Fig. 5
From: Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome
Joint analysis of germline and tumor mutations. A Patterns of germline and somatic mutations among LS genes, among germline carriers of MSH2 missense variants, separated into those scored as functionally neutral (top) or deleterious (bottom) by deep mutational scanning LoF score. B Fraction of individuals with a somatic P/LP mutation in MSH2, by MSH2 germline missense functional status. C Tumor microsatellite status, by MSH2 germline missense variant functional status. ***, P<0.001; **, P<0.01