Fig. 6

Profiles of variants of each class within selected exemplar DDG2P genes. Locations of variants of each class in UK Biobank individuals, and ClinVar pathogenic/likely pathogenic variants in COL4A3, TP63, ARID1B, NSD1, GATA6, and ODC1 are shown. The top panel of each figure shows a frequency density plot of the relative position of variants of each class in UKB, plus ClinVar pathogenic/likely pathogenic variants. The middle panels show rug plots of the relative positions of each variant of each class in separate panels. The bottom panels show the locations of likely start codons (i.e. in-frame ATG), a diagram of either the relative positions of domains within the protein (for COL4A3, GATA6, ODC1), or a depiction of the exons included in the labelled transcript (TP63, ARID1B, NSD1). The location of the final exon is indicated by the dark bar above the transcript diagram