For five patients (4%), the correct disease-causing variants were ranked outside the top 5 candidates (using the DEFAULT analysis settings): patient P43 (Leber congenital amaurosis; DHX38) with rank 7, patient P4 (achromatopsia; POC1B) with rank 9, patient P27 (congenital stationary night blindness; TRNT1) with rank 12, patient P80 (Stickler syndrome; COL9A3) with rank 39, and patient P118 (retinitis pigmentosa; RP1L1) with rank 42 (Table S1 and Table S4). The gene discussed is COL9A3; the disease is retinitis pigmentosa.