| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5253366A>G | CA124572 | HBG2 | c.355T>C (p.Phe119Leu) c.190T>C (p.Phe64Leu) c.315+926T>C (n.315+926T>C) c.325T>C (p.Phe109Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5253366A= | CA1949575528 | HBG2 | c.355T= (p.Phe119=) c.190T= (p.Phe64=) c.315+926T= (n.315+926T=) c.325T= (p.Phe109=) | dbSNP |
| 11 | g.5253366A>C | CA379263638 | HBG2 | c.355T>G (p.Phe119Val) c.190T>G (p.Phe64Val) c.315+926T>G (n.315+926T>G) c.325T>G (p.Phe109Val) | dbSNP gnomAD v4 |