| Mutation ID |
15 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000288266 |
| Start |
57260116:57260116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1659-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000288266 |
| Start |
57253740:57253740(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1152+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> APPL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288266 |
| Start |
57269559:57269559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2002C>T |
| AA Mutation |
p.Arg668Trp(p.R668W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000288266 |
| Start |
57242893:57242893(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs749401724
|
| CDS Mutation |
c.460delA |
| AA Mutation |
p.Arg154GlufsTer6(p.R154Efs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000288266 |
| Start |
57268482:57268482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1978G>T |
| AA Mutation |
p.Glu660Ter(p.E660*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|