Sequencing identified 22 rare coding variants (MAF<0.5%) (20 nonsynonymous variants and 2 frameshift deletions). These variants occurred throughout the protein sequence (Figure 1). Each variant occurred in 1-4 individuals in the primary sample (Supplementary Figure S1). Furthermore, 9 of the 22 rare variants were seen in a single individual and were previously unreported in large reference datasets20 (Exome Variant Server) (Supplementary Table S1).
