| 基因名 | 突变 |
|---|---|
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108697090T>C,c.1033-2A>G,p.345Acceptor |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108696981C>A,c.1140G>T,p.Q380H |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108696827G>A,c.1294C>T,p.R432C |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108696821C>T,c.1300G>A,p.G434R |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108684701C>T,c.1580G>A,p.R527H |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108673607T>G,c.1720A>C,p.K574Q |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108652306C>T,c.1883G>A,p.R628Q |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108647653C>G,c.2029G>C,p.V677L |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108641924A>T,c.2129T>A,p.L710Q |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108641915G>A,c.2138C>T,p.T713M |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108638614C>T,c.2380G>A,p.E794K |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108631890T>C,c.2786-2A>G,p.929Acceptor |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7918177G>T,c.2577G>T,p.P859P |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7918012C>T,c.2506C>T,p.R836W |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7917279T>A,c.2345T>A,p.L782H |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7916486G>A,c.2179G>A,p.G727S |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7915912C>T,c.2101C>T,p.P701S |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7915904C>G,c.2093C>G,p.P698R |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7915889C>A,c.2078C>A,p.A693E |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7912879C>T,c.1724C>T,p.P575L |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7912875C>T,c.1720C>T,p.R574C |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7911306G>A,c.1624G>A,p.G542S |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7911300C>T,c.1618C>T,p.R540C |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7909969G>A,c.1315G>A,p.G439R |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7909911G>A,c.1257G>A,p.M419I |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7909747C>T,c.1093C>T,p.R365W |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7906529C>T,c.164C>T,p.T55M |
| GUCY2D(NM_000180,guanylate cyclase 2D, membrane (retina-specific),1103aa) | g.17:7906519G>T,c.154G>T,p.A52S |