| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210195326T>G | CA230802 | ACADL | c.997A>C (p.Lys333Gln) n.1225A>C c.934A>C (p.Lys312Gln) c.574A>C (p.Lys192Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.210195326T= | CA1324888878 | ACADL | c.997A= (p.Lys333=) n.1225A= c.934A= (p.Lys312=) c.574A= (p.Lys192=) | dbSNP |