| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177133G>T | CA126011 | HBA1 | c.300G>T (p.Lys100Asn) c.204G>T (p.Lys68Asn) n.436G>T n.269G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177133G= | CA2200883124 | HBA1 | c.300G= (p.Lys100=) c.204G= (p.Lys68=) n.436G= n.269G= | dbSNP dbSNP |
| 16 | g.177133G>C | CA393995692 | HBA1 | c.300G>C (p.Lys100Asn) c.204G>C (p.Lys68Asn) n.436G>C n.269G>C | dbSNP gnomAD v4 |