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 |