| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118902554:118902555(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1188dupA |
| AA Mutation |
p.Glu397ArgfsTer22(p.E397Rfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118908268:118908268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.412+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BCL9L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118907579:118907579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758711667
|
| CDS Mutation |
c.436C>T |
| AA Mutation |
p.Arg146Cys(p.R146C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118902487:118902487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1256G>A |
| AA Mutation |
p.Arg419Gln(p.R419Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118902354:118902354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1389G>T |
| AA Mutation |
p.Lys463Asn(p.K463N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118908643:118908643(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.39delC |
| AA Mutation |
p.Arg14GlyfsTer31(p.R14Gfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118901867:118901867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1876delA |
| AA Mutation |
p.Met626Ter(p.M626*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334801 |
| Start |
118901207:118901207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2536C>T |
| AA Mutation |
p.Gln846Ter(p.Q846*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334801 |
| Start |
118899942:118899943(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs766592330
|
| CDS Mutation |
c.3380dupC |
| AA Mutation |
p.Pro1128ThrfsTer42(p.P1128Tfs*42) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|