| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15635641C>T | CA278177 | BTD | c.202C>T (p.Gln68Ter) n.1041C>T c.262C>T (p.Gln88Ter) c.268C>T (p.Gln90Ter) n.337C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.15635641C>G | CA2277272 | BTD | c.202C>G (p.Gln68Glu) n.1041C>G c.262C>G (p.Gln88Glu) c.268C>G (p.Gln90Glu) n.337C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15635641C= | CA1347641396 | BTD | c.202C= (p.Gln68=) n.1041C= c.262C= (p.Gln88=) c.268C= (p.Gln90=) n.337C= | dbSNP |