ClinVar Miner

List of variants studied for Ellis-van Creveld syndrome

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ClinVar version:
Total variants: 578
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HGVS dbSNP
EVC2, 1-BP DEL, 3660C
EVC2, 5-BP INS, NT198
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His) rs1559369181
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925
NM_147127.5(EVC2):c.*105C>T
NM_147127.5(EVC2):c.*141A>G rs565382969
NM_147127.5(EVC2):c.*207A>G
NM_147127.5(EVC2):c.*384T>A rs2287576
NM_147127.5(EVC2):c.*394A>G rs138063943
NM_147127.5(EVC2):c.*68T>C rs886059470
NM_147127.5(EVC2):c.*90C>T rs115810595
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.-29C>A
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1079T>A (p.Leu360His)
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del) rs1553846622
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs) rs1553840713
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn) rs1553840668
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp) rs1553840593
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln) rs774976776
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del) rs1553855096
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1471-7T>C rs150842594
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser) rs886059491
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu)
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1711-20_1711-19dup rs35103377
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620
NM_147127.5(EVC2):c.1886+11A>G rs61218140
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.202_206GGGGC[4] (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2047-9A>T rs73198154
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469
NM_147127.5(EVC2):c.2130_2132GAG[1] (p.Arg711del) rs1553833065
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val)
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.5(EVC2):c.229-1G>T rs1214848359
NM_147127.5(EVC2):c.229-2A>G rs769799880
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del) rs1553832710
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val)
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
NM_147127.5(EVC2):c.2706+13T>C rs200000369
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2707-5T>C rs186058156
NM_147127.5(EVC2):c.2707-9C>G
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys) rs761946397
NM_147127.5(EVC2):c.2829+9A>C rs370232376
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)
NM_147127.5(EVC2):c.284-10T>G
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988
NM_147127.5(EVC2):c.2962_2964CTC[1] (p.Leu989del) rs775393091
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val) rs548381022
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu) rs886059493
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3115_3117CAG[3] (p.Gln1042del) rs774915706
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro)
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) rs750108569
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr)
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.3272+7C>T rs201048030
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu)
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe)
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del) rs1553813318
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3599_3601GAG[1] (p.Gly1201del) rs1227016096
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg)
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr)
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890
NM_147127.5(EVC2):c.3863del (p.Pro1288fs) rs1553811729
NM_147127.5(EVC2):c.3876_3878GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val)
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys)
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.451-15T>C
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.519+15G>A rs17688121
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp) rs1560228138
NM_147127.5(EVC2):c.597C>T (p.Asn199=)
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753
NM_147127.5(EVC2):c.706+13C>T
NM_147127.5(EVC2):c.707-2A>G rs1302074641
NM_147127.5(EVC2):c.707-4G>A rs113806963
NM_147127.5(EVC2):c.707T>C (p.Val236Ala) rs764307512
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly)
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly)
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780
NM_147127.5(EVC2):c.889C>G (p.Leu297Val) rs886059492
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg) rs1467471693
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del) rs1553855115
NM_153717.3(EVC):c.*1008G>A
NM_153717.3(EVC):c.*1019A>C
NM_153717.3(EVC):c.*104G>A rs753484436
NM_153717.3(EVC):c.*1060A>C rs71599848
NM_153717.3(EVC):c.*1069A>G rs13147953
NM_153717.3(EVC):c.*1071G>C
NM_153717.3(EVC):c.*1073C>T
NM_153717.3(EVC):c.*1083T>G rs71599850
NM_153717.3(EVC):c.*1112T>C
NM_153717.3(EVC):c.*1123A>G
NM_153717.3(EVC):c.*1136T>C
NM_153717.3(EVC):c.*1150A>G
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1185A>G rs113728951
NM_153717.3(EVC):c.*1199G>A
NM_153717.3(EVC):c.*1218C>T rs12501119
NM_153717.3(EVC):c.*1243A>G
NM_153717.3(EVC):c.*1248T>G rs559890176
NM_153717.3(EVC):c.*1256C>T
NM_153717.3(EVC):c.*1257G>T
NM_153717.3(EVC):c.*1277A>C
NM_153717.3(EVC):c.*1288T>C
NM_153717.3(EVC):c.*1313C>T
NM_153717.3(EVC):c.*1314G>A
NM_153717.3(EVC):c.*1318G>C rs67547790
NM_153717.3(EVC):c.*1338C>T
NM_153717.3(EVC):c.*1369G>A
NM_153717.3(EVC):c.*1374G>C rs549720489
NM_153717.3(EVC):c.*1375A>G rs114994758
NM_153717.3(EVC):c.*1394T>C
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1403C>T rs547015924
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*1446A>G
NM_153717.3(EVC):c.*14G>A rs2291151
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1545T>G
NM_153717.3(EVC):c.*1554A>C
NM_153717.3(EVC):c.*1568C>T rs886059514
NM_153717.3(EVC):c.*1573T>A
NM_153717.3(EVC):c.*1592C>T rs193184679
NM_153717.3(EVC):c.*1599C>T
NM_153717.3(EVC):c.*1648T>C rs371788560
NM_153717.3(EVC):c.*1684A>G rs886059515
NM_153717.3(EVC):c.*1700C>T rs74690944
NM_153717.3(EVC):c.*1766C>T
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.*1849C>G rs75438311
NM_153717.3(EVC):c.*1871C>T rs150764469
NM_153717.3(EVC):c.*1976C>T
NM_153717.3(EVC):c.*1981A>G rs886059516
NM_153717.3(EVC):c.*198G>A rs181401771
NM_153717.3(EVC):c.*2009T>C rs79152885
NM_153717.3(EVC):c.*210C>A rs16837692
NM_153717.3(EVC):c.*2125T>G rs139771274
NM_153717.3(EVC):c.*2126T>G rs191415414
NM_153717.3(EVC):c.*2132A>G rs11939264
NM_153717.3(EVC):c.*2268G>A rs4261923
NM_153717.3(EVC):c.*2277G>C rs28452978
NM_153717.3(EVC):c.*2285C>G rs145479436
NM_153717.3(EVC):c.*2303T>A
NM_153717.3(EVC):c.*2310G>A rs539844915
NM_153717.3(EVC):c.*2321C>T
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2361C>T rs570533057
NM_153717.3(EVC):c.*2417T>C rs6848370
NM_153717.3(EVC):c.*2465C>T rs555611922
NM_153717.3(EVC):c.*2466G>A
NM_153717.3(EVC):c.*2468C>G
NM_153717.3(EVC):c.*2490C>G
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2493A>G rs188345323
NM_153717.3(EVC):c.*254G>A rs557237233
NM_153717.3(EVC):c.*2569C>T
NM_153717.3(EVC):c.*2593C>T
NM_153717.3(EVC):c.*2617G>A rs3733186
NM_153717.3(EVC):c.*263T>C rs575488876
NM_153717.3(EVC):c.*2680G>A rs3733187
NM_153717.3(EVC):c.*2686G>A rs545215581
NM_153717.3(EVC):c.*2692G>A
NM_153717.3(EVC):c.*2692G>T
NM_153717.3(EVC):c.*2708G>A rs79112570
NM_153717.3(EVC):c.*2713C>T rs3733188
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*2808C>T
NM_153717.3(EVC):c.*2847G>A
NM_153717.3(EVC):c.*2871C>T rs3733189
NM_153717.3(EVC):c.*2922A>C rs886059518
NM_153717.3(EVC):c.*302G>A rs560005309
NM_153717.3(EVC):c.*3046G>C
NM_153717.3(EVC):c.*3118C>G
NM_153717.3(EVC):c.*3121C>G
NM_153717.3(EVC):c.*3161A>C rs550678702
NM_153717.3(EVC):c.*3165T>C rs3755847
NM_153717.3(EVC):c.*3170T>C rs886059519
NM_153717.3(EVC):c.*355C>G
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*3T>G
NM_153717.3(EVC):c.*491C>T
NM_153717.3(EVC):c.*492G>A rs530991301
NM_153717.3(EVC):c.*53T>C rs7676531
NM_153717.3(EVC):c.*542C>T
NM_153717.3(EVC):c.*582C>A
NM_153717.3(EVC):c.*615C>T rs73079505
NM_153717.3(EVC):c.*619C>G
NM_153717.3(EVC):c.*662G>A rs866110948
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*709T>C
NM_153717.3(EVC):c.*748T>C rs62297707
NM_153717.3(EVC):c.*798T>G
NM_153717.3(EVC):c.*820C>T rs137860758
NM_153717.3(EVC):c.*844C>G
NM_153717.3(EVC):c.*858G>A
NM_153717.3(EVC):c.*869A>G rs79612644
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*907C>T rs71599839
NM_153717.3(EVC):c.*908G>A rs13119698
NM_153717.3(EVC):c.*922G>A rs71599840
NM_153717.3(EVC):c.*931T>C rs6840435
NM_153717.3(EVC):c.*956C>G
NM_153717.3(EVC):c.*967T>G
NM_153717.3(EVC):c.*971C>G
NM_153717.3(EVC):c.*994C>T
NM_153717.3(EVC):c.*995T>A
NM_153717.3(EVC):c.-138_-137GA[1] rs886059494
NM_153717.3(EVC):c.-139G>A rs779841092
NM_153717.3(EVC):c.-163G>A
NM_153717.3(EVC):c.-20C>A
NM_153717.3(EVC):c.-35C>A rs546318095
NM_153717.3(EVC):c.-36G>A rs577263762
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln)
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920
NM_153717.3(EVC):c.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.114_119CGGCCT[4] (p.39_40GL[4]) rs1164121689
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763
NM_153717.3(EVC):c.1252_1254del (p.Lys418del) rs1553875708
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1269_1271GCA[2] (p.Gln425del) rs1553875724
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4]) rs1553857987
NM_153717.3(EVC):c.1286_1288del (p.Phe429del) rs1553875733
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1464+8A>G rs116236414
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1465-5C>T
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.147C>T (p.Arg49=)
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.1564-2A>G rs1553886849
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile)
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.175-9G>A rs753317536
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
NM_153717.3(EVC):c.1777-1G>A rs1262933856
NM_153717.3(EVC):c.1777-2A>G rs909612975
NM_153717.3(EVC):c.1786_1788GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1886+5G>T rs794726665
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly)
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu)
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2098-1G>A rs773019082
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2114_2116AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu)
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2305-8T>C rs1031919
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.3(EVC):c.2376del (p.Tyr793fs) rs1577638781
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile)
NM_153717.3(EVC):c.2449+12C>G rs751678723
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2450-1G>A
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2522C>T (p.Ala841Val)
NM_153717.3(EVC):c.2561+12_2561+23del rs1199616057
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC rs1553895769
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816
NM_153717.3(EVC):c.2782+15C>G
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.2827_2828AG[1] (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2842dup (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200
NM_153717.3(EVC):c.40_42CTG[2] (p.Leu16del) rs1553857864
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470
NM_153717.3(EVC):c.581G>A (p.Arg194Gln)
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.702+1G>A rs1553867138
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup) rs1553857901
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_153717.3(EVC):c.740_742TTC[1] (p.Leu248del) rs1278946084
NM_153717.3(EVC):c.751_753AAG[1] (p.Lys252del) rs1232712590
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.758C>G (p.Ser253Ter) rs762795511
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.801dup (p.Asp268fs) rs777852863
NM_153717.3(EVC):c.802-12C>T rs61514191
NM_153717.3(EVC):c.802-15C>T rs4689313
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883
NM_153717.3(EVC):c.83T>C (p.Leu28Pro)
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.939+10A>G rs2286342
NM_153717.3(EVC):c.939+11G>T rs55955937
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.939+4C>T rs2286343
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup) rs1229967881
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665

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