Fig. 2: Somatic EIF6 mutations identified in SDS.
From: Somatic genetic rescue of a germline ribosome assembly defect
a Percentage of SDS patients carrying somatic EIF6 mutations. b EIF6 mutation count across the 26 SDS patients. c VAF distribution of the 56 identified EIF6 mutations detected by ultra-deep sequencing. d Mutation count in each individual versus age. e Mutational spectrum of the 46 SNVs identified in EIF6. P-value and Pearson correlation are indicated. f Classification of the 56 mutations identified in EIF6. g CADD scores of all the possible SNVs (n = 2214; Supplementary Data 2) in EIF6 coding sequences versus the CADD scores of the 46 SNVs identified in the SDS patients. Red bars correspond to mean values. A two-tailed p-value of the unpaired t-test is indicated.
