| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394936 |
| Start |
71819538:71819538(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1277delA |
| AA Mutation |
p.Asn426ThrfsTer37(p.N426Tfs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000394936 |
| Start |
71820239:71820239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113365744
|
| CDS Mutation |
c.1005+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000394936 |
| Start |
71820247:71820249(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs751974432
|
| CDS Mutation |
c.996_998delCAA |
| AA Mutation |
p.Asn332del(p.N332del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PSAP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394936 |
| Start |
71828039:71828039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147265566
|
| CDS Mutation |
c.695G>A |
| AA Mutation |
p.Arg232His(p.R232H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|