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.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
NM_000531.5(OTC):c.-106C>A
|
rs749748052
|
|
NM_000531.5(OTC):c.-115C>T
|
rs1555971008
|
|
NM_000531.5(OTC):c.-116C>T
|
rs1555971006
|
|
NM_000531.5(OTC):c.-139A>G
|
rs1555971001
|
|
NM_000531.5(OTC):c.-142G>A
|
rs1555971000
|
|
NM_000531.5(OTC):c.-157T>G
|
rs1555970997
|
|
NM_000531.6(OTC):c.1006-2A>G
|
|
|
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
|
|
|
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)
|
rs72558491
|
|
NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)
|
|
|
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)
|
rs2147349974
|
|
NM_000531.6(OTC):c.119G>T (p.Arg40Leu)
|
|
|
NM_000531.6(OTC):c.122A>G (p.Asp41Gly)
|
rs74518351
|
|
NM_000531.6(OTC):c.134T>G (p.Leu45Arg)
|
|
|
NM_000531.6(OTC):c.140_141insG (p.Asn47fs)
|
rs72554314
|
|
NM_000531.6(OTC):c.158T>C (p.Ile53Thr)
|
rs66677059
|
|
NM_000531.6(OTC):c.179C>A (p.Ser60Ter)
|
|
|
NM_000531.6(OTC):c.208A>T (p.Lys70Ter)
|
|
|
NM_000531.6(OTC):c.254T>C (p.Ile85Thr)
|
rs878853245
|
|
NM_000531.6(OTC):c.261_262del (p.Arg89fs)
|
|
|
NM_000531.6(OTC):c.262A>T (p.Lys88Ter)
|
|
|
NM_000531.6(OTC):c.298+2T>C
|
|
|
NM_000531.6(OTC):c.299-2A>G
|
rs2147330536
|
|
NM_000531.6(OTC):c.350A>C (p.His117Pro)
|
|
|
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.376G>A (p.Asp126Asn)
|
|
|
NM_000531.6(OTC):c.403G>C (p.Ala135Pro)
|
rs770910923
|
|
NM_000531.6(OTC):c.418G>C (p.Ala140Pro)
|
rs72556260
|
|
NM_000531.6(OTC):c.419C>T (p.Ala140Val)
|
rs2147341270
|
|
NM_000531.6(OTC):c.422G>C (p.Arg141Pro)
|
rs68026851
|
|
NM_000531.6(OTC):c.443T>C (p.Leu148Ser)
|
rs67016166
|
|
NM_000531.6(OTC):c.477T>G (p.Ile159Met)
|
|
|
NM_000531.6(OTC):c.478A>T (p.Ile160Phe)
|
rs2147341364
|
|
NM_000531.6(OTC):c.480C>G (p.Ile160Met)
|
|
|
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.488T>A (p.Leu163Gln)
|
rs2068486155
|
|
NM_000531.6(OTC):c.491C>T (p.Ser164Leu)
|
rs72556274
|
|
NM_000531.6(OTC):c.502C>T (p.His168Tyr)
|
|
|
NM_000531.6(OTC):c.505C>G (p.Pro169Ala)
|
rs72556277
|
|
NM_000531.6(OTC):c.50_53del (p.Gly17fs)
|
|
|
NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)
|
|
|
NM_000531.6(OTC):c.535C>G (p.Leu179Val)
|
rs2068487136
|
|
NM_000531.6(OTC):c.539A>C (p.Gln180Pro)
|
rs2147341500
|
|
NM_000531.6(OTC):c.562G>A (p.Gly188Ser)
|
rs72556294
|
|
NM_000531.6(OTC):c.563G>C (p.Gly188Ala)
|
|
|
NM_000531.6(OTC):c.577T>C (p.Trp193Arg)
|
rs67284661
|
|
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.602T>C (p.Leu201Pro)
|
rs72558407
|
|
NM_000531.6(OTC):c.604C>G (p.His202Asp)
|
rs72558408
|
|
NM_000531.6(OTC):c.607T>C (p.Ser203Pro)
|
|
|
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.614T>A (p.Met205Lys)
|
rs2068501940
|
|
NM_000531.6(OTC):c.617T>A (p.Met206Lys)
|
rs72558412
|
|
NM_000531.6(OTC):c.618G>T (p.Met206Ile)
|
|
|
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)
|
rs72558415
|
|
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
|
|
|
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
|
|
|
NM_000531.6(OTC):c.629A>C (p.Lys210Thr)
|
rs2068502349
|
|
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
|
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
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.717G>A (p.Glu239=)
|
rs66851495
|
|
NM_000531.6(OTC):c.717G>C (p.Glu239Asp)
|
rs66851495
|
|
NM_000531.6(OTC):c.717G>T (p.Glu239Asp)
|
|
|
NM_000531.6(OTC):c.731T>C (p.Leu244Pro)
|
rs72558436
|
|
NM_000531.6(OTC):c.758C>A (p.Ala253Glu)
|
rs2147345110
|
|
NM_000531.6(OTC):c.77+2dup
|
rs1569270890
|
|
NM_000531.6(OTC):c.77+5G>C
|
rs72552302
|
|
NM_000531.6(OTC):c.77G>T (p.Arg26Leu)
|
rs68031618
|
|
NM_000531.6(OTC):c.78-1G>T
|
rs281865554
|
|
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.810AGA[1] (p.Glu273del)
|
rs2147345212
|
|
NM_000531.6(OTC):c.814G>T (p.Glu272Ter)
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.826A>T (p.Lys276Ter)
|
|
|
NM_000531.6(OTC):c.833_864delinsCC (p.Leu278_Met288delinsPro)
|
|
|
NM_000531.6(OTC):c.844del (p.Gln282fs)
|
rs2068530290
|
|
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
|
rs2068530385
|
|
NM_000531.6(OTC):c.867+1126A>G
|
rs1569281032
|
|
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.943G>A (p.Val315Ile)
|
|
|
NM_000531.6(OTC):c.943G>T (p.Val315Phe)
|
rs72558470
|
|
NM_000531.6(OTC):c.959G>T (p.Arg320Leu)
|
rs72558474
|
|
NM_000531.6(OTC):c.961T>C (p.Ser321Pro)
|
rs1569281354
|
|
NM_000531.6(OTC):c.970_979del (p.Phe324fs)
|
rs2147346607
|
|