| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358929 |
| Start |
74046710:74046710(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.590delG |
| AA Mutation |
p.Gly197AspfsTer126(p.G197Dfs*126) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000358929 |
| Start |
74036586:74036586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.163+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ELN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358929 |
| Start |
74068693:74068693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2354G>T |
| AA Mutation |
p.Arg785Ile(p.R785I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358929 |
| Start |
74063314:74063314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782389686
|
| CDS Mutation |
c.2049C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|