Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> C4BPA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000367070
Start	207143971:207143971(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1598C>A
AA Mutation	p.Pro533Gln(p.P533Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000367070
Start	207141130:207141130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762693425
CDS Mutation	c.1298C>T
AA Mutation	p.Ala433Val(p.A433V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000367070
Start	207115456:207115456(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.369A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000367070
Start	207123952:207123952(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.459T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000367070
Start	207126809:207126809(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.807delA
AA Mutation	p.Gly270ValfsTer9(p.G270Vfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> C4BPA

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000367070
Start	207115462:207115462(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.375G>T
AA Mutation	p.Glu125Asp(p.E125D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000367070
Start	207123996:207123996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.503C>A
AA Mutation	p.Pro168Gln(p.P168Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000367070
Start	207123965:207123965(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.472G>T
AA Mutation	p.Asp158Tyr(p.D158Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000367070
Start	207143852:207143852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1479G>T
AA Mutation	p.Arg493Ser(p.R493S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000367070
Start	207144709:207144709(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1786G>T
AA Mutation	p.Glu596Ter(p.E596*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript