Table 2. Pathogenicity predictions for new missense mutations.
| SIFT | PolyPhen-2 | ||||
| Gene | Mutation | Score | Prediction | Score | Prediction |
| CRB1 | p.H568Y | 1 | Tolerated | 0,999 | Probably damaging |
| GUCY2D | p.I916T | 0,002 | Damaging | 1 | Probably damaging |
| RD3 | p.K87E | 0,01 | Damaging | 0,997 | Probably damaging |
| SNRNP200 | p.R681L | 0 | Damaging | 1 | Probably damaging |
| USH2A | p.C584F | 0 | Damaging | 1 | Probably damaging |
| USH2A | p.F1442S | 0 | Damaging | 1 | Probably damaging |
| USH2A | p.Y2898S | 0 | Damaging | 0,998 | Probably damaging |
| USH2A | p.R4192C | 0 | Damaging | 0,998 | Probably damaging |
| ABCA4 | p.C2137Y | 0 | Damaging | 1 | Probably damaging |
Dash(−) means no splice site predicted.