Primary Site >> Liver Cancer

Gene >> TSC2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000219476
Start 2054374:2054374(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.415A>T
AA Mutation p.Arg139Trp(p.R139W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000219476
Start 2080278:2080278(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3511delG
AA Mutation p.Ala1171LeufsTer20(p.A1171Lfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000219476
Start 2054354:2054354(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.396delC
AA Mutation p.Asn133ThrfsTer49(p.N133Tfs*49)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000219476
Start 2086370:2086371(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4840_4841delAT
AA Mutation p.Ile1614HisfsTer38(p.I1614Hfs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000219476
Start 2072983:2072983(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2355+1delG
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000219476
Start 2088084:2088087(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5105_5108delTCGT
AA Mutation p.Ile1702SerfsTer123(p.I1702Sfs*123)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000219476
Start 2086834:2086853(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4953_4972delTGACTCCGGTGAGGACTTCA
AA Mutation p.Asn1651LysfsTer48(p.N1651Kfs*48)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000219476
Start 2084405:2084405(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4183C>T
AA Mutation p.Gln1395Ter(p.Q1395*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000219476
Start 2062587:2062587(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs45491095
CDS Mutation c.1348G>T
AA Mutation p.Glu450Ter(p.E450*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000219476
Start 2048718:2048718(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs137854105
CDS Mutation c.103C>T
AA Mutation p.Gln35Ter(p.Q35*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence stop_gained
Transcription ID ENST00000219476
Start 2074224:2074224(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs45517233
CDS Mutation c.2380C>T
AA Mutation p.Gln794Ter(p.Q794*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000219476
Start 2058809:2058809(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs45517140
CDS Mutation c.911G>A
AA Mutation p.Trp304Ter(p.W304*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence inframe_deletion
Transcription ID ENST00000219476
Start 2086305:2086310(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4777_4782delTACCTG
AA Mutation p.Tyr1593_Leu1594del(p.Y1593_L1594del)
Mutation Classification In_Frame_Del
Feature Type Transcript