Table 2. Variations identified in each family.
Items | ARRP05 | ARRP06 | ||
---|---|---|---|---|
SNVs/Indels | SNVs | Indels | SNVs | Indels |
Initial variants | 2966 | 393 | 2989 | 401 |
Excluded variants found in SNP databases | 2880 | 377 | 2863 | 378 |
Remaining variants | 86 | 16 | 126 | 23 |
Excluded non-coding variants | 75 | 15 | 92 | 21 |
Remaining variants | 11 | 1 | 34 | 2 |
Excluded variants not shared by the two sequenced samples | 8 | 1 | 29 | 2 |
Remaining variants for Sanger sequencing | 3 | 0 | 5 | 0 |
Excluded false positive variants | 0 | - | 0 | - |
Remaining variants | 3 | - | 5 | - |
Excluded variants failed intrafamilial cosegregation analysis | 1 | - | 3 | - |
Remaining variants | 2 | - | 2 | - |
Found in 100 unrelated controls | 0 | - | 0 | - |
Identified RP causative mutations | 2 | - | 2 | - |
Abbreviations: SNVs: single nucleotide variations; Indels: insertions and deletions.