Primary Site >> Esophagus Cancer

Gene >> EP300

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000263253
Start 41169529:41169529(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4199G>T
AA Mutation p.Ser1400Ile(p.S1400I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000263253
Start 41169561:41169561(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4231A>G
AA Mutation p.Thr1411Ala(p.T1411A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000263253
Start 41169570:41169570(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4240T>G
AA Mutation p.Tyr1414Asp(p.Y1414D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000263253
Start 41176505:41176505(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5038C>T
AA Mutation p.Arg1680Cys(p.R1680C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000263253
Start 41151891:41151891(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2876G>A
AA Mutation p.Ser959Asn(p.S959N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000263253
Start 41117392:41117392(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.300A>G
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000263253
Start 41178675:41178675(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6970delC
AA Mutation p.His2324ThrfsTer29(p.H2324Tfs*29)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000263253
Start 41170503:41170503(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4384C>T
AA Mutation p.Arg1462Ter(p.R1462*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence splice_donor_variant
Transcription ID ENST00000263253
Start 41172664:41172664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4617+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 10
Mutation Consequence inframe_deletion
Transcription ID ENST00000263253
Start 41169518:41169535(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4190_4207delACCTCGATAGTGTTCATT
AA Mutation p.Tyr1397_His1402del(p.Y1397_H1402del)
Mutation Classification In_Frame_Del
Feature Type Transcript