Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NOTCH2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 120005382:120005382(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.362G>A
AA Mutation p.Cys121Tyr(p.C121Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119940560:119940560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3178T>G
AA Mutation p.Cys1060Gly(p.C1060G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119929008:119929008(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3860A>G
AA Mutation p.Asp1287Gly(p.D1287G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119935480:119935480(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3647G>A
AA Mutation p.Gly1216Asp(p.G1216D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119929188:119929188(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3680A>G
AA Mutation p.Asp1227Gly(p.D1227G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 120005498:120005498(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.246G>T
AA Mutation p.Gln82His(p.Q82H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119937343:119937343(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367562640
CDS Mutation c.3461C>T
AA Mutation p.Ala1154Val(p.A1154V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119965529:119965529(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1605C>A
AA Mutation p.Asp535Glu(p.D535E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119915364:119915364(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145366664
CDS Mutation c.7358G>A
AA Mutation p.Arg2453Gln(p.R2453Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119969667:119969667(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782230202
CDS Mutation c.952C>T
AA Mutation p.Arg318Cys(p.R318C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119986999:119986999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.835G>A
AA Mutation p.Val279Ile(p.V279I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119940743:119940743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2995G>T
AA Mutation p.Gly999Cys(p.G999C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119919556:119919556(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5537A>G
AA Mutation p.Asp1846Gly(p.D1846G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119918544:119918544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5791C>T
AA Mutation p.Arg1931Cys(p.R1931C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119915929:119915929(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6793A>G
AA Mutation p.Asn2265Asp(p.N2265D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119959495:119959495(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142022032
CDS Mutation c.1923T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119919570:119919570(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762907328
CDS Mutation c.5523C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119963578:119963578(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369028361
CDS Mutation c.1911G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119959402:119959402(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369887251
CDS Mutation c.2016A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119915636:119915636(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150657714
CDS Mutation c.7086C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119923852:119923852(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4644T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119963686:119963686(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377566312
CDS Mutation c.1803C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000256646
Start 119969587:119969587(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782702694
CDS Mutation c.1032C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000256646
Start 119925562:119925562(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4254delC
AA Mutation p.Ser1419AlafsTer8(p.S1419Afs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence frameshift_variant
Transcription ID ENST00000256646
Start 119967577:119967577(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1309delG
AA Mutation p.Asp437MetfsTer9(p.D437Mfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000256646
Start 119937947:119937948(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.3246dupA
AA Mutation p.Ala1083SerfsTer17(p.A1083Sfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000256646
Start 119915812:119915813(version: GRCh38)
Mutation Type INS
dbSNP_RS rs771237928
CDS Mutation c.6909dupC
AA Mutation p.Ile2304HisfsTer9(p.I2304Hfs*9)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
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