| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225612G>C | CA125366 | HBB | c.430C>G (p.His144Asp) c.*246C>G (n.*246C>G) | ClinVar dbSNP |
| 11 | g.5225612G>A | CA125454 | HBB | c.430C>T (p.His144Tyr) c.*246C>T (n.*246C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225612G>T | CA217112281 | HBB | c.430C>A (p.His144Asn) c.*246C>A (n.*246C>A) | dbSNP |