ClinVar Miner

List of variants in gene EVC2 studied for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Gene type:
ClinVar version:
Total variants: 1493
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
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_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
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_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
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_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
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_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
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_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
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_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.2244C>T (p.Thr748=) rs146588335 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
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.328T>C (p.Phe110Leu) rs150444745 0.00064
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
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_147127.5(EVC2):c.1886+7C>G rs376738238 0.00049
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_147127.5(EVC2):c.229-4T>G rs375534154 0.00043
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
NM_147127.5(EVC2):c.3272+17G>A rs367667945 0.00037
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
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_147127.5(EVC2):c.48G>T (p.Gly16=) rs537265864 0.00033
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_147127.5(EVC2):c.2898G>A (p.Ser966=) rs150055324 0.00024
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala) rs149527560 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_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.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 0.00014
NM_147127.5(EVC2):c.284-17G>A rs201654752 0.00013
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00012
NM_147127.5(EVC2):c.450+17A>G rs370958428 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_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 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_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_147127.5(EVC2):c.1041G>A (p.Pro347=) rs778170817 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_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_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 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.2343C>T (p.Gly781=) rs762082443 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.887G>C (p.Gly296Ala) rs201083070 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_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.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.1887-6A>G rs772186122 0.00003
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 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_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.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_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.11C>T (p.Ser4Leu) rs1468421367 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
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.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5576402)_(5576509_?)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.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
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.114C>T (p.Arg38=)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
NM_147127.5(EVC2):c.123C>T (p.Pro41=) rs1722355414
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
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.144G>A (p.Arg48=) rs2151750018
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

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