| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226738G>C | CA379274431 | HBB | c.154C>G (p.Pro52Ala) n.86C>G n.205C>G c.138C>G (p.Leu46=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5226738G>T | CA379274432 | HBB | c.154C>A (p.Pro52Thr) n.86C>A n.205C>A c.138C>A (p.Leu46=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5226738G>A | CA037764 | HBB | c.154C>T (p.Pro52Ser) n.86C>T n.205C>T c.138C>T (p.Leu46=) | ClinVar dbSNP COSMIC |