Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EGR1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000239938
Start	138467380:138467380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.931T>C
AA Mutation	p.Tyr311His(p.Y311H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000239938
Start	138465859:138465859(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.98C>A
AA Mutation	p.Pro33His(p.P33H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000239938
Start	138467413:138467413(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.964C>T
AA Mutation	p.Arg322Cys(p.R322C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000239938
Start	138468075:138468075(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1626T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000239938
Start	138467889:138467889(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1440G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000239938
Start	138467443:138467443(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1000delC
AA Mutation	p.His334ThrfsTer198(p.H334Tfs*198)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000239938
Start	138467677:138467677(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1228G>T
AA Mutation	p.Glu410Ter(p.E410*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	stop_gained
Transcription ID	ENST00000239938
Start	138466899:138466899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.450G>A
AA Mutation	p.Trp150Ter(p.W150*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000239938
Start	138466985:138466987(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.541_543delTCC
AA Mutation	p.Ser181del(p.S181del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

Rectum Cancer: Gene >> EGR1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000239938
Start	138467659:138467659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1210A>G
AA Mutation	p.Lys404Glu(p.K404E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000239938
Start	138467572:138467572(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1123C>T
AA Mutation	p.Arg375Cys(p.R375C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000239938
Start	138466999:138466999(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.550G>A
AA Mutation	p.Ala184Thr(p.A184T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000239938
Start	138467163:138467163(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.714T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000239938
Start	138467443:138467443(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1000delC
AA Mutation	p.His334ThrfsTer198(p.H334Tfs*198)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript