| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000539517 |
| Start |
26448801:26448801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.682G>T |
| AA Mutation |
p.Glu228Ter(p.E228*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26480065:26480066(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.358dupA |
| AA Mutation |
p.Ile120AsnfsTer24(p.I120Nfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NOVA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26479988:26479988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.436C>T |
| AA Mutation |
p.Arg146Cys(p.R146C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26472378:26472378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.461C>A |
| AA Mutation |
p.Ser154Tyr(p.S154Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26448074:26448074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746531696
|
| CDS Mutation |
c.1409G>A |
| AA Mutation |
p.Arg470Gln(p.R470Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26595449:26595449(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.241G>T |
| AA Mutation |
p.Ala81Ser(p.A81S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26472341:26472341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.498G>T |
| AA Mutation |
p.Met166Ile(p.M166I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26597362:26597362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.75G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26595414:26595414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.276C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000539517 |
| Start |
26448622:26448623(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.860_861insCT |
| AA Mutation |
p.Leu288CysfsTer3(p.L288Cfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|