| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226720T>G | CA217114242 | HBB | c.172A>C (p.Asn58His) n.104A>C n.223A>C c.156A>C (p.Ala52=) | dbSNP |
| 11 | g.5226720T>C | CA124947 | HBB | c.172A>G (p.Asn58Asp) n.104A>G n.223A>G c.156A>G (p.Ala52=) | ClinVar dbSNP |
| 11 | g.5226720T= | CA1949568821 | HBB | c.172A= (p.Asn58=) n.104A= n.223A= c.156A= (p.Ala52=) | dbSNP |