Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTEN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87864510:87864510(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.41G>T
AA Mutation	p.Arg14Met(p.R14M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87933148:87933148(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909229
CDS Mutation	c.389G>A
AA Mutation	p.Arg130Gln(p.R130Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87864514:87864514(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.45A>C
AA Mutation	p.Arg15Ser(p.R15S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87965296:87965296(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1036T>G
AA Mutation	p.Tyr346Asp(p.Y346D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87961066:87961066(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.974T>G
AA Mutation	p.Leu325Arg(p.L325R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87952142:87952142(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121913293
CDS Mutation	c.517C>T
AA Mutation	p.Arg173Cys(p.R173C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87925541:87925541(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587780005
CDS Mutation	c.193T>G
AA Mutation	p.Tyr65Asp(p.Y65D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87952124:87952124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.499A>G
AA Mutation	p.Thr167Ala(p.T167A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87933166:87933166(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.407G>T
AA Mutation	p.Cys136Phe(p.C136F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371953
Start	87952141:87952141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.516G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000371953
Start	87965427:87965427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1167T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87864485:87864486(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.17_18delAA
AA Mutation	p.Lys6ArgfsTer4(p.K6Rfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87958013:87958013(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.800delA
AA Mutation	p.Lys267ArgfsTer9(p.K267Rfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87933132:87933132(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.375delA
AA Mutation	p.Ala126LeufsTer8(p.A126Lfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87961055:87961055(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.968delA
AA Mutation	p.Asn323MetfsTer21(p.N323Mfs*21)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87965296:87965305(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1036_1045delTACTTCACAA
AA Mutation	p.Tyr346LysfsTer3(p.Y346Kfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87933069:87933069(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.313delT
AA Mutation	p.Cys105ValfsTer8(p.C105Vfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87960987:87960987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.895G>T
AA Mutation	p.Glu299Ter(p.E299*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87933092:87933092(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.333G>A
AA Mutation	p.Trp111Ter(p.W111*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87933099:87933099(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.340G>T
AA Mutation	p.Glu114Ter(p.E114*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87933147:87933147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909224
CDS Mutation	c.388C>T
AA Mutation	p.Arg130Ter(p.R130*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87957915:87957915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909219
CDS Mutation	c.697C>T
AA Mutation	p.Arg233Ter(p.R233*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87960936:87960936(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.844G>T
AA Mutation	p.Gly282Ter(p.G282*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87933207:87933207(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs786204934
CDS Mutation	c.448G>T
AA Mutation	p.Glu150Ter(p.E150*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87961054:87961055(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.968dupA
AA Mutation	p.Asn323LysfsTer2(p.N323Kfs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000371953
Start	87925513:87925514(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.170dupT
AA Mutation	p.Leu57PhefsTer6(p.L57Ffs*6)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000371953
Start	87965303:87965304(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1048dupA
AA Mutation	p.Thr350AsnfsTer11(p.T350Nfs*11)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000371953
Start	87957852:87957852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.635-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000371953
Start	87957852:87957852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.635-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	splice_donor_variant;intron_variant
Transcription ID	ENST00000371953
Start	87925558:87925561(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.209+4_209+7delAGTA
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	start_lost
Transcription ID	ENST00000371953
Start	87864471:87864471(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2T>C
AA Mutation	p.Met1?(p.M1?)
Mutation Classification	Translation_Start_Site
Feature Type	Transcript

Rectum Cancer: Gene >> PTEN

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87933148:87933148(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909229
CDS Mutation	c.389G>A
AA Mutation	p.Arg130Gln(p.R130Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87957952:87957952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.734A>C
AA Mutation	p.Gln245Pro(p.Q245P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87933201:87933201(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.442G>T
AA Mutation	p.Ala148Ser(p.A148S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87961113:87961113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1021T>G
AA Mutation	p.Phe341Val(p.F341V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87933154:87933154(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121909241
CDS Mutation	c.395G>T
AA Mutation	p.Gly132Val(p.G132V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000371953
Start	87952119:87952119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.494G>A
AA Mutation	p.Gly165Glu(p.G165E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000371953
Start	87925550:87925550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs398123317
CDS Mutation	c.202T>A
AA Mutation	p.Tyr68Asn(p.Y68N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87960987:87960987(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.895G>T
AA Mutation	p.Glu299Ter(p.E299*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000371953
Start	87864488:87864488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19G>T
AA Mutation	p.Glu7Ter(p.E7*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000371953
Start	87952117:87952117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs786204862
CDS Mutation	c.493-1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript