Fig 1. Reads (from PCD affected sibling) mapped to the human genome hg19 at the p.(G300D) mutation.

The read depth is 46 (not all shown due to space restrictions) with twenty six of the reads having a G at the loci and twenty having an A. The image was created using IGV [20]. NB: The CTSC gene is oriented the reverse strand, therefore the codon change p.G300D (GGC>GAC) is exhibiting as C>T.