Primary Site >> Liver Cancer

Gene >> BPTF

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67866505:67866505(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1478A>G
AA Mutation p.Tyr493Cys(p.Y493C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67826236:67826236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.512A>G
AA Mutation p.Asp171Gly(p.D171G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67875575:67875575(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1884T>G
AA Mutation p.Asp628Glu(p.D628E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67874856:67874856(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781047955
CDS Mutation c.1700T>C
AA Mutation p.Ile567Thr(p.I567T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67911635:67911635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4129A>G
AA Mutation p.Ser1377Gly(p.S1377G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67909686:67909686(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3295A>G
AA Mutation p.Lys1099Glu(p.K1099E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67945997:67945997(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7667C>T
AA Mutation p.Pro2556Leu(p.P2556L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67909729:67909729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3338A>G
AA Mutation p.Asp1113Gly(p.D1113G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000321892
Start 67924552:67924552(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6092A>G
AA Mutation p.Glu2031Gly(p.E2031G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000321892
Start 67893519:67893519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2583T>G
Mutation Classification Silent
Feature Type Transcript
ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000321892
Start 67854753:67854754(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1427_1428insCCACACAGCAAGACCCTATTTCTACAAAAAA
AA Mutation p.Arg476SerfsTer21(p.R476Sfs*21)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 12
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000321892
Start 67924545:67924545(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6087-2A>G
Mutation Classification Splice_Site
Feature Type Transcript