Table 3. Mutations identified in the present study.
| Family ID | Variation | Exon | Bioinformatics Analysis | HGMD/Novel | Frequency in Controls | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino Acid | Type | Status | SIFT | PolyPhen | CONDEL | Proven | ||||
| ARRP05 | c.490C>T | p.R164* | Nonsense | Het | 4 | NA | NA | NA | NA | Novel | 0/100 |
| c.6416G>A | p.C2139Y | Missense | Het | 31 | D | PD | NE | DE | CM102730 | 0/100 | |
| ARRP06 | c.7919G>A | p.W2640* | Nonsense | Het | 41 | NA | NA | NA | NA | CM085393 | 0/100 |
| c.8861T>C | p.F2954S | Missense | Het | 43 | T | B | DE | NE | Novel | 0/100 | |
Abbreviations: Het: heterozygous; NA: not available; D: damaging; PD: probably damaging; NE: neutral; DE: deleterious; T: tolerated; B: benign; HGMD: the Human Gene Mutation Database.