Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CKAP5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46753428:46753428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4939A>G
AA Mutation	p.Ile1647Val(p.I1647V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46762088:46762088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4133G>A
AA Mutation	p.Arg1378His(p.R1378H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46778164:46778164(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199835668
CDS Mutation	c.2723G>A
AA Mutation	p.Arg908Gln(p.R908Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46816385:46816385(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.271T>C
AA Mutation	p.Ser91Pro(p.S91P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46763119:46763119(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3748A>G
AA Mutation	p.Thr1250Ala(p.T1250A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46770858:46770858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3116A>G
AA Mutation	p.Gln1039Arg(p.Q1039R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46755022:46755022(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746453148
CDS Mutation	c.4735G>A
AA Mutation	p.Gly1579Ser(p.G1579S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46808083:46808083(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.926A>C
AA Mutation	p.Asn309Thr(p.N309T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46753373:46753373(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4994T>C
AA Mutation	p.Ile1665Thr(p.I1665T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46762738:46762738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3916C>T
AA Mutation	p.Arg1306Cys(p.R1306C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46811101:46811101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.536C>T
AA Mutation	p.Ala179Val(p.A179V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46816229:46816229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.427G>A
AA Mutation	p.Ala143Thr(p.A143T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46801258:46801258(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1025A>C
AA Mutation	p.Lys342Thr(p.K342T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46762722:46762722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766170007
CDS Mutation	c.3932C>T
AA Mutation	p.Ala1311Val(p.A1311V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46780283:46780283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2344A>G
AA Mutation	p.Met782Val(p.M782V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46809816:46809816(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762234437
CDS Mutation	c.689G>A
AA Mutation	p.Arg230Gln(p.R230Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46795680:46795680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1564G>A
AA Mutation	p.Ala522Thr(p.A522T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46763026:46763026(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3841C>A
AA Mutation	p.His1281Asn(p.H1281N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46808136:46808136(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.873A>C
AA Mutation	p.Lys291Asn(p.K291N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46811051:46811051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755030125
CDS Mutation	c.586C>T
AA Mutation	p.Arg196Trp(p.R196W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000529230
Start	46778199:46778199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745935099
CDS Mutation	c.2688G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000529230
Start	46796905:46796905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147577269
CDS Mutation	c.1374C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000529230
Start	46767609:46767609(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3377delA
AA Mutation	p.Lys1126ArgfsTer25(p.K1126Rfs*25)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	stop_gained
Transcription ID	ENST00000529230
Start	46770871:46770871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3103C>T
AA Mutation	p.Arg1035Ter(p.R1035*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000529230
Start	46795700:46795701(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1543_1544insTTTTTAAATAATCTATT
AA Mutation	p.Lys515IlefsTer4(p.K515Ifs*4)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000529230
Start	46744211:46744212(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.5910_5911insCTTTTTTTCAA
AA Mutation	p.Val1971LeufsTer42(p.V1971Lfs*42)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CKAP5

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46809808:46809808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.697C>T
AA Mutation	p.Arg233Cys(p.R233C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46760648:46760648(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4358G>A
AA Mutation	p.Arg1453His(p.R1453H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46808126:46808126(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.883G>A
AA Mutation	p.Glu295Lys(p.E295K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46809837:46809837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.668C>A
AA Mutation	p.Thr223Lys(p.T223K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000529230
Start	46763062:46763062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3805A>G
AA Mutation	p.Lys1269Glu(p.K1269E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript