Fig. 2

Identification of a splicing variant in the IL7R gene. A Whole-exome sequencing (WES) identified the homozygous variant c.221 + 1G > A in IL7R gene (NM_002185.5) in the proband viewed on Integrative Genomics Viewer. Her mother is a carrier of the variant. B Sanger sequencing confirmed a homozygous splicing variant c.221 + 1G > A in the proband. Her mother is a heterozygous variant carrier. Both her father and sister are homozygous for the wild-type allele. The variation site is marked by a red arrow