| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422704C>T | CA406013416 | BCKDHA | c.929C>T (p.Thr310Ile) c.863C>T (p.Thr288Ile) n.558C>T c.1031C>T (p.Thr344Ile) c.842C>T (p.Thr281Ile) n.557C>T c.922+7C>T (n.922+7C>T) c.926C>T (p.Thr309Ile) | dbSNP gnomAD v4 |
| 19 | g.41422704C>G | CA115518 | BCKDHA | c.929C>G (p.Thr310Arg) c.863C>G (p.Thr288Arg) n.558C>G c.1031C>G (p.Thr344Arg) c.842C>G (p.Thr281Arg) n.557C>G c.922+7C>G (n.922+7C>G) c.926C>G (p.Thr309Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |