| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000315480 |
| Start |
129868269:129868269(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.955C>T |
| AA Mutation |
p.Arg319Ter(p.R319*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000315480 |
| Start |
129879572:129879572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2513-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP20
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315480 |
| Start |
129865367:129865367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.676G>A |
| AA Mutation |
p.Gly226Ser(p.G226S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315480 |
| Start |
129868195:129868195(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.881A>T |
| AA Mutation |
p.Glu294Val(p.E294V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315480 |
| Start |
129868023:129868023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765839692
|
| CDS Mutation |
c.709C>T |
| AA Mutation |
p.Arg237Cys(p.R237C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000315480 |
| Start |
129858077:129858077(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.163G>T |
| AA Mutation |
p.Glu55Ter(p.E55*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|