Primary Site >> Stomach Cancer

Gene >> PTCH2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44827249:44827249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112613379
CDS Mutation c.2432G>A
AA Mutation p.Arg811His(p.R811H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44826374:44826374(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780447488
CDS Mutation c.2990C>T
AA Mutation p.Ala997Val(p.A997V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44827470:44827470(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761442845
CDS Mutation c.2303C>T
AA Mutation p.Ala768Val(p.A768V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44829243:44829243(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772212841
CDS Mutation c.1285G>A
AA Mutation p.Gly429Arg(p.G429R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44826627:44826627(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2837C>G
AA Mutation p.Pro946Arg(p.P946R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44841941:44841941(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.171A>C
AA Mutation p.Lys57Asn(p.K57N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44829938:44829938(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.906G>C
AA Mutation p.Met302Ile(p.M302I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000372192
Start 44826673:44826673(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569459197
CDS Mutation c.2791C>T
AA Mutation p.Arg931Trp(p.R931W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000372192
Start 44827867:44827867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2034G>T
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000372192
Start 44822553:44822553(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3474C>T
Mutation Classification Silent
Feature Type Transcript
ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000372192
Start 44827523:44827523(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2250C>T
Mutation Classification Silent
Feature Type Transcript
ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000372192
Start 44826936:44826936(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149815763
CDS Mutation c.2661C>T
Mutation Classification Silent
Feature Type Transcript
ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000372192
Start 44826614:44826614(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2850delC
AA Mutation p.Phe951SerfsTer42(p.F951Sfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000372192
Start 44822522:44822522(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs766993839
CDS Mutation c.3505delC
AA Mutation p.Leu1169CysfsTer85(p.L1169Cfs*85)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000372192
Start 44822481:44822482(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3545dupC
AA Mutation p.Trp1183LeufsTer7(p.W1183Lfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 16
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000372192
Start 44827311:44827311(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2372-2A>G
Mutation Classification Splice_Site
Feature Type Transcript