| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68775397A>T | CA344972 | CPT1A | c.1494T>A (p.Tyr498Ter) c.1590T>A (p.Tyr530Ter) | ClinVar dbSNP |
| 11 | g.68775397A>C | CA344975 | CPT1A | c.1494T>G (p.Tyr498Ter) c.1590T>G (p.Tyr530Ter) | dbSNP |
| 11 | g.68775397A>G | CA475189950 | CPT1A | c.1494T>C (p.Tyr498=) c.1590T>C (p.Tyr530=) | ClinVar dbSNP |