| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000272771 |
| Start |
191999069:191999069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.676C>T |
| AA Mutation |
p.Arg226Ter(p.R226*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000272771 |
| Start |
191999194:191999195(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550_551insCC |
| AA Mutation |
p.Ile184ThrfsTer72(p.I184Tfs*72) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TMEFF2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272771 |
| Start |
191950387:191950387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1049G>T |
| AA Mutation |
p.Arg350Ile(p.R350I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272771 |
| Start |
191953760:191953760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200358691
|
| CDS Mutation |
c.947G>A |
| AA Mutation |
p.Arg316Gln(p.R316Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272771 |
| Start |
191953767:191953767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.940C>T |
| AA Mutation |
p.Pro314Ser(p.P314S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272771 |
| Start |
191999144:191999144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.601T>C |
| AA Mutation |
p.Ser201Pro(p.S201P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000272771 |
| Start |
191999160:191999160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779383447
|
| CDS Mutation |
c.585C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|