Mutation

Primary Site >> Stomach Cancer

Gene >> SLC6A1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11017324:11017324(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.113C>T
AA Mutation	p.Ala38Val(p.A38V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11029284:11029284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1255C>T
AA Mutation	p.Arg419Cys(p.R419C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11025782:11025782(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.859G>C
AA Mutation	p.Asp287His(p.D287H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11036870:11036870(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1704A>C
AA Mutation	p.Gln568His(p.Q568H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11034654:11034654(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1651T>C
AA Mutation	p.Tyr551His(p.Y551H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11017257:11017257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.46G>A
AA Mutation	p.Glu16Lys(p.E16K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11022447:11022447(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.693G>T
AA Mutation	p.Lys231Asn(p.K231N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11036902:11036902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs780352868
CDS Mutation	c.1736G>A
AA Mutation	p.Arg579His(p.R579H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000287766
Start	11025512:11025512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.778A>G
AA Mutation	p.Thr260Ala(p.T260A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000287766
Start	11017265:11017265(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.54C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000287766
Start	11018680:11018680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.453G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000287766
Start	11017293:11017293(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.85delA
AA Mutation	p.Thr29ProfsTer55(p.T29Pfs*55)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	13
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000287766
Start	11031175:11031176(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1328dupG
AA Mutation	p.Ile444TyrfsTer8(p.X443_splice)
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	14
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000287766
Start	11017842:11017842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.239-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript