| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000381431 |
| Start |
52029716:52029716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.391C>T |
| AA Mutation |
p.Arg131Ter(p.R131*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000381431 |
| Start |
52029779:52029780(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.327_328insATAATCAACTAGG |
| AA Mutation |
p.Phe110IlefsTer4(p.F110Ifs*4) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SGCB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381431 |
| Start |
52029715:52029715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201439705
|
| CDS Mutation |
c.392G>A |
| AA Mutation |
p.Arg131Gln(p.R131Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381431 |
| Start |
52033474:52033474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.200G>T |
| AA Mutation |
p.Cys67Phe(p.C67F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381431 |
| Start |
52033580:52033580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754884547
|
| CDS Mutation |
c.94G>A |
| AA Mutation |
p.Val32Ile(p.V32I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381431 |
| Start |
52023981:52023981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.933C>G |
| AA Mutation |
p.Asp311Glu(p.D311E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|