| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000348332 |
| Start |
24707688:24707688(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2223delA |
| AA Mutation |
p.Glu742AsnfsTer12(p.E742Nfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000348332 |
| Start |
24752157:24752157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3881+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NCOA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348332 |
| Start |
24707571:24707571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2101G>T |
| AA Mutation |
p.Asp701Tyr(p.D701Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348332 |
| Start |
24739447:24739447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138247764
|
| CDS Mutation |
c.3217C>T |
| AA Mutation |
p.Arg1073Trp(p.R1073W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348332 |
| Start |
24665856:24665856(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.197A>C |
| AA Mutation |
p.Lys66Thr(p.K66T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000348332 |
| Start |
24707061:24707061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1591C>T |
| AA Mutation |
p.Arg531Ter(p.R531*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|