Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PAX4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127613863:127613863(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.431T>C
AA Mutation	p.Val144Ala(p.V144A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127613032:127613032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.681G>T
AA Mutation	p.Met227Ile(p.M227I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127615517:127615517(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4A>G
AA Mutation	p.Asn2Asp(p.N2D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127611165:127611165(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.931C>A
AA Mutation	p.Leu311Ile(p.L311I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127613810:127613810(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.484G>A
AA Mutation	p.Gly162Ser(p.G162S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000341640
Start	127615503:127615503(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.18delG
AA Mutation	p.Leu7SerfsTer3(p.L7Sfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Rectum Cancer: Gene >> PAX4

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127613512:127613512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.559C>T
AA Mutation	p.Pro187Ser(p.P187S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127613804:127613804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121917718
CDS Mutation	c.490C>T
AA Mutation	p.Arg164Trp(p.R164W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127613455:127613455(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.616G>A
AA Mutation	p.Val206Met(p.V206M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000341640
Start	127611622:127611622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.802C>T
AA Mutation	p.Pro268Ser(p.P268S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000341640
Start	127614504:127614504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751472336
CDS Mutation	c.390G>A
Mutation Classification	Silent
Feature Type	Transcript