| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000254321 |
| Start |
11947515:11947515(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.198delA |
| AA Mutation |
p.Lys66AsnfsTer22(p.K66Nfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000254321 |
| Start |
11947531:11947531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.208C>T |
| AA Mutation |
p.Gln70Ter(p.Q70*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ZNF700
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254321 |
| Start |
11948653:11948653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375165208
|
| CDS Mutation |
c.629G>A |
| AA Mutation |
p.Arg210Gln(p.R210Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254321 |
| Start |
11948540:11948540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.516G>T |
| AA Mutation |
p.Lys172Asn(p.K172N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254321 |
| Start |
11949185:11949185(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1161G>T |
| AA Mutation |
p.Glu387Asp(p.E387D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254321 |
| Start |
11948841:11948841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.817A>T |
| AA Mutation |
p.Thr273Ser(p.T273S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254321 |
| Start |
11949241:11949241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200865704
|
| CDS Mutation |
c.1217G>A |
| AA Mutation |
p.Arg406Gln(p.R406Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000254321 |
| Start |
11950031:11950031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2007G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|