case_images: PMC8215559_01
case_images: Chromatogram from Sanger sequencing for the c.5612T>A variant using forward primer (top) and reverse primer (bottom).. Shown is the wildtype T allele with a small peak for the variant allele A (rectangular box).
case_images: f1000research-10-58085-g0000.jpg
case_images: PMC8215559_01_f1000research-10-58085-g0000.jpg
case_images: f1
case_images: The peak height of the variant was approximately one-quarter to one-third that of the wild-type for both forward and reverse primers, confirming the mosaicism ( Figure 1).