Research Article
Cone Dystrophy in Patient with Homozygous RP1L1 Mutation
Table 2
Summary of RP1L1 mutation, NGS results, cosegregation, and computational prediction results.
| | Gene | Mutation | Cosegregation | PolyPhen-2 | SIFT |
| | RP1L1 | c.3628T>C
p.S1210P | Yes | Probably damaging | Damaging | | PCDH15 | c.2768C>T
p.P923L | No | Benign | Damaging | | RPGRIP1 | c.3634G>A
p.V1212I | No | Probably damaging | Tolerated | | GPR98 | c.7264C>T
p.L2422F | No | Benign | Tolerated |
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