| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5227000C>G | CA217115486 | HBB | c.22G>C (p.Glu8Gln) n.73G>C | dbSNP |
| 11 | g.5227000C>T | CA125168 | HBB | c.22G>A (p.Glu8Lys) n.73G>A | ClinVar dbSNP |
| 11 | g.5227000C>A | CA379274972 | HBB | c.22G>T (p.Glu8Ter) n.73G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |