Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.68815670_68815671del | CA10580116 | CDH1 | c.1476_1477del (p.Arg492SerfsTer?) c.1293_1294del (p.Arg431SerfsTer?) n.1547_1548del c.*142_*143del (n.*142_*143del) c.1539_1540del (p.Arg513SerfsTer?) c.741_742del (p.Arg247SerfsTer?) c.-73_-72del (n.-73_-72del) c.-344_-343del (n.-344_-343del) | dbSNP gnomAD v4 COSMIC |
16 | g.68815670_68815671dup | CA2732582863 | CDH1 | c.1476_1477dup (p.Val493GlufsTer30) c.1293_1294dup (p.Val432GlufsTer30) n.1547_1548dup c.*142_*143dup (n.*142_*143dup) c.1539_1540dup (p.Val514GlufsTer30) c.741_742dup (p.Val248GlufsTer30) c.-73_-72dup (n.-73_-72dup) c.-344_-343dup (n.-344_-343dup) | dbSNP |