Primary Site >> Liver Cancer

Gene >> CAPN6

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000324068
Start 111247454:111247454(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1657C>A
AA Mutation p.Pro553Thr(p.P553T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000324068
Start 111252312:111252312(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.694A>G
AA Mutation p.Ile232Val(p.I232V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000324068
Start 111248744:111248744(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1309C>T
AA Mutation p.His437Tyr(p.H437Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000324068
Start 111254288:111254288(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.281delA
AA Mutation p.Glu94GlyfsTer42(p.E94Gfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript