Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CEP250

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35467455:35467455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.751G>A
AA Mutation	p.Ala251Thr(p.A251T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35466074:35466074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781762969
CDS Mutation	c.362G>A
AA Mutation	p.Arg121Gln(p.R121Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35502490:35502490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4121C>A
AA Mutation	p.Ala1374Asp(p.A1374D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35503700:35503700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5331G>T
AA Mutation	p.Glu1777Asp(p.E1777D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35497881:35497881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs77804973
CDS Mutation	c.3469C>T
AA Mutation	p.Arg1157Cys(p.R1157C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35497929:35497929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377120249
CDS Mutation	c.3517G>A
AA Mutation	p.Gly1173Arg(p.G1173R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35504911:35504911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6542C>T
AA Mutation	p.Ala2181Val(p.A2181V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35467327:35467327(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.623A>G
AA Mutation	p.Glu208Gly(p.E208G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35473471:35473471(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200183326
CDS Mutation	c.1307G>A
AA Mutation	p.Arg436Gln(p.R436Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35504797:35504797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6428C>A
AA Mutation	p.Ser2143Tyr(p.S2143Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35467374:35467374(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.670A>G
AA Mutation	p.Thr224Ala(p.T224A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35473384:35473384(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1220A>G
AA Mutation	p.Gln407Arg(p.Q407R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35504614:35504614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6245A>G
AA Mutation	p.Gln2082Arg(p.Q2082R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35504837:35504837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6468G>T
AA Mutation	p.Gln2156His(p.Q2156H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35490646:35490646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773558951
CDS Mutation	c.2596C>T
AA Mutation	p.Arg866Cys(p.R866C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35497914:35497914(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781608093
CDS Mutation	c.3502G>A
AA Mutation	p.Ala1168Thr(p.A1168T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35504475:35504475(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs555985621
CDS Mutation	c.6106G>A
AA Mutation	p.Asp2036Asn(p.D2036N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35498694:35498694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3755T>C
AA Mutation	p.Leu1252Pro(p.L1252P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35494624:35494624(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763406705
CDS Mutation	c.3134G>A
AA Mutation	p.Arg1045Gln(p.R1045Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35467369:35467369(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs78174774
CDS Mutation	c.665G>A
AA Mutation	p.Arg222His(p.R222H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35511450:35511450(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7153G>A
AA Mutation	p.Ala2385Thr(p.A2385T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35467352:35467352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.648G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35504327:35504327(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5958G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35478098:35478098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2091T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35503347:35503347(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4978C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35479739:35479739(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2382T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35497782:35497782(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3370C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35502626:35502626(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4257G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35498636:35498636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3697C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35467022:35467022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.549G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35465797:35465797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.298C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397527
Start	35476475:35476476(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1744_1745delAG
AA Mutation	p.Ser582PhefsTer2(p.S582Ffs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397527
Start	35478094:35478097(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2088_2091delAAGT
AA Mutation	p.Glu698HisfsTer36(p.E698Hfs*36)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000397527
Start	35467329:35467356(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.626_653delATGTGAGGCTTTCAGGGTCTCTGTTGAC
AA Mutation	p.His209ProfsTer6(p.H209Pfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	stop_gained
Transcription ID	ENST00000397527
Start	35496641:35496641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3232C>T
AA Mutation	p.Arg1078Ter(p.R1078*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	stop_gained
Transcription ID	ENST00000397527
Start	35497875:35497875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749314857
CDS Mutation	c.3463C>T
AA Mutation	p.Arg1155Ter(p.R1155*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000397527
Start	35500048:35500048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3778-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000397527
Start	35476596:35476596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1863+1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> CEP250

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35472713:35472713(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1091G>A
AA Mutation	p.Gly364Asp(p.G364D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35511596:35511596(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7299C>A
AA Mutation	p.Ser2433Arg(p.S2433R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000397527
Start	35497974:35497974(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3562G>T
AA Mutation	p.Ala1188Ser(p.A1188S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000397527
Start	35511470:35511470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7173C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000397527
Start	35478066:35478066(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2059G>T
AA Mutation	p.Glu687Ter(p.E687*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000397527
Start	35496641:35496641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3232C>T
AA Mutation	p.Arg1078Ter(p.R1078*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript