SPINK6 and occult macular dystrophy: We also compared other pathogenicity tools, such as metaSVM and metalR (Dong et al., 2015), that provide an aggregate prediction score from multiple individual tools and these tools only identified two AIMs as damaging: rs12186491 maps to SPINK6, a serine protease inhibitor kazal-type 6 gene which has been found to regulate nasopharyngeal carcinoma metastasis through EGFR signaling, and rs6601495 encodes for Retinitis Pigmentosa 1-Like 1 Protein which is associated with diseases like occult macular dystrophy and retinitis pigmentosa (Zheng et al., 2017; Noel and MacDonald, 2020).