Table 2 Mutations identified in this study.
Family | Gene | RefSeq ID | Nucleotide variant | Protein variant | Polyphen | SIFT | Mutation Taster | Previously reported |
|---|---|---|---|---|---|---|---|---|
MA62 | RHO | NM_000539 | c.448G > A | p.E150K | Probably Damaging | Deleterious | Disease causing | Yes21 |
MA94 | CNGB3 | NM_019098 | c.646C > T | p.R216X | Probably Damaging | Deleterious | Disease causing | Yes22 |
MA132 | PDE6A | NM_000440 | c.1408-2 A > G | Splice defect | NA | NA | NA | Yes23 |
MA25 | CNGA3 | NM_001298 | c.1306C > T | p.R436W | Probably Damaging | Deleterious | Disease causing | |
MA69 | CNGA3 | NM_001298 | c.991G > C | p.G331R | Probably Damaging | Deleterious | Disease causing | No |
MA117 | RPGRIP1 | NM_020366 | c.2656C > T | p.L886F | Damaging | Deleterious | Disease causing | No |
MA97 | CNGB1 | NM_001297 | c.413-1G > A | Splice defect | NA | NA | NA | No |
