| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28699930del | CA10581062 | CHEK2 | c.829del (n.829del) c.920del (p.Gly307GlufsTer13) c.719del (p.Gly240GlufsTer13) c.257del (p.Gly86GlufsTer13) c.260del (p.Gly87GlufsTer13) n.472del c.1049del (p.Gly350GlufsTer13) c.647del (p.Gly216GlufsTer13) c.*410del (n.*410del) c.*645del (n.*645del) c.858del (p.Arg287GlufsTer?) c.151del c.391del (n.391del) c.810del (n.810del) c.175del n.477del c.440del (p.Gly147GlufsTer13) c.377del (p.Gly126GlufsTer13) c.1079del (p.Gly360GlufsTer13) c.848del (p.Gly283GlufsTer13) c.749del (p.Gly250GlufsTer13) n.1079del n.1074del c.473del (p.Gly158GlufsTer13) c.1043del (p.Gly348GlufsTer13) c.950del (p.Gly317GlufsTer13) n.1090del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28699929_28699930del | CA2499226072 | CHEK2 | c.828_829del (n.828_829del) c.919_920del (p.Gly307ArgfsTer4) c.718_719del (p.Gly240ArgfsTer4) c.256_257del (p.Gly86ArgfsTer4) c.259_260del (p.Gly87ArgfsTer4) n.471_472del c.1048_1049del (p.Gly350ArgfsTer4) c.646_647del (p.Gly216ArgfsTer4) c.*409_*410del (n.*409_*410del) c.*644_*645del (n.*644_*645del) c.857_858del (p.Gly286GlufsTer13) c.150_151del c.390_391del (n.390_391del) c.809_810del (n.809_810del) c.174_175del n.476_477del c.439_440del (p.Gly147ArgfsTer4) c.376_377del (p.Gly126ArgfsTer4) c.1078_1079del (p.Gly360ArgfsTer4) c.847_848del (p.Gly283ArgfsTer4) c.748_749del (p.Gly250ArgfsTer4) n.1078_1079del n.1073_1074del c.472_473del (p.Gly158ArgfsTer4) c.1042_1043del (p.Gly348ArgfsTer4) c.949_950del (p.Gly317ArgfsTer4) n.1089_1090del | ClinVar dbSNP |
| 22 | g.28699930dup | CA195208 | CHEK2 | c.829dup (n.829dup) c.920dup (p.Glu308ArgfsTer4) c.719dup (p.Glu241ArgfsTer4) c.257dup (p.Glu87ArgfsTer4) c.260dup (p.Glu88ArgfsTer4) n.472dup c.1049dup (p.Glu351ArgfsTer4) c.647dup (p.Glu217ArgfsTer4) c.*410dup (n.*410dup) c.*645dup (n.*645dup) c.858dup (p.Arg287GlufsTer13) c.151dup c.391dup (n.391dup) c.810dup (n.810dup) c.175dup n.477dup c.440dup (p.Glu148ArgfsTer4) c.377dup (p.Glu127ArgfsTer4) c.1079dup (p.Glu361ArgfsTer4) c.848dup (p.Glu284ArgfsTer4) c.749dup (p.Glu251ArgfsTer4) n.1079dup n.1074dup c.473dup (p.Glu159ArgfsTer4) c.1043dup (p.Glu349ArgfsTer4) c.950dup (p.Glu318ArgfsTer4) n.1090dup | ClinVar dbSNP gnomAD v4 |