Figure 2. Schematic representation of CHEK2 variants found in our cohort
Color code: dark red: pathogenic; red: likely pathogenic; pink: established risk allele; yellow: variant of uncertain significance. Shape code: diamond: nonsense variants; triangle: frameshift variants; square: splicing variants; circle: missense variants; star: copy number variants. Solid horizontal lines correspond to a copy number variant, each found in 1 index case.