| Mutation ID |
31 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000572272 |
| Start |
5517857:5517857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3946G>T |
| AA Mutation |
p.Glu1316Ter(p.E1316*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000572272 |
| Start |
5542028:5542028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2529-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NLRP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000572272 |
| Start |
5514905:5514905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4271G>T |
| AA Mutation |
p.Ser1424Ile(p.S1424I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000572272 |
| Start |
5559778:5559778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.918G>T |
| AA Mutation |
p.Glu306Asp(p.E306D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000572272 |
| Start |
5558849:5558849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1847C>A |
| AA Mutation |
p.Pro616His(p.P616H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|