Table 3 of
de Sousa Dias, Mol Vis 2015; 21:857-870. Table 3 of
de Sousa Dias, Mol Vis 2015; 21:857-870.
Table 3. Variants causing adRP that were found in 18 patients studied using the multiplex-PCR approach.
| Sample | Gene | Variant | % Variant | Reads per amplicon | Protein change | HGMD* |
|---|---|---|---|---|---|---|
| RPT65** | RHO | (g.9281_10108del) | – | – | Truncated | New |
| RPT100 | RHO | c.1034T>G | 44.6 | 65 | p.Val345Gly | New |
| RPN235 | RP1 | c.2029C>T | 62.5 | 19 | p.Arg677X | CM991103 |
| RP208 | PRPH2 | c.518A>T | 64.3 | 68 | p.Asp173Val | CM941209 |
| RP227 | RHO | c.512C>T | 63.0 | 54 | p.Pro171Leu | CM910335 |
| Tek14 | PRPH2 | c.584G>T | 42.9 | 163 | p.Arg195Leu | CM032999 |
| RPN240 | RHO | c.644C>T | 53.9 | 127 | p.Pro215Leu | CM003954 |