| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7222669G>A | CA312257 | ACADVL | c.881G>A (p.Gly294Glu) c.*836G>A (n.*836G>A) c.815G>A (p.Gly272Glu) c.950G>A (p.Gly317Glu) n.30G>A c.599G>A n.265G>A c.653G>A (p.Gly218Glu) n.988G>A n.940G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7222669G= | CA2245709141 | ACADVL | c.881G= (p.Gly294=) c.*836G= (n.*836G=) c.815G= (p.Gly272=) c.950G= (p.Gly317=) n.30G= c.599G= n.265G= c.653G= (p.Gly218=) n.988G= n.940G= | dbSNP |