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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 |
