| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225638A>C | CA217112364 | HBB | c.404T>G (p.Val135Gly) c.*220T>G (n.*220T>G) | dbSNP gnomAD v4 |
| 11 | g.5225638A>G | CA125496 | HBB | c.404T>C (p.Val135Ala) c.*220T>C (n.*220T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225638A>T | CA125066 | HBB | c.404T>A (p.Val135Glu) c.*220T>A (n.*220T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |