| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360356 |
| Start |
122537047:122537047(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1897delA |
| AA Mutation |
p.Thr633ProfsTer5(p.T633Pfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360356 |
| Start |
122555908:122555908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.368G>A |
| AA Mutation |
p.Trp123Ter(p.W123*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PARP9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360356 |
| Start |
122552464:122552464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1166A>C |
| AA Mutation |
p.Lys389Thr(p.K389T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360356 |
| Start |
122537038:122537038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369798989
|
| CDS Mutation |
c.1906G>A |
| AA Mutation |
p.Glu636Lys(p.E636K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360356 |
| Start |
122556041:122556041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772861803
|
| CDS Mutation |
c.235C>T |
| AA Mutation |
p.Arg79Cys(p.R79C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360356 |
| Start |
122555337:122555337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377456121
|
| CDS Mutation |
c.939C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|