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Table 2 The predictions for COG1 mutations using various software

From: Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review

Software c.1070 + 3A > G (splicing) c.2492G > A (p.Arg831Gln)
VarSome Likely Benign Uncertain significance
DANN Score:0.8675 Score:0.9912
dbscSNV ADA Score:0.001334 N/A
Mutation Taster N/A Disease-causing
Mutation assessor N/A Medium
FATHMM-MKL N/A Damaging
LRT N/A Deleterious
DEOGEN2 N/A Tolerated
EIGEN N/A Pathogenic
EIGEN PC N/A Pathogenic
SIFT N/A Damaging
SIFT4G N/A Damaging
  1. c. 1070 + 3A > G, the nucleotide of 1070 + 3 in the coding region was mutated from adenine to guanine; c.2492G > A, the nucleotide of 2492 in the coding region was mutated from guanine to adenine; p.Arg831Gln, amino acid 831 changed from arginine to glutamine