| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68780734T>G | CA274426 | CPT1A | c.1364A>C (p.Lys455Thr) c.1460A>C (p.Lys487Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780734T>C | CA381630879 | CPT1A | c.1364A>G (p.Lys455Arg) c.1460A>G (p.Lys487Arg) | dbSNP gnomAD v4 |
| 11 | g.68780734T= | CA3182709433 | CPT1A | c.1364A= (p.Lys455=) c.1460A= (p.Lys487=) | dbSNP |