| Mutation ID |
20 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99850899:99850899(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-69+1delG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99881540:99881540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2158-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AGL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99916710:99916710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs185681971
|
| CDS Mutation |
c.4460G>A |
| AA Mutation |
p.Arg1487Gln(p.R1487Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99864396:99864396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.471G>T |
| AA Mutation |
p.Met157Ile(p.M157I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000294724 |
| Start |
99913603:99913603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764186886
|
| CDS Mutation |
c.4026C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|