| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422754G>A | CA221234 | BCKDHA | c.979G>A (p.Glu327Lys) c.913G>A (p.Glu305Lys) n.608G>A c.1081G>A (p.Glu361Lys) c.892G>A (p.Glu298Lys) c.922+57G>A (n.922+57G>A) c.976G>A (p.Glu326Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422754G= | CA2336459263 | BCKDHA | c.979G= (p.Glu327=) c.913G= (p.Glu305=) n.608G= c.1081G= (p.Glu361=) c.892G= (p.Glu298=) c.922+57G= (n.922+57G=) c.976G= (p.Glu326=) | dbSNP |
| 19 | g.41422754G>C | CA406013512 | BCKDHA | c.979G>C (p.Glu327Gln) c.913G>C (p.Glu305Gln) n.608G>C c.1081G>C (p.Glu361Gln) c.892G>C (p.Glu298Gln) c.922+57G>C (n.922+57G>C) c.976G>C (p.Glu326Gln) | dbSNP gnomAD v4 |