Mutation

Primary Site >> Stomach Cancer

Gene >> EFEMP1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55917715:55917715(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370831953
CDS Mutation	c.467G>A
AA Mutation	p.Arg156His(p.R156H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55871051:55871051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372748426
CDS Mutation	c.1073G>A
AA Mutation	p.Arg358His(p.R358H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55871091:55871091(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121434491
CDS Mutation	c.1033C>T
AA Mutation	p.Arg345Trp(p.R345W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55922410:55922410(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.31A>G
AA Mutation	p.Thr11Ala(p.T11A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55917994:55917994(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.188A>G
AA Mutation	p.Asn63Ser(p.N63S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55922430:55922430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11C>T
AA Mutation	p.Ala4Val(p.A4V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000355426
Start	55917775:55917775(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs773783473
CDS Mutation	c.407A>C
AA Mutation	p.Asn136Thr(p.N136T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000355426
Start	55871059:55871059(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1065C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	9
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000355426
Start	55867234:55867235(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1321-1_1321insGAAATGAAAATGGAGAGTTCTACCTACGA
AA Mutation	p.Gln441GlufsTer15(p.Q441Efs*15)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	10
Mutation Consequence	splice_acceptor_variant;splice_donor_variant;intron_variant
Transcription ID	ENST00000355426
Start	55870916:55870999(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1125-1_1124+1delGTAAGAAAAATCAGAACTTTTGAAAGTGAGGATTTTCTGGTCTTACCAAGCCAAACTGCTGAATACTTTTGTTTGTCTCTGCAG
Mutation Classification	Splice_Site
Feature Type	Transcript