Skip to main content

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