| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225715G>C | CA217112793 | HBB | c.327C>G (p.Asn109Lys) n.259C>G c.*143C>G (n.*143C>G) | dbSNP |
| 11 | g.5225715G>T | CA217112790 | HBB | c.327C>A (p.Asn109Lys) n.259C>A c.*143C>A (n.*143C>A) | dbSNP |
| 11 | g.5225715G>A | CA5839700 | HBB | c.327C>T (p.Asn109=) n.259C>T c.*143C>T (n.*143C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |