| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356352 |
| Start |
12035224:12035224(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.200delA |
| AA Mutation |
p.Lys67ArgfsTer14(p.K67Rfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356352 |
| Start |
12028851:12028852(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1038_1039insACTCT |
| AA Mutation |
p.Glu347ThrfsTer12(p.E347Tfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UPF2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356352 |
| Start |
11959253:11959253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776960402
|
| CDS Mutation |
c.2288C>A |
| AA Mutation |
p.Thr763Asn(p.T763N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356352 |
| Start |
12035253:12035253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.171G>T |
| AA Mutation |
p.Lys57Asn(p.K57N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356352 |
| Start |
11929887:11929887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3787C>A |
| AA Mutation |
p.Leu1263Ile(p.L1263I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356352 |
| Start |
11956333:11956333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2561G>A |
| AA Mutation |
p.Arg854Gln(p.R854Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356352 |
| Start |
12001688:12001688(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1642C>A |
| AA Mutation |
p.Leu548Ile(p.L548I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356352 |
| Start |
12035381:12035381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.43G>T |
| AA Mutation |
p.Asp15Tyr(p.D15Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|