| 基因名 | 突变 |
|---|---|
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145107999G>A,c.2905C>T,p.R969C |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145107390C>T,c.3265G>A,p.V1089I |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145106939_145106940del,c.3501-1del,p.1167Acceptordel |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145106274C>T,c.3820G>A,p.E1274K |
| OPLAH(NM_017570,5-oxoprolinase (ATP-hydrolysing),1288aa) | g.8:145106273T>A,c.3821A>T,p.E1274V |
| OPHN1(NM_002547,oligophrenin 1,802aa) | g.X:67652748C>T,c.115G>A,p.V39I |
| OPHN1(NM_002547,oligophrenin 1,802aa) | g.X:67293047C>T,c.1781G>A,p.R594H |
| OPHN1(NM_002547,oligophrenin 1,802aa) | g.X:67293029G>A,c.1799C>T,p.T600M |
| OPHN1(NM_002547,oligophrenin 1,802aa) | g.X:67283792C>A,c.2062G>T,p.A688S |
| OPHN1(NM_002547,oligophrenin 1,802aa) | g.X:67273508G>A,c.2303C>T,p.A768V |
| OPALIN(NM_001040103,oligodendrocytic myelin paranodal and inner loop protein,131aa) | g.10:98111136G>A,c.41C>T,p.T14M |
| OPALIN(NM_001040103,oligodendrocytic myelin paranodal and inner loop protein,131aa) | g.10:98109555G>A,c.71C>T,p.A24V |
| OPALIN(NM_001040103,oligodendrocytic myelin paranodal and inner loop protein,131aa) | g.10:98109535C>A,c.91G>T,p.A31S |
| OPALIN(NM_001040103,oligodendrocytic myelin paranodal and inner loop protein,131aa) | g.10:98105840G>A,c.254C>T,p.T85M |
| OPALIN(NM_001040103,oligodendrocytic myelin paranodal and inner loop protein,131aa) | g.10:98105783G>A,c.311C>T,p.P104L |
| OPALIN(NM_001040103,oligodendrocytic myelin paranodal and inner loop protein,131aa) | g.10:98105765C>T,c.329G>A,p.R110H |
| OPA3(NM_025136,optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia),179aa) | g.19:46056834G>A,c.478C>T,p.R160C |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193361167A>G,c.1311A>G,p.I437M |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193360819G>A,c.1286G>A,p.G429D |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193355051C>T,c.1016C>T,p.T339M |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193343941C>T,c.739C>T,p.R247C |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193336676C>T,c.629C>T,p.A210V |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193334991G>A,c.473G>A,p.S158N |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193332823C>T,c.344C>T,p.A115V |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193332799C>T,c.320C>T,p.S107L |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193332781G>A,c.302G>A,p.R101H |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193332549A>G,c.70A>G,p.I24V |
| OPA1(NM_130837,optic atrophy 1 (autosomal dominant),1015aa) | g.3:193332522C>A,c.43C>A,p.Q15K |