Lines 250-251 and 263-265– In these lines the authors discuss transcripts in which the encoded proteins lack some beta strands.
Lines 259-274 – This paragraph refers to evidence used in the variant interpretation of three aberrant transcripts that kept the open reading-frame (Δ(E2p3), Δ(E5) and ▼(E8p3)). However, the corresponding tables that summarizes variant classification according to the ACMG/AMP-based criteria (Table 2), does not include these transcript isoform names. As such, in order to correlate the discussion in this paragraph with the information in table 2, the reader also needs to cross reference Table 1 or 3. Incorporation of the transcript isoform names in table 2 would assist the reader in correlating this discussion of transcript isoforms with the corresponding evidence used to classify each of the variants.