| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422680A>C | CA221224 | BCKDHA | c.905A>C (p.Asp302Ala) c.839A>C (p.Asp280Ala) n.534A>C c.1007A>C (p.Asp336Ala) c.818A>C (p.Asp273Ala) n.533A>C c.902A>C (p.Asp301Ala) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422680A>G | CA406013367 | BCKDHA | c.905A>G (p.Asp302Gly) c.839A>G (p.Asp280Gly) n.534A>G c.1007A>G (p.Asp336Gly) c.818A>G (p.Asp273Gly) n.533A>G c.902A>G (p.Asp301Gly) | ClinVar dbSNP |
| 19 | g.41422680A= | CA2336459221 | BCKDHA | c.905A= (p.Asp302=) c.839A= (p.Asp280=) n.534A= c.1007A= (p.Asp336=) c.818A= (p.Asp273=) n.533A= c.902A= (p.Asp301=) | dbSNP |