Leaking splicing was also noted in two instances resulting in detection of the canonical transcript in 26.3% and 21.3% of transcripts, respectively.
Line 156 – the authors refer to “ad-hoc rules” that they have developed for consideration of the different coding transcripts associated with the same spliceogenic variant in variant interpretation and classification. Although a reference is provided so that the reader can look up what these ad-hoc rules are, it would also be helpful to briefly describe these in the current manuscript.