| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225654C>T | CA5839694 | HBB | c.388G>A (p.Ala130Thr) c.*204G>A (n.*204G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225654C>G | CA124812 | HBB | c.388G>C (p.Ala130Pro) c.*204G>C (n.*204G>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.5225654C>A | CA379273687 | HBB | c.388G>T (p.Ala130Ser) c.*204G>T (n.*204G>T) | dbSNP |