| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225717T>G | CA5839701 | HBB | c.325A>C (p.Asn109His) n.257A>C c.*141A>C (n.*141A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225717T>C | CA125247 | HBB | c.325A>G (p.Asn109Asp) n.257A>G c.*141A>G (n.*141A>G) | ClinVar dbSNP |
| 11 | g.5225717T= | CA1949565245 | HBB | c.325A= (p.Asn109=) n.257A= c.*141A= (n.*141A=) | dbSNP |