| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297788 |
| Start |
128815705:128815705(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs761237807
|
| CDS Mutation |
c.3143delA |
| AA Mutation |
p.Lys1048SerfsTer3(p.K1048Sfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000297788 |
| Start |
128792429:128792429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.16+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CCDC136
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297788 |
| Start |
128817836:128817836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3442T>C |
| AA Mutation |
p.Trp1148Arg(p.W1148R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297788 |
| Start |
128807370:128807370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774739139
|
| CDS Mutation |
c.1430C>T |
| AA Mutation |
p.Thr477Met(p.T477M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297788 |
| Start |
128812918:128812918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs540834725
|
| CDS Mutation |
c.2752G>A |
| AA Mutation |
p.Asp918Asn(p.D918N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297788 |
| Start |
128811908:128811908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2137C>T |
| AA Mutation |
p.Arg713Trp(p.R713W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297788 |
| Start |
128806303:128806303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1156A>G |
| AA Mutation |
p.Asn386Asp(p.N386D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297788 |
| Start |
128801236:128801236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.397G>T |
| AA Mutation |
p.Glu133Ter(p.E133*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|