| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257934 |
| Start |
53286668:53286669(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3932_3933delAG |
| AA Mutation |
p.Gln1311ArgfsTer21(p.Q1311Rfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257934 |
| Start |
53269987:53269987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.Arg349Ter(p.R349*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ESPL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257934 |
| Start |
53290132:53290132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149892921
|
| CDS Mutation |
c.5161G>A |
| AA Mutation |
p.Val1721Met(p.V1721M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257934 |
| Start |
53276653:53276653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144474323
|
| CDS Mutation |
c.1734G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257934 |
| Start |
53270758:53270758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1329C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|