| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000372577 |
| Start |
128993195:128993195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2641-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000372577 |
| Start |
128998229:128998229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3429+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUP188
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372577 |
| Start |
128981300:128981300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1426G>A |
| AA Mutation |
p.Glu476Lys(p.E476K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372577 |
| Start |
129005667:129005667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4760A>C |
| AA Mutation |
p.Asn1587Thr(p.N1587T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372577 |
| Start |
128986589:128986589(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2108T>G |
| AA Mutation |
p.Leu703Arg(p.L703R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372577 |
| Start |
129002945:129002945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746647488
|
| CDS Mutation |
c.4266C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372577 |
| Start |
129005195:129005195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4483C>T |
| AA Mutation |
p.Arg1495Ter(p.R1495*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|