Primary Site >> Esophagus Cancer

Gene >> CREBBP

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3793430:3793430(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1172T>C
AA Mutation p.Val391Ala(p.V391A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3738616:3738616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4337G>T
AA Mutation p.Arg1446Leu(p.R1446L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3728028:3728028(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7019G>A
AA Mutation p.Ser2340Asn(p.S2340N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3774635:3774635(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2217G>A
AA Mutation p.Met739Ile(p.M739I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262367
Start 3736137:3736137(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4627G>C
AA Mutation p.Asp1543His(p.D1543H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000262367
Start 3731438:3731438(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4926C>T
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000262367
Start 3850660:3850660(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.435delC
AA Mutation p.Ala146LeufsTer6(p.A146Lfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3757901:3757901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3517C>T
AA Mutation p.Arg1173Ter(p.R1173*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3770587:3770587(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2863C>T
AA Mutation p.Gln955Ter(p.Q955*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000262367
Start 3739595:3739595(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4263C>A
AA Mutation p.Cys1421Ter(p.C1421*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000262367
Start 3778083:3778084(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2040dupG
AA Mutation p.Asn681GlufsTer45(p.N681Efs*45)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript