| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68780704C>T | CA16042851 | CPT1A | c.1394G>A (p.Gly465Glu) c.1490G>A (p.Gly497Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780704C>A | CA6152313 | CPT1A | c.1394G>T (p.Gly465Val) c.1490G>T (p.Gly497Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780704C= | CA3182836611 | CPT1A | c.1394G= (p.Gly465=) c.1490G= (p.Gly497=) | dbSNP |