NM_001407092.1(OTC):c.-79-582C>T
|
rs5963412
|
0.69728
|
NM_001407092.1(OTC):c.-79-567G>A
|
rs5963413
|
0.69374
|
NM_000531.6(OTC):c.1005+941T>C
|
rs5963419
|
0.51422
|
NM_000531.6(OTC):c.540+134G>A
|
rs2272721
|
0.50169
|
NM_000531.6(OTC):c.541-63G>A
|
rs2235125
|
0.46334
|
NM_000531.6(OTC):c.541-172_541-170dup
|
rs3047852
|
0.46083
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
NM_000531.6(OTC):c.541-305A>G
|
rs6609709
|
0.22631
|
NM_000531.6(OTC):c.1006-70C>T
|
rs12557315
|
0.18755
|
NM_000531.6(OTC):c.664-220G>A
|
rs1554993
|
0.13567
|
NM_000531.6(OTC):c.540+455A>G
|
rs12855364
|
0.12268
|
NM_000531.6(OTC):c.718-14T>C
|
rs55722856
|
0.05854
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_000531.6(OTC):c.1005+1133A>G
|
rs56125451
|
0.02726
|
NM_000531.6(OTC):c.867+35T>G
|
rs62622415
|
0.02489
|
NM_000531.6(OTC):c.78-233G>C
|
rs148036282
|
0.02409
|
NM_000531.6(OTC):c.217-200G>A
|
rs7064359
|
0.02350
|
NM_000531.6(OTC):c.867+905T>C
|
rs144339942
|
0.02205
|
NM_000531.6(OTC):c.540+203C>A
|
rs7057582
|
0.01817
|
NM_000531.6(OTC):c.1006-235C>A
|
rs142714285
|
0.01780
|
NM_000531.6(OTC):c.540+489A>G
|
rs148514349
|
0.01609
|
NC_000023.11:g.38352403G>A
|
rs139948134
|
0.00735
|
NM_000531.6(OTC):c.867+1136C>A
|
rs7050531
|
0.00723
|
NM_000531.6(OTC):c.541-214G>A
|
rs189677998
|
0.00571
|
NM_000531.6(OTC):c.540+106A>G
|
rs146029887
|
0.00559
|
NM_000531.6(OTC):c.540+296G>C
|
rs746940552
|
0.00548
|
NM_000531.6(OTC):c.868-177A>T
|
rs190591013
|
0.00546
|
NM_000531.6(OTC):c.867+1061G>T
|
rs181507702
|
0.00533
|
NM_000531.6(OTC):c.299-147T>G
|
rs183024179
|
0.00449
|
NM_000531.6(OTC):c.868-126G>A
|
rs749336683
|
0.00355
|
NM_000531.6(OTC):c.-366A>G
|
rs191615506
|
0.00354
|
NM_000531.6(OTC):c.-48G>T
|
rs182454762
|
0.00090
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_000531.6(OTC):c.582C>T (p.Ile194=)
|
rs200564773
|
0.00018
|
NM_000531.6(OTC):c.534G>A (p.Thr178=)
|
rs775895740
|
0.00012
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
NM_000531.6(OTC):c.626C>G (p.Ala209Gly)
|
rs72558417
|
0.00009
|
NM_000531.6(OTC):c.299-18C>T
|
rs5917586
|
0.00006
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00005
|
NM_000531.6(OTC):c.498G>T (p.Leu166Phe)
|
rs759911602
|
0.00004
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
NM_000531.6(OTC):c.762G>T (p.Ala254=)
|
rs1388386866
|
0.00002
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
NM_000531.6(OTC):c.808C>G (p.Gln270Glu)
|
rs72558451
|
0.00002
|
NM_000531.6(OTC):c.-4G>A
|
rs796052014
|
0.00001
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
NM_000531.6(OTC):c.147C>T (p.Thr49=)
|
rs144153859
|
0.00001
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
NM_000531.6(OTC):c.409G>A (p.Ala137Thr)
|
rs72556258
|
0.00001
|
NM_000531.6(OTC):c.520G>A (p.Ala174Thr)
|
rs72556281
|
0.00001
|
NM_000531.6(OTC):c.847G>C (p.Gly283Arg)
|
rs2068530349
|
0.00001
|
GRCh37/hg19 Xp11.4(chrX:38280275-38280335)x1
|
|
|
NC_000023.11:g.38352178TTCT[1]
|
rs57752938
|
|
NM_000531.5(OTC):c.-106C>A
|
rs749748052
|
|
NM_000531.5(OTC):c.664-1delG
|
rs67839039
|
|
NM_000531.6(OTC):c.1005+132dup
|
rs3215429
|
|
NM_000531.6(OTC):c.1005+1G>T
|
rs72558483
|
|
NM_000531.6(OTC):c.1005+2T>C
|
rs72558484
|
|
NM_000531.6(OTC):c.1005G>A (p.Met335Ile)
|
rs281865553
|
|
NM_000531.6(OTC):c.1006-1G>A
|
rs67916658
|
|
NM_000531.6(OTC):c.1006-3C>G
|
rs72558485
|
|
NM_000531.6(OTC):c.1006G>T (p.Ala336Ser)
|
rs72558486
|
|
NM_000531.6(OTC):c.1009G>C (p.Val337Leu)
|
rs72558487
|
|
NM_000531.6(OTC):c.1015G>C (p.Val339Leu)
|
rs72558488
|
|
NM_000531.6(OTC):c.1018T>C (p.Ser340Pro)
|
rs72558489
|
|
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
NM_000531.6(OTC):c.1022T>C (p.Leu341Pro)
|
rs72558490
|
|
NM_000531.6(OTC):c.1028C>A (p.Thr343Lys)
|
rs72558491
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp)
|
rs66469337
|
|
NM_000531.6(OTC):c.1034A>G (p.Tyr345Cys)
|
rs72558492
|
|
NM_000531.6(OTC):c.1039C>A (p.Pro347Thr)
|
rs72558493
|
|
NM_000531.6(OTC):c.1042C>T (p.Gln348Ter)
|
rs72558494
|
|
NM_000531.6(OTC):c.106C>T (p.Gln36Ter)
|
rs72554305
|
|
NM_000531.6(OTC):c.115G>T (p.Gly39Cys)
|
rs72554306
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000531.6(OTC):c.122A>G (p.Asp41Gly)
|
rs74518351
|
|
NM_000531.6(OTC):c.122A>T (p.Asp41Val)
|
rs74518351
|
|
NM_000531.6(OTC):c.127C>T (p.Leu43Phe)
|
rs72554309
|
|
NM_000531.6(OTC):c.131C>T (p.Thr44Ile)
|
rs72554310
|
|
NM_000531.6(OTC):c.133C>G (p.Leu45Val)
|
rs72554311
|
|
NM_000531.6(OTC):c.134T>C (p.Leu45Pro)
|
rs72554312
|
|
NM_000531.6(OTC):c.140A>T (p.Asn47Ile)
|
rs67939655
|
|
NM_000531.6(OTC):c.140_141insG (p.Asn47fs)
|
rs72554314
|
|
NM_000531.6(OTC):c.140del (p.Asn47fs)
|
rs72554313
|
|
NM_000531.6(OTC):c.143T>C (p.Phe48Ser)
|
rs72554315
|
|
NM_000531.6(OTC):c.143_144del (p.Phe48fs)
|
rs2068301848
|
|
NM_000531.6(OTC):c.145A>C (p.Thr49Pro)
|
rs72554316
|
|
NM_000531.6(OTC):c.148G>T (p.Gly50Ter)
|
rs67486158
|
|
NM_000531.6(OTC):c.154G>A (p.Glu52Lys)
|
rs66521141
|
|
NM_000531.6(OTC):c.154G>T (p.Glu52Ter)
|
rs66521141
|
|
NM_000531.6(OTC):c.155A>G (p.Glu52Gly)
|
rs72554317
|
|
NM_000531.6(OTC):c.156A>T (p.Glu52Asp)
|
rs72554318
|
|
NM_000531.6(OTC):c.158T>C (p.Ile53Thr)
|
rs66677059
|
|
NM_000531.6(OTC):c.158T>G (p.Ile53Ser)
|
rs66677059
|
|
NM_000531.6(OTC):c.163T>G (p.Tyr55Asp)
|
rs72554319
|
|
NM_000531.6(OTC):c.167T>C (p.Met56Thr)
|
rs72554320
|
|
NM_000531.6(OTC):c.170T>A (p.Leu57Gln)
|
rs72554321
|
|
NM_000531.6(OTC):c.174G>A (p.Trp58Ter)
|
rs72554322
|
|
NM_000531.6(OTC):c.179C>T (p.Ser60Leu)
|
rs72554323
|
|
NM_000531.6(OTC):c.188T>C (p.Leu63Pro)
|
rs72554324
|
|
NM_000531.6(OTC):c.197G>A (p.Arg66Lys)
|
|
|
NM_000531.6(OTC):c.1A>G (p.Met1Val)
|
rs67752076
|
|
NM_000531.6(OTC):c.1A>T (p.Met1Leu)
|
rs67752076
|
|
NM_000531.6(OTC):c.200T>G (p.Ile67Arg)
|
rs72554325
|
|
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)
|
rs72554326
|
|
NM_000531.6(OTC):c.216+1G>A
|
rs66693137
|
|
NM_000531.6(OTC):c.216+1G>T
|
rs66693137
|
|
NM_000531.6(OTC):c.216+1del
|
rs886041526
|
|
NM_000531.6(OTC):c.216+280ATTT[7]
|
rs200633699
|
|
NM_000531.6(OTC):c.217-1G>A
|
rs72554327
|
|
NM_000531.6(OTC):c.217-265del
|
rs11313102
|
|
NM_000531.6(OTC):c.217-265dup
|
rs11313102
|
|
NM_000531.6(OTC):c.217-266_217-265del
|
rs11313102
|
|
NM_000531.6(OTC):c.217-2dup
|
rs796052015
|
|
NM_000531.6(OTC):c.227T>C (p.Leu76Ser)
|
rs72554328
|
|
NM_000531.6(OTC):c.228A>C (p.Leu76Phe)
|
rs1555972495
|
|
NM_000531.6(OTC):c.231G>T (p.Leu77Phe)
|
rs72554329
|
|
NM_000531.6(OTC):c.232C>T (p.Gln78Ter)
|
rs72554330
|
|
NM_000531.6(OTC):c.236G>A (p.Gly79Glu)
|
rs72554331
|
|
NM_000531.6(OTC):c.238A>G (p.Lys80Glu)
|
rs72554332
|
|
NM_000531.6(OTC):c.240G>T (p.Lys80Asn)
|
rs72554333
|
|
NM_000531.6(OTC):c.243_245del (p.Leu82del)
|
rs72554334
|
|
NM_000531.6(OTC):c.245T>G (p.Leu82Ter)
|
rs72554335
|
|
NM_000531.6(OTC):c.247G>C (p.Gly83Arg)
|
rs72554336
|
|
NM_000531.6(OTC):c.248G>A (p.Gly83Asp)
|
rs72554337
|
|
NM_000531.6(OTC):c.258dup (p.Glu87Ter)
|
|
|
NM_000531.6(OTC):c.259G>A (p.Glu87Lys)
|
rs72554338
|
|
NM_000531.6(OTC):c.264A>T (p.Lys88Asn)
|
rs72554339
|
|
NM_000531.6(OTC):c.268A>G (p.Ser90Gly)
|
rs72554340
|
|
NM_000531.6(OTC):c.269G>A (p.Ser90Asn)
|
rs72554341
|
|
NM_000531.6(OTC):c.270T>G (p.Ser90Arg)
|
rs72554342
|
|
NM_000531.6(OTC):c.271del (p.Thr91fs)
|
rs72554343
|
|
NM_000531.6(OTC):c.274C>G (p.Arg92Gly)
|
rs67418243
|
|
NM_000531.6(OTC):c.274C>T (p.Arg92Ter)
|
rs67418243
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
NM_000531.6(OTC):c.275G>C (p.Arg92Pro)
|
rs66550389
|
|
NM_000531.6(OTC):c.275G>T (p.Arg92Leu)
|
rs66550389
|
|
NM_000531.6(OTC):c.277A>G (p.Thr93Ala)
|
rs72554344
|
|
NM_000531.6(OTC):c.281G>C (p.Arg94Thr)
|
rs72554345
|
|
NM_000531.6(OTC):c.284T>C (p.Leu95Ser)
|
rs72554346
|
|
NM_000531.6(OTC):c.292G>A (p.Glu98Lys)
|
rs72554347
|
|
NM_000531.6(OTC):c.298+1G>A
|
rs68058881
|
|
NM_000531.6(OTC):c.298+1G>T
|
rs68058881
|
|
NM_000531.6(OTC):c.298+1_298+5del
|
rs111060773
|
|
NM_000531.6(OTC):c.298+2T>G
|
rs1555972538
|
|
NM_000531.6(OTC):c.299-34dup
|
rs398122026
|
|
NM_000531.6(OTC):c.299-8del
|
rs764551624
|
|
NM_000531.6(OTC):c.299G>A (p.Gly100Asp)
|
rs72554349
|
|
NM_000531.6(OTC):c.29_32del (p.Asn10fs)
|
rs72552297
|
|
NM_000531.6(OTC):c.2T>C (p.Met1Thr)
|
rs72552295
|
|
NM_000531.6(OTC):c.305C>A (p.Ala102Glu)
|
rs72554350
|
|
NM_000531.6(OTC):c.314G>T (p.Gly105Val)
|
rs72554351
|
|
NM_000531.6(OTC):c.316G>A (p.Gly106Arg)
|
rs72554352
|
|
NM_000531.6(OTC):c.317G>A (p.Gly106Glu)
|
rs67651903
|
|
NM_000531.6(OTC):c.317G>T (p.Gly106Val)
|
rs67651903
|
|
NM_000531.6(OTC):c.322C>G (p.Pro108Ala)
|
|
|
NM_000531.6(OTC):c.330del (p.Thr112fs)
|
rs72554353
|
|
NM_000531.6(OTC):c.350A>G (p.His117Arg)
|
rs66539573
|
|
NM_000531.6(OTC):c.350A>T (p.His117Leu)
|
rs66539573
|
|
NM_000531.6(OTC):c.354G>A (p.Leu118=)
|
rs1057518540
|
|
NM_000531.6(OTC):c.359_360del (p.Val120fs)
|
rs72554354
|
|
NM_000531.6(OTC):c.363T>A (p.Asn121Lys)
|
|
|
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs)
|
rs72554355
|
|
NM_000531.6(OTC):c.365A>G (p.Glu122Gly)
|
rs1131691517
|
|
NM_000531.6(OTC):c.376del (p.Asp126fs)
|
rs72554357
|
|
NM_000531.6(OTC):c.377A>G (p.Asp126Gly)
|
rs72554358
|
|
NM_000531.6(OTC):c.382G>C (p.Ala128Pro)
|
rs886043507
|
|
NM_000531.6(OTC):c.386+1G>A
|
rs66737144
|
|
NM_000531.6(OTC):c.386+1G>T
|
rs66737144
|
|
NM_000531.6(OTC):c.386+2T>C
|
rs72554359
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
NM_000531.6(OTC):c.386G>C (p.Arg129Pro)
|
rs66656800
|
|
NM_000531.6(OTC):c.386G>T (p.Arg129Leu)
|
rs66656800
|
|
NM_000531.6(OTC):c.387-2A>C
|
rs66556380
|
|
NM_000531.6(OTC):c.387-2A>G
|
rs66556380
|
|
NM_000531.6(OTC):c.387-2A>T
|
rs66556380
|
|
NM_000531.6(OTC):c.390_392dup (p.Leu131dup)
|
rs72556251
|
|
NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer)
|
rs1602029533
|
|
NM_000531.6(OTC):c.392T>C (p.Leu131Ser)
|
rs72556252
|
|
NM_000531.6(OTC):c.394T>C (p.Ser132Pro)
|
rs72556253
|
|
NM_000531.6(OTC):c.395C>T (p.Ser132Phe)
|
rs72556254
|
|
NM_000531.6(OTC):c.396T>C (p.Ser132=)
|
rs1602029553
|
|
NM_000531.6(OTC):c.3G>A (p.Met1Ile)
|
rs72552296
|
|
NM_000531.6(OTC):c.403del (p.Ala135fs)
|
rs72556255
|
|
NM_000531.6(OTC):c.404C>A (p.Ala135Glu)
|
rs72556256
|
|
NM_000531.6(OTC):c.407A>T (p.Asp136Val)
|
rs72556257
|
|
NM_000531.6(OTC):c.416T>C (p.Leu139Ser)
|
rs72556259
|
|
NM_000531.6(OTC):c.418G>C (p.Ala140Pro)
|
rs72556260
|
|
NM_000531.6(OTC):c.421C>G (p.Arg141Gly)
|
rs67960011
|
|
NM_000531.6(OTC):c.421C>T (p.Arg141Ter)
|
rs67960011
|
|
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)
|
rs68026851
|
|
NM_000531.6(OTC):c.422G>C (p.Arg141Pro)
|
rs68026851
|
|
NM_000531.6(OTC):c.425T>A (p.Val142Glu)
|
rs72556261
|
|
NM_000531.6(OTC):c.42del (p.Phe14fs)
|
rs72552298
|
|
NM_000531.6(OTC):c.430A>T (p.Lys144Ter)
|
rs72556262
|
|
NM_000531.6(OTC):c.433C>A (p.Gln145Lys)
|
rs753584565
|
|
NM_000531.6(OTC):c.437C>G (p.Ser146Ter)
|
rs72556263
|
|
NM_000531.6(OTC):c.443T>C (p.Leu148Ser)
|
rs67016166
|
|
NM_000531.6(OTC):c.443T>G (p.Leu148Trp)
|
rs67016166
|
|
NM_000531.6(OTC):c.444G>C (p.Leu148Phe)
|
rs66741318
|
|
NM_000531.6(OTC):c.444G>T (p.Leu148Phe)
|
rs66741318
|
|
NM_000531.6(OTC):c.451del (p.Leu151fs)
|
rs72556264
|
|
NM_000531.6(OTC):c.452T>G (p.Leu151Arg)
|
rs72556265
|
|
NM_000531.6(OTC):c.455C>T (p.Ala152Val)
|
rs72556266
|
|
NM_000531.6(OTC):c.460G>T (p.Glu154Ter)
|
rs72556267
|
|
NM_000531.6(OTC):c.463G>C (p.Ala155Pro)
|
rs67890094
|
|
NM_000531.6(OTC):c.463G>T (p.Ala155Ser)
|
rs67890094
|
|
NM_000531.6(OTC):c.464C>A (p.Ala155Glu)
|
rs72556268
|
|
NM_000531.6(OTC):c.470T>C (p.Ile157Thr)
|
rs1569279421
|
|
NM_000531.6(OTC):c.476T>C (p.Ile159Thr)
|
rs72556269
|
|
NM_000531.6(OTC):c.479T>A (p.Ile160Asn)
|
rs67954347
|
|
NM_000531.6(OTC):c.479T>C (p.Ile160Thr)
|
rs67954347
|
|
NM_000531.6(OTC):c.479T>G (p.Ile160Ser)
|
rs67954347
|
|
NM_000531.6(OTC):c.481A>G (p.Asn161Asp)
|
rs72556270
|
|
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)
|
rs72556271
|
|
NM_000531.6(OTC):c.484G>A (p.Gly162Arg)
|
rs66626662
|
|
NM_000531.6(OTC):c.484G>C (p.Gly162Arg)
|
rs66626662
|
|
NM_000531.6(OTC):c.485G>A (p.Gly162Glu)
|
rs72556272
|
|
NM_000531.6(OTC):c.490T>C (p.Ser164Pro)
|
rs72556273
|
|
NM_000531.6(OTC):c.491C>G (p.Ser164Ter)
|
rs72556274
|
|
NM_000531.6(OTC):c.493G>T (p.Asp165Tyr)
|
rs72556275
|
|
NM_000531.6(OTC):c.494A>G (p.Asp165Gly)
|
rs1555975685
|
|
NM_000531.6(OTC):c.501C>A (p.Tyr167Ter)
|
rs66564822
|
|
NM_000531.6(OTC):c.501C>G (p.Tyr167Ter)
|
rs66564822
|
|
NM_000531.6(OTC):c.503A>C (p.His168Pro)
|
rs66867430
|
|
NM_000531.6(OTC):c.503A>G (p.His168Arg)
|
rs66867430
|
|
NM_000531.6(OTC):c.504T>A (p.His168Gln)
|
rs72556276
|
|
NM_000531.6(OTC):c.505C>G (p.Pro169Ala)
|
rs72556277
|
|
NM_000531.6(OTC):c.506C>T (p.Pro169Leu)
|
rs72556278
|
|
NM_000531.6(OTC):c.514A>T (p.Ile172Phe)
|
rs72556279
|
|
NM_000531.6(OTC):c.516C>G (p.Ile172Met)
|
rs72556280
|
|
NM_000531.6(OTC):c.520G>C (p.Ala174Pro)
|
rs72556281
|
|
NM_000531.6(OTC):c.524A>G (p.Asp175Gly)
|
rs68033093
|
|
NM_000531.6(OTC):c.524A>T (p.Asp175Val)
|
rs68033093
|
|
NM_000531.6(OTC):c.526T>C (p.Tyr176His)
|
rs72556282
|
|
NM_000531.6(OTC):c.527A>G (p.Tyr176Cys)
|
rs72556283
|
|
NM_000531.6(OTC):c.532_537del (p.Thr178_Leu179del)
|
rs72556285
|
|
NM_000531.6(OTC):c.533C>T (p.Thr178Met)
|
rs72556284
|
|
NM_000531.6(OTC):c.536T>C (p.Leu179Pro)
|
rs72556286
|
|
NM_000531.6(OTC):c.53del (p.His18fs)
|
rs72552299
|
|
NM_000531.6(OTC):c.540+1G>C
|
rs72556288
|
|
NM_000531.6(OTC):c.540+1G>T
|
rs72556288
|
|
NM_000531.6(OTC):c.540+265G>A
|
rs1555975756
|
|
NM_000531.6(OTC):c.540+2T>A
|
rs67367843
|
|
NM_000531.6(OTC):c.540+2T>C
|
rs67367843
|
|
NM_000531.6(OTC):c.540G>C (p.Gln180His)
|
rs72556287
|
|
NM_000531.6(OTC):c.541-2A>G
|
rs72556289
|
|
NM_000531.6(OTC):c.541-8C>T
|
rs1602030926
|
|
NM_000531.6(OTC):c.542A>G (p.Glu181Gly)
|
rs72556290
|
|
NM_000531.6(OTC):c.545A>T (p.His182Leu)
|
rs72556291
|
|
NM_000531.6(OTC):c.547T>G (p.Tyr183Asp)
|
rs72556292
|
|
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)
|
rs72556293
|
|
NM_000531.6(OTC):c.562G>C (p.Gly188Arg)
|
rs72556294
|
|
NM_000531.6(OTC):c.562_563del (p.Gly188fs)
|
rs796052016
|
|
NM_000531.6(OTC):c.563G>T (p.Gly188Val)
|
rs72556295
|
|
NM_000531.6(OTC):c.571C>T (p.Leu191Phe)
|
rs72556296
|
|
NM_000531.6(OTC):c.572T>G (p.Leu191Arg)
|
rs72556297
|
|
NM_000531.6(OTC):c.576C>G (p.Ser192Arg)
|
rs72556298
|
|
NM_000531.6(OTC):c.577T>C (p.Trp193Arg)
|
rs67284661
|
|
NM_000531.6(OTC):c.577T>G (p.Trp193Gly)
|
rs67284661
|
|
NM_000531.6(OTC):c.578G>A (p.Trp193Ter)
|
rs72556299
|
|
NM_000531.6(OTC):c.583G>A (p.Gly195Arg)
|
rs67294955
|
|
NM_000531.6(OTC):c.586G>A (p.Asp196Asn)
|
rs66642398
|
|
NM_000531.6(OTC):c.586G>T (p.Asp196Tyr)
|
rs66642398
|
|
NM_000531.6(OTC):c.586del (p.Asp196fs)
|
rs67294956
|
|
NM_000531.6(OTC):c.587A>T (p.Asp196Val)
|
rs72556300
|
|
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)
|
rs72556301
|
|
NM_000531.6(OTC):c.590G>A (p.Gly197Glu)
|
rs72556302
|
|
NM_000531.6(OTC):c.593A>T (p.Asn198Ile)
|
rs72558403
|
|
NM_000531.6(OTC):c.594C>A (p.Asn198Lys)
|
rs72558404
|
|
NM_000531.6(OTC):c.595A>G (p.Asn199Asp)
|
rs72558405
|
|
NM_000531.6(OTC):c.596A>G (p.Asn199Ser)
|
rs72558406
|
|
NM_000531.6(OTC):c.602T>C (p.Leu201Pro)
|
rs72558407
|
|
NM_000531.6(OTC):c.604C>T (p.His202Tyr)
|
rs72558408
|
|
NM_000531.6(OTC):c.605A>C (p.His202Pro)
|
rs72558409
|
|
NM_000531.6(OTC):c.608C>G (p.Ser203Cys)
|
rs72558410
|
|
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)
|
rs72558410
|
|
NM_000531.6(OTC):c.613A>G (p.Met205Val)
|
rs72558411
|
|
NM_000531.6(OTC):c.615G>C (p.Met205Ile)
|
rs796052012
|
|
NM_000531.6(OTC):c.617T>A (p.Met206Lys)
|
rs72558412
|
|
NM_000531.6(OTC):c.617T>G (p.Met206Arg)
|
rs72558412
|
|
NM_000531.6(OTC):c.618G>C (p.Met206Ile)
|
rs72558413
|
|
NM_000531.6(OTC):c.620G>A (p.Ser207Asn)
|
rs72558414
|
|
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)
|
rs72558415
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
NM_000531.6(OTC):c.626C>T (p.Ala209Val)
|
rs72558417
|
|
NM_000531.6(OTC):c.628A>C (p.Lys210Gln)
|
rs72558418
|
|
NM_000531.6(OTC):c.634G>T (p.Gly212Ter)
|
rs772049322
|
|
NM_000531.6(OTC):c.640C>T (p.His214Tyr)
|
rs72558420
|
|
NM_000531.6(OTC):c.643C>T (p.Leu215Phe)
|
rs72558421
|
|
NM_000531.6(OTC):c.645dup (p.Gln216fs)
|
rs72558422
|
|
NM_000531.6(OTC):c.646C>G (p.Gln216Glu)
|
rs72558423
|
|
NM_000531.6(OTC):c.650C>A (p.Ala217Glu)
|
rs72558424
|
|
NM_000531.6(OTC):c.650C>G (p.Ala217Gly)
|
rs72558424
|
|
NM_000531.6(OTC):c.658C>G (p.Pro220Ala)
|
rs72558425
|
|
NM_000531.6(OTC):c.659C>T (p.Pro220Leu)
|
rs72558426
|
|
NM_000531.6(OTC):c.662A>G (p.Lys221Arg)
|
|
|
NM_000531.6(OTC):c.663+1G>A
|
rs68170503
|
|
NM_000531.6(OTC):c.663+1G>T
|
rs68170503
|
|
NM_000531.6(OTC):c.663+2T>C
|
rs72558427
|
|
NM_000531.6(OTC):c.663G>A (p.Lys221=)
|
rs281865552
|
|
NM_000531.6(OTC):c.663G>C (p.Lys221Asn)
|
rs281865552
|
|
NM_000531.6(OTC):c.664-1G>A
|
rs67839036
|
|
NM_000531.6(OTC):c.664-287C>T
|
rs141787318
|
|
NM_000531.6(OTC):c.672G>A (p.Glu224=)
|
|
|
NM_000531.6(OTC):c.673C>A (p.Pro225Thr)
|
rs72558428
|
|
NM_000531.6(OTC):c.673C>T (p.Pro225Ser)
|
rs72558428
|
|
NM_000531.6(OTC):c.674C>G (p.Pro225Arg)
|
rs67120076
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_000531.6(OTC):c.67C>T (p.Arg23Ter)
|
rs72552300
|
|
NM_000531.6(OTC):c.698C>T (p.Ala233Val)
|
rs72558429
|
|
NM_000531.6(OTC):c.700G>T (p.Glu234Ter)
|
rs72558430
|
|
NM_000531.6(OTC):c.709_712delinsCCT (p.Ala237fs)
|
rs1602033095
|
|
NM_000531.6(OTC):c.713A>G (p.Lys238Arg)
|
|
|
NM_000531.6(OTC):c.716A>G (p.Glu239Gly)
|
rs67283833
|
|
NM_000531.6(OTC):c.716A>T (p.Glu239Val)
|
rs67283833
|
|
NM_000531.6(OTC):c.717+1G>A
|
rs66500027
|
|
NM_000531.6(OTC):c.717+1G>T
|
rs66500027
|
|
NM_000531.6(OTC):c.717+2T>C
|
rs72558431
|
|
NM_000531.6(OTC):c.717+3A>G
|
rs72558432
|
|
NM_000531.6(OTC):c.717+8_717+23del
|
rs111060774
|
|
NM_000531.6(OTC):c.717G>A (p.Glu239=)
|
rs66851495
|
|
NM_000531.6(OTC):c.717G>C (p.Glu239Asp)
|
rs66851495
|
|
NM_000531.6(OTC):c.718-2A>G
|
rs72558433
|
|
NM_000531.6(OTC):c.718-2_731del
|
rs72558434
|
|
NM_000531.6(OTC):c.725C>A (p.Thr242Asn)
|
rs72558435
|
|
NM_000531.6(OTC):c.725C>T (p.Thr242Ile)
|
rs72558435
|
|
NM_000531.6(OTC):c.731T>A (p.Leu244Gln)
|
rs72558436
|
|
NM_000531.6(OTC):c.731_739del (p.Leu244_Thr247delinsPro)
|
rs72558438
|
|
NM_000531.6(OTC):c.740C>A (p.Thr247Lys)
|
rs72558437
|
|
NM_000531.6(OTC):c.757G>A (p.Ala253Thr)
|
rs67330615
|
|
NM_000531.6(OTC):c.757G>C (p.Ala253Pro)
|
rs67330615
|
|
NM_000531.6(OTC):c.759del (p.Ala254fs)
|
rs72558439
|
|
NM_000531.6(OTC):c.764A>C (p.His255Pro)
|
rs72558440
|
|
NM_000531.6(OTC):c.77+1G>A
|
rs67077695
|
|
NM_000531.6(OTC):c.77+1G>T
|
rs67077695
|
|
NM_000531.6(OTC):c.77+3_77+6del
|
rs72558496
|
|
NM_000531.6(OTC):c.77+4A>C
|
rs72552301
|
|
NM_000531.6(OTC):c.77+5G>A
|
rs72552302
|
|
NM_000531.6(OTC):c.779T>C (p.Leu260Ser)
|
rs72558441
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
NM_000531.6(OTC):c.77G>C (p.Arg26Pro)
|
rs68031618
|
|
NM_000531.6(OTC):c.78-102_78-99del
|
rs771404957
|
|
NM_000531.6(OTC):c.78-103dup
|
rs755821521
|
|
NM_000531.6(OTC):c.78-1G>C
|
rs281865554
|
|
NM_000531.6(OTC):c.78-208C>T
|
rs141768896
|
|
NM_000531.6(OTC):c.78-3C>G
|
rs72554303
|
|
NM_000531.6(OTC):c.785C>A (p.Thr262Lys)
|
rs67333670
|
|
NM_000531.6(OTC):c.785C>T (p.Thr262Ile)
|
rs67333670
|
|
NM_000531.6(OTC):c.787G>A (p.Asp263Asn)
|
rs72558442
|
|
NM_000531.6(OTC):c.788A>G (p.Asp263Gly)
|
rs72558443
|
|
NM_000531.6(OTC):c.790A>G (p.Thr264Ala)
|
rs72558444
|
|
NM_000531.6(OTC):c.791C>A (p.Thr264Asn)
|
rs67156896
|
|
NM_000531.6(OTC):c.791C>T (p.Thr264Ile)
|
rs67156896
|
|
NM_000531.6(OTC):c.793T>C (p.Trp265Arg)
|
rs72558445
|
|
NM_000531.6(OTC):c.794G>T (p.Trp265Leu)
|
rs72558446
|
|
NM_000531.6(OTC):c.795G>A (p.Trp265Ter)
|
rs72558447
|
|
NM_000531.6(OTC):c.799A>C (p.Ser267Arg)
|
rs72558448
|
|
NM_000531.6(OTC):c.803T>C (p.Met268Thr)
|
rs72558449
|
|
NM_000531.6(OTC):c.806G>A (p.Gly269Glu)
|
rs72558450
|
|
NM_000531.6(OTC):c.808C>T (p.Gln270Ter)
|
rs72558451
|
|
NM_000531.6(OTC):c.809A>C (p.Gln270Pro)
|
rs1800328
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.818del (p.Glu273fs)
|
rs72558453
|
|
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)
|
rs72558454
|
|
NM_000531.6(OTC):c.830G>A (p.Arg277Gln)
|
rs66724222
|
|
NM_000531.6(OTC):c.830G>T (p.Arg277Leu)
|
rs66724222
|
|
NM_000531.6(OTC):c.835C>T (p.Gln279Ter)
|
rs72558455
|
|
NM_000531.6(OTC):c.840T>G (p.Ala280=)
|
rs2147345258
|
|
NM_000531.6(OTC):c.867+1G>A
|
rs66512766
|
|
NM_000531.6(OTC):c.867+1G>T
|
rs66512766
|
|
NM_000531.6(OTC):c.867G>T (p.Lys289Asn)
|
rs72558456
|
|
NM_000531.6(OTC):c.868-182dup
|
rs368534980
|
|
NM_000531.6(OTC):c.868-183_868-182dup
|
rs368534980
|
|
NM_000531.6(OTC):c.868-184_868-182dup
|
rs368534980
|
|
NM_000531.6(OTC):c.868-2A>T
|
rs1064796335
|
|
NM_000531.6(OTC):c.868-3T>C
|
rs398123459
|
|
NM_000531.6(OTC):c.870T>C (p.Thr290=)
|
rs794727959
|
|
NM_000531.6(OTC):c.874A>G (p.Lys292Glu)
|
rs759069042
|
|
NM_000531.6(OTC):c.876del (p.Val293fs)
|
rs72558457
|
|
NM_000531.6(OTC):c.882del (p.Ala295fs)
|
rs72558458
|
|
NM_000531.6(OTC):c.890_893del (p.Asp297fs)
|
rs72558459
|
|
NM_000531.6(OTC):c.892_893del (p.Trp298fs)
|
rs72558460
|
|
NM_000531.6(OTC):c.893G>C (p.Trp298Ser)
|
rs72558461
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
NM_000531.6(OTC):c.904C>T (p.His302Tyr)
|
rs72558463
|
|
NM_000531.6(OTC):c.905A>G (p.His302Arg)
|
rs67993095
|
|
NM_000531.6(OTC):c.905A>T (p.His302Leu)
|
rs67993095
|
|
NM_000531.6(OTC):c.906C>G (p.His302Gln)
|
rs67870244
|
|
NM_000531.6(OTC):c.906del (p.Cys303fs)
|
rs67870245
|
|
NM_000531.6(OTC):c.907T>C (p.Cys303Arg)
|
rs67468335
|
|
NM_000531.6(OTC):c.907T>G (p.Cys303Gly)
|
rs67468335
|
|
NM_000531.6(OTC):c.908G>A (p.Cys303Tyr)
|
rs72558464
|
|
NM_000531.6(OTC):c.912G>T (p.Leu304Phe)
|
rs72558465
|
|
NM_000531.6(OTC):c.914C>A (p.Pro305His)
|
rs67501347
|
|
NM_000531.6(OTC):c.914C>G (p.Pro305Arg)
|
rs67501347
|
|
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)
|
rs796052013
|
|
NM_000531.6(OTC):c.928G>T (p.Glu310Ter)
|
rs72558466
|
|
NM_000531.6(OTC):c.929A>G (p.Glu310Gly)
|
rs72558467
|
|
NM_000531.6(OTC):c.931G>A (p.Val311Met)
|
rs72558468
|
|
NM_000531.6(OTC):c.941_943del (p.Glu314del)
|
rs72558469
|
|
NM_000531.6(OTC):c.943G>T (p.Val315Phe)
|
rs72558470
|
|
NM_000531.6(OTC):c.944T>A (p.Val315Asp)
|
rs67414444
|
|
NM_000531.6(OTC):c.944T>G (p.Val315Gly)
|
rs67414444
|
|
NM_000531.6(OTC):c.947T>C (p.Phe316Ser)
|
rs72558471
|
|
NM_000531.6(OTC):c.94C>T (p.Gln32Ter)
|
rs72554304
|
|
NM_000531.6(OTC):c.953C>T (p.Ser318Phe)
|
rs72558472
|
|
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)
|
rs72558473
|
|
NM_000531.6(OTC):c.959G>T (p.Arg320Leu)
|
rs72558474
|
|
NM_000531.6(OTC):c.962C>A (p.Ser321Ter)
|
rs72558475
|
|
NM_000531.6(OTC):c.976G>A (p.Glu326Lys)
|
rs72558476
|
|
NM_000531.6(OTC):c.982G>T (p.Glu328Ter)
|
rs72558477
|
|
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)
|
rs72558478
|
|
NM_000531.6(OTC):c.991A>T (p.Lys331Ter)
|
rs72558479
|
|
NM_000531.6(OTC):c.994T>A (p.Trp332Arg)
|
rs72558480
|
|
NM_000531.6(OTC):c.995G>A (p.Trp332Ter)
|
rs72558481
|
|
NM_000531.6(OTC):c.996G>A (p.Trp332Ter)
|
rs72558482
|
|