| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343411 |
| Start |
84093726:84093726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.721C>T |
| AA Mutation |
p.Arg241Ter(p.R241*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343411 |
| Start |
84056071:84056071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2896C>T |
| AA Mutation |
p.Arg966Ter(p.R966*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MBTPS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343411 |
| Start |
84056023:84056023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145043514
|
| CDS Mutation |
c.2944G>A |
| AA Mutation |
p.Ala982Thr(p.A982T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343411 |
| Start |
84069965:84069965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1856G>A |
| AA Mutation |
p.Arg619Gln(p.R619Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343411 |
| Start |
84099085:84099085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148577579
|
| CDS Mutation |
c.389G>A |
| AA Mutation |
p.Arg130Gln(p.R130Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343411 |
| Start |
84101703:84101703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.81G>T |
| AA Mutation |
p.Lys27Asn(p.K27N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343411 |
| Start |
84091792:84091792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.903C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|