| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000320476 |
| Start |
143810779:143810779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1311G>A |
| AA Mutation |
p.Trp437Ter(p.W437*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000320476 |
| Start |
143813469:143813469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753969093
|
| CDS Mutation |
c.503+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCRIB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320476 |
| Start |
143804786:143804786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369239046
|
| CDS Mutation |
c.2791G>A |
| AA Mutation |
p.Ala931Thr(p.A931T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000320476 |
| Start |
143792764:143792764(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4121delC |
| AA Mutation |
p.Pro1374LeufsTer133(p.P1374Lfs*133) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|