| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41414143A>C | CA354926 | BCKDHA | c.470A>C (p.Gln157Pro) c.404A>C (p.Gln135Pro) n.596A>C c.572A>C (p.Gln191Pro) c.277A>C c.383A>C (p.Gln128Pro) | ClinVar dbSNP |
| 19 | g.41414143A= | CA2336455368 | BCKDHA | c.470A= (p.Gln157=) c.404A= (p.Gln135=) n.596A= c.572A= (p.Gln191=) c.277A= c.383A= (p.Gln128=) | dbSNP |