Table 3 Variants data from RP1 patients.

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