| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422643G>C | CA9461293 | BCKDHA | c.868G>C (p.Gly290Arg) c.802G>C (p.Gly268Arg) n.497G>C c.970G>C (p.Gly324Arg) c.781G>C (p.Gly261Arg) n.496G>C c.865G>C (p.Gly289Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41422643G>A | CA115508 | BCKDHA | c.868G>A (p.Gly290Arg) c.802G>A (p.Gly268Arg) n.497G>A c.970G>A (p.Gly324Arg) c.781G>A (p.Gly261Arg) n.496G>A c.865G>A (p.Gly289Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |