| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268124 |
| Start |
89328757:89328757(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs750787511
|
| CDS Mutation |
c.1098delG |
| AA Mutation |
p.Pro367LeufsTer3(p.P367Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268124 |
| Start |
89328990:89328991(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs752172363
|
| CDS Mutation |
c.975dupC |
| AA Mutation |
p.Thr326HisfsTer62(p.T326Hfs*62) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POLG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268124 |
| Start |
89320857:89320857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201477273
|
| CDS Mutation |
c.2890C>T |
| AA Mutation |
p.Arg964Cys(p.R964C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268124 |
| Start |
89328699:89328699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199759055
|
| CDS Mutation |
c.1156C>T |
| AA Mutation |
p.Arg386Cys(p.R386C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268124 |
| Start |
89328987:89328987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.979A>C |
| AA Mutation |
p.Lys327Gln(p.K327Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000268124 |
| Start |
89327214:89327214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1386G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|