NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
NM_000531.5(OTC):c.-142G>A
|
rs1555971000
|
|
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.158T>C (p.Ile53Thr)
|
rs66677059
|
|
NM_000531.6(OTC):c.299-2A>G
|
rs2147330536
|
|
NM_000531.6(OTC):c.350A>C (p.His117Pro)
|
|
|
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.419C>T (p.Ala140Val)
|
rs2147341270
|
|
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.505C>G (p.Pro169Ala)
|
rs72556277
|
|
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.577T>C (p.Trp193Arg)
|
rs67284661
|
|
NM_000531.6(OTC):c.588T>A (p.Asp196Glu)
|
rs2068501518
|
|
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.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.622G>T (p.Ala208Ser)
|
|
|
NM_000531.6(OTC):c.629A>C (p.Lys210Thr)
|
rs2068502349
|
|
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
|
|
|
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.717G>A (p.Glu239=)
|
rs66851495
|
|
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.78-1G>T
|
rs281865554
|
|
NM_000531.6(OTC):c.803T>A (p.Met268Lys)
|
|
|
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
|
|
|
NM_000531.6(OTC):c.810AGA[1] (p.Glu273del)
|
rs2147345212
|
|
NM_000531.6(OTC):c.867+1126A>G
|
rs1569281032
|
|
NM_000531.6(OTC):c.904C>G (p.His302Asp)
|
rs72558463
|
|
NM_000531.6(OTC):c.943G>A (p.Val315Ile)
|
|
|
NM_000531.6(OTC):c.959G>T (p.Arg320Leu)
|
rs72558474
|
|