| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15641939G>T | CA278191 | BTD | c.281G>T (p.Gly94Val) n.1120G>T c.47G>T (p.Gly16Val) c.341G>T (p.Gly114Val) c.347G>T (p.Gly116Val) c.59G>T (p.Gly20Val) n.416G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15641939G= | CA1347644794 | BTD | c.281G= (p.Gly94=) n.1120G= c.47G= (p.Gly16=) c.341G= (p.Gly114=) c.347G= (p.Gly116=) c.59G= (p.Gly20=) n.416G= | dbSNP |