Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HBP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000222574
Start	107200258:107200258(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1484A>C
AA Mutation	p.Lys495Thr(p.K495T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000222574
Start	107186383:107186383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.563G>A
AA Mutation	p.Gly188Asp(p.G188D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000222574
Start	107195929:107195929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1163G>A
AA Mutation	p.Gly388Asp(p.G388D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000222574
Start	107182558:107182558(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.355A>G
AA Mutation	p.Thr119Ala(p.T119A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000222574
Start	107186466:107186467(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.646_647insAAAATATACCTTTTAATATC
AA Mutation	p.Leu216Ter(p.L216*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> HBP1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000222574
Start	107190289:107190289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1039G>T
AA Mutation	p.Asp347Tyr(p.D347Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000222574
Start	107182467:107182467(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.264A>C
AA Mutation	p.Arg88Ser(p.R88S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000222574
Start	107190271:107190271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753601120
CDS Mutation	c.1021G>A
AA Mutation	p.Asp341Asn(p.D341N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript