| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254440A>C | CA124512 | HBG2 | c.167T>G (p.Met56Arg) c.2T>G (p.Met1Arg) c.1713T>G (n.1713T>G) c.137T>G (p.Met46Arg) c.*36T>G (n.*36T>G) c.188A>C (p.His63Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5254440A>G | CA379264459 | HBG2 | c.167T>C (p.Met56Thr) c.2T>C (p.Met1Thr) c.1713T>C (n.1713T>C) c.137T>C (p.Met46Thr) c.*36T>C (n.*36T>C) c.188A>G (p.His63Arg) | dbSNP gnomAD v4 |