Primary Site >> Esophagus Cancer

Gene >> PTCH1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000331920
Start 95447303:95447303(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs536440590
CDS Mutation c.3953C>T
AA Mutation p.Pro1318Leu(p.P1318L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000331920
Start 95449267:95449267(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3606delC
AA Mutation p.Ser1203AlafsTer52(p.S1203Afs*52)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000331920
Start 95468959:95468959(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2042delC
AA Mutation p.Pro681ArgfsTer12(p.P681Rfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000331920
Start 95480042:95480042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.994A>T
AA Mutation p.Arg332Ter(p.R332*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000331920
Start 95456299:95456299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3283G>T
AA Mutation p.Glu1095Ter(p.E1095*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000331920
Start 95461952:95461953(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2606dupT
AA Mutation p.Met869IlefsTer27(p.M869Ifs*27)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000331920
Start 95480079:95480080(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.956dupT
AA Mutation p.Met319IlefsTer118(p.M319Ifs*118)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 8
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000331920
Start 95477704:95477704(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1348-2A>T
Mutation Classification Splice_Site
Feature Type Transcript