| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368491 |
| Start |
118566131:118566131(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs776770568
|
| CDS Mutation |
c.418delG |
| AA Mutation |
p.Glu140SerfsTer6(p.E140Sfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368491 |
| Start |
118465485:118465485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2338C>T |
| AA Mutation |
p.Arg780Ter(p.R780*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CEP85L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368491 |
| Start |
118481862:118481862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1662G>T |
| AA Mutation |
p.Glu554Asp(p.E554D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368491 |
| Start |
118632536:118632536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371962633
|
| CDS Mutation |
c.149G>A |
| AA Mutation |
p.Arg50Gln(p.R50Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368491 |
| Start |
118481871:118481871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1653A>T |
| AA Mutation |
p.Lys551Asn(p.K551N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368491 |
| Start |
118566305:118566305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.244T>C |
| AA Mutation |
p.Ser82Pro(p.S82P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368491 |
| Start |
118465509:118465509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2314A>C |
| AA Mutation |
p.Lys772Gln(p.K772Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368491 |
| Start |
118481847:118481847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1677T>A |
| AA Mutation |
p.Cys559Ter(p.C559*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|