| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000294952 |
| Start |
48486641:48486641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1329A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294952 |
| Start |
48507373:48507373(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2077delT |
| AA Mutation |
p.Tyr693MetfsTer21(p.Y693Mfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPP1R21
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294952 |
| Start |
48465503:48465503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776627514
|
| CDS Mutation |
c.758G>A |
| AA Mutation |
p.Arg253Gln(p.R253Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000294952 |
| Start |
48507383:48507383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375335011
|
| CDS Mutation |
c.2083G>A |
| AA Mutation |
p.Glu695Lys(p.E695K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|