| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68773294G>C | CA381628527 | CPT1A | c.1711C>G (p.Gln571Glu) n.421C>G c.1807C>G (p.Gln603Glu) | dbSNP |
| 11 | g.68773294G>A | CA16041535 | CPT1A | c.1711C>T (p.Gln571Ter) n.421C>T c.1807C>T (p.Gln603Ter) | ClinVar dbSNP gnomAD v4 |