| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254429T>C | CA124567 | HBG2 | c.178A>G (p.Lys60Glu) c.13A>G (p.Lys5Glu) c.1724A>G (n.1724A>G) c.148A>G (p.Lys50Glu) c.*47A>G (n.*47A>G) c.177T>C (p.Phe59=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254429T>G | CA124560 | HBG2 | c.178A>C (p.Lys60Gln) c.13A>C (p.Lys5Gln) c.1724A>C (n.1724A>C) c.148A>C (p.Lys50Gln) c.*47A>C (n.*47A>C) c.177T>G (p.Phe59Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |