| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370459 |
| Start |
89267445:89267445(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.400delA |
| AA Mutation |
p.Ile134LeufsTer12(p.I134Lfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370459 |
| Start |
89266483:89266483(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs759335217
|
| CDS Mutation |
c.731delA |
| AA Mutation |
p.Lys244SerfsTer13(p.K244Sfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GBP5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370459 |
| Start |
89266550:89266550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.664C>A |
| AA Mutation |
p.Leu222Met(p.L222M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370459 |
| Start |
89264707:89264707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149475068
|
| CDS Mutation |
c.1128A>C |
| AA Mutation |
p.Gln376His(p.Q376H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370459 |
| Start |
89269431:89269431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755832842
|
| CDS Mutation |
c.125C>T |
| AA Mutation |
p.Ala42Val(p.A42V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370459 |
| Start |
89260749:89260749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764073054
|
| CDS Mutation |
c.1716C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000370459 |
| Start |
89266345:89266345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140405391
|
| CDS Mutation |
c.868+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|