| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5225714C>T | CA125147 | HBB | c.328G>A (p.Val110Met) n.260G>A c.*144G>A (n.*144G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225714C>G | CA124969 | HBB | c.328G>C (p.Val110Leu) n.260G>C c.*144G>C (n.*144G>C) | ClinVar dbSNP |
| 11 | g.5225714C>A | CA217112786 | HBB | c.328G>T (p.Val110Leu) n.260G>T c.*144G>T (n.*144G>T) | dbSNP |