Figure 2. Distribution and frequency of variants in KERA, CHRDL1, VSX1, TUBA3D, ZNF469 and PRDM5 in our gnomAD and our cohort, pathogenic/likely pathogenic (P/LP) variants in our cohort, and variants reported in literature. The green font indicates benign/likely benign (B/LB) variants. Truncation variants include splicing variants, frameshift variants, and nonsense variants.