Table 2 of
Ravesh, Mol Vis 2018; 24:679-689. Table 2 of
Ravesh, Mol Vis 2018; 24:679-689.
Table 2.
| Family | Gene | RefSeq ID | Nucleotide Variant | Amino Acid Alteration | Zygosity | Prediction Tools | ACMG Classification | ||
|---|---|---|---|---|---|---|---|---|---|
| Provean | SIFT | CADD Score | |||||||
| A | TTC8 | NM_144596 | c.586_589delTTTG | p.F196Sfs*56 | Hom. | N/A | N/A | 35 | Likely Pathogenic |
| B | CRB1 | NM_201253 | c.2389T>C | p.S797P | Hom. | Damaging | Damaging | 18.47 | Likely Pathogenic |
| C | LRP5 | NM_001291902 | c.2707dupA | p.S903Kfs*66 | Hom. | N/A | N/A | 35 | Likely Pathogenic |
| D | MERTK | NM_006343 | c.584–1G>T | Splice Defect | Hom. | N/A | N/A | N/A | Likely Pathogenic |
| E | ABCA4 | NM_000350 | c.1819G>C | p.G607R | Hom. | Damaging | Damaging | 33 | Pathogenic |