| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.177116G>A | CA125907 | HBA1 | c.283G>A (p.Asp95Asn) c.187G>A (p.Asp63Asn) n.419G>A n.252G>A | ClinVar dbSNP |
| 16 | g.177116G>T | CA125879 | HBA1 | c.283G>T (p.Asp95Tyr) c.187G>T (p.Asp63Tyr) n.419G>T n.252G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.177116G>C | CA125899 | HBA1 | c.283G>C (p.Asp95His) c.187G>C (p.Asp63His) n.419G>C n.252G>C | ClinVar dbSNP |