| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5253368T>C | CA124520 | HBG2 | c.353A>G (p.His118Arg) c.188A>G (p.His63Arg) c.315+924A>G (n.315+924A>G) c.323A>G (p.His108Arg) c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5253368T= | CA1949575535 | HBG2 | c.353A= (p.His118=) c.188A= (p.His63=) c.315+924A= (n.315+924A=) c.323A= (p.His108=) c.2T= (p.Met1=) | dbSNP |