| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5253357C>T | CA124500 | HBG2 | c.364G>A (p.Glu122Lys) c.199G>A (p.Glu67Lys) c.315+935G>A (n.315+935G>A) c.334G>A (p.Glu112Lys) | ClinVar dbSNP |
| 11 | g.5253357C= | CA1949575490 | HBG2 | c.364G= (p.Glu122=) c.199G= (p.Glu67=) c.315+935G= (n.315+935G=) c.334G= (p.Glu112=) | dbSNP |