Primary Site >> Liver Cancer

Gene >> BRCA2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32340342:32340342(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358834
CDS Mutation c.5987C>G
AA Mutation p.Ala1996Gly(p.A1996G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32362587:32362587(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7870T>A
AA Mutation p.Tyr2624Asn(p.Y2624N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32340575:32340575(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6220C>G
AA Mutation p.His2074Asp(p.H2074D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32338349:32338349(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3994C>T
AA Mutation p.His1332Tyr(p.H1332Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32363379:32363379(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80359064
CDS Mutation c.8177A>G
AA Mutation p.Tyr2726Cys(p.Y2726C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000380152
Start 32398406:32398406(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9893T>G
AA Mutation p.Phe3298Cys(p.F3298C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000380152
Start 32337801:32337822(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3449_3470delCTATCTTAAAGACCACTTCTGA
AA Mutation p.Thr1150ArgfsTer11(p.T1150Rfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence inframe_deletion
Transcription ID ENST00000380152
Start 32379779:32379787(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8983_8991delGATTTATAT
AA Mutation p.Asp2995_Tyr2997del(p.D2995_Y2997del)
Mutation Classification In_Frame_Del
Feature Type Transcript