| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173500T>C | CA393994447 | HBA2 | c.329T>C (p.Leu110Pro) c.233T>C (p.Leu78Pro) n.465T>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173500T>G | CA125561 | HBA2 | c.329T>G (p.Leu110Arg) c.233T>G (p.Leu78Arg) n.465T>G | ClinVar dbSNP |
| 16 | g.173500T= | CA2200880908 | HBA2 | c.329T= (p.Leu110=) c.233T= (p.Leu78=) n.465T= | dbSNP |