Extended Data Fig. 3: An absence of LoF variants in the 5′ coding region of exon 1.
From: Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
a, The rate of editing by HDR as measured by NGS is plotted for each replicate SGE experiment, sampled on day 6 post-transfection. b, Function scores for variants in exon 1 are plotted by genomic position and colored by q value. Positions of the three different SGE regions tiling exon 1 are indicated on the x axis. c, Histograms of function scores colored by mutation consequence are shown for each SGE region. Nonsense variants consistently score lowly across SGE regions, with the exception of the exon 1–5′ region.