Table 2.

Point heteroplasmies (PHPs) detected within the mtDNA coding region in 9 out of total 11 individuals. Two individuals’ samples do not exhibit PHPs in the coding region

Age at sampling	Individual	Position	Substitution rate [46]	Mitochondrial (MT) locus [45]	Mutation*	Major allele	Minor allele	MAF Buccal	MAF Blood	PolyPhen-2 prediction [50]
48	MW-0080	3586	/	MT-ND1	NS	C	T	3.6%	0	BENIGN
42	MW-0020	7348	/	MT-CO1	NS	T	C	0.6%	0.8%	BENIGN
38	MW-0067	8034	/	MT-CO2	NS	T	C	0.5%	0.8%	BENIGN
42	MW-0020	9325	2	MT-CO3	NS	T	C	6.3%	3.6%	BENIGN
37	MW-0073	15731	3	MT-CYB	NS	G	A	0.2%	0	BENIGN
38	MW-0026	9164	/	MT-ATP8	NS	T	C	0	0.3%	PROBABLY DAMAGING
42	MW-0020	9622	/	MT-CO3	NS	C	T	0	0.1%	PROBABLY DAMAGING
41	MW-0065	9774	/	MT-CO3	NS	G	A	0.3%	0	PROBABLY DAMAGING
37	MW-0012	9987	/	MT-CO3	NS	T	C	0	0.8%	PROBABLY DAMAGING
41	MW-0065	11634	/	MT-ND4	NS	G	A	0	0.4%	PROBABLY DAMAGING
41	MW-0065	14898	/	MT-CYB	NS	T	C	0.4%	0	PROBABLY DAMAGING
41	MW-0065	6179	3	MT-CO1	S	G	A	1.0%	3.9%
58	MW-0087	8955	1	MT-ATP7	S	T	C	3.2%	2.0%
38	MW-0026	9740	1	MT-CO3	S	C	T	20.7%	17.5%
38	MW-0026	11887	3	MT-ND4	S	G	A	0	0.3%
38	MW-0067	14020	4	MT-ND5	S	T	C	0.4%	0
38	MW-0026	14539	/	MT-ND6	S	A	G	27.7%	25.5%
38	MW-0026	14560	12	MT-ND6	S	G	A	0	0.4%
37	MW-0073	15343	/	MT-CYB	S	C	T	0.1%	0

*mutation types: S = synonymous; NS = non-synonymous