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Table 4 Number of candidate variants

From: Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

Gene

SNP ID

Base change

1000 Genome

ExAC

Protein change

SIFT

POLYPhen

Class

AFR

AMR

EAS

EUR

SAS

ETFDH

rs121964954

250G > A

0

0

0.001

0

0

0.00173

Ala84Thr

Deleterious

Damaging

Pathogenic

ETFDH

770A > G

Tyr257Cys

Deleterious

Damaging

VUS

ACOT11

rs139751558

1042C > T

0

0

0.0198

0

0

0.04853

Arg384Trp

Deleterious

Damaging

VUS