| Mutation ID |
26 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000261336 |
| Start |
9160425:9160425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2938G>T |
| AA Mutation |
p.Glu980Ter(p.E980*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9157356:9157356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3370-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PZP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9150689:9150689(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4339G>A |
| AA Mutation |
p.Asp1447Asn(p.D1447N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9166067:9166067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2243A>T |
| AA Mutation |
p.Glu748Val(p.E748V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9154714:9154714(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3676C>A |
| AA Mutation |
p.Gln1226Lys(p.Q1226K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9202335:9202335(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369009345
|
| CDS Mutation |
c.464G>A |
| AA Mutation |
p.Arg155His(p.R155H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9194079:9194079(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757782402
|
| CDS Mutation |
c.1252C>T |
| AA Mutation |
p.Arg418Trp(p.R418W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9166103:9166103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200058002
|
| CDS Mutation |
c.2207C>T |
| AA Mutation |
p.Thr736Met(p.T736M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9153268:9153268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3850G>A |
| AA Mutation |
p.Val1284Ile(p.V1284I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9166081:9166081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2229G>T |
| AA Mutation |
p.Glu743Asp(p.E743D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9194191:9194191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1140C>A |
| AA Mutation |
p.Phe380Leu(p.F380L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9201328:9201328(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.500A>C |
| AA Mutation |
p.Glu167Ala(p.E167A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261336 |
| Start |
9196377:9196377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141046682
|
| CDS Mutation |
c.1045G>A |
| AA Mutation |
p.Val349Met(p.V349M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|