| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310118 |
| Start |
184307437:184307437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2115C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310118 |
| Start |
184300301:184300301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.214C>T |
| AA Mutation |
p.Arg72Ter(p.R72*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PSMD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000310118 |
| Start |
184300280:184300280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193G>A |
| AA Mutation |
p.Glu65Lys(p.E65K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310118 |
| Start |
184306827:184306827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2027G>A |
| AA Mutation |
p.Gly676Asp(p.G676D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310118 |
| Start |
184301626:184301626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.447G>T |
| AA Mutation |
p.Glu149Asp(p.E149D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310118 |
| Start |
184300302:184300302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753772505
|
| CDS Mutation |
c.215G>A |
| AA Mutation |
p.Arg72Gln(p.R72Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310118 |
| Start |
184307461:184307461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140661538
|
| CDS Mutation |
c.2139C>A |
| AA Mutation |
p.Phe713Leu(p.F713L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310118 |
| Start |
184303037:184303037(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1044C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|