Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SYNE1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152417009:152417009(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5428G>A
AA Mutation p.Ala1810Thr(p.A1810T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152430553:152430553(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4618G>C
AA Mutation p.Ala1540Pro(p.A1540P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152444551:152444551(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3697G>A
AA Mutation p.Asp1233Asn(p.D1233N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152211512:152211512(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22571A>G
AA Mutation p.Gln7524Arg(p.Q7524R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152450821:152450821(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3199G>A
AA Mutation p.Asp1067Asn(p.D1067N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152323580:152323580(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201750136
CDS Mutation c.15815G>A
AA Mutation p.Arg5272Gln(p.R5272Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152329891:152329891(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14794G>A
AA Mutation p.Glu4932Lys(p.E4932K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152300694:152300694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17629C>A
AA Mutation p.Pro5877Thr(p.P5877T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152323545:152323545(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148292669
CDS Mutation c.15850G>A
AA Mutation p.Ala5284Thr(p.A5284T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152154971:152154971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24050C>A
AA Mutation p.Ser8017Tyr(p.S8017Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152201900:152201900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23069G>A
AA Mutation p.Arg7690Gln(p.R7690Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152255012:152255012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19338G>T
AA Mutation p.Glu6446Asp(p.E6446D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152269243:152269243(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772241548
CDS Mutation c.18617C>T
AA Mutation p.Ala6206Val(p.A6206V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152331477:152331477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139490297
CDS Mutation c.13208C>T
AA Mutation p.Ser4403Leu(p.S4403L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152334063:152334063(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12739A>C
AA Mutation p.Asn4247His(p.N4247H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152352286:152352286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11321C>T
AA Mutation p.Ala3774Val(p.A3774V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152367294:152367294(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373760161
CDS Mutation c.9896C>T
AA Mutation p.Ala3299Val(p.A3299V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152395539:152395539(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7689T>G
AA Mutation p.Phe2563Leu(p.F2563L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152511082:152511082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.331T>C
AA Mutation p.Ser111Pro(p.S111P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152350174:152350174(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11895C>A
AA Mutation p.His3965Gln(p.H3965Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152189296:152189296(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138747167
CDS Mutation c.23257C>T
AA Mutation p.Arg7753Cys(p.R7753C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330521:152330521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs35484093
CDS Mutation c.14164G>A
AA Mutation p.Glu4722Lys(p.E4722K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152318885:152318885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16367T>G
AA Mutation p.Val5456Gly(p.V5456G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152347232:152347232(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11905A>G
AA Mutation p.Met3969Val(p.M3969V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152318157:152318157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16496A>G
AA Mutation p.Lys5499Arg(p.K5499R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152176398:152176398(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23623G>A
AA Mutation p.Ala7875Thr(p.A7875T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152353277:152353277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11239T>A
AA Mutation p.Leu3747Met(p.L3747M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416850:152416850(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769949513
CDS Mutation c.5587C>T
AA Mutation p.Arg1863Trp(p.R1863W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152156019:152156019(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768462825
CDS Mutation c.23869T>G
AA Mutation p.Cys7957Gly(p.C7957G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152211543:152211543(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22540A>C
AA Mutation p.Ile7514Leu(p.I7514L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321387:152321387(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16087C>A
AA Mutation p.Leu5363Ile(p.L5363I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152354936:152354936(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10649A>G
AA Mutation p.Asn3550Ser(p.N3550S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152444499:152444499(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3749C>A
AA Mutation p.Ser1250Tyr(p.S1250Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152453608:152453608(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3005G>A
AA Mutation p.Arg1002Gln(p.R1002Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152520514:152520514(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575386895
CDS Mutation c.254G>A
AA Mutation p.Arg85Gln(p.R85Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152176488:152176488(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770196925
CDS Mutation c.23533A>G
AA Mutation p.Lys7845Glu(p.K7845E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152268125:152268125(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18746G>C
AA Mutation p.Arg6249Pro(p.R6249P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152278153:152278153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18509G>T
AA Mutation p.Arg6170Ile(p.R6170I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152281815:152281815(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18373G>A
AA Mutation p.Asp6125Asn(p.D6125N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152323632:152323632(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15763G>A
AA Mutation p.Asp5255Asn(p.D5255N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152358420:152358420(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10561C>A
AA Mutation p.Leu3521Ile(p.L3521I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367255
Start 152401340:152401340(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6827T>G
AA Mutation p.Phe2276Cys(p.F2276C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152404269:152404269(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6769A>G
AA Mutation p.Lys2257Glu(p.K2257E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152447543:152447543(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3584C>A
AA Mutation p.Ser1195Tyr(p.S1195Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152236227:152236227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20276C>A
AA Mutation p.Ser6759Tyr(p.S6759Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152398662:152398662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7307C>T
AA Mutation p.Thr2436Ile(p.T2436I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152449556:152449556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149415204
CDS Mutation c.3481G>A
AA Mutation p.Gly1161Arg(p.G1161R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152331580:152331580(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777182389
CDS Mutation c.13105G>A
AA Mutation p.Glu4369Lys(p.E4369K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152463424:152463424(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2026T>G
AA Mutation p.Ser676Ala(p.S676A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152136676:152136676(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25601T>A
AA Mutation p.Val8534Glu(p.V8534E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152164216:152164216(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs528535664
CDS Mutation c.23737G>A
AA Mutation p.Val7913Ile(p.V7913I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152381271:152381271(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8744G>A
AA Mutation p.Gly2915Glu(p.G2915E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152213717:152213717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22389A>C
AA Mutation p.Glu7463Asp(p.E7463D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152331442:152331442(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13243C>A
AA Mutation p.Leu4415Ile(p.L4415I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152362181:152362181(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10288G>A
AA Mutation p.Gly3430Arg(p.G3430R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321245:152321245(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776100963
CDS Mutation c.16229G>A
AA Mutation p.Arg5410Gln(p.R5410Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152367231:152367231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs548283137
CDS Mutation c.9959C>T
AA Mutation p.Thr3320Met(p.T3320M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152441185:152441185(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746133846
CDS Mutation c.4094G>A
AA Mutation p.Arg1365His(p.R1365H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152455909:152455909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2704G>T
AA Mutation p.Ala902Ser(p.A902S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152318925:152318925(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754256537
CDS Mutation c.16327A>G
AA Mutation p.Thr5443Ala(p.T5443A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152510250:152510250(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.524A>T
AA Mutation p.Lys175Met(p.K175M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152391381:152391381(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7900C>A
AA Mutation p.Gln2634Lys(p.Q2634K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152309861:152309861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775685010
CDS Mutation c.17176G>A
AA Mutation p.Ala5726Thr(p.A5726T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152502665:152502665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.856C>A
AA Mutation p.His286Asn(p.H286N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152395537:152395537(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778686915
CDS Mutation c.7691T>G
AA Mutation p.Leu2564Trp(p.L2564W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152450799:152450799(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3221G>A
AA Mutation p.Cys1074Tyr(p.C1074Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152234732:152234732(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777151673
CDS Mutation c.20465C>A
AA Mutation p.Thr6822Asn(p.T6822N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152428330:152428330(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4851G>T
AA Mutation p.Arg1617Ser(p.R1617S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152428331:152428331(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4850G>T
AA Mutation p.Arg1617Met(p.R1617M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152149515:152149515(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24604C>T
AA Mutation p.Arg8202Cys(p.R8202C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152442149:152442149(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200276242
CDS Mutation c.3934G>A
AA Mutation p.Glu1312Lys(p.E1312K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152206341:152206341(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200236760
CDS Mutation c.22846C>T
AA Mutation p.Arg7616Trp(p.R7616W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152149643:152149643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24476A>C
AA Mutation p.Asn8159Thr(p.N8159T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152140048:152140048(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25360G>T
AA Mutation p.Ala8454Ser(p.A8454S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152281922:152281922(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752053839
CDS Mutation c.18266G>A
AA Mutation p.Arg6089His(p.R6089H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152391339:152391339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7942G>A
AA Mutation p.Ala2648Thr(p.A2648T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321813:152321813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15991C>A
AA Mutation p.Gln5331Lys(p.Q5331K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152376387:152376387(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9318A>C
AA Mutation p.Lys3106Asn(p.K3106N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152236283:152236283(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20220T>G
AA Mutation p.Asn6740Lys(p.N6740K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152419576:152419576(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749200824
CDS Mutation c.5414G>A
AA Mutation p.Arg1805Gln(p.R1805Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152152002:152152002(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24269A>G
AA Mutation p.Asp8090Gly(p.D8090G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152262180:152262180(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18824C>T
AA Mutation p.Pro6275Leu(p.P6275L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152387079:152387079(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8480T>G
AA Mutation p.Val2827Gly(p.V2827G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152301976:152301976(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775815795
CDS Mutation c.17434G>A
AA Mutation p.Ala5812Thr(p.A5812T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152381350:152381350(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8665T>G
AA Mutation p.Ser2889Ala(p.S2889A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152352193:152352193(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11414G>A
AA Mutation p.Arg3805Gln(p.R3805Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152155005:152155005(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24016G>A
AA Mutation p.Asp8006Asn(p.D8006N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152308622:152308622(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17213T>C
AA Mutation p.Val5738Ala(p.V5738A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152326330:152326330(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767636254
CDS Mutation c.15259C>T
AA Mutation p.Arg5087Trp(p.R5087W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152189346:152189346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23207A>T
AA Mutation p.Asp7736Val(p.D7736V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152385783:152385783(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368832347
CDS Mutation c.8543C>T
AA Mutation p.Ala2848Val(p.A2848V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152442175:152442175(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3908A>G
AA Mutation p.Glu1303Gly(p.E1303G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152331325:152331325(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs192299401
CDS Mutation c.13360G>A
AA Mutation p.Glu4454Lys(p.E4454K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152398660:152398660(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140948068
CDS Mutation c.7309G>A
AA Mutation p.Gly2437Ser(p.G2437S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367255
Start 152319014:152319014(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16238T>G
AA Mutation p.Ile5413Ser(p.I5413S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330125:152330125(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14560G>T
AA Mutation p.Ala4854Ser(p.A4854S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152281900:152281900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18288C>A
AA Mutation p.Asp6096Glu(p.D6096E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152350278:152350278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11791C>A
AA Mutation p.Leu3931Ile(p.L3931I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152122618:152122618(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144206837
CDS Mutation c.26212C>T
AA Mutation p.Arg8738Cys(p.R8738C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367255
Start 152368972:152368972(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9807G>T
AA Mutation p.Lys3269Asn(p.K3269N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152318106:152318106(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16547A>T
AA Mutation p.Glu5516Val(p.E5516V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152155025:152155025(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267600862
CDS Mutation c.23996G>A
AA Mutation p.Arg7999Gln(p.R7999Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152428358:152428358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4823C>T
AA Mutation p.Ala1608Val(p.A1608V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152140006:152140006(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756674030
CDS Mutation c.25402C>T
AA Mutation p.Arg8468Cys(p.R8468C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152309877:152309877(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17160C>G
AA Mutation p.Ser5720Arg(p.S5720R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152387365:152387365(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8194A>G
AA Mutation p.Ile2732Val(p.I2732V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152391344:152391344(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7937G>T
AA Mutation p.Arg2646Ile(p.R2646I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152505251:152505251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.728T>C
AA Mutation p.Phe243Ser(p.F243S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152148216:152148216(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778418319
CDS Mutation c.24805C>T
AA Mutation p.Arg8269Trp(p.R8269W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321755:152321755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16049C>T
AA Mutation p.Thr5350Ile(p.T5350I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152436066:152436066(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4185G>T
AA Mutation p.Gln1395His(p.Q1395H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152409106:152409106(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6502A>G
AA Mutation p.Lys2168Glu(p.K2168E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152152123:152152123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24148C>A
AA Mutation p.His8050Asn(p.H8050N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152236920:152236920(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20096A>G
AA Mutation p.Gln6699Arg(p.Q6699R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152450648:152450648(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3372C>G
AA Mutation p.Asp1124Glu(p.D1124E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152505314:152505314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.665C>T
AA Mutation p.Pro222Leu(p.P222L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152269229:152269229(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18631G>T
AA Mutation p.Gly6211Cys(p.G6211C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152325170:152325170(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15571C>T
AA Mutation p.Arg5191Cys(p.R5191C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152152080:152152080(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24191G>A
AA Mutation p.Arg8064His(p.R8064H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416964:152416964(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5473G>T
AA Mutation p.Gly1825Cys(p.G1825C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416934:152416934(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149448385
CDS Mutation c.5503C>T
AA Mutation p.Arg1835Cys(p.R1835C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152310843:152310843(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16741A>G
AA Mutation p.Ser5581Gly(p.S5581G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152208193:152208193(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22603C>A
AA Mutation p.Leu7535Met(p.L7535M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152441224:152441224(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4055T>G
AA Mutation p.Val1352Gly(p.V1352G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152428345:152428345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4836C>G
AA Mutation p.Phe1612Leu(p.F1612L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152239568:152239568(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20032C>A
AA Mutation p.His6678Asn(p.H6678N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152396931:152396931(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7400C>T
AA Mutation p.Thr2467Ile(p.T2467I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 128
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152316889:152316889(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16670A>C
AA Mutation p.Asn5557Thr(p.N5557T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 129
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152347201:152347201(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11936G>T
AA Mutation p.Arg3979Leu(p.R3979L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 130
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152269229:152269229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149624155
CDS Mutation c.18631G>A
AA Mutation p.Gly6211Ser(p.G6211S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 131
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152323520:152323520(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200626370
CDS Mutation c.15875C>T
AA Mutation p.Pro5292Leu(p.P5292L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 132
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152249216:152249216(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19517T>C
AA Mutation p.Ile6506Thr(p.I6506T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 133
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152398691:152398691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7278G>T
AA Mutation p.Lys2426Asn(p.K2426N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 134
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152442157:152442157(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3926G>A
AA Mutation p.Arg1309Gln(p.R1309Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 135
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152143673:152143673(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755199419
CDS Mutation c.25069C>T
AA Mutation p.Arg8357Cys(p.R8357C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 136
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152463450:152463450(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2000T>C
AA Mutation p.Leu667Pro(p.L667P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 137
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152211563:152211563(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776733924
CDS Mutation c.22520G>A
AA Mutation p.Arg7507His(p.R7507H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 138
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152318101:152318101(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377410590
CDS Mutation c.16552C>T
AA Mutation p.Arg5518Trp(p.R5518W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 139
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152143721:152143721(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25021G>A
AA Mutation p.Ala8341Thr(p.A8341T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 140
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152151654:152151654(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144056525
CDS Mutation c.24349C>T
AA Mutation p.Arg8117Trp(p.R8117W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 141
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152436047:152436047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4204G>A
AA Mutation p.Glu1402Lys(p.E1402K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 142
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152510266:152510266(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777175001
CDS Mutation c.508C>T
AA Mutation p.Arg170Trp(p.R170W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 143
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367255
Start 152207972:152207972(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22824G>T
AA Mutation p.Gln7608His(p.Q7608H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 144
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152136805:152136805(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25472C>A
AA Mutation p.Ala8491Asp(p.A8491D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 145
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152164198:152164198(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23755T>C
AA Mutation p.Ser7919Pro(p.S7919P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 146
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152201940:152201940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23029A>C
AA Mutation p.Lys7677Gln(p.K7677Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 147
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152233846:152233846(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746823107
CDS Mutation c.20647C>T
AA Mutation p.Arg6883Cys(p.R6883C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 148
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152236158:152236158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20345A>C
AA Mutation p.Lys6782Thr(p.K6782T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 149
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152239571:152239571(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20029G>A
AA Mutation p.Ala6677Thr(p.A6677T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 150
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152294082:152294082(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17728G>T
AA Mutation p.Asp5910Tyr(p.D5910Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 151
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152329878:152329878(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14807C>A
AA Mutation p.Ser4936Tyr(p.S4936Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 152
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152331264:152331264(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771898973
CDS Mutation c.13421G>A
AA Mutation p.Arg4474Gln(p.R4474Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 153
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152358513:152358513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10468C>A
AA Mutation p.Leu3490Ile(p.L3490I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 154
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152376496:152376496(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768750489
CDS Mutation c.9209G>A
AA Mutation p.Arg3070Gln(p.R3070Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 155
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152385799:152385799(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8527C>A
AA Mutation p.Leu2843Ile(p.L2843I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 156
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152390446:152390446(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8011C>A
AA Mutation p.Leu2671Ile(p.L2671I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 157
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152399766:152399766(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7087C>A
AA Mutation p.Leu2363Ile(p.L2363I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 158
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416543:152416543(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5894T>G
AA Mutation p.Leu1965Arg(p.L1965R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 159
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416772:152416772(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5665C>G
AA Mutation p.Gln1889Glu(p.Q1889E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 160
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152451165:152451165(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3068A>C
AA Mutation p.Lys1023Thr(p.K1023T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 161
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152455900:152455900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2713C>A
AA Mutation p.His905Asn(p.H905N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 162
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152502717:152502717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.804G>T
AA Mutation p.Glu268Asp(p.E268D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 163
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152455436:152455436(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs76646638
CDS Mutation c.2882G>A
AA Mutation p.Arg961Gln(p.R961Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 164
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152369012:152369012(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201760281
CDS Mutation c.9767A>G
AA Mutation p.Gln3256Arg(p.Q3256R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 165
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152462800:152462800(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2188A>G
AA Mutation p.Lys730Glu(p.K730E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 166
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152220931:152220931(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21772C>G
AA Mutation p.Gln7258Glu(p.Q7258E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 167
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152164227:152164227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23726C>T
AA Mutation p.Ala7909Val(p.A7909V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 168
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152220945:152220945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749718460
CDS Mutation c.21758C>T
AA Mutation p.Ser7253Leu(p.S7253L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 169
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330790:152330790(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377099959
CDS Mutation c.13895C>T
AA Mutation p.Ser4632Leu(p.S4632L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 170
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152373104:152373104(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9440T>G
AA Mutation p.Val3147Gly(p.V3147G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 171
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152387293:152387293(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8266A>C
AA Mutation p.Ile2756Leu(p.I2756L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 172
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367255
Start 152441269:152441269(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4010T>C
AA Mutation p.Val1337Ala(p.V1337A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 173
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152444570:152444570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3678G>T
AA Mutation p.Lys1226Asn(p.K1226N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 174
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152520526:152520526(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761189574
CDS Mutation c.242G>A
AA Mutation p.Arg81His(p.R81H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 175
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152151969:152151969(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748375969
CDS Mutation c.24302G>A
AA Mutation p.Arg8101His(p.R8101H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 176
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152201879:152201879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751252119
CDS Mutation c.23090C>T
AA Mutation p.Ser7697Leu(p.S7697L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 177
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152249172:152249172(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19561G>A
AA Mutation p.Glu6521Lys(p.E6521K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 178
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152331327:152331327(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13358C>A
AA Mutation p.Ser4453Tyr(p.S4453Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 179
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152471697:152471697(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1532G>A
AA Mutation p.Arg511His(p.R511H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 180
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152189368:152189368(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23185A>T
AA Mutation p.Thr7729Ser(p.T7729S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 181
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152430502:152430502(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4669T>C
AA Mutation p.Phe1557Leu(p.F1557L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 182
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152344100:152344100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12206G>T
AA Mutation p.Arg4069Met(p.R4069M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 183
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152180168:152180168(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23428C>A
AA Mutation p.Leu7810Ile(p.L7810I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 184
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152347175:152347175(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148782440
CDS Mutation c.11962G>A
AA Mutation p.Asp3988Asn(p.D3988N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 185
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152409207:152409207(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6401A>C
AA Mutation p.Lys2134Thr(p.K2134T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 186
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152447489:152447489(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3638C>T
AA Mutation p.Ser1213Phe(p.S1213F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 187
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152451098:152451098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3135G>T
AA Mutation p.Glu1045Asp(p.E1045D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 188
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152458870:152458870(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139324183
CDS Mutation c.2455G>A
AA Mutation p.Glu819Lys(p.E819K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 189
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330833:152330833(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13852C>T
AA Mutation p.Leu4618Phe(p.L4618F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 190
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152213660:152213660(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22446G>T
AA Mutation p.Glu7482Asp(p.E7482D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 191
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152442233:152442233(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140780725
CDS Mutation c.3850C>T
AA Mutation p.Arg1284Trp(p.R1284W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 192
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152520527:152520527(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375917264
CDS Mutation c.241C>T
AA Mutation p.Arg81Cys(p.R81C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 193
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152428363:152428363(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4818C>A
AA Mutation p.Ser1606Arg(p.S1606R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 194
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152139955:152139955(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25453C>T
AA Mutation p.Leu8485Phe(p.L8485F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 195
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152385757:152385757(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8569C>T
AA Mutation p.His2857Tyr(p.H2857Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 196
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152326502:152326502(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15087G>T
AA Mutation p.Glu5029Asp(p.E5029D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 197
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152359401:152359401(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139823841
CDS Mutation c.10357G>T
AA Mutation p.Gly3453Trp(p.G3453W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 198
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152231420:152231420(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21010C>G
AA Mutation p.Gln7004Glu(p.Q7004E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 199
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152353723:152353723(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10948G>A
AA Mutation p.Ala3650Thr(p.A3650T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 200
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152449565:152449565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3472G>A
AA Mutation p.Ala1158Thr(p.A1158T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 201
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152455447:152455447(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2871G>T
AA Mutation p.Glu957Asp(p.E957D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 202
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416933:152416933(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745746538
CDS Mutation c.5504G>A
AA Mutation p.Arg1835His(p.R1835H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 203
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152224521:152224521(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21495T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 204
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152316915:152316915(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16644C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 205
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152325270:152325270(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15471G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 206
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152390432:152390432(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8025T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 207
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152453655:152453655(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767013405
CDS Mutation c.2958C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 208
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152156014:152156014(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749141262
CDS Mutation c.23874C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 209
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152244627:152244627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19602A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 210
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152152109:152152109(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs185088779
CDS Mutation c.24162G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 211
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152293969:152293969(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143490673
CDS Mutation c.17841A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 212
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152302058:152302058(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17352G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 213
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152236226:152236226(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20277C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 214
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152436057:152436057(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770981925
CDS Mutation c.4194C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 215
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152206273:152206273(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772920041
CDS Mutation c.22914C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 216
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152225778:152225778(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21294C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 217
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152416983:152416983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5454C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 218
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152465405:152465405(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1785G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 219
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152283999:152283999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18186G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 220
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152449635:152449635(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3402T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 221
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152141240:152141240(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25209C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 222
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152381240:152381240(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8775C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 223
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152318240:152318240(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16413C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 224
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152330513:152330513(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200419328
CDS Mutation c.14172G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 225
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152293705:152293705(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17895G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 226
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152458847:152458847(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752337342
CDS Mutation c.2478C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 227
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152450762:152450762(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3258G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 228
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152141315:152141315(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576598951
CDS Mutation c.25134C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 229
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152269269:152269269(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18591G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 230
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152148361:152148361(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150811468
CDS Mutation c.24660C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 231
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152359393:152359393(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10365C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 232
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152442195:152442195(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3888C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 233
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152428273:152428273(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771955377
CDS Mutation c.4908C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 234
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152330225:152330225(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14460C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 235
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152318938:152318938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16314T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 236
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152323666:152323666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15729G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 237
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152353691:152353691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10980T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 238
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152359342:152359342(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10416A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 239
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152232260:152232260(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20718G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 240
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152122616:152122616(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs529628600
CDS Mutation c.26214C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 241
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152316915:152316915(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16644C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 242
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152164205:152164205(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23748C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 243
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152148346:152148346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24675G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 244
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152330777:152330777(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13908C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 245
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152139992:152139992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25416C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 246
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152155914:152155914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23974C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 247
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152385758:152385758(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8568C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 248
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152399698:152399698(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7155G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 249
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152140130:152140130(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25278C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 250
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152390288:152390288(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371449580
CDS Mutation c.8169C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 251
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152387293:152387293(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8266delA
AA Mutation p.Ile2756Ter(p.I2756*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 252
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152352048:152352048(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.11559delA
AA Mutation p.Ala3854LeufsTer20(p.A3854Lfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 253
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152354768:152354768(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10817delA
AA Mutation p.Lys3606SerfsTer5(p.K3606Sfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 254
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152330474:152330474(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.14211delA
AA Mutation p.Glu4738LysfsTer25(p.E4738Kfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 255
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152233881:152233881(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.20612delA
AA Mutation p.Lys6871ArgfsTer22(p.K6871Rfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 256
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152133375:152133375(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.25902delA
AA Mutation p.Val8635SerfsTer12(p.V8635Sfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 257
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152409564:152409564(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6376delT
AA Mutation p.Ser2126ProfsTer10(p.S2126Pfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 258
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152300729:152300738(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.17585_17594delAGGAGTCTGG
AA Mutation p.Glu5862GlyfsTer83(p.E5862Gfs*83)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 259
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152510365:152510365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.409G>T
AA Mutation p.Glu137Ter(p.E137*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 260
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152505273:152505273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.706C>T
AA Mutation p.Arg236Ter(p.R236*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 261
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152407178:152407178(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6559G>T
AA Mutation p.Glu2187Ter(p.E2187*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 262
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152219134:152219134(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21913G>T
AA Mutation p.Glu7305Ter(p.E7305*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 263
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152262091:152262091(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18913G>T
AA Mutation p.Glu6305Ter(p.E6305*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 264
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152376497:152376497(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs549779256
CDS Mutation c.9208C>T
AA Mutation p.Arg3070Ter(p.R3070*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 265
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152484912:152484912(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1108C>T
AA Mutation p.Gln370Ter(p.Q370*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 266
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152318988:152318988(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16264C>T
AA Mutation p.Gln5422Ter(p.Q5422*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 267
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152236112:152236112(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20391G>A
AA Mutation p.Trp6797Ter(p.W6797*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 268
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152329771:152329771(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14914G>T
AA Mutation p.Glu4972Ter(p.E4972*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 269
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152331739:152331739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12946G>T
AA Mutation p.Glu4316Ter(p.E4316*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 270
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152396785:152396785(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7546G>T
AA Mutation p.Glu2516Ter(p.E2516*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 271
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152433854:152433854(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4402G>T
AA Mutation p.Glu1468Ter(p.E1468*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 272
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152441231:152441231(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4048G>T
AA Mutation p.Glu1350Ter(p.E1350*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 273
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152176548:152176548(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23473G>T
AA Mutation p.Glu7825Ter(p.E7825*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 274
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152268090:152268090(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18781C>T
AA Mutation p.Gln6261Ter(p.Q6261*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 275
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152362274:152362274(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10195C>T
AA Mutation p.Arg3399Ter(p.R3399*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 276
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152395631:152395631(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7597G>T
AA Mutation p.Glu2533Ter(p.E2533*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 277
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152444533:152444533(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3715G>T
AA Mutation p.Glu1239Ter(p.E1239*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 278
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152505318:152505318(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750266004
CDS Mutation c.661C>T
AA Mutation p.Arg221Ter(p.R221*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 279
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152310735:152310735(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758379604
CDS Mutation c.16849C>T
AA Mutation p.Arg5617Ter(p.R5617*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 280
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152310861:152310861(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16723G>T
AA Mutation p.Glu5575Ter(p.E5575*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 281
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152401168:152401169(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.6998dupA
AA Mutation p.Asn2333LysfsTer2(p.N2333Kfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 282
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152310779:152310780(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.16804dupA
AA Mutation p.Met5602AsnfsTer13(p.M5602Nfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 283
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152483153:152483154(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1280_1281dupAG
AA Mutation p.Glu428ArgfsTer3(p.E428Rfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 284
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152236186:152236187(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.20316dupT
AA Mutation p.Gly6773TrpfsTer7(p.G6773Wfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 285
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152148173:152148174(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.24847dupC
AA Mutation p.Leu8283ProfsTer8(p.L8283Pfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 286
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152385831:152385832(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.8494dupA
AA Mutation p.Met2832AsnfsTer53(p.M2832Nfs*53)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 287
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152433905:152433906(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4350_4351insAA
AA Mutation p.Phe1451AsnfsTer13(p.F1451Nfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 288
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152444519:152444520(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3728_3729insC
AA Mutation p.Ser1244PhefsTer10(p.S1244Ffs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 289
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000367255
Start 152140162:152140162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25247-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 290
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000367255
Start 152365021:152365021(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9973-2A>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 291
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000367255
Start 152221560:152221560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21523-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 292
Mutation Consequence inframe_insertion
Transcription ID ENST00000367255
Start 152364904:152364905(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.10085_10087dupAGC
AA Mutation p.Gln3362dup(p.Q3362dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 293
Mutation Consequence protein_altering_variant
Transcription ID ENST00000367255
Start 152180239:152180240(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.23356_23357insCCT
AA Mutation p.Ser7786delinsThrCys(p.S7786delinsTC)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 294
Mutation Consequence inframe_insertion
Transcription ID ENST00000367255
Start 152180240:152180241(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.23355_23356insTGT
AA Mutation p.Phe7785_Ser7786insCys(p.F7785_S7786insC)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> SYNE1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152206283:152206283(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs555792275
CDS Mutation c.22904C>T
AA Mutation p.Ala7635Val(p.A7635V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152353677:152353677(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10994T>C
AA Mutation p.Ile3665Thr(p.I3665T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152391518:152391518(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7763G>T
AA Mutation p.Gly2588Val(p.G2588V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152425443:152425443(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5205G>C
AA Mutation p.Met1735Ile(p.M1735I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152122593:152122593(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757466963
CDS Mutation c.26237G>A
AA Mutation p.Arg8746Gln(p.R8746Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152155025:152155025(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267600862
CDS Mutation c.23996G>A
AA Mutation p.Arg7999Gln(p.R7999Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000367255
Start 152213614:152213614(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762050668
CDS Mutation c.22492G>A
AA Mutation p.Glu7498Lys(p.E7498K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152233860:152233860(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775765441
CDS Mutation c.20633G>A
AA Mutation p.Arg6878His(p.R6878H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152255635:152255635(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747104679
CDS Mutation c.19216G>A
AA Mutation p.Ala6406Thr(p.A6406T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152294106:152294106(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17704T>G
AA Mutation p.Leu5902Val(p.L5902V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321803:152321803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16001C>T
AA Mutation p.Ser5334Phe(p.S5334F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152334134:152334134(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140492158
CDS Mutation c.12668G>A
AA Mutation p.Arg4223His(p.R4223H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152451057:152451057(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3176A>C
AA Mutation p.Lys1059Thr(p.K1059T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152140023:152140023(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25385A>T
AA Mutation p.Glu8462Val(p.E8462V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330133:152330133(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14552A>C
AA Mutation p.Tyr4851Ser(p.Y4851S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152442187:152442187(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3896C>T
AA Mutation p.Ala1299Val(p.A1299V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152430648:152430648(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4523A>C
AA Mutation p.Gln1508Pro(p.Q1508P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152141208:152141208(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759512753
CDS Mutation c.25241C>T
AA Mutation p.Thr8414Met(p.T8414M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321792:152321792(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16012T>A
AA Mutation p.Trp5338Arg(p.W5338R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152391452:152391452(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7829G>C
AA Mutation p.Arg2610Thr(p.R2610T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152436086:152436086(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4165A>G
AA Mutation p.Thr1389Ala(p.T1389A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152151656:152151656(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781159250
CDS Mutation c.24347C>T
AA Mutation p.Ala8116Val(p.A8116V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330286:152330286(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14399A>T
AA Mutation p.Glu4800Val(p.E4800V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152164249:152164249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372990463
CDS Mutation c.23704G>A
AA Mutation p.Ala7902Thr(p.A7902T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152395648:152395648(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7580T>C
AA Mutation p.Leu2527Pro(p.L2527P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416897:152416897(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5540A>G
AA Mutation p.Glu1847Gly(p.E1847G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152483098:152483098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1337T>G
AA Mutation p.Leu446Arg(p.L446R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152149515:152149515(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24604C>T
AA Mutation p.Arg8202Cys(p.R8202C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330754:152330754(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13931A>C
AA Mutation p.Lys4644Thr(p.K4644T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330755:152330755(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13930A>G
AA Mutation p.Lys4644Glu(p.K4644E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152189293:152189293(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150550013
CDS Mutation c.23260G>A
AA Mutation p.Val7754Ile(p.V7754I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416528:152416528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5909A>G
AA Mutation p.Gln1970Arg(p.Q1970R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152206262:152206262(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22925C>T
AA Mutation p.Ala7642Val(p.A7642V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152256711:152256711(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773713870
CDS Mutation c.19027G>A
AA Mutation p.Val6343Met(p.V6343M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152154971:152154971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24050C>A
AA Mutation p.Ser8017Tyr(p.S8017Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152511039:152511039(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.374T>G
AA Mutation p.Leu125Trp(p.L125W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152201879:152201879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751252119
CDS Mutation c.23090C>T
AA Mutation p.Ser7697Leu(p.S7697L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152419577:152419577(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763781396
CDS Mutation c.5413C>T
AA Mutation p.Arg1805Trp(p.R1805W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152387185:152387185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8374C>T
AA Mutation p.Arg2792Cys(p.R2792C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152300651:152300651(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17672C>A
AA Mutation p.Ser5891Tyr(p.S5891Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152396833:152396833(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7498C>A
AA Mutation p.Leu2500Met(p.L2500M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416649:152416649(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5788C>A
AA Mutation p.Leu1930Ile(p.L1930I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152309861:152309861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775685010
CDS Mutation c.17176G>A
AA Mutation p.Ala5726Thr(p.A5726T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152152081:152152081(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753271124
CDS Mutation c.24190C>T
AA Mutation p.Arg8064Cys(p.R8064C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152401166:152401166(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760292883
CDS Mutation c.7001A>G
AA Mutation p.Glu2334Gly(p.E2334G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152294038:152294038(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17772C>A
AA Mutation p.Phe5924Leu(p.F5924L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321328:152321328(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16146G>T
AA Mutation p.Lys5382Asn(p.K5382N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152321803:152321803(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16001C>A
AA Mutation p.Ser5334Tyr(p.S5334Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152329777:152329777(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14908C>T
AA Mutation p.Leu4970Phe(p.L4970F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152330833:152330833(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147125369
CDS Mutation c.13852C>A
AA Mutation p.Leu4618Ile(p.L4618I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152353698:152353698(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10973T>G
AA Mutation p.Val3658Gly(p.V3658G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152369517:152369517(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146769373
CDS Mutation c.9605G>A
AA Mutation p.Arg3202His(p.R3202H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152373063:152373063(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9481C>A
AA Mutation p.Leu3161Ile(p.L3161I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152376860:152376860(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9062C>T
AA Mutation p.Ser3021Phe(p.S3021F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152381349:152381349(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8666C>A
AA Mutation p.Ser2889Tyr(p.S2889Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152502717:152502717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.804G>T
AA Mutation p.Glu268Asp(p.E268D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152520470:152520470(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs187117263
CDS Mutation c.298G>A
AA Mutation p.Glu100Lys(p.E100K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152416826:152416826(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5611G>T
AA Mutation p.Ala1871Ser(p.A1871S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152122520:152122520(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26310A>C
AA Mutation p.Glu8770Asp(p.E8770D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152149616:152149616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24503C>T
AA Mutation p.Ala8168Val(p.A8168V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152206344:152206344(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22843C>A
AA Mutation p.Leu7615Met(p.L7615M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152220975:152220975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21728G>T
AA Mutation p.Arg7243Ile(p.R7243I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152329897:152329897(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14788C>A
AA Mutation p.His4930Asn(p.H4930N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152350752:152350752(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11599C>A
AA Mutation p.Leu3867Met(p.L3867M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152398645:152398645(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747633088
CDS Mutation c.7324C>A
AA Mutation p.Leu2442Ile(p.L2442I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152427739:152427739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5054T>G
AA Mutation p.Ile1685Ser(p.I1685S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152450650:152450650(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3370G>A
AA Mutation p.Asp1124Asn(p.D1124N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152471761:152471761(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1468C>A
AA Mutation p.His490Asn(p.H490N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000367255
Start 152483218:152483218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1217C>A
AA Mutation p.Ser406Tyr(p.S406Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152156044:152156044(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23844C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152323666:152323666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15729G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152365014:152365014(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9978A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152387156:152387156(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757104773
CDS Mutation c.8403C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152156077:152156077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23811G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152367299:152367299(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200222988
CDS Mutation c.9891G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152330393:152330393(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14292A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152436008:152436008(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4243C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 78
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152334112:152334112(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12690G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 79
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152230598:152230598(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21144G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 80
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152244573:152244573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773211579
CDS Mutation c.19656C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 81
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152387249:152387249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749172868
CDS Mutation c.8310C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 82
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152133402:152133402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25875A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 83
Mutation Consequence synonymous_variant
Transcription ID ENST00000367255
Start 152367367:152367367(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761873757
CDS Mutation c.9823C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152236278:152236278(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.20225delA
AA Mutation p.Tyr6742SerfsTer9(p.Y6742Sfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 85
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152325155:152325155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15586C>T
AA Mutation p.Arg5196Ter(p.R5196*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152326062:152326062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15334G>T
AA Mutation p.Glu5112Ter(p.E5112*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152354667:152354667(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10918C>T
AA Mutation p.Gln3640Ter(p.Q3640*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152133380:152133380(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25897G>T
AA Mutation p.Glu8633Ter(p.E8633*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152149596:152149596(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24523G>T
AA Mutation p.Glu8175Ter(p.E8175*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152331035:152331035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13650C>A
AA Mutation p.Cys4550Ter(p.C4550*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence stop_gained
Transcription ID ENST00000367255
Start 152416424:152416424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200119679
CDS Mutation c.6013C>T
AA Mutation p.Arg2005Ter(p.R2005*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence frameshift_variant
Transcription ID ENST00000367255
Start 152331409:152331410(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.13275_13276insC
AA Mutation p.Ala4426ArgfsTer4(p.A4426Rfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 93
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000367255
Start 152419723:152419723(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5268-1G>T
Mutation Classification Splice_Site
Feature Type Transcript