Table 3. The two variants that can't be excluded.
Variations | Bioinformation prediction | Variations in | ||||||||
Family ID | Gene | Nucleotide | Amino acid | Status | Polyphen-2 | SIFT | Splice | patients | controls | Note |
Family 1 | CRYBA4 | c.26C>T | p.A9V | Hetero | Benign | Tolerate | / | 1/18 | 0/96 | Novel |
Family 5 | GJA8 | c.367G>A | p.G123S | Hetero | Benign | Tolerate | / | 1/18 | 0/96 | COSM1333689 |
Note: Hetero = heterozygosity.