| 基因名 | 突变 |
|---|---|
| PELO(NM_015946,pelota homolog (Drosophila),385aa) | g.5:52096796G>T,c.568G>T,p.V190F |
| PELO(NM_015946,pelota homolog (Drosophila),385aa) | g.5:52096613T>C,c.385T>C,p.C129R |
| PELI3(NM_145065,pellino E3 ubiquitin protein ligase family member 3,469aa) | g.11:66243148C>T,c.920C>T,p.A307V |
| PELI3(NM_145065,pellino E3 ubiquitin protein ligase family member 3,469aa) | g.11:66235714G>C,c.115G>C,p.E39Q |
| PELI2(NM_021255,pellino E3 ubiquitin protein ligase family member 2,420aa) | g.14:56763840G>A,c.1219G>A,p.E407K |
| PELI2(NM_021255,pellino E3 ubiquitin protein ligase family member 2,420aa) | g.14:56757104G>A,c.626G>A,p.R209H |
| PELI2(NM_021255,pellino E3 ubiquitin protein ligase family member 2,420aa) | g.14:56585441G>C,c.63G>C,p.E21D |
| PELI1(NM_020651,pellino E3 ubiquitin protein ligase 1,418aa) | g.2:64323365T>C,c.584A>G,p.N195S |
| PELI1(NM_020651,pellino E3 ubiquitin protein ligase 1,418aa) | g.2:64322300C>G,c.793G>C,p.V265L |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57336001G>A,c.23C>T,p.S8F |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57335875C>T,c.149G>A,p.R50Q |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57335822G>A,c.202C>T,p.R68X |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57335735T>C,c.289A>G,p.I97V |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57329117G>C,c.859C>G,p.R287G |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57328804C>G,c.1006G>C,p.D336H |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57328774C>T,c.1036G>A,p.D346N |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57328528C>T,c.1282G>A,p.V428M |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57328213C>A,c.1597G>T,p.V533L |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57328023T>C,c.1787A>G,p.H596R |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57328006G>A,c.1804C>T,p.R602C |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57327997C>T,c.1813G>A,p.G605R |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57327924C>T,c.1886G>A,p.C629Y |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57327420C>A,c.2390G>T,p.S797I |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57327295C>G,c.2515G>C,p.V839L |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57327078T>A,c.2732A>T,p.E911V |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57326970T>C,c.2840A>G,p.N947S |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57326850T>C,c.2960A>G,p.H987R |
| PEG3(NM_006210,paternally expressed 3,1588aa) | g.19:57326839G>C,c.2971C>G,p.H991D |