| Mutation ID |
46 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260766 |
| Start |
94031253:94031254(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.207_208insGA |
| AA Mutation |
p.Pro70AspfsTer7(p.P70Dfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
47 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000260766 |
| Start |
94031254:94031255(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.208_209insTAACA |
| AA Mutation |
p.Pro70LeufsTer8(p.P70Lfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLCE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260766 |
| Start |
94234139:94234139(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2041C>T |
| AA Mutation |
p.His681Tyr(p.H681Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260766 |
| Start |
94279798:94279798(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4682C>A |
| AA Mutation |
p.Ser1561Tyr(p.S1561Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260766 |
| Start |
94246136:94246136(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772089398
|
| CDS Mutation |
c.2611G>A |
| AA Mutation |
p.Asp871Asn(p.D871N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260766 |
| Start |
94031727:94031727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.681G>T |
| AA Mutation |
p.Lys227Asn(p.K227N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260766 |
| Start |
94284872:94284872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4942G>T |
| AA Mutation |
p.Glu1648Ter(p.E1648*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260766 |
| Start |
94308601:94308601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770255322
|
| CDS Mutation |
c.5905C>T |
| AA Mutation |
p.Arg1969Ter(p.R1969*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|