| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369002 |
| Start |
107871769:107871769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2218G>T |
| AA Mutation |
p.Glu740Ter(p.E740*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107902842:107902842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1209+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEC63
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107929461:107929461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756084065
|
| CDS Mutation |
c.178C>T |
| AA Mutation |
p.Arg60Cys(p.R60C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107929455:107929455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765786241
|
| CDS Mutation |
c.184C>T |
| AA Mutation |
p.Arg62Trp(p.R62W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107906461:107906461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.948G>T |
| AA Mutation |
p.Glu316Asp(p.E316D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369002 |
| Start |
107893491:107893491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1665C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|