NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
NM_000531.6(OTC):c.540+1G>A
|
rs72556288
|
0.00001
|
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.(?_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_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)
|
rs2068592611
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
NM_000531.6(OTC):c.1039C>T (p.Pro347Ser)
|
|
|
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.140A>T (p.Asn47Ile)
|
rs67939655
|
|
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.177dup (p.Ser60fs)
|
rs2068302240
|
|
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)
|
rs72554326
|
|
NM_000531.6(OTC):c.216+1G>A
|
rs66693137
|
|
NM_000531.6(OTC):c.231G>T (p.Leu77Phe)
|
rs72554329
|
|
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.298+1G>A
|
rs68058881
|
|
NM_000531.6(OTC):c.298+2T>G
|
rs1555972538
|
|
NM_000531.6(OTC):c.2T>C (p.Met1Thr)
|
rs72552295
|
|
NM_000531.6(OTC):c.303del (p.Phe101fs)
|
rs1400669703
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
NM_000531.6(OTC):c.387-2A>T
|
rs66556380
|
|
NM_000531.6(OTC):c.395C>A (p.Ser132Tyr)
|
rs72556254
|
|
NM_000531.6(OTC):c.3G>A (p.Met1Ile)
|
rs72552296
|
|
NM_000531.6(OTC):c.416T>C (p.Leu139Ser)
|
rs72556259
|
|
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.429T>A (p.Tyr143Ter)
|
rs145777402
|
|
NM_000531.6(OTC):c.451del (p.Leu151fs)
|
rs72556264
|
|
NM_000531.6(OTC):c.460G>T (p.Glu154Ter)
|
rs72556267
|
|
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)
|
rs72556271
|
|
NM_000531.6(OTC):c.484G>C (p.Gly162Arg)
|
rs66626662
|
|
NM_000531.6(OTC):c.503A>G (p.His168Arg)
|
rs66867430
|
|
NM_000531.6(OTC):c.505C>T (p.Pro169Ser)
|
rs72556277
|
|
NM_000531.6(OTC):c.533C>T (p.Thr178Met)
|
rs72556284
|
|
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)
|
rs2068487136
|
|
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.548A>G (p.Tyr183Cys)
|
rs72556293
|
|
NM_000531.6(OTC):c.568dup (p.Thr190fs)
|
rs2068501144
|
|
NM_000531.6(OTC):c.579G>T (p.Trp193Cys)
|
rs2147342649
|
|
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.593A>G (p.Asn198Ser)
|
rs72558403
|
|
NM_000531.6(OTC):c.609del (p.Ile204fs)
|
|
|
NM_000531.6(OTC):c.614T>C (p.Met205Thr)
|
rs2068501940
|
|
NM_000531.6(OTC):c.617T>G (p.Met206Arg)
|
rs72558412
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
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.652G>C (p.Ala218Pro)
|
rs2068502738
|
|
NM_000531.6(OTC):c.653_663del (p.Ala218fs)
|
rs2147342791
|
|
NM_000531.6(OTC):c.663+1G>T
|
rs68170503
|
|
NM_000531.6(OTC):c.663+2T>C
|
rs72558427
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
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.714dup (p.Glu239fs)
|
|
|
NM_000531.6(OTC):c.717+1G>A
|
rs66500027
|
|
NM_000531.6(OTC):c.717+3A>G
|
rs72558432
|
|
NM_000531.6(OTC):c.749dup (p.Leu251fs)
|
rs2068529327
|
|
NM_000531.6(OTC):c.77+1G>A
|
rs67077695
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs)
|
rs2068529696
|
|
NM_000531.6(OTC):c.790A>G (p.Thr264Ala)
|
rs72558444
|
|
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.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.822del (p.Lys276fs)
|
rs2147345229
|
|
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.848del (p.Gly283fs)
|
|
|
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.912G>T (p.Leu304Phe)
|
rs72558465
|
|
NM_000531.6(OTC):c.914C>G (p.Pro305Arg)
|
rs67501347
|
|
NM_000531.6(OTC):c.926AAG[1] (p.Glu310del)
|
rs2068545306
|
|
NM_000531.6(OTC):c.929A>T (p.Glu310Val)
|
|
|
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.958C>T (p.Arg320Ter)
|
rs72558473
|
|
NM_000531.6(OTC):c.959G>C (p.Arg320Pro)
|
rs72558474
|
|
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)
|
rs72558478
|
|