| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254303C>T | CA124514 | HBG2 | c.304G>A (p.Glu102Lys) c.139G>A (p.Glu47Lys) c.274G>A (p.Glu92Lys) c.*173G>A (n.*173G>A) c.51C>T (p.Leu17=) | ClinVar dbSNP |
| 11 | g.5254303C>G | CA217121196 | HBG2 | c.304G>C (p.Glu102Gln) c.139G>C (p.Glu47Gln) c.274G>C (p.Glu92Gln) c.*173G>C (n.*173G>C) c.51C>G (p.Leu17=) | dbSNP gnomAD v4 |