Fig. 2

Distribution of reported PMS2 missense variants across exons, stratified depending on ACMG 2015 classification. Red (P/LP – pathogenic/likely pathogenic variants), green (B/LB – benign/likely benign variants), orange (Conflicting variants), yellow (VUS – variants of uncertain significance). Each bar signifies the calculated density of variants, depending on the exon length and total number of reported variants