| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7220945A>G | CA16603209 | ACADVL | c.364A>G (p.Asn122Asp) c.*319A>G (n.*319A>G) c.298A>G (p.Asn100Asp) c.433A>G (p.Asn145Asp) n.441A>G n.572A>G n.293+115A>G n.545A>G c.202A>G (p.Asn68Asp) n.95A>G c.63A>G n.411A>G n.547A>G n.345A>G c.397A>G (p.Asn133Asp) c.136A>G (p.Asn46Asp) n.471A>G n.423A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7220945A= | CA2245699181 | ACADVL | c.364A= (p.Asn122=) c.*319A= (n.*319A=) c.298A= (p.Asn100=) c.433A= (p.Asn145=) n.441A= n.572A= n.293+115A= n.545A= c.202A= (p.Asn68=) n.95A= c.63A= n.411A= n.547A= n.345A= c.397A= (p.Asn133=) c.136A= (p.Asn46=) n.471A= n.423A= | dbSNP |