| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173600A>T | CA125595 | HBA2 | c.429A>T (p.Ter143Tyr) c.333A>T (p.Ter111Tyr) n.565A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173600A= | CA2200880989 | HBA2 | c.429A= (p.Ter143=) c.333A= (p.Ter111=) n.565A= | dbSNP |
| 16 | g.173600A>G | CA492785678 | HBA2 | c.429A>G (p.Ter143=) c.333A>G (p.Ter111=) n.565A>G | dbSNP gnomAD v4 |