| 基因名 | 突变 |
|---|---|
| PDE6H(NM_006205,phosphodiesterase 6H, cGMP-specific, cone, gamma,83aa) | g.12:15134372C>A,c.214C>A,p.L72M |
| PDE6D(NM_002601,phosphodiesterase 6D, cGMP-specific, rod, delta,150aa) | g.2:232597706C>T,c.409G>A,p.D137N |
| PDE6C(NM_006204,phosphodiesterase 6C, cGMP-specific, cone, alpha prime,858aa) | g.10:95422918A>G,c.2501A>G,p.E834G |
| PDE6C(NM_006204,phosphodiesterase 6C, cGMP-specific, cone, alpha prime,858aa) | g.10:95418717A>C,c.2096A>C,p.E699A |
| PDE6C(NM_006204,phosphodiesterase 6C, cGMP-specific, cone, alpha prime,858aa) | g.10:95400694G>T,c.1755G>T,p.K585N |
| PDE6C(NM_006204,phosphodiesterase 6C, cGMP-specific, cone, alpha prime,858aa) | g.10:95381773T>A,c.808T>A,p.S270T |
| PDE6C(NM_006204,phosphodiesterase 6C, cGMP-specific, cone, alpha prime,858aa) | g.10:95372953T>G,c.471T>G,p.D157E |
| PDE6C(NM_006204,phosphodiesterase 6C, cGMP-specific, cone, alpha prime,858aa) | g.10:95372502T>C,c.20T>C,p.V7A |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:660344G>C,c.2293G>C,p.A765P |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:657979T>A,c.2098T>A,p.S700T |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:654400G>A,c.1612G>A,p.E538K |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:652753C>T,c.1414C>T,p.R472C |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:650774G>A,c.1219G>A,p.G407R |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:648653G>A,c.968G>A,p.G323D |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:648652G>A,c.967G>A,p.G323S |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:648643G>A,c.958G>A,p.V320I |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:647942G>A,c.926G>A,p.R309Q |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:629747C>T,c.700C>T,p.R234C |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:629741G>A,c.694G>A,p.E232K |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:629702T>C,c.655T>C,p.Y219H |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:628493G>A,c.496G>A,p.E166K |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619856G>C,c.441G>C,p.K147N |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619767G>A,c.352G>A,p.V118I |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619636G>A,c.221G>A,p.R74H |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619635C>T,c.220C>T,p.R74C |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619560G>T,c.145G>T,p.D49Y |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619547C>G,c.132C>G,p.C44W |
| PDE6B(NM_000283,phosphodiesterase 6B, cGMP-specific, rod, beta,854aa) | g.4:619530G>A,c.115G>A,p.G39R |