| Mutation ID |
27 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000435532 |
| Start |
55951390:55951390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.223G>T |
| AA Mutation |
p.Glu75Ter(p.E75*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55848888:55848888(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2605-2delA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NEDD4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000435532 |
| Start |
55924657:55924657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs547250575
|
| CDS Mutation |
c.280G>A |
| AA Mutation |
p.Glu94Lys(p.E94K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55852527:55852527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2300C>A |
| AA Mutation |
p.Ser767Tyr(p.S767Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55869670:55869670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1673G>T |
| AA Mutation |
p.Arg558Ile(p.R558I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55915762:55915762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780759541
|
| CDS Mutation |
c.1070C>T |
| AA Mutation |
p.Ser357Leu(p.S357L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55915431:55915431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1401C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55915323:55915323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1509C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000508342 |
| Start |
55829908:55829908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3949G>T |
| AA Mutation |
p.Gly1317Ter(p.G1317*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55834225:55834225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3579+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|