| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177366G>T | CA276417219 | HBA1 | c.384G>T (p.Lys128Asn) c.288G>T (p.Lys96Asn) n.520G>T | dbSNP |
| 16 | g.177366G>C | CA125795 | HBA1 | c.384G>C (p.Lys128Asn) c.288G>C (p.Lys96Asn) n.520G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177366G= | CA2200883292 | HBA1 | c.384G= (p.Lys128=) c.288G= (p.Lys96=) n.520G= | dbSNP |