Table 4 of Katagiri, Mol Vis 2013; 19:2393-2406.
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 |