| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29516454:29516454(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2202delA |
| AA Mutation |
p.Glu735LysfsTer5(p.E735Kfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29583467:29583468(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1357_1358insATTTAAAACTTTATTAAAGATAA |
| AA Mutation |
p.Leu453HisfsTer6(p.L453Hfs*6) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TMTC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29556990:29556990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141215209
|
| CDS Mutation |
c.1543C>T |
| AA Mutation |
p.Arg515Cys(p.R515C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29556895:29556895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1638G>T |
| AA Mutation |
p.Gln546His(p.Q546H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29536286:29536286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1708T>G |
| AA Mutation |
p.Leu570Val(p.L570V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29751796:29751796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.808C>A |
| AA Mutation |
p.His270Asn(p.H270N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29755834:29755834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.606C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000539277 |
| Start |
29758712:29758712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146162779
|
| CDS Mutation |
c.546G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|