| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177376T>C | CA125939 | HBA1 | c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C | ClinVar dbSNP |
| 16 | g.177376T>G | CA393996002 | HBA1 | c.394T>G (p.Ser132Ala) c.298T>G (p.Ser100Ala) n.530T>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.177376T= | CA2200883298 | HBA1 | c.394T= (p.Ser132=) c.298T= (p.Ser100=) n.530T= | dbSNP |