Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PFKM

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000312352
Start	48132923:48132923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.293G>A
AA Mutation	p.Arg98Gln(p.R98Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000312352
Start	48145096:48145096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121918196
CDS Mutation	c.2058G>T
AA Mutation	p.Trp686Cys(p.W686C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000312352
Start	48134267:48134267(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.629G>A
AA Mutation	p.Arg210His(p.R210H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312352
Start	48141967:48141967(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1554C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312352
Start	48145226:48145226(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2109T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000312352
Start	48134991:48134992(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.796_797insAGGGATTT
AA Mutation	p.Ala266GlufsTer59(p.A266Efs*59)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> PFKM

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000340802
Start	48107383:48107383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.10G>T
AA Mutation	p.Asp4Tyr(p.D4Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000312352
Start	48135002:48135002(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.807G>T
AA Mutation	p.Lys269Asn(p.K269N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000312352
Start	48141752:48141752(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1425G>T
AA Mutation	p.Lys475Asn(p.K475N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript