Table 3 of
Kumar, Mol Vis 2013; 19:2436-2450. Table 3 of
Kumar, Mol Vis 2013; 19:2436-2450.
Table 3. Genetics variations found in the CRYBA4, CRYBB1, CRYBB2 and GJA8 genes (Ensembl).
| Type of Variants | Gene Name | ||||
|---|---|---|---|---|---|
| CRYBA4 | CRYBB1 | CRYBB2 | GJA3 | BFSP1 | |
| Stop gained | 1 | 1 | – | – | – |
| Splice site | 2 | 2 | – | – | 6 |
| Essential splice site | 3 | 1 | – | – | – |
| Synonymous coding | 9 | 10 | 2 | 29 | 36 |
| Non-synonymous coding | 16 | 15 | 7 | – | 43 |
| Within non-coding gene | 52 | – | – | – | 53 |
| Frameshift coding | – | 1 | – | 2 | 4 |
| Intronic | 54 | 13 | 14 | 3 | 219 |
| 5 prime UTR | – | 1 | 1 | – | 9 |
| Upstream | – | – | – | – | 7 |
| downstream | – | – | – | – | 5 |
| All | 102 | 42 | 24 | 34 | 339 |