| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5226583G>T | CA342856 | HBB | c.309C>A (p.Asn103Lys) n.241C>A n.360C>A c.*125C>A (n.*125C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5226583G>C | CA217113423 | HBB | c.309C>G (p.Asn103Lys) n.241C>G n.360C>G c.*125C>G (n.*125C>G) | dbSNP |
| 11 | g.5226583G= | CA1949567362 | HBB | c.309C= (p.Asn103=) n.241C= n.360C= c.*125C= (n.*125C=) | dbSNP |