| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177119C>T | CA276417023 | HBA1 | c.286C>T (p.Pro96Ser) c.190C>T (p.Pro64Ser) n.422C>T n.255C>T | dbSNP |
| 16 | g.177119C>G | CA125713 | HBA1 | c.286C>G (p.Pro96Ala) c.190C>G (p.Pro64Ala) n.422C>G n.255C>G | ClinVar dbSNP |
| 16 | g.177119C>A | CA125993 | HBA1 | c.286C>A (p.Pro96Thr) c.190C>A (p.Pro64Thr) n.422C>A n.255C>A | ClinVar dbSNP gnomAD v4 |