| 基因名 | 突变 |
|---|---|
| OPN1LW(NM_020061,opsin 1 (cone pigments), long-wave-sensitive,364aa) | g.X:153418541T>G,c.538T>G,p.S180A |
| OPN1LW(NM_020061,opsin 1 (cone pigments), long-wave-sensitive,364aa) | g.X:153418535A>G,c.532A>G,p.I178V |
| OPN1LW(NM_020061,opsin 1 (cone pigments), long-wave-sensitive,364aa) | g.X:153418524C>T,c.521C>T,p.A174V |
| OPN1LW(NM_020061,opsin 1 (cone pigments), long-wave-sensitive,364aa) | g.X:153418514G>A,c.511G>A,p.V171M |
| OPN1LW(NM_020061,opsin 1 (cone pigments), long-wave-sensitive,364aa) | g.X:153418460C>A,c.457C>A,p.L153M |
| OPN1LW(NM_020061,opsin 1 (cone pigments), long-wave-sensitive,364aa) | g.X:153416362C>A,c.347C>A,p.S116Y |
| OPN1LW(NM_020061,opsin 1 (cone pigments), long-wave-sensitive,364aa) | g.X:153416346A>G,c.331A>G,p.I111V |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145114844C>T,c.92G>A,p.R31Q |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145114782G>A,c.154C>T,p.R52C |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145113903C>G,c.443G>C,p.G148A |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145113536C>T,c.646G>A,p.V216M |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145113467C>T,c.715G>A,p.A239T |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145113442C>T,c.740G>A,p.R247H |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145113241T>G,c.850A>C,p.S284R |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145113189G>C,c.902C>G,p.T301S |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145112983C>T,c.1018G>A,p.V340I |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145112971C>T,c.1030G>A,p.A344T |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145112777G>A,c.1138C>T,p.P380S |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145112538G>A,c.1235C>T,p.P412L |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145112508G>A,c.1265C>T,p.A422V |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145112398G>A,c.1375C>T,p.R459C |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145112365G>A,c.1408C>T,p.R470C |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145111615C>A,c.1750G>T,p.G584C |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145111353C>T,c.1918G>A,p.G640S |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145111298C>A,c.1973G>T,p.R658L |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145109514G>A,c.2636C>T,p.A879V |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145109485C>T,c.2665G>A,p.G889R |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145108290G>A,c.2693C>T,p.T898M |