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

Abstract

<p>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 [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0121351#pone.0121351.ref020" target="_blank">20</a>]. NB: The <i>CTSC</i> gene is oriented the reverse strand, therefore the codon change p.G300D (GGC>GAC) is exhibiting as C>T.</p