| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62813814:62813814(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.824delG |
| AA Mutation |
p.Gly275AlafsTer6(p.G275Afs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62813810:62813810(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.828delC |
| AA Mutation |
p.Ser277ValfsTer4(p.S277Vfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EGR2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62813553:62813553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1085G>A |
| AA Mutation |
p.Arg362Gln(p.R362Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62814316:62814316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.322T>C |
| AA Mutation |
p.Tyr108His(p.Y108H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62813869:62813869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.769C>T |
| AA Mutation |
p.Arg257Trp(p.R257W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62814124:62814124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.514C>T |
| AA Mutation |
p.Pro172Ser(p.P172S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62813675:62813675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.963G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62813726:62813726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752399953
|
| CDS Mutation |
c.912C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000242480 |
| Start |
62814137:62814137(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756375039
|
| CDS Mutation |
c.501G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|