Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CAP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372792
Start	40071492:40071492(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1387G>A
AA Mutation	p.Gly463Arg(p.G463R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000372792
Start	40071463:40071463(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1358T>C
AA Mutation	p.Val453Ala(p.V453A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000372792
Start	40070941:40070941(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374359120
CDS Mutation	c.1306G>A
AA Mutation	p.Glu436Lys(p.E436K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372792
Start	40064299:40064299(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.367C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000372792
Start	40067555:40067555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.646G>T
AA Mutation	p.Glu216Ter(p.E216*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	protein_altering_variant
Transcription ID	ENST00000372792
Start	40064296:40064297(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.364_365insTACAAGAAAAGATTC
AA Mutation	p.Asn122delinsIleGlnGluLysIleHis(p.N122delinsIQEKIH)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CAP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372792
Start	40066301:40066301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.611G>A
AA Mutation	p.Gly204Glu(p.G204E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372792
Start	40070970:40070970(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1335C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000372792
Start	40071519:40071519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1414G>T
AA Mutation	p.Glu472Ter(p.E472*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript