Mutation

Primary Site >> Esophagus Cancer

Gene >> CSMD3

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112265434:112265434(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9665G>C
AA Mutation	p.Ser3222Thr(p.S3222T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000297405
Start	112313908:112313908(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7694T>A
AA Mutation	p.Ile2565Lys(p.I2565K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112289440:112289440(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs775065918
CDS Mutation	c.9073C>T
AA Mutation	p.Arg3025Cys(p.R3025C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112295999:112295999(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8448T>A
AA Mutation	p.His2816Gln(p.H2816Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112650200:112650200(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3154A>G
AA Mutation	p.Lys1052Glu(p.K1052E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112281343:112281343(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9339G>C
AA Mutation	p.Gln3113His(p.Q3113H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112244550:112244550(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10246A>C
AA Mutation	p.Thr3416Pro(p.T3416P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112265548:112265548(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9551G>C
AA Mutation	p.Arg3184Thr(p.R3184T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113314640:113314640(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.332C>G
AA Mutation	p.Ala111Gly(p.A111G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112237271:112237271(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10546T>G
AA Mutation	p.Leu3516Val(p.L3516V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112255263:112255263(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10027C>T
AA Mutation	p.His3343Tyr(p.H3343Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112650208:112650208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3146T>C
AA Mutation	p.Leu1049Pro(p.L1049P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112666380:112666380(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2713G>T
AA Mutation	p.Val905Leu(p.V905L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112287130:112287130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754162249
CDS Mutation	c.9265C>T
AA Mutation	p.His3089Tyr(p.H3089Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113278661:113278661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.445T>G
AA Mutation	p.Ser149Ala(p.S149A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113098905:113098905(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.768T>G
AA Mutation	p.Ser256Arg(p.S256R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112408942:112408942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5486C>A
AA Mutation	p.Ser1829Tyr(p.S1829Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113314613:113314613(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.359C>T
AA Mutation	p.Ser120Leu(p.S120L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112237299:112237299(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10518T>G
AA Mutation	p.Asn3506Lys(p.N3506K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112556807:112556807(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4190C>T
AA Mutation	p.Thr1397Ile(p.T1397I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112352495:112352495(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6176G>T
AA Mutation	p.Ser2059Ile(p.S2059I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112335416:112335416(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7078G>C
AA Mutation	p.Glu2360Gln(p.E2360Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112503963:112503963(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4910C>G
AA Mutation	p.Pro1637Arg(p.P1637R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112517079:112517079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4711G>A
AA Mutation	p.Val1571Ile(p.V1571I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112301918:112301918(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8315G>A
AA Mutation	p.Gly2772Glu(p.G2772E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112666329:112666329(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2764G>A
AA Mutation	p.Glu922Lys(p.E922K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113436748:113436748(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.107A>C
AA Mutation	p.Lys36Thr(p.K36T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112380402:112380402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6086T>G
AA Mutation	p.Phe2029Cys(p.F2029C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112304729:112304729(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8258A>G
AA Mutation	p.Tyr2753Cys(p.Y2753C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112244508:112244508(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10288C>T
AA Mutation	p.His3430Tyr(p.H3430Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	113098824:113098824(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.849T>G
AA Mutation	p.Phe283Leu(p.F283L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112314594:112314594(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199998952
CDS Mutation	c.7384C>T
AA Mutation	p.Arg2462Trp(p.R2462W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112346111:112346111(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6428T>C
AA Mutation	p.Leu2143Pro(p.L2143P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000297405
Start	112335338:112335338(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7156A>C
AA Mutation	p.Ser2386Arg(p.S2386R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112517209:112517209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs563110439
CDS Mutation	c.4581G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112336731:112336731(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6940A>C
Mutation Classification	Silent
Feature Type	Transcript

ID	37
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000297405
Start	112255291:112255291(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9999A>T
Mutation Classification	Silent
Feature Type	Transcript

ID	38
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112503799:112503799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5074G>T
AA Mutation	p.Glu1692Ter(p.E1692*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	39
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112337627:112337627(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6757G>T
AA Mutation	p.Gly2253Ter(p.G2253*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	40
Mutation Consequence	stop_gained
Transcription ID	ENST00000297405
Start	112550785:112550785(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4450G>T
AA Mutation	p.Glu1484Ter(p.E1484*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript