| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7222679del | CA16041863 | ACADVL | c.891del (p.Lys298ArgfsTer?) c.*846del (n.*846del) c.825del (p.Lys276ArgfsTer?) c.960del (p.Lys321ArgfsTer?) n.40del c.609del n.275del c.663del (p.Lys222ArgfsTer?) n.998del n.950del | ClinVar dbSNP |
| 17 | g.7222679G= | CA2245709219 | ACADVL | c.891G= (p.Glu297=) c.*846G= (n.*846G=) c.825G= (p.Glu275=) c.960G= (p.Glu320=) n.40G= c.609G= n.275G= c.663G= (p.Glu221=) n.998G= n.950G= | dbSNP dbSNP |