Primary Site >> Biliary tract Cancer

Gene >> BAP1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000460680
Start 52408583:52408583(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.146T>C
AA Mutation p.Leu49Pro(p.L49P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000460680
Start 52407219:52407219(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.535C>T
AA Mutation p.Arg179Trp(p.R179W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000460680
Start 52407981:52407981(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.352T>G
AA Mutation p.Phe118Val(p.F118V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000460680
Start 52403205:52403205(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1823delA
AA Mutation p.Asp608AlafsTer9(p.D608Afs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000460680
Start 52402635:52402651(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2007_2023delCAACTACGATGAGTTCA
AA Mutation p.Asn670LeufsTer41(p.N670Lfs*41)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000460680
Start 52406900:52406900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.588G>A
AA Mutation p.Trp196Ter(p.W196*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000460680
Start 52406291:52406291(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.745A>T
AA Mutation p.Lys249Ter(p.K249*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000460680
Start 52403661:52403662(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1483dupA
AA Mutation p.Thr495AsnfsTer4(p.T495Nfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript