| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68793336G>A | CA381634181 | CPT1A | c.946C>T (p.Arg316Trp) c.202C>T (p.Arg68Trp) c.1042C>T (p.Arg348Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68793336G>C | CA344991 | CPT1A | c.946C>G (p.Arg316Gly) c.202C>G (p.Arg68Gly) c.1042C>G (p.Arg348Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |