| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225648G>A | CA379273681 | HBB | c.394C>T (p.Gln132Ter) c.*210C>T (n.*210C>T) | ClinVar dbSNP |
| 11 | g.5225648G>T | CA125160 | HBB | c.394C>A (p.Gln132Lys) c.*210C>A (n.*210C>A) | ClinVar dbSNP |
| 11 | g.5225648G>C | CA217112422 | HBB | c.394C>G (p.Gln132Glu) c.*210C>G (n.*210C>G) | ClinVar dbSNP gnomAD v4 |