| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225622A>T | CA124906 | HBB | c.420T>A (p.Asn140Lys) c.*236T>A (n.*236T>A) | ClinVar dbSNP |
| 11 | g.5225622A>G | CA217112321 | HBB | c.420T>C (p.Asn140=) c.*236T>C (n.*236T>C) | dbSNP gnomAD v4 |
| 11 | g.5225622A= | CA1949564324 | HBB | c.420T= (p.Asn140=) c.*236T= (n.*236T=) | dbSNP |
| 11 | g.5225622A>C | CA379273655 | HBB | c.420T>G (p.Asn140Lys) c.*236T>G (n.*236T>G) | ClinVar dbSNP |