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Fig. 3 | Allergy, Asthma & Clinical Immunology

Fig. 3

From: The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations

Fig. 3

CADD vs. MAF plot of STAT3 by PopViz. The horizontal axis shows the MAF scores, and the vertical axis shows the CADD scores. The nine mutations in our patients (G421R, R382W, R382P, R609T, H332N, V637M, F621L, R609S and H437Q) are malignant and highlighted in red. All MAFs are − 7, and the CADD scores are 35, 35, 35, 31, 31, 27, 26.6, 25.8 and 25.6. *Shows the novel mutations in this study. CADD (Combined Annotation Dependent Depletion) score: Ranks genetic variants on the basis of diverse genomic features; MAF: minor allelic frequency in the Genome Aggregation Database (GnomAD)

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