Table 4.
Detected variants.
| Case | Gene | AA | Substitution | SIFT | PolyPhen-2 | HGVB | EXAC | |||
|---|---|---|---|---|---|---|---|---|---|---|
| 5 | ACADS | P55L | 164C > T | Heterozygote | Damaging | 0.0 | Probably D | 0.993 | 8/8654 | 3/1346 |
| 6 | CPT2 | F383Y | 1148T > A | Heterozygote | Tolerated | 0.61 | Possibly D | 0.932 | 3/8644 | 1/600 |
| 7 | SLC22A5 | D487N | 1459G > A | Heterozygote | Tolerated | 1.0 | Benign | 0.001 | 0/121,410 | 1/600 |
| 14 | ACADS | V84M | 250G > A | Heterozygote | Damaging | 0.02 | Probably D | 0.997 | 0/6496 | 0/600 |
| 15 | CPT2 | F323fs | 968_969 del TC | Heterozygote | ||||||
| 15 | CPT2 | V605L | 1813G > C | Heterozygote | Damaging | 0.004 | Possibly D | 0.885 | 3/8654 | 1/600 |
W; wild type, M; mutation type, AA; amino acid change, probably D; probably damaging, possibly D; possibly damaging, HGVB; Human Genetic Variation Browser, EXAC; The Exome Aggregation Consortium.