| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258886 |
| Start |
78478356:78478356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1255C>T |
| AA Mutation |
p.Arg419Ter(p.R419*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000258886 |
| Start |
78478376:78478378(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1277_1279delGAG |
| AA Mutation |
p.Gly426del(p.G426del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IREB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258886 |
| Start |
78478357:78478357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753403583
|
| CDS Mutation |
c.1256G>A |
| AA Mutation |
p.Arg419Gln(p.R419Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258886 |
| Start |
78483358:78483358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1337G>C |
| AA Mutation |
p.Ser446Thr(p.S446T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258886 |
| Start |
78471846:78471846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.805G>T |
| AA Mutation |
p.Asp269Tyr(p.D269Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258886 |
| Start |
78497252:78497252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2722G>T |
| AA Mutation |
p.Glu908Ter(p.E908*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|