Table 2.
Variants identified in 99 Lives whole genome sequence dataset considering segregation within the trio.
| Chr:Pos | Ref/Alt | No. Het * | No. Homo | Gene Name | Sequence Ontology | Effect | HGVS c. (Clinically Relevant) |
|---|---|---|---|---|---|---|---|
| A3:127002233 | GCGCGGC/- | 2 | 1 | GDF7 | frameshift | LoF | ENSFCAT00000063603: c.221_227delGCCGCGC |
| C1:96095693 | C/T | 2 | 1 | intergenic | Other | ||
| C1:96839645 | C/T | 2 | 1 | intergenic | Other | ||
| D2:33368378 | C/A | 2 | 1 | intergenic | Other | ||
| C1:106990675 | C/A | 1 | 2 | intergenic | Other | ||
| E1:9973078 | C/T | 1 | 2 | SPECC1 | Intron | Other | ENSFCAT00000005195: c.2850 + 13572G > A |
* Only the dam should be heterozygous for the variant in the dataset and the sire and offspring homozygous for the variant. Sequence data was poor within the critical region on cat Chromosome A3, and the affected offspring was erroneously considered heterozygous by the Genome Analysis Tool Kit (GATK version 3.8). Four variants are identified when the offspring is considered heterozygous.