| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422370G>C | CA221220 | BCKDHA | c.853G>C (p.Ala285Pro) c.787G>C (p.Ala263Pro) n.482G>C c.955G>C (p.Ala319Pro) c.766G>C (p.Ala256Pro) n.481G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422370G= | CA2336459081 | BCKDHA | c.853G= (p.Ala285=) c.787G= (p.Ala263=) n.482G= c.955G= (p.Ala319=) c.766G= (p.Ala256=) n.481G= | dbSNP |
| 19 | g.41422370G>T | CA406013099 | BCKDHA | c.853G>T (p.Ala285Ser) c.787G>T (p.Ala263Ser) n.482G>T c.955G>T (p.Ala319Ser) c.766G>T (p.Ala256Ser) n.481G>T | ClinVar dbSNP gnomAD v4 |