Table 1 Sequence variations in COL8A1.
Diagnosis | Sequence change | Amino acid change | Description |
---|---|---|---|
FECD | 1860C>T | A620A | Silent polymorphism |
FECD | 2240delT | – | After the end of coding sequence |
Changes numbered according to Genbank accession number NM_001850.
FECD, Fuchs endothelial corneal dystrophy.