Primary Site >> Esophagus Cancer

Gene >> POLQ

ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000264233
Start 121481812:121481812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5971G>A
AA Mutation p.Val1991Met(p.V1991M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000264233
Start 121488961:121488961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3970C>G
AA Mutation p.Leu1324Val(p.L1324V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000264233
Start 121511922:121511922(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1576G>A
AA Mutation p.Glu526Lys(p.E526K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000264233
Start 121489666:121489666(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3265A>C
AA Mutation p.Thr1089Pro(p.T1089P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000264233
Start 121490365:121490365(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200486636
CDS Mutation c.2566C>T
AA Mutation p.Arg856Cys(p.R856C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000264233
Start 121460135:121460135(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7067C>T
AA Mutation p.Ala2356Val(p.A2356V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000264233
Start 121489061:121489061(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3870A>G
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000264233
Start 121460164:121460164(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7038T>G
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000264233
Start 121489274:121489274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3657C>A
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000264233
Start 121511993:121511993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1505C>G
AA Mutation p.Ser502Ter(p.S502*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript