| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68775398T>C | CA340856 | CPT1A | c.1493A>G (p.Tyr498Cys) c.1589A>G (p.Tyr530Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775398T= | CA3182674344 | CPT1A | c.1493A= (p.Tyr498=) c.1589A= (p.Tyr530=) | dbSNP dbSNP |
| 11 | g.68775398T>G | CA381629950 | CPT1A | c.1493A>C (p.Tyr498Ser) c.1589A>C (p.Tyr530Ser) | dbSNP gnomAD v4 |