Mutation

Primary Site >> Esophagus Cancer

Gene >> APOB

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21010349:21010349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6519A>C
AA Mutation	p.Gln2173His(p.Q2173H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21003242:21003242(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12180A>C
AA Mutation	p.Glu4060Asp(p.E4060D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21007929:21007929(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8939C>G
AA Mutation	p.Ser2980Cys(p.S2980C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21004411:21004411(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747463777
CDS Mutation	c.11945C>T
AA Mutation	p.Ala3982Val(p.A3982V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21011749:21011749(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5119G>A
AA Mutation	p.Glu1707Lys(p.E1707K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21006805:21006805(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs776374541
CDS Mutation	c.10063G>A
AA Mutation	p.Glu3355Lys(p.E3355K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21006807:21006807(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs61742331
CDS Mutation	c.10061C>G
AA Mutation	p.Ala3354Gly(p.A3354G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21009991:21009991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6877G>A
AA Mutation	p.Asp2293Asn(p.D2293N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21006645:21006645(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10223G>T
AA Mutation	p.Gly3408Val(p.G3408V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21009031:21009031(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7837C>A
AA Mutation	p.Gln2613Lys(p.Q2613K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21034852:21034852(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.868G>A
AA Mutation	p.Asp290Asn(p.D290N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21008838:21008838(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8030A>C
AA Mutation	p.Asp2677Ala(p.D2677A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000233242
Start	21006100:21006100(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10768G>C
AA Mutation	p.Glu3590Gln(p.E3590Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233242
Start	21008495:21008495(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8373T>G
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233242
Start	21007058:21007058(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138010392
CDS Mutation	c.9810C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233242
Start	21012569:21012569(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs376103623
CDS Mutation	c.4299G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233242
Start	21015464:21015464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140456702
CDS Mutation	c.3414C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000233242
Start	21011801:21011801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5067C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	stop_gained
Transcription ID	ENST00000233242
Start	21009798:21009798(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7070T>A
AA Mutation	p.Leu2357Ter(p.L2357*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000233242
Start	21009310:21009310(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs746483297
CDS Mutation	c.7558C>T
AA Mutation	p.Arg2520Ter(p.R2520*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000233242
Start	21007235:21007236(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.9632dupA
AA Mutation	p.Asn3211LysfsTer14(p.N3211Kfs*14)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	22
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000233242
Start	21037257:21037257(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.538-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript