Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> JAG1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10640828:10640828(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375200637
CDS Mutation	c.3154G>A
AA Mutation	p.Val1052Ile(p.V1052I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10652499:10652499(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.855G>C
AA Mutation	p.Glu285Asp(p.E285D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000254958
Start	10649062:10649062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs558315798
CDS Mutation	c.1394G>A
AA Mutation	p.Arg465Gln(p.R465Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10672855:10672855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.233G>A
AA Mutation	p.Cys78Tyr(p.C78Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10650258:10650258(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773039210
CDS Mutation	c.1223C>T
AA Mutation	p.Thr408Met(p.T408M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10639781:10639781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3374C>A
AA Mutation	p.Pro1125His(p.P1125H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10648086:10648086(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1594A>T
AA Mutation	p.Asn532Tyr(p.N532Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10641160:10641160(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200593413
CDS Mutation	c.3001G>A
AA Mutation	p.Ala1001Thr(p.A1001T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10652540:10652540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148990028
CDS Mutation	c.814G>A
AA Mutation	p.Val272Ile(p.V272I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10639764:10639764(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769242977
CDS Mutation	c.3391G>A
AA Mutation	p.Ala1131Thr(p.A1131T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10649072:10649072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201667840
CDS Mutation	c.1384G>A
AA Mutation	p.Ala462Thr(p.A462T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10641802:10641802(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2663G>T
AA Mutation	p.Gly888Val(p.G888V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10645419:10645419(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2050G>A
AA Mutation	p.Asp684Asn(p.D684N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10652587:10652587(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.767G>A
AA Mutation	p.Gly256Asp(p.G256D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10639634:10639634(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775363555
CDS Mutation	c.3521C>T
AA Mutation	p.Pro1174Leu(p.P1174L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10652534:10652534(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.820G>A
AA Mutation	p.Gly274Ser(p.G274S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10648025:10648025(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1655C>A
AA Mutation	p.Pro552His(p.P552H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10641547:10641547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs546984480
CDS Mutation	c.2829G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10658610:10658610(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375199216
CDS Mutation	c.552C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10639762:10639762(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3393C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10644918:10644918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777219765
CDS Mutation	c.2289C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10641637:10641637(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766479402
CDS Mutation	c.2739C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10646050:10646050(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372121353
CDS Mutation	c.1920C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10652547:10652547(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753646278
CDS Mutation	c.807G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10644903:10644903(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs755427292
CDS Mutation	c.2304C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10648654:10648654(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374629171
CDS Mutation	c.1464C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10645204:10645204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2166T>C
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> JAG1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10641127:10641127(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3034A>C
AA Mutation	p.Ile1012Leu(p.I1012L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10645431:10645431(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2038G>A
AA Mutation	p.Gly680Ser(p.G680S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10658611:10658611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121918351
CDS Mutation	c.551G>A
AA Mutation	p.Arg184His(p.R184H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10649072:10649072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201667840
CDS Mutation	c.1384G>A
AA Mutation	p.Ala462Thr(p.A462T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript