Figure 1. Variants in the collagen, type VIII, alpha 2 (COL8A2) gene on chromosome 1p34.3 that have been detected in patients with Fuchs endothelial corneal dystrophy (FECD). Solid cylinders
represent coding portions of the gene, while light gray cylinders represent untranslated regions. The lines connecting each
cylinder indicate splicing events, and the start and stop codons of the gene are indicated with bold font. The gene is drawn
from 3′ to 5′ reflecting its physical orientation on the reverse strand of the reference genome. All variants in this figure
are taken from previous FECD reports in the literature (black font) or are coding variants detected in African Americans with
FECD in this report (red font). Variants are indicated with double-headed arrows: black arrows indicate coding-nonsynonymous
variants (produce an amino acid change), while white arrows indicate coding-synonymous variants (do not produce an amino acid
change). Variants marked with an asterisk (*) are newly identified variants in African Americans with FECD that have not been
previously reported in patients with FECD.