| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389362 |
| Start |
11393524:11393524(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs781275296
|
| CDS Mutation |
c.554delC |
| AA Mutation |
p.Pro185HisfsTer246(p.P185Hfs*246) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000389362 |
| Start |
11394531:11394531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.65-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PRB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389362 |
| Start |
11392918:11392918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1160A>C |
| AA Mutation |
p.Asn387Thr(p.N387T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389362 |
| Start |
11393506:11393506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768807460
|
| CDS Mutation |
c.572C>T |
| AA Mutation |
p.Pro191Leu(p.P191L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|