| Mutation ID |
28 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113803796:113803796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765507857
|
| CDS Mutation |
c.2738+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000003302 |
| Start |
113833541:113833543(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.636_638delCAT |
| AA Mutation |
p.Ile212del(p.I212del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP28
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113801536:113801536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3005C>T |
| AA Mutation |
p.Ala1002Val(p.A1002V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113833439:113833439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201964074
|
| CDS Mutation |
c.740G>A |
| AA Mutation |
p.Arg247Gln(p.R247Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113805046:113805046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2401G>T |
| AA Mutation |
p.Ala801Ser(p.A801S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113808359:113808359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2243A>G |
| AA Mutation |
p.Gln748Arg(p.Q748R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113799337:113799337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3137C>A |
| AA Mutation |
p.Pro1046His(p.P1046H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113834260:113834260(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.610C>G |
| AA Mutation |
p.Arg204Gly(p.R204G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113840628:113840628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765490112
|
| CDS Mutation |
c.504C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000003302 |
| Start |
113804721:113804721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769702994
|
| CDS Mutation |
c.2610G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000003302 |
| Start |
113834260:113834260(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770378434
|
| CDS Mutation |
c.610C>T |
| AA Mutation |
p.Arg204Ter(p.R204*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000003302 |
| Start |
113809183:113809183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2044C>T |
| AA Mutation |
p.Gln682Ter(p.Q682*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000003302 |
| Start |
113834311:113834311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.559C>T |
| AA Mutation |
p.Arg187Ter(p.R187*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|