| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225653G>T | CA124965 | HBB | c.389C>A (p.Ala130Asp) c.*205C>A (n.*205C>A) | ClinVar dbSNP |
| 11 | g.5225653G>A | CA124993 | HBB | c.389C>T (p.Ala130Val) c.*205C>T (n.*205C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225653G= | CA1949564615 | HBB | c.389C= (p.Ala130=) c.*205C= (n.*205C=) | dbSNP dbSNP |