| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177389T>A | CA125937 | HBA1 | c.407T>A (p.Val136Glu) c.311T>A (p.Val104Glu) n.543T>A | ClinVar dbSNP |
| 16 | g.177389T= | CA2200883313 | HBA1 | c.407T= (p.Val136=) c.311T= (p.Val104=) n.543T= | dbSNP |
| 16 | g.177389T>C | CA393996018 | HBA1 | c.407T>C (p.Val136Ala) c.311T>C (p.Val104Ala) n.543T>C | dbSNP gnomAD v4 |