| Mutation ID |
32 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247584 |
| Start |
41582934:41582934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1864G>T |
| AA Mutation |
p.Glu622Ter(p.E622*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247584 |
| Start |
41582800:41582800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1998C>A |
| AA Mutation |
p.Cys666Ter(p.C666*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HIVEP3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41518464:41518464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5408C>T |
| AA Mutation |
p.Ser1803Leu(p.S1803L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41582073:41582073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2725C>T |
| AA Mutation |
p.Arg909Cys(p.R909C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41518446:41518446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5426A>T |
| AA Mutation |
p.Lys1809Met(p.K1809M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41581796:41581796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3002A>G |
| AA Mutation |
p.His1001Arg(p.H1001R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41582905:41582905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1893G>T |
| AA Mutation |
p.Lys631Asn(p.K631N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41524834:41524834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5284C>T |
| AA Mutation |
p.Arg1762Cys(p.R1762C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41583009:41583009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1789T>G |
| AA Mutation |
p.Leu597Val(p.L597V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41580303:41580303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4495C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41583607:41583607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201683736
|
| CDS Mutation |
c.1191C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41579917:41579917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138363884
|
| CDS Mutation |
c.4881C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41581144:41581144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3654G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247584 |
| Start |
41575552:41575552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764981610
|
| CDS Mutation |
c.5199C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|