| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7565693:7565694(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.210_211delAG |
| AA Mutation |
p.Arg70SerfsTer20(p.R70Sfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7648385:7648385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1647-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PPFIBP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7549498:7549498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201767093
|
| CDS Mutation |
c.23C>T |
| AA Mutation |
p.Ala8Val(p.A8V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7593180:7593180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769820633
|
| CDS Mutation |
c.328C>T |
| AA Mutation |
p.Arg110Cys(p.R110C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7651800:7651800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2392G>A |
| AA Mutation |
p.Ala798Thr(p.A798T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7642306:7642306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1526G>A |
| AA Mutation |
p.Arg509Lys(p.R509K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7651665:7651665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2257C>T |
| AA Mutation |
p.Pro753Ser(p.P753S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7642306:7642306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1526G>T |
| AA Mutation |
p.Arg509Ile(p.R509I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299492 |
| Start |
7653074:7653074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2487C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299492 |
| Start |
7610402:7610402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.598G>T |
| AA Mutation |
p.Glu200Ter(p.E200*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|