| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119560315:119560316(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1179dupA |
| AA Mutation |
p.Ser394IlefsTer3(p.S394Ifs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119525696:119525696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1633-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDE5A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119521028:119521028(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1812G>T |
| AA Mutation |
p.Lys604Asn(p.K604N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119507663:119507663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2130G>T |
| AA Mutation |
p.Lys710Asn(p.K710N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119542574:119542574(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773825482
|
| CDS Mutation |
c.1457G>A |
| AA Mutation |
p.Arg486Gln(p.R486Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119562847:119562847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1117G>T |
| AA Mutation |
p.Asp373Tyr(p.D373Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119606961:119606961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.489G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354960 |
| Start |
119505922:119505922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2200G>T |
| AA Mutation |
p.Glu734Ter(p.E734*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000354960 |
| Start |
119565320:119565320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.993+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|