Fig. 3

Sanger sequencing electropherogram of GATA6 exon 2 showing the heterozygous C > G single base substitution at nucleotide position 705 (c.705C > G) resulting the nonsense variant (p.Tyr235Ter) in the proband. The variant is absent in electropherograms from mother and father. Sanger sequencing is able to detect low level somatic mosaicism to a level of approximately 5–10%