| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.150398376dup | CA645372422 | TCOF1 | c.4251dup (p.Glu1418ArgfsTer15) c.4368dup (p.Glu1457ArgfsTer15) c.4023dup (p.Glu1342ArgfsTer15) c.4134dup (p.Glu1379ArgfsTer15) c.4365dup (p.Glu1456ArgfsTer15) c.4254dup (p.Glu1419ArgfsTer15) c.4137dup (p.Glu1380ArgfsTer15) c.465dup (p.Glu156ArgfsTer15) c.4479dup (p.Glu1494ArgfsTer15) c.4476dup (p.Glu1493ArgfsTer15) c.4248dup (p.Glu1417ArgfsTer15) c.4299dup (p.Glu1434ArgfsTer15) c.4362dup (p.Glu1455ArgfsTer15) c.4188dup (p.Glu1397ArgfsTer15) c.4074dup (p.Glu1359ArgfsTer15) | ClinVar dbSNP gnomAD v4 |
| 5 | g.150398376del | CA252949 | TCOF1 | c.4251del (p.Glu1418LysfsTer?) c.4368del (p.Glu1457LysfsTer?) c.4023del (p.Glu1342LysfsTer?) c.4134del (p.Glu1379LysfsTer?) c.4365del (p.Glu1456LysfsTer?) c.4254del (p.Glu1419LysfsTer?) c.4137del (p.Glu1380LysfsTer?) c.465del (p.Glu156LysfsTer?) c.4479del (p.Glu1494LysfsTer?) c.4476del (p.Glu1493LysfsTer?) c.4248del (p.Glu1417LysfsTer?) c.4299del (p.Glu1434LysfsTer?) c.4362del (p.Glu1455LysfsTer?) c.4188del (p.Glu1397LysfsTer?) c.4074del (p.Glu1359LysfsTer?) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.150398372_150398376del | CA915942668 | TCOF1 | c.4247_4251del (p.Lys1416ArgfsTer15) c.4364_4368del (p.Lys1455ArgfsTer15) c.4019_4023del (p.Lys1340ArgfsTer15) c.4130_4134del (p.Lys1377ArgfsTer15) c.4361_4365del (p.Lys1454ArgfsTer15) c.4250_4254del (p.Lys1417ArgfsTer15) c.4133_4137del (p.Lys1378ArgfsTer15) c.461_465del (p.Lys154ArgfsTer15) c.4475_4479del (p.Lys1492ArgfsTer15) c.4472_4476del (p.Lys1491ArgfsTer15) c.4244_4248del (p.Lys1415ArgfsTer15) c.4295_4299del (p.Lys1432ArgfsTer15) c.4358_4362del (p.Lys1453ArgfsTer15) c.4184_4188del (p.Lys1395ArgfsTer15) c.4070_4074del (p.Lys1357ArgfsTer15) | ClinVar dbSNP |
| 5 | g.150398375_150398376del | CA16618144 | TCOF1 | c.4250_4251del (p.Lys1417ArgfsTer15) c.4367_4368del (p.Lys1456ArgfsTer15) c.4022_4023del (p.Lys1341ArgfsTer15) c.4133_4134del (p.Lys1378ArgfsTer15) c.4364_4365del (p.Lys1455ArgfsTer15) c.4253_4254del (p.Lys1418ArgfsTer15) c.4136_4137del (p.Lys1379ArgfsTer15) c.464_465del (p.Lys155ArgfsTer15) c.4478_4479del (p.Lys1493ArgfsTer15) c.4475_4476del (p.Lys1492ArgfsTer15) c.4247_4248del (p.Lys1416ArgfsTer15) c.4298_4299del (p.Lys1433ArgfsTer15) c.4361_4362del (p.Lys1454ArgfsTer15) c.4187_4188del (p.Lys1396ArgfsTer15) c.4073_4074del (p.Lys1358ArgfsTer15) | ClinVar dbSNP |