Table 2. Three non-synonymous variants in the critical interval of an affected Border Collie that were absent from 12 other dog genomes.
Position on CFA 2(CanFam 3 assembly) | Reference allele | Variant allele | Gene | Variant (cDNA) | Variant (protein) |
19,125,603 | G | A | MRC1 | c.2143C>T | p.R715* |
19,974,334 | C | – | CUBN | c.8392delC | p.Q2798Rfs*3 |
19,999,374 | G | C | CUBN | c.9215G>C | p.S3072T |