| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249390T>C | CA124592 | HBG1,HBG2 | c.293A>G (p.His98Arg) c.316-903A>G (n.316-903A>G) c.379-903A>G (n.379-903A>G) n.344A>G c.62T>C (p.Met21Thr) c.*162A>G (n.*162A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5249390T= | CA1949583539 | HBG1,HBG2 | c.293A= (p.His98=) c.316-903A= (n.316-903A=) c.379-903A= (n.379-903A=) n.344A= c.62T= (p.Met21=) c.*162A= (n.*162A=) | dbSNP |
| 11 | g.5249390T>A | CA379279627 | HBG1,HBG2 | c.293A>T (p.His98Leu) c.316-903A>T (n.316-903A>T) c.379-903A>T (n.379-903A>T) n.344A>T c.62T>A (p.Met21Lys) c.*162A>T (n.*162A>T) | ClinVar dbSNP |