NM_000531.6(OTC):c.-359G>A
|
rs5917573
|
0.69913
|
NM_001407092.1(OTC):c.-79-582C>T
|
rs5963412
|
0.69728
|
NM_000531.3(OTC):c.-441G=
|
rs5917572
|
0.69636
|
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.-365G>A
|
rs5963030
|
0.13285
|
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.751T>C (p.Leu251=)
|
rs36005267
|
0.00722
|
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.429T>C (p.Tyr143=)
|
rs145777402
|
0.00341
|
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.534G>A (p.Thr178=)
|
rs775895740
|
0.00012
|
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.541-11G>A
|
rs374923521
|
0.00006
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_000531.6(OTC):c.540+264C>T
|
rs997341002
|
0.00005
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
NM_000531.6(OTC):c.717+11T>C
|
rs772850466
|
0.00002
|
NM_000531.6(OTC):c.762G>T (p.Ala254=)
|
rs1388386866
|
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.520G>A (p.Ala174Thr)
|
rs72556281
|
0.00001
|
NM_000531.6(OTC):c.847G>C (p.Gly283Arg)
|
rs2068530349
|
0.00001
|
NC_000023.11:g.38352178TTCT[1]
|
rs57752938
|
|
NM_000531.6(OTC):c.1005+132dup
|
rs3215429
|
|
NM_000531.6(OTC):c.114G>A (p.Lys38=)
|
rs1057522000
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000531.6(OTC):c.156A>T (p.Glu52Asp)
|
rs72554318
|
|
NM_000531.6(OTC):c.197G>A (p.Arg66Lys)
|
|
|
NM_000531.6(OTC):c.216+1del
|
rs886041526
|
|
NM_000531.6(OTC):c.216+280ATTT[7]
|
rs200633699
|
|
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.258dup (p.Glu87Ter)
|
|
|
NM_000531.6(OTC):c.274C>T (p.Arg92Ter)
|
rs67418243
|
|
NM_000531.6(OTC):c.298+1G>T
|
rs68058881
|
|
NM_000531.6(OTC):c.298+2T>G
|
rs1555972538
|
|
NM_000531.6(OTC):c.298+9A>G
|
rs376393166
|
|
NM_000531.6(OTC):c.299-34dup
|
rs398122026
|
|
NM_000531.6(OTC):c.322C>G (p.Pro108Ala)
|
|
|
NM_000531.6(OTC):c.354G>A (p.Leu118=)
|
rs1057518540
|
|
NM_000531.6(OTC):c.363T>A (p.Asn121Lys)
|
|
|
NM_000531.6(OTC):c.365A>G (p.Glu122Gly)
|
rs1131691517
|
|
NM_000531.6(OTC):c.386+1G>A
|
rs66737144
|
|
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)
|
rs68026851
|
|
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)
|
rs72556271
|
|
NM_000531.6(OTC):c.494A>G (p.Asp165Gly)
|
rs1555975685
|
|
NM_000531.6(OTC):c.533C>T (p.Thr178Met)
|
rs72556284
|
|
NM_000531.6(OTC):c.540+1G>T
|
rs72556288
|
|
NM_000531.6(OTC):c.540+265G>A
|
rs1555975756
|
|
NM_000531.6(OTC):c.562_563del (p.Gly188fs)
|
rs796052016
|
|
NM_000531.6(OTC):c.583G>A (p.Gly195Arg)
|
rs67294955
|
|
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)
|
rs72556301
|
|
NM_000531.6(OTC):c.596A>G (p.Asn199Ser)
|
rs72558406
|
|
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.621C>A (p.Ser207Arg)
|
rs72558415
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
NM_000531.6(OTC):c.634G>T (p.Gly212Ter)
|
rs772049322
|
|
NM_000531.6(OTC):c.650C>G (p.Ala217Gly)
|
rs72558424
|
|
NM_000531.6(OTC):c.662A>G (p.Lys221Arg)
|
|
|
NM_000531.6(OTC):c.663+1G>T
|
rs68170503
|
|
NM_000531.6(OTC):c.664-287C>T
|
rs141787318
|
|
NM_000531.6(OTC):c.673C>T (p.Pro225Ser)
|
rs72558428
|
|
NM_000531.6(OTC):c.67C>T (p.Arg23Ter)
|
rs72552300
|
|
NM_000531.6(OTC):c.709_712delinsCCT (p.Ala237fs)
|
rs1602033095
|
|
NM_000531.6(OTC):c.713A>G (p.Lys238Arg)
|
|
|
NM_000531.6(OTC):c.77+9T>A
|
rs1555971033
|
|
NM_000531.6(OTC):c.78-102_78-99del
|
rs771404957
|
|
NM_000531.6(OTC):c.78-103dup
|
rs755821521
|
|
NM_000531.6(OTC):c.78-208C>T
|
rs141768896
|
|
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)
|
rs72558454
|
|
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.87A>G (p.Gln29=)
|
rs1057524369
|
|
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)
|
rs796052013
|
|
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)
|
rs72558478
|
|