ClinVar Miner

List of variants studied for adrenocortical insufficiency

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2256
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HGVS dbSNP gnomAD frequency
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=)
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=)
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
NM_001395413.1(POR):c.357+15C>T
NM_001395413.1(POR):c.357+16G>A
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
NM_001395413.1(POR):c.357+8G>A
NM_001395413.1(POR):c.358-12_358-11del
NM_001395413.1(POR):c.358-14C>G
NM_001395413.1(POR):c.358-18C>G
NM_001395413.1(POR):c.358-5T>C
NM_001395413.1(POR):c.358-9_358-4del
NM_001395413.1(POR):c.364C>T (p.Leu122=)
NM_001395413.1(POR):c.366G>A (p.Leu122=)
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)
NM_001395413.1(POR):c.386del (p.Asp129fs)
NM_001395413.1(POR):c.39C>T (p.Ser13=)
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
NM_001395413.1(POR):c.508-19G>T
NM_001395413.1(POR):c.508-5C>T
NM_001395413.1(POR):c.508-7C>T
NM_001395413.1(POR):c.511T>A (p.Phe171Ile)
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
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

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