Primary Site >> Liver Cancer

Gene >> FAM83H

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000388913
Start 143730464:143730464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371078447
CDS Mutation c.119C>T
AA Mutation p.Ser40Leu(p.S40L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000388913
Start 143726477:143726477(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2984A>T
AA Mutation p.Gln995Leu(p.Q995L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000388913
Start 143728584:143728584(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781905219
CDS Mutation c.877C>T
AA Mutation p.Arg293Cys(p.R293C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000388913
Start 143730498:143730498(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85C>T
AA Mutation p.Arg29Cys(p.R29C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000388913
Start 143726555:143726555(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2906T>G
AA Mutation p.Leu969Arg(p.L969R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000388913
Start 143727139:143727139(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566224492
CDS Mutation c.2322G>A
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000388913
Start 143728137:143728137(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1324delC
AA Mutation p.Arg442AlafsTer103(p.R442Afs*103)
Mutation Classification Frame_Shift_Del
Feature Type Transcript