| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68773268G>C | CA6152230 | CPT1A | c.1737C>G (p.Tyr579Ter) n.447C>G c.1833C>G (p.Tyr611Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68773268G>T | CA344977 | CPT1A | c.1737C>A (p.Tyr579Ter) n.447C>A c.1833C>A (p.Tyr611Ter) | ClinVar dbSNP |
| 11 | g.68773268G= | CA3182674342 | CPT1A | c.1737C= (p.Tyr579=) n.447C= c.1833C= (p.Tyr611=) | dbSNP |