| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254366C>A | CA217121234 | HBG2 | c.241G>T (p.Asp81Tyr) c.76G>T (p.Asp26Tyr) c.211G>T (p.Asp71Tyr) c.*110G>T (n.*110G>T) c.114C>A (p.Ile38=) | dbSNP gnomAD v4 |
| 11 | g.5254366C>G | CA217121237 | HBG2 | c.241G>C (p.Asp81His) c.76G>C (p.Asp26His) c.211G>C (p.Asp71His) c.*110G>C (n.*110G>C) c.114C>G (p.Ile38Met) | dbSNP |
| 11 | g.5254366C>T | CA124522 | HBG2 | c.241G>A (p.Asp81Asn) c.76G>A (p.Asp26Asn) c.211G>A (p.Asp71Asn) c.*110G>A (n.*110G>A) c.114C>T (p.Ile38=) | ClinVar dbSNP |