Another example is represented by two sisters, LL20 and LL253, both suffering from cone-rod dystrophy and found to carry a novel intronic variant, NM_001349884.2:c.517+5C>A, in DRAM2, which was prioritized based on a dbscSNV_ADA score of 0.66 (Table S4). Here, DRAM2 is linked to Cone rod dystrophy.