| 基因名 | 突变 |
|---|---|
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619524G>A,c.109G>A,p.E37K |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619515G>A,c.100G>A,p.A34T |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149324134C>T,c.103G>A,p.D35N |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149323963C>T,c.274G>A,p.D92N |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149323955C>T,c.282G>A,p.M94I |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149323938C>T,c.299G>A,p.R100Q |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149323921C>T,c.316G>A,p.A106T |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149323870C>A,c.367G>T,p.D123Y |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149313563T>C,c.647A>G,p.N216S |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149301253G>A,c.878C>T,p.P293L |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149279030C>T,c.1171G>A,p.V391M |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149278987T>C,c.1214A>G,p.N405S |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149278946G>A,c.1255C>T,p.L419F |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149277984A>G,c.1349T>C,p.F450S |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149276063T>G,c.1476A>C,p.Q492H |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149275993G>C,c.1546C>G,p.L516V |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149274789C>T,c.1685G>A,p.R562Q |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149265922G>A,c.1744C>T,p.R582C |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149265921C>T,c.1745G>A,p.R582H |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149264133T>C,c.1936A>G,p.I646V |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149264117T>C,c.1952A>G,p.N651S |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149264115G>A,c.1954C>T,p.R652C |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149264106G>A,c.1963C>T,p.H655Y |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149263091G>A,c.2036C>T,p.T679M |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149263008G>A,c.2119C>T,p.R707W |
| PDE6A(NM_000440,phosphodiesterase 6A, cGMP-specific, rod, alpha,860aa) | g.5:149247313C>T,c.2249G>A,p.R750H |
| PDE5A(NM_001083,phosphodiesterase 5A, cGMP-specific,875aa) | g.4:120528327G>A,c.278C>T,p.A93V |
| PDE5A(NM_001083,phosphodiesterase 5A, cGMP-specific,875aa) | g.4:120528064A>C,c.541T>G,p.S181A |