Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GFPT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69328345:69328345(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1819G>A
AA Mutation	p.Val607Met(p.V607M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69338031:69338031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1349G>A
AA Mutation	p.Gly450Asp(p.G450D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69374093:69374093(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.28T>C
AA Mutation	p.Tyr10His(p.Y10H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000357308
Start	69358463:69358463(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.409G>A
AA Mutation	p.Glu137Lys(p.E137K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69345955:69345955(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1054G>A
AA Mutation	p.Glu352Lys(p.E352K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69326991:69326991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1978G>A
AA Mutation	p.Asp660Asn(p.D660N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000357308
Start	69329321:69329323(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1699_1701delTAT
AA Mutation	p.Tyr567del(p.Y567del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> GFPT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69370080:69370080(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.144A>T
AA Mutation	p.Lys48Asn(p.K48N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69370081:69370081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.143A>G
AA Mutation	p.Lys48Arg(p.K48R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69359305:69359305(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.371G>A
AA Mutation	p.Gly124Glu(p.G124E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000357308
Start	69348248:69348248(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536982477
CDS Mutation	c.932G>A
AA Mutation	p.Arg311Gln(p.R311Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript