| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000382409 |
| Start |
681069:681069(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.891delT |
| AA Mutation |
p.Phe297LeufsTer18(p.F297Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000382409 |
| Start |
686860:686860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.802C>T |
| AA Mutation |
p.Gln268Ter(p.Q268*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DEAF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382409 |
| Start |
691526:691526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.362C>T |
| AA Mutation |
p.Ala121Val(p.A121V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382409 |
| Start |
688447:688447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.401C>T |
| AA Mutation |
p.Ala134Val(p.A134V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000382409 |
| Start |
688019:688019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.556G>T |
| AA Mutation |
p.Glu186Ter(p.E186*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|