Primary Site >> Liver Cancer

Gene >> PRKDC

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47831893:47831893(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8186G>T
AA Mutation p.Arg2729Leu(p.R2729L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47927239:47927239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2374A>G
AA Mutation p.Ile792Val(p.I792V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47881499:47881499(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4984A>G
AA Mutation p.Asn1662Asp(p.N1662D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47882076:47882076(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4798A>G
AA Mutation p.Met1600Val(p.M1600V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47927808:47927808(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2222T>C
AA Mutation p.Ile741Thr(p.I741T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47927337:47927337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2276G>A
AA Mutation p.Gly759Asp(p.G759D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47789012:47789012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10796C>T
AA Mutation p.Thr3599Ile(p.T3599I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47863466:47863466(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5683A>G
AA Mutation p.Lys1895Glu(p.K1895E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47782504:47782504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11270A>T
AA Mutation p.Asp3757Val(p.D3757V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47785245:47785245(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10975T>G
AA Mutation p.Phe3659Val(p.F3659V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000314191
Start 47935734:47935734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1445T>A
AA Mutation p.Val482Glu(p.V482E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47930761:47930761(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1803G>T
AA Mutation p.Trp601Cys(p.W601C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000314191
Start 47789174:47789174(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10735T>C
AA Mutation p.Ser3579Pro(p.S3579P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000314191
Start 47803423:47803423(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9805A>C
Mutation Classification Silent
Feature Type Transcript
ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000314191
Start 47943287:47943287(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.888C>G
Mutation Classification Silent
Feature Type Transcript
ID 16
Mutation Consequence frameshift_variant
Transcription ID ENST00000314191
Start 47879600:47879615(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5111_5126delGAGGCAGTCTGGAGGA
AA Mutation p.Gly1704AspfsTer35(p.G1704Dfs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000314191
Start 47877779:47877779(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5308C>T
AA Mutation p.Gln1770Ter(p.Q1770*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence stop_gained
Transcription ID ENST00000314191
Start 47902618:47902618(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3220A>T
AA Mutation p.Lys1074Ter(p.K1074*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence splice_donor_variant
Transcription ID ENST00000314191
Start 47943852:47943852(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.808+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 20
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000314191
Start 47934091:47934091(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1498-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 21
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000314191
Start 47834398:47834398(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7952-2A>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 22
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000314191
Start 47862128:47862128(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5920-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 23
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000314191
Start 47855374:47855374(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6610-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 24
Mutation Consequence inframe_insertion
Transcription ID ENST00000314191
Start 47890322:47890323(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4003_4005dupTGC
AA Mutation p.Cys1335dup(p.C1335dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript