ClinVar Miner

List of variants studied for acrofacial dysostosis by Invitae

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2948
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
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 0.00171
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
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_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
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 0.00120
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_147127.5(EVC2):c.707-18G>A rs144093697 0.00097
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_147127.5(EVC2):c.1005+3G>A rs141371552 0.00082
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_153717.3(EVC):c.802-15_802-12del rs386671011 0.00069
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745 0.00064
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_147127.5(EVC2):c.1886+7C>G rs376738238 0.00049
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg) rs145909403 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_147127.5(EVC2):c.229-4T>G rs375534154 0.00043
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_147127.5(EVC2):c.3272+17G>A rs367667945 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_147127.5(EVC2):c.1470+20A>G rs375025494 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_147127.5(EVC2):c.48G>T (p.Gly16=) rs537265864 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_147127.5(EVC2):c.2898G>A (p.Ser966=) rs150055324 0.00024
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.174+16A>G rs1049950431 0.00023
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala) rs149527560 0.00022
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_147127.5(EVC2):c.894C>T (p.His298=) rs143027693 0.00021
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_153717.3(EVC):c.617+17A>G rs113726930 0.00019
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp) rs148884226 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147127.5(EVC2):c.984A>T (p.Gly328=) rs1023236102 0.00016
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00016
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00014
NM_153717.3(EVC):c.702+17G>T rs559719173 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_147127.5(EVC2):c.284-17G>A rs201654752 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_147127.5(EVC2):c.450+17A>G rs370958428 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_153717.3(EVC):c.2583G>A (p.Arg861=) rs145317746 0.00012
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00011
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.299A>G (p.Asp100Gly) rs1282571678 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_153717.3(EVC):c.540G>A (p.Ser180=) rs200120462 0.00011
NM_153717.3(EVC):c.690G>A (p.Gln230=) rs563481672 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_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_147127.5(EVC2):c.129C>T (p.Gly43=) rs985034372 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.3558-6C>T rs527866261 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.817-17C>A rs371482683 0.00009
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_147127.5(EVC2):c.1041G>A (p.Pro347=) rs778170817 0.00008
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.2250G>A (p.Glu750=) rs552887116 0.00008
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.3558-8G>A rs775806827 0.00008
NM_147127.5(EVC2):c.520-6C>T rs747479747 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223 0.00007
NM_147127.5(EVC2):c.2613C>T (p.Ile871=) rs759358405 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=) rs749901674 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260 0.00006
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676 0.00006
NM_147127.5(EVC2):c.192G>C (p.Pro64=) rs777094897 0.00006
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00006
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr) rs146837459 0.00006
NM_147127.5(EVC2):c.2604C>T (p.Leu868=) rs138672121 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440 0.00006
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261 0.00006
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646 0.00006
NM_153717.3(EVC):c.1564-8C>T rs373957181 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00006
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00006
NM_153717.3(EVC):c.588C>T (p.Asn196=) rs756994584 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477 0.00005
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_147127.5(EVC2):c.2157C>T (p.Ala719=) rs777141609 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=) rs777897646 0.00005
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475 0.00005
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1152T>C (p.Phe384=) rs574038265 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_153717.3(EVC):c.1962C>T (p.Asn654=) rs189626383 0.00005
NM_153717.3(EVC):c.2010C>T (p.Leu670=) rs369722491 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00005
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.1530G>A (p.Leu510=) rs750953517 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913 0.00004
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.3058-4G>A rs1490949079 0.00004
NM_147127.5(EVC2):c.30C>T (p.Pro10=) rs1193570001 0.00004
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=) rs770163191 0.00004
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=) rs756880962 0.00004
NM_147127.5(EVC2):c.3192G>A (p.Val1064=) rs755786659 0.00004
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=) rs776832054 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827 0.00004
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=) rs772566880 0.00004
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234 0.00004
NM_147127.5(EVC2):c.732C>T (p.Tyr244=) rs765159349 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser) rs368314615 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 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.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.279G>A (p.Ser93=) rs373072919 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277 0.00004
NM_153717.3(EVC):c.906G>A (p.Lys302=) rs368231289 0.00004
NM_147127.5(EVC2):c.1887-6A>G rs772186122 0.00003
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998 0.00003
NM_147127.5(EVC2):c.2501+20G>A rs371570790 0.00003
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013 0.00003
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.2994G>A (p.Glu998=) rs769447158 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.3272+16C>T rs200378678 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 0.00003
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.3660-10A>G rs371900491 0.00003
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538 0.00003
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.888C>T (p.Gly296=) rs370515818 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_147127.5(EVC2):c.93C>T (p.Leu31=) rs1217842109 0.00003
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.1206C>T (p.His402=) rs756589627 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1377G>A (p.Thr459=) rs138725840 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1563+11T>A rs1014470434 0.00003
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys) rs771560788 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.1798C>T (p.Leu600=) rs750023994 0.00003
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.231G>A (p.Ser77=) rs140615894 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.2529C>T (p.Gly843=) rs377066936 0.00003
NM_153717.3(EVC):c.2535T>C (p.His845=) rs773156946 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_153717.3(EVC):c.461A>G (p.Glu154Gly) rs1386247667 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile) rs769447796 0.00002
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln) rs770644264 0.00002
NM_147127.5(EVC2):c.1503C>G (p.Thr501=) rs369530549 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.1608A>G (p.Glu536=) rs201898124 0.00002
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612 0.00002
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2046+20A>C rs777490147 0.00002
NM_147127.5(EVC2):c.2073G>A (p.Ala691=) rs765197478 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2337G>A (p.Glu779=) rs985968905 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2439C>T (p.Asp813=) rs370538823 0.00002
NM_147127.5(EVC2):c.2502-19T>C rs564320592 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.2637A>G (p.Gln879=) rs749805702 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_147127.5(EVC2):c.2949G>A (p.Ser983=) rs755297128 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_147127.5(EVC2):c.3057+13G>A rs770915834 0.00002
NM_147127.5(EVC2):c.3058-5T>C rs765936867 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=) rs778954685 0.00002
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=) rs779715707 0.00002
NM_147127.5(EVC2):c.3360+9G>A rs747744305 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile) rs751725959 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=) rs966509995 0.00002
NM_147127.5(EVC2):c.522G>A (p.Val174=) rs140251602 0.00002
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser) rs753207027 0.00002
NM_147127.5(EVC2):c.753A>G (p.Gly251=) rs369737795 0.00002
NM_147127.5(EVC2):c.792A>G (p.Gln264=) rs1014985062 0.00002
NM_147127.5(EVC2):c.869C>T (p.Thr290Met) rs149414427 0.00002
NM_147127.5(EVC2):c.924C>T (p.Leu308=) rs140800339 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.114C>G (p.Leu38=) rs1167442380 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_153717.3(EVC):c.1389G>A (p.Thr463=) rs765596595 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.1539C>T (p.Thr513=) rs549251750 0.00002
NM_153717.3(EVC):c.1581C>T (p.Thr527=) rs748792939 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 0.00002
NM_153717.3(EVC):c.187C>G (p.Gln63Glu) rs371329240 0.00002
NM_153717.3(EVC):c.188A>G (p.Gln63Arg) rs772017175 0.00002
NM_153717.3(EVC):c.2098-4C>G rs771784128 0.00002
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588 0.00002
NM_153717.3(EVC):c.2331G>A (p.Glu777=) rs749197907 0.00002
NM_153717.3(EVC):c.2334C>T (p.Ser778=) rs754983705 0.00002
NM_153717.3(EVC):c.2449+8A>C rs575130220 0.00002
NM_153717.3(EVC):c.246A>G (p.Pro82=) rs144606687 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_153717.3(EVC):c.2894+9G>C rs776278582 0.00002
NM_153717.3(EVC):c.384+19A>G rs200666993 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.411G>A (p.Pro137=) rs758770136 0.00002
NM_153717.3(EVC):c.474C>T (p.Ser158=) rs751812626 0.00002
NM_153717.3(EVC):c.519C>T (p.Ser173=) rs1287616282 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_153717.3(EVC):c.660C>T (p.Asp220=) rs200294295 0.00002
NM_153717.3(EVC):c.702+8G>A rs757444170 0.00002
NM_153717.3(EVC):c.801+16A>G rs774227453 0.00002
NM_153717.3(EVC):c.801+8T>C rs1388494242 0.00002
NM_147127.5(EVC2):c.1006-12A>G rs1205381388 0.00001
NM_147127.5(EVC2):c.1006-7C>T rs760800233 0.00001
NM_147127.5(EVC2):c.1035C>G (p.Pro345=) rs1719022666 0.00001
NM_147127.5(EVC2):c.1056T>C (p.Asp352=) rs900466909 0.00001
NM_147127.5(EVC2):c.1062G>A (p.Val354=) rs756157217 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.1107T>C (p.Ser369=) rs776250707 0.00001
NM_147127.5(EVC2):c.1134A>G (p.Gln378=) rs756310412 0.00001
NM_147127.5(EVC2):c.1146-9G>T rs774847750 0.00001
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu) rs1468421367 0.00001
NM_147127.5(EVC2):c.1245C>G (p.Thr415=) rs747208576 0.00001
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) rs1369020144 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1380G>C (p.Leu460=) rs1438407396 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1392G>A (p.Lys464=) rs1362654881 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1440A>G (p.Ala480=) rs779955202 0.00001
NM_147127.5(EVC2):c.1455A>G (p.Lys485=) rs1371814417 0.00001
NM_147127.5(EVC2):c.1476T>C (p.Ala492=) rs141479252 0.00001
NM_147127.5(EVC2):c.1485C>T (p.Cys495=) rs911180448 0.00001
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile) rs1209098952 0.00001
NM_147127.5(EVC2):c.1542C>T (p.Leu514=) rs376252506 0.00001
NM_147127.5(EVC2):c.1545T>A (p.Ala515=) rs1716570565 0.00001
NM_147127.5(EVC2):c.1584G>A (p.Gln528=) rs1273439269 0.00001
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789 0.00001
NM_147127.5(EVC2):c.1650C>T (p.Phe550=) rs765432520 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.1710+10C>T rs779023251 0.00001
NM_147127.5(EVC2):c.1711-6T>A rs780082286 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.171G>T (p.Gly57=) rs1722350740 0.00001
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) rs1222356750 0.00001
NM_147127.5(EVC2):c.174C>G (p.Pro58=) rs1317163956 0.00001
NM_147127.5(EVC2):c.180G>C (p.Leu60=) rs746557117 0.00001
NM_147127.5(EVC2):c.1827G>A (p.Val609=) rs758243772 0.00001
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr) rs765933739 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1881C>T (p.His627=) rs1181526421 0.00001
NM_147127.5(EVC2):c.1897C>T (p.Leu633=) rs755775994 0.00001
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407 0.00001
NM_147127.5(EVC2):c.1908C>T (p.Asp636=) rs753259274 0.00001
NM_147127.5(EVC2):c.1923A>G (p.Leu641=) rs1193715900 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.1947C>G (p.Val649=) rs748436461 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.195G>A (p.Gly65=) rs1351285832 0.00001
NM_147127.5(EVC2):c.1974T>C (p.Asn658=) rs146401544 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly) rs754390055 0.00001
NM_147127.5(EVC2):c.2026A>C (p.Arg676=) rs922218808 0.00001
NM_147127.5(EVC2):c.2043A>G (p.Gln681=) rs774467445 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2088C>G (p.Ala696=) rs1460893645 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.2109C>T (p.Ala703=) rs1290218024 0.00001
NM_147127.5(EVC2):c.2169G>A (p.Glu723=) rs1300347009 0.00001
NM_147127.5(EVC2):c.216G>A (p.Glu72=) rs1478999602 0.00001
NM_147127.5(EVC2):c.2172G>T (p.Leu724=) rs546009991 0.00001
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952 0.00001
NM_147127.5(EVC2):c.219C>T (p.Ser73=) rs1423567913 0.00001
NM_147127.5(EVC2):c.2226G>A (p.Ser742=) rs1225003407 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2265G>A (p.Gln755=) rs962222538 0.00001
NM_147127.5(EVC2):c.2274C>T (p.Ala758=) rs1195932614 0.00001
NM_147127.5(EVC2):c.228+10G>T rs1478451043 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.229-7T>G rs763121941 0.00001
NM_147127.5(EVC2):c.2292C>G (p.Leu764=) rs200598574 0.00001
NM_147127.5(EVC2):c.2364C>T (p.Ala788=) rs575617564 0.00001
NM_147127.5(EVC2):c.2376G>A (p.Glu792=) rs752095410 0.00001
NM_147127.5(EVC2):c.2379G>A (p.Gly793=) rs984357172 0.00001
NM_147127.5(EVC2):c.2391C>T (p.Asp797=) rs920334676 0.00001
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) rs1282621867 0.00001
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg) rs577020845 0.00001
NM_147127.5(EVC2):c.2424G>C (p.Gln808His) rs541956407 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) rs1715453232 0.00001
NM_147127.5(EVC2):c.2607C>G (p.Pro869=) rs752513992 0.00001
NM_147127.5(EVC2):c.2649G>A (p.Ala883=) rs751714104 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.2685C>T (p.Ala895=) rs771623926 0.00001
NM_147127.5(EVC2):c.2706+5G>T rs747272944 0.00001
NM_147127.5(EVC2):c.2707-3C>T rs755042717 0.00001
NM_147127.5(EVC2):c.283+18T>G rs894951363 0.00001
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833 0.00001
NM_147127.5(EVC2):c.284-10T>C rs1192584069 0.00001
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu) rs1228531350 0.00001
NM_147127.5(EVC2):c.2925G>A (p.Ala975=) rs760612784 0.00001
NM_147127.5(EVC2):c.2937C>T (p.Thr979=) rs750126669 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe) rs897972159 0.00001
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=) rs751382770 0.00001
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=) rs775309745 0.00001
NM_147127.5(EVC2):c.3057+13G>T rs770915834 0.00001
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=) rs1284265777 0.00001
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=) rs987312090 0.00001
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=) rs777020546 0.00001
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=) rs777724107 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138 0.00001
NM_147127.5(EVC2):c.3219C>T (p.Val1073=) rs776929675 0.00001
NM_147127.5(EVC2):c.3264T>C (p.His1088=) rs756868538 0.00001
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=) rs754317285 0.00001
NM_147127.5(EVC2):c.3273-7A>T rs1382818953 0.00001
NM_147127.5(EVC2):c.3273-8C>T rs756556239 0.00001
NM_147127.5(EVC2):c.327C>G (p.Val109=) rs1721335332 0.00001
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=) rs746688755 0.00001
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=) rs1451776773 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.3361-4G>T rs1378260553 0.00001
NM_147127.5(EVC2):c.3361-5T>C rs374025466 0.00001
NM_147127.5(EVC2):c.3361-7C>G rs772860972 0.00001
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=) rs1461295651 0.00001
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=) rs778492108 0.00001
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=) rs757807439 0.00001
NM_147127.5(EVC2):c.33G>A (p.Thr11=) rs1202476781 0.00001
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867 0.00001
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=) rs1321179195 0.00001
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=) rs1291370512 0.00001
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met) rs775202977 0.00001
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr) rs748514374 0.00001
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs) rs1560126707 0.00001
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=) rs770872108 0.00001
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3557+7G>C rs748684933 0.00001
NM_147127.5(EVC2):c.3557+9C>T rs928653922 0.00001
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His) rs1346353134 0.00001
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn) rs752599166 0.00001
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=) rs754595798 0.00001
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=) rs374425966 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=) rs962774281 0.00001
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=) rs770129558 0.00001
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=) rs767740349 0.00001
NM_147127.5(EVC2):c.372T>C (p.Ala124=) rs753895375 0.00001
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=) rs775355661 0.00001
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=) rs1032044767 0.00001
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258 0.00001
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379 0.00001
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=) rs371771308 0.00001
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro) rs746578489 0.00001
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=) rs953355815 0.00001
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=) rs1277969148 0.00001
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760 0.00001
NM_147127.5(EVC2):c.40C>T (p.Leu14=) rs1722366826 0.00001
NM_147127.5(EVC2):c.411G>A (p.Lys137=) rs762375976 0.00001
NM_147127.5(EVC2):c.429G>A (p.Glu143=) rs754435299 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.45C>T (p.Ala15=) rs1285560156 0.00001
NM_147127.5(EVC2):c.498A>G (p.Val166=) rs369509893 0.00001
NM_147127.5(EVC2):c.520-7G>T rs1177228956 0.00001
NM_147127.5(EVC2):c.534T>C (p.Ser178=) rs1720948331 0.00001
NM_147127.5(EVC2):c.551G>A (p.Arg184His) rs771841841 0.00001
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr) rs754001550 0.00001
NM_147127.5(EVC2):c.591A>G (p.Ser197=) rs1720942772 0.00001
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908 0.00001
NM_147127.5(EVC2):c.612C>T (p.Leu204=) rs1317049169 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.630T>A (p.Ala210=) rs1386228779 0.00001
NM_147127.5(EVC2):c.636C>T (p.Leu212=) rs768639624 0.00001
NM_147127.5(EVC2):c.639C>T (p.Thr213=) rs1323570343 0.00001
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter) rs1720937470 0.00001
NM_147127.5(EVC2):c.681G>A (p.Gln227=) rs997848448 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.707-5C>T rs781300676 0.00001
NM_147127.5(EVC2):c.707-8C>G rs746187089 0.00001
NM_147127.5(EVC2):c.741G>A (p.Thr247=) rs772821703 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303 0.00001
NM_147127.5(EVC2):c.78G>A (p.Gly26=) rs1472845952 0.00001
NM_147127.5(EVC2):c.798C>G (p.Thr266=) rs1217997624 0.00001
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) rs942590430 0.00001
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg) rs771493745 0.00001
NM_147127.5(EVC2):c.855A>G (p.Ala285=) rs1277622681 0.00001
NM_147127.5(EVC2):c.870+9C>T rs749270873 0.00001
NM_147127.5(EVC2):c.871-5C>T rs745871266 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_147127.5(EVC2):c.900A>G (p.Ala300=) rs1049760300 0.00001
NM_147127.5(EVC2):c.918C>T (p.Phe306=) rs1382381005 0.00001
NM_147127.5(EVC2):c.921C>T (p.Leu307=) rs1243167455 0.00001
NM_147127.5(EVC2):c.9C>T (p.Pro3=) rs573858756 0.00001
NM_153717.3(EVC):c.100C>T (p.Leu34=) rs1577297567 0.00001
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter) rs1729663828 0.00001
NM_153717.3(EVC):c.1089G>T (p.Leu363=) rs773566770 0.00001
NM_153717.3(EVC):c.1098+9G>A rs1729682283 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00001
NM_153717.3(EVC):c.1125G>A (p.Arg375=) rs372787652 0.00001
NM_153717.3(EVC):c.1149G>A (p.Glu383=) rs1577439692 0.00001
NM_153717.3(EVC):c.117C>T (p.Gly39=) rs1424931005 0.00001
NM_153717.3(EVC):c.1188G>A (p.Arg396=) rs367659093 0.00001
NM_153717.3(EVC):c.1236G>A (p.Lys412=) rs1730618149 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1283C>T (p.Ala428Val) rs1409088904 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.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.1323C>T (p.Val441=) rs201393812 0.00001
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter) rs753152908 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_153717.3(EVC):c.1461C>T (p.Leu487=) rs1414243707 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1479C>G (p.Val493=) rs751325286 0.00001
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) rs1460597472 0.00001
NM_153717.3(EVC):c.1560C>T (p.Cys520=) rs764798059 0.00001
NM_153717.3(EVC):c.1563+8G>C rs896046510 0.00001
NM_153717.3(EVC):c.1564-7G>A rs201739032 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1647C>T (p.Leu549=) rs756674302 0.00001
NM_153717.3(EVC):c.1650C>T (p.Pro550=) rs1187336928 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1698C>T (p.Ala566=) rs911132556 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1764G>A (p.Glu588=) rs1736003433 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.1777-8G>A rs760016211 0.00001
NM_153717.3(EVC):c.1794T>C (p.Cys598=) rs1162334289 0.00001
NM_153717.3(EVC):c.1806C>T (p.Ser602=) rs749141466 0.00001
NM_153717.3(EVC):c.1836C>T (p.His612=) rs1318231575 0.00001
NM_153717.3(EVC):c.1839G>A (p.Glu613=) rs1419257094 0.00001
NM_153717.3(EVC):c.1845C>A (p.Thr615=) rs1398493743 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1886+10G>A rs1194224970 0.00001
NM_153717.3(EVC):c.1911G>T (p.Gly637=) rs746048526 0.00001
NM_153717.3(EVC):c.1924T>C (p.Leu642=) rs1458268098 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.1989G>C (p.Arg663=) rs1289387183 0.00001
NM_153717.3(EVC):c.2007C>T (p.His669=) rs1309166734 0.00001
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) rs774949132 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2040G>A (p.Leu680=) rs1490178041 0.00001
NM_153717.3(EVC):c.2058G>A (p.Gln686=) rs747533747 0.00001
NM_153717.3(EVC):c.2070G>A (p.Glu690=) rs1288478366 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2088C>T (p.Leu696=) rs761661473 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2098-5C>T rs747808287 0.00001
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.216T>C (p.Asn72=) rs776973612 0.00001
NM_153717.3(EVC):c.2181C>T (p.Ala727=) rs759398050 0.00001
NM_153717.3(EVC):c.2184G>A (p.Glu728=) rs1387569961 0.00001
NM_153717.3(EVC):c.2226C>T (p.Cys742=) rs1174341100 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2250G>A (p.Val750=) rs1577624232 0.00001
NM_153717.3(EVC):c.2304+7A>G rs1714452682 0.00001
NM_153717.3(EVC):c.2313G>A (p.Leu771=) rs756905795 0.00001
NM_153717.3(EVC):c.234A>G (p.Glu78=) rs754706204 0.00001
NM_153717.3(EVC):c.2358C>G (p.Val786=) rs895641001 0.00001
NM_153717.3(EVC):c.2365C>T (p.Leu789=) rs1448746006 0.00001
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629 0.00001
NM_153717.3(EVC):c.2406G>A (p.Glu802=) rs747188003 0.00001
NM_153717.3(EVC):c.2430G>A (p.Gln810=) rs370999882 0.00001
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) rs374752679 0.00001
NM_153717.3(EVC):c.2450-7G>T rs769527486 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2562-5C>G rs747812027 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2625C>T (p.His875=) rs764729655 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser) rs771505230 0.00001
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.2782+9C>T rs768005359 0.00001
NM_153717.3(EVC):c.2783-18T>G rs544186339 0.00001
NM_153717.3(EVC):c.2783-8C>T rs905232607 0.00001
NM_153717.3(EVC):c.2790C>T (p.Pro930=) rs747237758 0.00001
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 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.2949G>A (p.Lys983=) rs760920720 0.00001
NM_153717.3(EVC):c.300+10G>C rs765963247 0.00001
NM_153717.3(EVC):c.301-13C>T rs1478477072 0.00001
NM_153717.3(EVC):c.301-5C>T rs1162511331 0.00001
NM_153717.3(EVC):c.303A>G (p.Glu101=) rs1001609281 0.00001
NM_153717.3(EVC):c.30C>T (p.Ser10=) rs1250304907 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.343C>T (p.Leu115=) rs755273705 0.00001
NM_153717.3(EVC):c.375G>A (p.Gln125=) rs951334006 0.00001
NM_153717.3(EVC):c.384+9C>T rs1726415422 0.00001
NM_153717.3(EVC):c.385-10G>A rs766423757 0.00001
NM_153717.3(EVC):c.385-5C>T rs897738878 0.00001
NM_153717.3(EVC):c.447A>G (p.Pro149=) rs143250379 0.00001
NM_153717.3(EVC):c.450C>T (p.His150=) rs760527698 0.00001
NM_153717.3(EVC):c.456G>A (p.Pro152=) rs776773987 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.525A>G (p.Ser175=) rs369785566 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.582G>A (p.Arg194=) rs200101865 0.00001
NM_153717.3(EVC):c.617+10G>T rs1175798148 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.624C>T (p.Asp208=) rs187457187 0.00001
NM_153717.3(EVC):c.773dup (p.Tyr258Ter) rs748201094 0.00001
NM_153717.3(EVC):c.79C>T (p.Leu27=) rs1723000600 0.00001
NM_153717.3(EVC):c.801+9T>C rs775191328 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.858G>A (p.Ser286=) rs752988350 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.876G>A (p.Glu292=) rs902304992 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NM_153717.3(EVC):c.885C>T (p.Thr295=) rs1481146042 0.00001
NM_153717.3(EVC):c.888G>T (p.Leu296=) rs998975965 0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) rs1560323242 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153717.3(EVC):c.930A>C (p.Leu310=) rs776792609 0.00001
NM_153717.3(EVC):c.940-9A>C rs1241925243 0.00001
NM_153717.3(EVC):c.99G>A (p.Leu33=) rs1723007488 0.00001
NC_000004.11:g.(?_2200251)_(5710240_?)del
NC_000004.11:g.(?_5563146)_(5711294_?)del
NC_000004.11:g.(?_5564565)_(5578191_?)del
NC_000004.11:g.(?_5564565)_(5586587_?)del
NC_000004.11:g.(?_5565510)_(5811251_?)del
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5576402)_(5576509_?)del
NC_000004.11:g.(?_5617139)_(5812774_?)del
NC_000004.11:g.(?_5630276)_(5633769_?)del
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5642221)_(5642585_?)del
NC_000004.11:g.(?_5682977)_(5735172_?)del
NC_000004.11:g.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.11:g.(?_5710003)_(5750043_?)del
NC_000004.11:g.(?_5711924)_(5817031_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5720955)_(5721120_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5749725)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5758099_?)del
NC_000004.11:g.(?_5754553)_(5785501_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000004.11:g.(?_5785269)_(5812774_?)del
NC_000004.11:g.(?_5798739)_(5798969_?)del
NC_000004.11:g.(?_5803667)_(5806578_?)del
NC_000004.11:g.(?_5809918)_(5811348_?)del
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000004.12:g.5719249_5719252del
NC_000004.12:g.5729307del
NM_147127.5(EVC2):c.1005+11C>G
NM_147127.5(EVC2):c.1005+14G>A
NM_147127.5(EVC2):c.1005+15A>C
NM_147127.5(EVC2):c.1005+17G>A
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1005+7C>G rs1453329419
NM_147127.5(EVC2):c.1006-13A>C
NM_147127.5(EVC2):c.1006-15G>A
NM_147127.5(EVC2):c.1006-15G>T rs371325268
NM_147127.5(EVC2):c.1006-16C>T
NM_147127.5(EVC2):c.1006-17C>A
NM_147127.5(EVC2):c.1006-17C>G
NM_147127.5(EVC2):c.1006-5T>C
NM_147127.5(EVC2):c.1006-5dup
NM_147127.5(EVC2):c.1006-6C>A
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn) rs888701582
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.1047C>T (p.Thr349=) rs2108896061
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) rs2151750076
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
NM_147127.5(EVC2):c.1059C>A (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
NM_147127.5(EVC2):c.1086C>T (p.Asp362=) rs1719017773
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
NM_147127.5(EVC2):c.1108del (p.Ser370fs) rs2108895910
NM_147127.5(EVC2):c.1110C>T (p.Ser370=) rs748718225
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
NM_147127.5(EVC2):c.1145+19A>G rs1560206472
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1146-11G>A
NM_147127.5(EVC2):c.1146-11G>T
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1146-18G>T
NM_147127.5(EVC2):c.1146-19T>C
NM_147127.5(EVC2):c.1146-19T>G
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1146-5C>T
NM_147127.5(EVC2):c.1146-9G>C rs774847750
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1161C>G (p.Thr387=) rs1717278166
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1173A>C (p.Ala391=) rs1276908557
NM_147127.5(EVC2):c.1176T>C (p.Asp392=) rs1577195366
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
NM_147127.5(EVC2):c.1230G>A (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1230G>T (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.123C>T (p.Pro41=) rs1722355414
NM_147127.5(EVC2):c.1245C>T (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1254C>T (p.Gly418=) rs2108864185
NM_147127.5(EVC2):c.1257C>T (p.His419=) rs1717268176
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1260C>T (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1309C>T (p.Leu437=) rs1434202396
NM_147127.5(EVC2):c.1311A>C (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
NM_147127.5(EVC2):c.1335G>A (p.Glu445=) rs2108863935
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) rs1717259479
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
NM_147127.5(EVC2):c.1359A>T (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1360T>C (p.Leu454=) rs2108863865
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) rs2108863739
NM_147127.5(EVC2):c.1413G>A (p.Gln471=) rs2108863731
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
NM_147127.5(EVC2):c.144G>A (p.Arg48=) rs2151750018
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.1470+10G>A rs1198809289
NM_147127.5(EVC2):c.1470+11_1470+19del
NM_147127.5(EVC2):c.1470+12C>G
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+1dup rs1717244500
NM_147127.5(EVC2):c.1470+2T>C
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1470+7C>T
NM_147127.5(EVC2):c.1470+8A>G rs761155878
NM_147127.5(EVC2):c.1471-10C>T rs1439878397
NM_147127.5(EVC2):c.1471-12T>G
NM_147127.5(EVC2):c.1471-13T>C
NM_147127.5(EVC2):c.1471-17C>T
NM_147127.5(EVC2):c.1471-20T>C
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1471-4C>G rs947596816
NM_147127.5(EVC2):c.1471-5T>A rs1043283150
NM_147127.5(EVC2):c.1471-5T>C rs1043283150
NM_147127.5(EVC2):c.1471-8C>G rs2108851855
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs) rs2108851802
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1503C>A (p.Thr501=) rs369530549
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
NM_147127.5(EVC2):c.1509T>C (p.His503=) rs771803987
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
NM_147127.5(EVC2):c.150C>T (p.Pro50=) rs1347650453
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) rs2108851695
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs) rs1560180583
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
NM_147127.5(EVC2):c.1578C>T (p.His526=)
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp) rs1329925495
NM_147127.5(EVC2):c.159T>C (p.Ala53=) rs2151749984
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) rs1284395468
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
NM_147127.5(EVC2):c.1614C>T (p.His538=)
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1671G>A (p.Glu557=) rs2108851360
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
NM_147127.5(EVC2):c.1686G>T (p.Leu562=) rs1236419324
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
NM_147127.5(EVC2):c.1689G>A (p.Leu563=) rs2108851319
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
NM_147127.5(EVC2):c.1710+12G>A
NM_147127.5(EVC2):c.1710+14C>T
NM_147127.5(EVC2):c.1710+16C>T
NM_147127.5(EVC2):c.1710+17G>A
NM_147127.5(EVC2):c.1710+17G>T
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1710+7C>T rs2108851268
NM_147127.5(EVC2):c.1710+8A>C
NM_147127.5(EVC2):c.1710+8A>G
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-14T>C
NM_147127.5(EVC2):c.1711-18T>G
NM_147127.5(EVC2):c.1711-19T>A
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1711-9A>C rs1716315517
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
NM_147127.5(EVC2):c.174C>T (p.Pro58=) rs1317163956
NM_147127.5(EVC2):c.1752G>A (p.Lys584=) rs762593768
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs) rs2108847232
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
NM_147127.5(EVC2):c.1767T>C (p.Ser589=) rs2108847209
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
NM_147127.5(EVC2):c.1788A>G (p.Glu596=) rs2108847187
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=) rs1716303868
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
NM_147127.5(EVC2):c.1794G>T (p.Leu598=) rs1577179214
NM_147127.5(EVC2):c.1797C>T (p.Val599=) rs2108847158
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser) rs775815805
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
NM_147127.5(EVC2):c.1812A>G (p.Ser604=) rs781487000
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
NM_147127.5(EVC2):c.1833C>A (p.Gly611=) rs879125910
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1854C>T (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1857G>A (p.Gln619=) rs2108847045
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs) rs2108847014
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln) rs1560177469
NM_147127.5(EVC2):c.1860G>C (p.Leu620=) rs763402206
NM_147127.5(EVC2):c.1866C>T (p.His622=) rs1300374301
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
NM_147127.5(EVC2):c.1878G>A (p.Lys626=) rs1001648119
NM_147127.5(EVC2):c.1886+10A>C rs2108846937
NM_147127.5(EVC2):c.1886+13A>G
NM_147127.5(EVC2):c.1886+16G>A
NM_147127.5(EVC2):c.1886+3A>G rs2108846962
NM_147127.5(EVC2):c.1886+9C>G
NM_147127.5(EVC2):c.1886+9C>T
NM_147127.5(EVC2):c.1887-12C>T
NM_147127.5(EVC2):c.1887-15A>G
NM_147127.5(EVC2):c.1887-16C>T
NM_147127.5(EVC2):c.1887-17A>C
NM_147127.5(EVC2):c.1887-18T>C
NM_147127.5(EVC2):c.1887-19T>G
NM_147127.5(EVC2):c.1887-4C>G rs376809175
NM_147127.5(EVC2):c.1887-4C>T
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
NM_147127.5(EVC2):c.1893G>A (p.Gly631=) rs1363412492
NM_147127.5(EVC2):c.1923A>T (p.Leu641=) rs1193715900
NM_147127.5(EVC2):c.1924T>C (p.Leu642=) rs2108843348
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe) rs2108843340
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1932G>A (p.Arg644=) rs1577175315
NM_147127.5(EVC2):c.1935T>C (p.Ala645=) rs2108843316
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
NM_147127.5(EVC2):c.1941A>G (p.Thr647=) rs2108843302
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
NM_147127.5(EVC2):c.1959G>A (p.Lys653=) rs2108843274
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
NM_147127.5(EVC2):c.1991dup (p.Lys665fs) rs2108843224
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly) rs1722347761
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
NM_147127.5(EVC2):c.2001C>G (p.Leu667=) rs756855227
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
NM_147127.5(EVC2):c.2010del (p.Lys670fs) rs2108843186
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
NM_147127.5(EVC2):c.2019T>C (p.Thr673=) rs2108843154
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2031A>G (p.Arg677=) rs1577175103
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2046+10G>A
NM_147127.5(EVC2):c.2046+13T>C
NM_147127.5(EVC2):c.2046+14del
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2046+7A>G rs769477288
NM_147127.5(EVC2):c.2047-10G>A rs2108839481
NM_147127.5(EVC2):c.2047-17C>G
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2047-4C>G rs2108839468
NM_147127.5(EVC2):c.2047-4C>T
NM_147127.5(EVC2):c.2047-9A>C rs73198154
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.205del (p.Ala69fs) rs1400121444
NM_147127.5(EVC2):c.2067G>A (p.Glu689=) rs201506848
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) rs1715829134
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr) rs1381479998
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn) rs371896802
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2139G>C (p.Leu713=) rs1420713271
NM_147127.5(EVC2):c.213C>A (p.Pro71=) rs956555128
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
NM_147127.5(EVC2):c.2181T>A (p.Arg727=) rs2108839127
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn) rs1715808033
NM_147127.5(EVC2):c.2208C>A (p.Leu736=) rs762567213
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
NM_147127.5(EVC2):c.2217G>T (p.Leu739=) rs2108839042
NM_147127.5(EVC2):c.2220C>A (p.Thr740=) rs1322356357
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2241C>T (p.Ala747=) rs2108838978
NM_147127.5(EVC2):c.2256G>T (p.Arg752=) rs745815880
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.225G>A (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
NM_147127.5(EVC2):c.225G>T (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.2260C>T (p.Leu754=) rs994924513
NM_147127.5(EVC2):c.2262G>C (p.Leu754=) rs1715799265
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg) rs976833828
NM_147127.5(EVC2):c.228+11C>T
NM_147127.5(EVC2):c.228+13C>T
NM_147127.5(EVC2):c.228+14G>A
NM_147127.5(EVC2):c.228+16C>T
NM_147127.5(EVC2):c.228+17C>A
NM_147127.5(EVC2):c.228+18C>G
NM_147127.5(EVC2):c.228+20A>C
NM_147127.5(EVC2):c.228+8G>A rs965425013
NM_147127.5(EVC2):c.228+9G>T
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
NM_147127.5(EVC2):c.229-14C>G
NM_147127.5(EVC2):c.229-18G>C
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
NM_147127.5(EVC2):c.2301G>A (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2301G>C (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser) rs1454769055
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
NM_147127.5(EVC2):c.2319G>A (p.Leu773=) rs775800077
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
NM_147127.5(EVC2):c.2328C>T (p.Ile776=) rs2108838807
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser) rs1272970867
NM_147127.5(EVC2):c.2346G>A (p.Lys782=) rs2108838756
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
NM_147127.5(EVC2):c.2358A>G (p.Ala786=) rs903048338
NM_147127.5(EVC2):c.2359C>A (p.Arg787=) rs776830520
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
NM_147127.5(EVC2):c.2361G>T (p.Arg787=) rs1041638769
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
NM_147127.5(EVC2):c.2373G>T (p.Leu791=) rs762295916
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
NM_147127.5(EVC2):c.237C>G (p.Pro79=) rs1721565602
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala) rs931667385
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2405del (p.Gly802fs) rs2108838579
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
NM_147127.5(EVC2):c.2412G>A (p.Gln804=) rs1715777770
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
NM_147127.5(EVC2):c.2433G>A (p.Lys811=) rs2108838539
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
NM_147127.5(EVC2):c.2451C>G (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
NM_147127.5(EVC2):c.2473C>T (p.Leu825=) rs774185697
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
NM_147127.5(EVC2):c.2481C>T (p.Arg827=) rs1577169762
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
NM_147127.5(EVC2):c.2490C>T (p.His830=) rs944565097
NM_147127.5(EVC2):c.2493G>A (p.Leu831=) rs369796222
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
NM_147127.5(EVC2):c.24G>A (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.24G>T (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.2501+14C>T
NM_147127.5(EVC2):c.2501+15G>A
NM_147127.5(EVC2):c.2501+17G>T rs755613338
NM_147127.5(EVC2):c.2501+19C>T
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.2501+20G>C
NM_147127.5(EVC2):c.2501+7G>A
NM_147127.5(EVC2):c.2502-11C>G
NM_147127.5(EVC2):c.2502-12T>G
NM_147127.5(EVC2):c.2502-18C>G
NM_147127.5(EVC2):c.2502-20G>A
NM_147127.5(EVC2):c.2502-20G>C
NM_147127.5(EVC2):c.2502-7C>T
NM_147127.5(EVC2):c.2505G>A (p.Lys835=) rs527993206
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
NM_147127.5(EVC2):c.2514C>A (p.Ser838=) rs1715456441
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile) rs2108833529
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs) rs2108833500
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) rs2151739558
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
NM_147127.5(EVC2):c.2544G>A (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2544G>C (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2568T>C (p.His856=)
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
NM_147127.5(EVC2):c.258G>A (p.Val86=)
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
NM_147127.5(EVC2):c.2616G>C (p.Arg872=) rs1715442469
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
NM_147127.5(EVC2):c.261A>G (p.Glu87=) rs1721564411
NM_147127.5(EVC2):c.2620C>A (p.Arg874=) rs760382778
NM_147127.5(EVC2):c.2631G>T (p.Leu877=) rs2108833246
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs) rs2108833230
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
NM_147127.5(EVC2):c.2649G>T (p.Ala883=) rs751714104
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
NM_147127.5(EVC2):c.2658A>G (p.Glu886=) rs2108833172
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
NM_147127.5(EVC2):c.2676G>A (p.Leu892=) rs2108833128
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
NM_147127.5(EVC2):c.2682G>A (p.Gln894=) rs772672973
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
NM_147127.5(EVC2):c.2703G>A (p.Leu901=) rs902054124
NM_147127.5(EVC2):c.2706+10A>G
NM_147127.5(EVC2):c.2706+11C>G
NM_147127.5(EVC2):c.2706+13T>A
NM_147127.5(EVC2):c.2706+16C>G
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
NM_147127.5(EVC2):c.2707-11C>T
NM_147127.5(EVC2):c.2707-15C>G rs2108829132
NM_147127.5(EVC2):c.2707-15C>T
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2707-4C>G rs1368840473
NM_147127.5(EVC2):c.2707-6C>T rs2108829097
NM_147127.5(EVC2):c.2707-7_2707-6insA
NM_147127.5(EVC2):c.2707-9C>A rs772234395
NM_147127.5(EVC2):c.2712G>A (p.Gln904=) rs2108829070
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) rs2108829049
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
NM_147127.5(EVC2):c.273T>C (p.Phe91=) rs2151739532
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
NM_147127.5(EVC2):c.2757G>A (p.Glu919=) rs2108828983
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
NM_147127.5(EVC2):c.2775C>A (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2775C>T (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2781C>T (p.Asp927=) rs1193965705
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer) rs765076649
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
NM_147127.5(EVC2):c.27C>G (p.Arg9=) rs2151750187
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
NM_147127.5(EVC2):c.2820G>C (p.Leu940=) rs145709352
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
NM_147127.5(EVC2):c.2829+11C>G
NM_147127.5(EVC2):c.2829+12T>G
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.283+15T>C
NM_147127.5(EVC2):c.283+15del
NM_147127.5(EVC2):c.283+17G>A
NM_147127.5(EVC2):c.2830-10C>T
NM_147127.5(EVC2):c.2830-15C>A
NM_147127.5(EVC2):c.2830-18A>C
NM_147127.5(EVC2):c.2830-19C>T
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2830-5C>G rs1712137643
NM_147127.5(EVC2):c.2830-5C>T
NM_147127.5(EVC2):c.2830-7C>T
NM_147127.5(EVC2):c.2830-8C>T rs548370448
NM_147127.5(EVC2):c.2830-9C>T rs1414864322
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
NM_147127.5(EVC2):c.2838T>C (p.Gly946=) rs764538071
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.284-11T>C
NM_147127.5(EVC2):c.284-14T>C
NM_147127.5(EVC2):c.284-14T>G
NM_147127.5(EVC2):c.284-15GTT[2]
NM_147127.5(EVC2):c.284-16T>C
NM_147127.5(EVC2):c.284-19G>A
NM_147127.5(EVC2):c.284-20G>T
NM_147127.5(EVC2):c.284-5T>C rs994568319
NM_147127.5(EVC2):c.2842T>C (p.Leu948=) rs2108788809
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
NM_147127.5(EVC2):c.2847G>C (p.Leu949=) rs763331726
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
NM_147127.5(EVC2):c.2880G>A (p.Glu960=) rs903682822
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) rs145425340
NM_147127.5(EVC2):c.2898G>T (p.Ser966=) rs150055324
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
NM_147127.5(EVC2):c.2919G>A (p.Gln973=) rs759657816
NM_147127.5(EVC2):c.291A>C (p.Ala97=) rs752850734
NM_147127.5(EVC2):c.2928C>A (p.Ser976=) rs2108788636
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
NM_147127.5(EVC2):c.2937C>A (p.Thr979=) rs750126669
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
NM_147127.5(EVC2):c.2940G>A (p.Glu980=) rs2108788600
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
NM_147127.5(EVC2):c.2943T>C (p.Thr981=) rs2108788584
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2946G>A (p.Leu982=) rs2108788572
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu) rs536732931
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=) rs2108788542
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
NM_147127.5(EVC2):c.2967C>T (p.Leu989=) rs2108788495
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
NM_147127.5(EVC2):c.2980T>C (p.Leu994=) rs2108788479
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=) rs1577118232
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=) rs1577118206
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) rs60809236
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp) rs60809236
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val) rs2108788322
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.3051C>T (p.His1017=) rs2108788303
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
NM_147127.5(EVC2):c.3057+10G>T rs2108788255
NM_147127.5(EVC2):c.3057+11G>A
NM_147127.5(EVC2):c.3057+11G>T
NM_147127.5(EVC2):c.3057+12C>T
NM_147127.5(EVC2):c.3057+14_3057+16del
NM_147127.5(EVC2):c.3057+15T>C
NM_147127.5(EVC2):c.3057+1del rs772639262
NM_147127.5(EVC2):c.3057+9A>C rs774288170
NM_147127.5(EVC2):c.3057+9A>T
NM_147127.5(EVC2):c.3058-17G>A
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3058-20T>C
NM_147127.5(EVC2):c.3058-4G>T rs1490949079
NM_147127.5(EVC2):c.3058-7T>C
NM_147127.5(EVC2):c.3058-9C>T rs1722942659
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=) rs2108778947
NM_147127.5(EVC2):c.306A>G (p.Lys102=) rs2151736755
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=) rs1208477150
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=) rs1429408396
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=) rs2108778905
NM_147127.5(EVC2):c.3099G>A (p.Val1033=) rs2108778897
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
NM_147127.5(EVC2):c.30C>A (p.Pro10=) rs1193570001
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=) rs767047805
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) rs200560762
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
NM_147127.5(EVC2):c.314del (p.Lys105fs)
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=) rs770163191
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=) rs778954685
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
NM_147127.5(EVC2):c.3194del (p.Asp1065fs) rs2108778725
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=) rs2108778699
NM_147127.5(EVC2):c.3210C>G (p.Val1070=) rs1722925677
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=) rs2108778665
NM_147127.5(EVC2):c.3225C>T (p.His1075=) rs2108778650
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=) rs779116122
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=) rs1235779972
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3272+20G>A
NM_147127.5(EVC2):c.3272+20G>T
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.3272+8G>T
NM_147127.5(EVC2):c.3273-19T>C
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3273-6C>T
NM_147127.5(EVC2):c.3273-7A>C
NM_147127.5(EVC2):c.3273-7A>G rs1382818953
NM_147127.5(EVC2):c.3273-7dup rs2108777051
NM_147127.5(EVC2):c.3273-8C>A
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=) rs1462214483
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) rs1722814486
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=) rs1722813978
NM_147127.5(EVC2):c.3360+16C>G
NM_147127.5(EVC2):c.3360+16del
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3361-10T>C rs2108771027
NM_147127.5(EVC2):c.3361-11G>A rs369005788
NM_147127.5(EVC2):c.3361-14G>A
NM_147127.5(EVC2):c.3361-18C>T
NM_147127.5(EVC2):c.3361-20C>T
NM_147127.5(EVC2):c.3361-7C>T rs772860972
NM_147127.5(EVC2):c.3361-8T>A rs1358459718
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=) rs1722461930
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=) rs2108770980
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=) rs752793772
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=) rs1577099807
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=) rs2108770885
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) rs1722452431
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=) rs1722452266
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=) rs2108770821
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=) rs1722451421
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=) rs760612657
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs) rs2108770774
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=) rs767393828
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) rs144511301
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
NM_147127.5(EVC2):c.3546G>C (p.Val1182=) rs2108770634
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=) rs1376155432
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=) rs545528367
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
NM_147127.5(EVC2):c.3557+10G>T
NM_147127.5(EVC2):c.3557+15G>A
NM_147127.5(EVC2):c.3557+15G>C
NM_147127.5(EVC2):c.3557+18G>A
NM_147127.5(EVC2):c.3557+18G>T
NM_147127.5(EVC2):c.3557+20T>C
NM_147127.5(EVC2):c.3557+9C>G
NM_147127.5(EVC2):c.3558-12T>C
NM_147127.5(EVC2):c.3558-19A>G
NM_147127.5(EVC2):c.3558-19A>T
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.3558-4G>A rs746098929
NM_147127.5(EVC2):c.3558-4G>T
NM_147127.5(EVC2):c.3558-6C>G
NM_147127.5(EVC2):c.3558-7C>T rs2108767379
NM_147127.5(EVC2):c.3558-9del rs2108767385
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=) rs1485389885
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr) rs752599166
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=) rs754595798
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=) rs1392499941
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer) rs2108767230
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) rs369739594
NM_147127.5(EVC2):c.3659+10G>T
NM_147127.5(EVC2):c.3659+12C>T
NM_147127.5(EVC2):c.3659+13A>G
NM_147127.5(EVC2):c.3659+14C>G
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
NM_147127.5(EVC2):c.3659+20C>T
NM_147127.5(EVC2):c.3659+3A>C
NM_147127.5(EVC2):c.3659+3A>G
NM_147127.5(EVC2):c.3659+5T>C rs1722200321
NM_147127.5(EVC2):c.3660-12C>A
NM_147127.5(EVC2):c.3660-12C>T
NM_147127.5(EVC2):c.3660-15T>C
NM_147127.5(EVC2):c.3660-18C>G
NM_147127.5(EVC2):c.3660-18C>T
NM_147127.5(EVC2):c.3660-5T>C rs2108765328
NM_147127.5(EVC2):c.3660-6C>T rs1722062295
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=) rs1722060400
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=) rs1157926409
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=) rs150551872
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=) rs375566943
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=) rs2108765239
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) rs769520928
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=) rs1260164978
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
NM_147127.5(EVC2):c.3774A>T (p.Val1258=) rs2108765124
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val) rs894829697
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=) rs2108764998
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=) rs1722042643
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=) rs2108764900
NM_147127.5(EVC2):c.390dup (p.Ile131fs) rs1253403779
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
NM_147127.5(EVC2):c.399C>T (p.Ser133=) rs2151736611
NM_147127.5(EVC2):c.417A>G (p.Leu139=) rs2151736587
NM_147127.5(EVC2):c.420del (p.Phe140fs)
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.450+10_450+14del rs2151736515
NM_147127.5(EVC2):c.450+12G>A
NM_147127.5(EVC2):c.450+15C>A
NM_147127.5(EVC2):c.450+15C>G
NM_147127.5(EVC2):c.450+15C>T
NM_147127.5(EVC2):c.450+16A>G
NM_147127.5(EVC2):c.450+17A>T rs370958428
NM_147127.5(EVC2):c.450+18T>C
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.450+8T>C
NM_147127.5(EVC2):c.450+9T>C rs2151736518
NM_147127.5(EVC2):c.451-13C>T
NM_147127.5(EVC2):c.451-16T>C
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.451-17T>C
NM_147127.5(EVC2):c.451-18T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.451-7dup
NM_147127.5(EVC2):c.451-8T>C rs1721108385
NM_147127.5(EVC2):c.451-9T>C
NM_147127.5(EVC2):c.45C>G (p.Ala15=) rs1285560156
NM_147127.5(EVC2):c.465A>C (p.Ser155=) rs1001393610
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
NM_147127.5(EVC2):c.489A>G (p.Glu163=) rs2151733929
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
NM_147127.5(EVC2):c.498A>T (p.Val166=)
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile) rs2151733915
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
NM_147127.5(EVC2):c.517C>T (p.Leu173=) rs2151733903
NM_147127.5(EVC2):c.519+1G>A
NM_147127.5(EVC2):c.519+20G>A
NM_147127.5(EVC2):c.519+2T>C rs1721102486
NM_147127.5(EVC2):c.519+2T>G
NM_147127.5(EVC2):c.519+7T>G
NM_147127.5(EVC2):c.520-10_520-8del
NM_147127.5(EVC2):c.520-13C>T
NM_147127.5(EVC2):c.520-14T>G
NM_147127.5(EVC2):c.520-18C>T rs2151731962
NM_147127.5(EVC2):c.520-19C>G
NM_147127.5(EVC2):c.520-19C>T
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.520-4C>G
NM_147127.5(EVC2):c.520-4C>T rs764449545
NM_147127.5(EVC2):c.520-5C>T
NM_147127.5(EVC2):c.520-8T>C rs2151731945
NM_147127.5(EVC2):c.520-9C>G
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
NM_147127.5(EVC2):c.531G>T (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
NM_147127.5(EVC2):c.555A>G (p.Ile185Met) rs2151731889
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg) rs1342830628
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.55C>A (p.Leu19Met) rs1722364834
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
NM_147127.5(EVC2):c.594C>A (p.Ala198=) rs1482138140
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser) rs567458437
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
NM_147127.5(EVC2):c.627T>A (p.Ile209=) rs1415784175
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile) rs2151731712
NM_147127.5(EVC2):c.639C>G (p.Thr213=) rs1323570343
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
NM_147127.5(EVC2):c.648C>T (p.Asp216=) rs1720936758
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) rs745404766
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu) rs1720935592
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
NM_147127.5(EVC2):c.666C>T (p.Thr222=) rs372079686
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) rs999964757
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
NM_147127.5(EVC2):c.684T>G (p.Ala228=) rs2151731613
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
NM_147127.5(EVC2):c.6C>T (p.Asp2=) rs939013967
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
NM_147127.5(EVC2):c.706+12G>A
NM_147127.5(EVC2):c.706+14G>A
NM_147127.5(EVC2):c.706+6A>G
NM_147127.5(EVC2):c.707-10C>G
NM_147127.5(EVC2):c.707-10C>T
NM_147127.5(EVC2):c.707-15C>G
NM_147127.5(EVC2):c.707-15C>T
NM_147127.5(EVC2):c.707-17T>G
NM_147127.5(EVC2):c.707-20A>G
NM_147127.5(EVC2):c.707-20A>T
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.707-4G>T rs113806963
NM_147127.5(EVC2):c.707-6G>A rs2151728173
NM_147127.5(EVC2):c.707-7T>G
NM_147127.5(EVC2):c.714T>C (p.Asp238=) rs977594999
NM_147127.5(EVC2):c.717C>A (p.Ala239=) rs2151728147
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
NM_147127.5(EVC2):c.726C>T (p.Val242=)
NM_147127.5(EVC2):c.72G>C (p.Ala24=) rs2151750115
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser) rs530937415
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu) rs1720636458
NM_147127.5(EVC2):c.735A>G (p.Ala245=) rs2151728120
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
NM_147127.5(EVC2):c.777C>T (p.Leu259=) rs754899418
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
NM_147127.5(EVC2):c.789C>T (p.Ala263=) rs2151728052
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) rs2151728030
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.810G>T (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.816+13T>C
NM_147127.5(EVC2):c.816+14T>A
NM_147127.5(EVC2):c.816+19T>C
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.816+8C>G rs2151727996
NM_147127.5(EVC2):c.817-10C>A rs750153523
NM_147127.5(EVC2):c.817-12T>C
NM_147127.5(EVC2):c.817-15T>G
NM_147127.5(EVC2):c.817-17C>T
NM_147127.5(EVC2):c.817-19T>C
NM_147127.5(EVC2):c.817-19_817-18del
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.817-5T>A
NM_147127.5(EVC2):c.817-5T>C rs2151724161
NM_147127.5(EVC2):c.817-6T>G
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) rs2151724149
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
NM_147127.5(EVC2):c.829C>T (p.Leu277=) rs2151724132
NM_147127.5(EVC2):c.831G>A (p.Leu277=) rs376314429
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
NM_147127.5(EVC2):c.850del (p.Thr284fs) rs886044525
NM_147127.5(EVC2):c.852A>C (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys) rs144730069
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
NM_147127.5(EVC2):c.86del (p.Gly29fs)
NM_147127.5(EVC2):c.870+10A>G rs779971622
NM_147127.5(EVC2):c.870+14C>G
NM_147127.5(EVC2):c.870+15A>G
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_147127.5(EVC2):c.870+20C>G
NM_147127.5(EVC2):c.870+7G>A
NM_147127.5(EVC2):c.871-10G>A
NM_147127.5(EVC2):c.871-10G>T rs1474138185
NM_147127.5(EVC2):c.871-19T>A
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.871-4A>G
NM_147127.5(EVC2):c.871-6C>T
NM_147127.5(EVC2):c.871-9T>C
NM_147127.5(EVC2):c.876_892dup (p.His298fs) rs2108900159
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
NM_147127.5(EVC2):c.879G>T (p.Pro293=) rs150699446
NM_147127.5(EVC2):c.87C>T (p.Gly29=) rs2151750094
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
NM_147127.5(EVC2):c.897A>C (p.Ala299=) rs763124334
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
NM_147127.5(EVC2):c.903G>A (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903del (p.Phe302fs) rs1560208675
NM_147127.5(EVC2):c.90T>C (p.Cys30=) rs1722360264
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
NM_147127.5(EVC2):c.927C>G (p.Ser309=) rs2108900060
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
NM_147127.5(EVC2):c.939C>T (p.Thr313=) rs1322685892
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
NM_147127.5(EVC2):c.96C>T (p.Gly32=) rs1722358000
NM_147127.5(EVC2):c.981G>A (p.Lys327=) rs2108899931
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
NM_147127.5(EVC2):c.987C>T (p.Asn329=) rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.1005C>T (p.Ser335=) rs895165309
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
NM_153717.3(EVC):c.102G>C (p.Leu34=)
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
NM_153717.3(EVC):c.1035T>C (p.Thr345=) rs2152045460
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.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs) rs745627738
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile) rs1729670311
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
NM_153717.3(EVC):c.105C>T (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
NM_153717.3(EVC):c.1086del (p.Glu362fs)
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
NM_153717.3(EVC):c.1098+12G>C
NM_153717.3(EVC):c.1098+13G>C
NM_153717.3(EVC):c.1098+16G>A
NM_153717.3(EVC):c.1098+16G>T
NM_153717.3(EVC):c.1098+17C>T
NM_153717.3(EVC):c.1098+18G>T
NM_153717.3(EVC):c.1098+1G>A
NM_153717.3(EVC):c.1098+20G>C
NM_153717.3(EVC):c.1098+20G>T
NM_153717.3(EVC):c.1098+8T>C
NM_153717.3(EVC):c.1099-10C>A rs1465530933
NM_153717.3(EVC):c.1099-14G>A
NM_153717.3(EVC):c.1099-1G>A
NM_153717.3(EVC):c.1099-20C>T
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC rs2152075906
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
NM_153717.3(EVC):c.1099-2A>C
NM_153717.3(EVC):c.1099-4G>A rs2152076013
NM_153717.3(EVC):c.1099-5T>C rs2152076005
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
NM_153717.3(EVC):c.1114del (p.Thr372fs)
NM_153717.3(EVC):c.1116G>A (p.Thr372=) rs781636545
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.1143G>C (p.Val381=) rs2152076257
NM_153717.3(EVC):c.1143G>T (p.Val381=)
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1]) rs1164121689
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1159C>T (p.Leu387=) rs1577439719
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) rs1560340266
NM_153717.3(EVC):c.1176G>A (p.Glu392=) rs752626166
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
NM_153717.3(EVC):c.117C>A (p.Gly39=)
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
NM_153717.3(EVC):c.1197C>T (p.Ala399=) rs2152076403
NM_153717.3(EVC):c.1200C>A (p.Ile400=) rs750816331
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
NM_153717.3(EVC):c.120C>A (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.120C>G (p.Leu40=)
NM_153717.3(EVC):c.120C>T (p.Leu40=)
NM_153717.3(EVC):c.1210C>T (p.Leu404=) rs2152076460
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
NM_153717.3(EVC):c.1218G>C (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1218G>T (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter) rs2152076522
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
NM_153717.3(EVC):c.123C>A (p.Gly41=)
NM_153717.3(EVC):c.1246C>A (p.Arg416=) rs113986714
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs) rs1730623318
NM_153717.3(EVC):c.1261C>T (p.Leu421=) rs775388162
NM_153717.3(EVC):c.1266C>G (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1266C>T (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
NM_153717.3(EVC):c.126C>G (p.Leu42=)
NM_153717.3(EVC):c.126C>T (p.Leu42=)
NM_153717.3(EVC):c.1287C>T (p.Phe429=) rs2152076737
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer) rs2152076745
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1315+11G>C
NM_153717.3(EVC):c.1315+14A>G
NM_153717.3(EVC):c.1315+16_1315+27del
NM_153717.3(EVC):c.1315+8G>T
NM_153717.3(EVC):c.1316-14T>C
NM_153717.3(EVC):c.1316-20G>A
NM_153717.3(EVC):c.1316-20G>T
NM_153717.3(EVC):c.1316-4C>T
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
NM_153717.3(EVC):c.1344C>T (p.Val448=) rs2152081344
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1407A>G (p.Glu469=) rs755691949
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
NM_153717.3(EVC):c.1425T>C (p.Ala475=) rs2152081868
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
NM_153717.3(EVC):c.1437G>A (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1437G>T (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
NM_153717.3(EVC):c.1464+12C>A
NM_153717.3(EVC):c.1464+12C>G rs753296851
NM_153717.3(EVC):c.1464+19C>T
NM_153717.3(EVC):c.1464+7C>G
NM_153717.3(EVC):c.1464+8A>T rs116236414
NM_153717.3(EVC):c.1465-12T>G
NM_153717.3(EVC):c.1465-13G>A
NM_153717.3(EVC):c.1465-15_1465-14del
NM_153717.3(EVC):c.1465-15_1465-14dup
NM_153717.3(EVC):c.1465-18C>T
NM_153717.3(EVC):c.1465-4A>G
NM_153717.3(EVC):c.1465-5C>A
NM_153717.3(EVC):c.1465-7C>T
NM_153717.3(EVC):c.1465-8C>T
NM_153717.3(EVC):c.1465-9T>C
NM_153717.3(EVC):c.1473T>C (p.His491=)
NM_153717.3(EVC):c.1479C>T (p.Val493=)
NM_153717.3(EVC):c.147C>A (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1494del (p.Arg498fs) rs2152094799
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter) rs373088008
NM_153717.3(EVC):c.150G>C (p.Ala50=) rs1257185745
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
NM_153717.3(EVC):c.1524G>A (p.Glu508=) rs2152094941
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.1531A>C (p.Arg511=) rs2152094988
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.155del (p.Arg52fs) rs1439712140
NM_153717.3(EVC):c.1563+10C>T rs2152095141
NM_153717.3(EVC):c.1563+13T>C
NM_153717.3(EVC):c.1563+14G>A
NM_153717.3(EVC):c.1563+15T>G
NM_153717.3(EVC):c.1563+16G>A
NM_153717.3(EVC):c.1563+7G>A
NM_153717.3(EVC):c.1564-10T>G
NM_153717.3(EVC):c.1564-15G>T
NM_153717.3(EVC):c.1564-19C>G
NM_153717.3(EVC):c.1564-7G>C
NM_153717.3(EVC):c.1564-7G>T
NM_153717.3(EVC):c.1564-9C>T rs1361893356
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
NM_153717.3(EVC):c.1572C>T (p.Tyr524=) rs1735952327
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
NM_153717.3(EVC):c.1593C>T (p.Phe531=) rs771775185
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1605G>A (p.Val535=)
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
NM_153717.3(EVC):c.1611C>T (p.Ala537=) rs765193502
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
NM_153717.3(EVC):c.1618del (p.Leu540fs)
NM_153717.3(EVC):c.1623G>A (p.Gln541=) rs2152288778
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
NM_153717.3(EVC):c.1629C>G (p.Leu543=) rs1735963741
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
NM_153717.3(EVC):c.1635C>T (p.Gly545=) rs781699320
NM_153717.3(EVC):c.1641T>C (p.Thr547=) rs2152288859
NM_153717.3(EVC):c.1647C>A (p.Leu549=) rs756674302
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
NM_153717.3(EVC):c.1650C>A (p.Pro550=) rs1187336928
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1652del (p.Pro551fs) rs1312383000
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1662T>C (p.Cys554=) rs2152288989
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1683C>A (p.Val561=)
NM_153717.3(EVC):c.1683C>G (p.Val561=) rs913909906
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter) rs539010490
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1698C>G (p.Ala566=) rs911132556
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1737G>A (p.Gln579=) rs768788576
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
NM_153717.3(EVC):c.174+11C>G
NM_153717.3(EVC):c.174+12G>A
NM_153717.3(EVC):c.174+14G>A
NM_153717.3(EVC):c.174+16_174+30del
NM_153717.3(EVC):c.174+1G>T rs2151768710
NM_153717.3(EVC):c.174+7C>G
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.174+8G>C
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
NM_153717.3(EVC):c.1746C>A (p.Leu582=) rs1029833383
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs) rs2152289369
NM_153717.3(EVC):c.175-19C>G
NM_153717.3(EVC):c.175-19C>T
NM_153717.3(EVC):c.175-20T>C
NM_153717.3(EVC):c.175-9G>C rs753317536
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1776+2T>C
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1776+8C>G rs761163369
NM_153717.3(EVC):c.1776+8C>T
NM_153717.3(EVC):c.1776+9A>G rs2152289531
NM_153717.3(EVC):c.1777-13G>C
NM_153717.3(EVC):c.1777-15C>G
NM_153717.3(EVC):c.1777-17C>G
NM_153717.3(EVC):c.1777-19C>T
NM_153717.3(EVC):c.1777-2A>C
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1777-9C>G
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1779G>A (p.Val593=)
NM_153717.3(EVC):c.1783_1886+40del rs2152326431
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
NM_153717.3(EVC):c.1788G>A (p.Glu596=) rs2152326451
NM_153717.3(EVC):c.1791G>A (p.Glu597=) rs1577599969
NM_153717.3(EVC):c.1800G>C (p.Leu600=) rs1713204688
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522
NM_153717.3(EVC):c.1803C>T (p.Ser601=) rs2152326514
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
NM_153717.3(EVC):c.1818_1821del (p.His607fs) rs2152326544
NM_153717.3(EVC):c.1821C>T (p.His607=) rs779056864
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
NM_153717.3(EVC):c.1851C>T (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
NM_153717.3(EVC):c.1857C>G (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1857C>T (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs) rs2152326770
NM_153717.3(EVC):c.1886+11C>T
NM_153717.3(EVC):c.1886+13C>T
NM_153717.3(EVC):c.1886+16T>C
NM_153717.3(EVC):c.1886+17G>C
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1886+5G>A rs794726665
NM_153717.3(EVC):c.1886+7A>G rs2152326793
NM_153717.3(EVC):c.1887-19T>G
NM_153717.3(EVC):c.1887-2A>T
NM_153717.3(EVC):c.1887-4A>C rs2152340153
NM_153717.3(EVC):c.1887-5C>T
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1890C>T (p.Ser630=) rs2152340181
NM_153717.3(EVC):c.1893G>A (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1893G>T (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro) rs535632933
NM_153717.3(EVC):c.1896G>C (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1900del (p.Val634fs)
NM_153717.3(EVC):c.1905G>T (p.Leu635=) rs777640312
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1917C>T (p.Asp639=) rs1242667817
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
NM_153717.3(EVC):c.1926G>A (p.Leu642=) rs1191617444
NM_153717.3(EVC):c.1935C>T (p.Ala645=) rs1412137397
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
NM_153717.3(EVC):c.195G>T (p.Leu65=)
NM_153717.3(EVC):c.1965C>A (p.Ala655=) rs757251724
NM_153717.3(EVC):c.1966C>T (p.Leu656=) rs2152340488
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
NM_153717.3(EVC):c.1971C>T (p.Ala657=) rs2152340517
NM_153717.3(EVC):c.1971del (p.Thr658fs) rs2152340509
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
NM_153717.3(EVC):c.198C>T (p.Leu66=)
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.1998G>A (p.Gly666=) rs772759204
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2004G>A (p.Lys668=) rs759187395
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
NM_153717.3(EVC):c.2023C>A (p.Arg675=) rs372267517
NM_153717.3(EVC):c.2025G>T (p.Arg675=) rs1714120141
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
NM_153717.3(EVC):c.205T>C (p.Leu69=)
NM_153717.3(EVC):c.2067C>T (p.Asp689=) rs768403488
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
NM_153717.3(EVC):c.2076G>A (p.Gln692=) rs1714131544
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
NM_153717.3(EVC):c.207G>A (p.Leu69=) rs2151841946
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2097+10G>T
NM_153717.3(EVC):c.2097+12A>G rs112766640
NM_153717.3(EVC):c.2097+1G>A
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-13C>G
NM_153717.3(EVC):c.2098-20C>T
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2098-5C>G rs747808287
NM_153717.3(EVC):c.2098-7C>G rs1448028337
NM_153717.3(EVC):c.2098-8C>T rs1560427583
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
NM_153717.3(EVC):c.2110C>T (p.Leu704=) rs1714403171
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
NM_153717.3(EVC):c.213T>C (p.Ser71=)
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs) rs2152345583
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) rs1714412021
NM_153717.3(EVC):c.2152C>A (p.Arg718=) rs778287269
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153717.3(EVC):c.2154G>A (p.Arg718=) rs1714415040
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
NM_153717.3(EVC):c.2155C>T (p.Leu719=) rs1236823435
NM_153717.3(EVC):c.2157G>A (p.Leu719=) rs1024015517
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.2196G>A (p.Val732=)
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
NM_153717.3(EVC):c.219G>T (p.Ala73=)
NM_153717.3(EVC):c.21C>G (p.Ala7=)
NM_153717.3(EVC):c.2208G>A (p.Leu736=) rs2152345788
NM_153717.3(EVC):c.2217C>T (p.His739=) rs2152345808
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
NM_153717.3(EVC):c.222G>A (p.Gln74=)
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
NM_153717.3(EVC):c.2256A>G (p.Ala752=) rs746682279
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
NM_153717.3(EVC):c.225C>A (p.Thr75=)
NM_153717.3(EVC):c.225C>G (p.Thr75=)
NM_153717.3(EVC):c.2262T>C (p.Asn754=) rs1714441484
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
NM_153717.3(EVC):c.2271C>A (p.Thr757=) rs918804667
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.2289C>T (p.Asp763=) rs2152346031
NM_153717.3(EVC):c.228C>G (p.Pro76=)
NM_153717.3(EVC):c.2295T>C (p.Asp765=) rs2152346059
NM_153717.3(EVC):c.2304+10G>C
NM_153717.3(EVC):c.2304+10G>T
NM_153717.3(EVC):c.2304+15_2304+16del
NM_153717.3(EVC):c.2304+19C>T
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2304+8C>G
NM_153717.3(EVC):c.2304+9T>A rs2152346132
NM_153717.3(EVC):c.2305-13T>C
NM_153717.3(EVC):c.2305-15C>T
NM_153717.3(EVC):c.2305-17T>C
NM_153717.3(EVC):c.2305-19C>A
NM_153717.3(EVC):c.2305-19C>T
NM_153717.3(EVC):c.2305-8_2305-7delinsCT rs2152361700
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
NM_153717.3(EVC):c.2311C>T (p.Leu771=) rs763546632
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2328G>C (p.Val776=) rs913233513
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
NM_153717.3(EVC):c.2361C>T (p.Ser787=) rs1412709981
NM_153717.3(EVC):c.2365del (p.Leu789fs)
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2370G>A (p.Val790=)
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
NM_153717.3(EVC):c.2376G>C (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
NM_153717.3(EVC):c.241dup (p.Ser81fs)
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
NM_153717.3(EVC):c.2434C>T (p.Leu812=) rs1161329338
NM_153717.3(EVC):c.243C>G (p.Ser81=)
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>G
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+13C>G
NM_153717.3(EVC):c.2449+13C>T
NM_153717.3(EVC):c.2449+14C>A rs374386522
NM_153717.3(EVC):c.2449+14C>G rs374386522
NM_153717.3(EVC):c.2449+14C>T rs374386522
NM_153717.3(EVC):c.2449+15C>G
NM_153717.3(EVC):c.2449+15_2449+16insA
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C
NM_153717.3(EVC):c.2449+5G>A
NM_153717.3(EVC):c.2449+9C>A
NM_153717.3(EVC):c.2450-16G>A
NM_153717.3(EVC):c.2450-18C>T
NM_153717.3(EVC):c.2450-4C>T rs1273594861
NM_153717.3(EVC):c.2450-7_2450-5dup rs2152375058
NM_153717.3(EVC):c.2450-8T>C rs1715583083
NM_153717.3(EVC):c.2454G>A (p.Glu818=) rs775144960
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2463A>G (p.Glu821=) rs762865760
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
NM_153717.3(EVC):c.2484G>A (p.Lys828=) rs2152375180
NM_153717.3(EVC):c.2487A>G (p.Gln829=) rs1439220731
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter) rs2152375194
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
NM_153717.3(EVC):c.2499C>T (p.Asn833=) rs2152375210
NM_153717.3(EVC):c.24C>T (p.Cys8=)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
NM_153717.3(EVC):c.2520G>C (p.Thr840=) rs187406722
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser) rs1446692986
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2547G>A (p.Gln849=) rs2152375378
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
NM_153717.3(EVC):c.2550G>T (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2553C>T (p.Val851=) rs2152375406
NM_153717.3(EVC):c.2556C>T (p.His852=)
NM_153717.3(EVC):c.2561+10C>A
NM_153717.3(EVC):c.2561+11A>C
NM_153717.3(EVC):c.2561+12A>C
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+13C>A
NM_153717.3(EVC):c.2561+18G>A
NM_153717.3(EVC):c.2561+1dup rs2152375437
NM_153717.3(EVC):c.2561+8C>T
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-18del
NM_153717.3(EVC):c.2562-19C>G
NM_153717.3(EVC):c.2562-20G>T
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2562-4C>T rs60082311
NM_153717.3(EVC):c.2562-5C>A rs747812027
NM_153717.3(EVC):c.2562-6C>T rs1480753304
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
NM_153717.3(EVC):c.2580G>A (p.Lys860=) rs1264987350
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
NM_153717.3(EVC):c.2592C>G (p.Ala864=) rs2152387719
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
NM_153717.3(EVC):c.2607C>T (p.His869=) rs774624157
NM_153717.3(EVC):c.2610G>A (p.Gln870=) rs2152387774
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
NM_153717.3(EVC):c.2619T>A (p.Arg873=) rs1716320466
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
NM_153717.3(EVC):c.2622G>T (p.Leu874=) rs1399378301
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer) rs2152387847
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
NM_153717.3(EVC):c.264A>G (p.Arg88=) rs1176423250
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
NM_153717.3(EVC):c.2664A>G (p.Glu888=) rs1161036004
NM_153717.3(EVC):c.2676G>A (p.Glu892=) rs761201243
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.267_274del (p.Glu89fs) rs2151842413
NM_153717.3(EVC):c.2685A>G (p.Leu895=) rs2152387981
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
NM_153717.3(EVC):c.2688+11C>A
NM_153717.3(EVC):c.2688+11C>T
NM_153717.3(EVC):c.2688+19G>A
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G
NM_153717.3(EVC):c.2688+8_2688+13del rs2152388021
NM_153717.3(EVC):c.2689-11_2689-8del
NM_153717.3(EVC):c.2689-16T>C
NM_153717.3(EVC):c.2689-19C>T
NM_153717.3(EVC):c.2689-20C>A
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter) rs1039706882
NM_153717.3(EVC):c.2705del (p.Phe902fs) rs2152391901
NM_153717.3(EVC):c.2709C>A (p.Ile903=) rs774968451
NM_153717.3(EVC):c.2709C>T (p.Ile903=) rs774968451
NM_153717.3(EVC):c.270G>A (p.Val90=)
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
NM_153717.3(EVC):c.2733A>C (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
NM_153717.3(EVC):c.2739C>G (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2739C>T (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
NM_153717.3(EVC):c.2782+12A>G
NM_153717.3(EVC):c.2782+13T>A rs2152392158
NM_153717.3(EVC):c.2782+15C>T
NM_153717.3(EVC):c.2782+15_2782+18dup
NM_153717.3(EVC):c.2782+19A>T
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.2782+7C>A rs1241416600
NM_153717.3(EVC):c.2782+8A>G rs760124824
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2783-11G>A
NM_153717.3(EVC):c.2783-11del
NM_153717.3(EVC):c.2783-3C>A
NM_153717.3(EVC):c.2783-4A>G
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
NM_153717.3(EVC):c.279G>C (p.Ser93=)
NM_153717.3(EVC):c.27G>A (p.Lys9=)
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
NM_153717.3(EVC):c.2817G>T (p.Leu939=) rs1716697966
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
NM_153717.3(EVC):c.2835C>T (p.Asp945=) rs2152394497
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
NM_153717.3(EVC):c.2842del (p.Val948fs)
NM_153717.3(EVC):c.2844G>T (p.Val948=)
NM_153717.3(EVC):c.2853T>C (p.Asn951=) rs371561252
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
NM_153717.3(EVC):c.2862T>A (p.Leu954=) rs2152394578
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2865C>T (p.Ala955=) rs1333691963
NM_153717.3(EVC):c.286A>T (p.Lys96Ter) rs2151842550
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala) rs2152394644
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2883A>G (p.Ser961=) rs1248488328
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
NM_153717.3(EVC):c.2889A>G (p.Ser963=) rs2152394684
NM_153717.3(EVC):c.288G>A (p.Lys96=) rs1577324357
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
NM_153717.3(EVC):c.2894+11G>T
NM_153717.3(EVC):c.2894+12C>T
NM_153717.3(EVC):c.2894+14C>T
NM_153717.3(EVC):c.2894+15C>T
NM_153717.3(EVC):c.2894+16G>A
NM_153717.3(EVC):c.2894+18A>T
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2894+7C>G rs2152394737
NM_153717.3(EVC):c.2894+8T>C
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-12C>G
NM_153717.3(EVC):c.2895-12_2895-10del
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.2895-16del rs761097524
NM_153717.3(EVC):c.2895-20C>A
NM_153717.3(EVC):c.2895-20C>T
NM_153717.3(EVC):c.2895-8_2895-4del
NM_153717.3(EVC):c.2898C>T (p.Ser966=) rs1716824868
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
NM_153717.3(EVC):c.2916A>G (p.Gln972=) rs1285231247
NM_153717.3(EVC):c.2922T>C (p.Ser974=) rs2152396440
NM_153717.3(EVC):c.2925A>G (p.Glu975=) rs1399872123
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2934C>T (p.Asp978=) rs1241792860
NM_153717.3(EVC):c.2946A>G (p.Ser982=) rs1388651029
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
NM_153717.3(EVC):c.2976G>A (p.Leu992=) rs1577673719
NM_153717.3(EVC):c.2979G>A (p.Ter993=) rs767957964
NM_153717.3(EVC):c.297T>G (p.Val99=)
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.300+14T>G
NM_153717.3(EVC):c.300+17T>G
NM_153717.3(EVC):c.300+19T>C
NM_153717.3(EVC):c.300+1G>T
NM_153717.3(EVC):c.300+20T>C
NM_153717.3(EVC):c.300+24_300+27del
NM_153717.3(EVC):c.300+3A>G
NM_153717.3(EVC):c.300+7T>A
NM_153717.3(EVC):c.301-10dup
NM_153717.3(EVC):c.301-13C>G
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.301-7C>T rs764925850
NM_153717.3(EVC):c.301-9C>G rs1726395310
NM_153717.3(EVC):c.312G>T (p.Pro104=)
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
NM_153717.3(EVC):c.333A>G (p.Thr111=)
NM_153717.3(EVC):c.333A>T (p.Thr111=)
NM_153717.3(EVC):c.338dup (p.Ala114fs) rs2151919221
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.354A>G (p.Lys118=) rs2151919308
NM_153717.3(EVC):c.360C>A (p.Ile120=) rs2151919327
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.369del (p.Asn124fs)
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
NM_153717.3(EVC):c.37_38del (p.Arg13fs) rs1722986802
NM_153717.3(EVC):c.384+10_384+12dup rs2151919610
NM_153717.3(EVC):c.384+10del
NM_153717.3(EVC):c.384+12G>C rs1192867917
NM_153717.3(EVC):c.384+15C>G
NM_153717.3(EVC):c.385-13A>G
NM_153717.3(EVC):c.385-1G>A
NM_153717.3(EVC):c.385-20G>A
NM_153717.3(EVC):c.385-20G>T
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.385-6C>T rs1167563102
NM_153717.3(EVC):c.385-7A>T
NM_153717.3(EVC):c.390G>T (p.Leu130=) rs2151934901
NM_153717.3(EVC):c.393C>G (p.Ala131=)
NM_153717.3(EVC):c.393C>T (p.Ala131=) rs374197757
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.399C>T (p.Gly133=)
NM_153717.3(EVC):c.39G>A (p.Arg13=) rs1479357518
NM_153717.3(EVC):c.402C>T (p.Ser134=)
NM_153717.3(EVC):c.405C>T (p.Ser135=) rs2151934982
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
NM_153717.3(EVC):c.411G>T (p.Pro137=)
NM_153717.3(EVC):c.414T>C (p.Ser138=)
NM_153717.3(EVC):c.417G>T (p.Leu139=)
NM_153717.3(EVC):c.42G>A (p.Leu14=) rs1213156946
NM_153717.3(EVC):c.435G>A (p.Gln145=)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.438T>C (p.Ala146=)
NM_153717.3(EVC):c.438T>G (p.Ala146=) rs200690823
NM_153717.3(EVC):c.441T>G (p.Val147=) rs1192506036
NM_153717.3(EVC):c.456G>C (p.Pro152=)
NM_153717.3(EVC):c.456G>T (p.Pro152=)
NM_153717.3(EVC):c.459A>G (p.Val153=)
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.465C>G (p.Ala155=) rs146706283
NM_153717.3(EVC):c.477C>T (p.Ser159=) rs2151935441
NM_153717.3(EVC):c.478_481del (p.Ser160fs) rs2151935449
NM_153717.3(EVC):c.480T>C (p.Ser160=) rs2151935461
NM_153717.3(EVC):c.489C>T (p.Ser163=)
NM_153717.3(EVC):c.48G>A (p.Leu16=)
NM_153717.3(EVC):c.492G>A (p.Leu164=)
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
NM_153717.3(EVC):c.507G>A (p.Lys169=)
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
NM_153717.3(EVC):c.528C>G (p.Ser176=)
NM_153717.3(EVC):c.528C>T (p.Ser176=) rs532386294
NM_153717.3(EVC):c.528del (p.Ser177fs) rs1381525157
NM_153717.3(EVC):c.531C>T (p.Ser177=) rs542910336
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
NM_153717.3(EVC):c.537C>T (p.His179=)
NM_153717.3(EVC):c.539C>A (p.Ser180Ter) rs762136199
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
NM_153717.3(EVC):c.540G>T (p.Ser180=)
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
NM_153717.3(EVC):c.54G>C (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.54G>T (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.564C>G (p.Leu188=)
NM_153717.3(EVC):c.568dup (p.Arg190fs)
NM_153717.3(EVC):c.56_174+42del
NM_153717.3(EVC):c.573C>G (p.Thr191=)
NM_153717.3(EVC):c.579C>T (p.Leu193=)
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer) rs2151935987
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.594C>T (p.Phe198=) rs1224007808
NM_153717.3(EVC):c.596del (p.Pro199fs)
NM_153717.3(EVC):c.597T>C (p.Pro199=)
NM_153717.3(EVC):c.603G>A (p.Val201=) rs2151936107
NM_153717.3(EVC):c.604C>T (p.Leu202=)
NM_153717.3(EVC):c.609C>T (p.Ala203=) rs2151936137
NM_153717.3(EVC):c.60G>C (p.Ala20=)
NM_153717.3(EVC):c.612C>A (p.Cys204Ter) rs553634958
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
NM_153717.3(EVC):c.617+11C>T
NM_153717.3(EVC):c.617+12G>A
NM_153717.3(EVC):c.617+14G>T
NM_153717.3(EVC):c.617+15C>A
NM_153717.3(EVC):c.617+15C>T
NM_153717.3(EVC):c.617+18T>C
NM_153717.3(EVC):c.617+18T>G
NM_153717.3(EVC):c.617+19G>A
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+20G>T
NM_153717.3(EVC):c.617+2T>A
NM_153717.3(EVC):c.618-13T>A
NM_153717.3(EVC):c.618-14A>C rs767274362
NM_153717.3(EVC):c.618-15C>T
NM_153717.3(EVC):c.618-18T>G
NM_153717.3(EVC):c.618-19T>C
NM_153717.3(EVC):c.618-2A>G
NM_153717.3(EVC):c.618-9A>T rs2151945814
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
NM_153717.3(EVC):c.630C>T (p.Asp210=) rs1339867475
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
NM_153717.3(EVC):c.633G>T (p.Leu211=)
NM_153717.3(EVC):c.635del (p.Cys212fs) rs2151945937
NM_153717.3(EVC):c.636T>C (p.Cys212=) rs2151945944
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
NM_153717.3(EVC):c.642C>T (p.Tyr214=) rs2151945971
NM_153717.3(EVC):c.64C>A (p.Arg22=) rs1267604048
NM_153717.3(EVC):c.651C>T (p.His217=)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.666G>A (p.Leu222=) rs1560299816
NM_153717.3(EVC):c.66G>A (p.Arg22=)
NM_153717.3(EVC):c.66G>C (p.Arg22=)
NM_153717.3(EVC):c.673del (p.Asp225fs) rs2151946081
NM_153717.3(EVC):c.678G>A (p.Thr226=)
NM_153717.3(EVC):c.678G>C (p.Thr226=) rs772621806
NM_153717.3(EVC):c.681A>G (p.Ala227=)
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.698A>C (p.His233Pro)
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.69G>A (p.Pro23=) rs1722996127
NM_153717.3(EVC):c.700A>G (p.Met234Val)
NM_153717.3(EVC):c.702+12T>C
NM_153717.3(EVC):c.702+13G>A
NM_153717.3(EVC):c.702+15T>C
NM_153717.3(EVC):c.702+17G>A
NM_153717.3(EVC):c.702+18C>T
NM_153717.3(EVC):c.702+9A>T rs1415648336
NM_153717.3(EVC):c.703-10T>G rs1231822006
NM_153717.3(EVC):c.703-13T>A
NM_153717.3(EVC):c.703-15C>T
NM_153717.3(EVC):c.703-17T>C
NM_153717.3(EVC):c.703-19T>G
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.703-20C>T
NM_153717.3(EVC):c.703-5_703-4dup
NM_153717.3(EVC):c.703-7G>A rs2152000339
NM_153717.3(EVC):c.703-8G>C
NM_153717.3(EVC):c.708dup (p.Ile237fs)
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.720dup (p.Lys241Ter) rs1553871764
NM_153717.3(EVC):c.721A>T (p.Lys241Ter) rs2152000498
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
NM_153717.3(EVC):c.729C>T (p.Cys243=)
NM_153717.3(EVC):c.72G>C (p.Ala24=)
NM_153717.3(EVC):c.72G>T (p.Ala24=)
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.732C>T (p.Leu244=) rs1035355173
NM_153717.3(EVC):c.734T>A (p.Leu245His)
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
NM_153717.3(EVC):c.747T>A (p.Pro249=)
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.75C>G (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.75C>T (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.765T>C (p.Asp255=) rs2152000814
NM_153717.3(EVC):c.768A>G (p.Glu256=) rs2152000830
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
NM_153717.3(EVC):c.784del (p.Leu262fs) rs1560315890
NM_153717.3(EVC):c.784dup (p.Leu262fs)
NM_153717.3(EVC):c.786T>C (p.Leu262=)
NM_153717.3(EVC):c.788C>G (p.Ser263Ter) rs2152001027
NM_153717.3(EVC):c.792A>G (p.Lys264=) rs2152001052
NM_153717.3(EVC):c.801+12A>G
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.801+14C>A
NM_153717.3(EVC):c.801+16A>T
NM_153717.3(EVC):c.801+16_801+17del
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>C
NM_153717.3(EVC):c.802-12_802-8del rs753304898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-18T>C
NM_153717.3(EVC):c.802-19T>C
NM_153717.3(EVC):c.802-2A>G
NM_153717.3(EVC):c.802-6C>T rs773954366
NM_153717.3(EVC):c.802-9C>A rs1309092985
NM_153717.3(EVC):c.802-9C>T rs1309092985
NM_153717.3(EVC):c.807G>A (p.Leu269=)
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.813A>G (p.Glu271=)
NM_153717.3(EVC):c.81G>T (p.Leu27=) rs2151767494
NM_153717.3(EVC):c.822G>A (p.Lys274=)
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
NM_153717.3(EVC):c.829C>T (p.Gln277Ter) rs1251648799
NM_153717.3(EVC):c.82C>T (p.Leu28=)
NM_153717.3(EVC):c.831G>A (p.Gln277=) rs2152027341
NM_153717.3(EVC):c.834C>T (p.Val278=) rs575589201
NM_153717.3(EVC):c.843A>G (p.Ser281=) rs2152027396
NM_153717.3(EVC):c.846C>T (p.Asn282=)
NM_153717.3(EVC):c.84G>A (p.Leu28=)
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.858G>T (p.Ser286=)
NM_153717.3(EVC):c.861G>A (p.Gly287=)
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
NM_153717.3(EVC):c.870C>T (p.Asp290=)
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
NM_153717.3(EVC):c.873T>A (p.Ser291=) rs1577407384
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
NM_153717.3(EVC):c.87C>G (p.Ala29=)
NM_153717.3(EVC):c.87C>T (p.Ala29=)
NM_153717.3(EVC):c.891T>A (p.Ala297=)
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.903G>A (p.Lys301=) rs2152027698
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs) rs1729197529
NM_153717.3(EVC):c.90C>T (p.Pro30=)
NM_153717.3(EVC):c.90del (p.Ala31fs) rs1196950486
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NM_153717.3(EVC):c.928C>T (p.Leu310=) rs145300726
NM_153717.3(EVC):c.930A>G (p.Leu310=) rs776792609
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
NM_153717.3(EVC):c.936T>C (p.Asp312=) rs1294633111
NM_153717.3(EVC):c.939+10_939+11delinsGT rs2152027986
NM_153717.3(EVC):c.939+11G>A
NM_153717.3(EVC):c.939+13C>A
NM_153717.3(EVC):c.939+16T>A
NM_153717.3(EVC):c.939+16T>C
NM_153717.3(EVC):c.939+17C>T
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.939+20T>A
NM_153717.3(EVC):c.939+9_939+10inv
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.93C>T (p.Ala31=) rs866226288
NM_153717.3(EVC):c.940-14T>C
NM_153717.3(EVC):c.940-150T>G rs576076928
NM_153717.3(EVC):c.940-15G>A
NM_153717.3(EVC):c.940-15G>T
NM_153717.3(EVC):c.940-6T>C rs2152044901
NM_153717.3(EVC):c.940-9A>G rs1241925243
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916
NM_153717.3(EVC):c.945A>G (p.Glu315=) rs1057523442
NM_153717.3(EVC):c.957A>G (p.Lys319=) rs2152045024
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
NM_153717.3(EVC):c.96G>A (p.Val32=) rs2151767783
NM_153717.3(EVC):c.973C>T (p.Gln325Ter) rs1729654379
NM_153717.3(EVC):c.986_987del (p.Val329fs)
NM_153717.3(EVC):c.987G>A (p.Val329=)
NM_153717.3(EVC):c.990C>T (p.Asp330=) rs2152045173
NM_153717.3(EVC):c.999G>A (p.Lys333=) rs1729659333
NM_153717.3(EVC):c.9C>A (p.Arg3=) rs1330946337

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.