Table 3. List of CMP and/or mitochondrial disease-associated variants with potential pathogenicity detected in Malaysian CMP patients.

Variant	Gene	Complex	AA change	MITOMAP AF	gnomAD AF	Haplogroup variant	CMP patients
							Frequency, n (%)			Haplogroup
							DCM (N = 87)	HCM (N = 58)	Total (N = 145)
m.1555A>G	MT-RNR1	–	–	0.0002	0.0011	–	0 (0.0)	1 (1.7)	1 (0.7)	E1a2
m.2905A>G	MT-RNR2	–	–	0.0004	0.0004	C7a1d	1 (1.1)	0 (0.0)	1 (0.7)	B5a1b1
m.3202T>C	MT-RNR2	–	–	0.0006	0.0023	A2k	0 (0.0)	1 (1.7)	1 (0.7)	F2d
m.3397A>G	MT-ND1	I	Met → Val	0.0030	0.0015	C5b1a, HV17, M27c, R0a2j, U5b2a4	2 (2.3)	0 (0.0)	2 (1.4)	M26, H13a2a
m.4316A>G	MT-TI	–	–	0.0007	0.0004	–	0 (0.0)	1 (1.7)	1 (0.7)	M17c
m.6340C>T	MT-CO1	IV	Thr → Ile	0.0016	0.0010	–	0 (0.0)	3 (5.2)	3 (2.1)	M7c2, B5a1b1
m.9025G>A	MT-ATP6	V	Gly → Ser	0.0006	0.0008	–	1 (1.1)	0 (0.0)	1 (0.7)	B5a1c
m.9214A>C	MT-CO3	IV	His → Pro	0.0002	0.0000	–	0 (0.0)	1 (1.7)	1 (0.7)	M13c
m.9804G>A	MT-CO3	IV	Ala → Thr	0.0030	0.0036	H5a1g1, H6c	1 (1.1)	0 (0.0)	1 (0.7)	M59
m.9856T>C	MT-CO3	IV	Ile → Thr	0.0003	0.0003	–	0 (0.0)	1 (1.7)	1 (0.7)	R9b1a3
m.10237T>C	MT-ND3	I	Ile → Thr	0.0016	0.0018	H6a1a4, H90, J2a1a1a1, L0d1a1c	1 (1.1)	0 (0.0)	1 (0.7)	M7c1c3
m.11084A>G	MT-ND4	I	Thr → Ala	0.0040	0.0017	A15a, M7a1a, M2a1a1a, M28a2, M52a1b1, J1b4a, C1b13a1, H1bk	0 (0.0)	1 (1.7)	1 (0.7)	B4c1b2a2
m.11087T>C	MT-ND4	I	Phe → Leu	0.0019	0.0010	H1j1b, J1c5f, L0d1b2b1a	0 (0.0)	1 (1.7)	1 (0.7)	M81
m.11361T>C	MT-ND4	I	Met → Thr	0.0004	0.0002	–	1 (1.1)	0 (0.0)	1 (0.7)	M12a1b
m.11778G>A	MT-ND4	I	Arg → His	0.0036	0.0002	T3, X2p1	1 (1.1)	0 (0.0)	1 (0.7)	M59
m.14420C>T	MT-ND6	I	Gly → Glu	0.0002	0.0023	H1h2, U5b1c1a1	0 (0.0)	1 (1.7)	1 (0.7)	G1c2
m.14894T>C	MT-CYB	III	Phe → Leu	0.0002	0.0003	L2a3	0 (0.0)	1 (1.7)	1 (0.7)	U2c1

Note:

AA, amino acid; AF, allele frequency; variant(s) in bold is confirmed pathogenic.