| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32878134C>A | CA384362807 | PKP2 | c.746G>T (p.Ser249Ile) n.87G>T c.700G>T n.750G>T n.599G>T | ClinVar dbSNP |
| 12 | g.32878134C>T | CA384362812 | PKP2 | c.746G>A (p.Ser249Asn) n.87G>A c.700G>A n.750G>A n.599G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |