| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15635591T>C | CA278161 | BTD | c.152T>C (p.Leu51Pro) n.991T>C c.212T>C (p.Leu71Pro) c.218T>C (p.Leu73Pro) n.538T>C n.287T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15635591T= | CA1347641364 | BTD | c.152T= (p.Leu51=) n.991T= c.212T= (p.Leu71=) c.218T= (p.Leu73=) n.538T= n.287T= | dbSNP |