Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5253344T>G | CA124534 | HBG2 | c.377A>C (p.Glu126Ala) c.212A>C (p.Glu71Ala) c.315+948A>C (n.315+948A>C) c.347A>C (p.Glu116Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5253344T>A | CA217120608 | HBG2 | c.377A>T (p.Glu126Val) c.212A>T (p.Glu71Val) c.315+948A>T (n.315+948A>T) c.347A>T (p.Glu116Val) | dbSNP |