| 基因名 | 突变 |
|---|---|
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103240702G>T,c.940C>A,p.P314T |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103238169C>T,c.1010G>A,p.G337E |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103238155del,c.1024del,p.342fs |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103237426T>A,c.1197A>T,p.V399V |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103234285G>A,c.1208C>T,p.A403V |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103234270C>T,c.1223G>A,p.R408Q |
| PAH(NM_000277,phenylalanine hydroxylase,452aa) | g.12:103234177C>T,c.1315+1G>A,p.439Donor |
| PAGR1(NM_024516,PAXIP1 associated glutamate-rich protein 1,254aa) | g.16:29827883A>T,c.37A>T,p.S13C |
| PAGE5(NM_130467,P antigen family, member 5 (prostate associated),130aa) | g.X:55247817T>C,c.62T>C,p.M21T |
| PAGE2(NM_207339,P antigen family, member 2 (prostate associated),111aa) | g.X:55116478T>A,c.25T>A,p.S9T |
| PAGE2(NM_207339,P antigen family, member 2 (prostate associated),111aa) | g.X:55116466C>G,c.13C>G,p.L5V |
| PAGE2B(NM_001015038,P antigen family, member 2B,111aa) | g.X:55103931T>C,c.293T>C,p.F98S |
| PAGE1(NM_003785,P antigen family, member 1 (prostate associated),146aa) | g.X:49459346G>A,c.28C>T,p.R10W |
| PAGE1(NM_003785,P antigen family, member 1 (prostate associated),146aa) | g.X:49458707G>C,c.161C>G,p.A54G |
| PAGE1(NM_003785,P antigen family, member 1 (prostate associated),146aa) | g.X:49454026T>C,c.413A>G,p.E138G |
| PAG1(NM_018440,phosphoprotein associated with glycosphingolipid microdomains 1,432aa) | g.8:81905453C>T,c.10G>A,p.A4T |
| PAG1(NM_018440,phosphoprotein associated with glycosphingolipid microdomains 1,432aa) | g.8:81899679C>T,c.200G>A,p.S67N |
| PAG1(NM_018440,phosphoprotein associated with glycosphingolipid microdomains 1,432aa) | g.8:81897177C>T,c.710G>A,p.R237H |
| PAG1(NM_018440,phosphoprotein associated with glycosphingolipid microdomains 1,432aa) | g.8:81897051G>C,c.836C>G,p.A279G |
| PAG1(NM_018440,phosphoprotein associated with glycosphingolipid microdomains 1,432aa) | g.8:81888847C>T,c.1231G>A,p.V411I |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26315944G>A,c.239C>T,p.A80V |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26314810G>A,c.253C>T,p.R85C |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26314758G>C,c.305C>G,p.P102R |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26310438T>C,c.551A>G,p.Q184R |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26308964T>C,c.557A>G,p.H186R |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26308958C>T,c.563G>A,p.R188Q |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26308941G>A,c.580C>T,p.R194W |
| PAFAH2(NM_000437,platelet-activating factor acetylhydrolase 2, 40kDa,392aa) | g.1:26303228G>A,c.703C>T,p.H235Y |