Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5225691A>T | CA217112705 | HBB | c.351T>A (p.His117Gln) n.283T>A c.*167T>A (n.*167T>A) | ClinVar dbSNP |
11 | g.5225691A>C | CA217112701 | HBB | c.351T>G (p.His117Gln) n.283T>G c.*167T>G (n.*167T>G) | dbSNP |
11 | g.5225691A>G | CA472638487 | HBB | c.351T>C (p.His117=) n.283T>C c.*167T>C (n.*167T>C) | ClinVar dbSNP |