| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177407G>C | CA125889 | HBA1 | c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.177407G>A | CA125901 | HBA1 | c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A | ClinVar dbSNP |
| 16 | g.177407G>T | CA125809 | HBA1 | c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T | ClinVar dbSNP |