Table 2. Summary of five candidate variants with a consistent inheritance pattern detected by whole exome sequencing analyses.
| Gene | Accession number | Nucleotide change | AA change | Polyphen2 | Provean | MutationTaster | AF of KRGdb a |
|---|---|---|---|---|---|---|---|
| BRD4 | NM_058243.2 | c.910C>T | p.His304Tyr | Possibly damaging | Deleterious | Disease-causing | 0 |
| HTT | NM_002111.7 | c.1652G>A | p.Gly551Glu | Probably damaging | Neutral | Disease-causing | 0.045 |
| ANPEP | NM_001150.2 | c.694G>A | p.Glu232Lys | Benign | Neutral | Polymorphism | 0 |
| WFS1 | NM_001145853.1 | c.41A>G | p.Gln14Arg | Benign | Neutral | Polymorphism | 0.014 |
| ZNF274 | NM_133502.2 | c.317T>C | p.Met106Thr | Benign | Neutral | Polymorphism | 0 |
a Korean Reference Genome (KRG) project involved whole genome sequencing for 622 Korean individuals
AA: amino acid; AF: allele frequency; KRGdb: Korean Reference Genome database; PolyPhen 2: Polymorphism Phenotyping v2; Provean: Protein Variation Effect Analyzer.