NM_000033.4(ABCD1):c.*8G>C
|
rs2229539
|
0.70012
|
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)
|
rs1133779
|
0.49415
|
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_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39834
|
NM_000383.4(AIRE):c.681C>T (p.Gly227=)
|
rs1055311
|
0.21613
|
NM_000383.4(AIRE):c.588C>T (p.Ser196=)
|
rs878081
|
0.18544
|
NM_000383.4(AIRE):c.99T>C (p.Ala33=)
|
rs3746964
|
0.18036
|
NM_000383.4(AIRE):c.1095+6G>A
|
rs1800525
|
0.10544
|
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)
|
rs61757294
|
0.08654
|
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)
|
rs41314153
|
0.08321
|
NM_000383.4(AIRE):c.1203T>C (p.Pro401=)
|
rs61737072
|
0.05045
|
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=)
|
rs33926546
|
0.01994
|
NM_000383.4(AIRE):c.1096-9G>C
|
rs113512196
|
0.01593
|
NM_000349.3(STAR):c.153G>A (p.Gln51=)
|
rs72552290
|
0.01453
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu)
|
rs11910214
|
0.00580
|
NM_000033.4(ABCD1):c.901-10C>T
|
rs2269365
|
0.00512
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
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_000383.4(AIRE):c.1116G>A (p.Ser372=)
|
rs61737006
|
0.00304
|
NM_000383.4(AIRE):c.1400+10C>T
|
rs372277949
|
0.00304
|
NM_000349.3(STAR):c.433G>A (p.Gly145Arg)
|
rs80231229
|
0.00250
|
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn)
|
rs145370269
|
0.00241
|
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=)
|
rs75506816
|
0.00220
|
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu)
|
rs142366324
|
0.00212
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_000383.4(AIRE):c.1065C>T (p.Pro355=)
|
rs201551372
|
0.00188
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000383.4(AIRE):c.510A>G (p.Ala170=)
|
rs146992760
|
0.00113
|
NM_000349.3(STAR):c.466-5G>A
|
rs375678713
|
0.00111
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_000349.3(STAR):c.481G>A (p.Gly161Arg)
|
rs188044385
|
0.00103
|
NM_000383.4(AIRE):c.789C>T (p.Gly263=)
|
rs138066507
|
0.00099
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
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_000498.3(CYP11B2):c.282G>A (p.Pro94=)
|
rs141789054
|
0.00081
|
NM_000383.4(AIRE):c.447G>A (p.Arg149=)
|
rs374704178
|
0.00069
|
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val)
|
rs79212994
|
0.00068
|
NM_000383.4(AIRE):c.1383C>T (p.Ala461=)
|
rs147485628
|
0.00066
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_000349.3(STAR):c.306+10G>A
|
rs200480072
|
0.00043
|
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
|
rs202125585
|
0.00041
|
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=)
|
rs114064941
|
0.00041
|
NM_000383.4(AIRE):c.1437G>A (p.Val479=)
|
rs181029582
|
0.00041
|
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
|
rs145545199
|
0.00037
|
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=)
|
rs138811555
|
0.00036
|
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
|
rs140196414
|
0.00036
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_000383.4(AIRE):c.521G>A (p.Arg174His)
|
rs145732243
|
0.00035
|
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)
|
rs145073701
|
0.00034
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly)
|
rs200377867
|
0.00032
|
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)
|
rs373993732
|
0.00031
|
NM_000498.3(CYP11B2):c.801T>C (p.Gly267=)
|
rs201063442
|
0.00030
|
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
|
rs782134465
|
0.00028
|
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp)
|
rs74162063
|
0.00028
|
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)
|
rs371126595
|
0.00026
|
NM_000383.4(AIRE):c.507C>T (p.Ser169=)
|
rs566659101
|
0.00025
|
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)
|
rs368606000
|
0.00024
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
0.00023
|
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)
|
rs146810389
|
0.00023
|
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)
|
rs142788946
|
0.00022
|
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)
|
rs148012328
|
0.00022
|
NM_000383.4(AIRE):c.912C>T (p.Asp304=)
|
rs149769247
|
0.00022
|
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu)
|
rs200955183
|
0.00020
|
NM_000383.4(AIRE):c.538+7G>A
|
rs575144370
|
0.00019
|
NM_000383.4(AIRE):c.1244A>G (p.His415Arg)
|
rs149609996
|
0.00017
|
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)
|
rs141110958
|
0.00016
|
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_000383.4(AIRE):c.1066C>T (p.Arg356Trp)
|
rs376901046
|
0.00016
|
NM_000383.4(AIRE):c.137C>T (p.Thr46Met)
|
rs758870962
|
0.00016
|
NM_000383.4(AIRE):c.180C>T (p.His60=)
|
rs201591958
|
0.00016
|
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys)
|
rs141480813
|
0.00016
|
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln)
|
rs139808903
|
0.00016
|
NM_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
NM_000383.4(AIRE):c.600G>A (p.Pro200=)
|
rs754331960
|
0.00015
|
NM_000383.4(AIRE):c.936C>T (p.Asp312=)
|
rs147889221
|
0.00015
|
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)
|
rs74315279
|
0.00014
|
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr)
|
rs561652010
|
0.00014
|
NM_000383.4(AIRE):c.880-7G>A
|
rs141955483
|
0.00014
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
NM_000498.3(CYP11B2):c.102G>A (p.Thr34=)
|
rs367950425
|
0.00013
|
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=)
|
rs782093609
|
0.00012
|
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu)
|
rs143952576
|
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_000383.4(AIRE):c.1158C>T (p.Ala386=)
|
rs199555518
|
0.00011
|
NM_000383.4(AIRE):c.1200G>A (p.Pro400=)
|
rs377627680
|
0.00011
|
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)
|
rs139835427
|
0.00011
|
NM_000383.4(AIRE):c.354C>G (p.Val118=)
|
rs528667089
|
0.00011
|
NM_000383.4(AIRE):c.372G>A (p.Pro124=)
|
rs775117249
|
0.00011
|
NM_000383.4(AIRE):c.705G>A (p.Lys235=)
|
rs145255118
|
0.00011
|
NM_000383.4(AIRE):c.825G>C (p.Gln275His)
|
rs1027582142
|
0.00011
|
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)
|
rs104894072
|
0.00011
|
NM_000033.4(ABCD1):c.108G>A (p.Val36=)
|
rs368718078
|
0.00010
|
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)
|
rs782742220
|
0.00010
|
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu)
|
rs202237214
|
0.00010
|
NM_000383.4(AIRE):c.1450G>A (p.Val484Met)
|
rs367966318
|
0.00010
|
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys)
|
rs752687905
|
0.00010
|
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)
|
rs200899780
|
0.00010
|
NM_000383.4(AIRE):c.927C>G (p.Ile309Met)
|
rs74162062
|
0.00010
|
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=)
|
rs781935761
|
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_000349.3(STAR):c.108C>T (p.Asn36=)
|
rs373945555
|
0.00009
|
NM_000383.4(AIRE):c.1095+2T>C
|
rs760280615
|
0.00009
|
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu)
|
rs138949170
|
0.00009
|
NM_000383.4(AIRE):c.615C>T (p.Ala205=)
|
rs143784684
|
0.00009
|
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg)
|
rs201979180
|
0.00008
|
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)
|
rs201222065
|
0.00008
|
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)
|
rs33932258
|
0.00008
|
NM_000383.4(AIRE):c.1203_1278+28del
|
rs1568929576
|
0.00008
|
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)
|
rs781928741
|
0.00007
|
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)
|
rs782453684
|
0.00007
|
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)
|
rs782563177
|
0.00007
|
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.64+1G>T
|
rs765968701
|
0.00007
|
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu)
|
rs374475349
|
0.00007
|
NM_000383.4(AIRE):c.1095+10C>T
|
rs372932833
|
0.00007
|
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)
|
rs201945690
|
0.00007
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
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.714T>C (p.Ala238=)
|
rs745608432
|
0.00006
|
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala)
|
rs771790456
|
0.00006
|
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
|
rs201491251
|
0.00006
|
NM_000383.4(AIRE):c.1326C>T (p.Asp442=)
|
rs750033525
|
0.00006
|
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser)
|
rs753460287
|
0.00006
|
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)
|
rs142286875
|
0.00006
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=)
|
rs782250326
|
0.00005
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
NM_000033.4(ABCD1):c.414C>T (p.Leu138=)
|
rs782197275
|
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.772C>T (p.Gln258Ter)
|
rs104894085
|
0.00005
|
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser)
|
rs554591629
|
0.00005
|
NM_000383.4(AIRE):c.1367G>A (p.Arg456His)
|
rs554954634
|
0.00005
|
NM_000383.4(AIRE):c.156G>A (p.Lys52=)
|
rs144396624
|
0.00005
|
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys)
|
rs781983308
|
0.00004
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)
|
rs782724538
|
0.00004
|
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_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser)
|
rs1267538837
|
0.00004
|
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr)
|
rs758446796
|
0.00004
|
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)
|
rs1402673356
|
0.00004
|
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met)
|
rs775349581
|
0.00004
|
NM_000383.4(AIRE):c.328C>T (p.Arg110Trp)
|
rs764029559
|
0.00004
|
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)
|
rs151049459
|
0.00004
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
NM_000383.4(AIRE):c.352G>A (p.Val118Ile)
|
rs370599883
|
0.00004
|
NM_000383.4(AIRE):c.652+1G>T
|
rs199612115
|
0.00004
|
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro)
|
rs761025044
|
0.00004
|
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln)
|
rs202027254
|
0.00004
|
NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=)
|
rs763197267
|
0.00004
|
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=)
|
rs141645920
|
0.00004
|
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=)
|
rs1557054743
|
0.00003
|
NM_000033.4(ABCD1):c.294G>T (p.Ser98=)
|
rs781954264
|
0.00003
|
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)
|
rs782720024
|
0.00003
|
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)
|
rs104894154
|
0.00003
|
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=)
|
rs146311005
|
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_000383.4(AIRE):c.1031C>T (p.Thr344Ile)
|
rs929430876
|
0.00003
|
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
|
rs557522986
|
0.00003
|
NM_000383.4(AIRE):c.1347C>T (p.Cys449=)
|
rs367619299
|
0.00003
|
NM_000383.4(AIRE):c.1400+7G>C
|
rs781592443
|
0.00003
|
NM_000383.4(AIRE):c.1481G>A (p.Arg494His)
|
rs528762050
|
0.00003
|
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
|
rs746873146
|
0.00003
|
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)
|
rs372219460
|
0.00003
|
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe)
|
rs753236604
|
0.00003
|
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro)
|
rs767272852
|
0.00003
|
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=)
|
rs782095899
|
0.00002
|
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=)
|
rs375656638
|
0.00002
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
NM_000033.4(ABCD1):c.1467G>A (p.Val489=)
|
rs782516659
|
0.00002
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly)
|
rs782065134
|
0.00002
|
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=)
|
rs782618093
|
0.00002
|
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=)
|
rs782468372
|
0.00002
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
NM_000033.4(ABCD1):c.819G>A (p.Ala273=)
|
rs782165410
|
0.00002
|
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
|
rs782419107
|
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_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)
|
rs766474996
|
0.00002
|
NM_000349.3(STAR):c.745-1G>C
|
rs374297649
|
0.00002
|
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu)
|
rs754391375
|
0.00002
|
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp)
|
rs921069738
|
0.00002
|
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr)
|
rs373383785
|
0.00002
|
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)
|
rs779510704
|
0.00002
|
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly)
|
rs201602355
|
0.00002
|
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys)
|
rs1416029492
|
0.00002
|
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)
|
rs179363880
|
0.00002
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
NM_000383.4(AIRE):c.423C>T (p.Ala141=)
|
rs572002344
|
0.00002
|
NM_000383.4(AIRE):c.453C>T (p.Thr151=)
|
rs554372593
|
0.00002
|
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter)
|
rs755490967
|
0.00002
|
NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)
|
rs779683417
|
0.00002
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=)
|
rs149643908
|
0.00001
|
NM_000033.4(ABCD1):c.1749G>A (p.Val583=)
|
rs1557054868
|
0.00001
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
|
rs782583464
|
0.00001
|
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu)
|
rs375489051
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln)
|
rs200191405
|
0.00001
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
|
rs61754278
|
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.235C>G (p.His79Asp)
|
rs370973897
|
0.00001
|
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=)
|
rs535575638
|
0.00001
|
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)
|
rs104894135
|
0.00001
|
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)
|
rs148200568
|
0.00001
|
NM_000198.4(HSD3B2):c.308-9C>T
|
rs375047799
|
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.672T>C (p.Tyr224=)
|
rs116728039
|
0.00001
|
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln)
|
rs751984843
|
0.00001
|
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=)
|
rs587775183
|
0.00001
|
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)
|
rs781281145
|
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_000383.4(AIRE):c.1015A>G (p.Ser339Gly)
|
rs919219488
|
0.00001
|
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
|
rs752432041
|
0.00001
|
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser)
|
rs200540137
|
0.00001
|
NM_000383.4(AIRE):c.1095+5G>T
|
rs1057522692
|
0.00001
|
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)
|
rs372895437
|
0.00001
|
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu)
|
rs769719554
|
0.00001
|
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala)
|
rs751963717
|
0.00001
|
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser)
|
rs199621393
|
0.00001
|
NM_000383.4(AIRE):c.1248C>G (p.Pro416=)
|
rs74162064
|
0.00001
|
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp)
|
rs1208287091
|
0.00001
|
NM_000383.4(AIRE):c.1278+1G>A
|
rs1184559866
|
0.00001
|
NM_000383.4(AIRE):c.1278+6C>T
|
rs372612211
|
0.00001
|
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu)
|
rs751271727
|
0.00001
|
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)
|
rs979048802
|
0.00001
|
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg)
|
rs957681340
|
0.00001
|
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg)
|
rs749111202
|
0.00001
|
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys)
|
rs1465595959
|
0.00001
|
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu)
|
rs1189029187
|
0.00001
|
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val)
|
rs376731017
|
0.00001
|
NM_000383.4(AIRE):c.1A>T (p.Met1Leu)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.353T>A (p.Val118Asp)
|
rs772511282
|
0.00001
|
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr)
|
rs771314896
|
0.00001
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp)
|
rs1036995518
|
0.00001
|
NM_000383.4(AIRE):c.534G>A (p.Gly178=)
|
rs1160671214
|
0.00001
|
NM_000383.4(AIRE):c.538+3G>A
|
rs557176517
|
0.00001
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
0.00001
|
NM_000383.4(AIRE):c.794C>T (p.Ala265Val)
|
rs775896896
|
0.00001
|
NM_000383.4(AIRE):c.798+5G>A
|
rs1490186498
|
0.00001
|
NM_000383.4(AIRE):c.840C>T (p.Pro280=)
|
rs772423300
|
0.00001
|
NM_000383.4(AIRE):c.843C>T (p.Ala281=)
|
rs769454980
|
0.00001
|
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn)
|
rs375819189
|
0.00001
|
NM_000383.4(AIRE):c.90C>T (p.His30=)
|
rs754316070
|
0.00001
|
NM_000498.3(CYP11B2):c.39G>A (p.Ala13=)
|
rs754286042
|
0.00001
|
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=)
|
rs763373087
|
0.00001
|
NM_000033.4(ABCD1):c.-20C>T
|
rs782004770
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del)
|
rs782627940
|
|
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)
|
rs782419455
|
|
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)
|
rs782159028
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
|
rs782440686
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg)
|
rs2091764661
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu)
|
rs782327280
|
|
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
|
rs782311214
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
|
rs2091776291
|
|
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)
|
rs868977355
|
|
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
|
rs782601474
|
|
NM_000033.4(ABCD1):c.696G>A (p.Ala232=)
|
rs147595334
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000102.4(CYP17A1):c.102G>T (p.Leu34=)
|
rs752346898
|
|
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)
|
rs2134082367
|
|
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.1283C>T (p.Pro428Leu)
|
rs104894145
|
|
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys)
|
rs746813353
|
|
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)
|
rs756135168
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
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.384G>A (p.Ala128=)
|
rs1844146929
|
|
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)
|
rs104894136
|
|
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.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
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.867G>C (p.Leu289=)
|
rs1292390178
|
|
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
|
rs781213951
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000349.3(STAR):c.161G>T (p.Arg54Leu)
|
rs200245763
|
|
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)
|
rs1563268652
|
|
NM_000349.3(STAR):c.307-1G>A
|
rs2130614519
|
|
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)
|
rs369232492
|
|
NM_000349.3(STAR):c.545G>A (p.Arg182His)
|
rs104894086
|
|
NM_000383.4(AIRE):c.-4C>A
|
rs1004208577
|
|
NM_000383.4(AIRE):c.1084G>A (p.Val362Met)
|
rs763954225
|
|
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu)
|
rs763954225
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
NM_000383.4(AIRE):c.1278+1del
|
rs996389327
|
|
NM_000383.4(AIRE):c.1373A>G (p.His458Arg)
|
rs1601969955
|
|
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg)
|
rs202018301
|
|
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg)
|
rs202018301
|
|
NM_000383.4(AIRE):c.1400+4A>C
|
rs2040574937
|
|
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)
|
rs72650679
|
|
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu)
|
rs528762050
|
|
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)
|
rs1444691231
|
|
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg)
|
rs746873146
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.266G>A (p.Arg89His)
|
rs762267080
|
|
NM_000383.4(AIRE):c.307+2T>G
|
rs2146375964
|
|
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)
|
rs121434256
|
|
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)
|
rs179363876
|
|
NM_000383.4(AIRE):c.463+5C>T
|
rs569224551
|
|
NM_000383.4(AIRE):c.47C>T (p.Thr16Met)
|
rs179363877
|
|
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)
|
rs1057517241
|
|
NM_000383.4(AIRE):c.581T>C (p.Met194Thr)
|
rs1351412367
|
|
NM_000383.4(AIRE):c.640G>A (p.Val214Met)
|
rs369232026
|
|
NM_000383.4(AIRE):c.708C>T (p.Phe236=)
|
rs908180454
|
|
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu)
|
rs2040517102
|
|
NM_000383.4(AIRE):c.773C>G (p.Ala258Gly)
|
rs1388835954
|
|
NM_000383.4(AIRE):c.783C>T (p.Ala261=)
|
rs777866382
|
|
NM_000383.4(AIRE):c.798+1G>T
|
rs138489664
|
|
NM_000383.4(AIRE):c.798C>G (p.Pro266=)
|
rs41277550
|
|
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)
|
rs1800520
|
|
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr)
|
rs1311252316
|
|
NM_000383.4(AIRE):c.925A>G (p.Ile309Val)
|
rs936714310
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000498.3(CYP11B2):c.240-9del
|
rs61757314
|
|