NM_000531.6(OTC):c.77+3054A>G
|
rs4537439
|
0.48094
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
NM_000531.6(OTC):c.299-8T>A
|
rs73196229
|
0.15031
|
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.751T>C (p.Leu251=)
|
rs36005267
|
0.00722
|
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.298+5G>C
|
rs72554348
|
0.00058
|
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)
|
rs137899554
|
0.00028
|
NM_000531.6(OTC):c.663+17C>T
|
rs777660144
|
0.00024
|
NM_000531.6(OTC):c.582C>T (p.Ile194=)
|
rs200564773
|
0.00018
|
NM_000531.6(OTC):c.390A>G (p.Val130=)
|
rs149795059
|
0.00013
|
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)
|
rs199858968
|
0.00013
|
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.1006-14T>C
|
rs188215770
|
0.00010
|
NM_000531.6(OTC):c.127C>A (p.Leu43Ile)
|
rs72554309
|
0.00010
|
NM_000531.6(OTC):c.626C>G (p.Ala209Gly)
|
rs72558417
|
0.00009
|
NM_000531.6(OTC):c.675G>A (p.Pro225=)
|
rs376129619
|
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.1005+11A>T
|
rs375524303
|
0.00005
|
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.372C>T (p.Leu124=)
|
rs201070935
|
0.00005
|
NM_000531.6(OTC):c.621C>T (p.Ser207=)
|
rs72558415
|
0.00005
|
NM_000531.6(OTC):c.299-7dup
|
rs374145788
|
0.00004
|
NM_000531.6(OTC):c.360G>A (p.Val120=)
|
rs768780957
|
0.00004
|
NM_000531.6(OTC):c.498G>T (p.Leu166Phe)
|
rs759911602
|
0.00004
|
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)
|
rs752916728
|
0.00004
|
NM_000531.6(OTC):c.196A>C (p.Arg66=)
|
rs369756595
|
0.00003
|
NM_000531.6(OTC):c.270T>C (p.Ser90=)
|
rs72554342
|
0.00003
|
NM_000531.6(OTC):c.717+8C>T
|
rs769353645
|
0.00003
|
NM_000531.6(OTC):c.963A>G (p.Ser321=)
|
rs1387377929
|
0.00003
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
NM_000531.6(OTC):c.375G>A (p.Thr125=)
|
rs371075231
|
0.00002
|
NM_000531.6(OTC):c.380C>T (p.Thr127Met)
|
rs762910963
|
0.00002
|
NM_000531.6(OTC):c.403G>A (p.Ala135Thr)
|
rs770910923
|
0.00002
|
NM_000531.6(OTC):c.717+11T>C
|
rs772850466
|
0.00002
|
NM_000531.6(OTC):c.761C>T (p.Ala254Val)
|
rs781179862
|
0.00002
|
NM_000531.6(OTC):c.762G>T (p.Ala254=)
|
rs1388386866
|
0.00002
|
NM_000531.6(OTC):c.764A>G (p.His255Arg)
|
rs72558440
|
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.868-16A>G
|
rs767308398
|
0.00002
|
NM_000531.6(OTC):c.89C>A (p.Pro30Gln)
|
rs753712951
|
0.00002
|
NM_000531.6(OTC):c.906C>T (p.His302=)
|
rs67870244
|
0.00002
|
NM_000531.6(OTC):c.105G>A (p.Val35=)
|
rs757207910
|
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.171A>G (p.Leu57=)
|
rs924740805
|
0.00001
|
NM_000531.6(OTC):c.217-13C>G
|
rs1465869489
|
0.00001
|
NM_000531.6(OTC):c.283T>C (p.Leu95=)
|
rs771474981
|
0.00001
|
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
NM_000531.6(OTC):c.345T>C (p.Asp115=)
|
rs755849455
|
0.00001
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
NM_000531.6(OTC):c.401T>C (p.Met134Thr)
|
rs1380616457
|
0.00001
|
NM_000531.6(OTC):c.417G>A (p.Leu139=)
|
rs1416217766
|
0.00001
|
NM_000531.6(OTC):c.426G>A (p.Val142=)
|
rs760271775
|
0.00001
|
NM_000531.6(OTC):c.522T>G (p.Ala174=)
|
rs749594331
|
0.00001
|
NM_000531.6(OTC):c.540+10T>C
|
rs1333367271
|
0.00001
|
NM_000531.6(OTC):c.540+1G>A
|
rs72556288
|
0.00001
|
NM_000531.6(OTC):c.556C>T (p.Leu186=)
|
rs1337833268
|
0.00001
|
NM_000531.6(OTC):c.567T>C (p.Leu189=)
|
rs1401331899
|
0.00001
|
NM_000531.6(OTC):c.591G>A (p.Gly197=)
|
rs1569279948
|
0.00001
|
NM_000531.6(OTC):c.609C>T (p.Ser203=)
|
rs1354432045
|
0.00001
|
NM_000531.6(OTC):c.627G>A (p.Ala209=)
|
rs745635680
|
0.00001
|
NM_000531.6(OTC):c.663+7A>C
|
rs767994989
|
0.00001
|
NM_000531.6(OTC):c.66T>C (p.Val22=)
|
rs1237799169
|
0.00001
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
0.00001
|
NM_000531.6(OTC):c.708T>C (p.Tyr236=)
|
rs754974144
|
0.00001
|
NM_000531.6(OTC):c.717+5G>A
|
rs747637190
|
0.00001
|
NM_000531.6(OTC):c.722G>A (p.Gly241Asp)
|
rs1461226043
|
0.00001
|
NM_000531.6(OTC):c.736C>G (p.Leu246Val)
|
rs1168053730
|
0.00001
|
NM_000531.6(OTC):c.77+7G>A
|
rs745462108
|
0.00001
|
NM_000531.6(OTC):c.774T>C (p.Asn258=)
|
rs777282515
|
0.00001
|
NM_000531.6(OTC):c.777A>G (p.Val259=)
|
rs1231550367
|
0.00001
|
NM_000531.6(OTC):c.867+8T>C
|
rs1190812009
|
0.00001
|
NM_000531.6(OTC):c.868-14C>T
|
rs1488225008
|
0.00001
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
NM_000531.6(OTC):c.945C>A (p.Val315=)
|
rs1296441032
|
0.00001
|
NC_000023.10:g.(?_30326313)_(41000684_?)del
|
|
|
NC_000023.10:g.(?_37545215)_(38280335_?)del
|
|
|
NC_000023.10:g.(?_37639262)_(38212036_?)dup
|
|
|
NC_000023.10:g.(?_38128879)_(38280335_?)del
|
|
|
NC_000023.10:g.(?_38128879)_(38280335_?)dup
|
|
|
NC_000023.10:g.(?_38210736)_(38281703_?)del
|
|
|
NC_000023.10:g.(?_38211793)_(38212046_?)del
|
|
|
NC_000023.10:g.(?_38229029)_(38229150_?)del
|
|
|
NC_000023.10:g.(?_38240585)_(38272343_?)del
|
|
|
NC_000023.10:g.(?_38262851)_(38263013_?)del
|
|
|
NC_000023.11:g.(?_38352331)_(38352793_?)del
|
|
|
NC_000023.11:g.(?_38352331)_(38352793_?)dup
|
|
|
NC_000023.11:g.(?_38367271)_(38367449_?)del
|
|
|
NC_000023.11:g.(?_38381322)_(38413090_?)del
|
|
|
NC_000023.11:g.(?_38401255)_(38401693_?)del
|
|
|
NM_000531.5(OTC):c.-106C>A
|
rs749748052
|
|
NM_000531.5(OTC):c.-116C>T
|
rs1555971006
|
|
NM_000531.5(OTC):c.-142G>A
|
rs1555971000
|
|
NM_000531.6(OTC):c.1002C>A (p.Ile334=)
|
|
|
NM_000531.6(OTC):c.1005+12A>G
|
|
|
NM_000531.6(OTC):c.1005+20T>C
|
|
|
NM_000531.6(OTC):c.1005G>A (p.Met335Ile)
|
rs281865553
|
|
NM_000531.6(OTC):c.1006-13G>A
|
|
|
NM_000531.6(OTC):c.1006-6C>T
|
rs2147349912
|
|
NM_000531.6(OTC):c.1008T>A (p.Ala336=)
|
|
|
NM_000531.6(OTC):c.1012A>C (p.Met338Leu)
|
|
|
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
NM_000531.6(OTC):c.1020C>T (p.Ser340=)
|
|
|
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)
|
rs2068592611
|
|
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro)
|
rs2068592679
|
|
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
|
|
|
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)
|
rs72558491
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)
|
|
|
NM_000531.6(OTC):c.1039C>T (p.Pro347Ser)
|
|
|
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)
|
rs2147349974
|
|
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)
|
|
|
NM_000531.6(OTC):c.114G>A (p.Lys38=)
|
rs1057522000
|
|
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
|
rs1602014500
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000531.6(OTC):c.119G>T (p.Arg40Leu)
|
|
|
NM_000531.6(OTC):c.122A>G (p.Asp41Gly)
|
rs74518351
|
|
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
|
|
|
NM_000531.6(OTC):c.132T>C (p.Thr44=)
|
|
|
NM_000531.6(OTC):c.134T>G (p.Leu45Arg)
|
|
|
NM_000531.6(OTC):c.139A>C (p.Asn47His)
|
|
|
NM_000531.6(OTC):c.140A>T (p.Asn47Ile)
|
rs67939655
|
|
NM_000531.6(OTC):c.144T>C (p.Phe48=)
|
|
|
NM_000531.6(OTC):c.146C>T (p.Thr49Ile)
|
|
|
NM_000531.6(OTC):c.147C>G (p.Thr49=)
|
rs144153859
|
|
NM_000531.6(OTC):c.149G>C (p.Gly50Ala)
|
rs201802621
|
|
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.158T>C (p.Ile53Thr)
|
rs66677059
|
|
NM_000531.6(OTC):c.162A>G (p.Lys54=)
|
rs2147323601
|
|
NM_000531.6(OTC):c.177dup (p.Ser60fs)
|
rs2068302240
|
|
NM_000531.6(OTC):c.188T>C (p.Leu63Pro)
|
rs72554324
|
|
NM_000531.6(OTC):c.195T>C (p.Phe65=)
|
|
|
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)
|
rs72554326
|
|
NM_000531.6(OTC):c.210A>G (p.Lys70=)
|
|
|
NM_000531.6(OTC):c.216+15C>A
|
|
|
NM_000531.6(OTC):c.216+15C>T
|
|
|
NM_000531.6(OTC):c.216+19T>C
|
|
|
NM_000531.6(OTC):c.216+1G>A
|
rs66693137
|
|
NM_000531.6(OTC):c.216+5G>A
|
|
|
NM_000531.6(OTC):c.216+8A>G
|
rs2147323670
|
|
NM_000531.6(OTC):c.217-15G>A
|
|
|
NM_000531.6(OTC):c.217-4A>G
|
rs2147324923
|
|
NM_000531.6(OTC):c.217-5TA[4]
|
rs759829103
|
|
NM_000531.6(OTC):c.229T>C (p.Leu77=)
|
|
|
NM_000531.6(OTC):c.231G>T (p.Leu77Phe)
|
rs72554329
|
|
NM_000531.6(OTC):c.241T>C (p.Ser81Pro)
|
rs2147324956
|
|
NM_000531.6(OTC):c.242C>T (p.Ser81Phe)
|
rs2068314927
|
|
NM_000531.6(OTC):c.244T>C (p.Leu82=)
|
rs1356711812
|
|
NM_000531.6(OTC):c.25T>C (p.Leu9=)
|
rs1440140895
|
|
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)
|
rs2068315148
|
|
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.292G>A (p.Glu98Lys)
|
rs72554347
|
|
NM_000531.6(OTC):c.298+14C>G
|
|
|
NM_000531.6(OTC):c.298+18T>A
|
|
|
NM_000531.6(OTC):c.298+1G>A
|
rs68058881
|
|
NM_000531.6(OTC):c.298+2T>G
|
rs1555972538
|
|
NM_000531.6(OTC):c.298+2dup
|
rs1555972540
|
|
NM_000531.6(OTC):c.298+3_298+6del
|
rs2068315608
|
|
NM_000531.6(OTC):c.298+8C>T
|
|
|
NM_000531.6(OTC):c.299-11T>C
|
|
|
NM_000531.6(OTC):c.299-16T>C
|
|
|
NM_000531.6(OTC):c.299-18del
|
|
|
NM_000531.6(OTC):c.299-2A>G
|
rs2147330536
|
|
NM_000531.6(OTC):c.299-5T>C
|
rs377576551
|
|
NM_000531.6(OTC):c.299-7A>T
|
|
|
NM_000531.6(OTC):c.299-8del
|
rs764551624
|
|
NM_000531.6(OTC):c.299-8dup
|
rs764551624
|
|
NM_000531.6(OTC):c.299-9_299-8dup
|
|
|
NM_000531.6(OTC):c.2T>C (p.Met1Thr)
|
rs72552295
|
|
NM_000531.6(OTC):c.303T>C (p.Phe101=)
|
|
|
NM_000531.6(OTC):c.303del (p.Phe101fs)
|
rs1400669703
|
|
NM_000531.6(OTC):c.306A>T (p.Ala102=)
|
|
|
NM_000531.6(OTC):c.307C>T (p.Leu103Phe)
|
rs779154479
|
|
NM_000531.6(OTC):c.30C>T (p.Asn10=)
|
|
|
NM_000531.6(OTC):c.311T>A (p.Leu104Gln)
|
|
|
NM_000531.6(OTC):c.323C>G (p.Pro108Arg)
|
|
|
NM_000531.6(OTC):c.32A>G (p.Asn11Ser)
|
|
|
NM_000531.6(OTC):c.33T>C (p.Asn11=)
|
rs2147315497
|
|
NM_000531.6(OTC):c.344A>G (p.Asp115Gly)
|
|
|
NM_000531.6(OTC):c.348T>A (p.Ile116=)
|
|
|
NM_000531.6(OTC):c.350A>C (p.His117Pro)
|
|
|
NM_000531.6(OTC):c.352T>C (p.Leu118=)
|
rs2068375753
|
|
NM_000531.6(OTC):c.357T>C (p.Gly119=)
|
rs2068375897
|
|
NM_000531.6(OTC):c.365A>G (p.Glu122Gly)
|
rs1131691517
|
|
NM_000531.6(OTC):c.369T>A (p.Ser123Arg)
|
|
|
NM_000531.6(OTC):c.370C>T (p.Leu124Phe)
|
|
|
NM_000531.6(OTC):c.376G>A (p.Asp126Asn)
|
|
|
NM_000531.6(OTC):c.381G>A (p.Thr127=)
|
|
|
NM_000531.6(OTC):c.386+10T>A
|
rs2068376461
|
|
NM_000531.6(OTC):c.386+9A>G
|
|
|
NM_000531.6(OTC):c.386+9del
|
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
NM_000531.6(OTC):c.387-11G>A
|
rs2147341204
|
|
NM_000531.6(OTC):c.387-18T>C
|
|
|
NM_000531.6(OTC):c.387-19T>G
|
|
|
NM_000531.6(OTC):c.387-2A>T
|
rs66556380
|
|
NM_000531.6(OTC):c.387-5C>A
|
rs2147341209
|
|
NM_000531.6(OTC):c.387T>C (p.Arg129=)
|
|
|
NM_000531.6(OTC):c.395C>A (p.Ser132Tyr)
|
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.403G>C (p.Ala135Pro)
|
rs770910923
|
|
NM_000531.6(OTC):c.415T>C (p.Leu139=)
|
|
|
NM_000531.6(OTC):c.416T>C (p.Leu139Ser)
|
rs72556259
|
|
NM_000531.6(OTC):c.419C>T (p.Ala140Val)
|
rs2147341270
|
|
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.425T>G (p.Val142Gly)
|
rs72556261
|
|
NM_000531.6(OTC):c.429T>A (p.Tyr143Ter)
|
rs145777402
|
|
NM_000531.6(OTC):c.435A>G (p.Gln145=)
|
|
|
NM_000531.6(OTC):c.439G>C (p.Asp147His)
|
|
|
NM_000531.6(OTC):c.441T>C (p.Asp147=)
|
rs2147341316
|
|
NM_000531.6(OTC):c.448A>G (p.Thr150Ala)
|
|
|
NM_000531.6(OTC):c.448A>T (p.Thr150Ser)
|
|
|
NM_000531.6(OTC):c.449C>A (p.Thr150Asn)
|
rs766735977
|
|
NM_000531.6(OTC):c.449C>T (p.Thr150Ile)
|
rs766735977
|
|
NM_000531.6(OTC):c.450C>T (p.Thr150=)
|
|
|
NM_000531.6(OTC):c.451del (p.Leu151fs)
|
rs72556264
|
|
NM_000531.6(OTC):c.452T>C (p.Leu151Pro)
|
rs72556265
|
|
NM_000531.6(OTC):c.459A>G (p.Lys153=)
|
rs2147341336
|
|
NM_000531.6(OTC):c.460G>T (p.Glu154Ter)
|
rs72556267
|
|
NM_000531.6(OTC):c.465A>G (p.Ala155=)
|
rs2147341344
|
|
NM_000531.6(OTC):c.473C>G (p.Pro158Arg)
|
rs2068485732
|
|
NM_000531.6(OTC):c.474A>G (p.Pro158=)
|
rs2147341354
|
|
NM_000531.6(OTC):c.478A>T (p.Ile160Phe)
|
rs2147341364
|
|
NM_000531.6(OTC):c.480C>G (p.Ile160Met)
|
|
|
NM_000531.6(OTC):c.480C>T (p.Ile160=)
|
rs2147341370
|
|
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)
|
rs72556271
|
|
NM_000531.6(OTC):c.483T>C (p.Asn161=)
|
rs72558497
|
|
NM_000531.6(OTC):c.484G>C (p.Gly162Arg)
|
rs66626662
|
|
NM_000531.6(OTC):c.485G>C (p.Gly162Ala)
|
rs72556272
|
|
NM_000531.6(OTC):c.485G>T (p.Gly162Val)
|
rs72556272
|
|
NM_000531.6(OTC):c.487C>T (p.Leu163=)
|
rs2147341395
|
|
NM_000531.6(OTC):c.489G>A (p.Leu163=)
|
rs756269281
|
|
NM_000531.6(OTC):c.4C>T (p.Leu2=)
|
|
|
NM_000531.6(OTC):c.501C>T (p.Tyr167=)
|
|
|
NM_000531.6(OTC):c.503A>G (p.His168Arg)
|
rs66867430
|
|
NM_000531.6(OTC):c.505C>G (p.Pro169Ala)
|
rs72556277
|
|
NM_000531.6(OTC):c.505C>T (p.Pro169Ser)
|
rs72556277
|
|
NM_000531.6(OTC):c.510C>T (p.Ile170=)
|
|
|
NM_000531.6(OTC):c.516C>A (p.Ile172=)
|
|
|
NM_000531.6(OTC):c.523G>A (p.Asp175Asn)
|
rs2068486828
|
|
NM_000531.6(OTC):c.528C>T (p.Tyr176=)
|
|
|
NM_000531.6(OTC):c.529C>T (p.Leu177Phe)
|
|
|
NM_000531.6(OTC):c.530T>C (p.Leu177Pro)
|
rs2068487036
|
|
NM_000531.6(OTC):c.530T>G (p.Leu177Arg)
|
rs2068487036
|
|
NM_000531.6(OTC):c.531C>G (p.Leu177=)
|
|
|
NM_000531.6(OTC):c.531C>T (p.Leu177=)
|
|
|
NM_000531.6(OTC):c.533C>T (p.Thr178Met)
|
rs72556284
|
|
NM_000531.6(OTC):c.535C>G (p.Leu179Val)
|
rs2068487136
|
|
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)
|
rs2068487136
|
|
NM_000531.6(OTC):c.537C>G (p.Leu179=)
|
|
|
NM_000531.6(OTC):c.539A>C (p.Gln180Pro)
|
rs2147341500
|
|
NM_000531.6(OTC):c.540+16del
|
|
|
NM_000531.6(OTC):c.540+17G>A
|
|
|
NM_000531.6(OTC):c.540+17G>T
|
|
|
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.540G>C (p.Gln180His)
|
rs72556287
|
|
NM_000531.6(OTC):c.541-12C>A
|
rs2068500853
|
|
NM_000531.6(OTC):c.541-14C>T
|
|
|
NM_000531.6(OTC):c.546C>T (p.His182=)
|
|
|
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)
|
rs72556293
|
|
NM_000531.6(OTC):c.54C>A (p.His18Gln)
|
rs2147315516
|
|
NM_000531.6(OTC):c.54C>T (p.His18=)
|
rs2147315516
|
|
NM_000531.6(OTC):c.558G>A (p.Leu186=)
|
rs2147342624
|
|
NM_000531.6(OTC):c.562G>A (p.Gly188Ser)
|
rs72556294
|
|
NM_000531.6(OTC):c.568dup (p.Thr190fs)
|
rs2068501144
|
|
NM_000531.6(OTC):c.570C>T (p.Thr190=)
|
|
|
NM_000531.6(OTC):c.577T>C (p.Trp193Arg)
|
rs67284661
|
|
NM_000531.6(OTC):c.579G>T (p.Trp193Cys)
|
rs2147342649
|
|
NM_000531.6(OTC):c.582C>A (p.Ile194=)
|
rs200564773
|
|
NM_000531.6(OTC):c.583G>A (p.Gly195Arg)
|
rs67294955
|
|
NM_000531.6(OTC):c.585G>A (p.Gly195=)
|
rs1800327
|
|
NM_000531.6(OTC):c.588T>A (p.Asp196Glu)
|
rs2068501518
|
|
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)
|
rs72556301
|
|
NM_000531.6(OTC):c.593A>G (p.Asn198Ser)
|
rs72558403
|
|
NM_000531.6(OTC):c.597T>C (p.Asn199=)
|
|
|
NM_000531.6(OTC):c.601C>T (p.Leu201=)
|
rs2147342708
|
|
NM_000531.6(OTC):c.602T>C (p.Leu201Pro)
|
rs72558407
|
|
NM_000531.6(OTC):c.604C>G (p.His202Asp)
|
rs72558408
|
|
NM_000531.6(OTC):c.609del (p.Ile204fs)
|
|
|
NM_000531.6(OTC):c.613A>G (p.Met205Val)
|
rs72558411
|
|
NM_000531.6(OTC):c.614T>A (p.Met205Lys)
|
rs2068501940
|
|
NM_000531.6(OTC):c.614T>C (p.Met205Thr)
|
rs2068501940
|
|
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.61A>G (p.Met21Val)
|
rs755909408
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
|
|
|
NM_000531.6(OTC):c.626C>A (p.Ala209Glu)
|
rs72558417
|
|
NM_000531.6(OTC):c.626C>T (p.Ala209Val)
|
rs72558417
|
|
NM_000531.6(OTC):c.629A>C (p.Lys210Thr)
|
rs2068502349
|
|
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
|
|
|
NM_000531.6(OTC):c.633C>T (p.Phe211=)
|
rs2147342757
|
|
NM_000531.6(OTC):c.634G>A (p.Gly212Arg)
|
|
|
NM_000531.6(OTC):c.636A>C (p.Gly212=)
|
|
|
NM_000531.6(OTC):c.641A>G (p.His214Arg)
|
|
|
NM_000531.6(OTC):c.642C>A (p.His214Gln)
|
|
|
NM_000531.6(OTC):c.642C>T (p.His214=)
|
rs1602031079
|
|
NM_000531.6(OTC):c.652G>C (p.Ala218Pro)
|
rs2068502738
|
|
NM_000531.6(OTC):c.653_663del (p.Ala218fs)
|
rs2147342791
|
|
NM_000531.6(OTC):c.663+13T>C
|
|
|
NM_000531.6(OTC):c.663+1G>T
|
rs68170503
|
|
NM_000531.6(OTC):c.663+2T>C
|
rs72558427
|
|
NM_000531.6(OTC):c.663+7A>G
|
rs767994989
|
|
NM_000531.6(OTC):c.663+7_663+10delinsTGCA
|
rs2147342809
|
|
NM_000531.6(OTC):c.663+9A>T
|
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
NM_000531.6(OTC):c.664-13C>A
|
|
|
NM_000531.6(OTC):c.664-7C>T
|
|
|
NM_000531.6(OTC):c.664-8T>C
|
|
|
NM_000531.6(OTC):c.664-9C>T
|
|
|
NM_000531.6(OTC):c.664G>A (p.Gly222Ser)
|
|
|
NM_000531.6(OTC):c.672G>A (p.Glu224=)
|
|
|
NM_000531.6(OTC):c.673C>T (p.Pro225Ser)
|
rs72558428
|
|
NM_000531.6(OTC):c.674C>A (p.Pro225Gln)
|
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.681T>C (p.Ala227=)
|
|
|
NM_000531.6(OTC):c.689C>A (p.Thr230Asn)
|
|
|
NM_000531.6(OTC):c.694T>C (p.Leu232=)
|
rs2147344980
|
|
NM_000531.6(OTC):c.699A>C (p.Ala233=)
|
|
|
NM_000531.6(OTC):c.6G>A (p.Leu2=)
|
|
|
NM_000531.6(OTC):c.6G>C (p.Leu2=)
|
rs1602008611
|
|
NM_000531.6(OTC):c.701A>G (p.Glu234Gly)
|
|
|
NM_000531.6(OTC):c.714dup (p.Glu239fs)
|
|
|
NM_000531.6(OTC):c.717+13C>T
|
|
|
NM_000531.6(OTC):c.717+15T>C
|
|
|
NM_000531.6(OTC):c.717+17T>G
|
|
|
NM_000531.6(OTC):c.717+1G>A
|
rs66500027
|
|
NM_000531.6(OTC):c.717+20A>C
|
|
|
NM_000531.6(OTC):c.717+20A>G
|
|
|
NM_000531.6(OTC):c.717+3A>G
|
rs72558432
|
|
NM_000531.6(OTC):c.717+8C>G
|
|
|
NM_000531.6(OTC):c.717G>A (p.Glu239=)
|
rs66851495
|
|
NM_000531.6(OTC):c.718-11A>C
|
|
|
NM_000531.6(OTC):c.718-17G>A
|
|
|
NM_000531.6(OTC):c.718-18C>A
|
|
|
NM_000531.6(OTC):c.718-18C>T
|
rs55903043
|
|
NM_000531.6(OTC):c.726C>T (p.Thr242=)
|
rs2147345076
|
|
NM_000531.6(OTC):c.729G>A (p.Lys243=)
|
rs2147345080
|
|
NM_000531.6(OTC):c.732G>C (p.Leu244=)
|
rs2147345085
|
|
NM_000531.6(OTC):c.736C>T (p.Leu246=)
|
|
|
NM_000531.6(OTC):c.749dup (p.Leu251fs)
|
rs2068529327
|
|
NM_000531.6(OTC):c.758C>A (p.Ala253Glu)
|
rs2147345110
|
|
NM_000531.6(OTC):c.762G>A (p.Ala254=)
|
rs1388386866
|
|
NM_000531.6(OTC):c.77+11G>A
|
|
|
NM_000531.6(OTC):c.77+1G>A
|
rs67077695
|
|
NM_000531.6(OTC):c.77+20T>C
|
|
|
NM_000531.6(OTC):c.77+2dup
|
rs1569270890
|
|
NM_000531.6(OTC):c.77+5G>A
|
rs72552302
|
|
NM_000531.6(OTC):c.77+5G>C
|
rs72552302
|
|
NM_000531.6(OTC):c.77+8A>G
|
rs2147315564
|
|
NM_000531.6(OTC):c.774T>A (p.Asn258Lys)
|
rs777282515
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
NM_000531.6(OTC):c.78-12C>A
|
|
|
NM_000531.6(OTC):c.78-13T>A
|
|
|
NM_000531.6(OTC):c.78-1G>T
|
rs281865554
|
|
NM_000531.6(OTC):c.78-5T>C
|
|
|
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs)
|
rs2068529696
|
|
NM_000531.6(OTC):c.789C>T (p.Asp263=)
|
rs2147345156
|
|
NM_000531.6(OTC):c.790A>G (p.Thr264Ala)
|
rs72558444
|
|
NM_000531.6(OTC):c.800G>T (p.Ser267Ile)
|
|
|
NM_000531.6(OTC):c.803T>A (p.Met268Lys)
|
|
|
NM_000531.6(OTC):c.803T>C (p.Met268Thr)
|
rs72558449
|
|
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
|
|
|
NM_000531.6(OTC):c.806G>A (p.Gly269Glu)
|
rs72558450
|
|
NM_000531.6(OTC):c.810A>G (p.Gln270=)
|
|
|
NM_000531.6(OTC):c.810AGA[1] (p.Glu273del)
|
rs2147345212
|
|
NM_000531.6(OTC):c.811G>C (p.Glu271Gln)
|
|
|
NM_000531.6(OTC):c.813A>G (p.Glu271=)
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.819G>A (p.Glu273=)
|
rs1602033324
|
|
NM_000531.6(OTC):c.81T>C (p.Cys27=)
|
rs993705802
|
|
NM_000531.6(OTC):c.822G>A (p.Lys274=)
|
rs2147345221
|
|
NM_000531.6(OTC):c.822del (p.Lys276fs)
|
rs2147345229
|
|
NM_000531.6(OTC):c.828_829delinsAA (p.Lys276_Arg277=)
|
rs2147345235
|
|
NM_000531.6(OTC):c.829C>A (p.Arg277=)
|
|
|
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.831G>T (p.Arg277=)
|
rs2147345248
|
|
NM_000531.6(OTC):c.840T>G (p.Ala280=)
|
rs2147345258
|
|
NM_000531.6(OTC):c.846A>G (p.Gln282=)
|
rs2068530338
|
|
NM_000531.6(OTC):c.848del (p.Gly283fs)
|
|
|
NM_000531.6(OTC):c.852C>T (p.Tyr284=)
|
rs2147345272
|
|
NM_000531.6(OTC):c.862A>G (p.Met288Val)
|
|
|
NM_000531.6(OTC):c.863T>G (p.Met288Arg)
|
|
|
NM_000531.6(OTC):c.867+1126A>C
|
|
|
NM_000531.6(OTC):c.867+1126A>G
|
rs1569281032
|
|
NM_000531.6(OTC):c.867+18T>C
|
|
|
NM_000531.6(OTC):c.867+19C>T
|
|
|
NM_000531.6(OTC):c.867+9T>C
|
|
|
NM_000531.6(OTC):c.867G>A (p.Lys289=)
|
rs72558456
|
|
NM_000531.6(OTC):c.868-10A>G
|
|
|
NM_000531.6(OTC):c.868-10A>T
|
rs2147346468
|
|
NM_000531.6(OTC):c.868-13C>A
|
|
|
NM_000531.6(OTC):c.868-13C>T
|
|
|
NM_000531.6(OTC):c.868-8C>T
|
|
|
NM_000531.6(OTC):c.870T>C (p.Thr290=)
|
rs794727959
|
|
NM_000531.6(OTC):c.885C>A (p.Ala295=)
|
rs974497183
|
|
NM_000531.6(OTC):c.889G>A (p.Asp297Asn)
|
rs2068544820
|
|
NM_000531.6(OTC):c.88C>T (p.Pro30Ser)
|
|
|
NM_000531.6(OTC):c.897A>C (p.Thr299=)
|
rs2147346527
|
|
NM_000531.6(OTC):c.897A>G (p.Thr299=)
|
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
NM_000531.6(OTC):c.904C>G (p.His302Asp)
|
rs72558463
|
|
NM_000531.6(OTC):c.907T>G (p.Cys303Gly)
|
rs67468335
|
|
NM_000531.6(OTC):c.912G>T (p.Leu304Phe)
|
rs72558465
|
|
NM_000531.6(OTC):c.914C>G (p.Pro305Arg)
|
rs67501347
|
|
NM_000531.6(OTC):c.915C>A (p.Pro305=)
|
|
|
NM_000531.6(OTC):c.915C>G (p.Pro305=)
|
|
|
NM_000531.6(OTC):c.916A>G (p.Arg306Gly)
|
rs2147346548
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NM_000531.6(OTC):c.919A>G (p.Lys307Glu)
|
rs796052013
|
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NM_000531.6(OTC):c.926AAG[1] (p.Glu310del)
|
rs2068545306
|
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NM_000531.6(OTC):c.929A>T (p.Glu310Val)
|
|
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NM_000531.6(OTC):c.92T>C (p.Leu31Pro)
|
|
|
NM_000531.6(OTC):c.933G>A (p.Val311=)
|
rs2147346566
|
|
NM_000531.6(OTC):c.93A>G (p.Leu31=)
|
|
|
NM_000531.6(OTC):c.943G>A (p.Val315Ile)
|
|
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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.945C>G (p.Val315=)
|
|
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NM_000531.6(OTC):c.951T>C (p.Tyr317=)
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|
|
NM_000531.6(OTC):c.953CTC[1] (p.Pro319del)
|
rs1555976710
|
|
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)
|
rs72558473
|
|
NM_000531.6(OTC):c.959G>A (p.Arg320Gln)
|
rs72558474
|
|
NM_000531.6(OTC):c.959G>C (p.Arg320Pro)
|
rs72558474
|
|
NM_000531.6(OTC):c.959G>T (p.Arg320Leu)
|
rs72558474
|
|
NM_000531.6(OTC):c.972C>T (p.Phe324=)
|
|
|
NM_000531.6(OTC):c.975A>C (p.Pro325=)
|
|
|
NM_000531.6(OTC):c.975A>G (p.Pro325=)
|
|
|
NM_000531.6(OTC):c.976G>A (p.Glu326Lys)
|
rs72558476
|
|
NM_000531.6(OTC):c.987C>T (p.Asn329=)
|
rs2068546163
|
|
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)
|
rs72558478
|
|
NM_000531.6(OTC):c.990A>G (p.Arg330=)
|
|
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NM_000531.6(OTC):c.999A>C (p.Thr333=)
|
|
|