Mutation

Primary Site >> Liver Cancer

Gene >> CDKN2A

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21971191:21971191(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771138120
CDS Mutation	c.168C>A
AA Mutation	p.Ser56Arg(p.S56R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21971102:21971102(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.257C>A
AA Mutation	p.Ala86Asp(p.A86D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21971036:21971036(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.323A>G
AA Mutation	p.Asp108Gly(p.D108G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21971037:21971037(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121913381
CDS Mutation	c.322G>T
AA Mutation	p.Asp108Tyr(p.D108Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21971112:21971112(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.247C>G
AA Mutation	p.His83Asp(p.H83D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21971109:21971109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs11552822
CDS Mutation	c.250G>T
AA Mutation	p.Asp84Tyr(p.D84Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21974752:21974761(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.67_76delGGTCGGGTAG
AA Mutation	p.Gly23ArgfsTer27(p.G23Rfs*27)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21974714:21974714(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.114delC
AA Mutation	p.Asn39ThrfsTer14(p.N39Tfs*14)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21974777:21974778(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.47_50dupTGGC
AA Mutation	p.Thr18GlyfsTer27(p.T18Gfs*27)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	10
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000304494
Start	21971210:21971210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.151-2A>T
Mutation Classification	Splice_Site
Feature Type	Transcript