gnomAD mtDNA variant statistics. (A) Pie charts summarize statistics on mtDNA bases with variants, unique variants, and total variant calls. (B) Bar plot shows the proportion of unique mtDNA variants detected at different population allele frequencies in gnomAD v3.1. (C) Bar chart shows the proportion of variants that are observed only at 10%–95% heteroplasmy (gray) or observed at homoplasmy (blue) including those that are known haplogroup markers in Phylotree (dark blue). (D) Histogram shows number of heteroplasmies per sample (VAF 0.10–0.95). (E) Stacked bar charts show the distribution of variant annotations in the entire mtDNA and for unique variants that are homoplasmic or only observed at heteroplasmy.
