| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9395586:9395587(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1479dupA |
| AA Mutation |
p.Glu494ArgfsTer4(p.E494Rfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9337208:9337208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.165+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLCB4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9478966:9478966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3505C>T |
| AA Mutation |
p.Arg1169Cys(p.R1169C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9419845:9419845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2054G>A |
| AA Mutation |
p.Arg685Gln(p.R685Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9421410:9421410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2232G>T |
| AA Mutation |
p.Met744Ile(p.M744I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9457430:9457430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199973230
|
| CDS Mutation |
c.2977G>A |
| AA Mutation |
p.Glu993Lys(p.E993K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9437065:9437065(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375191340
|
| CDS Mutation |
c.2641G>A |
| AA Mutation |
p.Ala881Thr(p.A881T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000278655 |
| Start |
9421314:9421314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2136C>A |
| AA Mutation |
p.Phe712Leu(p.F712L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000278655 |
| Start |
9384287:9384287(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.940G>T |
| AA Mutation |
p.Glu314Ter(p.E314*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000278655 |
| Start |
9371252:9371253(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.544_564dupATCTTTCAAGCACTCAAGGAG |
| AA Mutation |
p.Ile182_Glu188dup(p.I182_E188dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|