| 基因名 | 突变 |
|---|---|
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66005888C>T,c.1891G>A,p.G631S |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66005857T>A,c.1922A>T,p.E641V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66005794C>A,c.1985G>T,p.R662M |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65767617G>A,c.2027C>T,p.T676M |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65622490C>T,c.2528G>A,p.G843E |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65622463A>G,c.2555T>C,p.L852P |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65596646T>G,c.2936A>C,p.E979A |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65596611G>A,c.2971C>T,p.L991F |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65336128C>T,c.3454G>A,p.G1152R |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65336093A>T,c.3489T>A,p.N1163K |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65327409A>G,c.3586T>C,p.C1196R |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65303100T>C,c.3787A>G,p.I1263V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65301787G>C,c.3973C>G,p.Q1325E |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65301679T>C,c.4081A>G,p.I1361V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65301504A>G,c.4256T>C,p.L1419S |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65301408A>G,c.4352T>C,p.I1451T |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65301397T>C,c.4363A>G,p.I1455V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65301217G>A,c.4543C>T,p.R1515W |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65301211T>C,c.4549A>G,p.S1517G |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300869G>A,c.4891C>T,p.P1631S |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300775T>A,c.4985A>T,p.D1662V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300716C>A,c.5044G>T,p.D1682Y |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300516T>G,c.5244A>C,p.L1748F |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300349A>G,c.5411T>C,p.I1804T |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300250C>G,c.5510G>C,p.W1837S |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300230G>C,c.5530C>G,p.P1844A |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65300143G>C,c.5617C>G,p.L1873V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65149185T>A,c.5705A>T,p.N1902I |