| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73520941:73520942(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2448_2449delTG |
| AA Mutation |
p.Ala817CysfsTer7(p.A817Cfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73519973:73519983(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2492_2502delGACTTGCCCTG |
| AA Mutation |
p.Arg831ThrfsTer6(p.R831Tfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP54
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73543033:73543033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.474G>T |
| AA Mutation |
p.Met158Ile(p.M158I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73541493:73541493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.707G>A |
| AA Mutation |
p.Arg236His(p.R236H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73526780:73526780(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2061G>T |
| AA Mutation |
p.Arg687Ser(p.R687S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73498927:73498927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4757C>T |
| AA Mutation |
p.Ser1586Phe(p.S1586F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73517577:73517577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2849G>T |
| AA Mutation |
p.Arg950Ile(p.R950I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73517477:73517477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2949G>T |
| AA Mutation |
p.Lys983Asn(p.K983N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339859 |
| Start |
73529770:73529770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199597128
|
| CDS Mutation |
c.1970G>A |
| AA Mutation |
p.Arg657Gln(p.R657Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000339859 |
| Start |
73541710:73541710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.601C>T |
| AA Mutation |
p.Arg201Ter(p.R201*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000339859 |
| Start |
73529906:73529906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1834G>T |
| AA Mutation |
p.Glu612Ter(p.E612*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000339859 |
| Start |
73517278:73517278(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3148G>T |
| AA Mutation |
p.Glu1050Ter(p.E1050*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|