| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15635614C>T | CA278016 | BTD | c.175C>T (p.Arg59Cys) n.1014C>T c.235C>T (p.Arg79Cys) c.241C>T (p.Arg81Cys) c.175C>T n.561C>T n.310C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15635614C= | CA1347641380 | BTD | c.175C= (p.Arg59=) n.1014C= c.235C= (p.Arg79=) c.241C= (p.Arg81=) c.175C= n.561C= n.310C= | dbSNP |