Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PAPSS2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361175
Start	87727322:87727322(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs762088120
CDS Mutation	c.904G>A
AA Mutation	p.Val302Ile(p.V302I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000361175
Start	87714096:87714096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.434A>C
AA Mutation	p.Glu145Ala(p.E145A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000361175
Start	87727448:87727448(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1030C>T
AA Mutation	p.Arg344Cys(p.R344C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000361175
Start	87713305:87713305(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs549258954
CDS Mutation	c.376G>A
AA Mutation	p.Ala126Thr(p.A126T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000361175
Start	87714764:87714764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.540T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained
Transcription ID	ENST00000361175
Start	87741358:87741358(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1195G>T
AA Mutation	p.Glu399Ter(p.E399*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PAPSS2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000361175
Start	87743438:87743438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1273A>C
AA Mutation	p.Thr425Pro(p.T425P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000361175
Start	87713077:87713077(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.148C>A
AA Mutation	p.Leu50Ile(p.L50I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000361175
Start	87741348:87741348(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1185G>T
AA Mutation	p.Gln395His(p.Q395H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript