| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264808 |
| Start |
120816543:120816543(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.775delG |
| AA Mutation |
p.Asp259MetfsTer15(p.D259Mfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264808 |
| Start |
120818411:120818411(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592G>T |
| AA Mutation |
p.Glu198Ter(p.E198*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRDM5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264808 |
| Start |
120811374:120811374(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.941G>C |
| AA Mutation |
p.Arg314Thr(p.R314T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000264808 |
| Start |
120785000:120785000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1280A>C |
| AA Mutation |
p.Asn427Thr(p.N427T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264808 |
| Start |
120798404:120798404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762388957
|
| CDS Mutation |
c.1051G>A |
| AA Mutation |
p.Glu351Lys(p.E351K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000264808 |
| Start |
120816572:120816572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.746T>G |
| AA Mutation |
p.Phe249Cys(p.F249C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264808 |
| Start |
120811439:120811439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.876G>T |
| AA Mutation |
p.Lys292Asn(p.K292N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264808 |
| Start |
120777269:120777269(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1456G>T |
| AA Mutation |
p.Glu486Ter(p.E486*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000264808 |
| Start |
120777282:120777282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1444-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|