| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225656G>A | CA125488 | HBB | c.386C>T (p.Ala129Val) n.318C>T c.*202C>T (n.*202C>T) | ClinVar dbSNP |
| 11 | g.5225656G>T | CA124949 | HBB | c.386C>A (p.Ala129Asp) n.318C>A c.*202C>A (n.*202C>A) | ClinVar dbSNP |
| 11 | g.5225656G= | CA1949564641 | HBB | c.386C= (p.Ala129=) n.318C= c.*202C= (n.*202C=) | dbSNP |