| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226725A>G | CA379273911 | HBB | c.167T>C (p.Met56Thr) n.99T>C n.218T>C c.151T>C (p.Trp51Arg) | ClinVar dbSNP |
| 11 | g.5226725A>T | CA125022 | HBB | c.167T>A (p.Met56Lys) n.99T>A n.218T>A c.151T>A (p.Trp51Arg) | ClinVar dbSNP |
| 11 | g.5226725A= | CA1949568887 | HBB | c.167T= (p.Met56=) n.99T= n.218T= c.151T= (p.Trp51=) | dbSNP |