| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225642C>G | CA124841 | HBB | c.400G>C (p.Val134Leu) c.*216G>C (n.*216G>C) | ClinVar dbSNP |
| 11 | g.5225642C>T | CA217112381 | HBB | c.400G>A (p.Val134Met) c.*216G>A (n.*216G>A) | dbSNP |
| 11 | g.5225642C>A | CA379273676 | HBB | c.400G>T (p.Val134Leu) c.*216G>T (n.*216G>T) | dbSNP gnomAD v3 gnomAD v4 |