| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225689T>C | CA342868 | HBB | c.353A>G (p.His118Arg) n.285A>G c.*169A>G (n.*169A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225689T>G | CA217112687 | HBB | c.353A>C (p.His118Pro) n.285A>C c.*169A>C (n.*169A>C) | dbSNP |
| 11 | g.5225689T= | CA1949564995 | HBB | c.353A= (p.His118=) n.285A= c.*169A= (n.*169A=) | dbSNP |