| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114680952:114680953(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.583dupG |
| AA Mutation |
p.Glu195GlyfsTer32(p.E195Gfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114676471:114676471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.942-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TBX3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114679944:114679944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs554364556
|
| CDS Mutation |
c.686C>T |
| AA Mutation |
p.Thr229Met(p.T229M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114682882:114682882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.319C>A |
| AA Mutation |
p.Leu107Met(p.L107M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114681025:114681025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.511A>C |
| AA Mutation |
p.Met171Leu(p.M171L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257566 |
| Start |
114674300:114674300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1635G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257566 |
| Start |
114682912:114682912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.289G>T |
| AA Mutation |
p.Glu97Ter(p.E97*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|