| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358359 |
| Start |
103194934:103194934(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3534delA |
| AA Mutation |
p.Val1179TyrfsTer3(p.V1179Yfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358359 |
| Start |
103177941:103177941(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2717delT |
| AA Mutation |
p.Leu906CysfsTer40(p.L906Cfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPIP5K2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358359 |
| Start |
103149237:103149237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.830G>A |
| AA Mutation |
p.Gly277Glu(p.G277E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358359 |
| Start |
103138431:103138431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.449G>A |
| AA Mutation |
p.Arg150His(p.R150H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358359 |
| Start |
103167296:103167296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147568161
|
| CDS Mutation |
c.2038C>T |
| AA Mutation |
p.Arg680Ter(p.R680*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|