| 基因名 | 突变 |
|---|---|
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:65016935A>T,c.6119T>A,p.V2040D |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64940499C>T,c.6410G>A,p.R2137H |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64791868T>C,c.6452A>G,p.N2151S |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64791758T>C,c.6562A>G,p.I2188V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64776324G>A,c.6632C>T,p.S2211L |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64694354C>T,c.6977G>A,p.R2326Q |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64694325C>T,c.7006G>A,p.V2336I |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64694297C>T,c.7034G>A,p.R2345H |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64498112C>T,c.7609G>A,p.A2537T |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64498055T>A,c.7666A>T,p.S2556C |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64488001T>C,c.7796A>G,p.H2599R |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64472476G>A,c.7949C>T,p.S2650F |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64436538C>A,c.8107G>T,p.E2703X |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64431505C>T,c.8422G>A,p.A2808T |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64431067A>G,c.8860T>C,p.F2954L |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64430718A>G,c.9209T>C,p.I3070T |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:64430513A>C,c.9414T>G,p.D3138E |
| EYA4(NM_172105,eyes absent homolog 4 (Drosophila),639aa) | g.6:133846228G>A,c.1814G>A,p.R605Q |
| EYA4(NM_172105,eyes absent homolog 4 (Drosophila),639aa) | g.6:133789728G>A,c.829G>A,p.G277S |
| EYA4(NM_172105,eyes absent homolog 4 (Drosophila),639aa) | g.6:133769253A>C,c.213A>C,p.E71D |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45797814G>A,c.1006G>A,p.V336I |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45771708C>T,c.899C>T,p.T300M |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45717955G>A,c.739G>A,p.G247R |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45717943C>T,c.727C>T,p.R243W |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45700871G>A,c.463G>A,p.G155S |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45633658T>C,c.233T>C,p.I78T |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45633646A>G,c.221A>G,p.Y74C |
| EYA2(NM_005244,eyes absent homolog 2 (Drosophila),538aa) | g.20:45633640C>T,c.215C>T,p.T72M |