| 基因名 | 突变 |
|---|---|
| PAIP1(NM_006451,poly(A) binding protein interacting protein 1,479aa) | g.5:43543191T>A,c.649A>T,p.M217L |
| PAICS(NM_006452,phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase,425aa) | g.4:57325634G>A,c.1208G>A,p.R403Q |
| PAICS(NM_006452,phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase,425aa) | g.4:57319879C>T,c.1063C>T,p.P355S |
| PAICS(NM_006452,phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase,425aa) | g.4:57314905A>C,c.603A>C,p.K201N |
| PAICS(NM_006452,phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase,425aa) | g.4:57314764_57314778del,c.573+1del,p.191Donordel |
| PAICS(NM_006452,phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase,425aa) | g.4:57314612C>G,c.422C>G,p.S141C |
| PAICS(NM_006452,phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase,425aa) | g.4:57314594A>G,c.404A>G,p.N135S |
| PAICS(NM_006452,phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase,425aa) | g.4:57302426A>G,c.-51-2A>G,p.5'UTRAcceptor |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103306672G>T,c.65C>A,p.T22K |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103306579C>T,c.158G>A,p.R53H |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103288534G>A,c.331C>T,p.R111X |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103260419C>T,c.464G>A,p.R155H |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103260410C>T,c.473G>A,p.R158Q |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103249110A>T,c.510T>A,p.H170Q |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103249104C>A,c.516G>T,p.Q172H |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103249009T>C,c.611A>G,p.Y204C |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103249008A>G,c.612T>C,p.Y204Y |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103248932C>T,c.688G>A,p.V230I |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246719C>T,c.716G>A,p.G239D |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246707C>T,c.728G>A,p.R243Q |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246700C>T,c.735G>A,p.V245V |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246654G>A,c.781C>T,p.R261X |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246603_103246613del,c.822_832del,p.274fs |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246598G>A,c.837C>T,p.P279P |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246598del,c.837del,p.279fs |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103246597C>T,c.838G>A,p.E280K |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103245488G>A,c.889C>T,p.R297C |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103240710A>G,c.932T>C,p.L311P |