Figure 2. Schematic diagram of the analysis workflow.

The flowchart demonstrates the criteria used to select variants that were Sanger sequencing confirmed. In essence, selected variants that had >20× coverage, a low allele frequency, and nonsynonymous changes were Sanger confirmed if they were listed on HGMD, frameshift, or nonsense changes. In addition, interesting variants with a coverage <20× were also confirmed (Table 7).