| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101471213:101471213(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs757567055
|
| CDS Mutation |
c.2379delA |
| AA Mutation |
p.Gly794ValfsTer8(p.G794Vfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101471212:101471213(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2379dupA |
| AA Mutation |
p.Gly794ArgfsTer13(p.G794Rfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPC6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101473695:101473695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1823C>T |
| AA Mutation |
p.Ser608Phe(p.S608F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101455035:101455035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2551C>G |
| AA Mutation |
p.Pro851Ala(p.P851A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101504703:101504703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.266G>T |
| AA Mutation |
p.Ser89Ile(p.S89I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101452997:101452997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2754G>T |
| AA Mutation |
p.Glu918Asp(p.E918D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101453700:101453700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2594G>A |
| AA Mutation |
p.Arg865Lys(p.R865K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101473656:101473656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1862G>A |
| AA Mutation |
p.Gly621Glu(p.G621E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344327 |
| Start |
101473534:101473534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1984G>T |
| AA Mutation |
p.Ala662Ser(p.A662S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|