| Mutation ID |
25 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000413272 |
| Start |
28045661:28045661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1313-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000413272 |
| Start |
28031241:28031241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1908+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUGGC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000413272 |
| Start |
28064557:28064557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778149850
|
| CDS Mutation |
c.886G>A |
| AA Mutation |
p.Asp296Asn(p.D296N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000413272 |
| Start |
28067631:28067631(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.594G>T |
| AA Mutation |
p.Trp198Cys(p.W198C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000413272 |
| Start |
28023373:28023373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2335G>T |
| AA Mutation |
p.Glu779Ter(p.E779*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000413272 |
| Start |
28027053:28027053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2155-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|