| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177081C>A | CA125741 | HBA1 | c.248C>A (p.Ala83Asp) c.152C>A (p.Ala51Asp) n.384C>A n.217C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.177081C>T | CA393995470 | HBA1 | c.248C>T (p.Ala83Val) c.152C>T (p.Ala51Val) n.384C>T n.217C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177081C= | CA2200883085 | HBA1 | c.248C= (p.Ala83=) c.152C= (p.Ala51=) n.384C= n.217C= | dbSNP |