| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5249796A>C | CA124631 | HBG1,HBG2 | c.9T>G (p.His3Gln) c.316-1309T>G (n.316-1309T>G) c.379-1309T>G (n.379-1309T>G) n.60T>G c.349A>C (p.Met117Leu) | ClinVar dbSNP |
| 11 | g.5249796A= | CA1949584043 | HBG1,HBG2 | c.9T= (p.His3=) c.316-1309T= (n.316-1309T=) c.379-1309T= (n.379-1309T=) n.60T= c.349A= (p.Met117=) | dbSNP |