456Thr)
c.1322A>C (p.Lys441Thr)
c.1307A>C (p.Lys436Thr)
c.1121A>C (p.Lys374Thr)
n.656-2788T>G
n.1235A>C
5g.143281912T>ACA361868431NR3C1c.2311A>T (p.Lys771Ter)
c.2218A>T (p.Lys740Ter)
c.2314A>T (p.Lys772Ter)
c.2181+656A>T (n.2181+656A>T)
c.2233A>T (p.Lys745Ter)
c.2056A>T (p.Lys686Ter)
c.2044A>T (p.Lys682Ter)
c.2020A>T (p.Lys674Ter)
c.1366A>T (p.Lys456Ter)
c.1321A>T (p.Lys441Ter)
c.1306A>T (p.Lys436Ter)
c.1120A>T (p.Lys374Ter)
n.656-2787T>A
n.1234A>T
5g.143281912T>CCA361868432NR3C1c.2311A>G (p.Lys771Glu)
c.2218A>G (p.Lys740Glu)
c.2314A>G (p.Lys772Glu)
c.2181+656A>G (n.2181+656A>G)
c.2233A>G (p.Lys745Glu)
c.2056A>G (p.Lys686Glu)
c.2044A>G (p.Lys682Glu)
c.2020A>G (p.Lys674Glu)
c.1366A>G (p.Lys456Glu)
c.1321A>G (p.Lys441Glu)
c.1306A>G (p.Lys436Glu)
c.1120A>G (p.Lys374Glu)
n.656-2787T>C
n.1234A>G
5g.143281912T>GCA361868433NR3C1c.2311A>C (p.Lys771Gln)
c.2218A>C (p.Lys740Gln)
c.2314A>C (p.Lys772Gln)
c.2181+656A>C (n.2181+656A>C)
c.2233A>C (p.Lys745Gln)
c.2056A>C (p.Lys686Gln)
c.2044A>C (p.Lys682Gln)
c.2020A>C (p.Lys674Gln)
c.1366A>C (p.Lys456Gln)
c.1321A>C (p.Lys441Gln)
c.1306A>C (p.Lys436Gln)
c.1120A>C (p.Lys374Gln)
n.656-2787T>G
n.1234A>C
5g.143281913T>ACA361868434NR3C1c.2310A>T (p.Lys770Asn)
c.2217A>T (p.Lys739Asn)
c.2313A>T (p.Lys771Asn)
c.2181+655A>T (n.2181+655A>T)
c.2232A>T (p.Lys744Asn)
c.2055A>T (p.Lys685Asn)
c.2043A>T (p.Lys681Asn)
c.2019A>T (p.Lys673Asn)
c.1365A>T (p.Lys455Asn)
c.1320A>T (p.Lys440Asn)
c.1305A>T (p.Lys435Asn)
c.1119A>T (p.Lys373Asn)
n.656-2786T>A
n.1233A>T
5g.143281913T>CCA446961838NR3C1c.2310A>G (p.Lys770=)
c.2217A>G (p.Lys739=)
c.2313A>G (p.Lys771=)
c.2181+655A>G (n.2181+655A>G)
c.2232A>G (p.Lys744=)
c.2055A>G (p.Lys685=)
c.2043A>G (p.Lys681=)
c.2019A>G (p.Lys673=)
c.1365A>G (p.Lys455=)
c.1320A>G (p.Lys440=)
c.1305A>G (p.Lys435=)
c.1119A>G (p.Lys373=)
n.656-2786T>C
n.1233A>G
5g.143281913T>GCA361868435NR3C1c.2310A>C (p.Lys770Asn)
c.2217A>C (p.Lys739Asn)
c.2313A>C (p.Lys771Asn)
c.2181+655A>C (n.2181+655A>C)
c.2232A>C (p.Lys744Asn)
c.2055A>C (p.Lys685Asn)
c.2043A>C (p.Lys681Asn)
c.2019A>C (p.Lys673Asn)
c.1365A>C (p.Lys455Asn)
c.1320A>C (p.Lys440Asn)
c.1305A>C (p.Lys435Asn)
c.1119A>C (p.Lys373Asn)
n.656-2786T>G
n.1233A>C
5g.143281914T>ACA361868436NR3C1c.2309A>T (p.Lys770Ile)
c.2216A>T (p.Lys739Ile)
c.2312A>T (p.Lys771Ile)
c.2181+654A>T (n.2181+654A>T)
c.2231A>T (p.Lys744Ile)
c.2054A>T (p.Lys685Ile)
c.2042A>T (p.Lys681Ile)
c.2018A>T (p.Lys673Ile)
c.1364A>T (p.Lys455Ile)
c.1319A>T (p.Lys440Ile)
c.1304A>T (p.Lys435Ile)
c.1118A>T (p.Lys373Ile)
n.656-2785T>A
n.1232A>T
5g.143281914T>CCA3486680NR3C1c.2309A>G (p.Lys770Arg)
c.2216A>G (p.Lys739Arg)
c.2312A>G (p.Lys771Arg)
c.2181+654A>G (n.2181+654A>G)
c.2231A>G (p.Lys744Arg)
c.2054A>G (p.Lys685Arg)
c.2042A>G (p.Lys681Arg)
c.2018A>G (p.Lys673Arg)
c.1364A>G (p.Lys455Arg)
c.1319A>G (p.Lys440Arg)
c.1304A>G (p.Lys435Arg)
c.1118A>G (p.Lys373Arg)
n.656-2785T>C
n.1232A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.143281914T>GCA361868437NR3C1c.2309A>C (p.Lys770Thr)
c.2216A>C (p.Lys739Thr)
c.2312A>C (p.Lys771Thr)
c.2181+654A>C (n.2181+654A>C)
c.2231A>C (p.Lys744Thr)
c.2054A>C (p.Lys685Thr)
c.2042A>C (p.Lys681Thr)
c.2018A>C (p.Lys673Thr)
c.1364A>C (p.Lys455Thr)
c.1319A>C (p.Lys440Thr)
c.1304A>C (p.Lys435Thr)
c.1118A>C (p.Lys373Thr)
n.656-2785T>G
n.1232A>C
5g.143281915T>ACA361868438NR3C1c.2308A>T (p.Lys770Ter)
c.2215A>T (p.Lys739Ter)
c.2311A>T (p.Lys771Ter)
c.2181+653A>T (n.2181+653A>T)
c.2230A>T (p.Lys744Ter)
c.2053A>T (p.Lys685Ter)
c.2041A>T (p.Lys681Ter)
c.2017A>T (p.Lys673Ter)
c.1363A>T (p.Lys455Ter)
c.1318A>T (p.Lys440Ter)
c.1303A>T (p.Lys435Ter)
c.1117A>T (p.Lys373Ter)
n.656-2784T>A
n.1231A>T
5g.143281915T>CCA361868439NR3C1c.2308A>G (p.Lys770Glu)
c.2215A>G (p.Lys739Glu)
c.2311A>G (p.Lys771Glu)
c.2181+653A>G (n.2181+653A>G)
c.2230A>G (p.Lys744Glu)
c.2053A>G (p.Lys685Glu)
c.2041A>G (p.Lys681Glu)
c.2017A>G (p.Lys673Glu)
c.1363A>G (p.Lys455Glu)
c.1318A>G (p.Lys440Glu)
c.1303A>G (p.Lys435Glu)
c.1117A>G (p.Lys373Glu)
n.656-2784T>C
n.1231A>G
5g.143281915T>GCA361868440NR3C1c.2308A>C (p.Lys770Gln)
c.2215A>C (p.Lys739Gln)
c.2311A>C (p.Lys771Gln)
c.2181+653A>C (n.2181+653A>C)
c.2230A>C (p.Lys744Gln)
c.2053A>C (p.Lys685Gln)
c.2041A>C (p.Lys681Gln)
c.2017A>C (p.Lys673Gln)
c.1363A>C (p.Lys455Gln)
c.1318A>C (p.Lys440Gln)
c.1303A>C (p.Lys435Gln)
c.1117A>C (p.Lys373Gln)
n.656-2784T>G
n.1231A>C
5g.143281916G>ACA446961840NR3C1c.2307C>T (p.Ile769=)
c.2214C>T (p.Ile738=)
c.2310C>T (p.Ile770=)
c.2181+652C>T (n.2181+652C>T)
c.2229C>T (p.Ile743=)
c.2052C>T (p.Ile684=)
c.2040C>T (p.Ile680=)
c.2016C>T (p.Ile672=)
c.1362C>T (p.Ile454=)
c.1317C>T (p.Ile439=)
c.1302C>T (p.Ile434=)
c.1116C>T (p.Ile372=)
n.656-2783G>A
n.1230C>T
5g.143281916G>CCA10619252NR3C1c.2307C>G (p.Ile769Met)
c.2214C>G (p.Ile738Met)
c.2310C>G (p.Ile770Met)
c.2181+652C>G (n.2181+652C>G)
c.2229C>G (p.Ile743Met)
c.2052C>G (p.Ile684Met)
c.2040C>G (p.Ile680Met)
c.2016C>G (p.Ile672Met)
c.1362C>G (p.Ile454Met)
c.1317C>G (p.Ile439Met)
c.1302C>G (p.Ile434Met)
c.1116C>G (p.Ile372Met)
n.656-2783G>C
n.1230C>G
ClinVar dbSNP gnomAD v4
5g.143281916G>TCA446961839NR3C1c.2307C>A (p.Ile769=)
c.2214C>A (p.Ile738=)
c.2310C>A (p.Ile770=)
c.2181+652C>A (n.2181+652C>A)
c.2229C>A (p.Ile743=)
c.2052C>A (p.Ile684=)
c.2040C>A (p.Ile680=)
c.2016C>A (p.Ile672=)
c.1362C>A (p.Ile454=)
c.1317C>A (p.Ile439=)
c.1302C>A (p.Ile434=)
c.1116C>A (p.Ile372=)
n.656-2783G>T
n.1230C>A
gnomAD v4
5g.143281917A>CCA361868442NR3C1c.2306T>G (p.Ile769Ser)
c.2213T>G (p.Ile738Ser)
c.2309T>G (p.Ile770Ser)
c.2181+651T>G (n.2181+651T>G)
c.2228T>G (p.Ile743Ser)
c.2051T>G (p.Ile684Ser)
c.2039T>G (p.Ile680Ser)
c.2015T>G (p.Ile672Ser)
c.1361T>G (p.Ile454Ser)
c.1316T>G (p.Ile439Ser)
c.1301T>G (p.Ile434Ser)
c.1115T>G (p.Ile372Ser)
n.656-2782A>C
n.1229T>G
5g.143281917A>GCA361868443NR3C1c.2306T>C (p.Ile769Thr)
c.2213T>C (p.Ile738Thr)
c.2309T>C (p.Ile770Thr)
c.2181+651T>C (n.2181+651T>C)
c.2228T>C (p.Ile743Thr)
c.2051T>C (p.Ile684Thr)
c.2039T>C (p.Ile680Thr)
c.2015T>C (p.Ile672Thr)
c.1361T>C (p.Ile454Thr)
c.1316T>C (p.Ile439Thr)
c.1301T>C (p.Ile434Thr)
c.1115T>C (p.Ile372Thr)
n.656-2782A>G
n.1229T>C
dbSNP gnomAD v2 gnomAD v4
5g.143281917A>TCA361868441NR3C1c.2306T>A (p.Ile769Asn)
c.2213T>A (p.Ile738Asn)
c.2309T>A (p.Ile770Asn)
c.2181+651T>A (n.2181+651T>A)
c.2228T>A (p.Ile743Asn)
c.2051T>A (p.Ile684Asn)
c.2039T>A (p.Ile680Asn)
c.2015T>A (p.Ile672Asn)
c.1361T>A (p.Ile454Asn)
c.1316T>A (p.Ile439Asn)
c.1301T>A (p.Ile434Asn)
c.1115T>A (p.Ile372Asn)
n.656-2782A>T
n.1229T>A
5g.143281918T>ACA361868444NR3C1c.2305A>T (p.Ile769Phe)
c.2212A>T (p.Ile738Phe)
c.2308A>T (p.Ile770Phe)
c.2181+650A>T (n.2181+650A>T)
c.2227A>T (p.Ile743Phe)
c.2050A>T (p.Ile684Phe)
c.2038A>T (p.Ile680Phe)
c.2014A>T (p.Ile672Phe)
c.1360A>T (p.Ile454Phe)
c.1315A>T (p.Ile439Phe)
c.1300A>T (p.Ile434Phe)
c.1114A>T (p.Ile372Phe)
n.656-2781T>A
n.1228A>T
5g.143281918T>CCA361868445NR3C1c.2305A>G (p.Ile769Val)
c.2212A>G (p.Ile738Val)
c.2308A>G (p.Ile770Val)
c.2181+650A>G (n.2181+650A>G)
c.2227A>G (p.Ile743Val)
c.2050A>G (p.Ile684Val)
c.2038A>G (p.Ile680Val)
c.2014A>G (p.Ile672Val)
c.1360A>G (p.Ile454Val)
c.1315A>G (p.Ile439Val)
c.1300A>G (p.Ile434Val)
c.1114A>G (p.Ile372Val)
n.656-2781T>C
n.1228A>G
5g.143281918T>GCA361868446NR3C1c.2305A>C (p.Ile769Leu)
c.2212A>C (p.Ile738Leu)
c.2308A>C (p.Ile770Leu)
c.2181+650A>C (n.2181+650A>C)
c.2227A>C (p.Ile743Leu)
c.2050A>C (p.Ile684Leu)
c.2038A>C (p.Ile680Leu)
c.2014A>C (p.Ile672Leu)
c.1360A>C (p.Ile454Leu)
c.1315A>C (p.Ile439Leu)
c.1300A>C (p.Ile434Leu)
c.1114A>C (p.Ile372Leu)
n.656-2781T>G
n.1228A>C
gnomAD v4
5g.143281919A>CCA361868447NR3C1c.2304T>G (p.Asn768Lys)
c.2211T>G (p.Asn737Lys)
c.2307T>G (p.Asn769Lys)
c.2181+649T>G (n.2181+649T>G)
c.2226T>G (p.Asn742Lys)
c.2049T>G (p.Asn683Lys)
c.2037T>G (p.Asn679Lys)
c.2013T>G (p.Asn671Lys)
c.1359T>G (p.Asn453Lys)
c.1314T>G (p.Asn438Lys)
c.1299T>G (p.Asn433Lys)
c.1113T>G (p.Asn371Lys)
n.656-2780A>C
n.1227T>G
5g.143281919A>GCA446961841NR3C1c.2304T>C (p.Asn768=)
c.2211T>C (p.Asn737=)
c.2307T>C (p.Asn769=)
c.2181+649T>C (n.2181+649T>C)
c.2226T>C (p.Asn742=)
c.2049T>C (p.Asn683=)
c.2037T>C (p.Asn679=)
c.2013T>C (p.Asn671=)
c.1359T>C (p.Asn453=)
c.1314T>C (p.Asn438=)
c.1299T>C (p.Asn433=)
c.1113T>C (p.Asn371=)
n.656-2780A>G
n.1227T>C
dbSNP
5g.143281919A>TCA361868448NR3C1c.2304T>A (p.Asn768Lys)
c.2211T>A (p.Asn737Lys)
c.2307T>A (p.Asn769Lys)
c.2181+649T>A (n.2181+649T>A)
c.2226T>A (p.Asn742Lys)
c.2049T>A (p.Asn683Lys)
c.2037T>A (p.Asn679Lys)
c.2013T>A (p.Asn671Lys)
c.1359T>A (p.Asn453Lys)
c.1314T>A (p.Asn438Lys)
c.1299T>A (p.Asn433Lys)
c.1113T>A (p.Asn371Lys)
n.656-2780A>T
n.1227T>A
5g.143281920T>ACA361868451NR3C1c.2303A>T (p.Asn768Ile)
c.2210A>T (p.Asn737Ile)
c.2306A>T (p.Asn769Ile)
c.2181+648A>T (n.2181+648A>T)
c.2225A>T (p.Asn742Ile)
c.2048A>T (p.Asn683Ile)
c.2036A>T (p.Asn679Ile)
c.2012A>T (p.Asn671Ile)
c.1358A>T (p.Asn453Ile)
c.1313A>T (p.Asn438Ile)
c.1298A>T (p.Asn433Ile)
c.1112A>T (p.Asn371Ile)
n.656-2779T>A
n.1226A>T
5g.143281920T>CCA361868449NR3C1c.2303A>G (p.Asn768Ser)
c.2210A>G (p.Asn737Ser)
c.2306A>G (p.Asn769Ser)
c.2181+648A>G (n.2181+648A>G)
c.2225A>G (p.Asn742Ser)
c.2048A>G (p.Asn683Ser)
c.2036A>G (p.Asn679Ser)
c.2012A>G (p.Asn671Ser)
c.1358A>G (p.Asn453Ser)
c.1313A>G (p.Asn438Ser)
c.1298A>G (p.Asn433Ser)
c.1112A>G (p.Asn371Ser)
n.656-2779T>C
n.1226A>G
5g.143281920T>GCA361868450NR3C1c.2303A>C (p.Asn768Thr)
c.2210A>C (p.Asn737Thr)
c.2306A>C (p.Asn769Thr)
c.2181+648A>C (n.2181+648A>C)
c.2225A>C (p.Asn742Thr)
c.2048A>C (p.Asn683Thr)
c.2036A>C (p.Asn679Thr)
c.2012A>C (p.Asn671Thr)
c.1358A>C (p.Asn453Thr)
c.1313A>C (p.Asn438Thr)
c.1298A>C (p.Asn433Thr)
c.1112A>C (p.Asn371Thr)
n.656-2779T>G
n.1226A>C
5g.143281921T>ACA361868452NR3C1c.2302A>T (p.Asn768Tyr)
c.2209A>T (p.Asn737Tyr)
c.2305A>T (p.Asn769Tyr)
c.2181+647A>T (n.2181+647A>T)
c.2224A>T (p.Asn742Tyr)
c.2047A>T (p.Asn683Tyr)
c.2035A>T (p.Asn679Tyr)
c.2011A>T (p.Asn671Tyr)
c.1357A>T (p.Asn453Tyr)
c.1312A>T (p.Asn438Tyr)
c.1297A>T (p.Asn433Tyr)
c.1111A>T (p.Asn371Tyr)
n.656-2778T>A
n.1225A>T
5g.143281921T>CCA3486681NR3C1c.2302A>G (p.Asn768Asp)
c.2209A>G (p.Asn737Asp)
c.2305A>G (p.Asn769Asp)
c.2181+647A>G (n.2181+647A>G)
c.2224A>G (p.Asn742Asp)
c.2047A>G (p.Asn683Asp)
c.2035A>G (p.Asn679Asp)
c.2011A>G (p.Asn671Asp)
c.1357A>G (p.Asn453Asp)
c.1312A>G (p.Asn438Asp)
c.1297A>G (p.Asn433Asp)
c.1111A>G (p.Asn371Asp)
n.656-2778T>C
n.1225A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.143281921T>GCA361868453NR3C1c.2302A>C (p.Asn768His)
c.2209A>C (p.Asn737His)
c.2305A>C (p.Asn769His)
c.2181+647A>C (n.2181+647A>C)
c.2224A>C (p.Asn742His)
c.2047A>C (p.Asn683His)
c.2035A>C (p.Asn679His)
c.2011A>C (p.Asn671His)
c.1357A>C (p.Asn453His)
c.1312A>C (p.Asn438His)
c.1297A>C (p.Asn433His)
c.1111A>C (p.Asn371His)
n.656-2778T>G
n.1225A>C
5g.143281922T>ACA446961842NR3C1c.2301A>T (p.Gly767=)
c.2208A>T (p.Gly736=)
c.2304A>T (p.Gly768=)
c.2181+646A>T (n.2181+646A>T)
c.2223A>T (p.Gly741=)
c.2046A>T (p.Gly682=)
c.2034A>T (p.Gly678=)
c.2010A>T (p.Gly670=)
c.1356A>T (p.Gly452=)
c.1311A>T (p.Gly437=)
c.1296A>T (p.Gly432=)
c.1110A>T (p.Gly370=)
n.656-2777T>A
n.1224A>T
5g.143281922T>CCA446961843NR3C1c.2301A>G (p.Gly767=)
c.2208A>G (p.Gly736=)
c.2304A>G (p.Gly768=)
c.2181+646A>G (n.2181+646A>G)
c.2223A>G (p.Gly741=)
c.2046A>G (p.Gly682=)
c.2034A>G (p.Gly678=)
c.2010A>G (p.Gly670=)
c.1356A>G (p.Gly452=)
c.1311A>G (p.Gly437=)
c.1296A>G (p.Gly432=)
c.1110A>G (p.Gly370=)
n.656-2777T>C
n.1224A>G
5g.143281922T>GCA446961844NR3C1c.2301A>C (p.Gly767=)
c.2208A>C (p.Gly736=)
c.2304A>C (p.Gly768=)
c.2181+646A>C (n.2181+646A>C)
c.2223A>C (p.Gly741=)
c.2046A>C (p.Gly682=)
c.2034A>C (p.Gly678=)
c.2010A>C (p.Gly670=)
c.1356A>C (p.Gly452=)
c.1311A>C (p.Gly437=)
c.1296A>C (p.Gly432=)
c.1110A>C (p.Gly370=)
n.656-2777T>G
n.1224A>C
5g.143281923C>ACA361868454NR3C1c.2300G>T (p.Gly767Val)
c.2207G>T (p.Gly736Val)
c.2303G>T (p.Gly768Val)
c.2181+645G>T (n.2181+645G>T)
c.2222G>T (p.Gly741Val)
c.2045G>T (p.Gly682Val)
c.2033G>T (p.Gly678Val)
c.2009G>T (p.Gly670Val)
c.1355G>T (p.Gly452Val)
c.1310G>T (p.Gly437Val)
c.1295G>T (p.Gly432Val)
c.1109G>T (p.Gly370Val)
n.656-2776C>A
n.1223G>T
5g.143281923C>GCA361868455NR3C1c.2300G>C (p.Gly767Ala)
c.2207G>C (p.Gly736Ala)
c.2303G>C (p.Gly768Ala)
c.2181+645G>C (n.2181+645G>C)
c.2222G>C (p.Gly741Ala)
c.2045G>C (p.Gly682Ala)
c.2033G>C (p.Gly678Ala)
c.2009G>C (p.Gly670Ala)
c.1355G>C (p.Gly452Ala)
c.1310G>C (p.Gly437Ala)
c.1295G>C (p.Gly432Ala)
c.1109G>C (p.Gly370Ala)
n.656-2776C>G
n.1223G>C
COSMIC
5g.143281923C>TCA361868456NR3C1c.2300G>A (p.Gly767Glu)
c.2207G>A (p.Gly736Glu)
c.2303G>A (p.Gly768Glu)
c.2181+645G>A (n.2181+645G>A)
c.2222G>A (p.Gly741Glu)
c.2045G>A (p.Gly682Glu)
c.2033G>A (p.Gly678Glu)
c.2009G>A (p.Gly670Glu)
c.1355G>A (p.Gly452Glu)
c.1310G>A (p.Gly437Glu)
c.1295G>A (p.Gly432Glu)
c.1109G>A (p.Gly370Glu)
n.656-2776C>T
n.1223G>A
5g.143281924C>ACA361868458NR3C1c.2299G>T (p.Gly767Ter)
c.2206G>T (p.Gly736Ter)
c.2302G>T (p.Gly768Ter)
c.2181+644G>T (n.2181+644G>T)
c.2221G>T (p.Gly741Ter)
c.2044G>T (p.Gly682Ter)
c.2032G>T (p.Gly678Ter)
c.2008G>T (p.Gly670Ter)
c.1354G>T (p.Gly452Ter)
c.1309G>T (p.Gly437Ter)
c.1294G>T (p.Gly432Ter)
c.1108G>T (p.Gly370Ter)
n.656-2775C>A
n.1222G>T
5g.143281924C>GCA361868459NR3C1c.2299G>C (p.Gly767Arg)
c.2206G>C (p.Gly736Arg)
c.2302G>C (p.Gly768Arg)
c.2181+644G>C (n.2181+644G>C)
c.2221G>C (p.Gly741Arg)
c.2044G>C (p.Gly682Arg)
c.2032G>C (p.Gly678Arg)
c.2008G>C (p.Gly670Arg)
c.1354G>C (p.Gly452Arg)
c.1309G>C (p.Gly437Arg)
c.1294G>C (p.Gly432Arg)
c.1108G>C (p.Gly370Arg)
n.656-2775C>G
n.1222G>C
5g.143281924C>TCA361868457NR3C1c.2299G>A (p.Gly767Arg)
c.2206G>A (p.Gly736Arg)
c.2302G>A (p.Gly768Arg)
c.2181+644G>A (n.2181+644G>A)
c.2221G>A (p.Gly741Arg)
c.2044G>A (p.Gly682Arg)
c.2032G>A (p.Gly678Arg)
c.2008G>A (p.Gly670Arg)
c.1354G>A (p.Gly452Arg)
c.1309G>A (p.Gly437Arg)
c.1294G>A (p.Gly432Arg)
c.1108G>A (p.Gly370Arg)
n.656-2775C>T
n.1222G>A
dbSNP
5g.143281925A=CA1630834408NR3C1c.2298T= (p.Asn766=)
c.2205T= (p.Asn735=)
c.2301T= (p.Asn767=)
c.2181+643T= (n.2181+643T=)
c.2220T= (p.Asn740=)
c.2043T= (p.Asn681=)
c.2031T= (p.Asn677=)
c.2007T= (p.Asn669=)
c.1353T= (p.Asn451=)
c.1308T= (p.Asn436=)
c.1293T= (p.Asn431=)
c.1107T= (p.Asn369=)
n.656-2774A=
n.1221T=
5g.143281925A>CCA361868460NR3C1c.2298T>G (p.Asn766Lys)
c.2205T>G (p.Asn735Lys)
c.2301T>G (p.Asn767Lys)
c.2181+643T>G (n.2181+643T>G)
c.2220T>G (p.Asn740Lys)
c.2043T>G (p.Asn681Lys)
c.2031T>G (p.Asn677Lys)
c.2007T>G (p.Asn669Lys)
c.1353T>G (p.Asn451Lys)
c.1308T>G (p.Asn436Lys)
c.1293T>G (p.Asn431Lys)
c.1107T>G (p.Asn369Lys)
n.656-2774A>C
n.1221T>G
5g.143281925A>GCA3486682NR3C1c.2298T>C (p.Asn766=)
c.2205T>C (p.Asn735=)
c.2301T>C (p.Asn767=)
c.2181+643T>C (n.2181+643T>C)
c.2220T>C (p.Asn740=)
c.2043T>C (p.Asn681=)
c.2031T>C (p.Asn677=)
c.2007T>C (p.Asn669=)
c.1353T>C (p.Asn451=)
c.1308T>C (p.Asn436=)
c.1293T>C (p.Asn431=)
c.1107T>C (p.Asn369=)
n.656-2774A>G
n.1221T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.143281925A>TCA361868461NR3C1c.2298T>A (p.Asn766Lys)
c.2205T>A (p.Asn735Lys)
c.2301T>A (p.Asn767Lys)
c.2181+643T>A (n.2181+643T>A)
c.2220T>A (p.Asn740Lys)
c.2043T>A (p.Asn681Lys)
c.2031T>A (p.Asn677Lys)
c.2007T>A (p.Asn669Lys)
c.1353T>A (p.Asn451Lys)
c.1308T>A (p.Asn436Lys)
c.1293T>A (p.Asn431Lys)
c.1107T>A (p.Asn369Lys)
n.656-2774A>T
n.1221T>A
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

Number of alleles fetched