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. 2022 May 5;24(8):1653–1663. doi: 10.1016/j.gim.2022.04.007

Figure 2.

Figure 2

Percentage of QVs in complement genes and C3 levels and INR of asymptomatic subjects harboring QVs in significant genes. Percentage-expressed frequency of QVs (dark and light brown) and synonymous rare variants (minor allele frequency ≤ 0.01) (syn, dark and light green) of the asymptomatic and gnomAD cohorts in complement activator (A) and regulator (B) genes. Stars above the bars denote significantly QVs-enriched genes (∗ indicates FDR < 0.05; ∗∗ indicates FDR < 0.005; ∗∗∗ indicates FDR < 0.0005); percentage-expressed frequency of QVs (C) and synonymous rare variants (D) in the asymptomatic and hospitalized cohorts (∗P < .1). E. (from left to right) Box plots showing the distribution of CH50, AH50, C3, and MASP1 serum levels, along with prothrombin time, expressed either as percentage activity or international normalized ratio (INR), in a set of asymptomatic individuals harboring heterozygous QVs in MASP1 (n = 5), COLEC11 (n = 3), and COLEC10 (n = 4) (QVs group, light brown) and without any QV in these genes (n = 24) (non-QVs group, green). gnomAD, Genome Aggregation Database; INR, international normalized ratio; QV, qualifying variant; syn, synonymous.