| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32214164:32214165(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2112dupG |
| AA Mutation |
p.Thr705AspfsTer23(p.T705Dfs*23) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000375023 |
| Start |
32223882:32223884(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs35795312
|
| CDS Mutation |
c.45_47delGCT |
| AA Mutation |
p.Leu16del(p.L16del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NOTCH4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32202592:32202592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3239A>G |
| AA Mutation |
p.Glu1080Gly(p.E1080G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32219651:32219651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1451G>A |
| AA Mutation |
p.Cys484Tyr(p.C484Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32216973:32216973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1833C>A |
| AA Mutation |
p.Phe611Leu(p.F611L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32221077:32221077(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.700C>T |
| AA Mutation |
p.Arg234Trp(p.R234W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32223907:32223907(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.22C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32215336:32215336(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755708470
|
| CDS Mutation |
c.1911G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32222764:32222764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.198C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375023 |
| Start |
32202370:32202370(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3461delG |
| AA Mutation |
p.Gly1154AlafsTer150(p.G1154Afs*150) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375023 |
| Start |
32199041:32199041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4420C>T |
| AA Mutation |
p.Arg1474Ter(p.R1474*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|