| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177040C>G | CA7770246 | HBA1 | c.207C>G (p.Asn69Lys) c.111C>G (p.Asn37Lys) n.343C>G n.176C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177040C>A | CA16602273 | HBA1 | c.207C>A (p.Asn69Lys) c.111C>A (p.Asn37Lys) n.343C>A n.176C>A | ClinVar dbSNP |
| 16 | g.177040C= | CA2200883052 | HBA1 | c.207C= (p.Asn69=) c.111C= (p.Asn37=) n.343C= n.176C= | dbSNP |