| Mutation ID |
41 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147615903:147615903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.660+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000234739 |
| Start |
147624123:147624125(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3448_3450delCAG |
| AA Mutation |
p.Gln1150del(p.Q1150del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BCL9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147619431:147619431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782764451
|
| CDS Mutation |
c.1276G>A |
| AA Mutation |
p.Val426Met(p.V426M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147619231:147619231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1076G>A |
| AA Mutation |
p.Arg359Gln(p.R359Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147620845:147620845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782580573
|
| CDS Mutation |
c.2690C>T |
| AA Mutation |
p.Ala897Val(p.A897V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147624003:147624003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200659731
|
| CDS Mutation |
c.3325A>G |
| AA Mutation |
p.Met1109Val(p.M1109V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147613059:147613059(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.230C>T |
| AA Mutation |
p.Pro77Leu(p.P77L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147618898:147618898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.743C>A |
| AA Mutation |
p.Ser248Tyr(p.S248Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147618951:147618951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.796A>G |
| AA Mutation |
p.Lys266Glu(p.K266E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147622384:147622387(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3018_3021delCTCT |
| AA Mutation |
p.Ser1007LeufsTer2(p.S1007Lfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147619695:147619695(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs781994033
|
| CDS Mutation |
c.1547delC |
| AA Mutation |
p.Pro516LeufsTer5(p.P516Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147620874:147620875(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2726dupC |
| AA Mutation |
p.Val910CysfsTer42(p.V910Cfs*42) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147619175:147619176(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1026dupC |
| AA Mutation |
p.Thr343HisfsTer34(p.T343Hfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000234739 |
| Start |
147614426:147614426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.371-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|