Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.173592T>C | CA276415549 | HBA2 | c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.173592T= | CA2200880981 | HBA2 | c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T= | dbSNP |