Mutation

Primary Site >> Stomach Cancer

Gene >> EPB41L4B

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109256460:109256460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs201249269
CDS Mutation	c.773C>T
AA Mutation	p.Ala258Val(p.A258V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109267509:109267509(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.497C>A
AA Mutation	p.Ser166Tyr(p.S166Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109251491:109251491(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1300G>A
AA Mutation	p.Ala434Thr(p.A434T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109194320:109194320(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2123C>T
AA Mutation	p.Ala708Val(p.A708V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109279842:109279842(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.386A>G
AA Mutation	p.Gln129Arg(p.Q129R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109253546:109253546(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781369450
CDS Mutation	c.1174C>T
AA Mutation	p.Arg392Trp(p.R392W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109256141:109256141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.924C>A
AA Mutation	p.Phe308Leu(p.F308L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109279834:109279834(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs534840539
CDS Mutation	c.394G>A
AA Mutation	p.Asp132Asn(p.D132N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109267485:109267485(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.521A>G
AA Mutation	p.Glu174Gly(p.E174G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000374566
Start	109216922:109216922(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1633A>G
AA Mutation	p.Lys545Glu(p.K545E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109265017:109265017(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.541T>A
AA Mutation	p.Phe181Ile(p.F181I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109255524:109255524(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746270390
CDS Mutation	c.1156C>T
AA Mutation	p.Arg386Cys(p.R386C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109267519:109267519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.487A>G
AA Mutation	p.Lys163Glu(p.K163E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109185531:109185531(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2376G>T
AA Mutation	p.Glu792Asp(p.E792D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109279845:109279845(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.383T>G
AA Mutation	p.Leu128Arg(p.L128R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000374566
Start	109256463:109256463(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.770A>C
AA Mutation	p.Gln257Pro(p.Q257P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374566
Start	109255666:109255666(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1014G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000374566
Start	109255594:109255594(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376508651
CDS Mutation	c.1086C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000374566
Start	109279906:109279906(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.322delC
AA Mutation	p.Gln108ArgfsTer39(p.Q108Rfs*39)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000374566
Start	109185500:109185500(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2407A>T
AA Mutation	p.Lys803Ter(p.K803*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000374566
Start	109207923:109207923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1878+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript