NM_000349.3(STAR):c.465+20A>G
|
rs2720050
|
0.97715
|
NM_015665.6(AAAS):c.1088-59A>G
|
rs4759287
|
0.96514
|
NM_013335.4(GMPPA):c.1162+37T>A
|
rs10932808
|
0.95585
|
NM_015665.6(AAAS):c.251+59A>C
|
rs4759232
|
0.94301
|
NM_015665.6(AAAS):c.689+71C>G
|
rs7953255
|
0.93983
|
NM_015665.6(AAAS):c.252-142C>A
|
rs7960963
|
0.93441
|
NM_015665.6(AAAS):c.124-33A>C
|
rs7298879
|
0.92298
|
NM_015665.6(AAAS):c.124-20T>C
|
rs4759231
|
0.92286
|
NM_015665.6(AAAS):c.855C>T (p.Phe285=)
|
rs1546808
|
0.91562
|
NM_001395413.1(POR):c.1446T>C (p.Ala482=)
|
rs2228104
|
0.86727
|
NM_001395413.1(POR):c.1058-13C>G
|
rs4732516
|
0.84641
|
NM_000500.9(CYP21A2):c.118C>T (p.Leu40=)
|
rs6468
|
0.82940
|
NM_006440.5(TXNRD2):c.1109T>C (p.Ile370Thr)
|
rs1139793
|
0.77627
|
NM_000500.9(CYP21A2):c.292+9C>T
|
rs6462
|
0.71669
|
NM_000349.3(STAR):c.*1524A>G
|
rs3990403
|
0.70953
|
NM_000500.9(CYP21A2):c.138C>A (p.Pro46=)
|
rs6464
|
0.70511
|
NM_000497.4(CYP11B1):c.*471A>C
|
rs12543598
|
0.67053
|
NM_000497.4(CYP11B1):c.*694T>C
|
rs5303
|
0.65382
|
NM_182977.3(NNT):c.46C>T (p.Leu16=)
|
rs10057103
|
0.64407
|
NM_000497.4(CYP11B1):c.*1852T>G
|
rs4736312
|
0.61613
|
NM_000497.4(CYP11B1):c.*1566G>T
|
rs1134096
|
0.60736
|
NM_000497.4(CYP11B1):c.*318A>G
|
rs5299
|
0.60710
|
NM_000497.4(CYP11B1):c.*1499C>T
|
rs1134095
|
0.60702
|
NM_000497.4(CYP11B1):c.*738G>A
|
rs5304
|
0.60698
|
NM_000497.4(CYP11B1):c.*1042A>G
|
rs7003319
|
0.60695
|
NM_000497.4(CYP11B1):c.800-45C>T
|
rs7822986
|
0.59689
|
NM_000529.2(MC2R):c.*1099A>T
|
rs3888305
|
0.57649
|
NM_000529.2(MC2R):c.*685G>A
|
rs4308014
|
0.56358
|
NM_000529.2(MC2R):c.*58G>A
|
rs4797825
|
0.56131
|
NM_000529.2(MC2R):c.*2394C>G
|
rs1940907
|
0.55774
|
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=)
|
rs6410
|
0.52490
|
NM_182977.3(NNT):c.152-26_152-25insA
|
rs139409541
|
0.51050
|
NM_006440.5(TXNRD2):c.177C>T (p.Ala59=)
|
rs5748470
|
0.50192
|
NM_000497.4(CYP11B1):c.*516A>G
|
rs5301
|
0.49013
|
NM_000941.2(POR):c.-47A>C
|
rs3823884
|
0.44962
|
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=)
|
rs6163
|
0.40112
|
NM_000102.4(CYP17A1):c.138C>T (p.His46=)
|
rs6162
|
0.40089
|
NM_000529.2(MC2R):c.*615C>T
|
rs4464147
|
0.37506
|
NM_006440.5(TXNRD2):c.196G>T (p.Ala66Ser)
|
rs5748469
|
0.35646
|
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=)
|
rs5283
|
0.33818
|
NM_000475.5(NR0B1):c.498G>A (p.Arg166=)
|
rs2269345
|
0.28771
|
NM_001395413.1(POR):c.1707G>A (p.Ser569=)
|
rs1057870
|
0.28425
|
NM_000529.2(MC2R):c.*111G>A
|
rs4797824
|
0.28031
|
NM_001395413.1(POR):c.1239+12C>T
|
rs2286822
|
0.27856
|
NM_000500.9(CYP21A2):c.447+38C>T
|
rs6466
|
0.27535
|
NM_001395413.1(POR):c.1239+20G>A
|
rs2286823
|
0.27178
|
NM_001395413.1(POR):c.1499C>T (p.Ala500Val)
|
rs1057868
|
0.26722
|
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys)
|
rs6474
|
0.25928
|
NM_001395413.1(POR):c.822-35C>T
|
rs41301394
|
0.25679
|
NM_006440.5(TXNRD2):c.1086+17G>A
|
rs2239893
|
0.25106
|
NM_000102.4(CYP17A1):c.436+105A>C
|
rs743575
|
0.24877
|
NM_000102.4(CYP17A1):c.1243+113A>T
|
rs10883783
|
0.24865
|
NM_182977.3(NNT):c.-26T>C
|
rs12187908
|
0.23678
|
NM_000198.4(HSD3B2):c.*276C>T
|
rs1819698
|
0.22355
|
NM_000102.4(CYP17A1):c.1139+19T>G
|
rs4919686
|
0.21485
|
NM_001395413.1(POR):c.378A>G (p.Pro126=)
|
rs1135612
|
0.20982
|
NM_014825.3(URB1):c.*2814T>C
|
rs2833761
|
0.20754
|
NM_000198.4(HSD3B2):c.*321C>G
|
rs1361530
|
0.19080
|
NM_000102.4(CYP17A1):c.1243+83C>A
|
rs284849
|
0.15759
|
NM_000475.5(NR0B1):c.114C>T (p.Cys38=)
|
rs6150
|
0.14452
|
NM_000497.4(CYP11B1):c.596-41C>T
|
rs113759408
|
0.14096
|
NM_000102.4(CYP17A1):c.666+35T>C
|
rs1004467
|
0.13602
|
NM_000497.4(CYP11B1):c.*132T>C
|
rs5297
|
0.13529
|
NM_000497.4(CYP11B1):c.*1288A>G
|
rs61752809
|
0.13519
|
NM_006440.5(TXNRD2):c.662+14G>A
|
rs9606176
|
0.13466
|
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)
|
rs6472
|
0.13352
|
NM_000529.2(MC2R):c.*998T>A
|
rs4797823
|
0.13235
|
NM_000497.4(CYP11B1):c.1399-14G>C
|
rs5295
|
0.12635
|
NM_000529.2(MC2R):c.*1896C>T
|
rs28926188
|
0.11947
|
NM_000497.4(CYP11B1):c.*1417G>A
|
rs61752812
|
0.11851
|
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=)
|
rs1046474
|
0.11761
|
NM_000529.2(MC2R):c.*2138G>T
|
rs3744819
|
0.10932
|
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=)
|
rs34570566
|
0.08763
|
NM_000529.2(MC2R):c.*1885T>C
|
rs3760536
|
0.07937
|
NM_001395413.1(POR):c.6A>G (p.Gly2=)
|
rs10262966
|
0.07713
|
NM_015665.6(AAAS):c.414T>C (p.Asp138=)
|
rs11540353
|
0.07449
|
NM_000497.4(CYP11B1):c.*923G>C
|
rs61752805
|
0.06064
|
NM_000529.2(MC2R):c.*996A>T
|
rs4996467
|
0.05839
|
NM_000497.4(CYP11B1):c.800-14C>T
|
rs4535
|
0.05537
|
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val)
|
rs4541
|
0.04552
|
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln)
|
rs4534
|
0.03864
|
NM_000497.4(CYP11B1):c.239+20T>A
|
rs6388
|
0.03859
|
NM_013335.4(GMPPA):c.1162+18C>T
|
rs111553864
|
0.03828
|
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=)
|
rs6403
|
0.03563
|
NM_000529.2(MC2R):c.*1000T>A
|
rs886053636
|
0.03268
|
NM_000529.2(MC2R):c.*880C>T
|
rs28926184
|
0.03103
|
NM_000349.3(STAR):c.*456C>T
|
rs35045158
|
0.02530
|
NM_000529.2(MC2R):c.833T>G (p.Phe278Cys)
|
rs28926182
|
0.02378
|
NM_000198.4(HSD3B2):c.*202A>G
|
rs9282704
|
0.02229
|
NM_000198.4(HSD3B2):c.*96C>G
|
rs9282703
|
0.02228
|
NM_013335.4(GMPPA):c.945G>A (p.Glu315=)
|
rs13428617
|
0.02201
|
NM_015665.6(AAAS):c.1557T>C (p.Thr519=)
|
rs112987708
|
0.02027
|
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)
|
rs61752769
|
0.02016
|
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=)
|
rs33926546
|
0.01994
|
NM_000529.2(MC2R):c.*1002T>A
|
rs761446119
|
0.01879
|
NM_000529.2(MC2R):c.*2426T>C
|
rs1940906
|
0.01815
|
NM_000500.9(CYP21A2):c.293-80G>A
|
rs79249676
|
0.01774
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_000529.2(MC2R):c.*1759C>A
|
rs35547931
|
0.01767
|
NM_000349.3(STAR):c.*987A>G
|
rs28361934
|
0.01708
|
NM_000497.4(CYP11B1):c.1122-20A>G
|
rs61752794
|
0.01661
|
NM_178817.4(MRAP):c.-130A>G
|
rs114474088
|
0.01635
|
NM_001379228.1(MRAP):c.234C>G (p.Cys78Trp)
|
rs79126334
|
0.01600
|
NM_000349.2(STAR):c.-172C>T
|
rs16887226
|
0.01566
|
NM_000529.2(MC2R):c.*1877A>G
|
rs28926187
|
0.01558
|
NM_001379228.1(MRAP):c.389C>T (p.Thr130Ile)
|
rs114530014
|
0.01515
|
NM_000349.3(STAR):c.153G>A (p.Gln51=)
|
rs72552290
|
0.01453
|
NM_000497.4(CYP11B1):c.*1871T>A
|
rs61752818
|
0.01316
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
NM_000500.9(CYP21A2):c.203-46C>T
|
rs6452
|
0.01305
|
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=)
|
rs5316
|
0.01232
|
NM_013335.4(GMPPA):c.213C>T (p.Ala71=)
|
rs41272703
|
0.01225
|
NM_001379228.1(MRAP):c.148G>A (p.Val50Met)
|
rs75858661
|
0.01215
|
NM_000497.4(CYP11B1):c.*1076C>T
|
rs61752806
|
0.01209
|
NM_000529.2(MC2R):c.*427G>A
|
rs150928586
|
0.01192
|
NM_000529.2(MC2R):c.*491A>G
|
rs28926183
|
0.01176
|
NM_000529.2(MC2R):c.*1144G>A
|
rs114107471
|
0.01117
|
NM_000529.2(MC2R):c.*1330A>G
|
rs76459561
|
0.01105
|
NM_000497.4(CYP11B1):c.*193A>T
|
rs61752798
|
0.01010
|
NM_182977.3(NNT):c.1098+17T>C
|
rs16873430
|
0.01000
|
NM_000529.2(MC2R):c.*2432A>C
|
rs187121326
|
0.00999
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_013335.4(GMPPA):c.40+15G>A
|
rs80239182
|
0.00978
|
NM_000497.4(CYP11B1):c.*1512G>A
|
rs61752814
|
0.00880
|
NM_000497.4(CYP11B1):c.*1258G>A
|
rs61752808
|
0.00878
|
NM_178817.4(MRAP):c.-20G>C
|
rs76147109
|
0.00867
|
NM_015665.6(AAAS):c.1515T>C (p.Pro505=)
|
rs35282133
|
0.00843
|
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)
|
rs34451260
|
0.00840
|
NM_015665.6(AAAS):c.-130C>T
|
rs149864679
|
0.00832
|
NM_001395413.1(POR):c.*207C>G
|
rs41302348
|
0.00808
|
NM_000529.2(MC2R):c.-44G>C
|
rs28926177
|
0.00804
|
NM_001379228.1(MRAP):c.132G>T (p.Val44=)
|
rs17855142
|
0.00790
|
NM_000497.4(CYP11B1):c.*468C>T
|
rs114832894
|
0.00774
|
NM_001395413.1(POR):c.*51C>T
|
rs41302345
|
0.00770
|
NM_000497.4(CYP11B1):c.239+13C>A
|
rs6402
|
0.00753
|
NM_000198.3(HSD3B2):c.-145G>A
|
rs35226381
|
0.00744
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
NM_013335.4(GMPPA):c.441G>A (p.Thr147=)
|
rs150386940
|
0.00726
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
NM_031925.3(TMEM120A):c.*305A>C
|
rs41302351
|
0.00710
|
NM_001395413.1(POR):c.78G>A (p.Thr26=)
|
rs41295381
|
0.00681
|
NM_000529.2(MC2R):c.-90T>C
|
rs35534963
|
0.00657
|
NM_000497.4(CYP11B1):c.*1138del
|
rs148110533
|
0.00599
|
NM_000529.2(MC2R):c.-94G>A
|
rs34426564
|
0.00590
|
NM_001395413.1(POR):c.1889+3G>A
|
rs41301439
|
0.00568
|
NM_000102.4(CYP17A1):c.-14G>A
|
rs17115125
|
0.00562
|
NM_000500.9(CYP21A2):c.1223-21C>T
|
rs755724055
|
0.00535
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_006440.5(TXNRD2):c.375-19T>G
|
rs147120537
|
0.00527
|
NM_006440.5(TXNRD2):c.529-6C>T
|
rs116054286
|
0.00525
|
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)
|
rs6476
|
0.00523
|
NM_000529.2(MC2R):c.*994A>T
|
rs4996466
|
0.00471
|
NM_001395413.1(POR):c.*240C>T
|
rs13921
|
0.00471
|
NM_001395413.1(POR):c.508-4G>A
|
rs41299496
|
0.00462
|
NM_000529.2(MC2R):c.*990A>T
|
rs993146709
|
0.00455
|
NM_001379228.1(MRAP):c.390C>G (p.Thr130=)
|
rs17855143
|
0.00448
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
NM_000529.2(MC2R):c.*578C>A
|
rs34482956
|
0.00404
|
NM_015665.6(AAAS):c.679T>C (p.Leu227=)
|
rs80027466
|
0.00392
|
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)
|
rs6207
|
0.00387
|
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn)
|
rs4986954
|
0.00385
|
NM_001395413.1(POR):c.508-14_508-13del
|
rs72557912
|
0.00363
|
NM_001395413.1(POR):c.1661-17C>T
|
rs10265262
|
0.00362
|
NM_001395413.1(POR):c.*63C>T
|
rs72557961
|
0.00342
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=)
|
rs5290
|
0.00338
|
NM_000529.2(MC2R):c.*1537A>G
|
rs34722656
|
0.00332
|
NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)
|
rs146215853
|
0.00322
|
NM_000349.3(STAR):c.*395G>A
|
rs115807877
|
0.00320
|
NM_000529.2(MC2R):c.*1004T>A
|
rs1313532679
|
0.00291
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_006440.5(TXNRD2):c.816C>T (p.Gly272=)
|
rs144584524
|
0.00266
|
NM_000349.3(STAR):c.*1122T>A
|
rs72556520
|
0.00254
|
NM_015665.6(AAAS):c.-73G>A
|
rs561616104
|
0.00252
|
NM_001128590.1(CYP21A2):c.-113G>A
|
rs1246774295
|
0.00251
|
NM_000349.3(STAR):c.433G>A (p.Gly145Arg)
|
rs80231229
|
0.00250
|
NM_000500.9(CYP21A2):c.447+39G>A
|
rs569670804
|
0.00249
|
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)
|
rs61752766
|
0.00248
|
NM_015665.5(AAAS):c.*32C>T
|
rs138994144
|
0.00246
|
NM_000529.2(MC2R):c.*117A>T
|
rs149746538
|
0.00237
|
NM_000529.2(MC2R):c.*582C>A
|
rs34861769
|
0.00237
|
NM_000497.4(CYP11B1):c.395+9C>T
|
rs61751140
|
0.00235
|
NM_000475.5(NR0B1):c.588G>A (p.Leu196=)
|
rs138855021
|
0.00231
|
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)
|
rs34873891
|
0.00230
|
NM_000349.3(STAR):c.*981A>G
|
rs188232971
|
0.00228
|
NM_000529.2(MC2R):c.*1452A>G
|
rs34158267
|
0.00225
|
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=)
|
rs61752765
|
0.00216
|
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
|
rs143240527
|
0.00204
|
NM_000349.3(STAR):c.*1472C>T
|
rs7833285
|
0.00203
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)
|
rs144029176
|
0.00193
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_000349.3(STAR):c.*116T>G
|
rs35462433
|
0.00179
|
NM_001395413.1(POR):c.1889+13G>T
|
rs72557956
|
0.00178
|
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His)
|
rs141368413
|
0.00177
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_001395413.1(POR):c.*60C>T
|
rs72557960
|
0.00173
|
NM_000941.2(POR):c.-33G>T
|
rs72553977
|
0.00172
|
NM_000349.3(STAR):c.*88G>C
|
rs112828857
|
0.00169
|
NM_000475.5(NR0B1):c.870C>T (p.Cys290=)
|
rs137987391
|
0.00168
|
NM_001395413.1(POR):c.-14G>C
|
rs886062438
|
0.00167
|
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=)
|
rs151335623
|
0.00158
|
NM_015665.6(AAAS):c.1249+8G>A
|
rs200834285
|
0.00155
|
NM_000198.4(HSD3B2):c.*397T>A
|
rs753468192
|
0.00153
|
NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu)
|
rs148092370
|
0.00150
|
NM_000500.9(CYP21A2):c.292+56T>G
|
rs543633765
|
0.00139
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_000529.2(MC2R):c.133G>A (p.Val45Ile)
|
rs148298654
|
0.00128
|
NM_000529.2(MC2R):c.429C>T (p.Thr143=)
|
rs138421793
|
0.00127
|
NM_000497.4(CYP11B1):c.*634G>A
|
rs1137481
|
0.00126
|
NM_000349.3(STAR):c.650+13G>T
|
rs377756089
|
0.00123
|
NM_000349.3(STAR):c.*230A>G
|
rs34575008
|
0.00120
|
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)
|
rs191365011
|
0.00118
|
NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr)
|
rs112693024
|
0.00118
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)
|
rs61751149
|
0.00112
|
NM_000349.3(STAR):c.466-5G>A
|
rs375678713
|
0.00111
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_000349.3(STAR):c.481G>A (p.Gly161Arg)
|
rs188044385
|
0.00103
|
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile)
|
rs34620645
|
0.00095
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)
|
rs61732108
|
0.00090
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_031925.3(TMEM120A):c.*319C>T
|
rs2286824
|
0.00088
|
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)
|
rs35486059
|
0.00087
|
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)
|
rs143758913
|
0.00087
|
NM_000529.2(MC2R):c.98C>T (p.Thr33Ile)
|
rs559032155
|
0.00087
|
NM_013335.4(GMPPA):c.489+16G>A
|
rs202131537
|
0.00085
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
NM_001379228.1(MRAP):c.508T>A (p.Leu170Met)
|
rs142897309
|
0.00083
|
NM_000529.2(MC2R):c.*2528T>G
|
rs150288954
|
0.00081
|
NM_000529.2(MC2R):c.*535G>C
|
rs139176501
|
0.00080
|
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_000349.3(STAR):c.*1557A>G
|
rs774615544
|
0.00074
|
NM_000529.2(MC2R):c.*992A>T
|
rs897474751
|
0.00074
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_000349.3(STAR):c.*880C>T
|
rs548810270
|
0.00067
|
NM_000529.2(MC2R):c.765G>A (p.Met255Ile)
|
rs181640454
|
0.00062
|
NM_001395413.1(POR):c.*76G>A
|
rs55909219
|
0.00062
|
NM_001395413.1(POR):c.675G>A (p.Pro225=)
|
rs72555510
|
0.00062
|
NM_013335.4(GMPPA):c.756-10C>T
|
rs368738474
|
0.00061
|
NM_000500.9(CYP21A2):c.292+37T>A
|
rs184177366
|
0.00058
|
NM_001395413.1(POR):c.1106C>T (p.Thr369Met)
|
rs367810540
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_000349.3(STAR):c.179-14G>A
|
rs117578796
|
0.00057
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_000349.3(STAR):c.*818G>A
|
rs558498679
|
0.00054
|
NM_000529.2(MC2R):c.*2065G>A
|
rs193046675
|
0.00053
|
NM_000102.4(CYP17A1):c.*65C>A
|
rs537220295
|
0.00051
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_001395413.1(POR):c.1516C>T (p.Arg506Cys)
|
rs374141883
|
0.00048
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
NM_013335.4(GMPPA):c.858T>C (p.Asn286=)
|
rs145760617
|
0.00047
|
NM_000475.5(NR0B1):c.222A>G (p.Pro74=)
|
rs1337374469
|
0.00046
|
NM_001395413.1(POR):c.1521G>A (p.Ala507=)
|
rs368697465
|
0.00046
|
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)
|
rs6407
|
0.00044
|
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
|
rs11540674
|
0.00044
|
NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn)
|
rs188765261
|
0.00044
|
NM_182977.3(NNT):c.1817T>C (p.Val606Ala)
|
rs139379760
|
0.00044
|
NM_000349.3(STAR):c.306+10G>A
|
rs200480072
|
0.00043
|
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
|
rs75429891
|
0.00042
|
NM_001395413.1(POR):c.898C>T (p.Leu300Phe)
|
rs201649877
|
0.00042
|
NM_182977.3(NNT):c.1424C>T (p.Thr475Met)
|
rs141791856
|
0.00042
|
NM_000102.3(CYP17A1):c.-166G>C
|
rs58519757
|
0.00041
|
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=)
|
rs114064941
|
0.00041
|
NM_000529.2(MC2R):c.795C>T (p.Ile265=)
|
rs141349908
|
0.00041
|
NM_001395413.1(POR):c.1227C>T (p.Ser409=)
|
rs41301424
|
0.00041
|
NM_000497.4(CYP11B1):c.*614C>T
|
rs772616356
|
0.00040
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)
|
rs112579822
|
0.00039
|
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr)
|
rs554966392
|
0.00038
|
NM_015665.6(AAAS):c.327G>T (p.Thr109=)
|
rs190876509
|
0.00038
|
NM_000102.4(CYP17A1):c.753+13G>A
|
rs201956379
|
0.00036
|
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=)
|
rs138811555
|
0.00036
|
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
|
rs201913959
|
0.00036
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser)
|
rs566921201
|
0.00035
|
NM_013335.4(GMPPA):c.366C>G (p.Pro122=)
|
rs186735505
|
0.00035
|
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=)
|
rs143211108
|
0.00034
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
NM_000349.3(STAR):c.*930C>T
|
rs915400542
|
0.00033
|
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)
|
rs104894658
|
0.00033
|
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)
|
rs370710427
|
0.00033
|
NM_000497.4(CYP11B1):c.*718T>G
|
rs189479208
|
0.00032
|
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)
|
rs146124466
|
0.00032
|
NM_000102.4(CYP17A1):c.298-11G>C
|
rs188885755
|
0.00031
|
NM_000349.3(STAR):c.-70G>T
|
rs370257148
|
0.00031
|
NM_013335.4(GMPPA):c.750C>T (p.Ser250=)
|
rs367640773
|
0.00031
|
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser)
|
rs144873582
|
0.00031
|
NM_015665.6(AAAS):c.63C>G (p.His21Gln)
|
rs200408293
|
0.00030
|
NM_000349.3(STAR):c.*1543C>A
|
rs748527738
|
0.00029
|
NM_000349.3(STAR):c.*187T>C
|
rs779430429
|
0.00029
|
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=)
|
rs148707144
|
0.00029
|
NM_001379228.1(MRAP):c.219G>A (p.Lys73=)
|
rs201238667
|
0.00029
|
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser)
|
rs567904247
|
0.00029
|
NM_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
0.00029
|
NM_013335.4(GMPPA):c.40+20G>A
|
rs373938536
|
0.00029
|
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)
|
rs138077680
|
0.00028
|
NM_015665.6(AAAS):c.1416+8C>T
|
rs370325323
|
0.00027
|
NM_001395413.1(POR):c.456C>T (p.Phe152=)
|
rs372672054
|
0.00026
|
NM_001395413.1(POR):c.508-20C>T
|
rs200924788
|
0.00026
|
NM_001395413.1(POR):c.522G>T (p.Gly174=)
|
rs72557913
|
0.00026
|
NM_000529.2(MC2R):c.537G>A (p.Thr179=)
|
rs137893541
|
0.00025
|
NM_000349.3(STAR):c.*1513C>G
|
rs963043269
|
0.00024
|
NM_000497.4(CYP11B1):c.*613A>G
|
rs1137480
|
0.00024
|
NM_001395413.1(POR):c.*179G>A
|
rs184275273
|
0.00024
|
NM_001395413.1(POR):c.*273T>C
|
rs782378740
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
NM_013335.4(GMPPA):c.40+13G>A
|
rs199872147
|
0.00024
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
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_000529.2(MC2R):c.*2323C>T
|
rs149107575
|
0.00023
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly)
|
rs925920723
|
0.00023
|
NM_013335.4(GMPPA):c.242+19G>A
|
rs201263031
|
0.00022
|
NM_013335.4(GMPPA):c.921C>T (p.Ile307=)
|
rs145170112
|
0.00022
|
NM_000529.2(MC2R):c.*1870A>G
|
rs142781228
|
0.00021
|
NM_001379228.1(MRAP):c.446A>G (p.Asn149Ser)
|
rs200448756
|
0.00021
|
NM_001395413.1(POR):c.*218C>T
|
rs539326245
|
0.00021
|
NM_001395413.1(POR):c.735C>T (p.Tyr245=)
|
rs201786397
|
0.00021
|
NM_013335.4(GMPPA):c.495G>A (p.Leu165=)
|
rs181901772
|
0.00020
|
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val)
|
rs193922536
|
0.00019
|
NM_000500.9(CYP21A2):c.651+30G>A
|
rs777741541
|
0.00019
|
NM_001395413.1(POR):c.*178C>T
|
rs535637875
|
0.00019
|
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)
|
rs200871966
|
0.00019
|
NM_015665.6(AAAS):c.996+12C>T
|
rs200312077
|
0.00019
|
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)
|
rs142037395
|
0.00018
|
NM_000349.3(STAR):c.*698C>A
|
rs558290486
|
0.00018
|
NM_000349.3(STAR):c.*699C>G
|
rs540152389
|
0.00018
|
NM_000941.2(POR):c.-80A>C
|
rs886062437
|
0.00018
|
NM_001379228.1(MRAP):c.271C>A (p.Gln91Lys)
|
rs376465589
|
0.00017
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
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_000497.4(CYP11B1):c.375C>G (p.His125Gln)
|
rs201137503
|
0.00016
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)
|
rs193922546
|
0.00016
|
NM_000529.2(MC2R):c.-129+10T>C
|
rs750975919
|
0.00016
|
NM_000529.2(MC2R):c.21G>A (p.Ser7=)
|
rs371151390
|
0.00016
|
NM_001395413.1(POR):c.1208G>A (p.Arg403His)
|
rs72557929
|
0.00016
|
NM_001395413.1(POR):c.1661-16G>A
|
rs377723544
|
0.00016
|
NM_001395413.1(POR):c.506C>T (p.Ala169Val)
|
rs374967948
|
0.00016
|
NM_001395413.1(POR):c.841C>A (p.Pro281Thr)
|
rs72557937
|
0.00016
|
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)
|
rs749057584
|
0.00016
|
NM_006440.5(TXNRD2):c.591+1G>C
|
rs200610775
|
0.00016
|
NM_000349.3(STAR):c.178+7G>A
|
rs376633284
|
0.00015
|
NM_000497.4(CYP11B1):c.*345C>A
|
rs368195405
|
0.00015
|
NM_000497.4(CYP11B1):c.*737C>T
|
rs748684062
|
0.00015
|
NM_000529.2(MC2R):c.435C>T (p.Arg145=)
|
rs369830440
|
0.00015
|
NM_001395413.1(POR):c.1776C>T (p.Asn592=)
|
rs782559723
|
0.00015
|
NM_001395413.1(POR):c.793C>T (p.Arg265Trp)
|
rs200471958
|
0.00015
|
NM_001395413.1(POR):c.822-18T>G
|
rs377191310
|
0.00015
|
NM_000198.4(HSD3B2):c.-106T>C
|
rs587688647
|
0.00014
|
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala)
|
rs200436490
|
0.00014
|
NM_000497.4(CYP11B1):c.*1264A>C
|
rs547356106
|
0.00014
|
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_001395413.1(POR):c.1255T>G (p.Trp419Gly)
|
rs536353066
|
0.00014
|
NM_001395413.1(POR):c.1700G>A (p.Arg567His)
|
rs372955296
|
0.00014
|
NM_001395413.1(POR):c.2009G>A (p.Arg670His)
|
rs376693603
|
0.00014
|
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp)
|
rs61736941
|
0.00014
|
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)
|
rs368094339
|
0.00014
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
NM_000497.4(CYP11B1):c.395+10G>A
|
rs768465089
|
0.00013
|
NM_001395413.1(POR):c.149A>T (p.Glu50Val)
|
rs376145249
|
0.00013
|
NM_001395413.1(POR):c.335C>T (p.Ala112Val)
|
rs199634961
|
0.00013
|
NM_001395413.1(POR):c.391G>A (p.Ala131Thr)
|
rs201365892
|
0.00013
|
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys)
|
rs770842444
|
0.00012
|
NM_000475.5(NR0B1):c.96G>C (p.Thr32=)
|
rs752999448
|
0.00012
|
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)
|
rs193922545
|
0.00012
|
NM_000529.2(MC2R):c.*366G>T
|
rs768500810
|
0.00012
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)
|
rs587675471
|
0.00011
|
NM_000349.2(STAR):c.-255G>T
|
rs567801443
|
0.00011
|
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)
|
rs761749382
|
0.00011
|
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala)
|
rs201951316
|
0.00011
|
NM_000529.2(MC2R):c.*673C>T
|
rs1039130161
|
0.00011
|
NM_000529.2(MC2R):c.377C>T (p.Ala126Val)
|
rs368669544
|
0.00011
|
NM_001395413.1(POR):c.1419G>A (p.Ala473=)
|
rs782722572
|
0.00011
|
NM_001395413.1(POR):c.1671G>C (p.Val557=)
|
rs782786537
|
0.00011
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
NM_001395413.1(POR):c.1867G>A (p.Gly623Ser)
|
rs369181144
|
0.00011
|
NM_001395413.1(POR):c.710G>A (p.Gly237Asp)
|
rs782746344
|
0.00011
|
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)
|
rs549821547
|
0.00011
|
NM_178817.4(MRAP):c.-67C>T
|
rs180872414
|
0.00011
|
NM_000349.3(STAR):c.815G>A (p.Arg272His)
|
rs540090187
|
0.00010
|
NM_000497.4(CYP11B1):c.*1209C>T
|
rs757505651
|
0.00010
|
NM_000500.9(CYP21A2):c.913G>A (p.Val305Met)
|
rs151344505
|
0.00010
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
NM_001395413.1(POR):c.1509C>T (p.Asn503=)
|
rs782397055
|
0.00010
|
NM_001395413.1(POR):c.150A>C (p.Glu50Asp)
|
rs370701548
|
0.00010
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
NM_013335.4(GMPPA):c.345T>C (p.Ala115=)
|
rs761791232
|
0.00010
|
NM_000102.4(CYP17A1):c.-15C>T
|
rs140012815
|
0.00009
|
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=)
|
rs145117545
|
0.00009
|
NM_000102.4(CYP17A1):c.108G>A (p.Leu36=)
|
rs112892739
|
0.00009
|
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile)
|
rs72559703
|
0.00009
|
NM_000198.4(HSD3B2):c.*46C>T
|
rs371081728
|
0.00009
|
NM_000349.3(STAR):c.*913C>T
|
rs551135472
|
0.00009
|
NM_000349.3(STAR):c.108C>T (p.Asn36=)
|
rs373945555
|
0.00009
|
NM_000349.3(STAR):c.759G>A (p.Lys253=)
|
rs146000965
|
0.00009
|
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)
|
rs776059398
|
0.00009
|
NM_000497.4(CYP11B1):c.*946G>A
|
rs1312537684
|
0.00009
|
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)
|
rs374517238
|
0.00009
|
NM_000529.2(MC2R):c.*1619G>A
|
rs570920789
|
0.00009
|
NM_000529.2(MC2R):c.*911A>C
|
rs886053643
|
0.00009
|
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)
|
rs80358231
|
0.00009
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn)
|
rs372930296
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001395413.1(POR):c.468G>A (p.Leu156=)
|
rs782013669
|
0.00009
|
NM_001395413.1(POR):c.571C>T (p.Arg191Trp)
|
rs782025961
|
0.00009
|
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys)
|
rs557142042
|
0.00009
|
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)
|
rs745438072
|
0.00009
|
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr)
|
rs151043830
|
0.00009
|
NM_015665.6(AAAS):c.843C>G (p.Pro281=)
|
rs145196232
|
0.00009
|
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)
|
rs201222065
|
0.00008
|
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=)
|
rs374769118
|
0.00008
|
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)
|
rs33932258
|
0.00008
|
NM_000349.3(STAR):c.*817C>T
|
rs886062901
|
0.00008
|
NM_000475.5(NR0B1):c.207C>T (p.Cys69=)
|
rs1274628114
|
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_001395413.1(POR):c.1085C>T (p.Pro362Leu)
|
rs373022822
|
0.00008
|
NM_001395413.1(POR):c.1115C>T (p.Thr372Ile)
|
rs782402961
|
0.00008
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
NM_001395413.1(POR):c.1974G>A (p.Ala658=)
|
rs367807239
|
0.00008
|
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr)
|
rs373839226
|
0.00008
|
NM_015665.6(AAAS):c.308T>C (p.Val103Ala)
|
rs201692749
|
0.00008
|
NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val)
|
rs587741317
|
0.00007
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
NM_000349.3(STAR):c.*897C>T
|
rs1216495200
|
0.00007
|
NM_000349.3(STAR):c.64+1G>T
|
rs765968701
|
0.00007
|
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)
|
rs5293
|
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_001395413.1(POR):c.1966G>A (p.Ala656Thr)
|
rs373737641
|
0.00007
|
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr)
|
rs752863555
|
0.00007
|
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)
|
rs745806762
|
0.00007
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_015665.6(AAAS):c.333C>T (p.Ser111=)
|
rs146770218
|
0.00007
|
NM_015665.6(AAAS):c.939C>T (p.Val313=)
|
rs79881935
|
0.00007
|
NM_000102.4(CYP17A1):c.-33G>A
|
rs754158354
|
0.00006
|
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=)
|
rs554217514
|
0.00006
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
NM_000198.4(HSD3B2):c.*121C>A
|
rs886045198
|
0.00006
|
NM_000198.4(HSD3B2):c.*177C>T
|
rs886045199
|
0.00006
|
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=)
|
rs745608432
|
0.00006
|
NM_000349.3(STAR):c.*93C>T
|
rs776003335
|
0.00006
|
NM_000349.3(STAR):c.738C>T (p.Asp246=)
|
rs758031518
|
0.00006
|
NM_000497.4(CYP11B1):c.*857T>C
|
rs370725779
|
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_000500.9(CYP21A2):c.448-50G>A
|
rs780875791
|
0.00006
|
NM_000529.2(MC2R):c.*1274T>A
|
rs886053623
|
0.00006
|
NM_000529.2(MC2R):c.*216G>A
|
rs184146485
|
0.00006
|
NM_000529.2(MC2R):c.*406C>A
|
rs553257738
|
0.00006
|
NM_000529.2(MC2R):c.808G>A (p.Val270Ile)
|
rs769721256
|
0.00006
|
NM_001379228.1(MRAP):c.486C>G (p.Pro162=)
|
rs146788457
|
0.00006
|
NM_001395413.1(POR):c.*33C>T
|
rs200310098
|
0.00006
|
NM_001395413.1(POR):c.1207C>T (p.Arg403Cys)
|
rs202243657
|
0.00006
|
NM_001395413.1(POR):c.1305G>A (p.Pro435=)
|
rs199937789
|
0.00006
|
NM_001395413.1(POR):c.1389+9C>T
|
rs781864218
|
0.00006
|
NM_001395413.1(POR):c.1465G>A (p.Val489Met)
|
rs377451454
|
0.00006
|
NM_001395413.1(POR):c.1750A>G (p.Arg584Gly)
|
rs781795917
|
0.00006
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_001395413.1(POR):c.1950C>T (p.Leu650=)
|
rs41301442
|
0.00006
|
NM_001395413.1(POR):c.229-5C>T
|
rs782035827
|
0.00006
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
NM_001395413.1(POR):c.45G>A (p.Ala15=)
|
rs782378313
|
0.00006
|
NM_001395413.1(POR):c.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
NM_001395413.1(POR):c.991G>A (p.Val331Ile)
|
rs562241770
|
0.00006
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
NM_013335.4(GMPPA):c.300C>T (p.Asp100=)
|
rs779526489
|
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.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
NM_000198.4(HSD3B2):c.143-7C>T
|
rs200483303
|
0.00005
|
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)
|
rs757033996
|
0.00005
|
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=)
|
rs587717286
|
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_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)
|
rs766116884
|
0.00005
|
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser)
|
rs776650491
|
0.00005
|
NM_000497.4(CYP11B1):c.*670A>C
|
rs879537131
|
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_000500.9(CYP21A2):c.939+5G>A
|
rs557564791
|
0.00005
|
NM_001379228.1(MRAP):c.106+15G>C
|
rs746170274
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_001395413.1(POR):c.137A>G (p.Lys46Arg)
|
rs782289780
|
0.00005
|
NM_001395413.1(POR):c.1444G>A (p.Ala482Thr)
|
rs72557947
|
0.00005
|
NM_001395413.1(POR):c.1603A>C (p.Thr535Pro)
|
rs782814705
|
0.00005
|
NM_001395413.1(POR):c.888C>T (p.Thr296=)
|
rs180683888
|
0.00005
|
NM_001395413.1(POR):c.990C>T (p.Leu330=)
|
rs376830846
|
0.00005
|
NM_006440.5(TXNRD2):c.1348-2A>G
|
rs768600057
|
0.00005
|
NM_013335.4(GMPPA):c.138+9_138+10del
|
rs757832477
|
0.00005
|
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp)
|
rs147832114
|
0.00005
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=)
|
rs779167465
|
0.00004
|
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=)
|
rs369081864
|
0.00004
|
NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln)
|
rs567775035
|
0.00004
|
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)
|
rs762479018
|
0.00004
|
NM_000349.3(STAR):c.*1473G>A
|
rs879150926
|
0.00004
|
NM_000349.3(STAR):c.*688C>T
|
rs1374700700
|
0.00004
|
NM_000349.3(STAR):c.178+9T>C
|
rs777624416
|
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_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
0.00004
|
NM_000497.4(CYP11B1):c.*1435T>C
|
rs551125657
|
0.00004
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
NM_000497.4(CYP11B1):c.1122-12C>T
|
rs193922537
|
0.00004
|
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)
|
rs576292844
|
0.00004
|
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)
|
rs373736765
|
0.00004
|
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg)
|
rs371662064
|
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_000497.4(CYP11B1):c.957G>A (p.Thr319=)
|
rs762599130
|
0.00004
|
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)
|
rs373579128
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_000500.9(CYP21A2):c.652-5C>T
|
rs758449746
|
0.00004
|
NM_000529.2(MC2R):c.*1039G>A
|
rs966371778
|
0.00004
|
NM_000529.2(MC2R):c.*2224A>C
|
rs551809146
|
0.00004
|
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln)
|
rs1208417750
|
0.00004
|
NM_001395413.1(POR):c.1020C>T (p.Ala340=)
|
rs72557942
|
0.00004
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
NM_001395413.1(POR):c.1418C>T (p.Ala473Val)
|
rs782156085
|
0.00004
|
NM_001395413.1(POR):c.1492G>A (p.Glu498Lys)
|
rs782697310
|
0.00004
|
NM_001395413.1(POR):c.1510G>A (p.Gly504Ser)
|
rs565343242
|
0.00004
|
NM_001395413.1(POR):c.1555C>T (p.Arg519Cys)
|
rs782533830
|
0.00004
|
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)
|
rs1320059073
|
0.00004
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
NM_001395413.1(POR):c.1693G>A (p.Gly565Ser)
|
rs779082897
|
0.00004
|
NM_001395413.1(POR):c.1702C>T (p.Arg568Cys)
|
rs782247167
|
0.00004
|
NM_001395413.1(POR):c.1939G>A (p.Val647Met)
|
rs148175064
|
0.00004
|
NM_001395413.1(POR):c.311G>A (p.Arg104His)
|
rs782776557
|
0.00004
|
NM_001395413.1(POR):c.34G>A (p.Val12Met)
|
rs369118442
|
0.00004
|
NM_001395413.1(POR):c.588C>T (p.Gly196=)
|
rs1489904713
|
0.00004
|
NM_001395413.1(POR):c.633-8C>T
|
rs782533498
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
NM_001395413.1(POR):c.861C>T (p.Thr287=)
|
rs782249427
|
0.00004
|
NM_001395413.1(POR):c.938+10G>A
|
rs781980999
|
0.00004
|
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg)
|
rs759298418
|
0.00004
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys)
|
rs767718283
|
0.00004
|
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys)
|
rs753112469
|
0.00004
|
NM_013335.4(GMPPA):c.516C>T (p.Ser172=)
|
rs765824301
|
0.00004
|
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)
|
rs886049649
|
0.00004
|
NM_178817.4(MRAP):c.-91C>T
|
rs565439357
|
0.00004
|
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)
|
rs765987481
|
0.00003
|
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)
|
rs104894154
|
0.00003
|
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)
|
rs879802265
|
0.00003
|
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=)
|
rs146311005
|
0.00003
|
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=)
|
rs1043151688
|
0.00003
|
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)
|
rs80358218
|
0.00003
|
NM_000349.3(STAR):c.312T>C (p.Asn104=)
|
rs200934871
|
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_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
0.00003
|
NM_000475.5(NR0B1):c.324G>A (p.Ser108=)
|
rs147442403
|
0.00003
|
NM_000497.4(CYP11B1):c.*1358T>C
|
rs886062734
|
0.00003
|
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=)
|
rs200096159
|
0.00003
|
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn)
|
rs762347776
|
0.00003
|
NM_000497.4(CYP11B1):c.395+6C>T
|
rs553707049
|
0.00003
|
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)
|
rs775479837
|
0.00003
|
NM_000497.4(CYP11B1):c.595+14G>A
|
rs1208266252
|
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.293-7C>G
|
rs193922544
|
0.00003
|
NM_000500.9(CYP21A2):c.293-88G>A
|
rs1282239643
|
0.00003
|
NM_000500.9(CYP21A2):c.738+75C>T
|
rs1463196531
|
0.00003
|
NM_000529.2(MC2R):c.*1092G>A
|
rs886053625
|
0.00003
|
NM_000529.2(MC2R):c.*223T>C
|
rs369247895
|
0.00003
|
NM_000529.2(MC2R):c.*390A>G
|
rs749097541
|
0.00003
|
NM_000529.2(MC2R):c.*434T>C
|
rs886053647
|
0.00003
|
NM_000529.2(MC2R):c.*848A>T
|
rs766857800
|
0.00003
|
NM_000529.2(MC2R):c.*971G>C
|
rs1317072974
|
0.00003
|
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg)
|
rs104894656
|
0.00003
|
NM_001379228.1(MRAP):c.106+1G>C
|
rs566223651
|
0.00003
|
NM_001395413.1(POR):c.*21C>A
|
rs782245884
|
0.00003
|
NM_001395413.1(POR):c.1057+20C>T
|
rs782720450
|
0.00003
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
NM_001395413.1(POR):c.1270C>T (p.Arg424Trp)
|
rs782197760
|
0.00003
|
NM_001395413.1(POR):c.1390-14G>A
|
rs782583370
|
0.00003
|
NM_001395413.1(POR):c.162C>G (p.Phe54Leu)
|
rs927062544
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_001395413.1(POR):c.1660+5G>C
|
rs782407937
|
0.00003
|
NM_001395413.1(POR):c.1662C>T (p.Gly554=)
|
rs541657992
|
0.00003
|
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp)
|
rs72557950
|
0.00003
|
NM_001395413.1(POR):c.205T>C (p.Phe69Leu)
|
rs782107314
|
0.00003
|
NM_001395413.1(POR):c.229-10C>A
|
rs542774696
|
0.00003
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
NM_001395413.1(POR):c.316G>A (p.Gly106Arg)
|
rs372623440
|
0.00003
|
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys)
|
rs782681272
|
0.00003
|
NM_001395413.1(POR):c.723-13C>T
|
rs372119575
|
0.00003
|
NM_001395413.1(POR):c.821+2dup
|
rs886062440
|
0.00003
|
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln)
|
rs201349663
|
0.00003
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_013335.4(GMPPA):c.876C>T (p.Thr292=)
|
rs371527019
|
0.00003
|
NM_014825.3(URB1):c.*2725A>G
|
rs1001304261
|
0.00003
|
NM_015665.6(AAAS):c.1191dup (p.Glu398fs)
|
rs746305979
|
0.00003
|
NM_015665.6(AAAS):c.1331+1G>A
|
rs150511103
|
0.00003
|
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)
|
rs754637718
|
0.00003
|
NM_015665.6(AAAS):c.307+13C>T
|
rs761242924
|
0.00003
|
NM_015665.6(AAAS):c.362C>T (p.Ala121Val)
|
rs201451157
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_015665.6(AAAS):c.667G>C (p.Asp223His)
|
rs141013947
|
0.00003
|
NM_015665.6(AAAS):c.819T>C (p.Asp273=)
|
rs149487112
|
0.00003
|
NM_015665.6(AAAS):c.894C>T (p.Asp298=)
|
rs199636211
|
0.00003
|
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)
|
rs367833709
|
0.00002
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
NM_000102.4(CYP17A1):c.297+2T>C
|
rs764723654
|
0.00002
|
NM_000102.4(CYP17A1):c.483C>T (p.Asn161=)
|
rs767962487
|
0.00002
|
NM_000102.4(CYP17A1):c.654C>T (p.Val218=)
|
rs375350911
|
0.00002
|
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His)
|
rs746480412
|
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.625G>A (p.Gly209Arg)
|
rs587669956
|
0.00002
|
NM_000198.4(HSD3B2):c.867del (p.Met290fs)
|
rs767167623
|
0.00002
|
NM_000349.3(STAR):c.411C>T (p.Leu137=)
|
rs368559257
|
0.00002
|
NM_000349.3(STAR):c.731G>A (p.Ser244Asn)
|
rs1331812230
|
0.00002
|
NM_000349.3(STAR):c.745-1G>C
|
rs374297649
|
0.00002
|
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)
|
rs751759820
|
0.00002
|
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)
|
rs777276628
|
0.00002
|
NM_000497.4(CYP11B1):c.*1622C>T
|
rs543935807
|
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.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln)
|
rs200559974
|
0.00002
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)
|
rs104894657
|
0.00002
|
NM_001395413.1(POR):c.-14+9T>C
|
rs1401114101
|
0.00002
|
NM_001395413.1(POR):c.1033del (p.Val345fs)
|
rs1563433095
|
0.00002
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala)
|
rs558340290
|
0.00002
|
NM_001395413.1(POR):c.157G>A (p.Glu53Lys)
|
rs782151568
|
0.00002
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
0.00002
|
NM_001395413.1(POR):c.1661-12C>T
|
rs369107420
|
0.00002
|
NM_001395413.1(POR):c.1661-20C>A
|
rs1335012473
|
0.00002
|
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
|
rs28931607
|
0.00002
|
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter)
|
rs781946801
|
0.00002
|
NM_001395413.1(POR):c.1881C>T (p.Tyr627=)
|
rs113741710
|
0.00002
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
NM_001395413.1(POR):c.1973C>T (p.Ala658Val)
|
rs782753228
|
0.00002
|
NM_001395413.1(POR):c.460G>A (p.Asp154Asn)
|
rs782422122
|
0.00002
|
NM_001395413.1(POR):c.572G>A (p.Arg191Gln)
|
rs769916309
|
0.00002
|
NM_001395413.1(POR):c.711C>T (p.Gly237=)
|
rs374115833
|
0.00002
|
NM_001395413.1(POR):c.772G>A (p.Val258Met)
|
rs1371752607
|
0.00002
|
NM_001395413.1(POR):c.892C>T (p.Arg298Cys)
|
rs200097755
|
0.00002
|
NM_001395413.1(POR):c.893G>A (p.Arg298His)
|
rs782125318
|
0.00002
|
NM_001395413.1(POR):c.938G>C (p.Arg313Thr)
|
rs782572970
|
0.00002
|
NM_006440.5(TXNRD2):c.417del (p.Asn140fs)
|
rs780054798
|
0.00002
|
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His)
|
rs568570865
|
0.00002
|
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe)
|
rs1251641134
|
0.00002
|
NM_013335.4(GMPPA):c.864C>T (p.Tyr288=)
|
rs781071244
|
0.00002
|
NM_015665.6(AAAS):c.234G>A (p.Lys78=)
|
rs145519240
|
0.00002
|
NM_015665.6(AAAS):c.663C>G (p.Thr221=)
|
rs886049650
|
0.00002
|
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)
|
rs779681475
|
0.00002
|
NM_178817.4(MRAP):c.-156C>T
|
rs886057001
|
0.00002
|
NM_178817.4(MRAP):c.-157G>A
|
rs886057000
|
0.00002
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
NM_000102.4(CYP17A1):c.*130C>T
|
rs886046665
|
0.00001
|
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
|
rs61754278
|
0.00001
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)
|
rs104894142
|
0.00001
|
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)
|
rs752811843
|
0.00001
|
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu)
|
rs760695410
|
0.00001
|
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)
|
rs104894143
|
0.00001
|
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=)
|
rs755050448
|
0.00001
|
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)
|
rs777638364
|
0.00001
|
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp)
|
rs370973897
|
0.00001
|
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=)
|
rs535575638
|
0.00001
|
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)
|
rs104894153
|
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_000103.4(CYP19A1):c.1142A>T (p.Asp381Val)
|
rs773015145
|
0.00001
|
NM_000198.4(HSD3B2):c.*411T>C
|
rs1651940686
|
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.308-14C>A
|
rs750286630
|
0.00001
|
NM_000198.4(HSD3B2):c.308-9C>T
|
rs375047799
|
0.00001
|
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)
|
rs587628683
|
0.00001
|
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=)
|
rs374909270
|
0.00001
|
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)
|
rs80358219
|
0.00001
|
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=)
|
rs886045197
|
0.00001
|
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)
|
rs929360018
|
0.00001
|
NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=)
|
rs116728039
|
0.00001
|
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln)
|
rs751984843
|
0.00001
|
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)
|
rs80358221
|
0.00001
|
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=)
|
rs587775183
|
0.00001
|
NM_000349.2(STAR):c.-152G>A
|
rs1196346446
|
0.00001
|
NM_000349.3(STAR):c.*550A>C
|
rs1236012022
|
0.00001
|
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)
|
rs781281145
|
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.779T>C (p.Leu260Pro)
|
rs551783234
|
0.00001
|
NM_000349.3(STAR):c.792G>A (p.Gln264=)
|
rs1358166887
|
0.00001
|
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)
|
rs1213986618
|
0.00001
|
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=)
|
rs990602963
|
0.00001
|
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=)
|
rs572970359
|
0.00001
|
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)
|
rs745852247
|
0.00001
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
NM_000475.5(NR0B1):c.90A>G (p.Pro30=)
|
rs777399647
|
0.00001
|
NM_000497.4(CYP11B1):c.*1313C>T
|
rs973876982
|
0.00001
|
NM_000497.4(CYP11B1):c.*1476G>C
|
rs1325854085
|
0.00001
|
NM_000497.4(CYP11B1):c.*245C>G
|
rs538608688
|
0.00001
|
NM_000497.4(CYP11B1):c.*495C>T
|
rs886062736
|
0.00001
|
NM_000497.4(CYP11B1):c.*607C>T
|
rs1816856226
|
0.00001
|
NM_000497.4(CYP11B1):c.*901G>A
|
rs748103274
|
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.1090T>C (p.Leu364=)
|
rs754660381
|
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.1200+11C>T
|
rs753651666
|
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.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg)
|
rs747287245
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr)
|
rs1817062027
|
0.00001
|
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile)
|
rs193922539
|
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.374A>G (p.His125Arg)
|
rs757389720
|
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.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)
|
rs140336749
|
0.00001
|
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu)
|
rs370266763
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000497.4(CYP11B1):c.596-2A>T
|
rs775946442
|
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.802G>A (p.Asp268Asn)
|
rs748180875
|
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.917C>T (p.Ala306Val)
|
rs387907572
|
0.00001
|
NM_000497.4(CYP11B1):c.948G>C (p.Val316=)
|
rs778295450
|
0.00001
|
NM_000497.4(CYP11B1):c.955-1G>A
|
rs1456715954
|
0.00001
|
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)
|
rs772900496
|
0.00001
|
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)
|
rs574370139
|
0.00001
|
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter)
|
rs151344503
|
0.00001
|
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)
|
rs151344504
|
0.00001
|
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly)
|
rs1436972952
|
0.00001
|
NM_000500.9(CYP21A2):c.293-131_293-129dup
|
rs1219292422
|
0.00001
|
NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)
|
rs371412889
|
0.00001
|
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=)
|
rs1433029679
|
0.00001
|
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly)
|
rs1229809778
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
0.00001
|
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val)
|
rs746303150
|
0.00001
|
NM_000529.2(MC2R):c.*1856T>C
|
rs935635102
|
0.00001
|
NM_000529.2(MC2R):c.*2409A>G
|
rs893851558
|
0.00001
|
NM_000529.2(MC2R):c.*2427T>C
|
rs2045235792
|
0.00001
|
NM_000529.2(MC2R):c.*27C>T
|
rs886053650
|
0.00001
|
NM_000529.2(MC2R):c.*608A>G
|
rs886053645
|
0.00001
|
NM_000529.2(MC2R):c.*791A>G
|
rs754283731
|
0.00001
|
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn)
|
rs104894661
|
0.00001
|
NM_000529.2(MC2R):c.403G>A (p.Ala135Thr)
|
rs764887426
|
0.00001
|
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)
|
rs104894660
|
0.00001
|
NM_000529.2(MC2R):c.437G>A (p.Arg146His)
|
rs758709668
|
0.00001
|
NM_001379228.1(MRAP):c.106+1del
|
rs1476574441
|
0.00001
|
NM_001379228.1(MRAP):c.126C>T (p.Phe42=)
|
rs769898813
|
0.00001
|
NM_001395413.1(POR):c.1029C>T (p.Asp343=)
|
rs201568454
|
0.00001
|
NM_001395413.1(POR):c.1033G>A (p.Val345Ile)
|
rs373128937
|
0.00001
|
NM_001395413.1(POR):c.103G>A (p.Val35Met)
|
rs782469484
|
0.00001
|
NM_001395413.1(POR):c.1057+11C>T
|
rs782029570
|
0.00001
|
NM_001395413.1(POR):c.1057+3G>A
|
rs1247013812
|
0.00001
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
NM_001395413.1(POR):c.1173G>A (p.Gln391=)
|
rs1220024534
|
0.00001
|
NM_001395413.1(POR):c.1222T>G (p.Ser408Ala)
|
rs781842238
|
0.00001
|
NM_001395413.1(POR):c.1240-16C>T
|
rs1266871005
|
0.00001
|
NM_001395413.1(POR):c.1256G>T (p.Trp419Leu)
|
rs1419019194
|
0.00001
|
NM_001395413.1(POR):c.1374C>T (p.Ile458=)
|
rs1003383217
|
0.00001
|
NM_001395413.1(POR):c.1375G>A (p.Ala459Thr)
|
rs72557936
|
0.00001
|
NM_001395413.1(POR):c.1526T>C (p.Val509Ala)
|
rs1789403650
|
0.00001
|
NM_001395413.1(POR):c.1575C>T (p.Thr525=)
|
rs933264724
|
0.00001
|
NM_001395413.1(POR):c.1585A>G (p.Ile529Val)
|
rs886062442
|
0.00001
|
NM_001395413.1(POR):c.160T>C (p.Phe54Leu)
|
rs782711779
|
0.00001
|
NM_001395413.1(POR):c.163A>G (p.Thr55Ala)
|
rs781793249
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.1726C>T (p.Arg576Trp)
|
rs868927799
|
0.00001
|
NM_001395413.1(POR):c.179+2T>C
|
rs936203749
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_001395413.1(POR):c.182C>T (p.Thr61Ile)
|
rs868909994
|
0.00001
|
NM_001395413.1(POR):c.1959G>T (p.Met653Ile)
|
rs377283521
|
0.00001
|
NM_001395413.1(POR):c.1962G>C (p.Glu654Asp)
|
rs371420725
|
0.00001
|
NM_001395413.1(POR):c.1968G>A (p.Ala656=)
|
rs782446980
|
0.00001
|
NM_001395413.1(POR):c.1991A>C (p.Lys664Thr)
|
rs782588164
|
0.00001
|
NM_001395413.1(POR):c.2013C>T (p.Tyr671=)
|
rs1554559514
|
0.00001
|
NM_001395413.1(POR):c.251A>G (p.Tyr84Cys)
|
rs1047228872
|
0.00001
|
NM_001395413.1(POR):c.301G>A (p.Asp101Asn)
|
rs958254199
|
0.00001
|
NM_001395413.1(POR):c.438C>T (p.Thr146=)
|
rs782302163
|
0.00001
|
NM_001395413.1(POR):c.484G>T (p.Asp162Tyr)
|
rs1003447223
|
0.00001
|
NM_001395413.1(POR):c.754G>A (p.Asp252Asn)
|
rs41299514
|
0.00001
|
NM_001395413.1(POR):c.764C>T (p.Ala255Val)
|
rs367782552
|
0.00001
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
NM_001395413.1(POR):c.821C>T (p.Pro274Leu)
|
rs369749344
|
0.00001
|
NM_001395413.1(POR):c.825C>T (p.Pro275=)
|
rs782052242
|
0.00001
|
NM_001395413.1(POR):c.938+3A>G
|
rs782232516
|
0.00001
|
NM_001395413.1(POR):c.967T>C (p.Tyr323His)
|
rs782419727
|
0.00001
|
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp)
|
rs777650793
|
0.00001
|
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val)
|
rs373970291
|
0.00001
|
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)
|
rs750437487
|
0.00001
|
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)
|
rs397518460
|
0.00001
|
NM_013335.4(GMPPA):c.336G>A (p.Val112=)
|
rs372560013
|
0.00001
|
NM_013335.4(GMPPA):c.447C>T (p.Ser149=)
|
rs749971952
|
0.00001
|
NM_013335.4(GMPPA):c.571T>C (p.Leu191=)
|
rs560095573
|
0.00001
|
NM_013335.4(GMPPA):c.783C>T (p.Tyr261=)
|
rs778374979
|
0.00001
|
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)
|
rs1382726525
|
0.00001
|
NM_014825.3(URB1):c.*2741C>T
|
rs1601112595
|
0.00001
|
NM_014825.3(URB1):c.*2908A>T
|
rs201141721
|
0.00001
|
NM_015665.6(AAAS):c.1087+1G>A
|
rs1035139364
|
0.00001
|
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)
|
rs886049652
|
0.00001
|
NM_015665.6(AAAS):c.1229G>A (p.Arg410His)
|
rs768786904
|
0.00001
|
NM_015665.6(AAAS):c.124-4A>G
|
rs886049651
|
0.00001
|
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)
|
rs751369041
|
0.00001
|
NM_015665.6(AAAS):c.1417-14T>G
|
rs748004231
|
0.00001
|
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu)
|
rs751967235
|
0.00001
|
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)
|
rs754078574
|
0.00001
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
NM_015665.6(AAAS):c.721C>T (p.His241Tyr)
|
rs1944356188
|
0.00001
|
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)
|
rs1745022731
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_015665.6(AAAS):c.981A>G (p.Leu327=)
|
rs1174765635
|
0.00001
|
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys)
|
rs560069464
|
0.00001
|
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)
|
rs41271081
|
0.00001
|
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)
|
rs1451092520
|
0.00001
|
NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys)
|
rs370273690
|
0.00001
|
NM_182977.3(NNT):c.385C>T (p.Arg129Ter)
|
rs886039789
|
0.00001
|
CYP11B1, CYP11B1/CYP11B2 CHIMERA
|
|
|
CYP21A2, 30-KB DEL
|
|
|
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
|
|
|
NC_000002.11:g.(?_218999525)_(220435954_?)dup
|
|
|
NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del
|
|
|
NC_000007.14:g.75915138G>C
|
rs535395573
|
|
NC_000012.12:g.53306793_53321761del
|
|
|
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
|
|
|
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
|
|
|
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
|
|
|
NC_000023.10:g.(?_28807461)_(33229429_?)dup
|
|
|
NC_000023.10:g.(?_30322696)_(30327480_?)del
|
|
|
NC_000023.11:g.(?_30304559)_(30309383_?)dup
|
|
|
NC_000023.11:g.(?_30304579)_(30309363_?)del
|
|
|
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
|
|
|
NG_009814.1:g.(?_4989)_(10173_?)del
|
|
|
NM_000033.4(ABCD1):c.1820del (p.Gly607fs)
|
rs2148399029
|
|
NM_000102.4(CYP17A1):c.*165dup
|
rs45455494
|
|
NM_000102.4(CYP17A1):c.*67C>A
|
rs886046666
|
|
NM_000102.4(CYP17A1):c.-30dup
|
rs886046667
|
|
NM_000102.4(CYP17A1):c.-34T>C
|
rs743572
|
|
NM_000102.4(CYP17A1):c.102G>T (p.Leu34=)
|
rs752346898
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
NM_000102.4(CYP17A1):c.1050CCT[1] (p.Leu353del)
|
rs1590203064
|
|
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)
|
rs2134082367
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=)
|
rs772903405
|
|
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
|
|
|
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter)
|
rs1060499582
|
|
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
|
|
|
NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly)
|
|
|
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)
|
rs367833709
|
|
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu)
|
rs1554879846
|
|
NM_000102.4(CYP17A1):c.1244-1G>C
|
|
|
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
|
|
|
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)
|
rs104894145
|
|
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
|
|
|
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)
|
|
|
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys)
|
rs371825363
|
|
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)
|
|
|
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val)
|
rs138630127
|
|
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
|
|
|
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter)
|
|
|
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys)
|
rs746813353
|
|
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)
|
rs756135168
|
|
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys)
|
rs1250463562
|
|
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)
|
|
|
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=)
|
rs539435111
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
|
|
|
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.235C>A (p.His79Asn)
|
rs370973897
|
|
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
|
|
|
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=)
|
rs150698224
|
|
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
|
rs1844148108
|
|
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)
|
|
|
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)
|
|
|
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)
|
rs942376359
|
|
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=)
|
rs1844146929
|
|
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser)
|
rs1485258085
|
|
NM_000102.4(CYP17A1):c.437-1G>A
|
|
|
NM_000102.4(CYP17A1):c.438_439del (p.Ile146fs)
|
|
|
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu)
|
rs752540777
|
|
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
|
|
|
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)
|
rs1173000590
|
|
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)
|
|
|
NM_000102.4(CYP17A1):c.666+2T>C
|
|
|
NM_000102.4(CYP17A1):c.667-13_667-10del
|
rs1844127277
|
|
NM_000102.4(CYP17A1):c.667-16_680del
|
|
|
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)
|
rs202092158
|
|
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
|
|
|
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)
|
rs1458440922
|
|
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)
|
rs104894136
|
|
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
|
|
|
NM_000102.4(CYP17A1):c.753+1G>A
|
rs1844126291
|
|
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)
|
|
|
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)
|
rs766331452
|
|
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)
|
|
|
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)
|
|
|
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)
|
|
|
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)
|
rs1844105842
|
|
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)
|
|
|
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
|
|
|
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
|
|
|
NM_000198.4(HSD3B2):c.*9T>A
|
rs1651924447
|
|
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)
|
rs905880501
|
|
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=)
|
rs116342586
|
|
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu)
|
rs121964897
|
|
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)
|
rs1651920667
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)
|
|
|
NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)
|
|
|
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp)
|
rs886045196
|
|
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)
|
|
|
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
|
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg)
|
|
|
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.558dup (p.Thr187fs)
|
rs770815049
|
|
NM_000198.4(HSD3B2):c.563A>G (p.Tyr188Cys)
|
|
|
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)
|
|
|
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)
|
rs1040579140
|
|
NM_000198.4(HSD3B2):c.65dup (p.Leu22fs)
|
rs1266831898
|
|
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)
|
rs80358220
|
|
NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)
|
|
|
NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)
|
|
|
NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro)
|
|
|
NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)
|
|
|
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg)
|
rs771688849
|
|
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)
|
|
|
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)
|
rs754609778
|
|
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
|
|
|
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=)
|
rs1292390178
|
|
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter)
|
rs756663759
|
|
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
|
rs781213951
|
|
NM_000198.4(HSD3B2):c.947G>A (p.Arg316His)
|
|
|
NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter)
|
rs765335418
|
|
NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]
|
|
|
NM_000349.2(STAR):c.-249C>A
|
rs886062906
|
|
NM_000349.3(STAR):c.*1384del
|
rs886062898
|
|
NM_000349.3(STAR):c.*348C>T
|
rs886062904
|
|
NM_000349.3(STAR):c.*556A>G
|
rs886062903
|
|
NM_000349.3(STAR):c.*768G>A
|
rs1802503995
|
|
NM_000349.3(STAR):c.*796A>G
|
rs886062902
|
|
NM_000349.3(STAR):c.*948del
|
rs886062900
|
|
NM_000349.3(STAR):c.*965_*967dup
|
rs11326306
|
|
NM_000349.3(STAR):c.*967del
|
rs11326306
|
|
NM_000349.3(STAR):c.-16C>T
|
rs779983468
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000349.3(STAR):c.125dup (p.Thr44fs)
|
rs750549499
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del)
|
rs1554503018
|
|
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.161G>T (p.Arg54Leu)
|
rs200245763
|
|
NM_000349.3(STAR):c.178+1G>C
|
rs1554503011
|
|
NM_000349.3(STAR):c.178+2dup
|
rs1563268785
|
|
NM_000349.3(STAR):c.179-2A>G
|
rs1554502986
|
|
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)
|
rs1563268652
|
|
NM_000349.3(STAR):c.203del (p.Tyr68fs)
|
|
|
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)
|
|
|
NM_000349.3(STAR):c.229del (p.Gln77fs)
|
|
|
NM_000349.3(STAR):c.271_272del (p.Ser91fs)
|
|
|
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del)
|
rs146872295
|
|
NM_000349.3(STAR):c.298_299del (p.Gln101fs)
|
rs765904696
|
|
NM_000349.3(STAR):c.306+1G>A
|
|
|
NM_000349.3(STAR):c.307-1G>A
|
rs2130614519
|
|
NM_000349.3(STAR):c.391_392insT (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.436G>T (p.Glu146Ter)
|
|
|
NM_000349.3(STAR):c.466-11T>A
|
rs1053284504
|
|
NM_000349.3(STAR):c.475A>T (p.Lys159Ter)
|
|
|
NM_000349.3(STAR):c.484A>C (p.Lys162Gln)
|
rs886062905
|
|
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)
|
|
|
NM_000349.3(STAR):c.503dup (p.His168fs)
|
|
|
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)
|
rs747169620
|
|
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.545G>T (p.Arg182Leu)
|
rs104894086
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
NM_000349.3(STAR):c.611_612del (p.Thr204fs)
|
|
|
NM_000349.3(STAR):c.629_630del (p.Pro210fs)
|
rs771895449
|
|
NM_000349.3(STAR):c.64+2T>C
|
rs1298369560
|
|
NM_000349.3(STAR):c.650+1G>A
|
rs1563267767
|
|
NM_000349.3(STAR):c.650G>C (p.Arg217Thr)
|
rs137852689
|
|
NM_000349.3(STAR):c.651-1G>C
|
rs749626865
|
|
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
|
|
|
NM_000349.3(STAR):c.677del (p.Val226fs)
|
rs1554502732
|
|
NM_000349.3(STAR):c.695del (p.Gly232fs)
|
rs757367795
|
|
NM_000349.3(STAR):c.714del (p.Lys238fs)
|
rs1417088430
|
|
NM_000349.3(STAR):c.716_732del (p.Leu239fs)
|
rs1554502725
|
|
NM_000349.3(STAR):c.720G>C (p.Thr240=)
|
rs768179486
|
|
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)
|
|
|
NM_000349.3(STAR):c.745-1_757del
|
rs1554502668
|
|
NM_000349.3(STAR):c.749G>A (p.Trp250Ter)
|
rs104894087
|
|
NM_000349.3(STAR):c.801dup (p.Ala268fs)
|
rs1554502663
|
|
NM_000349.3(STAR):c.811del (p.Leu271fs)
|
rs1350908961
|
|
NM_000349.3(STAR):c.814C>G (p.Arg272Gly)
|
|
|
NM_000349.3(STAR):c.82_83insA (p.Val28fs)
|
|
|
NM_000349.3(STAR):c.97del (p.Gln33fs)
|
|
|
NM_000475.5(NR0B1):c.0_1168+260del
|
|
|
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
|
|
|
NM_000475.5(NR0B1):c.1006dup (p.Val336fs)
|
rs1926565039
|
|
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
|
|
|
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
|
|
|
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
|
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
|
|
|
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
|
|
|
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
|
|
|
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
|
|
|
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
|
|
|
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
|
|
|
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
|
|
|
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
|
|
|
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)
|
rs386134262
|
|
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter)
|
rs104894908
|
|
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
|
|
|
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
|
|
|
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter)
|
rs104894886
|
|
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
|
|
|
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)
|
rs1555972957
|
|
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
|
|
|
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp)
|
rs104894900
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn)
|
rs104894896
|
|
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
|
|
|
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
|
|
|
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
|
|
|
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
|
|
|
NM_000475.5(NR0B1):c.1168+10C>G
|
|
|
NM_000475.5(NR0B1):c.1168+13dup
|
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
NM_000475.5(NR0B1):c.1168+7G>T
|
|
|
NM_000475.5(NR0B1):c.1169-10C>T
|
|
|
NM_000475.5(NR0B1):c.1169-112_*17delinsTG
|
rs1555972632
|
|
NM_000475.5(NR0B1):c.1169-1G>A
|
rs1555972666
|
|
NM_000475.5(NR0B1):c.1169-1G>T
|
|
|
NM_000475.5(NR0B1):c.1169-8C>A
|
|
|
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter)
|
rs1569269179
|
|
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
|
|
|
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
|
|
|
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter)
|
rs104894894
|
|
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
|
|
|
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter)
|
rs104894906
|
|
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
|
|
|
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
|
|
|
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
|
|
|
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
|
|
|
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer)
|
rs1555972655
|
|
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
|
|
|
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
|
|
|
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
|
|
|
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
|
|
|
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
|
|
|
NM_000475.5(NR0B1):c.1267del (p.His423fs)
|
rs1569268048
|
|
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
|
|
|
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile)
|
rs387907373
|
|
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
|
|
|
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
|
|
|
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
|
|
|
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
|
|
|
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
|
|
|
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=)
|
rs2147004349
|
|
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser)
|
rs104894897
|
|
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)
|
rs28935481
|
|
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
|
|
|
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)
|
rs1555972641
|
|
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
|
|
|
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
|
|
|
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
|
|
|
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)
|
rs1555972640
|
|
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
|
|
|
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
|
|
|
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln)
|
rs1926485824
|
|
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
|
|
|
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
|
|
|
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs)
|
rs2147007424
|
|
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
|
|
|
NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
|
rs1926602170
|
|
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
|
|
|
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
|
|
|
NM_000475.5(NR0B1):c.18C>T (p.His6=)
|
|
|
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
|
|
|
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu)
|
rs1926600775
|
|
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
|
|
|
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
|
|
|
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
|
|
|
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
|
|
|
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
|
|
|
NM_000475.5(NR0B1):c.215_218dup (p.His73fs)
|
rs1926599738
|
|
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
|
|
|
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
|
|
|
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
|
|
|
NM_000475.5(NR0B1):c.237C>A (p.Ile79=)
|
rs2147007339
|
|
NM_000475.5(NR0B1):c.252G>C (p.Leu84=)
|
rs1192762456
|
|
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
|
|
|
NM_000475.5(NR0B1):c.255G>T (p.Thr85=)
|
rs759371222
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
|
|
|
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
|
|
|
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)
|
rs104894892
|
|
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
|
|
|
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
|
|
|
NM_000475.5(NR0B1):c.277del (p.Ala93fs)
|
rs1555973189
|
|
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
|
|
|
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
|
|
|
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
|
|
|
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
|
|
|
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
|
|
|
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu)
|
rs1569269085
|
|
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
|
|
|
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
|
|
|
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter)
|
rs132630327
|
|
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
|
|
|
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
|
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
|
|
|
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
|
|
|
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
|
|
|
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
|
|
|
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
|
|
|
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
|
|
|
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
|
|
|
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
|
|
|
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
|
|
|
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
|
|
|
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
|
|
|
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
|
|
|
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
|
|
|
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
|
|
|
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
|
|
|
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
|
|
|
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
|
|
|
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
|
|
|
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
|
|
|
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
|
|
|
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
|
|
|
NM_000475.5(NR0B1):c.471C>T (p.His157=)
|
|
|
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
|
|
|
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
|
|
|
NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
|
|
|
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
|
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
|
|
|
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs)
|
rs2147007005
|
|
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter)
|
rs104894891
|
|
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)
|
rs1555973132
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
|
|
|
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
|
|
|
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
|
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
|
|
|
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
|
|
|
NM_000475.5(NR0B1):c.543del (p.Gly183fs)
|
rs1555973120
|
|
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs)
|
rs1555973119
|
|
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer)
|
rs1555973117
|
|
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
|
|
|
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
|
|
|
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
|
|
|
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
|
|
|
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
|
|
|
NM_000475.5(NR0B1):c.582G>C (p.Ala194=)
|
rs1275730944
|
|
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
|
|
|
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
|
|
|
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter)
|
rs104894898
|
|
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln)
|
rs1569268891
|
|
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
|
|
|
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
|
|
|
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
|
|
|
NM_000475.5(NR0B1):c.617del (p.His206fs)
|
|
|
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
|
|
|
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs)
|
rs1555973091
|
|
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
|
|
|
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
|
|
|
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
|
|
|
NM_000475.5(NR0B1):c.652dup (p.Thr218fs)
|
rs1555973092
|
|
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
|
|
|
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
|
|
|
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
|
|
|
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
|
|
|
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
|
|
|
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
|
|
|
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
|
|
|
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
|
|
|
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
|
|
|
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
|
|
|
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
|
|
|
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
|
|
|
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
|
|
|
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
|
|
|
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
|
|
|
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
|
|
|
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter)
|
rs104894889
|
|
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
|
|
|
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
|
|
|
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
|
|
|
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
|
|
|
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
|
|
|
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
|
|
|
NM_000475.5(NR0B1):c.754del (p.Gln252fs)
|
rs1555973063
|
|
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
|
|
|
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
|
|
|
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
|
|
|
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter)
|
rs1311271225
|
|
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
|
|
|
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp)
|
rs1555973058
|
|
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
|
|
|
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
|
|
|
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
|
|
|
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg)
|
rs1926571373
|
|
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter)
|
rs104894887
|
|
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro)
|
rs2147006592
|
|
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
|
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
|
|
|
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
|
|
|
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter)
|
rs104894895
|
|
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)
|
rs753734546
|
|
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
|
|
|
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
|
|
|
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter)
|
rs1555973031
|
|
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter)
|
rs104894890
|
|
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro)
|
rs1060499835
|
|
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])
|
rs1601792367
|
|
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
|
|
|
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg)
|
rs1555973021
|
|
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser)
|
rs1489209061
|
|
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys)
|
rs28935482
|
|
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro)
|
rs2147006470
|
|
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
|
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
|
|
|
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
|
|
|
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
|
|
|
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
|
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
|
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
|
|
|
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
|
|
|
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter)
|
rs1555972994
|
|
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
|
|
|
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
|
|
|
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
|
|
|
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
|
|
|
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
|
|
|
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
|
|
|
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
|
|
|
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
|
|
|
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
|
|
|
NM_000497.3:c.[1024C>T];[1012dup]
|
|
|
NM_000497.4(CYP11B1):c.*1012A>C
|
rs1816847260
|
|
NM_000497.4(CYP11B1):c.*1020C>T
|
rs5017238
|
|
NM_000497.4(CYP11B1):c.*1164G>A
|
rs886062735
|
|
NM_000497.4(CYP11B1):c.*1253G>T
|
rs1816842907
|
|
NM_000497.4(CYP11B1):c.*1296A>G
|
rs1816841780
|
|
NM_000497.4(CYP11B1):c.*1511C>T
|
rs1033272486
|
|
NM_000497.4(CYP11B1):c.*1550C>T
|
rs1425377435
|
|
NM_000497.4(CYP11B1):c.*1555del
|
rs548944247
|
|
NM_000497.4(CYP11B1):c.*1590G>C
|
rs886062733
|
|
NM_000497.4(CYP11B1):c.*1623G>C
|
rs997960869
|
|
NM_000497.4(CYP11B1):c.*1770A>T
|
rs369448045
|
|
NM_000497.4(CYP11B1):c.*1929A>C
|
rs201626683
|
|
NM_000497.4(CYP11B1):c.*193A>C
|
rs61752798
|
|
NM_000497.4(CYP11B1):c.*1944G>A
|
rs1816825330
|
|
NM_000497.4(CYP11B1):c.*1979G>A
|
rs1039347990
|
|
NM_000497.4(CYP11B1):c.*244C>T
|
rs1816862781
|
|
NM_000497.4(CYP11B1):c.*317T>C
|
rs567623158
|
|
NM_000497.4(CYP11B1):c.*390A>G
|
rs558749828
|
|
NM_000497.4(CYP11B1):c.*400C>T
|
rs61752801
|
|
NM_000497.4(CYP11B1):c.*485C>G
|
rs886062737
|
|
NM_000497.4(CYP11B1):c.*516A>T
|
rs5301
|
|
NM_000497.4(CYP11B1):c.*596C>A
|
rs1816856315
|
|
NM_000497.4(CYP11B1):c.*848C>T
|
rs149520110
|
|
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)
|
rs193922535
|
|
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)
|
|
|
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys)
|
rs1554652796
|
|
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)
|
|
|
NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp)
|
rs104894071
|
|
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly)
|
rs368944209
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)
|
rs104894062
|
|
NM_000497.4(CYP11B1):c.1122-2A>G
|
|
|
NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro)
|
|
|
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)
|
rs1816901292
|
|
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)
|
|
|
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu)
|
rs4541
|
|
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)
|
rs1379392398
|
|
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)
|
rs758714890
|
|
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)
|
rs1256580853
|
|
NM_000497.4(CYP11B1):c.1200+1G>T
|
|
|
NM_000497.4(CYP11B1):c.1200+1del
|
rs2130267209
|
|
NM_000497.4(CYP11B1):c.1201-1G>A
|
rs1437397442
|
|
NM_000497.4(CYP11B1):c.1201-9C>A
|
|
|
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser)
|
rs886062738
|
|
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs)
|
rs1554652650
|
|
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del)
|
rs2130266841
|
|
NM_000497.4(CYP11B1):c.1214del (p.Val405fs)
|
rs2130266809
|
|
NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)
|
|
|
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)
|
rs4998902
|
|
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)
|
rs754432887
|
|
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs)
|
rs1816889095
|
|
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)
|
rs1221010438
|
|
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)
|
rs28934586
|
|
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)
|
rs1447069098
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
|
|
|
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs)
|
rs2130266058
|
|
NM_000497.4(CYP11B1):c.1398+2T>C
|
rs577022490
|
|
NM_000497.4(CYP11B1):c.1398+4A>G
|
rs1586557065
|
|
NM_000497.4(CYP11B1):c.1398+5G>C
|
rs1563867837
|
|
NM_000497.4(CYP11B1):c.1399-1G>C
|
|
|
NM_000497.4(CYP11B1):c.1438del (p.Asp480fs)
|
rs1816868757
|
|
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser)
|
|
|
NM_000497.4(CYP11B1):c.147del (p.Trp49fs)
|
rs748867146
|
|
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)
|
rs1554652528
|
|
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=)
|
rs776766470
|
|
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)
|
rs1383321200
|
|
NM_000497.4(CYP11B1):c.199del (p.Glu67fs)
|
rs780398462
|
|
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)
|
rs1554653675
|
|
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala)
|
rs1554653718
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter)
|
rs1554653551
|
|
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)
|
rs764418169
|
|
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg)
|
rs770400476
|
|
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)
|
rs104894066
|
|
NM_000497.4(CYP11B1):c.359_363dup (p.His122fs)
|
|
|
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)
|
|
|
NM_000497.4(CYP11B1):c.372del (p.His125fs)
|
rs1554653520
|
|
NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs)
|
|
|
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met)
|
rs377423817
|
|
NM_000497.4(CYP11B1):c.395+1G>C
|
rs1554653514
|
|
NM_000497.4(CYP11B1):c.396-2A>G
|
|
|
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His)
|
rs104894067
|
|
NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys)
|
|
|
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)
|
|
|
NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu)
|
|
|
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter)
|
rs1479660166
|
|
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro)
|
rs1554653200
|
|
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)
|
rs142484434
|
|
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)
|
rs778556211
|
|
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter)
|
rs1554653714
|
|
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro)
|
rs1554653191
|
|
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)
|
rs1554653185
|
|
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)
|
rs535861895
|
|
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)
|
rs146105017
|
|
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
|
rs763195324
|
|
NM_000497.4(CYP11B1):c.595+12G>A
|
rs6387
|
|
NM_000497.4(CYP11B1):c.595+16G>T
|
rs1365173817
|
|
NM_000497.4(CYP11B1):c.595+1G>C
|
|
|
NM_000497.4(CYP11B1):c.596-2A>G
|
|
|
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=)
|
rs61751154
|
|
NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro)
|
|
|
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)
|
rs368125568
|
|
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del)
|
rs1554653044
|
|
NM_000497.4(CYP11B1):c.642_643del (p.His214fs)
|
rs1369163428
|
|
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=)
|
rs199525592
|
|
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)
|
|
|
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)
|
|
|
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)
|
|
|
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)
|
|
|
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
|
|
|
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)
|
rs1327055239
|
|
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)
|
rs866430018
|
|
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn)
|
rs1816964007
|
|
NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr)
|
|
|
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser)
|
rs753471858
|
|
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)
|
|
|
NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly)
|
|
|
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter)
|
rs1554652999
|
|
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter)
|
rs1554652998
|
|
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)
|
rs2130274854
|
|
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)
|
|
|
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter)
|
|
|
NM_000497.4(CYP11B1):c.799+17G>A
|
rs61751156
|
|
NM_000497.4(CYP11B1):c.799+1G>C
|
rs1554652990
|
|
NM_000497.4(CYP11B1):c.799+2T>C
|
rs193922541
|
|
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
|
|
|
NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp)
|
|
|
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
|
|
|
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)
|
|
|
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)
|
rs5290
|
|
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)
|
rs775128501
|
|
NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn)
|
|
|
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter)
|
rs1816949224
|
|
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)
|
rs2130273520
|
|
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)
|
rs202091168
|
|
NM_000497.4(CYP11B1):c.907del (p.Ala303fs)
|
rs769310764
|
|
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)
|
rs751843934
|
|
NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter)
|
rs2130273191
|
|
NM_000497.4(CYP11B1):c.928G>A (p.Glu310Lys)
|
rs387907574
|
|
NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp)
|
|
|
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)
|
|
|
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)
|
|
|
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg)
|
rs104894061
|
|
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)
|
rs104894061
|
|
NM_000497.4(CYP11B1):c.954+1del
|
|
|
NM_000497.4(CYP11B1):c.954+31G>A
|
rs2130272862
|
|
NM_000497.4(CYP11B1):c.954+9G>C
|
rs6411
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000497.4(CYP11B1):c.955-15_955-1del
|
rs1554652823
|
|
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)
|
rs1326688256
|
|
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
|
|
|
NM_000500.7(CYP21A2):c.[377C>G];[518T>A]
|
|
|
NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]
|
|
|
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
|
|
|
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]
|
|
|
NM_000500.7:c.*28697405C>T
|
|
|
NM_000500.7:c.*28697972C>G
|
|
|
NM_000500.7:c.*28698024_*28698031del8
|
|
|
NM_000500.7:c.*28698317T>A
|
|
|
NM_000500.7:c.*28699001G>T
|
|
|
NM_000500.7:c.*28699080dupT
|
|
|
NM_000500.7:c.*28699312C>T
|
|
|
NM_000500.7:c.*28699426C>T
|
|
|
NM_000500.9(CYP21A2):c.*18C>T
|
rs1582314321
|
|
NM_000500.9(CYP21A2):c.*2G>C
|
rs1182749183
|
|
NM_000500.9(CYP21A2):c.1019G>A (p.Arg340His)
|
rs72552754
|
|
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr)
|
rs2151875295
|
|
NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu)
|
|
|
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
|
|
|
NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro)
|
rs760216630
|
|
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)
|
rs574370139
|
|
NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro)
|
rs2151875445
|
|
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro)
|
rs376421504
|
|
NM_000500.9(CYP21A2):c.1118+1G>A
|
rs778895502
|
|
NM_000500.9(CYP21A2):c.1118+2T>C
|
rs1776240589
|
|
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn)
|
rs1554305880
|
|
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr)
|
rs528524868
|
|
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn)
|
rs1429901248
|
|
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
|
|
|
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His)
|
rs1582311004
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)
|
rs1451687726
|
|
NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser)
|
rs2151876037
|
|
NM_000500.9(CYP21A2):c.1223-3C>G
|
rs6460
|
|
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
|
rs72552757
|
|
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter)
|
rs1367112998
|
|
NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val)
|
rs2151876633
|
|
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)
|
rs193922543
|
|
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser)
|
rs1582312633
|
|
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg)
|
rs751456004
|
|
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=)
|
rs1188690556
|
|
NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu)
|
rs1257180779
|
|
NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg)
|
rs1240539721
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr)
|
rs776989258
|
|
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)
|
rs779791105
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=)
|
rs397515529
|
|
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs)
|
rs886038207
|
|
NM_000500.9(CYP21A2):c.17TGC[6] (p.Leu10dup)
|
rs61338903
|
|
NM_000500.9(CYP21A2):c.203-18G>C
|
rs1582300565
|
|
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs)
|
rs1582298980
|
|
NM_000500.9(CYP21A2):c.254del (p.Lys85fs)
|
rs1582300748
|
|
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser)
|
rs1185350916
|
|
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)
|
rs1554304513
|
|
NM_000500.9(CYP21A2):c.292+109C>G
|
rs1582301551
|
|
NM_000500.9(CYP21A2):c.292+1G>A
|
rs779144910
|
|
NM_000500.9(CYP21A2):c.292+3A>G
|
rs752771213
|
|
NM_000500.9(CYP21A2):c.292+45_292+46insTGT
|
rs1422458709
|
|
NM_000500.9(CYP21A2):c.293-100_293-99insG
|
rs1582301904
|
|
NM_000500.9(CYP21A2):c.293-115C>G
|
rs1582301787
|
|
NM_000500.9(CYP21A2):c.293-130C>T
|
rs1582301718
|
|
NM_000500.9(CYP21A2):c.293-136C>T
|
rs1582301685
|
|
NM_000500.9(CYP21A2):c.293-13C>A
|
rs6467
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.293-13C>T
|
rs6467
|
|
NM_000500.9(CYP21A2):c.293-2A>G
|
rs1582302625
|
|
NM_000500.9(CYP21A2):c.293-89A>G
|
rs1582302040
|
|
NM_000500.9(CYP21A2):c.293-91G>A
|
rs1051507539
|
|
NM_000500.9(CYP21A2):c.293-94T>A
|
rs1582301962
|
|
NM_000500.9(CYP21A2):c.293-95G>C
|
rs1382005578
|
|
NM_000500.9(CYP21A2):c.293-96G>T
|
rs1582301922
|
|
NM_000500.9(CYP21A2):c.322C>T (p.Leu108=)
|
rs1258749689
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
|
|
|
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln)
|
rs267606757
|
|
NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met)
|
|
|
NM_000500.9(CYP21A2):c.405C>T (p.Ser135=)
|
rs1582303392
|
|
NM_000500.9(CYP21A2):c.405del (p.Met136fs)
|
rs2151871966
|
|
NM_000500.9(CYP21A2):c.433del (p.Gln145fs)
|
rs2151872060
|
|
NM_000500.9(CYP21A2):c.448-3C>T
|
rs1582304092
|
|
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)
|
|
|
NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val)
|
rs1582304416
|
|
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg)
|
rs1582304441
|
|
NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro)
|
|
|
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr)
|
rs1582304457
|
|
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu)
|
rs1185695713
|
|
NM_000500.9(CYP21A2):c.511dup (p.Ser171fs)
|
|
|
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter)
|
rs1582304536
|
|
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu)
|
rs777946906
|
|
NM_000500.9(CYP21A2):c.550-19C>G
|
rs1582305066
|
|
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)
|
rs397515531
|
|
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)
|
rs1582305275
|
|
NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter)
|
rs1776123817
|
|
NM_000500.9(CYP21A2):c.651+2T>G
|
rs2151873259
|
|
NM_000500.9(CYP21A2):c.651+35A>G
|
rs12525076
|
|
NM_000500.9(CYP21A2):c.652-1G>A
|
rs1397184823
|
|
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys)
|
rs786204728
|
|
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val)
|
rs1582306855
|
|
NM_000500.9(CYP21A2):c.738+12_738+13inv
|
|
|
NM_000500.9(CYP21A2):c.738G>A (p.Lys246=)
|
rs1441177352
|
|
NM_000500.9(CYP21A2):c.739-74G>A
|
rs1582307366
|
|
NM_000500.9(CYP21A2):c.740del (p.Glu247fs)
|
rs750499484
|
|
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser)
|
rs182942340
|
|
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)
|
rs2151874375
|
|
NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys)
|
rs2151874388
|
|
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)
|
rs570785206
|
|
NM_000500.9(CYP21A2):c.85dup (p.His29fs)
|
rs1582299448
|
|
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)
|
rs201552310
|
|
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)
|
|
|
NM_000500.9(CYP21A2):c.923del (p.Leu308fs)
|
rs267606756
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_000500.9(CYP21A2):c.939+1G>C
|
rs1474566961
|
|
NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del)
|
rs1582309414
|
|
NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T]
|
|
|
NM_000500.9(CYP21A2):c.[1019G>A;1360C>T]
|
|
|
NM_000500.9(CYP21A2):c.[710T>A;713T>A]
|
|
|
NM_000500.9:c.(?_-50)_(939+1_940-1)del
|
|
|
NM_000529.2(MC2R):c.*1010T>A
|
rs886053633
|
|
NM_000529.2(MC2R):c.*1012T>A
|
rs886053632
|
|
NM_000529.2(MC2R):c.*1035G>A
|
rs2045247559
|
|
NM_000529.2(MC2R):c.*1043G>A
|
rs1007872828
|
|
NM_000529.2(MC2R):c.*1061C>A
|
rs117631803
|
|
NM_000529.2(MC2R):c.*1068A>G
|
rs1053713890
|
|
NM_000529.2(MC2R):c.*1265A>C
|
rs886053624
|
|
NM_000529.2(MC2R):c.*1469A>G
|
rs1258255213
|
|
NM_000529.2(MC2R):c.*1604G>C
|
rs28926185
|
|
NM_000529.2(MC2R):c.*1667G>A
|
rs886053621
|
|
NM_000529.2(MC2R):c.*1917C>A
|
rs1005290429
|
|
NM_000529.2(MC2R):c.*1920T>A
|
rs28926189
|
|
NM_000529.2(MC2R):c.*2572G>A
|
rs2045234534
|
|
NM_000529.2(MC2R):c.*376G>C
|
rs886053649
|
|
NM_000529.2(MC2R):c.*470G>A
|
rs886053646
|
|
NM_000529.2(MC2R):c.*471C>A
|
rs142527936
|
|
NM_000529.2(MC2R):c.*862T>C
|
rs886053644
|
|
NM_000529.2(MC2R):c.*957C>G
|
rs1053257976
|
|
NM_000529.2(MC2R):c.-117A>T
|
rs886053652
|
|
NM_000529.2(MC2R):c.-48T>C
|
rs559902243
|
|
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
|
|
|
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser)
|
rs267607231
|
|
NM_000529.2(MC2R):c.409C>A (p.Arg137=)
|
rs104894660
|
|
NM_000529.2(MC2R):c.424G>T (p.Val142Leu)
|
rs199950178
|
|
NM_000529.2(MC2R):c.459dup (p.Ile154fs)
|
rs1555619430
|
|
NM_000529.2(MC2R):c.524T>A (p.Val175Glu)
|
rs886053651
|
|
NM_000529.2(MC2R):c.560del (p.Val187fs)
|
rs1555619406
|
|
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
|
|
|
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)
|
rs104894659
|
|
NM_000529.2(MC2R):c.652_653insA (p.Ala218fs)
|
|
|
NM_000529.2(MC2R):c.666C>G (p.Thr222=)
|
rs1401738616
|
|
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)
|
rs1555619377
|
|
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)
|
rs761911005
|
|
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs)
|
rs1567895448
|
|
NM_000529.2(MC2R):c.702del (p.Phe235fs)
|
rs1555619372
|
|
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe)
|
rs104894662
|
|
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)
|
rs28940892
|
|
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
|
rs28926178
|
|
NM_001379228.1(MRAP):c.106+1G>A
|
rs566223651
|
|
NM_001379228.1(MRAP):c.106+1G>T
|
rs566223651
|
|
NM_001379228.1(MRAP):c.106+3_106+4insT
|
|
|
NM_001379228.1(MRAP):c.107-5C>T
|
rs373512270
|
|
NM_001379228.1(MRAP):c.130del (p.Trp43_Val44insTer)
|
rs760615045
|
|
NM_001379228.1(MRAP):c.17_23del (p.Asn6fs)
|
rs1569025178
|
|
NM_001379228.1(MRAP):c.1A>G (p.Met1Val)
|
rs1555897462
|
|
NM_001379228.1(MRAP):c.206+13G>C
|
rs749474036
|
|
NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser)
|
rs773835535
|
|
NM_001395413.1(POR):c.*137G>A
|
rs886062443
|
|
NM_001395413.1(POR):c.*219G>T
|
rs557751714
|
|
NM_001395413.1(POR):c.*291G>A
|
rs886062445
|
|
NM_001395413.1(POR):c.*306G>A
|
rs17685
|
|
NM_001395413.1(POR):c.*40T>G
|
rs1789485173
|
|
NM_001395413.1(POR):c.-14+8C>G
|
rs1040331805
|
|
NM_001395413.1(POR):c.-14G>A
|
rs886062438
|
|
NM_001395413.1(POR):c.-14G>T
|
rs886062438
|
|
NM_001395413.1(POR):c.1000C>T (p.Leu334=)
|
|
|
NM_001395413.1(POR):c.1020del (p.Asp341fs)
|
|
|
NM_001395413.1(POR):c.1023C>T (p.Asp341=)
|
|
|
NM_001395413.1(POR):c.102C>T (p.Ile34=)
|
rs371758475
|
|
NM_001395413.1(POR):c.1032C>T (p.Val344=)
|
|
|
NM_001395413.1(POR):c.1044G>A (p.Leu348=)
|
rs782369494
|
|
NM_001395413.1(POR):c.1044del (p.Asn349fs)
|
|
|
NM_001395413.1(POR):c.1048A>C (p.Asn350His)
|
|
|
NM_001395413.1(POR):c.1051C>T (p.Leu351=)
|
|
|
NM_001395413.1(POR):c.1053G>A (p.Leu351=)
|
|
|
NM_001395413.1(POR):c.1057+11C>G
|
|
|
NM_001395413.1(POR):c.1057+11_1057+12del
|
|
|
NM_001395413.1(POR):c.1057+12A>C
|
|
|
NM_001395413.1(POR):c.1057+17G>A
|
|
|
NM_001395413.1(POR):c.1057+18G>A
|
|
|
NM_001395413.1(POR):c.1058-4G>A
|
|
|
NM_001395413.1(POR):c.1068C>T (p.Asn356=)
|
|
|
NM_001395413.1(POR):c.1086G>A (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1086G>C (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1086G>T (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1089C>T (p.Cys363=)
|
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
NM_001395413.1(POR):c.1103G>A (p.Arg368His)
|
|
|
NM_001395413.1(POR):c.1103_1109del (p.Arg368fs)
|
|
|
NM_001395413.1(POR):c.1107G>A (p.Thr369=)
|
|
|
NM_001395413.1(POR):c.1107G>C (p.Thr369=)
|
|
|
NM_001395413.1(POR):c.1110C>T (p.Ala370=)
|
|
|
NM_001395413.1(POR):c.111C>T (p.Leu37=)
|
|
|
NM_001395413.1(POR):c.1125G>A (p.Leu375=)
|
rs112719660
|
|
NM_001395413.1(POR):c.1129A>G (p.Ile377Val)
|
|
|
NM_001395413.1(POR):c.1140G>A (p.Pro380=)
|
|
|
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
|
|
|
NM_001395413.1(POR):c.115del (p.Thr39fs)
|
|
|
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
|
|
|
NM_001395413.1(POR):c.1169C>T (p.Ala390Val)
|
|
|
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
|
|
|
NM_001395413.1(POR):c.1172del (p.Gln391fs)
|
|
|
NM_001395413.1(POR):c.1178CCTCGGAGC[1] (p.Pro396_Glu398del)
|
|
|
NM_001395413.1(POR):c.1181C>T (p.Ser394Leu)
|
|
|
NM_001395413.1(POR):c.1182G>A (p.Ser394=)
|
rs72557928
|
|
NM_001395413.1(POR):c.1182G>T (p.Ser394=)
|
|
|
NM_001395413.1(POR):c.1188C>T (p.Pro396=)
|
|
|
NM_001395413.1(POR):c.1194G>A (p.Glu398=)
|
|
|
NM_001395413.1(POR):c.1201C>T (p.Leu401=)
|
|
|
NM_001395413.1(POR):c.1209C>G (p.Arg403=)
|
|
|
NM_001395413.1(POR):c.1218C>G (p.Ala406=)
|
|
|
NM_001395413.1(POR):c.1224C>G (p.Ser408=)
|
|
|
NM_001395413.1(POR):c.1224C>T (p.Ser408=)
|
|
|
NM_001395413.1(POR):c.1231G>T (p.Glu411Ter)
|
|
|
NM_001395413.1(POR):c.1236C>T (p.Gly412=)
|
rs1220545486
|
|
NM_001395413.1(POR):c.1239+10_1239+33del
|
rs782146699
|
|
NM_001395413.1(POR):c.1239+10del
|
rs797045899
|
|
NM_001395413.1(POR):c.1239+11_1239+19del
|
rs782775039
|
|
NM_001395413.1(POR):c.1239+14_1239+22del
|
|
|
NM_001395413.1(POR):c.1239+15C>T
|
|
|
NM_001395413.1(POR):c.1239+16C>T
|
|
|
NM_001395413.1(POR):c.1239+17C>T
|
|
|
NM_001395413.1(POR):c.1239+18C>T
|
|
|
NM_001395413.1(POR):c.1239+19C>T
|
|
|
NM_001395413.1(POR):c.1239+1G>C
|
rs782168868
|
|
NM_001395413.1(POR):c.1239+1G>T
|
|
|
NM_001395413.1(POR):c.1239+2T>G
|
|
|
NM_001395413.1(POR):c.1240-11G>A
|
|
|
NM_001395413.1(POR):c.1240-11G>C
|
|
|
NM_001395413.1(POR):c.1240-12C>T
|
rs1208139617
|
|
NM_001395413.1(POR):c.1240-14C>A
|
|
|
NM_001395413.1(POR):c.1240-15C>T
|
|
|
NM_001395413.1(POR):c.1240-2A>G
|
|
|
NM_001395413.1(POR):c.1240-5C>T
|
rs2116624933
|
|
NM_001395413.1(POR):c.1240-7C>T
|
|
|
NM_001395413.1(POR):c.1245G>T (p.Leu415=)
|
|
|
NM_001395413.1(POR):c.1251G>C (p.Leu417=)
|
|
|
NM_001395413.1(POR):c.1254C>T (p.Ser418=)
|
rs1392235928
|
|
NM_001395413.1(POR):c.1287C>A (p.Ala429=)
|
|
|
NM_001395413.1(POR):c.1307C>T (p.Ser436Phe)
|
rs1789345072
|
|
NM_001395413.1(POR):c.1320C>T (p.Pro440=)
|
|
|
NM_001395413.1(POR):c.1320del (p.Ile441fs)
|
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
|
|
|
NM_001395413.1(POR):c.1337_1338dup (p.Leu447fs)
|
|
|
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
|
|
|
NM_001395413.1(POR):c.1349G>A (p.Arg450His)
|
|
|
NM_001395413.1(POR):c.1353G>C (p.Leu451=)
|
|
|
NM_001395413.1(POR):c.1356G>A (p.Gln452=)
|
|
|
NM_001395413.1(POR):c.1359C>T (p.Ala453=)
|
|
|
NM_001395413.1(POR):c.1375G>C (p.Ala459Pro)
|
rs72557936
|
|
NM_001395413.1(POR):c.1380A>G (p.Ser460=)
|
|
|
NM_001395413.1(POR):c.1386C>T (p.Ser462=)
|
|
|
NM_001395413.1(POR):c.1389+12C>T
|
|
|
NM_001395413.1(POR):c.1389+18C>G
|
|
|
NM_001395413.1(POR):c.1389+19C>T
|
|
|
NM_001395413.1(POR):c.1389+1G>A
|
|
|
NM_001395413.1(POR):c.1389+1G>C
|
|
|
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
|
|
|
NM_001395413.1(POR):c.1390-12C>G
|
|
|
NM_001395413.1(POR):c.1390-15C>T
|
|
|
NM_001395413.1(POR):c.1390-4A>C
|
|
|
NM_001395413.1(POR):c.1390-5C>A
|
|
|
NM_001395413.1(POR):c.1392C>A (p.Val464=)
|
|
|
NM_001395413.1(POR):c.1395C>T (p.His465=)
|
|
|
NM_001395413.1(POR):c.1398C>T (p.Pro466=)
|
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001395413.1(POR):c.1406_1407del (p.Val469fs)
|
rs782395275
|
|
NM_001395413.1(POR):c.1410C>T (p.His470=)
|
|
|
NM_001395413.1(POR):c.1422G>C (p.Val474=)
|
|
|
NM_001395413.1(POR):c.1428G>A (p.Val476=)
|
|
|
NM_001395413.1(POR):c.1428G>C (p.Val476=)
|
|
|
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)
|
rs373613946
|
|
NM_001395413.1(POR):c.1434C>G (p.Tyr478Ter)
|
|
|
NM_001395413.1(POR):c.1434C>T (p.Tyr478=)
|
|
|
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del)
|
rs72553987
|
|
NM_001395413.1(POR):c.1442_1446del (p.Lys481fs)
|
|
|
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
|
|
|
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
|
|
|
NM_001395413.1(POR):c.1464C>T (p.Gly488=)
|
|
|
NM_001395413.1(POR):c.1470C>G (p.Ala490=)
|
|
|
NM_001395413.1(POR):c.1470C>T (p.Ala490=)
|
|
|
NM_001395413.1(POR):c.1482G>A (p.Leu494=)
|
rs370326231
|
|
NM_001395413.1(POR):c.1483C>T (p.Arg495Trp)
|
|
|
NM_001395413.1(POR):c.1492G>T (p.Glu498Ter)
|
|
|
NM_001395413.1(POR):c.1500C>T (p.Ala500=)
|
|
|
NM_001395413.1(POR):c.1501G>A (p.Gly501Arg)
|
|
|
NM_001395413.1(POR):c.1504G>A (p.Glu502Lys)
|
rs377159530
|
|
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
|
|
|
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
|
|
|
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser)
|
rs547817208
|
|
NM_001395413.1(POR):c.1519_1561dup (p.Pro521fs)
|
|
|
NM_001395413.1(POR):c.1523_1542dup (p.Lys515fs)
|
|
|
NM_001395413.1(POR):c.1524G>A (p.Leu508=)
|
|
|
NM_001395413.1(POR):c.1530C>T (p.Pro510=)
|
|
|
NM_001395413.1(POR):c.1536C>T (p.Phe512=)
|
|
|
NM_001395413.1(POR):c.153C>T (p.Val51=)
|
|
|
NM_001395413.1(POR):c.1541G>A (p.Arg514His)
|
|
|
NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)
|
|
|
NM_001395413.1(POR):c.1548C>T (p.Ser516=)
|
|
|
NM_001395413.1(POR):c.1562_1610dup (p.Ala538fs)
|
rs1563435458
|
|
NM_001395413.1(POR):c.1563C>T (p.Pro521=)
|
|
|
NM_001395413.1(POR):c.156C>T (p.Pro52=)
|
rs782368623
|
|
NM_001395413.1(POR):c.1572C>T (p.Ala524=)
|
|
|
NM_001395413.1(POR):c.1575C>A (p.Thr525=)
|
|
|
NM_001395413.1(POR):c.1577C>T (p.Thr526Met)
|
rs782248163
|
|
NM_001395413.1(POR):c.1584CAT[1] (p.Ile529del)
|
|
|
NM_001395413.1(POR):c.1593G>T (p.Val531=)
|
|
|
NM_001395413.1(POR):c.1599C>T (p.Pro533=)
|
|
|
NM_001395413.1(POR):c.15C>T (p.His5=)
|
|
|
NM_001395413.1(POR):c.1600G>A (p.Gly534Ser)
|
rs569673150
|
|
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg)
|
rs569673150
|
|
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
|
|
|
NM_001395413.1(POR):c.1613dup (p.Pro539fs)
|
|
|
NM_001395413.1(POR):c.1623A>C (p.Ile541=)
|
|
|
NM_001395413.1(POR):c.1623A>T (p.Ile541=)
|
|
|
NM_001395413.1(POR):c.1629C>T (p.Phe543=)
|
|
|
NM_001395413.1(POR):c.1631_1634del (p.Ile544fs)
|
|
|
NM_001395413.1(POR):c.1638G>A (p.Glu546=)
|
|
|
NM_001395413.1(POR):c.1647_1660+15del
|
|
|
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
|
|
|
NM_001395413.1(POR):c.1660+10G>T
|
|
|
NM_001395413.1(POR):c.1660+10dup
|
|
|
NM_001395413.1(POR):c.1660+12C>A
|
|
|
NM_001395413.1(POR):c.1660+16T>C
|
|
|
NM_001395413.1(POR):c.1660+16T>G
|
|
|
NM_001395413.1(POR):c.1660+17G>A
|
|
|
NM_001395413.1(POR):c.1660+17G>C
|
|
|
NM_001395413.1(POR):c.1660+8G>C
|
|
|
NM_001395413.1(POR):c.1660+9G>A
|
rs1554559215
|
|
NM_001395413.1(POR):c.1661-10T>G
|
|
|
NM_001395413.1(POR):c.1661-13C>T
|
|
|
NM_001395413.1(POR):c.1661-19C>T
|
|
|
NM_001395413.1(POR):c.1661-2A>G
|
|
|
NM_001395413.1(POR):c.1661-5C>T
|
|
|
NM_001395413.1(POR):c.1661-7C>A
|
|
|
NM_001395413.1(POR):c.1661-7C>G
|
|
|
NM_001395413.1(POR):c.1671G>T (p.Val557=)
|
|
|
NM_001395413.1(POR):c.1674G>A (p.Gly558=)
|
|
|
NM_001395413.1(POR):c.1675dup (p.Glu559fs)
|
|
|
NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs)
|
rs781914230
|
|
NM_001395413.1(POR):c.1680G>A (p.Thr560=)
|
|
|
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
|
|
|
NM_001395413.1(POR):c.1690_1691dup (p.Gly565fs)
|
|
|
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
|
|
|
NM_001395413.1(POR):c.1713G>C (p.Glu571Asp)
|
rs1414093729
|
|
NM_001395413.1(POR):c.1714G>A (p.Asp572Asn)
|
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
NM_001395413.1(POR):c.1722G>A (p.Leu574=)
|
rs1554559285
|
|
NM_001395413.1(POR):c.1725C>T (p.Tyr575=)
|
|
|
NM_001395413.1(POR):c.1731G>A (p.Glu577=)
|
|
|
NM_001395413.1(POR):c.1740G>A (p.Ala580=)
|
|
|
NM_001395413.1(POR):c.1752G>A (p.Arg584=)
|
|
|
NM_001395413.1(POR):c.1761G>A (p.Ala587=)
|
|
|
NM_001395413.1(POR):c.1767C>A (p.Thr589=)
|
|
|
NM_001395413.1(POR):c.1773C>T (p.Leu591=)
|
|
|
NM_001395413.1(POR):c.1776C>G (p.Asn592Lys)
|
|
|
NM_001395413.1(POR):c.1782C>T (p.Ala594=)
|
|
|
NM_001395413.1(POR):c.1785C>T (p.Phe595=)
|
|
|
NM_001395413.1(POR):c.179+10G>A
|
|
|
NM_001395413.1(POR):c.179+14C>G
|
|
|
NM_001395413.1(POR):c.179+14C>T
|
|
|
NM_001395413.1(POR):c.179+15_179+16del
|
|
|
NM_001395413.1(POR):c.179+16C>G
|
|
|
NM_001395413.1(POR):c.179+9C>T
|
|
|
NM_001395413.1(POR):c.1791G>A (p.Arg597=)
|
|
|
NM_001395413.1(POR):c.1792del (p.Glu598fs)
|
|
|
NM_001395413.1(POR):c.1795C>T (p.Gln599Ter)
|
|
|
NM_001395413.1(POR):c.180-15_180-14del
|
|
|
NM_001395413.1(POR):c.180-18C>T
|
|
|
NM_001395413.1(POR):c.180-5T>C
|
|
|
NM_001395413.1(POR):c.180-8T>C
|
|
|
NM_001395413.1(POR):c.1806+10G>T
|
|
|
NM_001395413.1(POR):c.1806+11C>T
|
|
|
NM_001395413.1(POR):c.1806+15C>A
|
|
|
NM_001395413.1(POR):c.1806+15C>G
|
|
|
NM_001395413.1(POR):c.1806+9G>C
|
|
|
NM_001395413.1(POR):c.1807-15C>T
|
|
|
NM_001395413.1(POR):c.1807-1G>A
|
|
|
NM_001395413.1(POR):c.1807-2A>C
|
|
|
NM_001395413.1(POR):c.1807-4C>T
|
|
|
NM_001395413.1(POR):c.1807-8G>C
|
|
|
NM_001395413.1(POR):c.1809C>G (p.Val603=)
|
|
|
NM_001395413.1(POR):c.1812C>T (p.Tyr604=)
|
|
|
NM_001395413.1(POR):c.1813G>A (p.Val605Ile)
|
|
|
NM_001395413.1(POR):c.1813G>T (p.Val605Phe)
|
rs72552772
|
|
NM_001395413.1(POR):c.1815C>G (p.Val605=)
|
|
|
NM_001395413.1(POR):c.1815C>T (p.Val605=)
|
|
|
NM_001395413.1(POR):c.1818G>A (p.Gln606=)
|
|
|
NM_001395413.1(POR):c.1825C>T (p.Leu609=)
|
|
|
NM_001395413.1(POR):c.1830G>A (p.Lys610=)
|
|
|
NM_001395413.1(POR):c.1840G>A (p.Glu614Lys)
|
rs771477130
|
|
NM_001395413.1(POR):c.1851G>T (p.Trp617Cys)
|
|
|
NM_001395413.1(POR):c.1855T>C (p.Leu619=)
|
|
|
NM_001395413.1(POR):c.1860C>A (p.Ile620=)
|
rs553145252
|
|
NM_001395413.1(POR):c.1860C>T (p.Ile620=)
|
|
|
NM_001395413.1(POR):c.1866C>T (p.Gly622=)
|
|
|
NM_001395413.1(POR):c.1869T>C (p.Gly623=)
|
|
|
NM_001395413.1(POR):c.186C>G (p.Ser62=)
|
|
|
NM_001395413.1(POR):c.1874A>C (p.His625Pro)
|
|
|
NM_001395413.1(POR):c.1889+14dup
|
|
|
NM_001395413.1(POR):c.1889+7G>A
|
|
|
NM_001395413.1(POR):c.1889+8A>C
|
|
|
NM_001395413.1(POR):c.1889+8_1889+11del
|
rs782708898
|
|
NM_001395413.1(POR):c.1889+9G>T
|
rs782024811
|
|
NM_001395413.1(POR):c.1890-11T>A
|
|
|
NM_001395413.1(POR):c.1890-12_1890-11del
|
|
|
NM_001395413.1(POR):c.1890-12dup
|
|
|
NM_001395413.1(POR):c.1890-13T>C
|
|
|
NM_001395413.1(POR):c.1890-14C>G
|
|
|
NM_001395413.1(POR):c.1890-17C>A
|
|
|
NM_001395413.1(POR):c.1890-19A>C
|
|
|
NM_001395413.1(POR):c.1890-20C>T
|
|
|
NM_001395413.1(POR):c.1890-6G>A
|
|
|
NM_001395413.1(POR):c.1890-8C>T
|
|
|
NM_001395413.1(POR):c.1896A>T (p.Ala632=)
|
|
|
NM_001395413.1(POR):c.1897C>A (p.Arg633=)
|
|
|
NM_001395413.1(POR):c.1923C>A (p.Asn641Lys)
|
rs781793669
|
|
NM_001395413.1(POR):c.1923C>T (p.Asn641=)
|
|
|
NM_001395413.1(POR):c.1932C>T (p.Tyr644=)
|
|
|
NM_001395413.1(POR):c.1935C>T (p.Asp645=)
|
|
|
NM_001395413.1(POR):c.1938C>T (p.Ile646=)
|
|
|
NM_001395413.1(POR):c.1950C>A (p.Leu650=)
|
|
|
NM_001395413.1(POR):c.1953G>A (p.Gly651=)
|
|
|
NM_001395413.1(POR):c.1956C>T (p.Ala652=)
|
|
|
NM_001395413.1(POR):c.1965C>G (p.His655Gln)
|
rs782143954
|
|
NM_001395413.1(POR):c.1965C>T (p.His655=)
|
|
|
NM_001395413.1(POR):c.1968G>T (p.Ala656=)
|
|
|
NM_001395413.1(POR):c.1977G>A (p.Val659=)
|
|
|
NM_001395413.1(POR):c.1980C>T (p.Asp660=)
|
|
|
NM_001395413.1(POR):c.1992del (p.Lys664fs)
|
|
|
NM_001395413.1(POR):c.1995G>A (p.Leu665=)
|
|
|
NM_001395413.1(POR):c.2002A>G (p.Lys668Glu)
|
|
|
NM_001395413.1(POR):c.2010C>A (p.Arg670=)
|
|
|
NM_001395413.1(POR):c.2010C>T (p.Arg670=)
|
|
|
NM_001395413.1(POR):c.2022C>T (p.Asp674=)
|
|
|
NM_001395413.1(POR):c.2025G>A (p.Val675=)
|
|
|
NM_001395413.1(POR):c.2031C>T (p.Ser677=)
|
|
|
NM_001395413.1(POR):c.207T>G (p.Phe69Leu)
|
|
|
NM_001395413.1(POR):c.226A>G (p.Thr76Ala)
|
rs1788485288
|
|
NM_001395413.1(POR):c.228+14A>G
|
|
|
NM_001395413.1(POR):c.228+20T>C
|
|
|
NM_001395413.1(POR):c.228+20T>G
|
|
|
NM_001395413.1(POR):c.229-10C>T
|
|
|
NM_001395413.1(POR):c.229-11G>A
|
|
|
NM_001395413.1(POR):c.229-13C>T
|
|
|
NM_001395413.1(POR):c.229-15G>A
|
|
|
NM_001395413.1(POR):c.229-15_229-14del
|
|
|
NM_001395413.1(POR):c.229-16T>G
|
|
|
NM_001395413.1(POR):c.229-17G>A
|
|
|
NM_001395413.1(POR):c.229-19C>G
|
|
|
NM_001395413.1(POR):c.229-19C>T
|
|
|
NM_001395413.1(POR):c.229-19_229-18del
|
|
|
NM_001395413.1(POR):c.229-1G>A
|
|
|
NM_001395413.1(POR):c.229-2A>G
|
|
|
NM_001395413.1(POR):c.229-3T>C
|
|
|
NM_001395413.1(POR):c.229-8T>C
|
|
|
NM_001395413.1(POR):c.229-9C>G
|
|
|
NM_001395413.1(POR):c.236A>T (p.Asn79Ile)
|
|
|
NM_001395413.1(POR):c.237C>T (p.Asn79=)
|
rs1585126959
|
|
NM_001395413.1(POR):c.240C>A (p.Ile80=)
|
|
|
NM_001395413.1(POR):c.243C>T (p.Ile81=)
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|
|
NM_001395413.1(POR):c.246G>T (p.Val82=)
|
|
|
NM_001395413.1(POR):c.251dup (p.Tyr84Ter)
|
|
|
NM_001395413.1(POR):c.252C>T (p.Tyr84=)
|
|
|
NM_001395413.1(POR):c.259C>T (p.Gln87Ter)
|
|
|
NM_001395413.1(POR):c.263C>T (p.Thr88Met)
|
|
|
NM_001395413.1(POR):c.264G>A (p.Thr88=)
|
|
|
NM_001395413.1(POR):c.270T>C (p.Thr90=)
|
|
|
NM_001395413.1(POR):c.272C>T (p.Ala91Val)
|
|
|
NM_001395413.1(POR):c.285C>T (p.Ala95=)
|
rs1554557307
|
|
NM_001395413.1(POR):c.291C>A (p.Arg97=)
|
|
|
NM_001395413.1(POR):c.295T>C (p.Ser99Pro)
|
|
|
NM_001395413.1(POR):c.300G>A (p.Lys100=)
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|
|
NM_001395413.1(POR):c.303C>T (p.Asp101=)
|
|
|
NM_001395413.1(POR):c.304G>A (p.Ala102Thr)
|
|
|
NM_001395413.1(POR):c.310C>T (p.Arg104Cys)
|
|
|
NM_001395413.1(POR):c.322C>T (p.Arg108Ter)
|
rs1181572912
|
|
NM_001395413.1(POR):c.323G>A (p.Arg108Gln)
|
|
|
NM_001395413.1(POR):c.336G>A (p.Ala112=)
|
|
|
NM_001395413.1(POR):c.33C>T (p.Thr11=)
|
|
|
NM_001395413.1(POR):c.345G>A (p.Glu115=)
|
|
|
NM_001395413.1(POR):c.348G>A (p.Glu116=)
|
|
|
NM_001395413.1(POR):c.357+13C>T
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|
NM_001395413.1(POR):c.357+15C>T
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|
NM_001395413.1(POR):c.357+16G>A
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|
NM_001395413.1(POR):c.357+16G>T
|
rs782083860
|
|
NM_001395413.1(POR):c.357+18G>A
|
|
|
NM_001395413.1(POR):c.357+18G>C
|
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|
NM_001395413.1(POR):c.357+8G>A
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|
NM_001395413.1(POR):c.358-12_358-11del
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|
|
NM_001395413.1(POR):c.358-14C>G
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|
NM_001395413.1(POR):c.358-18C>G
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NM_001395413.1(POR):c.358-5T>C
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|
NM_001395413.1(POR):c.358-9_358-4del
|
|
|
NM_001395413.1(POR):c.364C>T (p.Leu122=)
|
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|
NM_001395413.1(POR):c.366G>A (p.Leu122=)
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|
|
NM_001395413.1(POR):c.369C>G (p.Ser123Arg)
|
rs2116587581
|
|
NM_001395413.1(POR):c.36G>A (p.Val12=)
|
rs781862803
|
|
NM_001395413.1(POR):c.371G>A (p.Ser124Asn)
|
|
|
NM_001395413.1(POR):c.384C>T (p.Ile128=)
|
rs782166276
|
|
NM_001395413.1(POR):c.385G>A (p.Asp129Asn)
|
rs554865831
|
|
NM_001395413.1(POR):c.385_386dup (p.Asp129fs)
|
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|
NM_001395413.1(POR):c.386del (p.Asp129fs)
|
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|
NM_001395413.1(POR):c.39C>T (p.Ser13=)
|
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|
NM_001395413.1(POR):c.408C>T (p.Cys136=)
|
|
|
NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
|
|
|
NM_001395413.1(POR):c.423T>C (p.Gly141=)
|
|
|
NM_001395413.1(POR):c.426G>C (p.Glu142Asp)
|
|
|
NM_001395413.1(POR):c.447C>T (p.Ala149=)
|
|
|
NM_001395413.1(POR):c.44C>T (p.Ala15Val)
|
|
|
NM_001395413.1(POR):c.450G>A (p.Gln150=)
|
|
|
NM_001395413.1(POR):c.453C>T (p.Asp151=)
|
|
|
NM_001395413.1(POR):c.458del (p.Tyr153fs)
|
|
|
NM_001395413.1(POR):c.459C>T (p.Tyr153=)
|
|
|
NM_001395413.1(POR):c.477A>G (p.Thr159=)
|
|
|
NM_001395413.1(POR):c.480C>T (p.Asp160=)
|
|
|
NM_001395413.1(POR):c.481G>A (p.Val161Met)
|
rs200112691
|
|
NM_001395413.1(POR):c.483G>A (p.Val161=)
|
|
|
NM_001395413.1(POR):c.485A>C (p.Asp162Ala)
|
|
|
NM_001395413.1(POR):c.498C>T (p.Val166=)
|
|
|
NM_001395413.1(POR):c.504C>G (p.Phe168Leu)
|
rs372715546
|
|
NM_001395413.1(POR):c.507+15_507+16del
|
rs368249506
|
|
NM_001395413.1(POR):c.507+18T>G
|
|
|
NM_001395413.1(POR):c.507G>A (p.Ala169=)
|
|
|
NM_001395413.1(POR):c.508-13T>C
|
|
|
NM_001395413.1(POR):c.508-19G>A
|
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NM_001395413.1(POR):c.508-19G>T
|
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|
NM_001395413.1(POR):c.508-5C>T
|
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|
NM_001395413.1(POR):c.508-7C>T
|
|
|
NM_001395413.1(POR):c.511T>A (p.Phe171Ile)
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|
NM_001395413.1(POR):c.514G>A (p.Gly172Ser)
|
|
|
NM_001395413.1(POR):c.516T>C (p.Gly172=)
|
|
|
NM_001395413.1(POR):c.519T>C (p.Leu173=)
|
|
|
NM_001395413.1(POR):c.51C>G (p.Ala17=)
|
|
|
NM_001395413.1(POR):c.51C>T (p.Ala17=)
|
|
|
NM_001395413.1(POR):c.522G>C (p.Gly174=)
|
|
|
NM_001395413.1(POR):c.529A>G (p.Thr177Ala)
|
|
|
NM_001395413.1(POR):c.530C>G (p.Thr177Ser)
|
rs2116593920
|
|
NM_001395413.1(POR):c.531C>T (p.Thr177=)
|
rs782409308
|
|
NM_001395413.1(POR):c.532T>G (p.Tyr178Asp)
|
rs72552771
|
|
NM_001395413.1(POR):c.534C>T (p.Tyr178=)
|
|
|
NM_001395413.1(POR):c.540C>T (p.His180=)
|
|
|
NM_001395413.1(POR):c.546T>C (p.Asn182=)
|
|
|
NM_001395413.1(POR):c.549C>T (p.Ala183=)
|
|
|
NM_001395413.1(POR):c.552G>T (p.Met184Ile)
|
rs1554557749
|
|
NM_001395413.1(POR):c.561C>T (p.Tyr187=)
|
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
NM_001395413.1(POR):c.562G>C (p.Val188Leu)
|
rs201513102
|
|
NM_001395413.1(POR):c.579G>C (p.Glu193Asp)
|
|
|
NM_001395413.1(POR):c.585C>T (p.Leu195=)
|
|
|
NM_001395413.1(POR):c.588C>A (p.Gly196=)
|
|
|
NM_001395413.1(POR):c.5G>C (p.Gly2Ala)
|
|
|
NM_001395413.1(POR):c.600C>T (p.Ile200=)
|
|
|
NM_001395413.1(POR):c.604G>C (p.Glu202Gln)
|
rs1585129186
|
|
NM_001395413.1(POR):c.60A>G (p.Val20=)
|
|
|
NM_001395413.1(POR):c.612G>A (p.Gly204=)
|
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
NM_001395413.1(POR):c.618C>T (p.Gly206=)
|
|
|
NM_001395413.1(POR):c.621C>T (p.Asp207=)
|
|
|
NM_001395413.1(POR):c.624C>T (p.Asp208=)
|
|
|
NM_001395413.1(POR):c.625G>C (p.Asp209His)
|
rs374707345
|
|
NM_001395413.1(POR):c.632+11A>G
|
|
|
NM_001395413.1(POR):c.632+14C>A
|
|
|
NM_001395413.1(POR):c.632+15T>C
|
rs2116595459
|
|
NM_001395413.1(POR):c.632+18C>T
|
|
|
NM_001395413.1(POR):c.632+7G>A
|
|
|
NM_001395413.1(POR):c.633-12T>C
|
|
|
NM_001395413.1(POR):c.633-14T>G
|
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|
NM_001395413.1(POR):c.633-16C>G
|
|
|
NM_001395413.1(POR):c.633-20C>A
|
|
|
NM_001395413.1(POR):c.633-20C>G
|
rs368640263
|
|
NM_001395413.1(POR):c.633-20C>T
|
|
|
NM_001395413.1(POR):c.633-7G>C
|
|
|
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del)
|
rs782434696
|
|
NM_001395413.1(POR):c.646T>G (p.Phe216Val)
|
rs1789043381
|
|
NM_001395413.1(POR):c.64_65del (p.Leu22fs)
|
|
|
NM_001395413.1(POR):c.651C>T (p.Ile217=)
|
|
|
NM_001395413.1(POR):c.658C>A (p.Arg220=)
|
|
|
NM_001395413.1(POR):c.658C>T (p.Arg220Ter)
|
|
|
NM_001395413.1(POR):c.681G>T (p.Val227=)
|
|
|
NM_001395413.1(POR):c.697del (p.Val233fs)
|
|
|
NM_001395413.1(POR):c.711C>G (p.Gly237=)
|
|
|
NM_001395413.1(POR):c.722+10T>C
|
|
|
NM_001395413.1(POR):c.722+14C>T
|
|
|
NM_001395413.1(POR):c.722+15G>A
|
|
|
NM_001395413.1(POR):c.722+15G>T
|
|
|
NM_001395413.1(POR):c.722+17A>G
|
|
|
NM_001395413.1(POR):c.722+18G>A
|
|
|
NM_001395413.1(POR):c.722+8A>C
|
|
|
NM_001395413.1(POR):c.723-11C>G
|
|
|
NM_001395413.1(POR):c.723-11C>T
|
|
|
NM_001395413.1(POR):c.723-15dup
|
|
|
NM_001395413.1(POR):c.723-16G>C
|
|
|
NM_001395413.1(POR):c.723-7T>G
|
|
|
NM_001395413.1(POR):c.723-9C>T
|
|
|
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)
|
|
|
NM_001395413.1(POR):c.738G>A (p.Glu246=)
|
|
|
NM_001395413.1(POR):c.753C>G (p.Thr251=)
|
|
|
NM_001395413.1(POR):c.753C>T (p.Thr251=)
|
|
|
NM_001395413.1(POR):c.765G>A (p.Ala255=)
|
|
|
NM_001395413.1(POR):c.765G>C (p.Ala255=)
|
|
|
NM_001395413.1(POR):c.768C>T (p.Ala256=)
|
|
|
NM_001395413.1(POR):c.768del (p.Lys257fs)
|
|
|
NM_001395413.1(POR):c.771G>A (p.Lys257=)
|
|
|
NM_001395413.1(POR):c.774G>T (p.Val258=)
|
|
|
NM_001395413.1(POR):c.779T>G (p.Met260Arg)
|
|
|
NM_001395413.1(POR):c.77C>T (p.Thr26Met)
|
|
|
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
|
|
|
NM_001395413.1(POR):c.793C>A (p.Arg265=)
|
|
|
NM_001395413.1(POR):c.798G>T (p.Leu266=)
|
|
|
NM_001395413.1(POR):c.804C>A (p.Ser268Arg)
|
rs201598971
|
|
NM_001395413.1(POR):c.804C>T (p.Ser268=)
|
rs201598971
|
|
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
|
|
|
NM_001395413.1(POR):c.808G>A (p.Glu270Lys)
|
|
|
NM_001395413.1(POR):c.810G>A (p.Glu270=)
|
|
|
NM_001395413.1(POR):c.813C>T (p.Asn271=)
|
|
|
NM_001395413.1(POR):c.815A>G (p.Gln272Arg)
|
rs201697814
|
|
NM_001395413.1(POR):c.821+10G>C
|
|
|
NM_001395413.1(POR):c.821+13del
|
|
|
NM_001395413.1(POR):c.821+16G>A
|
|
|
NM_001395413.1(POR):c.821+17T>C
|
|
|
NM_001395413.1(POR):c.821+18G>T
|
|
|
NM_001395413.1(POR):c.821+1G>A
|
|
|
NM_001395413.1(POR):c.821+20C>T
|
|
|
NM_001395413.1(POR):c.821+2_821+3del
|
|
|
NM_001395413.1(POR):c.821+9A>G
|
|
|
NM_001395413.1(POR):c.821+9_821+24del
|
|
|
NM_001395413.1(POR):c.822-11T>C
|
|
|
NM_001395413.1(POR):c.822-11_822-9del
|
rs782696938
|
|
NM_001395413.1(POR):c.822-4C>G
|
|
|
NM_001395413.1(POR):c.822-5C>T
|
|
|
NM_001395413.1(POR):c.828del (p.Phe276fs)
|
|
|
NM_001395413.1(POR):c.834C>T (p.Ala278=)
|
|
|
NM_001395413.1(POR):c.837G>A (p.Lys279=)
|
|
|
NM_001395413.1(POR):c.843G>A (p.Pro281=)
|
|
|
NM_001395413.1(POR):c.855A>G (p.Ala285=)
|
|
|
NM_001395413.1(POR):c.858C>A (p.Val286=)
|
|
|
NM_001395413.1(POR):c.874C>T (p.Leu292=)
|
|
|
NM_001395413.1(POR):c.87T>C (p.Ile29=)
|
|
|
NM_001395413.1(POR):c.891G>C (p.Glu297Asp)
|
|
|
NM_001395413.1(POR):c.913T>C (p.Leu305=)
|
|
|
NM_001395413.1(POR):c.924G>A (p.Ser308=)
|
|
|
NM_001395413.1(POR):c.924G>C (p.Ser308=)
|
rs782746771
|
|
NM_001395413.1(POR):c.930C>T (p.Ser310=)
|
|
|
NM_001395413.1(POR):c.936C>T (p.Ile312=)
|
|
|
NM_001395413.1(POR):c.938+13A>G
|
|
|
NM_001395413.1(POR):c.938+16G>A
|
|
|
NM_001395413.1(POR):c.938+18C>T
|
|
|
NM_001395413.1(POR):c.938+22_938+24dup
|
|
|
NM_001395413.1(POR):c.938+23_938+24del
|
|
|
NM_001395413.1(POR):c.938+7G>A
|
|
|
NM_001395413.1(POR):c.939-14A>C
|
rs886062441
|
|
NM_001395413.1(POR):c.939-20A>G
|
|
|
NM_001395413.1(POR):c.939-21_939-17del
|
|
|
NM_001395413.1(POR):c.939-6C>A
|
|
|
NM_001395413.1(POR):c.939-6C>T
|
|
|
NM_001395413.1(POR):c.955C>T (p.His319Tyr)
|
|
|
NM_001395413.1(POR):c.955dup (p.His319fs)
|
|
|
NM_001395413.1(POR):c.957C>T (p.His319=)
|
|
|
NM_001395413.1(POR):c.96G>A (p.Ser32=)
|
|
|
NM_001395413.1(POR):c.981_988dup (p.Leu330fs)
|
|
|
NM_001395413.1(POR):c.984T>C (p.Ser328=)
|
|
|
NM_001395413.1(POR):c.985G>A (p.Ala329Thr)
|
rs1469610345
|
|
NM_001395413.1(POR):c.993C>G (p.Val331=)
|
|
|
NM_005149.3(TBX19):c.210G>T (p.Met70Ile)
|
rs1558190316
|
|
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe)
|
rs1558190989
|
|
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs)
|
rs758790391
|
|
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val)
|
rs368359642
|
|
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)
|
rs2146120283
|
|
NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg)
|
rs76079250
|
|
NM_006440.5(TXNRD2):c.949+437del
|
rs35599379
|
|
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)
|
rs397518461
|
|
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
|
|
|
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
|
|
|
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
|
|
|
NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)
|
|
|
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
|
|
|
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
|
|
|
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)
|
rs1694593071
|
|
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)
|
rs748973371
|
|
NM_013335.4(GMPPA):c.1173C>T (p.Val391=)
|
|
|
NM_013335.4(GMPPA):c.117C>T (p.His39=)
|
|
|
NM_013335.4(GMPPA):c.1185C>T (p.Ala395=)
|
|
|
NM_013335.4(GMPPA):c.118del (p.His40fs)
|
|
|
NM_013335.4(GMPPA):c.12G>A (p.Ala4=)
|
rs1335428636
|
|
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
|
|
|
NM_013335.4(GMPPA):c.210del (p.Ala71fs)
|
rs886037654
|
|
NM_013335.4(GMPPA):c.243-17C>T
|
|
|
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)
|
rs2125629897
|
|
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
|
|
|
NM_013335.4(GMPPA):c.41-16C>T
|
|
|
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)
|
rs1186293652
|
|
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
|
|
|
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
|
rs36029384
|
|
NM_013335.4(GMPPA):c.486C>T (p.His162=)
|
rs36029384
|
|
NM_013335.4(GMPPA):c.490-16C>A
|
rs995824237
|
|
NM_013335.4(GMPPA):c.490-18A>G
|
|
|
NM_013335.4(GMPPA):c.490-6C>T
|
|
|
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)
|
rs397518462
|
|
NM_013335.4(GMPPA):c.561T>C (p.Ser187=)
|
|
|
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)
|
rs773715630
|
|
NM_013335.4(GMPPA):c.621-9C>T
|
|
|
NM_013335.4(GMPPA):c.630A>T (p.Ser210=)
|
|
|
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)
|
rs2125639654
|
|
NM_013335.4(GMPPA):c.66T>C (p.Phe22=)
|
rs1575219520
|
|
NM_013335.4(GMPPA):c.756-18C>A
|
rs1694544584
|
|
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
|
|
|
NM_013335.4(GMPPA):c.853+1G>A
|
rs1553624347
|
|
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
|
|
|
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
|
|
|
NM_015665.5(AAAS):c.936_937delAG
|
rs1592513048
|
|
NM_015665.6(AAAS):c.-70T>C
|
rs186975061
|
|
NM_015665.6(AAAS):c.-84G>A
|
rs886049653
|
|
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)
|
rs765757844
|
|
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
|
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
|
|
|
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)
|
rs2121082201
|
|
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)
|
rs2121081165
|
|
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
|
|
|
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)
|
rs764298213
|
|
NM_015665.6(AAAS):c.1566C>T (p.Ser522=)
|
rs886049648
|
|
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)
|
rs886049647
|
|
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)
|
rs1114167372
|
|
NM_015665.6(AAAS):c.211del (p.His71fs)
|
rs765577880
|
|
NM_015665.6(AAAS):c.250del (p.Trp84fs)
|
rs2136820957
|
|
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)
|
rs749899811
|
|
NM_015665.6(AAAS):c.259G>T (p.Val87Leu)
|
rs766985003
|
|
NM_015665.6(AAAS):c.327G>A (p.Thr109=)
|
rs190876509
|
|
NM_015665.6(AAAS):c.399+1G>A
|
rs2136811976
|
|
NM_015665.6(AAAS):c.400-2A>G
|
rs1565781382
|
|
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
|
|
|
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)
|
rs774899476
|
|
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter)
|
rs758057774
|
|
NM_015665.6(AAAS):c.762del (p.Ser255fs)
|
rs746057093
|
|
NM_015665.6(AAAS):c.781_782del (p.Ala262fs)
|
rs2121089586
|
|
NM_015665.6(AAAS):c.810+1G>A
|
|
|
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)
|
rs1944347921
|
|
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)
|
rs1450008394
|
|
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
|
|
|
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)
|
rs774817639
|
|
NM_015665.6(AAAS):c.912T>G (p.Ala304=)
|
rs138749872
|
|
NM_015665.6(AAAS):c.936-2A>G
|
rs1565777639
|
|
NM_015665.6(AAAS):c.936-5C>T
|
rs1944343648
|
|
NM_015665.6(AAAS):c.980dup (p.Ser328fs)
|
rs387906326
|
|
NM_031925.3(TMEM120A):c.*313C>T
|
rs1554559685
|
|
NM_182977.3(NNT):c.1089del (p.Leu362_Tyr363insTer)
|
|
|
NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)
|
rs786205345
|
|
NM_182977.3(NNT):c.1259dup (p.His421fs)
|
rs864309519
|
|
NM_182977.3(NNT):c.1575dup (p.Pro526fs)
|
rs1739624229
|
|
NM_182977.3(NNT):c.1598C>T (p.Ala533Val)
|
rs387907232
|
|
NM_182977.3(NNT):c.1822G>A (p.Gly608Arg)
|
rs2111899861
|
|
NM_182977.3(NNT):c.211C>T (p.Arg71Ter)
|
rs886039790
|
|
NM_182977.3(NNT):c.2274del (p.Ile758fs)
|
rs2111935997
|
|
NM_182977.3(NNT):c.2635-1G>T
|
|
|
NM_182977.3(NNT):c.2930T>C (p.Leu977Pro)
|
rs387907233
|
|
NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro)
|
rs387907234
|
|
NM_182977.3(NNT):c.598G>A (p.Gly200Ser)
|
rs886039788
|
|
NM_182977.3(NNT):c.600-1del
|
rs786205344
|
|
NM_182977.3(NNT):c.644T>C (p.Phe215Ser)
|
rs886039786
|
|
NM_182977.3(NNT):c.80G>A (p.Arg27His)
|
rs34241095
|
|
NM_182977.3(NNT):c.98dup (p.Leu33fs)
|
rs1579966821
|
|
NR0B1, 1-BP INS, 430G
|
|
|