Primary Site >> Esophagus Cancer

Gene >> MUC13

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000616727
Start 124916451:124916451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777795843
CDS Mutation c.830G>A
AA Mutation p.Arg277His(p.R277H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000616727
Start 124908176:124908176(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1510C>T
AA Mutation p.His504Tyr(p.H504Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000616727
Start 124923552:124923583(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.581_612delCAAGTTTTTGCCTGTGTTTAGAAGGGTATTAC
AA Mutation p.Thr194IlefsTer7(p.T194Ifs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000616727
Start 124913575:124913576(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1067_1070dupAGAG
AA Mutation p.Ser357ArgfsTer14(p.S357Rfs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript