| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225635G>A | CA5839691 | HBB | c.407C>T (p.Ala136Val) c.*223C>T (n.*223C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225635G>T | CA125405 | HBB | c.407C>A (p.Ala136Asp) c.*223C>A (n.*223C>A) | ClinVar dbSNP |
| 11 | g.5225635G= | CA1949564419 | HBB | c.407C= (p.Ala136=) c.*223C= (n.*223C=) | dbSNP |