| Mutation ID |
9 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000437043 |
| Start |
96896494:96896495(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1361_1362insTATTTGACA |
| AA Mutation |
p.Ser454_Tyr455insIleTerHis(p.S454_Y455insI*H) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000437043 |
| Start |
96889200:96889201(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.869dupC |
| AA Mutation |
p.Asp291ArgfsTer18(p.D291Rfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERAP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000437043 |
| Start |
96912697:96912697(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2415G>T |
| AA Mutation |
p.Trp805Cys(p.W805C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000437043 |
| Start |
96917462:96917462(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2740G>A |
| AA Mutation |
p.Val914Met(p.V914M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000437043 |
| Start |
96892406:96892406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200808443
|
| CDS Mutation |
c.1078G>A |
| AA Mutation |
p.Asp360Asn(p.D360N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000437043 |
| Start |
96896809:96896809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1449G>T |
| AA Mutation |
p.Lys483Asn(p.K483N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000437043 |
| Start |
96913457:96913457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2657A>C |
| AA Mutation |
p.Lys886Thr(p.K886T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000437043 |
| Start |
96879799:96879799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.114C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|