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.