Mutation

Primary Site >> Esophagus Cancer

Gene >> TP53

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673803:7673803(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121913343
CDS Mutation	c.817C>T
AA Mutation	p.Arg273Cys(p.R273C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674230:7674230(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs28934575
CDS Mutation	c.733G>A
AA Mutation	p.Gly245Ser(p.G245S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7669622:7669622(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1169C>A
AA Mutation	p.Pro390His(p.P390H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674220:7674220(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs11540652
CDS Mutation	c.743G>A
AA Mutation	p.Arg248Gln(p.R248Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675208:7675208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587781991
CDS Mutation	c.404G>A
AA Mutation	p.Cys135Tyr(p.C135Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675088:7675088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs28934578
CDS Mutation	c.524G>A
AA Mutation	p.Arg175His(p.R175H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673776:7673776(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs28934574
CDS Mutation	c.844C>T
AA Mutation	p.Arg282Trp(p.R282W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674872:7674872(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912666
CDS Mutation	c.659A>G
AA Mutation	p.Tyr220Cys(p.Y220C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673787:7673787(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.833C>A
AA Mutation	p.Pro278His(p.P278H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675083:7675083(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147002414
CDS Mutation	c.529C>T
AA Mutation	p.Pro177Ser(p.P177S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675139:7675139(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587782144
CDS Mutation	c.473G>A
AA Mutation	p.Arg158His(p.R158H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675208:7675208(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.404G>T
AA Mutation	p.Cys135Phe(p.C135F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673788:7673788(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs17849781
CDS Mutation	c.832C>G
AA Mutation	p.Pro278Ala(p.P278A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675184:7675184(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.428T>C
AA Mutation	p.Val143Ala(p.V143A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675085:7675085(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs786202962
CDS Mutation	c.527G>A
AA Mutation	p.Cys176Tyr(p.C176Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674221:7674221(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912651
CDS Mutation	c.742C>T
AA Mutation	p.Arg248Trp(p.R248W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675161:7675161(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs28934874
CDS Mutation	c.451C>T
AA Mutation	p.Pro151Ser(p.P151S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673776:7673776(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs28934574
CDS Mutation	c.844C>G
AA Mutation	p.Arg282Gly(p.R282G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675089:7675089(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138729528
CDS Mutation	c.523C>G
AA Mutation	p.Arg175Gly(p.R175G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7676041:7676041(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587781371
CDS Mutation	c.328C>T
AA Mutation	p.Arg110Cys(p.R110C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674884:7674884(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.647T>A
AA Mutation	p.Val216Glu(p.V216E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673800:7673800(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.820G>C
AA Mutation	p.Val274Leu(p.V274L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673802:7673802(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs28934576
CDS Mutation	c.818G>A
AA Mutation	p.Arg273His(p.R273H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675139:7675139(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.473G>T
AA Mutation	p.Arg158Leu(p.R158L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7676040:7676040(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs11540654
CDS Mutation	c.329G>T
AA Mutation	p.Arg110Leu(p.R110L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675199:7675199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs750600586
CDS Mutation	c.413C>T
AA Mutation	p.Ala138Val(p.A138V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675124:7675124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs148924904
CDS Mutation	c.488A>G
AA Mutation	p.Tyr163Cys(p.Y163C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673806:7673806(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912657
CDS Mutation	c.814G>A
AA Mutation	p.Val272Met(p.V272M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675092:7675092(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.520A>T
AA Mutation	p.Arg174Trp(p.R174W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674873:7674873(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.658T>G
AA Mutation	p.Tyr220Asp(p.Y220D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675077:7675077(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587780070
CDS Mutation	c.535C>T
AA Mutation	p.His179Tyr(p.H179Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673799:7673799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.821T>G
AA Mutation	p.Val274Gly(p.V274G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675097:7675097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.515T>A
AA Mutation	p.Val172Asp(p.V172D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674241:7674241(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs28934573
CDS Mutation	c.722C>T
AA Mutation	p.Ser241Phe(p.S241F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674252:7674252(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.711G>T
AA Mutation	p.Met237Ile(p.M237I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675094:7675094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.518T>G
AA Mutation	p.Val173Gly(p.V173G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675085:7675085(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.527G>T
AA Mutation	p.Cys176Phe(p.C176F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673796:7673796(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.824G>T
AA Mutation	p.Cys275Phe(p.C275F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674229:7674229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912656
CDS Mutation	c.734G>T
AA Mutation	p.Gly245Val(p.G245V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674917:7674917(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.614A>G
AA Mutation	p.Tyr205Cys(p.Y205C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674227:7674227(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs483352695
CDS Mutation	c.736A>G
AA Mutation	p.Met246Val(p.M246V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675076:7675076(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.536A>G
AA Mutation	p.His179Arg(p.H179R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675160:7675160(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.452C>A
AA Mutation	p.Pro151His(p.P151H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674953:7674953(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs786201838
CDS Mutation	c.578A>G
AA Mutation	p.His193Arg(p.H193R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674942:7674942(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.589G>T
AA Mutation	p.Val197Leu(p.V197L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674238:7674238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912655
CDS Mutation	c.725G>A
AA Mutation	p.Cys242Tyr(p.C242Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673766:7673766(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912667
CDS Mutation	c.854A>T
AA Mutation	p.Glu285Val(p.E285V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675209:7675209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.403T>C
AA Mutation	p.Cys135Arg(p.C135R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7676043:7676043(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.326T>C
AA Mutation	p.Phe109Ser(p.F109S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673781:7673781(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.839G>A
AA Mutation	p.Arg280Lys(p.R280K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675224:7675224(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.388C>G
AA Mutation	p.Leu130Val(p.L130V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7676051:7676051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.318C>G
AA Mutation	p.Ser106Arg(p.S106R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7676032:7676032(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs587781642
CDS Mutation	c.337T>G
AA Mutation	p.Phe113Val(p.F113V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7673788:7673788(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.832C>T
AA Mutation	p.Pro278Ser(p.P278S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	55
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675210:7675210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.402T>A
AA Mutation	p.Phe134Leu(p.F134L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7674948:7674948(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.583A>T
AA Mutation	p.Ile195Phe(p.I195F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675109:7675109(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.503A>G
AA Mutation	p.His168Arg(p.H168R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000269305
Start	7675143:7675143(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121912654
CDS Mutation	c.469G>T
AA Mutation	p.Val157Phe(p.V157F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	59
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000269305
Start	7674210:7674210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.753C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	60
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7674209:7674209(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.754delC
AA Mutation	p.Leu252SerfsTer93(p.L252Sfs*93)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	61
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7669621:7669621(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.1170delT
AA Mutation	p.Asp391ThrfsTer31(p.D391Tfs*31)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	62
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7674277:7674277(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.686delG
AA Mutation	p.Cys229LeufsTer18(p.C229Lfs*18)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	63
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7675229:7675229(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.383delC
AA Mutation	p.Pro128LeufsTer42(p.P128Lfs*42)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	64
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7673819:7673823(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.797_801delGACGG
AA Mutation	p.Gly266GlufsTer4(p.G266Efs*4)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	65
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7675151:7675151(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.461delG
AA Mutation	p.Gly154AlafsTer16(p.G154Afs*16)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	66
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7674185:7674192(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.771_778delGGAAGACT
AA Mutation	p.Glu258GlnfsTer3(p.E258Qfs*3)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	67
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7674240:7674240(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.723delC
AA Mutation	p.Cys242AlafsTer5(p.C242Afs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	68
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7675121:7675121(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.491delA
AA Mutation	p.Lys164SerfsTer6(p.K164Sfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	69
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7673797:7673797(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.823delT
AA Mutation	p.Cys275ValfsTer70(p.C275Vfs*70)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	70
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7673744:7673744(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.876delA
AA Mutation	p.Glu294SerfsTer51(p.E294Sfs*51)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	71
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7676245:7676245(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.124delG
AA Mutation	p.Asp42IlefsTer2(p.D42Ifs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	72
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7674904:7674905(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.626_627delGA
AA Mutation	p.Arg209LysfsTer6(p.R209Kfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	73
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7675185:7675198(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.414_427delCAAGACCTGCCCTG
AA Mutation	p.Lys139AlafsTer5(p.K139Afs*5)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	74
Mutation Consequence	frameshift_variant;splice_region_variant
Transcription ID	ENST00000269305
Start	7673603:7673607(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.921_925delACTGC
AA Mutation	p.Leu308GlnfsTer27(p.L308Qfs*27)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	75
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7676179:7676180(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.189_190delTC
AA Mutation	p.Pro64GlnfsTer84(p.P64Qfs*84)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	76
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7674894:7674894(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs397516436
CDS Mutation	c.637C>T
AA Mutation	p.Arg213Ter(p.R213*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	77
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7673704:7673704(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121913344
CDS Mutation	c.916C>T
AA Mutation	p.Arg306Ter(p.R306*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	78
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7674945:7674945(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs397516435
CDS Mutation	c.586C>T
AA Mutation	p.Arg196Ter(p.R196*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	79
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7673740:7673740(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.880G>T
AA Mutation	p.Glu294Ter(p.E294*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	80
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7674921:7674921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.610G>T
AA Mutation	p.Glu204Ter(p.E204*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	81
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7676088:7676088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.281C>A
AA Mutation	p.Ser94Ter(p.S94*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	82
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7676096:7676096(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.273G>A
AA Mutation	p.Trp91Ter(p.W91*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	83
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7670685:7670685(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs730882029
CDS Mutation	c.1024C>T
AA Mutation	p.Arg342Ter(p.R342*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	84
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7675175:7675175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.437G>A
AA Mutation	p.Trp146Ter(p.W146*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	85
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7674939:7674939(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.592G>T
AA Mutation	p.Glu198Ter(p.E198*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	86
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7676218:7676218(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.151G>T
AA Mutation	p.Glu51Ter(p.E51*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	87
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7670682:7670682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1027G>T
AA Mutation	p.Glu343Ter(p.E343*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	88
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7675113:7675113(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.499C>T
AA Mutation	p.Gln167Ter(p.Q167*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	89
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7673579:7673579(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.949C>T
AA Mutation	p.Gln317Ter(p.Q317*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	90
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7675997:7675997(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.372C>A
AA Mutation	p.Cys124Ter(p.C124*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	91
Mutation Consequence	stop_gained;splice_region_variant
Transcription ID	ENST00000269305
Start	7674861:7674861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.670G>T
AA Mutation	p.Glu224Ter(p.E224*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	92
Mutation Consequence	stop_gained
Transcription ID	ENST00000269305
Start	7673555:7673555(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.973G>T
AA Mutation	p.Gly325Ter(p.G325*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	93
Mutation Consequence	stop_gained;frameshift_variant
Transcription ID	ENST00000269305
Start	7675206:7675207(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.405_406delCC
AA Mutation	p.Cys135Ter(p.C135*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	94
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7676059:7676060(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.308_309dupAC
AA Mutation	p.Gln104ThrfsTer20(p.Q104Tfs*20)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	95
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7675208:7675209(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.403dupT
AA Mutation	p.Cys135LeufsTer14(p.C135Lfs*14)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	96
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000269305
Start	7674193:7674194(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.769dupC
AA Mutation	p.Leu257ProfsTer7(p.L257Pfs*7)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	97
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000269305
Start	7675052:7675052(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.559+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	98
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000269305
Start	7674973:7674973(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.560-2A>T
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	99
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000269305
Start	7675238:7675238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.376-2A>T
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	100
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000269305
Start	7674180:7674180(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.782+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	101
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000269305
Start	7674292:7674292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.673-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	102
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000269305
Start	7673699:7673699(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.919+2T>G
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	103
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000269305
Start	7675052:7675052(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.559+1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	104
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000269305
Start	7675238:7675238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs786202799
CDS Mutation	c.376-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	105
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000269305
Start	7673700:7673700(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.919+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	106
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000269305
Start	7674858:7674858(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.672+1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	107
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000269305
Start	7674972:7674972(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.560-1G>C
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	108
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000269305
Start	7670717:7670717(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.994-2A>C
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	109
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000269305
Start	7674212:7674214(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.749_751delCCA
AA Mutation	p.Pro250_Ile251delinsLeu(p.P250_I251delinsL)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	110
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000269305
Start	7674243:7674248(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.715_720delAACAGT
AA Mutation	p.Asn239_Ser240del(p.N239_S240del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	111
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000269305
Start	7673826:7673828(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.792_794delACT
AA Mutation	p.Leu265del(p.L265del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	112
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000269305
Start	7675066:7675083(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.529_546delCCCCACCATGAGCGCTGC
AA Mutation	p.Pro177_Cys182del(p.P177_C182del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	113
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000269305
Start	7674248:7674250(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.713_715delGTA
AA Mutation	p.Cys238_Asn239delinsTyr(p.C238_N239delinsY)
Mutation Classification	In_Frame_Del
Feature Type	Transcript

ID	114
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000269305
Start	7675083:7675084(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.526_528dupTGC
AA Mutation	p.Cys176dup(p.C176dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

ID	115
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000269305
Start	7674238:7674239(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.722_724dupCCT
AA Mutation	p.Ser241dup(p.S241dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

ID	116
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000269305
Start	7675167:7675168(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.439_444dupGTTGAT
AA Mutation	p.Val147_Asp148dup(p.V147_D148dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript

ID	117
Mutation Consequence	inframe_insertion
Transcription ID	ENST00000269305
Start	7674202:7674203(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.758_760dupCCA
AA Mutation	p.Thr253dup(p.T253dup)
Mutation Classification	In_Frame_Ins
Feature Type	Transcript