| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000223357 |
| Start |
44104878:44104878(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs112298043
|
| CDS Mutation |
c.218delG |
| AA Mutation |
p.Gly73AlafsTer219(p.G73Afs*219) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000223357 |
| Start |
44113845:44113845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3061C>T |
| AA Mutation |
p.Arg1021Ter(p.R1021*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AEBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223357 |
| Start |
44106770:44106770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.478G>A |
| AA Mutation |
p.Ala160Thr(p.A160T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223357 |
| Start |
44109294:44109294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs75175945
|
| CDS Mutation |
c.1103G>A |
| AA Mutation |
p.Arg368Gln(p.R368Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223357 |
| Start |
44112768:44112768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2428G>A |
| AA Mutation |
p.Ala810Thr(p.A810T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000223357 |
| Start |
44113653:44113653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2869G>A |
| AA Mutation |
p.Ala957Thr(p.A957T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000223357 |
| Start |
44113670:44113670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2886G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|