| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265162 |
| Start |
110553376:110553376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201624755
|
| CDS Mutation |
c.2563C>T |
| AA Mutation |
p.Arg855Ter(p.R855*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000265162 |
| Start |
110542847:110542848(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1904_1905insATG |
| AA Mutation |
p.Thr635_Trp636insCys(p.T635_W636insC) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ENPEP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265162 |
| Start |
110543046:110543046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1976T>A |
| AA Mutation |
p.Ile659Asn(p.I659N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265162 |
| Start |
110548236:110548236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763798263
|
| CDS Mutation |
c.2061G>T |
| AA Mutation |
p.Glu687Asp(p.E687D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265162 |
| Start |
110476721:110476721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146706022
|
| CDS Mutation |
c.307G>A |
| AA Mutation |
p.Asp103Asn(p.D103N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265162 |
| Start |
110520298:110520298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1659G>T |
| AA Mutation |
p.Lys553Asn(p.K553N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265162 |
| Start |
110476765:110476765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.351C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|