| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226974C>T | CA217115390 | HBB | c.48G>A (p.Trp16Ter) n.99G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5226974C= | CA1949570700 | HBB | c.48G= (p.Trp16=) n.99G= | dbSNP |
| 11 | g.5226974C>G | CA379274881 | HBB | c.48G>C (p.Trp16Cys) n.99G>C | dbSNP |