Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.173236C>G | CA16602269 | HBA2 | c.207C>G (p.Asn69Lys) c.111C>G (p.Asn37Lys) n.343C>G n.176C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.173236C>A | CA276414801 | HBA2 | c.207C>A (p.Asn69Lys) c.111C>A (p.Asn37Lys) n.343C>A n.176C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |