| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422258dup | CA221212 | BCKDHA | c.741dup (p.Ala248CysfsTer10) c.675dup (p.Ala226CysfsTer10) n.370dup c.843dup (p.Ala282CysfsTer10) c.654dup (p.Ala219CysfsTer10) n.369dup | ClinVar dbSNP |
| 19 | g.41422258T= | CA2336459029 | BCKDHA | c.741T= (p.His247=) c.675T= (p.His225=) n.370T= c.843T= (p.His281=) c.654T= (p.His218=) n.369T= | dbSNP dbSNP |