| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336505 |
| Start |
125055988:125055988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.118G>T |
| AA Mutation |
p.Glu40Ter(p.E40*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336505 |
| Start |
125026849:125026849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.475C>T |
| AA Mutation |
p.Gln159Ter(p.Q159*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SCAI
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336505 |
| Start |
124994956:124994956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757912013
|
| CDS Mutation |
c.1304C>T |
| AA Mutation |
p.Ser435Leu(p.S435L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336505 |
| Start |
125020749:125020749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.533A>C |
| AA Mutation |
p.Lys178Thr(p.K178T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336505 |
| Start |
125001980:125001980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760144612
|
| CDS Mutation |
c.1129C>T |
| AA Mutation |
p.Arg377Cys(p.R377C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336505 |
| Start |
125002019:125002019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1090C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|