Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HSD17B2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82068238:82068238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752344353
CDS Mutation	c.334G>A
AA Mutation	p.Gly112Arg(p.G112R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82068295:82068295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369773984
CDS Mutation	c.391C>T
AA Mutation	p.Arg131Cys(p.R131C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82068296:82068296(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373965697
CDS Mutation	c.392G>A
AA Mutation	p.Arg131His(p.R131H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82068242:82068242(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.338T>C
AA Mutation	p.Val113Ala(p.V113A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82035513:82035513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.89G>A
AA Mutation	p.Ser30Asn(p.S30N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82035548:82035548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.124G>A
AA Mutation	p.Ala42Thr(p.A42T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000199936
Start	82035586:82035586(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.162T>C
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> HSD17B2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82098098:82098098(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.826T>C
AA Mutation	p.Trp276Arg(p.W276R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000199936
Start	82071095:82071095(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.632A>G
AA Mutation	p.Lys211Arg(p.K211R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000199936
Start	82035460:82035460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.36C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	stop_gained
Transcription ID	ENST00000199936
Start	82035650:82035650(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764096657
CDS Mutation	c.226G>T
AA Mutation	p.Glu76Ter(p.E76*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript