Fig. 4
From: Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
ES, Sanger and ddPCR results for family 18 with maternal mosaic EBF3 variant. a IGV showing location of the EBF3 variant in NM_001005463:c.488G > A p.(Arg163Gln) with a red arrow. Maternal mosaicism was initially suspected. b Sanger sequencing showed ambiguous small peak for mother at variant position (highlighted in blue). c DdPCR confirmed maternal gonosomal mosaicism with 29.6% of the variant allele detected in the buccal sample and 18.4% of the variant allele detected in blood