| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000256646 |
| Start |
119922359:119922360(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5089dupG |
| AA Mutation |
p.Val1697GlyfsTer9(p.V1697Gfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000256646 |
| Start |
120005552:120005553(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.191_192insGGG |
| AA Mutation |
p.His64delinsGlnGly(p.H64delinsQG) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NOTCH2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256646 |
| Start |
119916246:119916246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755184344
|
| CDS Mutation |
c.6476C>T |
| AA Mutation |
p.Thr2159Met(p.T2159M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256646 |
| Start |
119955131:119955131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782066959
|
| CDS Mutation |
c.2128G>A |
| AA Mutation |
p.Glu710Lys(p.E710K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256646 |
| Start |
119919409:119919409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201996575
|
| CDS Mutation |
c.5684G>A |
| AA Mutation |
p.Arg1895His(p.R1895H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256646 |
| Start |
119920255:119920255(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5453T>G |
| AA Mutation |
p.Val1818Gly(p.V1818G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256646 |
| Start |
119922678:119922678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4960G>A |
| AA Mutation |
p.Ala1654Thr(p.A1654T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256646 |
| Start |
119916304:119916304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6418C>T |
| AA Mutation |
p.Gln2140Ter(p.Q2140*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256646 |
| Start |
119920352:119920352(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5356C>T |
| AA Mutation |
p.Arg1786Ter(p.R1786*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256646 |
| Start |
119916616:119916616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6106C>T |
| AA Mutation |
p.Arg2036Ter(p.R2036*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|