Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GJC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44804911:44804911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749762217
CDS Mutation	c.907G>A
AA Mutation	p.Glu303Lys(p.E303K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44805682:44805682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.136G>A
AA Mutation	p.Asp46Asn(p.D46N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44805319:44805319(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771348171
CDS Mutation	c.499C>T
AA Mutation	p.Arg167Trp(p.R167W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44805795:44805795(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776242102
CDS Mutation	c.23G>A
AA Mutation	p.Arg8His(p.R8H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44804800:44804800(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767836844
CDS Mutation	c.1018C>T
AA Mutation	p.Arg340Trp(p.R340W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44805476:44805476(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.342C>A
AA Mutation	p.Ser114Arg(p.S114R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330514
Start	44805416:44805416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767121932
CDS Mutation	c.402C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330514
Start	44805236:44805236(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.582G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000330514
Start	44805433:44805433(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.385G>T
AA Mutation	p.Glu129Ter(p.E129*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> GJC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44804911:44804911(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749762217
CDS Mutation	c.907G>A
AA Mutation	p.Glu303Lys(p.E303K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44805415:44805415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs533809091
CDS Mutation	c.403G>A
AA Mutation	p.Glu135Lys(p.E135K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000330514
Start	44805319:44805319(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs771348171
CDS Mutation	c.499C>T
AA Mutation	p.Arg167Trp(p.R167W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000330514
Start	44804750:44804750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs770353465
CDS Mutation	c.1068C>T
Mutation Classification	Silent
Feature Type	Transcript