| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000558939 |
| Start |
70060535:70060535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.709C>T |
| AA Mutation |
p.Arg237Ter(p.R237*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000558939 |
| Start |
70058737:70058738(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.843dupA |
| AA Mutation |
p.Asp282ArgfsTer14(p.D282Rfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TLE3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558939 |
| Start |
70054541:70054541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1732G>A |
| AA Mutation |
p.Ala578Thr(p.A578T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558939 |
| Start |
70053351:70053351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1859G>A |
| AA Mutation |
p.Gly620Glu(p.G620E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000558939 |
| Start |
70094576:70094576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.190T>C |
| AA Mutation |
p.Tyr64His(p.Y64H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000558939 |
| Start |
70053275:70053275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1935G>T |
| AA Mutation |
p.Trp645Cys(p.W645C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000558939 |
| Start |
70074532:70074532(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.372+1delG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000558939 |
| Start |
70053315:70053317(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1893_1895delCAA |
| AA Mutation |
p.Lys632del(p.K632del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|