| Mutation ID |
31 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000315596 |
| Start |
32764596:32764596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3624+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000315596 |
| Start |
32658433:32658433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.400-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDS5B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315596 |
| Start |
32701428:32701428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1846G>A |
| AA Mutation |
p.Glu616Lys(p.E616K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315596 |
| Start |
32760654:32760654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3452G>A |
| AA Mutation |
p.Arg1151Gln(p.R1151Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315596 |
| Start |
32667785:32667785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646G>A |
| AA Mutation |
p.Asp216Asn(p.D216N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315596 |
| Start |
32770506:32770506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201933867
|
| CDS Mutation |
c.4010C>T |
| AA Mutation |
p.Thr1337Met(p.T1337M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000315596 |
| Start |
32742615:32742615(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2500C>T |
| AA Mutation |
p.Arg834Ter(p.R834*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|