Primary Site >> Esophagus Cancer

Gene >> RB1

ID 1
Mutation Consequence frameshift_variant
Transcription ID ENST00000267163
Start 48342617:48342617(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.287delA
AA Mutation p.Lys96ArgfsTer15(p.K96Rfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000267163
Start 48381380:48381380(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1632delA
AA Mutation p.Glu545LysfsTer2(p.E545Kfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 3
Mutation Consequence stop_gained
Transcription ID ENST00000267163
Start 48373467:48373467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1190C>G
AA Mutation p.Ser397Ter(p.S397*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000267163
Start 48381402:48381402(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913303
CDS Mutation c.1654C>T
AA Mutation p.Arg552Ter(p.R552*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000267163
Start 48465269:48465270(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2391dupA
AA Mutation p.Arg798ThrfsTer17(p.R798Tfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript