| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226734T>C | CA125446 | HBB | c.158A>G (p.Asp53Gly) n.90A>G n.209A>G c.142A>G (p.Met48Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5226734T>G | CA125072 | HBB | c.158A>C (p.Asp53Ala) n.90A>C n.209A>C c.142A>C (p.Met48Leu) | ClinVar dbSNP |
| 11 | g.5226734T>A | CA217114308 | HBB | c.158A>T (p.Asp53Val) n.90A>T n.209A>T c.142A>T (p.Met48Leu) | ClinVar dbSNP |