| 基因名 | 突变 |
|---|---|
| PRPH2(NM_000322,peripherin 2 (retinal degeneration, slow),346aa) | g.6:42666061T>C,c.1013A>G,p.D338G |
| PRPF8(NM_006445,pre-mRNA processing factor 8,2335aa) | g.17:1587828G>A,c.38C>T,p.P13L |
| PRPF8(NM_006445,pre-mRNA processing factor 8,2335aa) | g.17:1580974C>G,c.1869G>C,p.K623N |
| PRPF8(NM_006445,pre-mRNA processing factor 8,2335aa) | g.17:1565234T>C,c.3988A>G,p.M1330V |
| PRPF6(NM_012469,pre-mRNA processing factor 6,941aa) | g.20:62630471C>T,c.845C>T,p.P282L |
| PRPF4(NM_004697,PRP4 pre-mRNA processing factor 4 homolog (yeast),522aa) | g.9:116053859G>A,c.1488G>A,p.M496I |
| PRPF4(NM_004697,PRP4 pre-mRNA processing factor 4 homolog (yeast),522aa) | g.9:116053252C>T,c.1331C>T,p.T444I |
| PRPF4(NM_004697,PRP4 pre-mRNA processing factor 4 homolog (yeast),522aa) | g.9:116053245G>A,c.1324G>A,p.V442I |
| PRPF4(NM_004697,PRP4 pre-mRNA processing factor 4 homolog (yeast),522aa) | g.9:116049104G>A,c.931G>A,p.D311N |
| PRPF4(NM_004697,PRP4 pre-mRNA processing factor 4 homolog (yeast),522aa) | g.9:116041249A>G,c.233A>G,p.H78R |
| PRPF4B(NM_003913,PRP4 pre-mRNA processing factor 4 homolog B (yeast),1007aa) | g.6:4037798G>A,c.1406G>A,p.R469Q |
| PRPF4B(NM_003913,PRP4 pre-mRNA processing factor 4 homolog B (yeast),1007aa) | g.6:4037711G>A,c.1319G>A,p.R440Q |
| PRPF4B(NM_003913,PRP4 pre-mRNA processing factor 4 homolog B (yeast),1007aa) | g.6:4032608G>A,c.857G>A,p.R286H |
| PRPF4B(NM_003913,PRP4 pre-mRNA processing factor 4 homolog B (yeast),1007aa) | g.6:4032362G>A,c.611G>A,p.G204D |
| PRPF4B(NM_003913,PRP4 pre-mRNA processing factor 4 homolog B (yeast),1007aa) | g.6:4031998A>G,c.247A>G,p.I83V |
| PRPF4B(NM_003913,PRP4 pre-mRNA processing factor 4 homolog B (yeast),1007aa) | g.6:4031876G>A,c.125G>A,p.R42H |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50037529C>G,c.2436C>G,p.H812Q |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50037148G>A,c.2348G>A,p.R783Q |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50036064A>C,c.1931A>C,p.E644A |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50036057A>G,c.1924A>G,p.K642E |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50036040G>A,c.1907G>A,p.R636Q |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50028990G>C,c.1110G>C,p.Q370H |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50027271A>G,c.521A>G,p.Y174C |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50026836A>G,c.388A>G,p.I130V |
| PRPF40B(NM_001031698,PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae),892aa) | g.12:50025308C>T,c.209C>T,p.A70V |
| PRPF40A(NM_017892,PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae),930aa) | g.2:153549562A>T,c.318T>A,p.D106E |
| PRPF40A(NM_017892,PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae),930aa) | g.2:153533070T>C,c.880A>G,p.I294V |
| PRPF3(NM_004698,pre-mRNA processing factor 3,683aa) | g.1:150321686G>C,c.1897G>C,p.V633L |