Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> AIM2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000368130
Start	159066085:159066085(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs749567312
CDS Mutation	c.641G>A
AA Mutation	p.Arg214Gln(p.R214Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000368130
Start	159073387:159073387(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.113G>A
AA Mutation	p.Gly38Asp(p.G38D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000368130
Start	159066133:159066133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.593A>G
AA Mutation	p.Lys198Arg(p.K198R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000368130
Start	159068600:159068600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.364C>T
AA Mutation	p.Arg122Cys(p.R122C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000368130
Start	159065964:159065964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748345009
CDS Mutation	c.762G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000368130
Start	159066176:159066176(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.550G>T
AA Mutation	p.Glu184Ter(p.E184*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000368130
Start	159063560:159063560(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs145420527
CDS Mutation	c.931C>T
AA Mutation	p.Arg311Ter(p.R311*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> AIM2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000368130
Start	159063650:159063650(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.841T>G
AA Mutation	p.Leu281Val(p.L281V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000368130
Start	159073475:159073475(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.25C>A
AA Mutation	p.Leu9Ile(p.L9I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000368130
Start	159068643:159068643(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773309029
CDS Mutation	c.321T>C
Mutation Classification	Silent
Feature Type	Transcript