We observed 42 different truncating variants in 30 genes (Table 3); 40 were in 28 genes from the X-specific region of the X chromosome and 2 were in 2 genes from the pseudoautosomal region. In addition, we found four ‘read-through’ variants that cause a translational frameshift close to the wild-type termination codon and extend the open reading frame into previously untranslated 3′ DNA (described further in Supplementary Note online).
