Table 1.
Genotyping results for eight Australian Cavalier King Charles Spaniels for four risk variants and predictive markers at the NEBL1-3 & HDGFL1 cardiac risk genes.
| Gene Region | Variant | Consequence (Axelsson et al. [1] for Risk Variants) | Position (canFam3.1) | Reference Allele (canFam3) | Alternate Allele | Genotype | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 3256 | 3261 | 3262 | 3333 | 3334 | 3336 | 80271 | 80294 | ||||||
| Nebulette | NEBL1 risk variant | Regulation | chr2:11 816 535 | A | G | A/G | G/G | G/G | A/G | A/G | G/G | A/G | A/G |
| Nebulette | New variant | Discovery | chr2:11 816 545 | G | A | A/G | G/G | G/G | A/G | A/G | G/G | A/G | A/G |
| Nebulette | NEBL1 predictive marker | Array marker | chr2:11 822 980 | A | G | A/G | G/G | G/G | A/G | A/G | G/G | A/G | A/G |
| Nebulette | NEBL2 risk variant | Regulation | chr2:11 823 576 | C | T | - | - | - | C/T | C/T | - | C/T | C/T |
| Nebulette | NEBL2 predictive marker | Array marker | chr2:11 832 538 | G | A | G/A | A/A | A/A | G/A | G/A | A/A | G/A | G/A |
| Nebulette | New variant | Discovery | chr2:11 979 669 | G | T | T/G | T/T | T/T | T/G | T/G | T/T | T/G | T/G |
| Nebulette | NEBL3 risk variant (and predictive marker) | Candidate mutation | chr2:11 979 724 | G | A | G/A | A/A | A/A | G/A | G/A | A/A | G/A | G/A |
| Hepatoma Derived Growth Factor-Like 1 | HDGFL1 risk variant | Candidate mutation | chr7:41 245 057 | A | G | G/A | G/A | A/A | G/G | G/G | G/A | G/G | G/G |
| Hepatoma Derived Growth Factor-Like 1 | HDGFL1 predictive marker | Array marker | chr7:41 248 384 | T | G | G/T | G/T | G/G | T/T | T/T | G/T | T/T | T/T |
These dogs were sequenced at this gene location but had indels close to the variant site causing poor signal strength.