| 基因名 | 突变 |
|---|---|
| RPIA(NM_144563,ribose 5-phosphate isomerase A,311aa) | g.2:89037545C>T,c.790C>T,p.R264W |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113334490C>T,c.1990C>T,p.R664C |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113328777G>A,c.1744G>A,p.A582T |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113328684C>T,c.1651C>T,p.R551C |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113328663C>T,c.1630C>T,p.R544C |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113321161G>T,c.1390G>T,p.V464L |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113319619G>A,c.1294G>A,p.V432I |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113314623C>T,c.1123C>T,p.P375S |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113314609G>A,c.1109G>A,p.R370H |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113313526G>A,c.926G>A,p.R309H |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113312971G>T,c.879G>T,p.Q293H |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113312937C>T,c.845C>T,p.S282L |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113306398G>A,c.608G>A,p.R203Q |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113304599G>A,c.398G>A,p.R133H |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113266178C>T,c.55C>T,p.R19W |
| RPH3A(NM_001143854,rabphilin 3A homolog (mouse),694aa) | g.12:113266158G>A,c.35G>A,p.R12H |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:96991G>A,c.524C>T,p.P175L |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:96970G>A,c.545C>T,p.T182M |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:96929G>A,c.586C>T,p.R196C |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:96910C>T,c.605G>A,p.R202Q |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:65551G>A,c.770C>T,p.P257L |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:65506G>A,c.815C>T,p.T272M |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:65456G>A,c.865C>T,p.R289X |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:65446G>A,c.875C>T,p.P292L |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:63683G>A,c.908C>T,p.A303V |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:171093C>T,c.191G>A,p.R64Q |
| RPH3AL(NM_006987,rabphilin 3A-like (without C2 domains),315aa) | g.17:169338C>T,c.224G>A,p.R75Q |
| RPGR(NM_001034853,retinitis pigmentosa GTPase regulator,1152aa) | g.X:38182705del,c.101del,p.34fs |