| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000332549 |
| Start |
102022187:102022187(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.696delA |
| AA Mutation |
p.Glu233LysfsTer6(p.E233Kfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000332549 |
| Start |
102024555:102024555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.774T>A |
| AA Mutation |
p.Cys258Ter(p.C258*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IL1R2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332549 |
| Start |
102026154:102026154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.931A>T |
| AA Mutation |
p.Ile311Phe(p.I311F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332549 |
| Start |
102008588:102008588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.13T>C |
| AA Mutation |
p.Tyr5His(p.Y5H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332549 |
| Start |
102016017:102016017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143112573
|
| CDS Mutation |
c.479G>A |
| AA Mutation |
p.Arg160His(p.R160H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332549 |
| Start |
102022244:102022244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.746C>A |
| AA Mutation |
p.Ser249Tyr(p.S249Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|