| 基因名 | 突变 |
|---|---|
| PRR11(NM_018304,proline rich 11,360aa) | g.17:57270961G>C,c.511G>C,p.A171P |
| PRR11(NM_018304,proline rich 11,360aa) | g.17:57262849C>T,c.328C>T,p.R110X |
| PRR11(NM_018304,proline rich 11,360aa) | g.17:57247133G>A,c.20G>A,p.R7Q |
| PRPSAP2(NM_002767,phosphoribosyl pyrophosphate synthetase-associated protein 2,369aa) | g.17:18832245G>A,c.926G>A,p.R309Q |
| PRPSAP1(NM_002766,phosphoribosyl pyrophosphate synthetase-associated protein 1,385aa) | g.17:74344663C>T,c.171-1G>A,p.57Acceptor |
| PRPSAP1(NM_002766,phosphoribosyl pyrophosphate synthetase-associated protein 1,385aa) | g.17:74307782C>T,c.1000-1G>A,p.334Acceptor |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18067404G>A,c.2C>T,p.T1M |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18067261G>C,c.145C>G,p.R49G |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18067243T>C,c.163A>G,p.I55V |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18066968_18066972del,c.434_438del,p.145fs |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18066819C>T,c.587G>A,p.R196Q |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18066569C>A,c.837G>T,p.E279D |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18066537A>G,c.869T>C,p.I290T |
| PRPS1L1(NM_175886,phosphoribosyl pyrophosphate synthetase 1-like 1,318aa) | g.7:18066525A>T,c.881T>A,p.M294K |
| PRPH(NM_006262,peripherin,470aa) | g.12:49691776C>T,c.1303C>T,p.R435W |
| PRPH(NM_006262,peripherin,470aa) | g.12:49691057G>A,c.996+1G>A,p.332Donor |
| PRPH(NM_006262,peripherin,470aa) | g.12:49690798G>A,c.829G>A,p.A277T |
| PRPH(NM_006262,peripherin,470aa) | g.12:49689975C>T,c.560C>T,p.T187M |
| PRPH(NM_006262,peripherin,470aa) | g.12:49689404G>T,c.421G>T,p.D141Y |
| PRPH(NM_006262,peripherin,470aa) | g.12:49689335C>A,c.352C>A,p.L118M |
| PRPH(NM_006262,peripherin,470aa) | g.12:49689009G>A,c.26G>A,p.R9Q |
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42690036G>A,c.37C>T,p.R13W |
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42689979T>C,c.94A>G,p.I32V |
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42689565C>T,c.508G>A,p.G170S |
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42672201T>G,c.730A>C,p.N244H |
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42666164G>C,c.910C>G,p.Q304E |
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42666145C>T,c.929G>A,p.R310K |
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42666128A>C,c.946T>G,p.W316G |