| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254725C>A | CA124518 | HBG2 | c.4G>T (p.Gly2Cys) c.-73-211G>T (n.-73-211G>T) c.1550G>T (n.1550G>T) c.63-211G>T (n.63-211G>T) c.354C>A (p.Thr118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254725C>G | CA379265513 | HBG2 | c.4G>C (p.Gly2Arg) c.-73-211G>C (n.-73-211G>C) c.1550G>C (n.1550G>C) c.63-211G>C (n.63-211G>C) c.354C>G (p.Thr118=) | dbSNP |