Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PDZK1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000344770
Start 145682541:145682541(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.556G>A
AA Mutation p.Glu186Lys(p.E186K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000344770
Start 145688015:145688015(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7T>C
AA Mutation p.Ser3Pro(p.S3P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000344770
Start 145671489:145671489(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1507G>A
AA Mutation p.Ala503Thr(p.A503T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000344770
Start 145673686:145673686(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1186C>T
AA Mutation p.Arg396Trp(p.R396W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000344770
Start 145672800:145672800(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1436A>G
AA Mutation p.Asp479Gly(p.D479G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000344770
Start 145678563:145678563(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.876C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000344770
Start 145682630:145682630(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.467delA
AA Mutation p.Lys156ArgfsTer5(p.K156Rfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> PDZK1

Mutation ID 1
Mutation Consequence stop_gained
Transcription ID ENST00000344770
Start 145672936:145672936(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1300G>T
AA Mutation p.Glu434Ter(p.E434*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript