| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.176963T>G | CA125911 | HBA1 | c.130T>G (p.Phe44Val) c.34T>G (p.Phe12Val) n.266T>G n.99T>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.176963T>C | CA393995100 | HBA1 | c.130T>C (p.Phe44Leu) c.34T>C (p.Phe12Leu) n.266T>C n.99T>C | dbSNP gnomAD v4 |
| 16 | g.176963T= | CA2200882999 | HBA1 | c.130T= (p.Phe44=) c.34T= (p.Phe12=) n.266T= n.99T= | dbSNP |