| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375025 |
| Start |
32729349:32729349(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs750690568
|
| CDS Mutation |
c.725delA |
| AA Mutation |
p.Lys242ArgfsTer30(p.K242Rfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000277657 |
| Start |
32567820:32567820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1348G>T |
| AA Mutation |
p.Glu450Ter(p.E450*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CCDC7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375025 |
| Start |
32711626:32711626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.386A>G |
| AA Mutation |
p.Asp129Gly(p.D129G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375025 |
| Start |
32845603:32845603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs181757977
|
| CDS Mutation |
c.1226C>T |
| AA Mutation |
p.Thr409Met(p.T409M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375025 |
| Start |
32876371:32876371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1865C>A |
| AA Mutation |
p.Ser622Tyr(p.S622Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000277657 |
| Start |
32491921:32491921(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.797-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|