| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226735C>G | CA125186 | HBB | c.157G>C (p.Asp53His) n.89G>C n.208G>C c.141G>C (p.Leu47=) | ClinVar dbSNP |
| 11 | g.5226735C>T | CA125088 | HBB | c.157G>A (p.Asp53Asn) n.89G>A n.208G>A c.141G>A (p.Leu47=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5226735C>A | CA217114317 | HBB | c.157G>T (p.Asp53Tyr) n.89G>T n.208G>T c.141G>T (p.Leu47=) | dbSNP |