| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000276708 |
| Start |
129751541:129751541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.943+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000276708 |
| Start |
129751569:129751569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.917-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GSDMC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276708 |
| Start |
129751886:129751886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770331372
|
| CDS Mutation |
c.892G>A |
| AA Mutation |
p.Glu298Lys(p.E298K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276708 |
| Start |
129760559:129760559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.707G>T |
| AA Mutation |
p.Arg236Ile(p.R236I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000276708 |
| Start |
129760575:129760575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.691G>T |
| AA Mutation |
p.Asp231Tyr(p.D231Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|