Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5249786C>G | CA124608 | HBG1,HBG2 | c.19G>C (p.Glu7Gln) c.316-1299G>C (n.316-1299G>C) c.379-1299G>C (n.379-1299G>C) n.70G>C c.339C>G (p.Leu113=) | ClinVar dbSNP gnomAD v4 |
11 | g.5249786C>T | CA217118970 | HBG1,HBG2 | c.19G>A (p.Glu7Lys) c.316-1299G>A (n.316-1299G>A) c.379-1299G>A (n.379-1299G>A) n.70G>A c.339C>T (p.Leu113=) | dbSNP |