Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> DYNC1H1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102033408:102033408(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779245575
CDS Mutation c.10337G>A
AA Mutation p.Arg3446His(p.R3446H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102042657:102042657(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751754403
CDS Mutation c.12422C>T
AA Mutation p.Ala4141Val(p.A4141V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102043998:102043998(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12637C>T
AA Mutation p.Arg4213Trp(p.R4213W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102000958:102000958(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4079G>A
AA Mutation p.Arg1360Gln(p.R1360Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101983407:101983407(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1259T>C
AA Mutation p.Phe420Ser(p.F420S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000360184
Start 101995182:101995182(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3446C>T
AA Mutation p.Ser1149Phe(p.S1149F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102030231:102030231(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9832G>A
AA Mutation p.Val3278Ile(p.V3278I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102044352:102044352(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12763C>T
AA Mutation p.Arg4255Cys(p.R4255C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102027441:102027441(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8945G>A
AA Mutation p.Arg2982His(p.R2982H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102017441:102017441(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8114G>T
AA Mutation p.Arg2705Ile(p.R2705I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102000319:102000319(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3994G>A
AA Mutation p.Val1332Ile(p.V1332I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101980440:101980440(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774677904
CDS Mutation c.851C>T
AA Mutation p.Ala284Val(p.A284V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101997146:101997146(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3676C>T
AA Mutation p.Arg1226Trp(p.R1226W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102029642:102029642(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9572G>A
AA Mutation p.Arg3191Gln(p.R3191Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102042476:102042476(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12368G>A
AA Mutation p.Arg4123Gln(p.R4123Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101994802:101994802(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3286G>A
AA Mutation p.Ala1096Thr(p.A1096T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102042101:102042101(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750249796
CDS Mutation c.12191C>T
AA Mutation p.Thr4064Met(p.T4064M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102050534:102050534(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200224597
CDS Mutation c.13912C>T
AA Mutation p.Arg4638Trp(p.R4638W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101988706:101988706(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2722G>A
AA Mutation p.Glu908Lys(p.E908K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102029831:102029831(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9655C>T
AA Mutation p.Arg3219Cys(p.R3219C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102004836:102004836(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5124G>T
AA Mutation p.Glu1708Asp(p.E1708D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101995205:101995205(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3469T>G
AA Mutation p.Ser1157Ala(p.S1157A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101999999:101999999(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3815G>A
AA Mutation p.Arg1272His(p.R1272H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102004767:102004767(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5055G>A
AA Mutation p.Met1685Ile(p.M1685I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102040340:102040340(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752716582
CDS Mutation c.11795C>T
AA Mutation p.Ala3932Val(p.A3932V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102027802:102027802(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9232C>T
AA Mutation p.Arg3078Trp(p.R3078W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102033428:102033428(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778115137
CDS Mutation c.10357G>A
AA Mutation p.Val3453Ile(p.V3453I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102015265:102015265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7175A>G
AA Mutation p.Asp2392Gly(p.D2392G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102007065:102007065(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5774G>A
AA Mutation p.Arg1925Gln(p.R1925Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102033360:102033360(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10289C>T
AA Mutation p.Ala3430Val(p.A3430V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102016484:102016484(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7609T>G
AA Mutation p.Tyr2537Asp(p.Y2537D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102026689:102026689(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8753A>G
AA Mutation p.His2918Arg(p.H2918R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101979844:101979844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.644A>G
AA Mutation p.Asn215Ser(p.N215S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101994216:101994216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3048G>T
AA Mutation p.Glu1016Asp(p.E1016D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101983169:101983169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1112A>C
AA Mutation p.Lys371Thr(p.K371T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101987555:101987555(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2641G>T
AA Mutation p.Val881Phe(p.V881F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102026695:102026695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8759T>C
AA Mutation p.Leu2920Pro(p.L2920P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101979336:101979336(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201746558
CDS Mutation c.362G>A
AA Mutation p.Arg121His(p.R121H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102008266:102008266(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5906C>T
AA Mutation p.Ser1969Leu(p.S1969L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102033166:102033166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10181A>G
AA Mutation p.Lys3394Arg(p.K3394R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102038515:102038515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10964G>A
AA Mutation p.Arg3655Gln(p.R3655Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102012026:102012026(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6770A>G
AA Mutation p.Lys2257Arg(p.K2257R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102017156:102017156(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778369655
CDS Mutation c.7917C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102042471:102042471(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765380275
CDS Mutation c.12363C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 101994258:101994258(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3090T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102006115:102006115(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5661C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102034101:102034101(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10539C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102009931:102009931(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769412278
CDS Mutation c.6066C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102049872:102049872(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774109669
CDS Mutation c.13674C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102005128:102005128(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767537085
CDS Mutation c.5325C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102017111:102017111(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7872T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102000060:102000060(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745852574
CDS Mutation c.3876C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102041650:102041650(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12018C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 101986202:101986202(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151170554
CDS Mutation c.1977G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102044631:102044631(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs151172467
CDS Mutation c.12939C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 101997235:101997235(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150953878
CDS Mutation c.3765C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102012452:102012452(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6996C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102042745:102042745(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12510C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 101979412:101979412(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764884119
CDS Mutation c.438C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102049791:102049791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13593C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 101975716:101975716(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs75113705
CDS Mutation c.261C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102002584:102002584(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4590C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 101997112:101997112(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778273904
CDS Mutation c.3642C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 101995030:101995030(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3378G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102047962:102047962(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs536121075
CDS Mutation c.13152G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102033424:102033424(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752990027
CDS Mutation c.10353C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 67
Mutation Consequence frameshift_variant
Transcription ID ENST00000360184
Start 102043958:102043958(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.12600delG
AA Mutation p.Trp4201GlyfsTer43(p.W4201Gfs*43)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000360184
Start 102017141:102017141(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7905delT
AA Mutation p.Phe2635LeufsTer67(p.F2635Lfs*67)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000360184
Start 102006154:102006154(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5705delG
AA Mutation p.Gly1902ValfsTer27(p.G1902Vfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000360184
Start 102000394:102000394(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4069C>T
AA Mutation p.Arg1357Ter(p.R1357*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000360184
Start 102027998:102027999(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9327_9333dupCACAAGT
AA Mutation p.Lys3112HisfsTer3(p.K3112Hfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 72
Mutation Consequence splice_donor_variant
Transcription ID ENST00000360184
Start 102004684:102004684(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5049+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 73
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000360184
Start 102042227:102042227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12215-1G>A
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> DYNC1H1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102000962:102000962(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4083A>C
AA Mutation p.Gln1361His(p.Q1361H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000360184
Start 102010277:102010277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6223C>G
AA Mutation p.Leu2075Val(p.L2075V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101995071:101995071(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780331
CDS Mutation c.3419C>T
AA Mutation p.Thr1140Met(p.T1140M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101997146:101997146(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3676C>T
AA Mutation p.Arg1226Trp(p.R1226W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102015123:102015123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7033G>C
AA Mutation p.Val2345Leu(p.V2345L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102016429:102016429(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7554C>G
AA Mutation p.Ile2518Met(p.I2518M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 101986140:101986140(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1915C>T
AA Mutation p.Arg639Cys(p.R639C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102027516:102027516(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs797045537
CDS Mutation c.9020G>A
AA Mutation p.Arg3007Gln(p.R3007Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102027662:102027662(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9092C>T
AA Mutation p.Thr3031Met(p.T3031M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000360184
Start 102033135:102033135(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10150C>T
AA Mutation p.Arg3384Trp(p.R3384W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000360184
Start 102048517:102048517(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13220A>G
AA Mutation p.Asp4407Gly(p.D4407G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102015299:102015299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7209T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000360184
Start 102004575:102004575(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748301926
CDS Mutation c.4941C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000360184
Start 102027995:102027995(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9322G>T
AA Mutation p.Glu3108Ter(p.E3108*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript