Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ECHDC1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000531967
Start 127316456:127316456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.428T>G
AA Mutation p.Phe143Cys(p.F143C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000531967
Start 127290200:127290200(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.593G>T
AA Mutation p.Arg198Leu(p.R198L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000531967
Start 127290023:127290023(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201025879
CDS Mutation c.770C>T
AA Mutation p.Pro257Leu(p.P257L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000531967
Start 127330983:127330983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64A>G
AA Mutation p.Lys22Glu(p.K22E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000531967
Start 127316454:127316454(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.430A>G
AA Mutation p.Met144Val(p.M144V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000531967
Start 127290128:127290128(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.665delA
AA Mutation p.Asn222MetfsTer3(p.N222Mfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000531967
Start 127327057:127327057(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.326delA
AA Mutation p.Asn109IlefsTer9(p.N109Ifs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> ECHDC1

Mutation ID 1
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000531967
Start 127331031:127331031(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17-1G>A
Mutation Classification Splice_Site
Feature Type Transcript