Fig. 2

Lollipop plots showing the location and frequency of PVs in BRCA1, BRCA2, CHEK2 and ATM. The gene model at the bottom of each plot shows exons in alternating shades of gray with untranslated regions thinner. Gene domains or other regions of interest are shown in colors defined by the legend below each gene model. The gene domain or region abbreviations are explained with references in Additional file 2: Table S6. The x-axis shows amino acid residue numbering according to the selected RefSeq protein for each gene. The number of carriers for each unique variant is indicated by the height and size of each lollipop and the inscribed number in the marker. The shape, color and location of the lollipops show the type of variant with structural variants below the gene model (red circle: large deletion, dark blue square: large duplication, green diamond: alu insertion) and other variants above (orange circle: frameshift, cyan circle: stop gain, pale yellow square: missense, purple diamond: intronic or synonymous splice variants, pale green diamond: exonic missense splice variant). Lollipops for variants in introns are placed at the border between adjacent exons. The horizontal bars above the gene model indicate the extent of large deletions (red) and large duplications (dark blue). All structural variants are labeled with a short form alias (the corresponding HGVS descriptions can be found in Additional file 2: Table S1) and the more common of the other variants are labeled with HGVS descriptions. Corresponding lollipop plots for BARD1, BRIP1, CDH1, PALB2, PTEN, RAD51C, RAD51D and TP53 are shown in Additional file 3: Fig. S1