| Mutation ID |
16 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000579534 |
| Start |
54273968:54273969(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.284_285insATTTAAAGATAT |
| AA Mutation |
p.Ala95_Arg96insPheLysAspIle(p.A95_R96insFKDI) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000579534 |
| Start |
54282931:54282932(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.891_892insATGCATACAATG |
| AA Mutation |
p.Glu297_Leu298insMetHisThrMet(p.E297_L298insMHTM) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> POLI
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000579534 |
| Start |
54287331:54287331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1118G>A |
| AA Mutation |
p.Arg373Gln(p.R373Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000579534 |
| Start |
54271417:54271417(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.173T>A |
| AA Mutation |
p.Val58Glu(p.V58E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000579534 |
| Start |
54294334:54294334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766146034
|
| CDS Mutation |
c.2090C>A |
| AA Mutation |
p.Ser697Tyr(p.S697Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|