Table 3.

Point Heteroplasmies Detected in 131 Individuals

Position	Individual	Coverage	Major Allele	Frequency	Minor Allele	Frequency	Gene Annotationa
64	Ir28	82	T	0.87	C	0.13	CR
146	Ir17	62	T	0.90	C	0.10	CR
146	G65	186	T	0.80	C	0.20	CR
150b	Arm17	69	C	0.88	T	0.12	CR
152	Ir11	71	T	0.89	C	0.11	CR
195b	G67	67	T	0.90	C	0.10	CR
203	Az5	67	A	0.66	G	0.34	CR
204	Arm17	75	T	0.89	C	0.11	CR
1552	Ir54	69	G	0.87	A	0.13	12S
3014	Az10	44	G	0.86	T	0.14	16S
3492	Arm25	60	A	0.65	C	0.35	NS(ND1; Lys>Asn)
3492	G20	63	A	0.78	C	0.22	NS(ND1; Lys>Asn)
3532	Az14	73	A	0.82	G	0.18	NS(ND1; Thr>Ala)
4991	Az4	173	G	0.65	A	0.35	S(ND2)
5460b	Az7	136	A	0.68	G	0.32	NS(ND2; Thr>Ala)
7754	T186	73	A	0.89	G	0.11	NS(COX2; Asn>Asp)
8152	Az46	80	G	0.88	A	0.13	S(COX2)
8551	Ir30	67	C	0.54	T	0.46	S/NS(ATP6/ATP8)
8743	Ir29	75	G	0.68	A	0.32	NS(ATP6; Val>Met)
10208	Ir10	57	C	0.89	T	0.11	S(ND3)
10427	Az39	68	G	0.85	A	0.15	tRNA-ARG
11253b	G1	68	C	0.76	T	0.24	NS(ND4; Thr>Ile)
11692	G38	72	A	0.76	C	0.24	S(ND4)
11809	G82	72	T	0.78	C	0.22	S(ND4)
12654	Arm37	69	A	0.86	G	0.14	S(ND5)
13368	Arm19	196	G	0.54	A	0.45	S(ND5)
13604	Ir43	68	G	0.90	A	0.10	NS(ND5; Ser>Asn)
14527	G25	66	A	0.89	G	0.11	S(ND6)
14561	T9	63	A	0.78	G	0.22	NS(ND6; Asp>Gly)
14770	Az14	77	T	0.55	C	0.45	S(CYTB)
15046	T186	62	G	0.74	A	0.26	S(CYTB)
15314	Arm20	206	G	0.84	A	0.14	NS(CYTB; Ala>Thr)
16093	Az49	147	C	0.91	T	0.08	CR
16217	T30	65	C	0.91	T	0.09	CR
16223	G73	178	T	0.89	C	0.11	CR
16223	Arm20	190	T	0.89	C	0.11	CR
16362	G67	76	T	0.87	C	0.13	CR

^aThe abbreviations used for gene annotation: CR: control region; 12S: 12S rRNA; 16S: 16S rRNA; S: synonymous; NS: non-synonymous. Gene name is displayed if it happens in the protein-coding genes, and amino acid change is displayed for non-synonymous mutation.

^bDisease-associated positions reported by Mitomap.⁷