Table 2.
Prediction of pathogenicity for all novel variants.
| Gene | DNA change | Protein change | Mutation taster | Poly Phen | SIFT | Varsome | CADD score | PhyloP score | Provean | Allele frequency in databases | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Iranome (N = 800) | EVS (N = 6515) | gnomAD(N = 141,456) | 1,000Genomes | ||||||||||
| ABCA4 | c.3260A>G | p.Glu1087Gly | DC | PD | Dam | P | 32 | 6.22 | Del | Not found | Not found | 0.00003 | Not found |
| RPE65 | c.1088C>G | p.Pro363Arg | DC | PD | Dam | P | 28.0 | 5.76 | Del | Not found | Not found | Not found | Not found |
| c.104 C>T | p.Pro35Leu | DC | PD | Dam | LP | 30 | 5.77 | Del | Not found | Not found | Not found | Not found | |
| SPATA7 | c.250 C>T | p.Gln84Ter | DC | NA | NA | P | 37 | 2.51 | NA | Not found | Not found | Not found | Not found |
| MERTK | c.392G>A | p.Trp131Ter | DC | NA | NA | P | 37 | 3.01 | NA | Not found | Not found | 0.000003 | Not Found |
| USH2A | c.14926G>A | p.Gly4976Ser | DC | PD | Dam | LP | 25.4 | 5.8 | Del | Not found | Not found | 0.00008 | Not Found |
Dam damaging; DC disease causing; Del deleterious; LP likely pathogenic; P pathogenic; PD probably damaging; NA not applicable.