| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000242786 |
| Start |
14407947:14407947(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2421delG |
| AA Mutation |
p.Ser808AlafsTer107(p.S808Afs*107) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000242786 |
| Start |
14397937:14397937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.819+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADGRE5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242786 |
| Start |
14405785:14405785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1667C>T |
| AA Mutation |
p.Ala556Val(p.A556V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242786 |
| Start |
14397899:14397899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.783C>A |
| AA Mutation |
p.Phe261Leu(p.F261L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242786 |
| Start |
14406957:14406957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780589696
|
| CDS Mutation |
c.2204C>T |
| AA Mutation |
p.Ala735Val(p.A735V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242786 |
| Start |
14402686:14402686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772157605
|
| CDS Mutation |
c.1273G>A |
| AA Mutation |
p.Glu425Lys(p.E425K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|