| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225681T>C | CA124900 | HBB | c.361A>G (p.Lys121Glu) n.293A>G c.*177A>G (n.*177A>G) | ClinVar dbSNP |
| 11 | g.5225681T>G | CA125199 | HBB | c.361A>C (p.Lys121Gln) n.293A>C c.*177A>C (n.*177A>C) | ClinVar dbSNP COSMIC |
| 11 | g.5225681T= | CA1949564921 | HBB | c.361A= (p.Lys121=) n.293A= c.*177A= (n.*177A=) | dbSNP |