| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000328257 |
| Start |
74250988:74250988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1044C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000328257 |
| Start |
74204359:74204359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.202C>T |
| AA Mutation |
p.Arg68Ter(p.R68*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPME1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328257 |
| Start |
74222361:74222361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.338G>A |
| AA Mutation |
p.Arg113Gln(p.R113Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328257 |
| Start |
74246201:74246201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.960G>T |
| AA Mutation |
p.Leu320Phe(p.L320F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328257 |
| Start |
74203741:74203741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199766005
|
| CDS Mutation |
c.115C>T |
| AA Mutation |
p.Arg39Trp(p.R39W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|