| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254417G>A | CA124542 | HBG2 | c.190C>T (p.His64Tyr) c.25C>T (p.His9Tyr) c.1736C>T (n.1736C>T) c.160C>T (p.His54Tyr) c.*59C>T (n.*59C>T) c.165G>A (p.Met55Ile) | ClinVar dbSNP |
| 11 | g.5254417G= | CA1949577453 | HBG2 | c.190C= (p.His64=) c.25C= (p.His9=) c.1736C= (n.1736C=) c.160C= (p.His54=) c.*59C= (n.*59C=) c.165G= (p.Met55=) | dbSNP |