| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000312777 |
| Start |
109907613:109907613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.613G>T |
| AA Mutation |
p.Glu205Ter(p.E205*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000312777 |
| Start |
109914629:109914629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1320+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TCHP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312777 |
| Start |
109911167:109911167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.984G>T |
| AA Mutation |
p.Met328Ile(p.M328I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312777 |
| Start |
109906630:109906630(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs766799225
|
| CDS Mutation |
c.522delA |
| AA Mutation |
p.Lys174AsnfsTer26(p.K174Nfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|