| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225695G>A | CA217112727 | HBB | c.347C>T (p.Ala116Val) n.279C>T c.*163C>T (n.*163C>T) | ClinVar dbSNP |
| 11 | g.5225695G>T | CA125396 | HBB | c.347C>A (p.Ala116Asp) n.279C>A c.*163C>A (n.*163C>A) | ClinVar dbSNP |
| 11 | g.5225695G= | CA1949565035 | HBB | c.347C= (p.Ala116=) n.279C= c.*163C= (n.*163C=) | dbSNP |