Table 1 variants identified in this study
Family | Gene | Nucleotide variant | Protein variant | Polyphen | Mutation Taster | SIFT | PROVEN | VF in gnomAD | Previously reported |
|---|---|---|---|---|---|---|---|---|---|
P01 | PDE6A | c.1349 T > C | p. Phe450Ser | Benign | Disease causing | Tolerated | Neutral | 0.21% | Yes [9] |
PDE6A | c.1246G > A | p. Asp416Asn | Probably damaging | Disease causing | Deleterious | Deleterious | 0% | No | |
CA4 | c.243G > A | p. Trp81* | NA | NA | NA | NA | 0% | No | |
P02 | PDE6A | c.1685G > A | p. Arg562Gln | Possibly damaging | Disease causing | Deleterious | Deleterious | 0.0028% | Yes [10] |
PDE6A | c.1467 + 1G > C | p.? | NA | NA | NA | NA | 0.0080% | ||
P03 | PDE6A | c.2275-2A > G | p.? | NA | NA | NA | NA | 0% | Yes [14] |
PDE6A | c.1957C > T | p. Arg653* | NA | NA | NA | NA | 0.0028% | Yes [15] | |
P04 | PDE6A | c.1747 T > A | p. Tyr583Asn | Possibly damaging | Disease causing | Tolerated | Deleterious | 0% | No |
PDE6A | c.1651A > G | p. Lys551Glu | Benign | Disease causing | Deleterious | Deleterious | 0% | Yes [10] | |
OPTN | c.1634G > A | p. Arg545Gln | Benign | Disease causing | Tolerated | Neutral | 0.3103% | ||
P05 | PDE6A | c.1651A > G | p. Lys551Glu | Benign | Disease causing | Deleterious | Deleterious | 0% | Yes [10] |
PDE6A | c.285C > A | p. Ser95Arg | Possibly damaging | Disease causing | Deleterious | Deleterious | 0% | Yes [10] | |
P06 | PDE6B | c.401 T > C | p. Leu134Pro | Probably damaging | Disease causing | Deleterious | Deleterious | 0.0037% | No |
PDE6B | c.2293G > C | p. Ala765Pro | Benign | Polymorphism | Deleterious | Neutra | 0.04182% | No | |
P07 | PDE6B | c.385G > A | p. Glu129Lys | Probably damaging | Disease causing | Deleterious | Deleterious | 0.0014% | Yes [18] |
PDE6B | c.1610-1612del | p. 537-538del | NA | NA | NA | NA | 0% | No | |
P08 | PDE6B | c.1467 + 1G > C | p.? | NA | NA | NA | NA | 0.0008% | Yes [19] |
PDE6B | c.2204 T > C | p. Leu735Pro | Probably damaging | Disease causing | Deleterious | Deleterious | 0.0004% | Yes [10] | |
RHO | c.688G > A | p. Val230Ile | Probably damaging | Disease causing | Tolerated | Neutral | 0.0039% | No | |
ADGRA3 | c.921-1G > A | p.? | NA | NA | NA | NA | NA | No |