Table 1.

Identified ATPase gene variants

Patient	Gene; Encoded protein	RefSeq annotations	Variants(s) (cDNA, protein)	Zygosity	In-silico pathogenicity predictions (CADD; PolyPhen2; SIFT)	ACMG classification (pathogenic/likely pathogenic)
1	ATP5F1E; ATP synthase subunit epsilon, mitochondrial	NM_006886.4; NP_008817.1	c.35A>G, p.Tyr12Cys	homozygous	26.1; 1.0 (probably damaging); 0	PS3, PS4_moderate, PM2, PP3
2			c.35A>G, p.Tyr12Cys	homozygous	26.1; 1.0 (probably damaging); 0	PS3, PS4_moderate, PM2, PP3
3			c.35A>G, p.Tyr12Cys	homozygous	26.1; 1.0 (probably damaging); 0	PS3, PS4_moderate, PM2, PP3
4	ATP5PO; ATP synthase subunit O, mitochondrial	NM_001697.3; NP_001688.1	c.34C>T, p.Gln12*; c.329-20A>G	compound heterozygous	c.34C>T: 36; N/A; 0.97; c.329-20A>G: 2.323; N/A; N/A	PS3, PM2
5	ATP5F1A; ATP synthase subunit alpha, mitochondrial	NM_004046.6; NP_004037.1	c.620G>A, p.Arg207His	heterozygous, de novo	35; 0.999 (probably damaging); 0.01	PS2, PS3, PM2, PP3
6			c.545G>A, p.Arg182Gln	heterozygous, de novo	34; 0.692 (possibly damaging); 0.01	PS2, PM2, PP3
7			c.1037C>T, p.Ser346Phe	heterozygous, de novo	32; 1.0 (probably damaging); 0	PS2, PM2, PP3
8	ATP5MC3; ATP synthase F(0) complex subunit C3, mitochondrial	NM_001689.5; NP_001680.1	c.318C>G, p.Asn106Lys	heterozygous, de novo	26.1; 1.0 (probably damaging); 0	PS2, PS3, PS4_moderate, PM2, PP3
9			c.319C>G, p.Pro107Ala	heterozygous, de novo	24.1; 0.931 (probably damaging); 0	PM2, PM6, PP2, PP3
10			c.236G>T, p.Gly79Val	heterozygous, de novo	34; 0.907 (possibly damaging); 0	PS2, PS3, PM2, PP3