Sanger validation of candidates.

<p>Of the filtered 41 candidates, 21 variants were confirmed by Sanger sequencing. Two examples are provided: <i>TMPO</i> p.Arg690Cys variant (C>T) for a confirmed variant and an <i>LDB</i> variant (A>T) for an unconfirmed variant (artifact). Exome sequencing reads (top) are represented as horizontal lines (forward reads in blue and reverse reads in green); variant nucleotides are shown in red. Sanger sequencing chromatograms (bottom) are provided.