| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376215 |
| Start |
26735548:26735548(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.996delC |
| AA Mutation |
p.Thr333LeufsTer14(p.T333Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376215 |
| Start |
26724040:26724040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.748G>T |
| AA Mutation |
p.Glu250Ter(p.E250*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDSS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376215 |
| Start |
26709738:26709738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369956660
|
| CDS Mutation |
c.437G>A |
| AA Mutation |
p.Arg146Gln(p.R146Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376215 |
| Start |
26723821:26723821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.625G>T |
| AA Mutation |
p.Asp209Tyr(p.D209Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376215 |
| Start |
26704717:26704717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.203G>T |
| AA Mutation |
p.Cys68Phe(p.C68F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376215 |
| Start |
26720316:26720316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.566G>A |
| AA Mutation |
p.Arg189Gln(p.R189Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376215 |
| Start |
26723858:26723858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs539771162
|
| CDS Mutation |
c.662G>A |
| AA Mutation |
p.Arg221Gln(p.R221Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376215 |
| Start |
26742561:26742561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767162524
|
| CDS Mutation |
c.1091G>A |
| AA Mutation |
p.Arg364Gln(p.R364Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|