| 基因名 | 突变 |
|---|---|
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342796G>A,c.472G>A,p.A158T |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342749A>G,c.425A>G,p.Y142C |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342692C>T,c.368C>T,p.T123M |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342689G>A,c.365G>A,p.G122D |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342686C>T,c.362C>T,p.A121V |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342659C>T,c.335C>T,p.A112V |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48339595G>A,c.196G>A,p.V66I |
| CRTC3(NM_022769,CREB regulated transcription coactivator 3,619aa) | g.15:91184414C>T,c.1634C>T,p.P545L |
| CRTC3(NM_022769,CREB regulated transcription coactivator 3,619aa) | g.15:91182000G>C,c.1501G>C,p.G501R |
| CRTC3(NM_022769,CREB regulated transcription coactivator 3,619aa) | g.15:91181966del,c.1468-1del,p.490Acceptordel |
| CRTC3(NM_022769,CREB regulated transcription coactivator 3,619aa) | g.15:91145559G>A,c.355G>A,p.D119N |
| CRTC3(NM_022769,CREB regulated transcription coactivator 3,619aa) | g.15:91083353G>A,c.215G>A,p.S72N |
| CRTC3(NM_022769,CREB regulated transcription coactivator 3,619aa) | g.15:91083322T>C,c.184T>C,p.S62P |
| CRTC2(NM_181715,CREB regulated transcription coactivator 2,693aa) | g.1:153930936G>A,c.38C>T,p.T13M |
| CRTC2(NM_181715,CREB regulated transcription coactivator 2,693aa) | g.1:153926078T>C,c.439A>G,p.M147V |
| CRTC2(NM_181715,CREB regulated transcription coactivator 2,693aa) | g.1:153926065T>C,c.452A>G,p.N151S |
| CRTC2(NM_181715,CREB regulated transcription coactivator 2,693aa) | g.1:153924005G>A,c.1135C>T,p.R379C |
| CRTC2(NM_181715,CREB regulated transcription coactivator 2,693aa) | g.1:153923872G>C,c.1268C>G,p.A423G |
| CRTC2(NM_181715,CREB regulated transcription coactivator 2,693aa) | g.1:153921765G>T,c.1500C>A,p.H500Q |
| CRTC2(NM_181715,CREB regulated transcription coactivator 2,693aa) | g.1:153921054C>T,c.1741G>A,p.G581R |
| CRTC1(NM_001098482,CREB regulated transcription coactivator 1,650aa) | g.19:18876309A>G,c.1030A>G,p.T344A |
| CRTC1(NM_001098482,CREB regulated transcription coactivator 1,650aa) | g.19:18876292G>A,c.1013G>A,p.R338H |
| CRTC1(NM_001098482,CREB regulated transcription coactivator 1,650aa) | g.19:18876258G>A,c.979G>A,p.V327I |
| CRTC1(NM_001098482,CREB regulated transcription coactivator 1,650aa) | g.19:18870997C>T,c.893C>T,p.A298V |
| CRTC1(NM_001098482,CREB regulated transcription coactivator 1,650aa) | g.19:18870996G>A,c.892G>A,p.A298T |
| CRTC1(NM_001098482,CREB regulated transcription coactivator 1,650aa) | g.19:18870372G>C,c.684G>C,p.R228S |
| CRTC1(NM_001098482,CREB regulated transcription coactivator 1,650aa) | g.19:18860625A>G,c.526A>G,p.M176V |
| CRTAP(NM_006371,cartilage associated protein,401aa) | g.3:33174100C>G,c.976C>G,p.Q326E |