Table 2.
Candidate variants identified from whole-genome sequence data. WGS included 3 affected calves, 10 obligate carriers, and 7 related individuals. Variants were further filtered using WGS data from additional animals.
| Chr | Position (bp) | Reference | Alternative | Variant Annotation | Gene |
|---|---|---|---|---|---|
| 7 | 15413 | C | T | Intergenic | |
| 26 | 10588403 | T | A | Intronic | STAMBPL1 |
| 26 | 10616433 | C | T | Downstream gene variant | STAMBPL1 |
| 26 | 10713132 | G | A | Downstream gene variant | FAS |
| 26 | 10794674 | G | A | Intergenic | |
| 26 | 10982292 | TGAGAGAGGAT | TGAGAGGAT | Intronic | LIPA |
| 26 | 14404993 | T | C | Missense (p.L188P; SIFT = 0, deleterious) | CYP26C1 |
| 26 | 15898152 | C | T | Upstream gene variant | TBC1D12 |