| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000613102 |
| Start |
36581474:36581475(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1161_1162dupTG |
| AA Mutation |
p.Asp388ValfsTer15(p.D388Vfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000613102 |
| Start |
36567778:36567778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.641+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GGNBP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613102 |
| Start |
36585896:36585896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1423A>C |
| AA Mutation |
p.Ser475Arg(p.S475R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613102 |
| Start |
36567695:36567695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201874238
|
| CDS Mutation |
c.560C>T |
| AA Mutation |
p.Ser187Leu(p.S187L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613102 |
| Start |
36585351:36585351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1267G>A |
| AA Mutation |
p.Asp423Asn(p.D423N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000613102 |
| Start |
36579285:36579285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.886G>T |
| AA Mutation |
p.Glu296Ter(p.E296*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|