| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42662245:42662245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3504T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42659824:42659824(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3416delA |
| AA Mutation |
p.Asn1139ThrfsTer65(p.N1139Tfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UBR2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42603655:42603655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140096365
|
| CDS Mutation |
c.599G>A |
| AA Mutation |
p.Arg200Gln(p.R200Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42679754:42679754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4640G>C |
| AA Mutation |
p.Cys1547Ser(p.C1547S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42606613:42606613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.826G>T |
| AA Mutation |
p.Asp276Tyr(p.D276Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42632682:42632682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1412T>G |
| AA Mutation |
p.Phe471Cys(p.F471C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42691077:42691077(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5172T>G |
| AA Mutation |
p.Ile1724Met(p.I1724M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42644515:42644515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2263T>C |
| AA Mutation |
p.Tyr755His(p.Y755H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42679732:42679732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4618A>G |
| AA Mutation |
p.Thr1540Ala(p.T1540A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000372899 |
| Start |
42658729:42658730(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3147_3148insAGGATCTAGCTATGACTTACCTGGATCTTGAATAAATTTACT |
| AA Mutation |
p.Met1049_Ser1050insArgIleTerLeuTerLeuThrTrpIleLeuAsnLysPheThr(p.M1049_S1050insRI*L*LTWILNKFT) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42594305:42594305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.531+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|