| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000253861 |
| Start |
133475455:133475456(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1316dupA |
| AA Mutation |
p.Asn439LysfsTer28(p.N439Kfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000253861 |
| Start |
133938070:133938070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2206+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EXOC4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253861 |
| Start |
133480054:133480054(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1333G>A |
| AA Mutation |
p.Glu445Lys(p.E445K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253861 |
| Start |
133997498:133997498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2213C>A |
| AA Mutation |
p.Ser738Tyr(p.S738Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253861 |
| Start |
133317354:133317354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372024692
|
| CDS Mutation |
c.727G>A |
| AA Mutation |
p.Asp243Asn(p.D243N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000253861 |
| Start |
133275116:133275116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775034999
|
| CDS Mutation |
c.221G>A |
| AA Mutation |
p.Arg74His(p.R74H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000253861 |
| Start |
133288975:133288975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765708247
|
| CDS Mutation |
c.330G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000253861 |
| Start |
133356368:133356368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802G>T |
| AA Mutation |
p.Glu268Ter(p.E268*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|