| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94146163:94146163(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1932delG |
| AA Mutation |
p.Ser645LeufsTer3(p.S645Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000027335 |
| Start |
94148772:94148772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1899T>A |
| AA Mutation |
p.Tyr633Ter(p.Y633*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CDH17
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94130704:94130704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199497492
|
| CDS Mutation |
c.2320C>T |
| AA Mutation |
p.Arg774Trp(p.R774W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94165801:94165801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1242T>A |
| AA Mutation |
p.Asp414Glu(p.D414E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94173983:94173983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.597G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94173799:94173799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.781C>T |
| AA Mutation |
p.Gln261Ter(p.Q261*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|