These variants were then mapped to their respective positions on the human NM_001142769 transcript and color-coded based on the associated disease phenotype: variants associated with non-syndromic hearing loss (DFNB23), variants linked to USH1F with both deafness and blindness, and variants connected with non-syndromic retinitis pigmentosa (NSRP). This evidence concerns the gene PCDH15 and deafness.