| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000393158 |
| Start |
104000067:104000067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.313G>T |
| AA Mutation |
p.Glu105Ter(p.E105*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393158 |
| Start |
103943583:103943584(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.640dupA |
| AA Mutation |
p.Ile214AsnfsTer5(p.I214Nfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDGFD
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393158 |
| Start |
103996220:103996220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.355A>C |
| AA Mutation |
p.Ile119Leu(p.I119L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393158 |
| Start |
103996072:103996072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.503C>A |
| AA Mutation |
p.Ser168Tyr(p.S168Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393158 |
| Start |
104000074:104000074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.306G>T |
| AA Mutation |
p.Glu102Asp(p.E102D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000393158 |
| Start |
103943485:103943485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775015662
|
| CDS Mutation |
c.739C>T |
| AA Mutation |
p.Arg247Ter(p.R247*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|