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


Table 4. Number of mutations after each filtering step

Filtering step Number of mutations
1. Raw single-nucleotide variants plus insertiondeletion 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