| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274289 |
| Start |
58458831:58458832(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.388_389insTTCTC |
| AA Mutation |
p.Glu130ValfsTer4(p.E130Vfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274289 |
| Start |
58458832:58458833(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.387_388insT |
| AA Mutation |
p.Glu130Ter(p.E130*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLK2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274289 |
| Start |
58456074:58456074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148954251
|
| CDS Mutation |
c.1336C>T |
| AA Mutation |
p.Arg446Trp(p.R446W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274289 |
| Start |
58457012:58457012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1089C>A |
| AA Mutation |
p.Phe363Leu(p.F363L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274289 |
| Start |
58459924:58459924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.36C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274289 |
| Start |
58454627:58454627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2014C>T |
| AA Mutation |
p.Arg672Ter(p.R672*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|