| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000318948 |
| Start |
14967445:14967445(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.748delA |
| AA Mutation |
p.Arg250GlyfsTer17(p.R250Gfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000318948 |
| Start |
14966008:14966009(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2184dupA |
| AA Mutation |
p.Glu729ArgfsTer8(p.E729Rfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NRIP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318948 |
| Start |
14965657:14965657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2536C>G |
| AA Mutation |
p.Leu846Val(p.L846V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318948 |
| Start |
14967376:14967376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.817G>A |
| AA Mutation |
p.Glu273Lys(p.E273K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318948 |
| Start |
14967514:14967514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.679A>G |
| AA Mutation |
p.Thr227Ala(p.T227A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318948 |
| Start |
14964851:14964851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201612350
|
| CDS Mutation |
c.3342G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|