| Mutation ID |
24 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000454345 |
| Start |
46371724:46371725(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1344_1345insC |
| AA Mutation |
p.Lys449GlnfsTer17(p.K449Qfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000454345 |
| Start |
46378231:46378231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2938+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DGKZ
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454345 |
| Start |
46376539:46376539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2741G>A |
| AA Mutation |
p.Arg914His(p.R914H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000454345 |
| Start |
46376553:46376553(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2755G>A |
| AA Mutation |
p.Asp919Asn(p.D919N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|