| Mutation ID |
32 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000564138 |
| Start |
81889241:81889241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.835G>T |
| AA Mutation |
p.Glu279Ter(p.E279*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81900747:81900748(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1332dupC |
| AA Mutation |
p.Ser445GlnfsTer12(p.S445Qfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLCG2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81889229:81889229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.823G>T |
| AA Mutation |
p.Asp275Tyr(p.D275Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81938835:81938835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3233G>A |
| AA Mutation |
p.Arg1078Gln(p.R1078Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81893741:81893741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1019C>T |
| AA Mutation |
p.Ser340Leu(p.S340L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81946221:81946221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3528G>T |
| AA Mutation |
p.Glu1176Asp(p.E1176D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81907750:81907750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1533G>T |
| AA Mutation |
p.Gln511His(p.Q511H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81936243:81936243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs568724894
|
| CDS Mutation |
c.2917G>A |
| AA Mutation |
p.Asp973Asn(p.D973N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000564138 |
| Start |
81786099:81786099(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.114delC |
| AA Mutation |
p.Glu39SerfsTer7(p.E39Sfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000564138 |
| Start |
81908431:81908431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1573G>T |
| AA Mutation |
p.Glu525Ter(p.E525*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|