Primary Site >> Biliary tract Cancer

Gene >> PBRM1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000296302
Start 52609643:52609643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2237A>G
AA Mutation p.Tyr746Cys(p.Y746C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000296302
Start 52678508:52678517(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.219_228delTAGGGCACCA
AA Mutation p.Arg74SerfsTer18(p.R74Sfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000296302
Start 52563283:52563292(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4077_4086delACCCCCACAG
AA Mutation p.Pro1360LeufsTer21(p.P1360Lfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000296302
Start 52617318:52617318(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1762G>T
AA Mutation p.Glu588Ter(p.E588*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000296302
Start 52627346:52627346(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1468A>T
AA Mutation p.Arg490Ter(p.R490*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000296302
Start 52617480:52617480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1600C>T
AA Mutation p.Arg534Ter(p.R534*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000296302
Start 52628923:52628923(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1414C>T
AA Mutation p.Arg472Ter(p.R472*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000296302
Start 52644774:52644774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.829A>T
AA Mutation p.Lys277Ter(p.K277*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence inframe_deletion
Transcription ID ENST00000296302
Start 52586633:52586650(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3162_3179delGGATGTTTTTGTCTGTGA
AA Mutation p.Asp1055_Glu1060del(p.D1055_E1060del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 10
Mutation Consequence inframe_insertion
Transcription ID ENST00000296302
Start 52587422:52587423(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3053_3054insATT
AA Mutation p.Val1017_Phe1018insLeu(p.V1017_F1018insL)
Mutation Classification In_Frame_Ins
Feature Type Transcript