βigh3 gene mutations in 98 participants
| Mutations | Sequences | Exon number | Number of cases | Disease |
|---|---|---|---|---|
| ACD, Avellino corneal dystrophy; GCD, granular corneal dystrophy; LCD I, lattice corneal dystrophy type I; RBCD, Reis–Bucklers corneal dystrophy. | ||||
| R124H | CGC to CAC | |||
| Heterozygotic | 4 | 57 | ACD | |
| Homozygotic | 10 | ACD | ||
| R124C | CGC to TGC | |||
| Heterozygotic | 4 | 1 | LCD I | |
| R124L | CGC to CTC | |||
| Heterozygotic | 4 | 1 | RBCD | |
| R555W | CGG to TGG | 12 | 2 | GCD |
| None | No mutation | 4 and 12 | 27 | |
| Total | 98 | |||