| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5139580:5139580(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1408delC |
| AA Mutation |
p.His470IlefsTer36(p.H470Ifs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5162911:5162912(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2947dupG |
| AA Mutation |
p.Glu983GlyfsTer34(p.E983Gfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5148651:5148651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2527A>G |
| AA Mutation |
p.Thr843Ala(p.T843A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5167957:5167957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3062A>G |
| AA Mutation |
p.Glu1021Gly(p.E1021G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5130660:5130660(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757415174
|
| CDS Mutation |
c.131G>A |
| AA Mutation |
p.Ser44Asn(p.S44N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5170641:5170641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3680C>T |
| AA Mutation |
p.Ala1227Val(p.A1227V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5142085:5142085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1656C>A |
| AA Mutation |
p.Asn552Lys(p.N552K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000250066 |
| Start |
5138233:5138233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148093961
|
| CDS Mutation |
c.1038G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000250066 |
| Start |
5170505:5170505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3544G>T |
| AA Mutation |
p.Gly1182Ter(p.G1182*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|