Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5225692T>C | CA125090 | HBB | c.350A>G (p.His117Arg) n.282A>G c.*166A>G (n.*166A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.5225692T>A | CA217112709 | HBB | c.350A>T (p.His117Leu) n.282A>T c.*166A>T (n.*166A>T) | dbSNP |
11 | g.5225692T>G | CA125143 | HBB | c.350A>C (p.His117Pro) n.282A>C c.*166A>C (n.*166A>C) | ClinVar dbSNP |