Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> DNAH12

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57429704:57429704(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4982T>A
AA Mutation p.Leu1661His(p.L1661H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57523879:57523879(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.176A>G
AA Mutation p.Asp59Gly(p.D59G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57334801:57334801(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7210C>T
AA Mutation p.Pro2404Ser(p.P2404S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57489597:57489597(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1426T>G
AA Mutation p.Leu476Val(p.L476V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57301900:57301900(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8625A>C
AA Mutation p.Glu2875Asp(p.E2875D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57334475:57334475(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7364G>T
AA Mutation p.Arg2455Ile(p.R2455I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57483506:57483506(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1520G>A
AA Mutation p.Cys507Tyr(p.C507Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000351747
Start 57453015:57453015(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3545G>A
AA Mutation p.Gly1182Asp(p.G1182D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57472617:57472617(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1705G>C
AA Mutation p.Asp569His(p.D569H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57323577:57323577(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7417A>G
AA Mutation p.Lys2473Glu(p.K2473E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000351747
Start 57470444:57470444(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755250353
CDS Mutation c.2104C>T
AA Mutation p.Arg702Trp(p.R702W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57483476:57483476(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1550C>A
AA Mutation p.Ala517Glu(p.A517E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57502370:57502370(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1196C>T
AA Mutation p.Ala399Val(p.A399V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57471521:57471521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759126410
CDS Mutation c.1862G>A
AA Mutation p.Arg621His(p.R621H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57436999:57436999(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4538T>G
AA Mutation p.Phe1513Cys(p.F1513C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57405831:57405831(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6341C>T
AA Mutation p.Ala2114Val(p.A2114V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57322357:57322357(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7906C>T
AA Mutation p.Arg2636Cys(p.R2636C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57507753:57507753(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.787T>C
AA Mutation p.Trp263Arg(p.W263R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57502357:57502357(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1209C>A
AA Mutation p.Asn403Lys(p.N403K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57483383:57483383(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1643G>T
AA Mutation p.Arg548Met(p.R548M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57352199:57352199(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201738705
CDS Mutation c.6956G>A
AA Mutation p.Arg2319His(p.R2319H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57323132:57323132(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7654T>G
AA Mutation p.Cys2552Gly(p.C2552G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57445372:57445372(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4158A>G
AA Mutation p.Ile1386Met(p.I1386M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57446602:57446602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3805G>A
AA Mutation p.Ala1269Thr(p.A1269T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57452961:57452961(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3599A>C
AA Mutation p.Glu1200Ala(p.E1200A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57457958:57457958(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3030G>T
AA Mutation p.Glu1010Asp(p.E1010D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57459764:57459764(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2690G>A
AA Mutation p.Arg897Gln(p.R897Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57461586:57461586(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs79380221
CDS Mutation c.2570C>T
AA Mutation p.Ser857Leu(p.S857L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57510798:57510798(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764250955
CDS Mutation c.461G>T
AA Mutation p.Arg154Ile(p.R154I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57452941:57452941(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs191653485
CDS Mutation c.3619C>T
AA Mutation p.Arg1207Cys(p.R1207C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57428374:57428374(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5258T>G
AA Mutation p.Phe1753Cys(p.F1753C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57334501:57334501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7338G>T
AA Mutation p.Gln2446His(p.Q2446H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57408428:57408428(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6071G>A
AA Mutation p.Arg2024Gln(p.R2024Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57459600:57459600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2854G>T
AA Mutation p.Asp952Tyr(p.D952Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000351747
Start 57437060:57437060(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4477G>A
AA Mutation p.Glu1493Lys(p.E1493K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57483399:57483399(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1627G>A
AA Mutation p.Glu543Lys(p.E543K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57405810:57405810(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6362G>A
AA Mutation p.Arg2121His(p.R2121H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57446215:57446215(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3926G>A
AA Mutation p.Arg1309Gln(p.R1309Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57334494:57334494(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7345A>G
AA Mutation p.Ile2449Val(p.I2449V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57446678:57446678(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748246318
CDS Mutation c.3729C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57446034:57446034(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4107T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57502453:57502453(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1113A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57334880:57334880(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7131T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57323214:57323214(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7572T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57446100:57446100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4041G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57509178:57509178(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150553536
CDS Mutation c.504G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57433765:57433765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201719583
CDS Mutation c.4650G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57454784:57454784(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs534663692
CDS Mutation c.3378C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57429700:57429700(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4986C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57323515:57323515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7479C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57403369:57403369(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6831T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57323013:57323013(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7773T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57502401:57502401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1165T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57405683:57405683(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6489C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57309240:57309240(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532300604
CDS Mutation c.8496C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57296421:57296421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8943T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57471552:57471553(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1830_1831delGA
AA Mutation p.Lys611ThrfsTer42(p.K611Tfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57457919:57457919(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3069delA
AA Mutation p.Lys1023AsnfsTer9(p.K1023Nfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000351747
Start 57404971:57404971(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6696delT
AA Mutation p.Phe2232LeufsTer15(p.F2232Lfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57542805:57542805(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.66delC
AA Mutation p.Ile23LeufsTer8(p.I23Lfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57472643:57472643(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1679delT
AA Mutation p.Leu560Ter(p.L560*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57428681:57428681(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5136delT
AA Mutation p.Phe1712LeufsTer4(p.F1712Lfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57452974:57452974(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3586C>T
AA Mutation p.Arg1196Ter(p.R1196*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57502419:57502419(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377045718
CDS Mutation c.1147G>T
AA Mutation p.Glu383Ter(p.E383*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57310938:57310938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8071G>T
AA Mutation p.Glu2691Ter(p.E2691*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57489519:57489519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1504G>T
AA Mutation p.Glu502Ter(p.E502*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57459756:57459756(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2698G>T
AA Mutation p.Glu900Ter(p.E900*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57446125:57446126(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4015dupG
AA Mutation p.Glu1339GlyfsTer6(p.E1339Gfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 69
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57314595:57314596(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.7956dupT
AA Mutation p.His2653SerfsTer22(p.H2653Sfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 70
Mutation Consequence frameshift_variant
Transcription ID ENST00000351747
Start 57509177:57509178(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.504_505insTATA
AA Mutation p.Leu169TyrfsTer3(p.L169Yfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 71
Mutation Consequence splice_donor_variant
Transcription ID ENST00000351747
Start 57523802:57523802(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.252+1G>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> DNAH12

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57404990:57404990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6677G>T
AA Mutation p.Arg2226Ile(p.R2226I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57461576:57461576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2580G>T
AA Mutation p.Glu860Asp(p.E860D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57446057:57446057(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4084C>T
AA Mutation p.Arg1362Cys(p.R1362C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57468812:57468812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2273A>G
AA Mutation p.Lys758Arg(p.K758R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57457755:57457755(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778714312
CDS Mutation c.3233G>A
AA Mutation p.Arg1078Gln(p.R1078Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57508526:57508526(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.557C>A
AA Mutation p.Ser186Tyr(p.S186Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57309827:57309827(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8320A>C
AA Mutation p.Ile2774Leu(p.I2774L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57454860:57454860(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571195009
CDS Mutation c.3302G>A
AA Mutation p.Arg1101Gln(p.R1101Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57489679:57489679(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1344A>C
AA Mutation p.Glu448Asp(p.E448D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000351747
Start 57502343:57502343(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1223G>T
AA Mutation p.Arg408Ile(p.R408I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57472564:57472564(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1758C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000351747
Start 57433807:57433807(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4608T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57433474:57433474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4804G>T
AA Mutation p.Glu1602Ter(p.E1602*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57421625:57421625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5398C>T
AA Mutation p.Arg1800Ter(p.R1800*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000351747
Start 57504117:57504117(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.985G>T
AA Mutation p.Glu329Ter(p.E329*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000351747
Start 57322485:57322485(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7780-2A>T
Mutation Classification Splice_Site
Feature Type Transcript