We have included explanations of these acronyms in text and Table 1 and have modified the following sentence: “Of the 19 characterized transcripts, 14 introduced premature termination codons (PTC; PTC transcripts), and of these, 10 are predicted to be degraded by the Nonsense-Mediated Decay pathway (NMD; PTC-NMD transcripts) that is considered convincing evidence of deleteriousness (Supplementary Table S3).
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)).