| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23536525:23536525(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1916delA |
| AA Mutation |
p.Lys639SerfsTer77(p.K639Sfs*77) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000451604 |
| Start |
23546373:23546373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1540G>T |
| AA Mutation |
p.Glu514Ter(p.E514*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SOX5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23546420:23546420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1493A>C |
| AA Mutation |
p.Lys498Thr(p.K498T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23563392:23563392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1354G>T |
| AA Mutation |
p.Asp452Tyr(p.D452Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23846100:23846100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.364G>A |
| AA Mutation |
p.Glu122Lys(p.E122K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23604475:23604475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1076G>A |
| AA Mutation |
p.Gly359Asp(p.G359D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23536519:23536519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1922G>A |
| AA Mutation |
p.Arg641His(p.R641H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23755647:23755647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.559G>A |
| AA Mutation |
p.Glu187Lys(p.E187K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23563268:23563268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1478G>T |
| AA Mutation |
p.Arg493Leu(p.R493L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23640818:23640818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1011A>T |
| AA Mutation |
p.Gln337His(p.Q337H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23534327:23534327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138618584
|
| CDS Mutation |
c.2184C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000451604 |
| Start |
23895922:23895922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.141C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|