| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173310T>G | CA276415057 | HBA2 | c.281T>G (p.Val94Gly) c.185T>G (p.Val62Gly) n.417T>G n.250T>G | dbSNP |
| 16 | g.173310T= | CA2200880771 | HBA2 | c.281T= (p.Val94=) c.185T= (p.Val62=) n.417T= n.250T= | dbSNP |
| 16 | g.173310T>C | CA393994261 | HBA2 | c.281T>C (p.Val94Ala) c.185T>C (p.Val62Ala) n.417T>C n.250T>C | dbSNP gnomAD v4 |