| 基因名 | 突变 |
|---|---|
| SREK1(NM_139168,splicing regulatory glutamine/lysine-rich protein 1,508aa) | g.5:65466751C>T,c.1112C>T,p.S371L |
| SREK1(NM_139168,splicing regulatory glutamine/lysine-rich protein 1,508aa) | g.5:65466600C>T,c.961C>T,p.R321W |
| SREK1(NM_139168,splicing regulatory glutamine/lysine-rich protein 1,508aa) | g.5:65465971G>A,c.746G>A,p.R249Q |
| SREK1IP1(NM_173829,SREK1-interacting protein 1,155aa) | g.5:64020316T>G,c.363A>C,p.K121N |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42300939C>A,c.3166C>A,p.H1056N |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42294751G>C,c.2704G>C,p.V902L |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42293140G>C,c.2580G>C,p.R860S |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42293112T>G,c.2552T>G,p.V851G |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42280875G>A,c.2068G>A,p.D690N |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42280866G>A,c.2059G>A,p.A687T |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42276895G>A,c.1937G>A,p.R646Q |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42276853G>A,c.1895G>A,p.R632H |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42276825G>A,c.1867G>A,p.V623M |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42276742G>C,c.1784G>C,p.G595A |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42273963G>A,c.1597G>A,p.D533N |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42271363G>A,c.1112G>A,p.R371K |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42267025G>T,c.853G>T,p.A285S |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42264796G>A,c.720G>A,p.P240P |
| SREBF2(NM_004599,sterol regulatory element binding transcription factor 2,1141aa) | g.22:42264732C>T,c.656C>T,p.T219M |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17723603C>G,c.414G>C,p.K138N |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17723595G>A,c.422C>T,p.P141L |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17723019G>C,c.634C>G,p.Q212E |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17722973G>A,c.680C>T,p.P227L |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17722536C>T,c.949G>A,p.G317S |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17722451G>A,c.1034C>T,p.P345L |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17721165C>T,c.1339G>A,p.V447M |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17720701G>A,c.1565C>T,p.T522M |
| SREBF1(NM_001005291,sterol regulatory element binding transcription factor 1,1177aa) | g.17:17720391A>G,c.1756T>C,p.L586L |