Table 2 of
Gao, Mol Vis 2016; 22:234-242. Table 2 of
Gao, Mol Vis 2016; 22:234-242.
Table 2. Six candidate mutations detected from the whole exome sequencing.
| Gene | Gene Bank ID | Exon | Nucleotide change | Amino acid change |
|---|---|---|---|---|
| NRL | NM_006177 | 2 | c.146C>T | p.P49L |
| TRIM32 | NM_012210 | 2 | c.284T>C | p.V95A |
| CERKL | NM_ 201548 | 2 | c.346A>G | p.T116A |
| STL2 | NM_001854 | 33 | c.2645G>A | p.R882H |
| TREX1 | NM_016381 | 1 | c.161C>A | p.P54Q |
| BEST1 | NM_001139443 | 9 | c.1687C>T | p.R563C |