Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.44901646T>G | CA120443 | ITGB2 | c.587A>C (p.Lys196Thr) c.560A>C (p.Lys187Thr) c.416A>C (p.Lys139Thr) n.730A>C n.468A>C c.*414A>C (n.*414A>C) c.380A>C (p.Lys127Thr) | ClinVar dbSNP |
21 | g.44901646T>C | CA410476283 | ITGB2 | c.587A>G (p.Lys196Arg) c.560A>G (p.Lys187Arg) c.416A>G (p.Lys139Arg) n.730A>G n.468A>G c.*414A>G (n.*414A>G) c.380A>G (p.Lys127Arg) | dbSNP gnomAD v2 gnomAD v4 |