| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000396193 |
| Start |
32298697:32298697(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.39delA |
| AA Mutation |
p.Lys13AsnfsTer16(p.K13Nfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31848098:31848098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.852-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDE1C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31823102:31823102(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201423905
|
| CDS Mutation |
c.1553G>A |
| AA Mutation |
p.Arg518Gln(p.R518Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31823165:31823165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1490C>A |
| AA Mutation |
p.Ser497Tyr(p.S497Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31848054:31848054(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.894G>T |
| AA Mutation |
p.Glu298Asp(p.E298D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321453 |
| Start |
31753504:31753504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2010C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321453 |
| Start |
31879156:31879156(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.265G>T |
| AA Mutation |
p.Glu89Ter(p.E89*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|