| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000309241 |
| Start |
149832755:149832755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781573672
|
| CDS Mutation |
c.682C>T |
| AA Mutation |
p.Gln228Ter(p.Q228*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000309241 |
| Start |
149833408:149833409(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs775851646
|
| CDS Mutation |
c.1348_1350dupGAG |
| AA Mutation |
p.Glu450dup(p.E450dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPARGC1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309241 |
| Start |
149820517:149820517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.163G>A |
| AA Mutation |
p.Ala55Thr(p.A55T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309241 |
| Start |
149836437:149836437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779270704
|
| CDS Mutation |
c.1982G>A |
| AA Mutation |
p.Arg661Gln(p.R661Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000309241 |
| Start |
149837060:149837060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2605C>T |
| AA Mutation |
p.Arg869Ter(p.R869*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|