Table 1 of
Gu, Mol Vis 2016; 22:646-657.
Table 1. Variations identified in each family.
Items | ARRP07 | ARRP08 | ARRP09 | ARRP10 | ||||
---|---|---|---|---|---|---|---|---|
SNVs/Indels | SNVs | Indels | SNVs | Indels | SNVs | Indels | SNVs | Indels |
Initial variants | 1353 | 159 | 1289 | 147 | 2548 | 293 | 2046 | 307 |
Excluded variants found in SNP databases | 1312 | 149 | 52 | 135 | 2481 | 282 | 1979 | 293 |
Remaining variants | 41 | 9 | 52 | 12 | 67 | 11 | 67 | 14 |
Excluded non-coding variants | 34 | 9 | 43 | 12 | 60 | 11 | 58 | 12 |
Remaining variants for Sanger sequencing | 7 | 0 | 9 | 0 | 7 | 0 | 9 | 2 |
Excluded false positive variants | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Remaining variants | 7 | 0 | 9 | 0 | 7 | 0 | 9 | 2 |
Excluded variants failed intra-familial cosegregation analysis | 7 | 0 | 6 | 0 | 5 | 0 | 8 | 1 |
Remaining variants | 1 | 0 | 3 | 0 | 2 | 0 | 1 | 1 |