| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360906 |
| Start |
32251176:32251176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.688C>T |
| AA Mutation |
p.Gln230Ter(p.Q230*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32224657:32224658(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2890_2891insGAGTACACTTTAT |
| AA Mutation |
p.Leu964ArgfsTer6(p.L964Rfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NLRC4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32251554:32251554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.310G>A |
| AA Mutation |
p.Asp104Asn(p.D104N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32252551:32252551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.130G>A |
| AA Mutation |
p.Glu44Lys(p.E44K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32252470:32252470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.211A>C |
| AA Mutation |
p.Lys71Gln(p.K71Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32224495:32224495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3053C>T |
| AA Mutation |
p.Ala1018Val(p.A1018V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32249804:32249804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2060C>T |
| AA Mutation |
p.Ala687Val(p.A687V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32250639:32250639(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144123569
|
| CDS Mutation |
c.1225G>A |
| AA Mutation |
p.Glu409Lys(p.E409K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32250172:32250172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1692G>T |
| AA Mutation |
p.Glu564Asp(p.E564D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360906 |
| Start |
32251322:32251322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.542G>A |
| AA Mutation |
p.Arg181Gln(p.R181Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360906 |
| Start |
32224622:32224622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2926G>T |
| AA Mutation |
p.Glu976Ter(p.E976*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|