| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000254657 |
| Start |
238258568:238258568(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1704delC |
| AA Mutation |
p.Glu569ArgfsTer35(p.E569Rfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000254657 |
| Start |
238253111:238253111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2912C>A |
| AA Mutation |
p.Ser971Ter(p.S971*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PER2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254657 |
| Start |
238253696:238253696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2327C>A |
| AA Mutation |
p.Pro776His(p.P776H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254657 |
| Start |
238262306:238262306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755886185
|
| CDS Mutation |
c.1192A>G |
| AA Mutation |
p.Ile398Val(p.I398V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254657 |
| Start |
238252922:238252922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3101C>G |
| AA Mutation |
p.Ala1034Gly(p.A1034G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|