| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13397390:13397390(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs773055247
|
| CDS Mutation |
c.403delC |
| AA Mutation |
p.Leu135TrpfsTer3(p.L135Wfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13335502:13335502(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3795delG |
| AA Mutation |
p.Gln1266SerfsTer28(p.Q1266Sfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUP210
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13397414:13397414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.379G>A |
| AA Mutation |
p.Glu127Lys(p.E127K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13365993:13365993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141744656
|
| CDS Mutation |
c.1885G>A |
| AA Mutation |
p.Val629Ile(p.V629I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13378944:13378944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1013G>A |
| AA Mutation |
p.Ser338Asn(p.S338N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13373838:13373838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149524649
|
| CDS Mutation |
c.1467G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13341750:13341750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3226G>T |
| AA Mutation |
p.Glu1076Ter(p.E1076*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000254508 |
| Start |
13317782:13317782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5564-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|