Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5225645T>G | CA124973 | HBB | c.397A>C (p.Lys133Gln) c.*213A>C (n.*213A>C) | ClinVar dbSNP gnomAD v4 |
11 | g.5225645T>A | CA217112395 | HBB | c.397A>T (p.Lys133Ter) c.*213A>T (n.*213A>T) | ClinVar dbSNP |
11 | g.5225645T>C | CA217112400 | HBB | c.397A>G (p.Lys133Glu) c.*213A>G (n.*213A>G) | dbSNP |