case_images: PMC6529843_01
case_images: The figure displays the heterozygous sequence variant c.2026delT (p.Cys676AlafsTer67) in exon 16 identified and confirmed by Sanger sequencing in the upper part and the wild type sequence at the bottom.
case_images: fped-07-00199-g0001.jpg
case_images: PMC6529843_01_fped-07-00199-g0001.jpg
case_images: F1
case_images: The heterozygous sequence variant c.2026delT; p.Cys676AlafsTer67 in exon 16 was identified and confirmed using Sanger sequencing (Figure 1), also because the coverage in exon 16 was very low (<30 x).