| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67074242:67074242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765909612
|
| CDS Mutation |
c.99-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67105903:67105903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1050-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CSPP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67095482:67095482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201451280
|
| CDS Mutation |
c.700G>A |
| AA Mutation |
p.Glu234Lys(p.E234K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67137597:67137597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1954C>A |
| AA Mutation |
p.Leu652Met(p.L652M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67154118:67154118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2208G>T |
| AA Mutation |
p.Lys736Asn(p.K736N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67195400:67195400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3473T>C |
| AA Mutation |
p.Val1158Ala(p.V1158A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67149905:67149905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2083A>C |
| AA Mutation |
p.Asn695His(p.N695H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67195578:67195578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761243317
|
| CDS Mutation |
c.3651G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262210 |
| Start |
67118275:67118275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1509A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|