RP1L1 and occult macular dystrophy: Notably, the common RP1L1 (NM_178857.6) truncating variants c.416dupC (p.Gly140fs, MAF = 8%), c.324_325insT (p.Pro109fs, MAF = 2%), and c.1972C>T (p.Arg658∗, MAF = 0.3%) suggest that knockout of RP1L1 (amino acids 109–2,400, 95.5% of RP1L1) does not induce OMD.