Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> VPS13C

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61854938:61854938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11093A>C
AA Mutation p.His3698Pro(p.H3698P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61854882:61854882(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757874830
CDS Mutation c.11149G>A
AA Mutation p.Ala3717Thr(p.A3717T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61880896:61880896(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9835G>A
AA Mutation p.Ala3279Thr(p.A3279T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61919410:61919410(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7517C>A
AA Mutation p.Ala2506Asp(p.A2506D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 62007454:62007454(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376883209
CDS Mutation c.1144C>A
AA Mutation p.Leu382Ile(p.L382I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000261517
Start 61946408:61946408(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4879A>G
AA Mutation p.Met1627Val(p.M1627V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61981380:61981380(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2128A>C
AA Mutation p.Lys710Gln(p.K710Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61915967:61915967(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201012988
CDS Mutation c.8111C>T
AA Mutation p.Ser2704Leu(p.S2704L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61868729:61868729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10793G>A
AA Mutation p.Arg3598His(p.R3598H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 62023833:62023833(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.461A>C
AA Mutation p.Lys154Thr(p.K154T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61961784:61961784(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139602306
CDS Mutation c.3713G>A
AA Mutation p.Arg1238His(p.R1238H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61931247:61931247(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5881G>A
AA Mutation p.Ala1961Thr(p.A1961T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000261517
Start 61967445:61967445(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2914T>C
AA Mutation p.Ser972Pro(p.S972P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61925511:61925511(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146858303
CDS Mutation c.6554C>T
AA Mutation p.Thr2185Met(p.T2185M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61919317:61919317(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7610A>G
AA Mutation p.Lys2537Arg(p.K2537R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 62008734:62008734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1039T>C
AA Mutation p.Ser347Pro(p.S347P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61973458:61973458(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2613A>T
AA Mutation p.Glu871Asp(p.E871D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61927126:61927126(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6481T>C
AA Mutation p.Phe2161Leu(p.F2161L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61909035:61909035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8935A>G
AA Mutation p.Ile2979Val(p.I2979V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61919302:61919302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146692144
CDS Mutation c.7625G>A
AA Mutation p.Arg2542His(p.R2542H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61907374:61907374(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8995A>T
AA Mutation p.Met2999Leu(p.M2999L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61927219:61927219(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6388G>A
AA Mutation p.Ala2130Thr(p.A2130T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61982507:61982507(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1981T>C
AA Mutation p.Ser661Pro(p.S661P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61877034:61877034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10163G>A
AA Mutation p.Arg3388Gln(p.R3388Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61919317:61919317(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7610A>C
AA Mutation p.Lys2537Thr(p.K2537T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61925487:61925487(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6578T>C
AA Mutation p.Ile2193Thr(p.I2193T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61941788:61941788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773454635
CDS Mutation c.5428G>A
AA Mutation p.Glu1810Lys(p.E1810K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61950974:61950974(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201596208
CDS Mutation c.4507G>A
AA Mutation p.Glu1503Lys(p.E1503K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61854502:61854502(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11217G>T
AA Mutation p.Met3739Ile(p.M3739I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61869552:61869552(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10696C>A
AA Mutation p.Pro3566Thr(p.P3566T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61911899:61911899(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140395700
CDS Mutation c.8656G>A
AA Mutation p.Glu2886Lys(p.E2886K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61922491:61922491(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs560778934
CDS Mutation c.6881G>A
AA Mutation p.Arg2294Gln(p.R2294Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61964742:61964742(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3171A>C
AA Mutation p.Gln1057His(p.Q1057H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61922756:61922756(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6616C>T
AA Mutation p.Pro2206Ser(p.P2206S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61874945:61874945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10345G>C
AA Mutation p.Val3449Leu(p.V3449L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 62041361:62041361(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.150A>C
AA Mutation p.Glu50Asp(p.E50D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61959518:61959518(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575609391
CDS Mutation c.3986G>A
AA Mutation p.Arg1329Gln(p.R1329Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61958698:61958698(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4075G>T
AA Mutation p.Asp1359Tyr(p.D1359Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000261517
Start 62034970:62034970(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.270T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000261517
Start 61958630:61958630(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4143G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000261517
Start 61961783:61961783(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3714T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000261517
Start 61929652:61929652(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6135T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000261517
Start 61947302:61947302(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4767C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000261517
Start 61977114:61977114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs546628112
CDS Mutation c.2376G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000261517
Start 61945826:61945826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5037T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 62023499:62023499(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.536delA
AA Mutation p.Lys179ArgfsTer12(p.K179Rfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 47
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 61962469:61962469(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3505delG
AA Mutation p.Asp1169IlefsTer15(p.D1169Ifs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 48
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 61964716:61964716(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3197delA
AA Mutation p.Asn1066IlefsTer25(p.N1066Ifs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 61868732:61868732(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10790delC
AA Mutation p.Pro3597LeufsTer3(p.P3597Lfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 61964852:61964852(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3061delT
AA Mutation p.Ser1021HisfsTer3(p.S1021Hfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 61920157:61920157(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7387delG
AA Mutation p.Glu2463AsnfsTer18(p.E2463Nfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61954432:61954432(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4288G>T
AA Mutation p.Glu1430Ter(p.E1430*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61984945:61984945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1633G>T
AA Mutation p.Glu545Ter(p.E545*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 62007316:62007316(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749246259
CDS Mutation c.1282G>T
AA Mutation p.Glu428Ter(p.E428*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61925470:61925470(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6595G>T
AA Mutation p.Glu2199Ter(p.E2199*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 61991770:61991771(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1385dupA
AA Mutation p.Ser463ValfsTer3(p.S463Vfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000261517
Start 61882732:61882733(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9487_9488insGTGATGATAA
AA Mutation p.Asn3163SerfsTer6(p.N3163Sfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> VPS13C

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61854905:61854905(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs182054663
CDS Mutation c.11126G>A
AA Mutation p.Arg3709Gln(p.R3709Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61910214:61910214(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752129229
CDS Mutation c.8807G>A
AA Mutation p.Arg2936Gln(p.R2936Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61941788:61941788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773454635
CDS Mutation c.5428G>A
AA Mutation p.Glu1810Lys(p.E1810K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61954522:61954522(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4198T>C
AA Mutation p.Ser1400Pro(p.S1400P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61863476:61863476(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10916C>A
AA Mutation p.Pro3639His(p.P3639H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61963868:61963868(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3298G>A
AA Mutation p.Glu1100Lys(p.E1100K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61922491:61922491(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs560778934
CDS Mutation c.6881G>A
AA Mutation p.Arg2294Gln(p.R2294Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61963850:61963850(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750529131
CDS Mutation c.3316G>A
AA Mutation p.Glu1106Lys(p.E1106K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61977098:61977098(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2392G>T
AA Mutation p.Asp798Tyr(p.D798Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 62013045:62013045(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.819G>T
AA Mutation p.Gln273His(p.Q273H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 62013950:62013950(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.727G>T
AA Mutation p.Asp243Tyr(p.D243Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000261517
Start 61936623:61936623(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5729T>C
AA Mutation p.Val1910Ala(p.V1910A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61925470:61925470(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6595G>T
AA Mutation p.Glu2199Ter(p.E2199*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 62007316:62007316(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749246259
CDS Mutation c.1282G>T
AA Mutation p.Glu428Ter(p.E428*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61877035:61877035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10162C>T
AA Mutation p.Arg3388Ter(p.R3388*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61927270:61927270(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6337G>T
AA Mutation p.Glu2113Ter(p.E2113*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61969308:61969308(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2902G>T
AA Mutation p.Glu968Ter(p.E968*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence stop_gained
Transcription ID ENST00000261517
Start 61981383:61981383(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2125G>T
AA Mutation p.Glu709Ter(p.E709*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript