Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HPSE2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	98721814:98721814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753039198
CDS Mutation	c.799C>T
AA Mutation	p.Arg267Trp(p.R267W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99235715:99235715(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.88G>A
AA Mutation	p.Ala30Thr(p.A30T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99235629:99235629(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.174G>T
AA Mutation	p.Lys58Asn(p.K58N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99232423:99232423(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.373T>C
AA Mutation	p.Phe125Leu(p.F125L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99235591:99235591(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.212T>C
AA Mutation	p.Val71Ala(p.V71A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	98459671:98459671(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs751015169
CDS Mutation	c.1682G>A
AA Mutation	p.Arg561His(p.R561H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	98721813:98721813(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759726862
CDS Mutation	c.800G>A
AA Mutation	p.Arg267Gln(p.R267Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99235691:99235691(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.112T>C
AA Mutation	p.Ser38Pro(p.S38P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	98459662:98459662(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1691G>T
AA Mutation	p.Arg564Leu(p.R564L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99235531:99235531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.272G>A
AA Mutation	p.Gly91Asp(p.G91D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370552
Start	98490128:98490128(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1389G>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370552
Start	98743962:98743962(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.705C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370552
Start	98641925:98641925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1020C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370552
Start	99235518:99235518(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.285C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000370552
Start	98721674:98721674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.939C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370552
Start	98614952:98614952(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1272delT
AA Mutation	p.Phe424LeufsTer28(p.F424Lfs*28)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370552
Start	99235746:99235746(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.57delC
AA Mutation	p.Ala20ArgfsTer3(p.A20Rfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	stop_gained
Transcription ID	ENST00000370552
Start	98459579:98459579(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369345201
CDS Mutation	c.1774C>T
AA Mutation	p.Arg592Ter(p.R592*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000370552
Start	99235745:99235746(version: GRCh38)
Mutation Type	INS
dbSNP_RS	rs778121647
CDS Mutation	c.57dupC
AA Mutation	p.Ala20ArgfsTer45(p.A20Rfs*45)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> HPSE2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	98482757:98482757(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1492A>C
AA Mutation	p.Thr498Pro(p.T498P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99144390:99144390(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767173222
CDS Mutation	c.458G>A
AA Mutation	p.Arg153Gln(p.R153Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	99235629:99235629(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.174G>T
AA Mutation	p.Lys58Asn(p.K58N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000370552
Start	98482722:98482722(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1527G>T
AA Mutation	p.Lys509Asn(p.K509N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript