| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422634C>T | CA9461290 | BCKDHA | c.859C>T (p.Arg287Ter) c.793C>T (p.Arg265Ter) n.488C>T c.961C>T (p.Arg321Ter) c.772C>T (p.Arg258Ter) n.487C>T c.856C>T (p.Arg286Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422634C>G | CA9461289 | BCKDHA | c.859C>G (p.Arg287Gly) c.793C>G (p.Arg265Gly) n.488C>G c.961C>G (p.Arg321Gly) c.772C>G (p.Arg258Gly) n.487C>G c.856C>G (p.Arg286Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |