| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422715C>T | CA354952 | BCKDHA | c.940C>T (p.Arg314Ter) c.874C>T (p.Arg292Ter) n.569C>T c.1042C>T (p.Arg348Ter) c.853C>T (p.Arg285Ter) n.568C>T c.922+18C>T (n.922+18C>T) c.937C>T (p.Arg313Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422715C>A | CA9461305 | BCKDHA | c.940C>A (p.Arg314=) c.874C>A (p.Arg292=) n.569C>A c.1042C>A (p.Arg348=) c.853C>A (p.Arg285=) n.568C>A c.922+18C>A (n.922+18C>A) c.937C>A (p.Arg313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |