| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77901132:77901132(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs769735757
|
| CDS Mutation |
c.877delT |
| AA Mutation |
p.Tyr293IlefsTer3(p.Y293Ifs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334286 |
| Start |
77903200:77903200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104894390
|
| CDS Mutation |
c.757C>T |
| AA Mutation |
p.Arg253Ter(p.R253*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EDNRB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77900561:77900561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1045C>G |
| AA Mutation |
p.Leu349Val(p.L349V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77918344:77918344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.230C>T |
| AA Mutation |
p.Thr77Met(p.T77M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77918279:77918279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768598369
|
| CDS Mutation |
c.295A>C |
| AA Mutation |
p.Thr99Pro(p.T99P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77900572:77900572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1034T>C |
| AA Mutation |
p.Leu345Pro(p.L345P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77900561:77900561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1045C>A |
| AA Mutation |
p.Leu349Ile(p.L349I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77901133:77901133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.876T>G |
| AA Mutation |
p.Phe292Leu(p.F292L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77918176:77918176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.398G>A |
| AA Mutation |
p.Arg133Gln(p.R133Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334286 |
| Start |
77899874:77899874(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1179C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|