| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380036 |
| Start |
27220081:27220081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3136G>T |
| AA Mutation |
p.Glu1046Ter(p.E1046*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000380036 |
| Start |
27190641:27190642(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1440_1441insGCAGATTAGTC |
| AA Mutation |
p.Leu481AlafsTer3(p.L481Afs*3) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TEK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380036 |
| Start |
27192561:27192561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766717660
|
| CDS Mutation |
c.1562G>A |
| AA Mutation |
p.Arg521His(p.R521H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380036 |
| Start |
27183558:27183558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1130T>C |
| AA Mutation |
p.Leu377Pro(p.L377P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380036 |
| Start |
27206732:27206732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2515C>A |
| AA Mutation |
p.Leu839Ile(p.L839I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380036 |
| Start |
27197399:27197399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771377363
|
| CDS Mutation |
c.1709C>T |
| AA Mutation |
p.Ser570Leu(p.S570L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000380036 |
| Start |
27158103:27158103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.325G>T |
| AA Mutation |
p.Glu109Ter(p.E109*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|