| Mutation ID |
26 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290866 |
| Start |
63491354:63491354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2885G>A |
| AA Mutation |
p.Trp962Ter(p.W962*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63486985:63486985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2218-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63496926:63496926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3632A>C |
| AA Mutation |
p.Glu1211Ala(p.E1211A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63483904:63483904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1642G>T |
| AA Mutation |
p.Ala548Ser(p.A548S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63486648:63486648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2150T>G |
| AA Mutation |
p.Ile717Ser(p.I717S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63497315:63497315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3870G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|