Colon Cancer: Gene >> PCSK7

Mutation ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000320934
Start	117209053:117209053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1535T>C
AA Mutation	p.Val512Ala(p.V512A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117219623:117219623(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746646858
CDS Mutation	c.1291G>A
AA Mutation	p.Val431Ile(p.V431I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117219101:117219101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1387G>A
AA Mutation	p.Gly463Ser(p.G463S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117225998:117225998(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.793C>T
AA Mutation	p.Leu265Phe(p.L265F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117223287:117223287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747236462
CDS Mutation	c.1076G>A
AA Mutation	p.Arg359His(p.R359H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117218501:117218501(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781110023
CDS Mutation	c.1499C>T
AA Mutation	p.Pro500Leu(p.P500L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117229562:117229562(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.283C>G
AA Mutation	p.His95Asp(p.H95D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117229489:117229489(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.356C>T
AA Mutation	p.Ala119Val(p.A119V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117226007:117226007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.784G>A
AA Mutation	p.Asp262Asn(p.D262N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117219155:117219155(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757871447
CDS Mutation	c.1333C>T
AA Mutation	p.Arg445Cys(p.R445C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117227187:117227187(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs760392010
CDS Mutation	c.739G>A
AA Mutation	p.Val247Met(p.V247M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117206752:117206752(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1927G>A
AA Mutation	p.Ala643Thr(p.A643T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000320934
Start	117219718:117219718(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1196C>T
AA Mutation	p.Thr399Ile(p.T399I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000320934
Start	117228318:117228318(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs149669976
CDS Mutation	c.501C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000320934
Start	117227182:117227182(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138324399
CDS Mutation	c.744C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000320934
Start	117224145:117224145(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745605376
CDS Mutation	c.987C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000320934
Start	117208910:117208910(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1678delC
AA Mutation	p.Arg560AlafsTer51(p.R560Afs*51)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000320934
Start	117206693:117206693(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1986delC
AA Mutation	p.Asn663ThrfsTer9(p.N663Tfs*9)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000320934
Start	117207162:117207162(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1787-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	start_lost
Transcription ID	ENST00000320934
Start	117229844:117229844(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1A>C
AA Mutation	p.Met1?(p.M1?)
Mutation Classification	Translation_Start_Site
Feature Type	Transcript

Rectum Cancer: Gene >> PCSK7

No Mutation Annotation!