Fig. 2.

Sanger sequencing and ddPCR results for family 14 with paternal mosaic CHD7 variant. a Sanger sequencing showed ambiguous small peak for father’s semen at variant position (black rectangle in bold). b Gel electrophoresis with and without BDA. Noted bands with BDA are lighter than that without BDA, demonstrating the suppression of wildtype allele. c Sanger sequencing confirmed rare allele T enriched after BDA. d DdPCR confirmed paternal gonadal mosaicism with a VAF of 14.32%