| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177384C>G | CA276417259 | HBA1 | c.402C>G (p.Ser134Arg) c.306C>G (p.Ser102Arg) n.538C>G | dbSNP |
| 16 | g.177384C>A | CA276417256 | HBA1 | c.402C>A (p.Ser134Arg) c.306C>A (p.Ser102Arg) n.538C>A | dbSNP |
| 16 | g.177384C>T | CA492994480 | HBA1 | c.402C>T (p.Ser134=) c.306C>T (p.Ser102=) n.538C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |