Table 2. SLC7A14 mutations identified in RP patients.
| Proband | Sex | Age | Onset | BCVA | SLC7A14 mutation | Prediction | Mutation in known genes |
|---|---|---|---|---|---|---|---|
| W60-1 | M | 35 | 10 | HM/HM | c.988G>A (p.G330R) homo | deleterious | Excluded by TES |
| F105-1 | M | 15 | 5 | 0.04/0.1 | c.1391G>T (p.C464F) homo | deleterious | Excluded by TES |
| W41-1 | F | 53 | 18 | HM/NLP | c.988G>A (p.G330R) hetero | deleterious | Excluded by TES |
| c.2122T>G (p.F708V) hetero | deleterious | — | |||||
| W148-1 | M | 29 | 19 | 0.4/0.4 | c.395C>T (p.A132V) hetero | deleterious | Excluded by TES |
| c.1391G>T (p.C464F) hetero | deleterious | — | |||||
| W201-1 | F | 42 | 20 | 0.2/0.25 | c.988G>A (p.G330R) hetero | deleterious | Excluded by TES |
| c.2122T>G (p.F708V) hetero | deleterious |
BCVA, best corrected visual acuity; F, female; HM, hand motion; M, male; NLP, no light perception; TES, targeted exome sequencing.