| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374994 |
| Start |
99128894:99128894(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.137T>G |
| AA Mutation |
p.Phe46Cys(p.F46C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374994 |
| Start |
99146591:99146591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200595614
|
| CDS Mutation |
c.1237C>T |
| AA Mutation |
p.Arg413Ter(p.R413*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TGFBR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374994 |
| Start |
99138006:99138006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs111854391
|
| CDS Mutation |
c.722C>T |
| AA Mutation |
p.Ser241Leu(p.S241L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374994 |
| Start |
99132667:99132667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.502C>T |
| AA Mutation |
p.Arg168Cys(p.R168C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374994 |
| Start |
99132689:99132689(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.524C>G |
| AA Mutation |
p.Thr175Ser(p.T175S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374994 |
| Start |
99128995:99128995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.238C>T |
| AA Mutation |
p.Arg80Ter(p.R80*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|