| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379819 |
| Start |
32974500:32974501(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs750145870
|
| CDS Mutation |
c.873dupA |
| AA Mutation |
p.His292ThrfsTer25(p.H292Tfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000379819 |
| Start |
32974548:32974550(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.824_826delTTC |
| AA Mutation |
p.Leu275del(p.L275del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> APTX
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379819 |
| Start |
32984661:32984661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142133683
|
| CDS Mutation |
c.782G>A |
| AA Mutation |
p.Arg261Gln(p.R261Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379819 |
| Start |
32989764:32989774(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.160_170delTGTTCTCGACA |
| AA Mutation |
p.Cys54AlafsTer9(p.C54Afs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|