| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225696C>A | CA379273726 | HBB | c.346G>T (p.Ala116Ser) n.278G>T c.*162G>T (n.*162G>T) | dbSNP |
| 11 | g.5225696C>G | CA125013 | HBB | c.346G>C (p.Ala116Pro) n.278G>C c.*162G>C (n.*162G>C) | ClinVar dbSNP |
| 11 | g.5225696C= | CA1949565039 | HBB | c.346G= (p.Ala116=) n.278G= c.*162G= (n.*162G=) | dbSNP |