Fig. 1.

A2ML1 variants identified in families and probands with otitis media and their occurrence within protein domains. Domain names as in footnote to Table 1. Variants on top of the boxed representation of the A2ML1 protein are novel and are included in this report; below are previously published (Santos-Cortez et al. 2015). Variants in bold red font are pathogenic/likely pathogenic while the rest of variants are of unknown significance.