Primary Site >> Liver Cancer

Gene >> AP3B1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000255194
Start 78128080:78128080(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1918C>T
AA Mutation p.Pro640Ser(p.P640S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000255194
Start 78113774:78113774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2227A>G
AA Mutation p.Asn743Asp(p.N743D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000255194
Start 78175838:78175838(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1041G>T
AA Mutation p.Arg347Ser(p.R347S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000255194
Start 78128145:78128145(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1853A>G
AA Mutation p.Gln618Arg(p.Q618R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000255194
Start 78003025:78003025(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772549509
CDS Mutation c.3162A>G
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000255194
Start 78039083:78039083(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2769delA
AA Mutation p.Lys923AsnfsTer4(p.K923Nfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript