ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 413
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HGVS dbSNP
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000004.12:g.5628611_5634201del
NC_000004.12:g.5752871_5756875del
NM_147127.5(EVC2):c.1005+3G>A rs141371552
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920
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.1083C>T (p.Asn361=) rs142231129
NM_147127.5(EVC2):c.1146-5C>G rs746188195
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073
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.1208G>A (p.Ser403Asn) rs202093384
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.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter)
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys)
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
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.1470+3A>T rs370769794
NM_147127.5(EVC2):c.1471-6C>T rs115466792
NM_147127.5(EVC2):c.1471-7T>C rs150842594
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg)
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs)
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.1606G>T (p.Glu536Ter)
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
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.1747A>T (p.Ser583Cys)
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
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.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620
NM_147127.5(EVC2):c.1886+7C>G rs376738238
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544
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.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.2069_2070del (p.Gln690fs)
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448
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.229-4T>G rs375534154
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser)
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
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.2517A>G (p.Ser839=) rs756424912
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
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.2667C>T (p.Phe889=) rs201173415
NM_147127.5(EVC2):c.2707-5T>C rs186058156
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533
NM_147127.5(EVC2):c.2829+9A>C rs370232376
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833
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.2883A>C (p.Gly961=) rs149188988
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485
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.3024G>A (p.Ser1008=) rs372719753
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala)
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.3272+8G>C rs201800139
NM_147127.5(EVC2):c.3273-2del
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs)
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3361-2A>G
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
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.3414G>A (p.Thr1138=) rs768312867
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501
NM_147127.5(EVC2):c.3446_3453CAGCCTCA[3] (p.Gln1154fs)
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs)
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.3558-6C>T rs527866261
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.361G>C (p.Gly121Arg)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_147127.5(EVC2):c.3660-10A>G rs371900491
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.451-1_452del
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.519+2T>C
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter)
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.707-4G>A rs113806963
NM_147127.5(EVC2):c.707-5C>T rs781300676
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
NM_147127.5(EVC2):c.824_825CA[1] (p.Gln276fs)
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg)
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070
NM_147127.5(EVC2):c.894C>T (p.His298=) rs143027693
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.948C>T (p.Ala316=) rs376050796
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1315+8G>A rs550411377
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959
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.1350G>A (p.Ala450=) rs752575646
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1387dup (p.Thr463fs)
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801
NM_153717.3(EVC):c.1464+5C>T rs369734950
NM_153717.3(EVC):c.1464+8A>G rs116236414
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773
NM_153717.3(EVC):c.153_174+42del
NM_153717.3(EVC):c.155del (p.Arg52fs)
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1564-7G>A rs201739032
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.175-10C>T rs113406354
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-1G>A rs1262933856
NM_153717.3(EVC):c.1777-2A>G rs909612975
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1777-8G>A rs760016211
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1886+1G>C
NM_153717.3(EVC):c.1886+2T>G
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358
NM_153717.3(EVC):c.2098-10T>C rs774109576
NM_153717.3(EVC):c.2098-2A>G
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588
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.2305-6C>T rs781705295
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2335G>A (p.Val779Ile)
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
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.2376G>A (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2562-2A>G rs1293098417
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_153717.3(EVC):c.2782+9C>T rs768005359
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.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.2894+3A>G rs1424976594
NM_153717.3(EVC):c.2895-4T>C rs775049818
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424
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.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
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.510C>T (p.Asp170=) rs757930422
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.617+1G>A
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>C
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448
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.901_903AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.939+1G>A
NM_153717.3(EVC):c.939+9C>T rs201282320
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502

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