| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257287 |
| Start |
55974802:55974802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750778536
|
| CDS Mutation |
c.1306C>T |
| AA Mutation |
p.Arg436Ter(p.R436*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000257287 |
| Start |
55959768:55959768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.699+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CEP135
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000257287 |
| Start |
55981227:55981227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766191061
|
| CDS Mutation |
c.1627G>A |
| AA Mutation |
p.Ala543Thr(p.A543T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257287 |
| Start |
55954333:55954333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.422G>T |
| AA Mutation |
p.Arg141Ile(p.R141I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257287 |
| Start |
56017835:56017835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146076380
|
| CDS Mutation |
c.2990C>T |
| AA Mutation |
p.Ser997Leu(p.S997L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257287 |
| Start |
56011974:56011974(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2791G>T |
| AA Mutation |
p.Glu931Ter(p.E931*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|