Schematic workflow for the identification of genetic variants involved in presbycusis. WES data from mARHL and sARHL cases and from controls were filtered on the basis of AF in the European population: below 5, 0.1, and 0.01%. Only the variants predicted to be pathogenic by CADD, MutationTaster, PolyPhen-2, and SIFT, with a maximal score, were selected for further analysis. Indel, insertion/deletion.