Deleterious germ line variants in ATM observed in the study cohort. The upper panel of the plot shows the predicted amino acid substitutions resulting from the determined germ line ATM variants identified in this study. Each rhomb/circle represents a detected pathogenic variant; for frequent variants (n>6), enlarged icons were generated, with the frequency written inside. Numbers in the grey bar denote the respective exon, and numbers below correlate to the amino acid sequence. Exonic variants are depicted by rhombs and black lines, while indels and 5' UTR variants are represented by circles and grey lines. The color codes representing the mutation types are as indicated in the upper right corner of the plot.