Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SIRT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67912966:67912966(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1850C>T
AA Mutation	p.Ala617Val(p.A617V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67888930:67888930(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.596G>A
AA Mutation	p.Arg199Gln(p.R199Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67908060:67908060(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1105G>A
AA Mutation	p.Ala369Thr(p.A369T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67891422:67891422(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.810A>G
AA Mutation	p.Ile270Met(p.I270M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67916394:67916394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2045G>T
AA Mutation	p.Ser682Ile(p.S682I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67916373:67916373(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2024G>A
AA Mutation	p.Ser675Asn(p.S675N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67912663:67912663(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1547G>A
AA Mutation	p.Arg516Gln(p.R516Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000212015
Start	67887529:67887529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.543G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000212015
Start	67909321:67909322(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.1242dupT
AA Mutation	p.Gly415TrpfsTer2(p.G415Wfs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SIRT1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67912744:67912744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1628G>T
AA Mutation	p.Arg543Ile(p.R543I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67912954:67912954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1838G>A
AA Mutation	p.Arg613Lys(p.R613K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000212015
Start	67889049:67889049(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.715G>T
AA Mutation	p.Asp239Tyr(p.D239Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000212015
Start	67909294:67909294(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756204143
CDS Mutation	c.1209G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000212015
Start	67887430:67887430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773494159
CDS Mutation	c.444C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000212015
Start	67906790:67906790(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.943G>T
AA Mutation	p.Glu315Ter(p.E315*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	stop_gained
Transcription ID	ENST00000212015
Start	67912674:67912674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1558G>T
AA Mutation	p.Glu520Ter(p.E520*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript