| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7220804_7220813del | CA16043042 | ACADVL | c.316_325del (p.Val106CysfsTer8) c.*271_*280del (n.*271_*280del) c.250_259del (p.Val84CysfsTer8) c.385_394del (p.Val129CysfsTer8) n.393_402del n.524_533del n.267_276del n.497_506del c.202-141_202-132del (n.202-141_202-132del) n.47_56del c.15_24del n.363_372del n.406_415del n.204_213del n.515_524del c.316_325del (p.Val106CysfsTer19) c.88_97del (p.Val30CysfsTer8) n.423_432del n.375_384del | ClinVar dbSNP |
| 17 | g.7220804_7220813dup | CA2635780206 | ACADVL | c.316_325dup (p.Val109GlyfsTer18) c.*271_*280dup (n.*271_*280dup) c.250_259dup (p.Val87GlyfsTer18) c.385_394dup (p.Val132GlyfsTer18) n.393_402dup n.524_533dup n.267_276dup n.497_506dup c.202-141_202-132dup (n.202-141_202-132dup) n.47_56dup c.15_24dup n.363_372dup n.406_415dup n.204_213dup n.515_524dup c.316_325dup (p.Val109GlyfsTer29) c.88_97dup (p.Val33GlyfsTer18) n.423_432dup n.375_384dup | dbSNP gnomAD v4 |