| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7222203C>T | CA341526 | ACADVL | c.779C>T (p.Thr260Met) c.*734C>T (n.*734C>T) c.713C>T (p.Thr238Met) c.848C>T (p.Thr283Met) n.951C>T c.497C>T n.163C>T c.551C>T (p.Thr184Met) n.886C>T n.838C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7222203C= | CA2245701303 | ACADVL | c.779C= (p.Thr260=) c.*734C= (n.*734C=) c.713C= (p.Thr238=) c.848C= (p.Thr283=) n.951C= c.497C= n.163C= c.551C= (p.Thr184=) n.886C= n.838C= | dbSNP |