| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177378dup | CA276417238 | HBA1 | c.396dup (p.Val133CysfsTer?) c.300dup (p.Val101CysfsTer?) n.532dup | ClinVar dbSNP |
| 16 | g.177378T= | CA2200883301 | HBA1 | c.396T= (p.Ser132=) c.300T= (p.Ser100=) n.532T= | dbSNP dbSNP dbSNP |