| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257555 |
| Start |
120997658:120997658(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1498delC |
| AA Mutation |
p.His500ThrfsTer31(p.H500Tfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257555 |
| Start |
120993678:120993678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769086289
|
| CDS Mutation |
c.685C>T |
| AA Mutation |
p.Arg229Ter(p.R229*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HNF1A
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257555 |
| Start |
120996398:120996398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1092T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|