| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000283249 |
| Start |
160137719:160137719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1375G>T |
| AA Mutation |
p.Glu459Ter(p.E459*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160137773:160137774(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1320_1321insT |
| AA Mutation |
p.Gly441TrpfsTer51(p.G441Wfs*51) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGB6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160112108:160112108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2073A>T |
| AA Mutation |
p.Lys691Asn(p.K691N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160196418:160196418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.144T>G |
| AA Mutation |
p.Asn48Lys(p.N48K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160196336:160196336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764638718
|
| CDS Mutation |
c.226G>A |
| AA Mutation |
p.Glu76Lys(p.E76K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160196393:160196393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774250804
|
| CDS Mutation |
c.169G>A |
| AA Mutation |
p.Glu57Lys(p.E57K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000283249 |
| Start |
160138148:160138149(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1158_1159insT |
| AA Mutation |
p.Asn387Ter(p.N387*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|