NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)
|
rs61752769
|
0.02016
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_004285.4(H6PD):c.1053C>T (p.Gly351=)
|
rs34448374
|
0.00319
|
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=)
|
rs61752765
|
0.00216
|
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr)
|
rs34580447
|
0.00150
|
NM_000176.3(NR3C1):c.2182-9C>G
|
rs72542757
|
0.00121
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)
|
rs61751149
|
0.00112
|
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)
|
rs61732108
|
0.00090
|
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=)
|
rs61751150
|
0.00079
|
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)
|
rs767333157
|
0.00075
|
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=)
|
rs67902340
|
0.00061
|
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=)
|
rs67300719
|
0.00061
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
|
rs75429891
|
0.00042
|
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=)
|
rs143211108
|
0.00034
|
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)
|
rs146124466
|
0.00032
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
0.00023
|
NM_000198.4(HSD3B2):c.35G>A (p.Gly12Glu)
|
rs756607591
|
0.00023
|
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)
|
rs193922534
|
0.00023
|
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser)
|
rs764636694
|
0.00023
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)
|
rs370732845
|
0.00016
|
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)
|
rs143038843
|
0.00016
|
NM_001395413.1(POR):c.1208G>A (p.Arg403His)
|
rs72557929
|
0.00016
|
NM_000497.4(CYP11B1):c.77C>T (p.Thr26Met)
|
rs139569725
|
0.00015
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln)
|
rs201103987
|
0.00014
|
NM_000497.4(CYP11B1):c.395+10G>A
|
rs768465089
|
0.00013
|
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)
|
rs587675471
|
0.00011
|
NM_000349.3(STAR):c.815G>A (p.Arg272His)
|
rs540090187
|
0.00010
|
NM_000102.4(CYP17A1):c.-15C>T
|
rs140012815
|
0.00009
|
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile)
|
rs72559703
|
0.00009
|
NM_000349.3(STAR):c.759G>A (p.Lys253=)
|
rs146000965
|
0.00009
|
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)
|
rs201222065
|
0.00008
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr)
|
rs140123041
|
0.00008
|
NM_000349.3(STAR):c.64+1G>T
|
rs765968701
|
0.00007
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
NM_000176.3(NR3C1):c.1082C>T (p.Ser361Phe)
|
rs749388815
|
0.00006
|
NM_000349.3(STAR):c.738C>T (p.Asp246=)
|
rs758031518
|
0.00006
|
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser)
|
rs372115638
|
0.00006
|
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp)
|
rs373856010
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_001395413.1(POR):c.1465G>A (p.Val489Met)
|
rs377451454
|
0.00006
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His)
|
rs376074317
|
0.00005
|
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly)
|
rs142435666
|
0.00005
|
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)
|
rs757033996
|
0.00005
|
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)
|
rs80358217
|
0.00005
|
NM_000349.3(STAR):c.402T>C (p.Tyr134=)
|
rs144881901
|
0.00005
|
NM_000349.3(STAR):c.563G>A (p.Arg188His)
|
rs61736315
|
0.00005
|
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)
|
rs104894085
|
0.00005
|
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)
|
rs61751135
|
0.00005
|
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)
|
rs200151403
|
0.00005
|
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)
|
rs375833424
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)
|
rs762479018
|
0.00004
|
NM_000349.3(STAR):c.488A>T (p.Asp163Val)
|
rs201579617
|
0.00004
|
NM_000349.3(STAR):c.64+7G>C
|
rs769781083
|
0.00004
|
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)
|
rs576292844
|
0.00004
|
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=)
|
rs779461311
|
0.00004
|
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=)
|
rs772530391
|
0.00004
|
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys)
|
rs777913851
|
0.00004
|
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_001395413.1(POR):c.311G>A (p.Arg104His)
|
rs782776557
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)
|
rs879802265
|
0.00003
|
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=)
|
rs1043151688
|
0.00003
|
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)
|
rs104894090
|
0.00003
|
NM_000349.3(STAR):c.653C>T (p.Ala218Val)
|
rs137852690
|
0.00003
|
NM_000349.3(STAR):c.824T>C (p.Leu275Pro)
|
rs762245736
|
0.00003
|
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=)
|
rs200096159
|
0.00003
|
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)
|
rs375892072
|
0.00003
|
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=)
|
rs372647044
|
0.00003
|
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)
|
rs566306310
|
0.00003
|
NM_000500.9(CYP21A2):c.738+75C>T
|
rs1463196531
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_001395413.1(POR):c.205T>C (p.Phe69Leu)
|
rs782107314
|
0.00003
|
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)
|
rs367833709
|
0.00002
|
NM_000102.4(CYP17A1):c.654C>T (p.Val218=)
|
rs375350911
|
0.00002
|
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)
|
rs199919404
|
0.00002
|
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)
|
rs766474996
|
0.00002
|
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=)
|
rs996323669
|
0.00002
|
NM_000198.4(HSD3B2):c.867del (p.Met290fs)
|
rs767167623
|
0.00002
|
NM_000349.3(STAR):c.465+2T>C
|
rs777876822
|
0.00002
|
NM_000349.3(STAR):c.731G>A (p.Ser244Asn)
|
rs1331812230
|
0.00002
|
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)
|
rs765770519
|
0.00002
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000497.4(CYP11B1):c.800-6G>A
|
rs369207471
|
0.00002
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter)
|
rs781946801
|
0.00002
|
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
|
rs61754278
|
0.00001
|
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=)
|
rs755050448
|
0.00001
|
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp)
|
rs370973897
|
0.00001
|
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)
|
rs104894135
|
0.00001
|
NM_000102.4(CYP17A1):c.318C>T (p.Ser106=)
|
rs766679884
|
0.00001
|
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)
|
rs61754262
|
0.00001
|
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=)
|
rs778591928
|
0.00001
|
NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg)
|
rs751136795
|
0.00001
|
NM_000176.3(NR3C1):c.850A>G (p.Ile284Val)
|
rs766200119
|
0.00001
|
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)
|
rs148200568
|
0.00001
|
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)
|
rs147383167
|
0.00001
|
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter)
|
rs767128094
|
0.00001
|
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)
|
rs767147330
|
0.00001
|
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)
|
rs28934880
|
0.00001
|
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)
|
rs587628683
|
0.00001
|
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)
|
rs80358221
|
0.00001
|
NM_000349.3(STAR):c.211C>G (p.Gln71Glu)
|
rs1206007344
|
0.00001
|
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)
|
rs781281145
|
0.00001
|
NM_000349.3(STAR):c.558C>T (p.Ser186=)
|
rs757825631
|
0.00001
|
NM_000349.3(STAR):c.559G>A (p.Val187Met)
|
rs104894089
|
0.00001
|
NM_000349.3(STAR):c.577C>T (p.Arg193Ter)
|
rs387907235
|
0.00001
|
NM_000349.3(STAR):c.64+9T>C
|
rs761733155
|
0.00001
|
NM_000349.3(STAR):c.719del (p.Thr240fs)
|
rs1171152008
|
0.00001
|
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)
|
rs551783234
|
0.00001
|
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter)
|
rs1214983921
|
0.00001
|
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=)
|
rs776234575
|
0.00001
|
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg)
|
rs755448048
|
0.00001
|
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)
|
rs760880418
|
0.00001
|
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)
|
rs1412048304
|
0.00001
|
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)
|
rs764598023
|
0.00001
|
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)
|
rs104894069
|
0.00001
|
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)
|
rs267606755
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His)
|
rs367634557
|
0.00001
|
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)
|
rs775013399
|
0.00001
|
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=)
|
rs778601992
|
0.00001
|
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)
|
rs772733691
|
0.00001
|
NM_000497.4(CYP11B1):c.396-9C>T
|
rs1324660372
|
0.00001
|
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
|
rs193922540
|
0.00001
|
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)
|
rs140336749
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000497.4(CYP11B1):c.596-8C>T
|
rs1201914437
|
0.00001
|
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)
|
rs1377203108
|
0.00001
|
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)
|
rs1421641874
|
0.00001
|
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr)
|
rs751047685
|
0.00001
|
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)
|
rs387907573
|
0.00001
|
NM_000497.4(CYP11B1):c.948G>C (p.Val316=)
|
rs778295450
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)
|
rs756135168
|
|
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=)
|
rs61754264
|
|
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)
|
rs1844174531
|
|
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)
|
rs1590204913
|
|
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met)
|
rs931528592
|
|
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=)
|
rs150698224
|
|
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)
|
rs202092158
|
|
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)
|
rs766331452
|
|
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)
|
rs1844105842
|
|
NM_000176.3(NR3C1):c.1066C>A (p.Pro356Thr)
|
|
|
NM_000176.3(NR3C1):c.1115A>G (p.Asp372Gly)
|
|
|
NM_000176.3(NR3C1):c.116T>C (p.Val39Ala)
|
|
|
NM_000176.3(NR3C1):c.1205T>G (p.Val402Gly)
|
|
|
NM_000176.3(NR3C1):c.1237A>G (p.Thr413Ala)
|
|
|
NM_000176.3(NR3C1):c.127G>C (p.Ala43Pro)
|
|
|
NM_000176.3(NR3C1):c.1351+19_1351+20del
|
|
|
NM_000176.3(NR3C1):c.137C>T (p.Pro46Leu)
|
|
|
NM_000176.3(NR3C1):c.1405C>T (p.Arg469Ter)
|
|
|
NM_000176.3(NR3C1):c.1450G>T (p.Ala484Ser)
|
|
|
NM_000176.3(NR3C1):c.1474A>G (p.Lys492Glu)
|
|
|
NM_000176.3(NR3C1):c.1488A>T (p.Lys496Asn)
|
|
|
NM_000176.3(NR3C1):c.1520T>C (p.Val507Ala)
|
|
|
NM_000176.3(NR3C1):c.1560A>G (p.Ile520Met)
|
|
|
NM_000176.3(NR3C1):c.158A>C (p.Gln53Pro)
|
|
|
NM_000176.3(NR3C1):c.1596G>C (p.Leu532=)
|
|
|
NM_000176.3(NR3C1):c.1611G>A (p.Glu537=)
|
|
|
NM_000176.3(NR3C1):c.1685C>T (p.Thr562Met)
|
|
|
NM_000176.3(NR3C1):c.1776A>G (p.Gln592=)
|
|
|
NM_000176.3(NR3C1):c.1783C>T (p.Leu595=)
|
|
|
NM_000176.3(NR3C1):c.1835del (p.Ser612fs)
|
|
|
NM_000176.3(NR3C1):c.1882A>G (p.Ile628Val)
|
|
|
NM_000176.3(NR3C1):c.192T>G (p.Asp64Glu)
|
|
|
NM_000176.3(NR3C1):c.2032G>T (p.Asp678Tyr)
|
|
|
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser)
|
rs104893914
|
|
NM_000176.3(NR3C1):c.2059G>C (p.Asp687His)
|
|
|
NM_000176.3(NR3C1):c.208G>C (p.Val70Leu)
|
|
|
NM_000176.3(NR3C1):c.2098G>A (p.Ala700Thr)
|
|
|
NM_000176.3(NR3C1):c.2159A>G (p.Lys720Arg)
|
|
|
NM_000176.3(NR3C1):c.2181+3A>G
|
|
|
NM_000176.3(NR3C1):c.2185G>A (p.Val729Ile)
|
|
|
NM_000176.3(NR3C1):c.2186T>C (p.Val729Ala)
|
|
|
NM_000176.3(NR3C1):c.222G>T (p.Gln74His)
|
|
|
NM_000176.3(NR3C1):c.2231C>G (p.Thr744Ser)
|
|
|
NM_000176.3(NR3C1):c.2273C>T (p.Thr758Ile)
|
|
|
NM_000176.3(NR3C1):c.236C>T (p.Ser79Phe)
|
|
|
NM_000176.3(NR3C1):c.266A>G (p.Tyr89Cys)
|
|
|
NM_000176.3(NR3C1):c.292A>G (p.Met98Val)
|
|
|
NM_000176.3(NR3C1):c.326A>G (p.Gln109Arg)
|
|
|
NM_000176.3(NR3C1):c.335T>G (p.Leu112Arg)
|
|
|
NM_000176.3(NR3C1):c.338C>T (p.Ser113Phe)
|
|
|
NM_000176.3(NR3C1):c.352G>A (p.Asp118Asn)
|
|
|
NM_000176.3(NR3C1):c.373A>C (p.Ser125Arg)
|
|
|
NM_000176.3(NR3C1):c.420G>T (p.Lys140Asn)
|
|
|
NM_000176.3(NR3C1):c.454A>C (p.Thr152Pro)
|
|
|
NM_000176.3(NR3C1):c.487G>A (p.Val163Ile)
|
|
|
NM_000176.3(NR3C1):c.514G>A (p.Gly172Ser)
|
|
|
NM_000176.3(NR3C1):c.520A>G (p.Thr174Ala)
|
|
|
NM_000176.3(NR3C1):c.530A>G (p.Asn177Ser)
|
|
|
NM_000176.3(NR3C1):c.556A>G (p.Thr186Ala)
|
|
|
NM_000176.3(NR3C1):c.598T>G (p.Ser200Ala)
|
|
|
NM_000176.3(NR3C1):c.639G>C (p.Trp213Cys)
|
|
|
NM_000176.3(NR3C1):c.652T>G (p.Leu218Val)
|
|
|
NM_000176.3(NR3C1):c.678_679delinsA (p.Pro227fs)
|
|
|
NM_000176.3(NR3C1):c.686C>G (p.Ala229Gly)
|
|
|
NM_000176.3(NR3C1):c.694G>A (p.Asp232Asn)
|
|
|
NM_000176.3(NR3C1):c.694G>T (p.Asp232Tyr)
|
|
|
NM_000176.3(NR3C1):c.771T>G (p.Ile257Met)
|
|
|
NM_000176.3(NR3C1):c.775G>A (p.Asp259Asn)
|
|
|
NM_000176.3(NR3C1):c.782G>A (p.Gly261Glu)
|
|
|
NM_000176.3(NR3C1):c.794T>C (p.Leu265Ser)
|
|
|
NM_000176.3(NR3C1):c.869_870delinsTT (p.Gly290Val)
|
|
|
NM_000176.3(NR3C1):c.87C>G (p.Phe29Leu)
|
|
|
NM_000176.3(NR3C1):c.89A>G (p.Tyr30Cys)
|
|
|
NM_000176.3(NR3C1):c.968G>T (p.Gly323Val)
|
|
|
NM_000176.3(NR3C1):c.992T>G (p.Met331Arg)
|
|
|
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=)
|
rs116342586
|
|
NM_000198.4(HSD3B2):c.1019del (p.Lys340fs)
|
|
|
NM_000198.4(HSD3B2):c.1042G>A (p.Ala348Thr)
|
|
|
NM_000198.4(HSD3B2):c.1048C>T (p.Gln350Ter)
|
|
|
NM_000198.4(HSD3B2):c.1057G>A (p.Val353Met)
|
|
|
NM_000198.4(HSD3B2):c.1088A>G (p.His363Arg)
|
|
|
NM_000198.4(HSD3B2):c.1117T>C (p.Ter373Arg)
|
|
|
NM_000198.4(HSD3B2):c.127A>G (p.Arg43Gly)
|
|
|
NM_000198.4(HSD3B2):c.131_132del (p.Glu44fs)
|
|
|
NM_000198.4(HSD3B2):c.132G>T (p.Glu44Asp)
|
|
|
NM_000198.4(HSD3B2):c.142+11T>G
|
|
|
NM_000198.4(HSD3B2):c.143-13T>G
|
|
|
NM_000198.4(HSD3B2):c.223G>C (p.Val75Leu)
|
|
|
NM_000198.4(HSD3B2):c.232G>A (p.Val78Ile)
|
|
|
NM_000198.4(HSD3B2):c.266G>T (p.Gly89Val)
|
|
|
NM_000198.4(HSD3B2):c.308-1G>C
|
|
|
NM_000198.4(HSD3B2):c.328G>A (p.Ala110Thr)
|
|
|
NM_000198.4(HSD3B2):c.360C>T (p.Ile120=)
|
|
|
NM_000198.4(HSD3B2):c.373A>G (p.Ile125Val)
|
|
|
NM_000198.4(HSD3B2):c.406del (p.Ile136fs)
|
|
|
NM_000198.4(HSD3B2):c.418G>A (p.Gly140Ser)
|
|
|
NM_000198.4(HSD3B2):c.424G>T (p.Glu142Ter)
|
|
|
NM_000198.4(HSD3B2):c.434C>T (p.Pro145Leu)
|
|
|
NM_000198.4(HSD3B2):c.454A>G (p.Thr152Ala)
|
|
|
NM_000198.4(HSD3B2):c.466T>C (p.Tyr156His)
|
|
|
NM_000198.4(HSD3B2):c.491C>T (p.Ala164Val)
|
|
|
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)
|
rs80358216
|
|
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)
|
rs757957605
|
|
NM_000198.4(HSD3B2):c.55G>A (p.Val19Ile)
|
|
|
NM_000198.4(HSD3B2):c.571G>C (p.Gly191Arg)
|
|
|
NM_000198.4(HSD3B2):c.574G>T (p.Glu192Ter)
|
|
|
NM_000198.4(HSD3B2):c.58C>T (p.Arg20Cys)
|
|
|
NM_000198.4(HSD3B2):c.607G>T (p.Glu203Ter)
|
|
|
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)
|
rs1040579140
|
|
NM_000198.4(HSD3B2):c.638G>C (p.Ser213Thr)
|
|
|
NM_000198.4(HSD3B2):c.671A>G (p.Tyr224Cys)
|
|
|
NM_000198.4(HSD3B2):c.674T>C (p.Val225Ala)
|
|
|
NM_000198.4(HSD3B2):c.718C>T (p.Arg240Trp)
|
|
|
NM_000198.4(HSD3B2):c.719G>A (p.Arg240Gln)
|
|
|
NM_000198.4(HSD3B2):c.722A>G (p.Asp241Gly)
|
|
|
NM_000198.4(HSD3B2):c.749G>T (p.Gly250Val)
|
|
|
NM_000198.4(HSD3B2):c.757T>A (p.Tyr253Asn)
|
|
|
NM_000198.4(HSD3B2):c.792_796del (p.Tyr264_Asn266delinsTer)
|
rs2101350289
|
|
NM_000198.4(HSD3B2):c.898G>A (p.Val300Met)
|
|
|
NM_000198.4(HSD3B2):c.903C>A (p.Ser301Arg)
|
|
|
NM_000198.4(HSD3B2):c.934C>T (p.Pro312Ser)
|
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
NM_000349.3(STAR):c.136A>G (p.Ser46Gly)
|
|
|
NM_000349.3(STAR):c.144G>A (p.Trp48Ter)
|
rs749415045
|
|
NM_000349.3(STAR):c.147_164dup (p.Arg55_Ser56insAsnGlnValArgArgArg)
|
|
|
NM_000349.3(STAR):c.150C>A (p.Asn50Lys)
|
|
|
NM_000349.3(STAR):c.157C>G (p.Arg53Gly)
|
rs550388651
|
|
NM_000349.3(STAR):c.158G>C (p.Arg53Pro)
|
rs529036391
|
|
NM_000349.3(STAR):c.158G>T (p.Arg53Leu)
|
rs529036391
|
|
NM_000349.3(STAR):c.159_160delinsTT (p.Arg54Trp)
|
|
|
NM_000349.3(STAR):c.160C>T (p.Arg54Trp)
|
|
|
NM_000349.3(STAR):c.164G>A (p.Arg55Gln)
|
|
|
NM_000349.3(STAR):c.178+1G>C
|
rs1554503011
|
|
NM_000349.3(STAR):c.178G>A (p.Gly60Ser)
|
|
|
NM_000349.3(STAR):c.184C>T (p.Arg62Trp)
|
|
|
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)
|
rs1563268652
|
|
NM_000349.3(STAR):c.280G>A (p.Glu94Lys)
|
|
|
NM_000349.3(STAR):c.281A>G (p.Glu94Gly)
|
|
|
NM_000349.3(STAR):c.288G>A (p.Trp96Ter)
|
|
|
NM_000349.3(STAR):c.298_299del (p.Gln101fs)
|
rs765904696
|
|
NM_000349.3(STAR):c.314G>A (p.Gly105Glu)
|
|
|
NM_000349.3(STAR):c.328A>C (p.Ser110Arg)
|
|
|
NM_000349.3(STAR):c.347_366del (p.Val116fs)
|
|
|
NM_000349.3(STAR):c.362G>T (p.Arg121Leu)
|
|
|
NM_000349.3(STAR):c.407del (p.Glu136fs)
|
|
|
NM_000349.3(STAR):c.466-11T>C
|
rs1053284504
|
|
NM_000349.3(STAR):c.494T>G (p.Phe165Cys)
|
|
|
NM_000349.3(STAR):c.504C>A (p.His168Gln)
|
|
|
NM_000349.3(STAR):c.50T>C (p.Met17Thr)
|
|
|
NM_000349.3(STAR):c.517G>A (p.Glu173Lys)
|
|
|
NM_000349.3(STAR):c.532C>G (p.Leu178Val)
|
|
|
NM_000349.3(STAR):c.539G>T (p.Gly180Val)
|
|
|
NM_000349.3(STAR):c.544C>A (p.Arg182Ser)
|
|
|
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)
|
rs369232492
|
|
NM_000349.3(STAR):c.545G>A (p.Arg182His)
|
rs104894086
|
|
NM_000349.3(STAR):c.551_552del (p.Phe184fs)
|
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
NM_000349.3(STAR):c.578G>A (p.Arg193Gln)
|
|
|
NM_000349.3(STAR):c.593T>C (p.Val198Ala)
|
|
|
NM_000349.3(STAR):c.5_11del (p.Leu2fs)
|
|
|
NM_000349.3(STAR):c.63G>C (p.Lys21Asn)
|
|
|
NM_000349.3(STAR):c.64+1G>A
|
rs765968701
|
|
NM_000349.3(STAR):c.651-2A>G
|
|
|
NM_000349.3(STAR):c.652G>A (p.Ala218Thr)
|
|
|
NM_000349.3(STAR):c.677T>C (p.Val226Ala)
|
|
|
NM_000349.3(STAR):c.694G>A (p.Gly232Arg)
|
|
|
NM_000349.3(STAR):c.720G>C (p.Thr240=)
|
rs768179486
|
|
NM_000349.3(STAR):c.744+1G>A
|
|
|
NM_000349.3(STAR):c.745-1_757del
|
rs1554502668
|
|
NM_000349.3(STAR):c.762C>T (p.Ser254=)
|
|
|
NM_000349.3(STAR):c.763A>G (p.Ile255Val)
|
|
|
NM_000349.3(STAR):c.769A>T (p.Asn257Tyr)
|
|
|
NM_000349.3(STAR):c.811del (p.Leu271fs)
|
rs1350908961
|
|
NM_000349.3(STAR):c.848C>T (p.Ala283Val)
|
|
|
NM_000497.4(CYP11B1):c.-10G>A
|
|
|
NM_000497.4(CYP11B1):c.1004A>G (p.Asn335Ser)
|
|
|
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)
|
rs193922535
|
|
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)
|
|
|
NM_000497.4(CYP11B1):c.1021C>T (p.Arg341Cys)
|
|
|
NM_000497.4(CYP11B1):c.1022G>A (p.Arg341His)
|
|
|
NM_000497.4(CYP11B1):c.1046C>T (p.Ala349Val)
|
|
|
NM_000497.4(CYP11B1):c.1064C>T (p.Pro355Leu)
|
|
|
NM_000497.4(CYP11B1):c.106C>G (p.Leu36Val)
|
|
|
NM_000497.4(CYP11B1):c.109C>T (p.Pro37Ser)
|
|
|
NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys)
|
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
NM_000497.4(CYP11B1):c.1121+1G>A
|
|
|
NM_000497.4(CYP11B1):c.1121G>C (p.Arg374Pro)
|
|
|
NM_000497.4(CYP11B1):c.1123C>T (p.Leu375Phe)
|
|
|
NM_000497.4(CYP11B1):c.112T>A (p.Phe38Ile)
|
|
|
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)
|
rs758714890
|
|
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)
|
rs1256580853
|
|
NM_000497.4(CYP11B1):c.1192C>A (p.Pro398Thr)
|
|
|
NM_000497.4(CYP11B1):c.1195G>C (p.Ala399Pro)
|
|
|
NM_000497.4(CYP11B1):c.1200+6_1200+9del
|
|
|
NM_000497.4(CYP11B1):c.1201-4G>C
|
|
|
NM_000497.4(CYP11B1):c.1201A>G (p.Thr401Ala)
|
|
|
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser)
|
rs886062738
|
|
NM_000497.4(CYP11B1):c.1209_1215delinsACAGGTT (p.Arg404Gln)
|
|
|
NM_000497.4(CYP11B1):c.1211G>A (p.Arg404His)
|
|
|
NM_000497.4(CYP11B1):c.1212C>T (p.Arg404=)
|
|
|
NM_000497.4(CYP11B1):c.1213G>A (p.Val405Met)
|
|
|
NM_000497.4(CYP11B1):c.1243G>A (p.Ala415Thr)
|
|
|
NM_000497.4(CYP11B1):c.1244C>A (p.Ala415Asp)
|
|
|
NM_000497.4(CYP11B1):c.1247T>C (p.Leu416Ser)
|
|
|
NM_000497.4(CYP11B1):c.1265G>T (p.Arg422Leu)
|
|
|
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)
|
rs4998902
|
|
NM_000497.4(CYP11B1):c.1279C>A (p.Arg427Ser)
|
|
|
NM_000497.4(CYP11B1):c.127C>T (p.Arg43Trp)
|
|
|
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)
|
rs754432887
|
|
NM_000497.4(CYP11B1):c.1291A>T (p.Ile431Phe)
|
|
|
NM_000497.4(CYP11B1):c.1298G>A (p.Gly433Asp)
|
|
|
NM_000497.4(CYP11B1):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000497.4(CYP11B1):c.1321G>A (p.Val441Met)
|
|
|
NM_000497.4(CYP11B1):c.1321G>T (p.Val441Leu)
|
|
|
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)
|
rs1447069098
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1361G>C (p.Arg454Pro)
|
|
|
NM_000497.4(CYP11B1):c.1379TGC[4] (p.Leu464del)
|
|
|
NM_000497.4(CYP11B1):c.1397A>T (p.His466Leu)
|
|
|
NM_000497.4(CYP11B1):c.1398+4A>G
|
rs1586557065
|
|
NM_000497.4(CYP11B1):c.1398+6C>G
|
|
|
NM_000497.4(CYP11B1):c.1429A>C (p.Thr477Pro)
|
|
|
NM_000497.4(CYP11B1):c.1477A>G (p.Met493Val)
|
|
|
NM_000497.4(CYP11B1):c.16A>C (p.Lys6Gln)
|
|
|
NM_000497.4(CYP11B1):c.172G>A (p.Glu58Lys)
|
|
|
NM_000497.4(CYP11B1):c.181T>C (p.Tyr61His)
|
|
|
NM_000497.4(CYP11B1):c.215T>A (p.Phe72Tyr)
|
|
|
NM_000497.4(CYP11B1):c.256G>C (p.Ala86Pro)
|
|
|
NM_000497.4(CYP11B1):c.259G>C (p.Gly87Arg)
|
|
|
NM_000497.4(CYP11B1):c.260G>A (p.Gly87Asp)
|
|
|
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala)
|
rs1554653718
|
|
NM_000497.4(CYP11B1):c.274A>C (p.Met92Leu)
|
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
NM_000497.4(CYP11B1):c.28T>C (p.Cys10Arg)
|
|
|
NM_000497.4(CYP11B1):c.28T>G (p.Cys10Gly)
|
|
|
NM_000497.4(CYP11B1):c.30C>A (p.Cys10Ter)
|
|
|
NM_000497.4(CYP11B1):c.315C>A (p.Ser105Arg)
|
|
|
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)
|
rs764418169
|
|
NM_000497.4(CYP11B1):c.326A>T (p.His109Leu)
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NM_000497.4(CYP11B1):c.357del (p.Ala118_Tyr119insTer)
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NM_000497.4(CYP11B1):c.367C>T (p.Arg123Cys)
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NM_000497.4(CYP11B1):c.371G>A (p.Gly124Glu)
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NM_000497.4(CYP11B1):c.384C>T (p.Gly128=)
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NM_000497.4(CYP11B1):c.385G>A (p.Val129Met)
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rs377423817
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NM_000497.4(CYP11B1):c.385G>C (p.Val129Leu)
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NM_000497.4(CYP11B1):c.395+1G>A
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NM_000497.4(CYP11B1):c.395T>G (p.Leu132Arg)
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NM_000497.4(CYP11B1):c.396-1G>A
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NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys)
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NM_000497.4(CYP11B1):c.43T>C (p.Trp15Arg)
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NM_000497.4(CYP11B1):c.441A>T (p.Glu147Asp)
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NM_000497.4(CYP11B1):c.480G>A (p.Met160Ile)
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NM_000497.4(CYP11B1):c.496A>G (p.Arg166Gly)
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NM_000497.4(CYP11B1):c.512C>A (p.Ala171Asp)
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NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)
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rs535861895
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NM_000497.4(CYP11B1):c.542G>A (p.Arg181Gln)
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NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)
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rs146105017
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NM_000497.4(CYP11B1):c.546_552del (p.Ser183fs)
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rs1816980417
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NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
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rs763195324
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NM_000497.4(CYP11B1):c.572G>A (p.Ser191Asn)
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NM_000497.4(CYP11B1):c.581A>G (p.His194Arg)
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NM_000497.4(CYP11B1):c.590T>C (p.Ile197Thr)
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NM_000497.4(CYP11B1):c.595+16G>T
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rs1365173817
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NM_000497.4(CYP11B1):c.645C>T (p.Ser215=)
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rs199525592
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NM_000497.4(CYP11B1):c.647C>T (p.Pro216Leu)
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NM_000497.4(CYP11B1):c.674A>G (p.His225Arg)
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NM_000497.4(CYP11B1):c.697T>A (p.Ser233Thr)
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NM_000497.4(CYP11B1):c.703G>A (p.Val235Ile)
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NM_000497.4(CYP11B1):c.706C>T (p.Gln236Ter)
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NM_000497.4(CYP11B1):c.718A>G (p.Met240Val)
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NM_000497.4(CYP11B1):c.726del (p.Ser243fs)
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rs1327055239
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NM_000497.4(CYP11B1):c.746G>C (p.Ser249Thr)
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NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter)
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rs1554652999
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NM_000497.4(CYP11B1):c.787A>G (p.Ile263Val)
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NM_000497.4(CYP11B1):c.799+17G>A
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rs61751156
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NM_000497.4(CYP11B1):c.803A>T (p.Asp268Val)
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NM_000497.4(CYP11B1):c.876G>T (p.Glu292Asp)
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NM_000497.4(CYP11B1):c.881T>G (p.Leu294Arg)
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NM_000497.4(CYP11B1):c.888T>G (p.Asn296Lys)
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NM_000497.4(CYP11B1):c.892G>C (p.Glu298Gln)
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NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)
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rs202091168
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NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp)
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NM_000497.4(CYP11B1):c.931C>T (p.Leu311Phe)
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NM_000497.4(CYP11B1):c.943A>C (p.Ser315Arg)
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NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)
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rs104894061
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NM_000497.4(CYP11B1):c.954G>T (p.Thr318=)
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NM_000497.4(CYP11B1):c.955-3C>A
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NM_000497.4(CYP11B1):c.981_984del (p.Phe328fs)
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NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)
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rs1326688256
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NM_000497.4(CYP11B1):c.994C>T (p.Arg332Trp)
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NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
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rs202242769
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NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
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rs72552757
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NM_000500.9(CYP21A2):c.293-13C>G
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rs6467
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NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
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rs6471
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NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
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rs267606756
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NM_001395413.1(POR):c.115del (p.Thr39fs)
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NM_001395413.1(POR):c.1240-2A>G
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NM_001395413.1(POR):c.1320dup (p.Ile441fs)
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rs786205875
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NM_001395413.1(POR):c.1347del (p.Arg450fs)
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NM_001395413.1(POR):c.1361G>T (p.Arg454Leu)
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NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
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NM_001395413.1(POR):c.1497_1501delinsGCC (p.Ala500fs)
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NM_001395413.1(POR):c.1523_1542del (p.Leu508fs)
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NM_001395413.1(POR):c.1577C>T (p.Thr526Met)
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rs782248163
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NM_001395413.1(POR):c.1617del (p.Phe540fs)
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NM_001395413.1(POR):c.1685T>C (p.Leu562Pro)
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NM_001395413.1(POR):c.1718dup (p.Tyr573Ter)
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NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg)
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rs786205876
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NM_001395413.1(POR):c.191_192del (p.Val64fs)
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NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
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NM_001395413.1(POR):c.671G>A (p.Trp224Ter)
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NM_001395413.1(POR):c.723-1G>T
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NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)
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NM_001395413.1(POR):c.768del (p.Lys257fs)
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NM_001395413.1(POR):c.808dup (p.Glu270fs)
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NM_001395413.1(POR):c.821+1G>A
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NM_001395413.1(POR):c.880C>T (p.Gln294Ter)
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NM_004285.4(H6PD):c.1012G>A (p.Ala338Thr)
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NM_004285.4(H6PD):c.857C>T (p.Ala286Val)
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