| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177106G>T | CA276417004 | HBA1 | c.273G>T (p.Lys91Asn) c.177G>T (p.Lys59Asn) n.409G>T n.242G>T | dbSNP gnomAD v4 |
| 16 | g.177106G>C | CA125688 | HBA1 | c.273G>C (p.Lys91Asn) c.177G>C (p.Lys59Asn) n.409G>C n.242G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.177106G= | CA2200883106 | HBA1 | c.273G= (p.Lys91=) c.177G= (p.Lys59=) n.409G= n.242G= | dbSNP |