| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68780705C>T | CA6152314 | CPT1A | c.1393G>A (p.Gly465Arg) c.1489G>A (p.Gly497Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780705C>A | CA344965 | CPT1A | c.1393G>T (p.Gly465Trp) c.1489G>T (p.Gly497Trp) | ClinVar dbSNP |
| 11 | g.68780705C= | CA3182674346 | CPT1A | c.1393G= (p.Gly465=) c.1489G= (p.Gly497=) | dbSNP |