Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SNRNP70

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000598441
Start	49090337:49090337(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.194A>G
AA Mutation	p.Glu65Gly(p.E65G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000598441
Start	49108415:49108415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1286G>T
AA Mutation	p.Gly429Val(p.G429V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000598441
Start	49107985:49107985(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.856C>T
AA Mutation	p.Arg286Trp(p.R286W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000598441
Start	49086531:49086531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.117T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000598441
Start	49098455:49098455(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.298delG
AA Mutation	p.Asp100MetfsTer11(p.D100Mfs*11)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000598441
Start	49108000:49108000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.871C>T
AA Mutation	p.Arg291Ter(p.R291*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> SNRNP70

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000598441
Start	49101466:49101466(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.470T>G
AA Mutation	p.Met157Arg(p.M157R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000598441
Start	49086555:49086555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.141G>T
AA Mutation	p.Glu47Asp(p.E47D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000598441
Start	49090298:49090298(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.155G>A
AA Mutation	p.Arg52Gln(p.R52Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript