Table 2.

mtDNA variants in a Chinese family with CHD

Gene	Position	Replacement	AA change	Conservation	Previously reported
D-loop	73	A-G			Yes
	143	G-A			Yes
	150	C-T			Yes
	199	T-C			Yes
	204	T-C			Yes
	207	G-A			Yes
	263	A-G			Yes
	310	T-C			Yes
	489	T-C			Yes
	16,129	G-A			Yes
	16,189	T-C			Yes
	16,223	C-T			Yes
	16,248	C-T			Yes
	16,297	T-C			Yes
12SrRNA	750	A-G			Yes
	1438	A-G			Yes
16SrRNA	2706	A-G			Yes
ND1	4071	C-T			Yes
	4164	A-G			Yes
ND2	4679	T-C			Yes
	4769	A-G			Yes
	5351	A-G			Yes
	5460	G-A	Ala331Thr	5.88%	Yes
CO1	6455	C-T			Yes
	6680	T-C			Yes
	7028	C-T			Yes
CO2	7684	T-C			Yes
	7853	G-A	Val90Ile	29.41%	Yes
ATP6	8701	A-G	Thr59Ala	52.94%	Yes
CO3	9540	T-C			Yes
	9824	T-C			Yes
ND3	10,398	A-G	Thr114Ala	41.18%	Yes
	10,400	C-T			Yes
ND4	10,873	T-C			Yes
	11,719	G-A			Yes
ND5	12,405	C-T			Yes
	12,705	C-T			Yes
	12,811	T-C	Tyr159His	64.71%	Yes
Cytb	14,766	C-T	Thr7Ile	47.06%	Yes
	14,783	T-C			Yes
	14,978	A-G	Ile78Val	47.06%	Yes
	15,043	G-A			Yes
	15,301	G-A			Yes
	15,326	A-G	Thr194Ala	52.94%	Yes
tRNAThr	15,910	C-T		100%	No

As presented in online mitochondrial genome databases: www.mitomap.org and www.genpat.uu.se/mtDB