| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422739C>T | CA221230 | BCKDHA | c.964C>T (p.Gln322Ter) c.898C>T (p.Gln300Ter) n.593C>T c.1066C>T (p.Gln356Ter) c.877C>T (p.Gln293Ter) c.922+42C>T (n.922+42C>T) c.961C>T (p.Gln321Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422739C= | CA2336459253 | BCKDHA | c.964C= (p.Gln322=) c.898C= (p.Gln300=) n.593C= c.1066C= (p.Gln356=) c.877C= (p.Gln293=) c.922+42C= (n.922+42C=) c.961C= (p.Gln321=) | dbSNP |