Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PRKG1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52288937:52288937(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1794T>A
AA Mutation	p.Asn598Lys(p.N598K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52062592:52062592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.851T>C
AA Mutation	p.Leu284Ser(p.L284S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000373985
Start	51907570:51907570(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.717G>T
AA Mutation	p.Glu239Asp(p.E239D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52133877:52133877(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.928G>T
AA Mutation	p.Ala310Ser(p.A310S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52062588:52062588(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.847A>G
AA Mutation	p.Thr283Ala(p.T283A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52054529:52054529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.763G>T
AA Mutation	p.Gly255Trp(p.G255W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	51153262:51153262(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.365T>C
AA Mutation	p.Val122Ala(p.V122A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52288745:52288745(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1684G>A
AA Mutation	p.Asp562Asn(p.D562N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373985
Start	52054504:52054504(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.738A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000373985
Start	52161908:52161908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.976G>T
AA Mutation	p.Gly326Ter(p.G326*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Rectum Cancer: Gene >> PRKG1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	51804679:51804679(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.642A>C
AA Mutation	p.Glu214Asp(p.E214D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52288977:52288977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1834G>T
AA Mutation	p.Asp612Tyr(p.D612Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000373985
Start	51467835:51467835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.546G>T
AA Mutation	p.Lys182Asn(p.K182N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52272471:52272471(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1348C>A
AA Mutation	p.Leu450Ile(p.L450I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52288974:52288974(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1831A>C
AA Mutation	p.Lys611Gln(p.K611Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	50991474:50991474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.96A>C
AA Mutation	p.Glu32Asp(p.E32D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000373985
Start	52251589:52251589(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1051T>G
AA Mutation	p.Phe351Val(p.F351V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000373985
Start	52133861:52133861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.912C>T
Mutation Classification	Silent
Feature Type	Transcript