Table 3.

MtDNA gene variants in our participants.

Gene	Key variants	Other qualifying variants
ATP6	m.8939 T > C: #53 [6 domains]
COX2	m.7673A > G: #20 [6 domains], m.7761A > G: #33 [6 domains]
COX3		m.9738G > A: #14 [1 domain]
CYB	m.15740C > T (94%): #74 [6 domains]	m.15884G > A: #12 [3 domains]
ND1		m.3565A > C: #42 [1 domain]
ND5	m.12706 T>C1: #39 [6 domains]
TA	m.15904C>T2: #19 (39%) [5 domains]
TG		m.10003 T > C: #51 [2 domains]
TM		m.4464A > G: #25 [2 domains]
TR	m.10410 T>A3: #39 [4 domains]
TT	m.15907A>G4: #41 [4 domains]
Multiple	del m.492–14,240 (46%): #73 [5 domains]; 7.7 kb heteroplasmic (proportion not determined) deletion from m.6468–14,148 [6 domains]

Classification of variants (e.g., font color) as per Table 4 and Methods. Domains refer to clinical and laboratory areas meeting clinical correlation for a possible diagnosis of a mitochondrial disorder (see text), with a cutoff of ≥ 4 domains for a Clinical variant.

¹A known disease-causing variant per MitoMap, and Likely Pathogenic per ClinVar.

²Changes a purine to a pyrimidine in a location whereas no mammalian species reported has a pyrimidine (per mitotRNAdb, http://mttrna.bioinf.uni-leipzig.de).

³Adds a Watson-Crick bond in the ACC stem where humans generally lack this binding, yet almost all mammals (to platypus) have such binding (mitotRNAdb).

⁴Loss of Watson-Crick binding in the D-stem. All mammalian species sequenced have Watson-Crick binding at this location (mitotRNAdb).