| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177070C>G | CA125895 | HBA1 | c.237C>G (p.Asn79Lys) c.141C>G (p.Asn47Lys) n.373C>G n.206C>G | ClinVar dbSNP |
| 16 | g.177070C>T | CA492994608 | HBA1 | c.237C>T (p.Asn79=) c.141C>T (p.Asn47=) n.373C>T n.206C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177070C>A | CA393995430 | HBA1 | c.237C>A (p.Asn79Lys) c.141C>A (p.Asn47Lys) n.373C>A n.206C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |