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Phenotypes Comparison Between Probands With the Same Mutations
| Mutation | c.1589G>A | c.1282_1285del | c.313A>G | c.205C>T | CNV (Exon1-2) |
|---|---|---|---|---|---|
| No. of probands | 6 | 10 | 12 | 3 | 4 |
| Stages | |||||
| 0 | 0 | 0 | 0 | 0 | 0 |
| 1 | 0 | 1 | 0 | 0 | 0 |
| 2 | 1 | 0 | 0 | 0 | 0 |
| 3 | 1 | 1 | 2 | 0 | 0 |
| 4 | 2 | 5 | 4 | 1 | 4 |
| 5 | 0 | 2 | 1 | 0 | 0 |
| Others | 2 | 1 | 5 | 0 | 0 |
Others, rhegmatogenous retinal detachment or vitreous hemorrhage which cannot classify the FEVR stages.
