| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000241436 |
| Start |
75598007:75598007(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2607delT |
| AA Mutation |
p.Phe869LeufsTer5(p.F869Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000241436 |
| Start |
75547110:75547110(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.88G>T |
| AA Mutation |
p.Gly30Ter(p.G30*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POLK
| Mutation ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000241436 |
| Start |
75596538:75596538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1845T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000241436 |
| Start |
75596229:75596229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1536G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000241436 |
| Start |
75597137:75597138(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2444_2445insATATTCATTTTTTTTCTTTTGAGTTTCATTTGTGGGTCATTTC |
| AA Mutation |
p.Phe815LeufsTer8(p.F815Lfs*8) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000241436 |
| Start |
75598016:75598016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2611T>G |
| AA Mutation |
p.Ter871GluextTer11(p.*871Eext*11) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
|