| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377122 |
| Start |
20785849:20785849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201105598
|
| CDS Mutation |
c.2943C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377122 |
| Start |
20840801:20840801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1276G>T |
| AA Mutation |
p.Glu426Ter(p.E426*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NEBL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377122 |
| Start |
20850492:20850492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1019A>C |
| AA Mutation |
p.Lys340Thr(p.K340T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377122 |
| Start |
20785887:20785887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2905G>A |
| AA Mutation |
p.Asp969Asn(p.D969N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377122 |
| Start |
20809860:20809860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769413446
|
| CDS Mutation |
c.2557G>A |
| AA Mutation |
p.Asp853Asn(p.D853N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377122 |
| Start |
20850497:20850497(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1014A>C |
| AA Mutation |
p.Lys338Asn(p.K338N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377122 |
| Start |
20845284:20845284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1201A>C |
| AA Mutation |
p.Lys401Gln(p.K401Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377122 |
| Start |
20835581:20835581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1381G>T |
| AA Mutation |
p.Gly461Ter(p.G461*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000377122 |
| Start |
20888099:20888099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.367G>T |
| AA Mutation |
p.Glu123Ter(p.E123*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|