Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NAV3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78007093:78007093(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1555A>C
AA Mutation p.Ser519Arg(p.S519R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78190050:78190050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6122G>A
AA Mutation p.Arg2041Lys(p.R2041K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78006565:78006565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1027G>A
AA Mutation p.Ala343Thr(p.A343T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78204971:78204971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6871A>G
AA Mutation p.Lys2291Glu(p.K2291E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78199394:78199394(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772821927
CDS Mutation c.6578G>A
AA Mutation p.Arg2193Gln(p.R2193Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78210482:78210482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7123G>T
AA Mutation p.Asp2375Tyr(p.D2375Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78200484:78200484(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6727T>C
AA Mutation p.Phe2243Leu(p.F2243L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78179665:78179665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5500G>A
AA Mutation p.Ala1834Thr(p.A1834T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 77968533:77968533(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.502A>C
AA Mutation p.Asn168His(p.N168H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78006549:78006549(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1011G>T
AA Mutation p.Met337Ile(p.M337I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78051122:78051122(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2491C>A
AA Mutation p.Leu831Ile(p.L831I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78119942:78119942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781607195
CDS Mutation c.3746G>A
AA Mutation p.Arg1249Gln(p.R1249Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78021791:78021791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1952C>T
AA Mutation p.Ser651Phe(p.S651F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78119759:78119759(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774128541
CDS Mutation c.3563G>A
AA Mutation p.Arg1188His(p.R1188H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78122272:78122272(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751841384
CDS Mutation c.4082C>T
AA Mutation p.Pro1361Leu(p.P1361L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78199433:78199433(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6617G>A
AA Mutation p.Arg2206His(p.R2206H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78006694:78006694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1156G>C
AA Mutation p.Glu386Gln(p.E386Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78205044:78205044(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs552595814
CDS Mutation c.6944G>A
AA Mutation p.Arg2315Gln(p.R2315Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78006845:78006845(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1307C>T
AA Mutation p.Thr436Ile(p.T436I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78122077:78122077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3887G>C
AA Mutation p.Gly1296Ala(p.G1296A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78210429:78210429(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769108163
CDS Mutation c.7070C>T
AA Mutation p.Ala2357Val(p.A2357V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 77968557:77968557(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.526T>G
AA Mutation p.Phe176Val(p.F176V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78007420:78007420(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1882G>A
AA Mutation p.Ala628Thr(p.A628T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78122070:78122070(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762424798
CDS Mutation c.3880G>A
AA Mutation p.Gly1294Ser(p.G1294S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397909
Start 77968702:77968702(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.671G>T
AA Mutation p.Ser224Ile(p.S224I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78199391:78199391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6575T>G
AA Mutation p.Leu2192Arg(p.L2192R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 77831471:77831471(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10C>T
AA Mutation p.Leu4Phe(p.L4F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78181042:78181042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5689T>G
AA Mutation p.Ser1897Ala(p.S1897A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78197337:78197337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6382C>G
AA Mutation p.Leu2128Val(p.L2128V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78050029:78050029(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2060A>C
AA Mutation p.Lys687Thr(p.K687T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78128846:78128846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4421A>T
AA Mutation p.Lys1474Ile(p.K1474I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78159263:78159263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4846C>A
AA Mutation p.Leu1616Ile(p.L1616I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78197328:78197328(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6373C>A
AA Mutation p.Leu2125Ile(p.L2125I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 77940334:77940334(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.259G>A
AA Mutation p.Ala87Thr(p.A87T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78006944:78006944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1406A>C
AA Mutation p.Glu469Ala(p.E469A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78180943:78180943(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373268800
CDS Mutation c.5590C>T
AA Mutation p.Arg1864Trp(p.R1864W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 77968573:77968573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377223602
CDS Mutation c.542G>A
AA Mutation p.Arg181His(p.R181H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78181034:78181034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5681C>T
AA Mutation p.Ala1894Val(p.A1894V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78119692:78119692(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757020983
CDS Mutation c.3496G>A
AA Mutation p.Val1166Ile(p.V1166I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78006985:78006985(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1447C>A
AA Mutation p.Pro483Thr(p.P483T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78137228:78137228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4493G>A
AA Mutation p.Arg1498His(p.R1498H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78137321:78137321(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368227685
CDS Mutation c.4586G>A
AA Mutation p.Arg1529His(p.R1529H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78148914:78148914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4780G>T
AA Mutation p.Ala1594Ser(p.A1594S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78188265:78188265(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5808A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78137337:78137337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4602G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78119244:78119244(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3048C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 77940360:77940360(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.285C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78119814:78119814(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3618C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78007419:78007419(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746896622
CDS Mutation c.1881C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78050075:78050075(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2106T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78051130:78051130(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2499T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78050878:78050878(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367740483
CDS Mutation c.2247G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78050767:78050767(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2136C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78188641:78188641(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5919C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78188301:78188301(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5844C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78118287:78118287(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3030C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78121994:78121994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3804T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78177218:78177218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5202G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78128724:78128724(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4299G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78006993:78006993(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1455A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78006777:78006777(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1239T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000397909
Start 78007026:78007026(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1493delA
AA Mutation p.Lys498ArgfsTer8(p.K498Rfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000397909
Start 78177244:78177244(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5232delC
AA Mutation p.Lys1745SerfsTer14(p.K1745Sfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000397909
Start 78119487:78119487(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3294delA
AA Mutation p.Lys1098AsnfsTer81(p.K1098Nfs*81)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000397909
Start 78190166:78190166(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6244delA
AA Mutation p.Thr2082GlnfsTer22(p.T2082Qfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained
Transcription ID ENST00000397909
Start 77968635:77968635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.604C>T
AA Mutation p.Arg202Ter(p.R202*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000397909
Start 78059042:78059042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2563C>T
AA Mutation p.Arg855Ter(p.R855*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence frameshift_variant
Transcription ID ENST00000397909
Start 78188704:78188705(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5982_5983insT
AA Mutation p.Leu1995SerfsTer5(p.L1995Sfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 69
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000397909
Start 78050763:78050763(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2133-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 70
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000397909
Start 78185599:78185599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5693-2A>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 71
Mutation Consequence protein_altering_variant
Transcription ID ENST00000397909
Start 78188705:78188706(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5983_5984insACAGGGATA
AA Mutation p.Leu1995delinsHisArgAspIle(p.L1995delinsHRDI)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> NAV3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78006554:78006554(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1016T>G
AA Mutation p.Val339Gly(p.V339G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78021821:78021821(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1982C>T
AA Mutation p.Ser661Leu(p.S661L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78118208:78118208(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2951C>T
AA Mutation p.Ser984Leu(p.S984L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78128723:78128723(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377221679
CDS Mutation c.4298G>A
AA Mutation p.Arg1433Gln(p.R1433Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 77994846:77994846(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.715G>A
AA Mutation p.Ala239Thr(p.A239T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 77831550:77831550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.89G>A
AA Mutation p.Gly30Asp(p.G30D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78122295:78122295(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4105C>A
AA Mutation p.Leu1369Ile(p.L1369I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78197290:78197290(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6335C>A
AA Mutation p.Ala2112Asp(p.A2112D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78190007:78190007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6079A>T
AA Mutation p.Ser2027Cys(p.S2027C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78118044:78118044(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2787G>T
AA Mutation p.Glu929Asp(p.E929D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78168810:78168810(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4925C>T
AA Mutation p.Ser1642Phe(p.S1642F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78197328:78197328(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6373C>A
AA Mutation p.Leu2125Ile(p.L2125I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78198621:78198621(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6463A>T
AA Mutation p.Thr2155Ser(p.T2155S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78205052:78205052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6952G>T
AA Mutation p.Asp2318Tyr(p.D2318Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78050040:78050040(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2071G>T
AA Mutation p.Asp691Tyr(p.D691Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78140317:78140317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4666T>A
AA Mutation p.Ser1556Thr(p.S1556T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78179589:78179589(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5424A>C
AA Mutation p.Arg1808Ser(p.R1808S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78199450:78199450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6634A>G
AA Mutation p.Lys2212Glu(p.K2212E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000397909
Start 78200565:78200565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6808C>A
AA Mutation p.Leu2270Met(p.L2270M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78021771:78021771(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368619435
CDS Mutation c.1932C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78006738:78006738(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs202050601
CDS Mutation c.1200G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78179532:78179532(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5367C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000397909
Start 78188647:78188647(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5925T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence stop_gained
Transcription ID ENST00000397909
Start 78119420:78119420(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3224C>A
AA Mutation p.Ser1075Ter(p.S1075*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000397909
Start 78006754:78006754(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1216G>T
AA Mutation p.Gly406Ter(p.G406*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000397909
Start 78006994:78006994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1456G>T
AA Mutation p.Glu486Ter(p.E486*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence stop_gained
Transcription ID ENST00000397909
Start 78050990:78050990(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2359C>T
AA Mutation p.Arg787Ter(p.R787*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence stop_gained
Transcription ID ENST00000397909
Start 78128709:78128709(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4284T>G
AA Mutation p.Tyr1428Ter(p.Y1428*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript