Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> DPYD

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97679126:97679126(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.819A>C
AA Mutation	p.Glu273Asp(p.E273D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97098520:97098520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2735T>G
AA Mutation	p.Phe912Cys(p.F912C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97193231:97193231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2460G>T
AA Mutation	p.Gln820His(p.Q820H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97699457:97699457(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.574C>T
AA Mutation	p.Leu192Phe(p.L192F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97082458:97082458(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2779A>G
AA Mutation	p.Lys927Glu(p.K927E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97593379:97593379(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201018345
CDS Mutation	c.967G>A
AA Mutation	p.Ala323Thr(p.A323T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97593336:97593336(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1010T>C
AA Mutation	p.Val337Ala(p.V337A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97573918:97573918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1181G>A
AA Mutation	p.Arg394Gln(p.R394Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000370192
Start	97079145:97079145(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2909C>A
AA Mutation	p.Ala970Asp(p.A970D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97306282:97306282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs538703919
CDS Mutation	c.2074C>T
AA Mutation	p.Arg692Trp(p.R692W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97079055:97079055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2999A>G
AA Mutation	p.Asp1000Gly(p.D1000G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97306195:97306195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145548112
CDS Mutation	c.2161G>A
AA Mutation	p.Ala721Thr(p.A721T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97079031:97079031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3023C>A
AA Mutation	p.Thr1008Lys(p.T1008K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97699431:97699431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.600A>G
AA Mutation	p.Ile200Met(p.I200M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97721569:97721569(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs763623595
CDS Mutation	c.424T>G
AA Mutation	p.Leu142Val(p.L142V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97305373:97305373(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2185G>A
AA Mutation	p.Ala729Thr(p.A729T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97193169:97193169(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2522A>T
AA Mutation	p.Lys841Ile(p.K841I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97450071:97450071(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1893C>A
AA Mutation	p.Asp631Glu(p.D631E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97549703:97549703(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1381C>A
AA Mutation	p.Leu461Ile(p.L461I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97883365:97883365(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.49G>A
AA Mutation	p.Ala17Thr(p.A17T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97828158:97828158(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.189G>T
AA Mutation	p.Lys63Asn(p.K63N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97515906:97515906(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1560A>C
AA Mutation	p.Glu520Asp(p.E520D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97549637:97549637(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs141439344
CDS Mutation	c.1447G>A
AA Mutation	p.Val483Ile(p.V483I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000370192
Start	97573760:97573760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1339G>T
AA Mutation	p.Val447Leu(p.V447L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97079073:97079073(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2981G>A
AA Mutation	p.Ser994Asn(p.S994N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97234900:97234900(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2394T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97573950:97573950(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1149A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97721543:97721543(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.450T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97721603:97721603(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.390T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97679174:97679174(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754745863
CDS Mutation	c.771C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370192
Start	97306235:97306235(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.2121delT
AA Mutation	p.Phe707LeufsTer4(p.F707Lfs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370192
Start	97515899:97515899(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1567delC
AA Mutation	p.Leu523SerfsTer13(p.L523Sfs*13)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> DPYD

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97883352:97883352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs80081766
CDS Mutation	c.62G>A
AA Mutation	p.Arg21Gln(p.R21Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97193091:97193091(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2600G>T
AA Mutation	p.Arg867Leu(p.R867L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97515923:97515923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148994843
CDS Mutation	c.1543G>A
AA Mutation	p.Val515Ile(p.V515I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97699456:97699456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.575T>C
AA Mutation	p.Leu192Pro(p.L192P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97079025:97079025(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3029C>A
AA Mutation	p.Pro1010His(p.P1010H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000370192
Start	97515805:97515805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1661C>T
AA Mutation	p.Ala554Val(p.A554V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97079006:97079006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs545959800
CDS Mutation	c.3048C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97098588:97098588(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2667C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370192
Start	97305344:97305344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2214C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000370192
Start	97079128:97079128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2926G>T
AA Mutation	p.Glu976Ter(p.E976*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript