Figure S1.
The diagram shows the CTLA4 mutation in the patient, parents, and paternal grandfather. The patient has a homozygous variant, indicated by a consistent sequence of C's. The mother and father each carry a heterozygous variant, shown by a mix of T's and C's. The paternal grandfather has a homozygous T/T variant. The sequence data is aligned horizontally, with each individual's data displayed in separate rows. The mutation site is highlighted with different colors to indicate the variants.
WGS data viewed in IGV showing the CTLA4 mutation in the patient, parents, and grandfather. The homozygous variant is present in the patient, whereas the parents carry the heterozygous variant. IGV, Integrative Genomics Viewer.