|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
|
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.298+5G>C
|
rs72554348
|
0.00069
|
|
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)
|
rs137899554
|
0.00028
|
|
NM_000531.6(OTC):c.582C>T (p.Ile194=)
|
rs200564773
|
0.00018
|
|
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.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.621C>T (p.Ser207=)
|
rs72558415
|
0.00005
|
|
NM_000531.6(OTC):c.299-7dup
|
rs374145788
|
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.808C>G (p.Gln270Glu)
|
rs72558451
|
0.00003
|
|
NM_000531.6(OTC):c.863T>G (p.Met288Arg)
|
rs777210088
|
0.00003
|
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00002
|
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
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.89C>A (p.Pro30Gln)
|
rs753712951
|
0.00002
|
|
NC_000023.11:g.38352591C>A
|
rs749748052
|
0.00001
|
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
|
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)
|
rs1051365488
|
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.286T>C (p.Ser96Pro)
|
rs184053962
|
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.448A>T (p.Thr150Ser)
|
rs758684873
|
0.00001
|
|
NM_000531.6(OTC):c.556C>T (p.Leu186=)
|
rs1337833268
|
0.00001
|
|
NM_000531.6(OTC):c.656C>A (p.Thr219Asn)
|
rs756096405
|
0.00001
|
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
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.804G>C (p.Met268Ile)
|
rs1357402422
|
0.00001
|
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
|
NC_000023.11:g.38352581C>T
|
rs1555971006
|
|
|
NC_000023.11:g.38352582C>T
|
rs1555971008
|
|
|
NM_000531.6(OTC):c.1009G>T (p.Val337Phe)
|
rs72558487
|
|
|
NM_000531.6(OTC):c.1015G>A (p.Val339Met)
|
rs72558488
|
|
|
NM_000531.6(OTC):c.1015G>C (p.Val339Leu)
|
rs72558488
|
|
|
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
|
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)
|
rs2068592611
|
|
|
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
|
rs2519986961
|
|
|
NM_000531.6(OTC):c.1028C>A (p.Thr343Lys)
|
rs72558491
|
|
|
NM_000531.6(OTC):c.1028C>T (p.Thr343Ile)
|
rs72558491
|
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
|
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)
|
rs2147349974
|
|
|
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.149G>C (p.Gly50Ala)
|
rs201802621
|
|
|
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.167T>C (p.Met56Thr)
|
rs72554320
|
|
|
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.236G>A (p.Gly79Glu)
|
rs72554331
|
|
|
NM_000531.6(OTC):c.299-34dup
|
rs398122026
|
|
|
NM_000531.6(OTC):c.299-8del
|
rs764551624
|
|
|
NM_000531.6(OTC):c.387T>C (p.Arg129=)
|
rs1052206430
|
|
|
NM_000531.6(OTC):c.416T>C (p.Leu139Ser)
|
rs72556259
|
|
|
NM_000531.6(OTC):c.449C>A (p.Thr150Asn)
|
rs766735977
|
|
|
NM_000531.6(OTC):c.473C>T (p.Pro158Leu)
|
rs2068485732
|
|
|
NM_000531.6(OTC):c.485G>C (p.Gly162Ala)
|
rs72556272
|
|
|
NM_000531.6(OTC):c.506C>T (p.Pro169Leu)
|
rs72556278
|
|
|
NM_000531.6(OTC):c.541-9G>T
|
|
|
|
NM_000531.6(OTC):c.572T>G (p.Leu191Arg)
|
rs72556297
|
|
|
NM_000531.6(OTC):c.577T>C (p.Trp193Arg)
|
rs67284661
|
|
|
NM_000531.6(OTC):c.582C>A (p.Ile194=)
|
rs200564773
|
|
|
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.608C>T (p.Ser203Phe)
|
rs72558410
|
|
|
NM_000531.6(OTC):c.614T>C (p.Met205Thr)
|
rs2068501940
|
|
|
NM_000531.6(OTC):c.617T>C (p.Met206Thr)
|
rs72558412
|
|
|
NM_000531.6(OTC):c.617T>G (p.Met206Arg)
|
rs72558412
|
|
|
NM_000531.6(OTC):c.618G>A (p.Met206Ile)
|
rs72558413
|
|
|
NM_000531.6(OTC):c.618G>T (p.Met206Ile)
|
rs72558413
|
|
|
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)
|
rs72558415
|
|
|
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
|
rs72558416
|
|
|
NM_000531.6(OTC):c.626C>T (p.Ala209Val)
|
rs72558417
|
|
|
NM_000531.6(OTC):c.659C>T (p.Pro220Leu)
|
rs72558426
|
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
rs281865552
|
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
|
NM_000531.6(OTC):c.717G>C (p.Glu239Asp)
|
rs66851495
|
|
|
NM_000531.6(OTC):c.736C>G (p.Leu246Val)
|
rs1168053730
|
|
|
NM_000531.6(OTC):c.77+5G>C
|
rs72552302
|
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
|
NM_000531.6(OTC):c.785C>T (p.Thr262Ile)
|
rs67333670
|
|
|
NM_000531.6(OTC):c.788A>G (p.Asp263Gly)
|
rs72558443
|
|
|
NM_000531.6(OTC):c.78G>A (p.Arg26=)
|
rs141273695
|
|
|
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.803T>C (p.Met268Thr)
|
rs72558449
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
|
NM_000531.6(OTC):c.841T>G (p.Phe281Val)
|
|
|
|
NM_000531.6(OTC):c.867+1G>T
|
rs66512766
|
|
|
NM_000531.6(OTC):c.867G>A (p.Lys289=)
|
rs72558456
|
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
|
NM_000531.6(OTC):c.907T>G (p.Cys303Gly)
|
rs67468335
|
|
|
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)
|
rs796052013
|
|
|
NM_000531.6(OTC):c.931G>A (p.Val311Met)
|
rs72558468
|
|
|
NM_000531.6(OTC):c.953C>T (p.Ser318Phe)
|
rs72558472
|
|
|
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)
|
rs72558478
|
|