Table 2 of
Knight, Mol Vis 2022; 28:257-268. Table 2 of
Knight, Mol Vis 2022; 28:257-268.
Table 2. Genetic findings of the four individuals described in this case series.
| Individual | A-II-1 | A-II-2 | B-II-1 | C-II-2 |
|---|---|---|---|---|
| cDNA | c.767_786del/ c.2270dupG | c.767_786del/ c.2270dupG | c.767_786del/ c.2594G>A | c.767_786del/ c.767_786del |
| Protein | p.Gln256Profs*38/ p.Gly758Trpfs*59 | p.Gln256Profs*38/ p.Gly758Trpfs*59 | p.Gln256Profs*38/ p.Arg865His | p.Gln256Profs*38/ p.Gln256Profs*38 |
| Pathogenicitya | pathogenic/ likely pathogenic | pathogenic/ likely pathogenic | pathogenic/ likely pathogenic | pathogenic/ pathogenic |