Mutation

Primary Site >> Stomach Cancer

Gene >> JAG1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10648614:10648614(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1504T>C
AA Mutation	p.Cys502Arg(p.C502R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10639866:10639866(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768554175
CDS Mutation	c.3289C>T
AA Mutation	p.Arg1097Trp(p.R1097W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10646034:10646034(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748640724
CDS Mutation	c.1936G>A
AA Mutation	p.Asp646Asn(p.D646N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10641672:10641672(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2704T>C
AA Mutation	p.Cys902Arg(p.C902R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10645997:10645997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1973G>A
AA Mutation	p.Gly658Asp(p.G658D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10658480:10658480(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.682G>A
AA Mutation	p.Glu228Lys(p.E228K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10672747:10672747(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.341G>A
AA Mutation	p.Gly114Asp(p.G114D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
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

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10641674:10641674(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2702C>A
AA Mutation	p.Pro901His(p.P901H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10648053:10648053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375017114
CDS Mutation	c.1627C>T
AA Mutation	p.Arg543Cys(p.R543C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
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

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10645977:10645977(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1993G>A
AA Mutation	p.Glu665Lys(p.E665K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10672871:10672871(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.217A>G
AA Mutation	p.Thr73Ala(p.T73A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10648595:10648595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1523G>A
AA Mutation	p.Arg508Lys(p.R508K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000254958
Start	10643831:10643831(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2405A>G
AA Mutation	p.Asn802Ser(p.N802S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10648600:10648600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1518C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10645231:10645231(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374177670
CDS Mutation	c.2139G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10639744:10639744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3411G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254958
Start	10639585:10639585(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201572666
CDS Mutation	c.3570G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000254958
Start	10639597:10639597(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3558delC
AA Mutation	p.Asn1187ThrfsTer25(p.N1187Tfs*25)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000254958
Start	10645986:10645986(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1984delG
AA Mutation	p.Ala662ProfsTer81(p.A662Pfs*81)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript