| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177120C>G | CA125893 | HBA1 | c.287C>G (p.Pro96Arg) c.191C>G (p.Pro64Arg) n.423C>G n.256C>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.177120C>T | CA125731 | HBA1 | c.287C>T (p.Pro96Leu) c.191C>T (p.Pro64Leu) n.423C>T n.256C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177120C>A | CA276417026 | HBA1 | c.287C>A (p.Pro96Gln) c.191C>A (p.Pro64Gln) n.423C>A n.256C>A | dbSNP gnomAD v4 |