| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000436863 |
| Start |
105026321:105026321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs555661640
|
| CDS Mutation |
c.1152G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000436863 |
| Start |
105030343:105030343(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs746543598
|
| CDS Mutation |
c.614delA |
| AA Mutation |
p.Asn205IlefsTer7(p.N205Ifs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CASP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436863 |
| Start |
105029253:105029253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.877G>A |
| AA Mutation |
p.Val293Met(p.V293M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000436863 |
| Start |
105026353:105026353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750821528
|
| CDS Mutation |
c.1120C>T |
| AA Mutation |
p.Arg374Ter(p.R374*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|