| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424582T>C | CA406015686 | BCKDHA | c.1312T>C (p.Tyr438His) c.1321T>C (p.Tyr441His) c.1414T>C (p.Tyr472His) c.142T>C c.922+1885T>C (n.922+1885T>C) c.1309T>C (p.Tyr437His) | ClinVar dbSNP |
| 19 | g.41424582T>A | CA115507 | BCKDHA | c.1312T>A (p.Tyr438Asn) c.1321T>A (p.Tyr441Asn) c.1414T>A (p.Tyr472Asn) c.142T>A c.922+1885T>A (n.922+1885T>A) c.1309T>A (p.Tyr437Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |