| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000252108 |
| Start |
118379703:118379704(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1829_1830insGTAGCCATCTGGCA |
| AA Mutation |
p.Thr611Ter(p.T611*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000252108 |
| Start |
118381390:118381390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1877-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UBE4A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252108 |
| Start |
118374919:118374919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1140G>T |
| AA Mutation |
p.Lys380Asn(p.K380N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252108 |
| Start |
118382767:118382767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782627132
|
| CDS Mutation |
c.2188G>A |
| AA Mutation |
p.Glu730Lys(p.E730K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252108 |
| Start |
118368693:118368693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761759681
|
| CDS Mutation |
c.184G>A |
| AA Mutation |
p.Asp62Asn(p.D62N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252108 |
| Start |
118373550:118373550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.981G>T |
| AA Mutation |
p.Lys327Asn(p.K327N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000252108 |
| Start |
118374959:118374959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1180G>T |
| AA Mutation |
p.Glu394Ter(p.E394*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|