Primary Site >> Esophagus Cancer

Gene >> KMT2A

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118472675:118472675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1516A>G
AA Mutation p.Thr506Ala(p.T506A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118504240:118504240(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8339T>C
AA Mutation p.Met2780Thr(p.M2780T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118510075:118510075(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11019T>G
AA Mutation p.Ile3673Met(p.I3673M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118504675:118504675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8774T>A
AA Mutation p.Leu2925Gln(p.L2925Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118522057:118522057(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11795G>A
AA Mutation p.Arg3932His(p.R3932H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118504348:118504348(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8447C>G
AA Mutation p.Ser2816Cys(p.S2816C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118478093:118478093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3461G>A
AA Mutation p.Arg1154Gln(p.R1154Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118495788:118495788(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5443G>A
AA Mutation p.Glu1815Lys(p.E1815K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000389506
Start 118481870:118481870(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3790C>T
AA Mutation p.Arg1264Ter(p.R1264*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118472301:118472302(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1147dupG
AA Mutation p.Ala383GlyfsTer6(p.A383Gfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript