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. Author manuscript; available in PMC: 2018 Jan 3.
Published in final edited form as: Cell Rep. 2017 Dec 26;21(13):3754–3766. doi: 10.1016/j.celrep.2017.11.106

Figure 6. The relationship between alternate allele frequency and disease phenotype is evident for both individual mutant alleles and overall identified mutations.

Figure 6

After performing a literature review to identify all reported mutations associated with FCD and HME and their average AAFs, we identified individual mutant alleles associated with both FCD and HME. Due to the small number of cases associated with each mutant allele, p values were not calculated for individual alleles. Overall, the average AAF for somatic mutations associated with FCD is significantly lower than the average AAF for somatic mutations associated with HME (p<0.0001, two-tailed t test). See also Table S6.