Mutation

Primary Site >> Stomach Cancer

Gene >> CHD8

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21391527:21391527(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373946888
CDS Mutation	c.7001G>A
AA Mutation	p.Arg2334Gln(p.R2334Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21427993:21427993(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774630592
CDS Mutation	c.1477C>T
AA Mutation	p.Arg493Trp(p.R493W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21428121:21428121(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs774081833
CDS Mutation	c.1349G>A
AA Mutation	p.Arg450His(p.R450H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21400578:21400578(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs375862520
CDS Mutation	c.4405C>T
AA Mutation	p.Arg1469Cys(p.R1469C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000399982
Start	21391464:21391464(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752792676
CDS Mutation	c.7064C>T
AA Mutation	p.Ala2355Val(p.A2355V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21395057:21395057(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5245C>T
AA Mutation	p.Leu1749Phe(p.L1749F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21392611:21392611(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6667T>C
AA Mutation	p.Ser2223Pro(p.S2223P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21394129:21394129(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777867742
CDS Mutation	c.5666G>A
AA Mutation	p.Arg1889His(p.R1889H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21428053:21428053(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1417C>T
AA Mutation	p.Arg473Cys(p.R473C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21427950:21427950(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1520C>T
AA Mutation	p.Ala507Val(p.A507V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21415739:21415739(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs757161902
CDS Mutation	c.1885A>G
AA Mutation	p.Met629Val(p.M629V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000399982
Start	21393691:21393691(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374379959
CDS Mutation	c.6104G>A
AA Mutation	p.Arg2035Gln(p.R2035Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399982
Start	21429327:21429327(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765203840
CDS Mutation	c.852G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399982
Start	21408438:21408438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2604G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399982
Start	21408396:21408396(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200953445
CDS Mutation	c.2646A>C
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399982
Start	21391902:21391902(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369570478
CDS Mutation	c.6816G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399982
Start	21393816:21393816(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5979T>G
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000399982
Start	21427964:21427964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1506C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399982
Start	21400267:21400267(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4611delA
AA Mutation	p.Val1538Ter(p.V1538*)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399982
Start	21405397:21405397(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3119delA
AA Mutation	p.Asn1040ThrfsTer12(p.N1040Tfs*12)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000399982
Start	21393680:21393680(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6115C>T
AA Mutation	p.Gln2039Ter(p.Q2039*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000399982
Start	21400605:21400605(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4378C>T
AA Mutation	p.Arg1460Ter(p.R1460*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399982
Start	21428194:21428195(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1275dupT
AA Mutation	p.Glu426Ter(p.E426*)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	24
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399982
Start	21394071:21394072(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.5723_5724insCTCTTCCTCCATTGCAATTCCCCTG
AA Mutation	p.Arg1909SerfsTer19(p.R1909Sfs*19)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	25
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000399982
Start	21402418:21402419(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3798_3799dupGA
AA Mutation	p.Met1267ArgfsTer20(p.M1267Rfs*20)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	26
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000399982
Start	21402444:21402445(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.3762_3773dupGTACCGCCTCAT
AA Mutation	p.Leu1257_Ile1258insMetTyrArgLeu(p.L1257_I1258insMYRL)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript