Primary Site >> Liver Cancer

Gene >> CCDC8

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000307522
Start 46412429:46412429(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.382C>T
AA Mutation p.Arg128Cys(p.R128C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000307522
Start 46411808:46411808(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1003C>G
AA Mutation p.Gln335Glu(p.Q335E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000307522
Start 46412321:46412321(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.490C>T
AA Mutation p.Pro164Ser(p.P164S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence inframe_deletion
Transcription ID ENST00000307522
Start 46411614:46411685(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1126_1197delAGGTCACAGGGCACAGATAACCACAGGGAAGAGGCTGCAGATAATCAGAGGGCGGAGGCCCCAGCTGACCAG
AA Mutation p.Arg376_Gln399del(p.R376_Q399del)
Mutation Classification In_Frame_Del
Feature Type Transcript