Table 2.

In-silico characteristics of the detected COQ6 pathogenic variants

Variant (rs ID if applicable)	Exon	Protein change	Conservation	Prevalence in control population [MAF]*	Grantham difference score	Human Splicing Finder 3.0	PolyPhen2 SIFT, CADD Predictors
c.804delC	8	p.Leu269Trpfs*13	Residue conserved, within conserved region	Not reported	n/a	Activation of an exonic cryptic donor site. Creation of an exonic ESS site	n/a
c.1078C > T rs778856227	9	p. Arg360Trp	Residue conserved, within conserved region	Singleton	101	Creation of an exonic ESS site	Deleterious (PolyPhen 1.0; SIFT 0.02, CADD 35)

Reference seq. ENST00000334571; NM_182476.2; UniProt peptide Q9Y2Z9.

Estimation based on data of 60,706 multiethnic individual genomes catalogued by the Exome Aggregation Consortium (ExAC; accessed 28th May 2018)

MAF minor allele frequency, n/a not applicable, ESS exonic splicing silencer