Mutation

Primary Site >> Esophagus Cancer

Gene >> DMD

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32362892:32362892(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5221T>G
AA Mutation	p.Leu1741Val(p.L1741V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32485011:32485011(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2711C>A
AA Mutation	p.Pro904His(p.P904H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32463536:32463536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3335G>T
AA Mutation	p.Gly1112Val(p.G1112V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	31507341:31507341(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8330G>A
AA Mutation	p.Arg2777Lys(p.R2777K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32454822:32454822(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3443G>A
AA Mutation	p.Arg1148Lys(p.R1148K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32454675:32454675(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3590T>A
AA Mutation	p.Val1197Asp(p.V1197D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32364682:32364682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5054A>G
AA Mutation	p.Asp1685Gly(p.D1685G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	31206647:31206647(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756958090
CDS Mutation	c.9584G>A
AA Mutation	p.Arg3195His(p.R3195H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32472219:32472219(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2894C>A
AA Mutation	p.Pro965His(p.P965H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000357033
Start	32310105:32310105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6094T>G
AA Mutation	p.Phe2032Val(p.F2032V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000357033
Start	32485010:32485010(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2712C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000357033
Start	31134105:31134105(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11011A>C
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000357033
Start	32448529:32448529(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3713delA
AA Mutation	p.Lys1238ArgfsTer6(p.K1238Rfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	14
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000357033
Start	32699145:32699145(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.798delT
AA Mutation	p.Gln267SerfsTer16(p.Q267Sfs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript