| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000337774 |
| Start |
187253276:187253276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.784G>T |
| AA Mutation |
p.Glu262Ter(p.E262*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000337774 |
| Start |
187220072:187220072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2099G>T |
| AA Mutation |
p.Ter700LeuextTer94(p.*700Lext*94) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MASP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337774 |
| Start |
187260801:187260801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115241263
|
| CDS Mutation |
c.487G>A |
| AA Mutation |
p.Gly163Ser(p.G163S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337774 |
| Start |
187285964:187285964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.98C>T |
| AA Mutation |
p.Ser33Leu(p.S33L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337774 |
| Start |
187285880:187285880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.182A>G |
| AA Mutation |
p.Tyr61Cys(p.Y61C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337774 |
| Start |
187225468:187225468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1597C>A |
| AA Mutation |
p.Leu533Ile(p.L533I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000337774 |
| Start |
187260865:187260865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764740497
|
| CDS Mutation |
c.423C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|