| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44894992A>G | CA2391876661 | ITGB2 | c.1134T>C (p.His378=) c.1062T>C (p.His354=) c.891T>C (p.His297=) n.1205T>C c.*889T>C (n.*889T>C) c.855T>C (p.His285=) | dbSNP |
| 21 | g.44894992A>T | CA321899204 | ITGB2 | c.1134T>A (p.His378Gln) c.1062T>A (p.His354Gln) c.891T>A (p.His297Gln) n.1205T>A c.*889T>A (n.*889T>A) c.855T>A (p.His285Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44894992A>C | CA410486242 | ITGB2 | c.1134T>G (p.His378Gln) c.1062T>G (p.His354Gln) c.891T>G (p.His297Gln) n.1205T>G c.*889T>G (n.*889T>G) c.855T>G (p.His285Gln) | dbSNP |