| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68780662G>A | CA221853 | CPT1A | c.1436C>T (p.Pro479Leu) c.1532C>T (p.Pro511Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780662G>C | CA381630714 | CPT1A | c.1436C>G (p.Pro479Arg) c.1532C>G (p.Pro511Arg) | dbSNP |
| 11 | g.68780662G= | CA2580600325 | CPT1A | c.1436C= (p.Pro479=) c.1532C= (p.Pro511=) | dbSNP |