Primary Site >> Biliary tract Cancer

Gene >> EPHA2

ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000358432
Start 16125318:16125318(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2828A>T
AA Mutation p.Asp943Val(p.D943V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000358432
Start 16133212:16133212(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2021A>T
AA Mutation p.Asn674Ile(p.N674I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence frameshift_variant
Transcription ID ENST00000358432
Start 16148454:16148479(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.722_747delAAGAGCCCCGTATGCACTGTGCAGTG
AA Mutation p.Glu241GlyfsTer33(p.E241Gfs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000358432
Start 16148520:16148535(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.666_681delCCTGGCCACTGTGGCC
AA Mutation p.Leu223AlafsTer165(p.L223Afs*165)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000358432
Start 16135681:16135681(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1402A>T
AA Mutation p.Lys468Ter(p.K468*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000358432
Start 16148927:16148928(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.273dupT
AA Mutation p.Glu92Ter(p.E92*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000358432
Start 16148767:16148768(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.433dupA
AA Mutation p.Ile145AsnfsTer5(p.I145Nfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript