Table 3.
Variants data from RP1 patients.
| RP1 VARIANTS | HGMD ACCESSION | REFERENCE | ALLELE FREQUENCY IN THIS STUDY |
|---|---|---|---|
| c.469delG (p.Val157Trpfs*16) | CD1510116 | Lafont et al.5 | 1/16 |
| c.1186 C > T (p.Arg396*) | CM1312698 | Bocquet et al.10 | 4/16 |
| c.1234dupA (p.Met412Asnfs*7) | NOT REPORTED | 1/16 | |
| c.1265dupC (p.Ala423Cysfs*2) | NOT REPORTED | 1/16 | |
| c.1625C > G (p.Ser542*) | CM1211361 | Avila-Fernandez et al.4 Wang et al.17 El Shamieh et al.3 Ezquerra-Inchausti et al.18 Pérez-Carro et al.19 | 5/16 |
| C.3843delT (p.Pro1282Leufs*12) | CD1312799 | Eisenberger et al.11,17,20,21 | 2/16 |