| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173599A>T | CA393994690 | HBA2 | c.428A>T (p.Ter143Leu) c.332A>T (p.Ter111Leu) n.564A>T | ClinVar dbSNP |
| 16 | g.173599A>C | CA125552 | HBA2 | c.428A>C (p.Ter143Ser) c.332A>C (p.Ter111Ser) n.564A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.173599A= | CA2200880988 | HBA2 | c.428A= (p.Ter143=) c.332A= (p.Ter111=) n.564A= | dbSNP |