| 基因名 | 突变 |
|---|---|
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48606082G>A,c.2563G>A,p.V855M |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48604679G>C,c.2330G>C,p.R777T |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48603503C>T,c.2173C>T,p.R725W |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48603434C>T,c.2104C>T,p.R702W |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48601096C>T,c.1715C>T,p.A572V |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48601056A>C,c.1675A>C,p.T559P |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48598785G>A,c.1270G>A,p.A424T |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48598741A>G,c.1226A>G,p.Y409C |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48598725G>A,c.1210G>A,p.V404I |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48598501G>A,c.1076G>A,p.R359H |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48596391C>T,c.838C>T,p.R280W |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48596059G>A,c.755G>A,p.R252Q |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48595988G>C,c.684G>C,p.E228D |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48595034T>C,c.572T>C,p.I191T |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48594980G>A,c.518G>A,p.S173N |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48594973G>A,c.511G>A,p.D171N |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48594775C>T,c.455C>T,p.A152V |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48594717C>T,c.397C>T,p.R133C |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48594691G>A,c.371G>A,p.R124H |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48593940G>A,c.215G>A,p.R72Q |
| MYCBPAP(NM_032133,MYCBP associated protein,984aa) | g.17:48586018A>G,c.112A>G,p.M38V |
| MYCBP2(NM_015057,MYC binding protein 2, E3 ubiquitin protein ligase,4678aa) | g.13:77825359T>C,c.2308A>G,p.T770A |
| MYCBP2(NM_015057,MYC binding protein 2, E3 ubiquitin protein ligase,4678aa) | g.13:77825329C>A,c.2338G>T,p.A780S |
| MYCBP2(NM_015057,MYC binding protein 2, E3 ubiquitin protein ligase,4678aa) | g.13:77765830T>C,c.4054A>G,p.I1352V |
| MYCBP2(NM_015057,MYC binding protein 2, E3 ubiquitin protein ligase,4678aa) | g.13:77760071C>T,c.4379G>A,p.R1460H |
| MYCBP2(NM_015057,MYC binding protein 2, E3 ubiquitin protein ligase,4678aa) | g.13:77759465T>C,c.4492A>G,p.I1498V |
| MYCBP2(NM_015057,MYC binding protein 2, E3 ubiquitin protein ligase,4678aa) | g.13:77754330C>T,c.5065G>A,p.V1689I |
| MYCBP2(NM_015057,MYC binding protein 2, E3 ubiquitin protein ligase,4678aa) | g.13:77754281G>A,c.5114C>T,p.A1705V |