| 基因名 | 突变 |
|---|---|
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57326752C>T,c.3058G>A,p.A1020T |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57326721C>T,c.3089G>A,p.R1030Q |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57326680C>T,c.3130G>A,p.E1044K |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57326500C>T,c.3310G>A,p.D1104N |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57325545G>C,c.4265C>G,p.A1422G |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57325480C>T,c.4330G>A,p.E1444K |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57325443G>A,c.4367C>T,p.A1456V |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57325083C>T,c.4727G>A,p.R1576H |
| PEF1(NM_012392,penta-EF-hand domain containing 1,284aa) | g.1:32101083G>A,c.65C>T,p.P22L |
| PEF1(NM_012392,penta-EF-hand domain containing 1,284aa) | g.1:32098910C>T,c.331G>A,p.A111T |
| PEF1(NM_012392,penta-EF-hand domain containing 1,284aa) | g.1:32098801T>C,c.440A>G,p.N147S |
| PECR(NM_018441,peroxisomal trans-2-enoyl-CoA reductase,303aa) | g.2:216930083C>G,c.376G>C,p.A126P |
| PECR(NM_018441,peroxisomal trans-2-enoyl-CoA reductase,303aa) | g.2:216923679C>T,c.445G>A,p.E149K |
| PECR(NM_018441,peroxisomal trans-2-enoyl-CoA reductase,303aa) | g.2:216914080_216914081insG,c.619_620insC,p.207fs |
| PECR(NM_018441,peroxisomal trans-2-enoyl-CoA reductase,303aa) | g.2:216908630G>A,c.823C>T,p.P275S |
| PECR(NM_018441,peroxisomal trans-2-enoyl-CoA reductase,303aa) | g.2:216904019A>T,c.891T>A,p.F297L |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22785182G>A,c.46C>T,p.L16F |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22785112T>C,c.116A>G,p.D39G |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22777789T>C,c.166A>G,p.I56V |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22675244G>C,c.263C>G,p.A88G |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22675196T>C,c.311A>G,p.E104G |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22584727C>T,c.364G>A,p.D122N |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22584718T>C,c.373A>G,p.K125E |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22582461C>G,c.412G>C,p.A138P |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22570935T>C,c.632A>G,p.E211G |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22570908del,c.659del,p.220fs |
| PEBP4(NM_144962,phosphatidylethanolamine-binding protein 4,227aa) | g.8:22570905T>G,c.662A>C,p.Q221P |
| PEBP1(NM_002567,phosphatidylethanolamine binding protein 1,187aa) | g.12:118582477C>T,c.433C>T,p.H145Y |