Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EGLN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000366641
Start	231421117:231421117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.772T>C
AA Mutation	p.Trp258Arg(p.W258R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000366641
Start	231370679:231370679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1031G>A
AA Mutation	p.Arg344Gln(p.R344Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000366641
Start	231421207:231421207(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.682G>A
AA Mutation	p.Ala228Thr(p.A228T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000366641
Start	231421062:231421062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.827T>C
AA Mutation	p.Met276Thr(p.M276T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000366641
Start	231421784:231421784(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.105C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000366641
Start	231421395:231421395(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.494delC
AA Mutation	p.Pro165GlnfsTer9(p.P165Qfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> EGLN1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000366641
Start	231370679:231370679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1031G>A
AA Mutation	p.Arg344Gln(p.R344Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000366641
Start	231421274:231421284(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.605_615delTGAACAAGCAC
AA Mutation	p.Met202ArgfsTer41(p.M202Rfs*41)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript