| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394048 |
| Start |
56128614:56128614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.295G>T |
| AA Mutation |
p.Glu99Ter(p.E99*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394048 |
| Start |
56142666:56142667(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2828dupG |
| AA Mutation |
p.Pro944ThrfsTer19(p.P944Tfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ESYT1
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394048 |
| Start |
56143297:56143297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3189C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|