| Mutation ID |
25 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000381125 |
| Start |
3134582:3134582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2122G>T |
| AA Mutation |
p.Gly708Ter(p.G708*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000381125 |
| Start |
3113118:3113118(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1155-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PFKP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381125 |
| Start |
3133234:3133234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777816568
|
| CDS Mutation |
c.1942G>A |
| AA Mutation |
p.Asp648Asn(p.D648N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381125 |
| Start |
3135740:3135740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2127A>C |
| AA Mutation |
p.Lys709Asn(p.K709N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000381125 |
| Start |
3135736:3135737(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2130dupA |
| AA Mutation |
p.Phe711IlefsTer5(p.F711Ifs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|