Table 1.

Genomic analysis

Gene	Chr	Nucleic acid(Exon)	amino acid	RS	Pathogenicity (ACMG)	Proband	Father	Mother
COQ8B	chr19:41219990	c.[271C > T](exon 4)	p.(Arg91Cys)	rs75497 5339	Uncertain significance: PP3a	Het	Het	Wild type
	chr19:41209508	c.[737G > A](exon 9)	p.(Ser246Asn)	rs2008 41458	Uncertain significance: PP3b	Het	Wild type	Het
a(sift,Polyphen2_HDIV,Polyphen2_HVAR,PROVEAN,MutationTaster,M- CAP,REVEL,GERP,phyloP20way,phastCons20way)
Population data						Computational and predictive data
Database	dbSNP	1000 Genomes Project	ExAC (East Asia)	ExAC (South Asia)	GnomAD (East Asia)	Polyphen2	SIFT
MAF	Not included	Not included	0.00	0.00	0.00	PROBABLY DAMAGING	Deleterious
b(sift,Polyphen2_HDIV,Polyphen2_HVAR,MutationTaster,M-CAP,GERP,phyloP20way,phastCons20way)
Population data						Computational and predictive data
Database	dbSNP	1000 Genomes Project	ExAC (East Asia)	ExAC (South Asia)	GnomAD (East Asia)	Polyphen2	SIFT
MAF	0.000088	0.0024	0.0013	0.00	0.018	PROBABLY DAMAGING	Deleterious

^a(sift,Polyphen2_HDIV,Polyphen2_HVAR,PROVEAN,MutationTaster,M- CAP,REVEL,GERP,phyloP20way,phastCons20way)

^b(sift,Polyphen2_HDIV,Polyphen2_HVAR,MutationTaster,M-CAP,GERP,phyloP20way,phastCons20way)