Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

Table 2

COQ6 variants in the present study and the pathogenicity prediction analyses.

Genomic position (GRCh37/hg19)	HGVS		In silico prediction			Ethnicity MAF	Global MAF	ClinVar/ACMG guideline
	Nucleotide change	Amino acid change	CADD Phred	REVEL	GERP	KRGDB (1722 individuals)	gnomAD	Classification (criteria)	Reference
14:74420161-74420163	c.189_191delGAA	p.Lys64del	NA	NA	5.37	Absent	0.00001193	Pathogenic	Park et al. [11]
14:74425926	c.782C>T	p.Pro261Leu	33	0.6589	5.55	Absent	0.00006718	Pathogenic	Park et al. [11]
14:74425747	c.686A>C	p.Gln229Pro	27.5	0.698	5.55	Absent	ND	Pathogenic	Park et al. [11]
14:74424852	c.484C>T	p.Arg162	38	0.093	4.39	Absent	ND	Pathogenic	Salviati et al. [5]; Heeringa et al. [4]

Abbreviations: MAF: minor allele frequency; NA: not available; ND: not detected. Refseq transcript accession number NM_182476.3; Refseq protein accession number NP_872282.1. HGVS: Human Genome Variation Society (https://www.hgvs.org/). Sequence Variant Nomenclature (http://varnomen.hgvs.org/). CADD: Combined Annotation Dependent Depletion (https://cadd.gs.washington.edu/); REVEL: Rare Exome Variant Ensemble Learner (https://sites.google.com/site/revelgenomics/); KRGDB: Korean Reference Genome Database (http://coda.nih.go.kr/coda/KRGDB/index.jsp); gnomAD: Genome Aggregation Database (https://gnomad.broadinstitute.org/). ACMG/AMP 2018 guideline (http://wintervar.wglab.org/).