| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33337147:33337147(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1300delT |
| AA Mutation |
p.Cys434AlafsTer13(p.C434Afs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33287476:33287479(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1066_1069delTGTT |
| AA Mutation |
p.Cys356GlnfsTer24(p.C356Qfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HIPK3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33339459:33339459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1538G>T |
| AA Mutation |
p.Arg513Ile(p.R513I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33287329:33287329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.915A>C |
| AA Mutation |
p.Gln305His(p.Q305H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33338809:33338809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1394A>C |
| AA Mutation |
p.Lys465Thr(p.K465T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000303296 |
| Start |
33348567:33348567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2415T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|