| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357428 |
| Start |
77739279:77739279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.430G>T |
| AA Mutation |
p.Glu144Ter(p.E144*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000357428 |
| Start |
77736151:77736152(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.451_452insTATGGTTTTCTAAAG |
| AA Mutation |
p.Lys151delinsIleTrpPheSerLysGlu(p.K151delinsIWFSKE) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> USP33
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357428 |
| Start |
77741742:77741742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749373760
|
| CDS Mutation |
c.49C>T |
| AA Mutation |
p.Pro17Ser(p.P17S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357428 |
| Start |
77728573:77728573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.950A>C |
| AA Mutation |
p.Asp317Ala(p.D317A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357428 |
| Start |
77715829:77715829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2051A>C |
| AA Mutation |
p.Asn684Thr(p.N684T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357428 |
| Start |
77741721:77741721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.70A>G |
| AA Mutation |
p.Lys24Glu(p.K24E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357428 |
| Start |
77711835:77711835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2411T>C |
| AA Mutation |
p.Val804Ala(p.V804A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|