Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> USP49

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000373009
Start	41803956:41803956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1411C>A
AA Mutation	p.Leu471Ile(p.L471I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000373009
Start	41806854:41806854(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.130G>A
AA Mutation	p.Val44Met(p.V44M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000373009
Start	41805764:41805764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1220T>A
AA Mutation	p.Leu407Gln(p.L407Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000373009
Start	41806824:41806824(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144313199
CDS Mutation	c.160G>A
AA Mutation	p.Ala54Thr(p.A54T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373009
Start	41806288:41806288(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.696A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373009
Start	41798815:41798815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1785C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373009
Start	41806378:41806378(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756203576
CDS Mutation	c.606C>T
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> USP49

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000373009
Start	41805719:41805719(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1265G>A
AA Mutation	p.Arg422His(p.R422H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000373009
Start	41806830:41806830(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148441118
CDS Mutation	c.154G>A
AA Mutation	p.Asp52Asn(p.D52N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000373009
Start	41803968:41803968(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1399C>T
AA Mutation	p.Pro467Ser(p.P467S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373009
Start	41805700:41805700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1284C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained
Transcription ID	ENST00000373009
Start	41799881:41799881(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1619T>G
AA Mutation	p.Leu540Ter(p.L540*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript