| Mutation ID |
36 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257290 |
| Start |
54278469:54278469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2110G>T |
| AA Mutation |
p.Glu704Ter(p.E704*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54274840:54274840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1654-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDGFRA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54278393:54278393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2034C>A |
| AA Mutation |
p.Phe678Leu(p.F678L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54272475:54272475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143344944
|
| CDS Mutation |
c.1319C>T |
| AA Mutation |
p.Thr440Met(p.T440M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54267394:54267394(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.865G>A |
| AA Mutation |
p.Glu289Lys(p.E289K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54280469:54280469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2310G>T |
| AA Mutation |
p.Lys770Asn(p.K770N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54288847:54288847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2723A>C |
| AA Mutation |
p.Lys908Thr(p.K908T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54274597:54274597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1625T>G |
| AA Mutation |
p.Leu542Arg(p.L542R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54278400:54278400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2041G>T |
| AA Mutation |
p.Asp681Tyr(p.D681Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54285942:54285942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370355869
|
| CDS Mutation |
c.2541G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54261153:54261153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.108A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54270729:54270729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1218T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54277479:54277479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1878G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|