Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PAX2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000428433
Start	100750716:100750716(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.235A>G
AA Mutation	p.Lys79Glu(p.K79E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000428433
Start	100806487:100806487(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765955789
CDS Mutation	c.743G>A
AA Mutation	p.Arg248Gln(p.R248Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000428433
Start	100781284:100781284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.535A>G
AA Mutation	p.Asn179Asp(p.N179D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000428433
Start	100749789:100749789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751733764
CDS Mutation	c.87C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000428433
Start	100827567:100827567(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1207delC
AA Mutation	p.Arg403GlyfsTer37(p.R403Gfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> PAX2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000428433
Start	100806486:100806486(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142737641
CDS Mutation	c.742C>T
AA Mutation	p.Arg248Trp(p.R248W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000428433
Start	100750875:100750875(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.394G>A
AA Mutation	p.Val132Ile(p.V132I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000428433
Start	100809231:100809231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.983T>G
AA Mutation	p.Val328Gly(p.V328G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000428433
Start	100827567:100827567(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1207delC
AA Mutation	p.Arg403GlyfsTer37(p.R403Gfs*37)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript