| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225632C>G | CA217112353 | HBB | c.410G>C (p.Gly137Ala) c.*226G>C (n.*226G>C) | dbSNP |
| 11 | g.5225632C>T | CA124914 | HBB | c.410G>A (p.Gly137Asp) c.*226G>A (n.*226G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225632C= | CA1949564393 | HBB | c.410G= (p.Gly137=) c.*226G= (n.*226G=) | dbSNP |