| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225679T>C | CA472638452 | HBB | c.363A>G (p.Lys121=) n.295A>G c.*179A>G (n.*179A>G) | ClinVar dbSNP |
| 11 | g.5225679T>G | CA125130 | HBB | c.363A>C (p.Lys121Asn) n.295A>C c.*179A>C (n.*179A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225679T= | CA1949564898 | HBB | c.363A= (p.Lys121=) n.295A= c.*179A= (n.*179A=) | dbSNP |