| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225690G>A | CA217112692 | HBB | c.352C>T (p.His118Tyr) n.284C>T c.*168C>T (n.*168C>T) | dbSNP |
| 11 | g.5225690G>T | CA217112698 | HBB | c.352C>A (p.His118Asn) n.284C>A c.*168C>A (n.*168C>A) | dbSNP COSMIC |
| 11 | g.5225690G>C | CA217112695 | HBB | c.352C>G (p.His118Asp) n.284C>G c.*168C>G (n.*168C>G) | dbSNP |