| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000255266 |
| Start |
149886360:149886361(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1742dupA |
| AA Mutation |
p.Arg582AlafsTer19(p.R582Afs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000255266 |
| Start |
149934674:149934675(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.518dupA |
| AA Mutation |
p.Thr174AspfsTer24(p.T174Dfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDE6A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255266 |
| Start |
149944464:149944464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.210G>T |
| AA Mutation |
p.Glu70Asp(p.E70D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000255266 |
| Start |
149915007:149915007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.934G>A |
| AA Mutation |
p.Glu312Lys(p.E312K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000255266 |
| Start |
149933980:149933980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.667A>G |
| AA Mutation |
p.Lys223Glu(p.K223E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000255266 |
| Start |
149899471:149899471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199676934
|
| CDS Mutation |
c.1167G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|