Mutation

Primary Site >> Esophagus Cancer

Gene >> NOTCH1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136508101:136508101(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3364T>A
AA Mutation	p.Cys1122Ser(p.C1122S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136505314:136505314(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4582T>C
AA Mutation	p.Cys1528Arg(p.C1528R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136517887:136517887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1306T>C
AA Mutation	p.Phe436Leu(p.F436L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136518597:136518597(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1093C>T
AA Mutation	p.Arg365Cys(p.R365C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136514699:136514699(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2018G>C
AA Mutation	p.Ser673Thr(p.S673T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136503262:136503262(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5087C>T
AA Mutation	p.Ala1696Val(p.A1696V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000277541
Start	136517365:136517365(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753661188
CDS Mutation	c.1462G>A
AA Mutation	p.Glu488Lys(p.E488K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136497094:136497094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745339419
CDS Mutation	c.6645G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000277541
Start	136517828:136517828(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1365G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136505334:136505337(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4559_4562delACTG
AA Mutation	p.Asp1520AlafsTer59(p.D1520Afs*59)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	11
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136518779:136518779(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.911delA
AA Mutation	p.Asn304MetfsTer327(p.N304Mfs*327)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136505842:136505842(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4054delT
AA Mutation	p.Cys1352AlafsTer93(p.C1352Afs*93)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136504950:136504972(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.4719_4741delGCTGGTGGTGGTGGTGCTGATGC
AA Mutation	p.Leu1574AlafsTer28(p.L1574Afs*28)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	14
Mutation Consequence	stop_gained
Transcription ID	ENST00000277541
Start	136506737:136506737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3880G>T
AA Mutation	p.Glu1294Ter(p.E1294*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000277541
Start	136516000:136516000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1650C>G
AA Mutation	p.Tyr550Ter(p.Y550*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136509924:136509925(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2777dupT
AA Mutation	p.Asn927GlnfsTer17(p.N927Qfs*17)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	17
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136523124:136523125(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.467dupT
AA Mutation	p.Pro157AlafsTer99(p.P157Afs*99)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	18
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000277541
Start	136523864:136523865(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.255dupT
AA Mutation	p.Ala86CysfsTer57(p.A86Cfs*57)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	19
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000277541
Start	136503180:136503180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5167+2T>C
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	20
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000277541
Start	136518590:136518590(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1099+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript