Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.177088C>G | CA276416971 | HBA1 | c.255C>G (p.Ser85Arg) c.159C>G (p.Ser53Arg) n.391C>G n.224C>G | dbSNP |
16 | g.177088C>A | CA276416970 | HBA1 | c.255C>A (p.Ser85Arg) c.159C>A (p.Ser53Arg) n.391C>A n.224C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.177088C>T | CA492994639 | HBA1 | c.255C>T (p.Ser85=) c.159C>T (p.Ser53=) n.391C>T n.224C>T | dbSNP gnomAD v2 gnomAD v4 |