Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CA2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000285379
Start	85480746:85480746(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.740C>T
AA Mutation	p.Ala247Val(p.A247V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000285379
Start	85480682:85480682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777088645
CDS Mutation	c.676C>T
AA Mutation	p.Arg226Cys(p.R226C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000285379
Start	85474370:85474370(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.398C>T
AA Mutation	p.Ala133Val(p.A133V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000285379
Start	85473748:85473748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.288C>A
AA Mutation	p.His96Gln(p.H96Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000285379
Start	85474406:85474406(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.440delT
AA Mutation	p.Leu147Ter(p.L147*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000285379
Start	85474405:85474406(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs763603775
CDS Mutation	c.440dupT
AA Mutation	p.Leu147PhefsTer7(p.L147Ffs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> CA2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000285379
Start	85477270:85477270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs555992309
CDS Mutation	c.658G>A
AA Mutation	p.Glu220Lys(p.E220K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000285379
Start	85474395:85474395(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369106031
CDS Mutation	c.423C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000285379
Start	85465296:85465297(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.63dupC
AA Mutation	p.Ile22HisfsTer11(p.I22Hfs*11)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript