Table 3 Analysis of the four variants identified in our cohort

From: Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Variant

gnomAD population frequency

Reported to be disease causing?

CADD

REVEL

ddG

c.370G>A, p.(Gly124Ser)

1.13e−04

Yes (Lu et al.6)

24.8

0.817

−1.19

c.402+1G>C

2.79e−05

Yes (ClinVar)

28.8

N/A

N/A

c.371G>T, p.(Gly124Val)

3.98e−06

No

24.6

0.753

−1.53

c.550T>C, p.(Trp184Arg)

0

No

26.7

0.538

−0.62

  1. CADD Combined Annotation-Dependent Depletion, REVEL Rare Exome Variant Ensemble Learner, N/A not available
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