Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CHEK2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28725110:28725110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.459A>C
AA Mutation p.Lys153Asn(p.K153N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28725253:28725253(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587781667
CDS Mutation c.434G>A
AA Mutation p.Arg145Gln(p.R145Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28695776:28695776(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1193C>G
AA Mutation p.Ser398Cys(p.S398C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28696921:28696921(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1075G>A
AA Mutation p.Glu359Lys(p.E359K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000328354
Start 28725107:28725108(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.461dupA
AA Mutation p.Asn154LysfsTer32(p.N154Kfs*32)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 6
Mutation Consequence splice_donor_variant
Transcription ID ENST00000328354
Start 28724975:28724975(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.592+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> CHEK2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000328354
Start 28725292:28725292(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750393263
CDS Mutation c.395G>T
AA Mutation p.Arg132Ile(p.R132I)
Mutation Classification Missense_Mutation
Feature Type Transcript