| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000350375 |
| Start |
87273413:87273413(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.148G>T |
| AA Mutation |
p.Gly50Ter(p.G50*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000350375 |
| Start |
87261271:87261271(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.665+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POU1F1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350375 |
| Start |
87261288:87261288(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374853152
|
| CDS Mutation |
c.650G>A |
| AA Mutation |
p.Arg217Gln(p.R217Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000350375 |
| Start |
87262233:87262233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.442T>C |
| AA Mutation |
p.Tyr148His(p.Y148H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350375 |
| Start |
87259959:87259959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104893755
|
| CDS Mutation |
c.811C>T |
| AA Mutation |
p.Arg271Trp(p.R271W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350375 |
| Start |
87264360:87264360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.367G>T |
| AA Mutation |
p.Asp123Tyr(p.D123Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350375 |
| Start |
87264488:87264488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.239A>C |
| AA Mutation |
p.Lys80Thr(p.K80T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000350375 |
| Start |
87264315:87264315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.412G>T |
| AA Mutation |
p.Glu138Ter(p.E138*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|