Fig. 2

a Chromatograms of ATM sequence in the proband (top), the patient’s father (middle), and the patient’s mother (bottom) showing an SNV of c.742C > T (p.Arg248Ter) from the father. b Analysis of the next-generation sequencing data using VisCap c. SNP array analysis of the chromosome from the proband (top), the patient’s mother (middle), and the patient’s father (bottom) showing a novel CNV by the deletion of exons 24–40 from the mother. SNV single-nucleotide variation, SNP single-nucleotide polymorphism, CNV copy number variation