| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173565T>C | CA276415483 | HBA2 | c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C | ClinVar dbSNP |
| 16 | g.173565T>A | CA393994619 | HBA2 | c.394T>A (p.Ser132Thr) c.298T>A (p.Ser100Thr) n.530T>A | dbSNP gnomAD v4 |
| 16 | g.173565T= | CA2200880958 | HBA2 | c.394T= (p.Ser132=) c.298T= (p.Ser100=) n.530T= | dbSNP |