Table 2 of
de Sousa Dias, Mol Vis 2015; 21:857-870. Table 2 of
de Sousa Dias, Mol Vis 2015; 21:857-870.
Table 2. Mutations detected for each of the chimeric samples using multiplex PCR and next-generation sequencing.
| Chimerical/MID | Gene | Variant | % Variant | Reads per amplicon |
|---|---|---|---|---|
| 1 | RHO | c.119C>T | 60.0 | 30 |
| PRPF31 | c.735C>T | 50.7 | 301 | |
| IMPDH1 | c.926G>C | 42.3 | 167 | |
| 2 | RHO | c.644C>T | 33.9 | 149 |
| IMPDH1 | c.962C>T | 56.4 | 126 | |
| CRX | c.425A>G | 49.6 | 140 | |
| 3 | RHO | c.1040C>T | 51.2 | 84 |
| PRPF8 | c.6968_6988del21bp | 48.7 | 394 | |
| RP1 | c.2115delA | 40.0 | 15 | |
| 4 | PRFP31 | c.669_770insA | 35.0 | 314 |
| PRPF3 | c.1466C>A | 45.9 | 715 | |
| RP1 | c.2038C>T | 53.9 | 13 | |
| 5 | RHO | c.217_219delAAC | 58.1 | 74 |
| PRPF31 | c.328_330delATC | 45.4 | 326 | |
| PRPH2 | c.641G>A | 50.5 | 309 |