Mutation

Primary Site >> Esophagus Cancer

Gene >> SMARCA4

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11013017:11013017(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2343G>T
AA Mutation	p.Met781Ile(p.M781I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11021837:11021837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2729C>T
AA Mutation	p.Thr910Met(p.T910M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11021729:11021729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2621G>A
AA Mutation	p.Arg874His(p.R874H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11023554:11023554(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2896C>T
AA Mutation	p.Arg966Trp(p.R966W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11026333:11026333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765857427
CDS Mutation	c.3202G>A
AA Mutation	p.Gly1068Ser(p.G1068S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033470:11033470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3727C>T
AA Mutation	p.Arg1243Trp(p.R1243W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033317:11033317(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3574C>T
AA Mutation	p.Arg1192Cys(p.R1192C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	10986537:10986537(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.704G>A
AA Mutation	p.Gly235Asp(p.G235D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11033375:11033375(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3632A>C
AA Mutation	p.Glu1211Ala(p.E1211A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000344626
Start	11041469:11041469(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775399739
CDS Mutation	c.4333C>T
AA Mutation	p.Arg1445Trp(p.R1445W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000344626
Start	10989428:10989428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1230G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000344626
Start	11030822:11030822(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3480delG
AA Mutation	p.Leu1161SerfsTer3(p.L1161Sfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript