FAP and Leber congenital amaurosis: Of all the variants associated with LCA (n = 73), 71.2% (n = 52) were missense variants, and 28.8% (n = 21) were nonsense (n = 5), frameshift (n = 9), or splice-site mutations (n = 7) that severely affected protein function, while in the FAP group (n = 16), 93.75% (n = 15) variants were missense, and only one splice-site mutation was identified (Fig. 1c).