Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5225659T>G | CA125273 | HBB | c.383A>C (p.Gln128Pro) n.315A>C c.*199A>C (n.*199A>C) | ClinVar dbSNP |
11 | g.5225659T>C | CA125414 | HBB | c.383A>G (p.Gln128Arg) n.315A>G c.*199A>G (n.*199A>G) | ClinVar dbSNP |
11 | g.5225659T= | CA1949564684 | HBB | c.383A= (p.Gln128=) n.315A= c.*199A= (n.*199A=) | dbSNP |