| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424584C>A | CA221187 | BCKDHA | c.1314C>A (p.Tyr438Ter) c.1323C>A (p.Tyr441Ter) c.1416C>A (p.Tyr472Ter) c.144C>A c.922+1887C>A (n.922+1887C>A) c.1311C>A (p.Tyr437Ter) | ClinVar dbSNP |
| 19 | g.41424584C>T | CA507560737 | BCKDHA | c.1314C>T (p.Tyr438=) c.1323C>T (p.Tyr441=) c.1416C>T (p.Tyr472=) c.144C>T c.922+1887C>T (n.922+1887C>T) c.1311C>T (p.Tyr437=) | ClinVar dbSNP gnomAD v4 |