Primary Site >> Liver Cancer

Gene >> BCHE

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000264381
Start 165830907:165830907(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.127G>A
AA Mutation p.Gly43Arg(p.G43R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000264381
Start 165830516:165830516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.518A>G
AA Mutation p.Asn173Ser(p.N173S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000264381
Start 165786178:165786178(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1651A>G
AA Mutation p.Thr551Ala(p.T551A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000264381
Start 165830254:165830254(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773199170
CDS Mutation c.780G>A
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000264381
Start 165786306:165786306(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1523delC
AA Mutation p.Pro508GlnfsTer22(p.P508Qfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript