| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.173573C>G | CA276415497 | HBA2 | c.402C>G (p.Ser134Arg) c.306C>G (p.Ser102Arg) n.538C>G | dbSNP |
| 16 | g.173573C>A | CA125650 | HBA2 | c.402C>A (p.Ser134Arg) c.306C>A (p.Ser102Arg) n.538C>A | ClinVar dbSNP |
| 16 | g.173573C>T | CA492785537 | HBA2 | c.402C>T (p.Ser134=) c.306C>T (p.Ser102=) n.538C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |