| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000005178 |
| Start |
95595123:95595123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139435831
|
| CDS Mutation |
c.172C>T |
| AA Mutation |
p.Arg58Ter(p.R58*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000005178 |
| Start |
95585655:95585655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1222G>T |
| AA Mutation |
p.Glu408Ter(p.E408*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDK4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005178 |
| Start |
95592555:95592555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138077797
|
| CDS Mutation |
c.572T>C |
| AA Mutation |
p.Ile191Thr(p.I191T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005178 |
| Start |
95592807:95592807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753470069
|
| CDS Mutation |
c.482G>A |
| AA Mutation |
p.Arg161Gln(p.R161Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|