| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28687965del | CA294479 | CHEK2 | c.*302del (n.*302del) c.1366del (p.Arg456ValfsTer?) c.1567del (p.Arg523ValfsTer?) c.904del (p.Arg302ValfsTer?) c.907del (p.Arg303ValfsTer?) n.1119del c.1480del (p.Arg494ValfsTer?) c.1696del (p.Arg566ValfsTer?) c.1294del (p.Arg432ValfsTer?) c.*1057del (n.*1057del) c.1476del (n.1476del) c.1505del (n.1505del) c.765del c.1457del (n.1457del) c.369del n.301del c.1087del (p.Arg363ValfsTer?) c.1024del (p.Arg342ValfsTer?) c.1726del (p.Arg576ValfsTer?) c.1639del (p.Arg547ValfsTer?) c.1495del (p.Arg499ValfsTer?) c.1396del (p.Arg466ValfsTer?) n.1726del c.1120del (p.Arg374ValfsTer?) c.1690del (p.Arg564ValfsTer?) c.1597del (p.Arg533ValfsTer?) c.1510del (p.Arg504ValfsTer?) n.1737del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28687965dup | CA2573157924 | CHEK2 | c.*302dup (n.*302dup) c.1366dup (p.Arg456ProfsTer2) c.1567dup (p.Arg523ProfsTer2) c.904dup (p.Arg302ProfsTer2) c.907dup (p.Arg303ProfsTer2) n.1119dup c.1480dup (p.Arg494ProfsTer2) c.1696dup (p.Arg566ProfsTer2) c.1294dup (p.Arg432ProfsTer2) c.*1057dup (n.*1057dup) c.1476dup (n.1476dup) c.1505dup (n.1505dup) c.765dup c.1457dup (n.1457dup) c.369dup n.301dup c.1087dup (p.Arg363ProfsTer2) c.1024dup (p.Arg342ProfsTer2) c.1726dup (p.Arg576ProfsTer2) c.1639dup (p.Arg547ProfsTer2) c.1495dup (p.Arg499ProfsTer2) c.1396dup (p.Arg466ProfsTer2) n.1726dup c.1120dup (p.Arg374ProfsTer2) c.1690dup (p.Arg564ProfsTer2) c.1597dup (p.Arg533ProfsTer2) c.1510dup (p.Arg504ProfsTer2) n.1737dup | ClinVar dbSNP |