| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000403290 |
| Start |
13376690:13376690(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1381delC |
| AA Mutation |
p.His461ThrfsTer35(p.H461Tfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403290 |
| Start |
13358492:13358492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.280G>T |
| AA Mutation |
p.Glu94Ter(p.E94*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ARNTL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403290 |
| Start |
13354372:13354372(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs79254129
|
| CDS Mutation |
c.64G>A |
| AA Mutation |
p.Asp22Asn(p.D22N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403290 |
| Start |
13375621:13375621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370345058
|
| CDS Mutation |
c.1184C>T |
| AA Mutation |
p.Thr395Met(p.T395M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403290 |
| Start |
13354418:13354418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.110G>A |
| AA Mutation |
p.Arg37His(p.R37H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403290 |
| Start |
13354322:13354322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14G>T |
| AA Mutation |
p.Arg5Ile(p.R5I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000403290 |
| Start |
13375622:13375622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774011209
|
| CDS Mutation |
c.1185G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403290 |
| Start |
13374126:13374126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1099G>T |
| AA Mutation |
p.Glu367Ter(p.E367*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403290 |
| Start |
13375692:13375692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1255C>T |
| AA Mutation |
p.Arg419Ter(p.R419*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|