Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MBL2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000373968
Start 52769262:52769262(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769868112
CDS Mutation c.358G>A
AA Mutation p.Ala120Thr(p.A120T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000373968
Start 52768402:52768402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.482C>A
AA Mutation p.Ser161Tyr(p.S161Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000373968
Start 52768374:52768374(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.510G>T
AA Mutation p.Glu170Asp(p.E170D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000373968
Start 52771510:52771510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.126C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000373968
Start 52770755:52770756(version: GRCh38)
Mutation Type INS
dbSNP_RS rs747467008
CDS Mutation c.218dupC
AA Mutation p.Gly74TrpfsTer31(p.G74Wfs*31)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> MBL2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000373968
Start 52768204:52768204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.680A>C
AA Mutation p.Lys227Thr(p.K227T)
Mutation Classification Missense_Mutation
Feature Type Transcript