Table 2 of Li, Mol Vis 2011; 17:3326-3332.
Gene |
Nucleotide change |
Amino acid change |
Conservation |
Computational prediction |
Remark |
Occurance in controls |
Report |
||
---|---|---|---|---|---|---|---|---|---|
Blosum62* | PolyPhen or Splice Site | SIFT | |||||||
CRB1 | c.3221T>C | L1074S | Yes | 6 | probably damaging | damaging | Pathogenic | 0/192 | This study |
c.2677–2A>C | N/A | N/A | N/A | splicing site abolished | N/A | Pathogenic | 0/192 | This study | |
SPATA7 | c.938C>A | A313D | Yes | 6 | probably damaging | damaging | Pathogenic | 0/192 | This study |