| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000192788 |
| Start |
34871592:34871592(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3996delC |
| AA Mutation |
p.Ile1333SerfsTer20(p.I1333Sfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000192788 |
| Start |
34867539:34867539(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3643delC |
| AA Mutation |
p.Leu1215CysfsTer6(p.L1215Cfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UHRF1BP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000192788 |
| Start |
34856262:34856262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774161694
|
| CDS Mutation |
c.1144C>T |
| AA Mutation |
p.Arg382Cys(p.R382C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000192788 |
| Start |
34834758:34834758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.566G>A |
| AA Mutation |
p.Arg189Gln(p.R189Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000192788 |
| Start |
34870917:34870917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs76166303
|
| CDS Mutation |
c.3782G>A |
| AA Mutation |
p.Arg1261His(p.R1261H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000192788 |
| Start |
34872340:34872340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4225G>T |
| AA Mutation |
p.Glu1409Ter(p.E1409*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|