Mutation

Primary Site >> Stomach Cancer

Gene >> GBA

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155239961:155239961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs146774384
CDS Mutation	c.232C>T
AA Mutation	p.Arg78Cys(p.R78C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155235256:155235256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs75671029
CDS Mutation	c.1444G>A
AA Mutation	p.Asp482Asn(p.D482N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155237394:155237394(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.946C>T
AA Mutation	p.Arg316Cys(p.R316C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155235226:155235226(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs779958429
CDS Mutation	c.1474G>A
AA Mutation	p.Asp492Asn(p.D492N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155235244:155235244(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1456G>T
AA Mutation	p.Val486Leu(p.V486L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155239636:155239636(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.434A>G
AA Mutation	p.Lys145Arg(p.K145R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155238591:155238591(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.514T>C
AA Mutation	p.Tyr172His(p.Y172H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155239934:155239934(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs1141814
CDS Mutation	c.259C>T
AA Mutation	p.Arg87Trp(p.R87W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155240038:155240038(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.155C>T
AA Mutation	p.Ser52Leu(p.S52L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155235802:155235802(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1267G>T
AA Mutation	p.Ala423Ser(p.A423S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000327247
Start	155239630:155239630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.440A>G
AA Mutation	p.Tyr147Cys(p.Y147C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000327247
Start	155237401:155237401(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.939C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327247
Start	155239990:155239990(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.203delC
AA Mutation	p.Pro68ArgfsTer23(p.P68Rfs*23)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000327247
Start	155240025:155240026(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.166_167dupGT
AA Mutation	p.Cys57SerfsTer35(p.C57Sfs*35)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript