Table 4. Number of mutations after each filtering step.
| Filtering step | Number of mutations |
|---|---|
| 1. Raw single-nucleotide variants plus insertion–deletion polymorphisms |
3,506,741 |
| 2. Mutations capable of changing amino acid sequence |
19,574 |
| 3. Mutations filtering by the snpEff score and existing at a frequency of less than 1% in 1000 genomes |
3,685 |
| 4. Mutations filtering by the pattern of inheritance |
17 |
| 5. Mutations expressed in retina, confirmed by SAGE databasea |
9 |
| 6. Mutations narrowed down using BIOBASE Biologic Databaseb and RetNet databasec | 1 |