Genetic variant screening by WES
| Gene | Variant change | Zygosity | Region | In silico prediction | |||
|---|---|---|---|---|---|---|---|
| cDNA | Amino acid | SIFT | PolyPhen-2 | PROVEAN | |||
| HMGCL | c.649A>G | p.M217V | HOM | Exon 7 | D | D | D |
| c.614C>G | p.T205S | HOM | Exon 7 | D | D | D | |
D: damaging/deleterious/disease-causing; HOM: homozygous; PolyPhen-2: Polymorphism Phenotyping v2; PROVEAN: Protein Variation Effect Analyzer; SIFT: sorting intolerant from tolerant; WES: whole-exome sequencing