Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.44900398C>T | CA249779 | ITGB2 | c.819G>A (p.Gly273=) c.792G>A (p.Gly264=) c.648G>A (p.Gly216=) n.962G>A c.*646G>A (n.*646G>A) c.612G>A (p.Gly204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44900398C>A | CA321850891 | ITGB2 | c.819G>T (p.Gly273=) c.792G>T (p.Gly264=) c.648G>T (p.Gly216=) n.962G>T c.*646G>T (n.*646G>T) c.612G>T (p.Gly204=) | dbSNP gnomAD v4 |
21 | g.44900398C>G | CA321850893 | ITGB2 | c.819G>C (p.Gly273=) c.792G>C (p.Gly264=) c.648G>C (p.Gly216=) n.962G>C c.*646G>C (n.*646G>C) c.612G>C (p.Gly204=) | dbSNP |