| Mutation ID |
34 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102115205:102115205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.608-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
35 |
| Mutation Consequence |
inframe_insertion;splice_region_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102028144:102028145(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.188_189insAAGAAG |
| AA Mutation |
p.Glu63_Ile64insArgArg(p.E63_I64insRR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CUX1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292535 |
| Start |
101916190:101916190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.106G>A |
| AA Mutation |
p.Glu36Lys(p.E36K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102196693:102196693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782489323
|
| CDS Mutation |
c.1282G>C |
| AA Mutation |
p.Ala428Pro(p.A428P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000437600 |
| Start |
102277982:102277982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1597C>A |
| AA Mutation |
p.Leu533Met(p.L533M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102201996:102201996(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2699C>T |
| AA Mutation |
p.Ala900Val(p.A900V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102202024:102202024(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2731delC |
| AA Mutation |
p.Leu911CysfsTer20(p.L911Cfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000292535 |
| Start |
102196694:102196694(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1289delC |
| AA Mutation |
p.Pro430LeufsTer27(p.P430Lfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|