| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5508973:5508973(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.586delC |
| AA Mutation |
p.His196IlefsTer5(p.H196Ifs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5509170:5509170(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.389delC |
| AA Mutation |
p.Pro130LeufsTer5(p.P130Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UBQLN3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5509210:5509210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.349C>G |
| AA Mutation |
p.Leu117Val(p.L117V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5509254:5509254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.305G>A |
| AA Mutation |
p.Cys102Tyr(p.C102Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5507758:5507758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1801G>T |
| AA Mutation |
p.Asp601Tyr(p.D601Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5508508:5508508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201503283
|
| CDS Mutation |
c.1051G>A |
| AA Mutation |
p.Glu351Lys(p.E351K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5509088:5509088(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.471G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5508758:5508758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139419565
|
| CDS Mutation |
c.801C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311659 |
| Start |
5508338:5508338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1221C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|