| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000164640 |
| Start |
153803541:153803541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2122G>T |
| AA Mutation |
p.Glu708Ter(p.E708*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000164640 |
| Start |
153803861:153803862(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1801dupC |
| AA Mutation |
p.Leu601ProfsTer18(p.L601Pfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDZD4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000164640 |
| Start |
153805123:153805123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.736A>G |
| AA Mutation |
p.Lys246Glu(p.K246E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000164640 |
| Start |
153808359:153808359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.296+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|