ClinVar Miner

List of variants in gene EVC studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1886+172C>A rs4689303 0.99999
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72808
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71896
NM_153717.3(EVC):c.2449+83C>T rs1031918 0.69724
NM_153717.3(EVC):c.1886+266G>A rs13101471 0.68428
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.1886+253C>T rs13103000 0.61295
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60306
NM_153717.3(EVC):c.*931T>C rs6840435 0.56438
NM_153717.3(EVC):c.802-311T>C rs1351357 0.56398
NM_153717.3(EVC):c.939+224C>T rs1001180 0.56133
NM_153717.3(EVC):c.939+63C>A rs13145958 0.55696
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_153717.3(EVC):c.1098+51A>T rs4688961 0.52726
NM_153717.3(EVC):c.300+213C>T rs4539985 0.50006
NM_153717.3(EVC):c.1776+206C>G rs2878427 0.48655
NM_153717.3(EVC):c.1316-139G>C rs7660793 0.44434
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41933
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
NM_153717.3(EVC):c.940-71G>A rs4689311 0.41251
NM_153717.3(EVC):c.940-91G>A rs4689312 0.41054
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_153717.3(EVC):c.1098+123A>G rs13143108 0.40131
NM_153717.3(EVC):c.1098+194C>T rs13116719 0.39190
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_153717.3(EVC):c.1887-122G>A rs2291152 0.31976
NM_153717.3(EVC):c.702+154G>C rs36091422 0.30585
NM_153717.3(EVC):c.2561+221A>G rs2279251 0.29809
NM_153717.3(EVC):c.2450-91T>C rs1552057 0.29056
NM_153717.3(EVC):c.1316-220G>A rs752061 0.28445
NM_153717.3(EVC):c.2449+82A>G rs2306399 0.28404
NM_153717.3(EVC):c.2097+118G>A rs12509231 0.27796
NM_153717.3(EVC):c.1563+1771A>G rs6828631 0.27077
NM_153717.3(EVC):c.1465-285A>G rs12499446 0.26870
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_153717.3(EVC):c.2305-44C>T rs2306400 0.26578
NM_153717.3(EVC):c.*2268G>A rs4261923 0.26298
NM_153717.3(EVC):c.2895-114A>G rs2279247 0.26058
NM_153717.3(EVC):c.2895-249T>C rs2279248 0.24744
NM_153717.3(EVC):c.1098+231C>T rs199978696 0.21529
NM_153717.3(EVC):c.1098+230C>G rs56236353 0.21400
NM_153717.3(EVC):c.939+114G>A rs28609792 0.21365
NM_153717.3(EVC):c.702+141C>T rs2291155 0.21152
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21125
NM_153717.3(EVC):c.*1112T>C rs28460555 0.21076
NM_153717.3(EVC):c.1098+232A>G rs56287837 0.20815
NM_153717.3(EVC):c.801+240C>T rs1480169 0.20327
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
NM_153717.3(EVC):c.1464+236G>T rs9637548 0.19694
NM_153717.3(EVC):c.618-196C>G rs73795032 0.18001
NM_153717.3(EVC):c.301-80G>A rs2276875 0.17248
NM_153717.3(EVC):c.1563+1897C>T rs56328334 0.16475
NM_153717.3(EVC):c.174+238T>A rs3755844 0.16057
NM_153717.3(EVC):c.174+31G>C rs2276874 0.15083
NM_153717.3(EVC):c.2894+248A>T rs2279249 0.14782
NM_153717.3(EVC):c.1098+244_1098+311del rs1560330268 0.14696
NM_153717.3(EVC):c.940-61C>T rs4688964 0.14632
NM_153717.3(EVC):c.1464+177T>A rs2302074 0.14282
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
NM_153717.3(EVC):c.*210C>A rs16837692 0.13049
NM_153717.3(EVC):c.*1218C>T rs12501119 0.13032
NM_153717.3(EVC):c.*3165T>C rs3755847 0.12593
NM_153717.3(EVC):c.*2680G>A rs3733187 0.12188
NM_153717.3(EVC):c.*2871C>T rs3733189 0.11820
NM_153717.3(EVC):c.940-266C>T rs73200158 0.11530
NM_153717.3(EVC):c.174+303C>T rs3755845 0.11358
NM_153717.3(EVC):c.2561+144G>T rs62297684 0.11058
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_153717.3(EVC):c.940-259T>G rs57112774 0.10165
NM_153717.3(EVC):c.1315+271C>T rs11731603 0.10108
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.10006
NM_153717.3(EVC):c.2097+111A>C rs76138881 0.09059
NM_153717.3(EVC):c.618-121G>A rs75063475 0.08996
NM_153717.3(EVC):c.1886+202G>C rs41269561 0.08534
NM_153717.3(EVC):c.2782+145G>T rs28722043 0.08527
NM_153717.3(EVC):c.384+41C>T rs113870218 0.08516
NM_153717.3(EVC):c.1098+272A>G rs567230595 0.08270
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_153717.3(EVC):c.385-174G>A rs1871587 0.07869
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.617+133G>C rs41269553 0.07170
NM_153717.3(EVC):c.2688+330C>T rs28479075 0.06937
NM_153717.3(EVC):c.2783-269A>G rs9991936 0.06936
NM_153717.3(EVC):c.802-313A>G rs28600172 0.06727
NM_153717.3(EVC):c.*2009T>C rs79152885 0.06541
NM_153717.3(EVC):c.*53T>C rs7676531 0.06533
NM_153717.3(EVC):c.2782+173G>T rs113039000 0.06505
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_153717.3(EVC):c.617+154A>G rs55634350 0.06419
NM_153717.3(EVC):c.1098+119del rs150500409 0.06404
NM_153717.3(EVC):c.702+27C>G rs16837599 0.06199
NM_153717.3(EVC):c.2449+317A>T rs7694192 0.06033
NM_153717.3(EVC):c.1098+297C>T rs13116942 0.06011
NM_153717.3(EVC):c.1099-144G>T rs60938393 0.05978
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_153717.3(EVC):c.1098+277C>T rs62300389 0.05879
NM_153717.3(EVC):c.385-170T>A rs28718969 0.05370
NM_153717.3(EVC):c.939+84A>G rs16837617 0.05326
NM_153717.3(EVC):c.801+231del rs140940968 0.04155
NM_153717.3(EVC):c.2562-45T>C rs1249571815 0.03730
NM_153717.3(EVC):c.2782+264A>G rs78275936 0.03258
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03038
NM_153717.3(EVC):c.175-236G>T rs79190209 0.02934
NM_153717.3(EVC):c.940-68C>T rs56193413 0.02883
NM_153717.3(EVC):c.802-242G>A rs73200154 0.02771
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02598
NM_153717.3(EVC):c.1098+293T>C rs1480974188 0.02409
NM_153717.3(EVC):c.*1083T>G rs71599850 0.01938
NM_153717.3(EVC):c.1887-90C>T rs111250893 0.01818
NM_153717.3(EVC):c.1563+1754G>A rs115269936 0.01620
NM_153717.3(EVC):c.2450-207C>T rs73077529 0.01618
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01539
NM_153717.3(EVC):c.1464+58G>A rs75743916 0.01534
NM_153717.3(EVC):c.*1123A>G rs112378896 0.01481
NM_153717.3(EVC):c.*820C>T rs137860758 0.01469
NM_153717.3(EVC):c.1464+272C>T rs7667883 0.01430
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_153717.3(EVC):c.2098-294C>T rs112863125 0.01392
NM_153717.3(EVC):c.301-268T>C rs115771644 0.01388
NM_153717.3(EVC):c.2688+33A>G rs6845066 0.01368
NM_153717.3(EVC):c.2689-225G>A rs73077601 0.01322
NM_153717.3(EVC):c.2098-229C>T rs78475125 0.01320
NM_153717.3(EVC):c.2097+40G>A rs80194963 0.01301
NM_153717.3(EVC):c.174+151C>T rs75071940 0.01272
NM_153717.3(EVC):c.1777-96C>T rs58369380 0.01214
NM_153717.3(EVC):c.1564-240G>T rs115336887 0.01198
NM_153717.3(EVC):c.2305-45A>C rs114214189 0.01191
NM_153717.3(EVC):c.2688+272A>G rs75292798 0.01180
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2688+301C>G rs76663613 0.01162
NM_153717.3(EVC):c.940-61_940-60insCTTTG rs144810134 0.01160
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_153717.3(EVC):c.2783-271G>A rs74714062 0.01102
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01090
NM_153717.3(EVC):c.1563+217A>G rs115641097 0.01086
NM_153717.3(EVC):c.385-16C>T rs113571700 0.01046
NM_153717.3(EVC):c.*798T>G rs13101313 0.01027
NM_153717.3(EVC):c.2561+258G>A rs73795095 0.00970
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00921
NM_153717.3(EVC):c.1315+202G>A rs115275064 0.00875
NM_153717.3(EVC):c.1886+142C>T rs41269559 0.00842
NM_153717.3(EVC):c.1887-160A>C rs11729308 0.00781
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00780
NM_153717.3(EVC):c.1564-205G>T rs114987721 0.00779
NM_153717.3(EVC):c.2783-114A>G rs112443560 0.00776
NM_153717.3(EVC):c.2098-41G>A rs148639524 0.00773
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_153717.3(EVC):c.2895-105A>C rs141031111 0.00742
NM_153717.3(EVC):c.301-218C>T rs144757429 0.00727
NM_153717.3(EVC):c.175-120C>T rs41269545 0.00723
NM_153717.3(EVC):c.1316-57C>G rs79758861 0.00719
NM_153717.3(EVC):c.2895-34G>A rs78968801 0.00703
NM_153717.3(EVC):c.2305-58G>A rs115678357 0.00678
NM_153717.3(EVC):c.384+282C>T rs116362495 0.00664
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00661
NM_153717.3(EVC):c.617+144G>A rs115477664 0.00648
NM_153717.3(EVC):c.2562-142C>G rs148894154 0.00642
NM_153717.3(EVC):c.801+216T>C rs76877650 0.00611
NM_153717.3(EVC):c.2689-23del rs200834058 0.00593
NM_153717.3(EVC):c.385-332T>C rs115572273 0.00589
NM_153717.3(EVC):c.300+209A>G rs114795599 0.00565
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00547
NM_153717.3(EVC):c.2689-285G>C rs144640786 0.00535
NM_153717.3(EVC):c.1564-258A>T rs112473947 0.00531
NM_153717.3(EVC):c.801+223T>C rs116167025 0.00529
NM_153717.3(EVC):c.2561+294C>T rs73204293 0.00498
NM_153717.3(EVC):c.2561+134C>T rs141619432 0.00459
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.1315+189C>T rs147951625 0.00436
NM_153717.3(EVC):c.1098+280A>G rs552568788 0.00398
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00328
NM_153717.3(EVC):c.939+50G>A rs144142557 0.00328
NM_153717.3(EVC):c.*1439C>T rs188270163 0.00310
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00211
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00196
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00106
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00097
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00086
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00075
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.618-22C>T rs2291156 0.00062
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_153717.3(EVC):c.*2310G>A rs539844915 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_153717.3(EVC):c.2304+60A>C rs73077517 0.00038
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_153717.3(EVC):c.91G>A (p.Ala31Thr) rs952757087 0.00023
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00019
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser) rs183114391 0.00016
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00013
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2368G>A (p.Val790Met) rs749975914 0.00005
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_153717.3(EVC):c.1093G>A (p.Ala365Thr) rs370388849 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_153717.3(EVC):c.2426T>G (p.Leu809Arg) rs200839198 0.00002
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.1082A>G (p.Gln361Arg) rs886043999 0.00001
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1315+7C>T rs1252318929 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2304+2T>C rs1553892090 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.499G>A (p.Gly167Ser) rs567701930 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572 0.00001
GRCh37/hg19 4p16.2(chr4:5720274-5800154)x1
GRCh37/hg19 4p16.2(chr4:5731034-5772656)x1
GRCh37/hg19 4p16.2(chr4:5731073-5762301)x3
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro) rs1729675412
NM_153717.3(EVC):c.1098+131del rs201170910
NM_153717.3(EVC):c.1098+229_1098+230insGTGTCCATCCATCTAC rs143227724
NM_153717.3(EVC):c.1098+260ATCC[6] rs202244004
NM_153717.3(EVC):c.1098+277_1098+280del rs200613491
NM_153717.3(EVC):c.1098+288_1098+289insCCCACCCA rs1448895713
NM_153717.3(EVC):c.1099-167G>C rs6810769
NM_153717.3(EVC):c.1099-208C>A rs6812234
NM_153717.3(EVC):c.1099-208C>T rs6812234
NM_153717.3(EVC):c.1113G>T (p.Arg371Ser)
NM_153717.3(EVC):c.1132A>G (p.Met378Val)
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1315+253C>T rs116816567
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg) rs1473605830
NM_153717.3(EVC):c.1390C>G (p.Leu464Val) rs986329571
NM_153717.3(EVC):c.1409A>G (p.Gln470Arg)
NM_153717.3(EVC):c.1416del (p.Phe473fs) rs768485560
NM_153717.3(EVC):c.1458T>G (p.Phe486Leu)
NM_153717.3(EVC):c.1465-44del rs5855888
NM_153717.3(EVC):c.1465-44dup rs5855888
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1563+185A>G rs12499655
NM_153717.3(EVC):c.1595A>G (p.Gln532Arg) rs2476466696
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1720C>T (p.Arg574Cys) rs141820870
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.172C>T (p.Gln58Ter) rs1057517899
NM_153717.3(EVC):c.1771C>T (p.Gln591Ter) rs2152289454
NM_153717.3(EVC):c.1776+199C>T rs112126279
NM_153717.3(EVC):c.1776+4C>T rs761724907
NM_153717.3(EVC):c.1783_1886+40del rs2152326431
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1886+5G>A rs794726665
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1979C>T (p.Thr660Met) rs550100215
NM_153717.3(EVC):c.2098-178_2098-168del rs3830226
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2305-259_2305-258del rs35554149
NM_153717.3(EVC):c.2305-260_2305-258del rs35554149
NM_153717.3(EVC):c.2305-261_2305-258del rs35554149
NM_153717.3(EVC):c.2329G>T (p.Glu777Ter) rs780000441
NM_153717.3(EVC):c.2416del (p.Glu806fs) rs2152362140
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2504C>A (p.Ser835Ter) rs1560439043
NM_153717.3(EVC):c.252del (p.Arg85fs) rs1560274387
NM_153717.3(EVC):c.2561+232del rs3214939
NM_153717.3(EVC):c.2561+90G>A rs112874041
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2562-70CTCC[6] rs1177063514
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn) rs1264987350
NM_153717.3(EVC):c.2601A>G (p.Pro867=)
NM_153717.3(EVC):c.2782+103C>T rs3733185
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs) rs1560450412
NM_153717.3(EVC):c.301-171C>T rs111861127
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.385-84G>T rs1871586
NM_153717.3(EVC):c.414dup (p.Leu139fs) rs2151935061
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.645_647delinsG (p.Ser215fs) rs2474716865
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.703-265C>T rs149486305
NM_153717.3(EVC):c.703-4del rs2152000379
NM_153717.3(EVC):c.758C>G (p.Ser253Ter) rs762795511
NM_153717.3(EVC):c.770T>A (p.Leu257Gln) rs750565190
NM_153717.3(EVC):c.801+93A>C rs58903969
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.802-15_802-9delinsT rs1577406898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-220del rs112283154
NM_153717.3(EVC):c.802-221_802-220del rs112283154
NM_153717.3(EVC):c.802-224_802-220dup rs112283154
NM_153717.3(EVC):c.802-225_802-220dup rs112283154
NM_153717.3(EVC):c.82C>A (p.Leu28Met) rs1723001259
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.939+40del rs3214258
NM_153717.3(EVC):c.940-59_940-55dup rs58769270

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