| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68784909G>A | CA344960 | CPT1A | c.1069C>T (p.Arg357Trp) c.1165C>T (p.Arg389Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784909G>T | CA475197707 | CPT1A | c.1069C>A (p.Arg357=) c.1165C>A (p.Arg389=) | dbSNP gnomAD v4 |
| 11 | g.68784909G= | CA2581028853 | CPT1A | c.1069C= (p.Arg357=) c.1165C= (p.Arg389=) | dbSNP |