Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> JPH1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74315281:74315281(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.719G>A
AA Mutation p.Arg240His(p.R240H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74315570:74315570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.430C>T
AA Mutation p.Arg144Cys(p.R144C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74321011:74321011(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.277C>T
AA Mutation p.Arg93Cys(p.R93C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74244799:74244799(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1635G>T
AA Mutation p.Glu545Asp(p.E545D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74314930:74314930(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1070A>G
AA Mutation p.Asp357Gly(p.D357G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74244959:74244959(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377278223
CDS Mutation c.1475C>T
AA Mutation p.Ala492Val(p.A492V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74315177:74315177(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.823G>A
AA Mutation p.Ala275Thr(p.A275T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000342232
Start 74315271:74315271(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774018490
CDS Mutation c.729G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000342232
Start 74237259:74237259(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777953408
CDS Mutation c.1950C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000342232
Start 74315421:74315421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.579C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000342232
Start 74244760:74244760(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1674C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000342232
Start 74320979:74320979(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.309delC
AA Mutation p.Ala104LeufsTer51(p.A104Lfs*51)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000342232
Start 74315021:74315021(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.979G>T
AA Mutation p.Glu327Ter(p.E327*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> JPH1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74244534:74244534(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1900A>C
AA Mutation p.Asn634His(p.N634H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342232
Start 74315219:74315219(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780428213
CDS Mutation c.781G>A
AA Mutation p.Asp261Asn(p.D261N)
Mutation Classification Missense_Mutation
Feature Type Transcript