Mutation

Primary Site >> Pancreatic Cancer

Gene >> CDKN2A

ID	1
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	2
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	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21974761:21974761(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.67G>T
AA Mutation	p.Gly23Cys(p.G23C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000304494
Start	21971004:21971004(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.355G>A
AA Mutation	p.Glu119Lys(p.E119K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21971097:21971097(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.262delG
AA Mutation	p.Glu88ArgfsTer58(p.E88Rfs*58)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21974696:21974696(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.132delC
AA Mutation	p.Tyr44Ter(p.Y44*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21971144:21971153(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.206_215delAGCCCAACTG
AA Mutation	p.Glu69AlafsTer74(p.E69Afs*74)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	8
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21971011:21971027(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.332_348delGCCGTCTGCCCGTGGAC
AA Mutation	p.Gly111AlafsTer3(p.G111Afs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21974769:21974776(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.52_59delACGGCCGC
AA Mutation	p.Thr18GlyfsTer23(p.T18Gfs*23)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000304494
Start	21971121:21971121(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121913388
CDS Mutation	c.238C>T
AA Mutation	p.Arg80Ter(p.R80*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000304494
Start	21971001:21971001(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.358G>T
AA Mutation	p.Glu120Ter(p.E120*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	stop_gained
Transcription ID	ENST00000304494
Start	21971187:21971187(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121913387
CDS Mutation	c.172C>T
AA Mutation	p.Arg58Ter(p.R58*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000304494
Start	21971097:21971097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121913384
CDS Mutation	c.262G>T
AA Mutation	p.Glu88Ter(p.E88*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000304494
Start	21974680:21974680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.148C>T
AA Mutation	p.Gln50Ter(p.Q50*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21971144:21971145(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.214dupT
AA Mutation	p.Cys72LeufsTer48(p.C72Lfs*48)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21971096:21971097(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.261_262dupGG
AA Mutation	p.Glu88GlyfsTer59(p.E88Gfs*59)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000304494
Start	21971004:21971005(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.354dupT
AA Mutation	p.Glu119Ter(p.E119*)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	18
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000304494
Start	21971064:21971069(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.290_295delTGCACC
AA Mutation	p.Leu97_His98del(p.L97_H98del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	19
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000304494
Start	21974728:21974745(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.83_100delTGCGGGCGCTGCTGGAGG
AA Mutation	p.Val28_Glu33del(p.V28_E33del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	20
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000304494
Start	21974770:21974771(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.52_57dupACGGCC
AA Mutation	p.Thr18_Ala19dup(p.T18_A19dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript