| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.53210312A>C | CA340393017 | CPT2 | c.638A>C (p.Asp213Ala) c.*624A>C (n.*624A>C) c.*285A>C (n.*285A>C) c.341-2952A>C (n.341-2952A>C) n.2838A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.53210312A>G | CA254615 | CPT2 | c.638A>G (p.Asp213Gly) c.*624A>G (n.*624A>G) c.*285A>G (n.*285A>G) c.341-2952A>G (n.341-2952A>G) n.2838A>G | ClinVar dbSNP |