Private coding region mutations observed in the entire mtDNA genomes of the patients (see Figure 1) that are “novel” or are recorded in MITOMAP as (confirmed or unconfirmed) disease-associated variants.

NOTE.1Starst identified samples carrying nDNA mutations;2Mutations defining haplogroup(s) according to Phylotree and the data obtained here; “novel” means a variant that was not found in Phylotree [36], mtDB [62], HmtDB [63], and Google searches as executed in [20], [22];3The ‘novel’ condition is as indicated in MITOMAP;4Note that m.4796C>T and m.12103C>A were reported by Gasparre et al. [64] as novel changes in oncocytoma and CCRCC, m.4796C>T pop-up in HmtDB as reported by Porcelli et al. [65], although this variant does not appear in the original publication, and m.10081T>C appears in Zheng et al. [66] but as generated by human pol γ in vitro;5m.11778G>A is a well-confirmed mutation responsible for LHON and progressive dystonia, and, it fact, this pathogenic mutation appeared in a NS patient who also suffered from LHON (see Figure 1, #40); aa: amino acid.