| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422361G>A | CA406013072 | BCKDHA | c.844G>A (p.Asp282Asn) c.778G>A (p.Asp260Asn) n.473G>A c.946G>A (p.Asp316Asn) c.757G>A (p.Asp253Asn) n.472G>A | dbSNP gnomAD v4 COSMIC |
| 19 | g.41422361G>C | CA354918 | BCKDHA | c.844G>C (p.Asp282His) c.778G>C (p.Asp260His) n.473G>C c.946G>C (p.Asp316His) c.757G>C (p.Asp253His) n.472G>C | ClinVar dbSNP gnomAD v4 |