| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367466 |
| Start |
186932793:186932793(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.593delG |
| AA Mutation |
p.Gly198ValfsTer11(p.G198Vfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000367466 |
| Start |
186988489:186988490(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2231_2232insTTTATC |
| AA Mutation |
p.Leu744_Ser745insLeuSer(p.L744_S745insLS) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLA2G4A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367466 |
| Start |
186911345:186911345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.514C>T |
| AA Mutation |
p.Leu172Phe(p.L172F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367466 |
| Start |
186979340:186979340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1986G>T |
| AA Mutation |
p.Glu662Asp(p.E662D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367466 |
| Start |
186950719:186950719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200911298
|
| CDS Mutation |
c.1327G>A |
| AA Mutation |
p.Glu443Lys(p.E443K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367466 |
| Start |
186939984:186939984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.923T>C |
| AA Mutation |
p.Met308Thr(p.M308T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367466 |
| Start |
186932843:186932843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750211032
|
| CDS Mutation |
c.639C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367466 |
| Start |
186894131:186894131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.298G>T |
| AA Mutation |
p.Glu100Ter(p.E100*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|