| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000399455 |
| Start |
11948043:11948043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3250C>T |
| AA Mutation |
p.Arg1084Ter(p.R1084*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000399455 |
| Start |
11952869:11952869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3772A>T |
| AA Mutation |
p.Lys1258Ter(p.K1258*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP47
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399455 |
| Start |
11936342:11936342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1969C>T |
| AA Mutation |
p.Arg657Cys(p.R657C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399455 |
| Start |
11947998:11947998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3205T>G |
| AA Mutation |
p.Leu1069Val(p.L1069V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399455 |
| Start |
11936420:11936420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2047C>A |
| AA Mutation |
p.Leu683Ile(p.L683I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399455 |
| Start |
11955149:11955149(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766080625
|
| CDS Mutation |
c.3938C>T |
| AA Mutation |
p.Ala1313Val(p.A1313V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399455 |
| Start |
11892035:11892035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.485C>A |
| AA Mutation |
p.Ser162Tyr(p.S162Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399455 |
| Start |
11956110:11956110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374782538
|
| CDS Mutation |
c.4063C>T |
| AA Mutation |
p.Arg1355Cys(p.R1355C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000399455 |
| Start |
11948043:11948043(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3250C>T |
| AA Mutation |
p.Arg1084Ter(p.R1084*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|