Primary Site >> Esophagus Cancer

Gene >> CDKN2A

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000304494
Start 21971024:21971024(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587782797
CDS Mutation c.335G>A
AA Mutation p.Arg112His(p.R112H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000304494
Start 21971112:21971112(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs121913385
CDS Mutation c.247C>T
AA Mutation p.His83Tyr(p.H83Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000304494
Start 21970902:21970902(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs45476696
CDS Mutation c.457G>A
AA Mutation p.Asp153Asn(p.D153N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000304494
Start 21974725:21974725(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757066045
CDS Mutation c.103G>A
AA Mutation p.Gly35Arg(p.G35R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000304494
Start 21971026:21971027(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.332_333delGC
AA Mutation p.Gly111AlafsTer8(p.G111Afs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000304494
Start 21974786:21974796(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.32_42delCTTCGGCTGAC
AA Mutation p.Pro11LeufsTer29(p.P11Lfs*29)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000304494
Start 21971176:21971176(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.183delG
AA Mutation p.Glu61AspfsTer85(p.E61Dfs*85)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000304494
Start 21974718:21974719(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.109_110insG
AA Mutation p.Leu37ArgfsTer7(p.L37Rfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 9
Mutation Consequence splice_donor_variant
Transcription ID ENST00000304494
Start 21974677:21974677(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.150+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 10
Mutation Consequence splice_donor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000304494
Start 21970895:21970902(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.457_457+7delGGTGAGGA
Mutation Classification Splice_Site
Feature Type Transcript
ID 11
Mutation Consequence splice_donor_variant
Transcription ID ENST00000304494
Start 21970900:21970900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.457+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 12
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000304494
Start 21968243:21968243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.458-1G>A
Mutation Classification Splice_Site
Feature Type Transcript