| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366794 |
| Start |
226379946:226379946(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1519delA |
| AA Mutation |
p.Ser507AlafsTer17(p.S507Afs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366794 |
| Start |
226383118:226383119(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1076dupC |
| AA Mutation |
p.Glu360ArgfsTer29(p.E360Rfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PARP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366794 |
| Start |
226390494:226390494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202057244
|
| CDS Mutation |
c.533C>T |
| AA Mutation |
p.Ala178Val(p.A178V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366794 |
| Start |
226377255:226377255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1794C>G |
| AA Mutation |
p.Ser598Arg(p.S598R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366794 |
| Start |
226386377:226386377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.783G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|