| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.60546093G>A | CA347040747 | BCL11A | c.263C>T (p.Ser88Leu) c.257C>T (p.Ser86Leu) c.191C>T (p.Ser64Leu) c.248C>T (p.Ser83Leu) n.302C>T n.347C>T c.167C>T (p.Ser56Leu) c.109C>T n.88C>T c.107C>T (p.Ser36Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.60546093G>T | CA16604244 | BCL11A | c.263C>A (p.Ser88Ter) c.257C>A (p.Ser86Ter) c.191C>A (p.Ser64Ter) c.248C>A (p.Ser83Ter) n.302C>A n.347C>A c.167C>A (p.Ser56Ter) c.109C>A n.88C>A c.107C>A (p.Ser36Ter) | ClinVar dbSNP |