| Geen |
Muutus |
| AMT |
c.-55C>T |
| ATM |
c.-30-1G>T |
| ATM |
c.2639-384A>G |
| ATM |
c.2839-579_2839-576delAAGT |
| ATM |
c.5763-1050A>G |
| CACNA1A |
c.631+5G>A |
| CACNA1A |
c.4093-3C>G |
| CACNA1A |
c.5403+2T>C |
| CEP290 |
c.2991+1655A>G |
| CEP290 |
c.1910-11T>G |
| CEP290 |
c.1066-1G>A |
| CEP290 |
c.1190-2A>G |
| CEP290 |
c.2052+1_2052+2delGT |
| CEP290 |
c.4438-3delC |
| CEP290 |
c.4813-2A>G |
| CEP290 |
c.3461+1G>A |
| CEP290 |
c.6135+2T>A |
| COQ8A |
c.*72dupG |
| DARS |
c.228-22T>A |
| GSS |
c.-9+5G>A |
| KCNJ10 |
c.-1+1G>T |
| OFD1 |
c.935+706A>G |
| OFD1 |
c.1130-22_1130-19delAATT |
| OFD1 |
c.413-10T>G |
| PAX6 |
c.142-14C>G |
| PAX6 |
c.-52+1G>A |
| PAX6 |
c.-52+5delG |
| PAX6 |
c.-52+3_-52+6delAAGTinsTG |
| PAX6 |
c.-52+3_-52+4delAA |
| PAX6 |
c.-128-2delA |
| PAX6 |
c.-129+2T>A |
| PAX6 |
c.-129+1G>A |
| PAX6 |
c.-138_-129+3delCCTCATAAAGGTG |
| PEX7 |
c.-45C>T |
| PNKP |
c.1386+49_1387_33delCCTCCTCCCCTGACCCC |
| SERAC1 |
c.92-165C>T |
| SERAC1 |
c.92-239G>C |
| SLC2A1 |
c.680-11G>A |
| SLC52A2 |
c.-110-1G>A |
| STUB1 |
c.*240T>C |
| SYNE1 |
c.15918-12A>G |
| TMEM231 |
c.824-11T>C |
| TPP1 |
c.887-18A>G |
| TTC19 |
c.-42G>T |
