Mutation

Primary Site >> Stomach Cancer

Gene >> HEG1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125027402:125027402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772039855
CDS Mutation	c.716C>T
AA Mutation	p.Ala239Val(p.A239V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	124970708:124970708(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4090G>A
AA Mutation	p.Gly1364Arg(p.G1364R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125002296:125002296(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3317C>T
AA Mutation	p.Ala1106Val(p.A1106V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125009766:125009766(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3132G>T
AA Mutation	p.Gln1044His(p.Q1044H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125012938:125012938(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2641C>T
AA Mutation	p.Leu881Phe(p.L881F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125012628:125012628(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2951C>T
AA Mutation	p.Ala984Val(p.A984V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125013048:125013048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2531C>T
AA Mutation	p.Thr844Ile(p.T844I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125009771:125009771(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3127A>G
AA Mutation	p.Thr1043Ala(p.T1043A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000311127
Start	125012769:125012769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2810A>G
AA Mutation	p.Tyr937Cys(p.Y937C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000311127
Start	125013248:125013248(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2331C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000311127
Start	125002295:125002295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs367597816
CDS Mutation	c.3318G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000311127
Start	124997693:124997693(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3648C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	stop_gained
Transcription ID	ENST00000311127
Start	125021014:125021014(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1030C>T
AA Mutation	p.Arg344Ter(p.R344*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000311127
Start	125020963:125020964(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1080dupC
AA Mutation	p.Lys361GlnfsTer26(p.K361Qfs*26)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000311127
Start	125020835:125020836(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.1208dupA
AA Mutation	p.Asn403LysfsTer2(p.N403Kfs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript