| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249499T>C | CA124602 | HBG1,HBG2 | c.184A>G (p.Lys62Glu) c.316-1012A>G (n.316-1012A>G) c.379-1012A>G (n.379-1012A>G) n.235A>G c.171T>C (p.Leu57=) c.*53A>G (n.*53A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5249499T= | CA1949583684 | HBG1,HBG2 | c.184A= (p.Lys62=) c.316-1012A= (n.316-1012A=) c.379-1012A= (n.379-1012A=) n.235A= c.171T= (p.Leu57=) c.*53A= (n.*53A=) | dbSNP |