NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_153717.3(EVC):c.2305-8T>C
|
rs1031919
|
0.72106
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
NM_153717.3(EVC):c.2894+18A>G
|
rs2279250
|
0.71871
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60798
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala)
|
rs730469
|
0.45556
|
NM_153717.3(EVC):c.969T>C (p.Asn323=)
|
rs4688963
|
0.40746
|
NM_153717.3(EVC):c.1099-19T>C
|
rs899691
|
0.37351
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
NM_147127.5(EVC2):c.3507C>T (p.His1169=)
|
rs12511039
|
0.28547
|
NM_147127.5(EVC2):c.1437A>G (p.Glu479=)
|
rs13131655
|
0.27893
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly)
|
rs4689278
|
0.21710
|
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
|
rs6820907
|
0.17921
|
NM_147127.5(EVC2):c.2061T>C (p.Arg687=)
|
rs73198153
|
0.11242
|
NM_147127.5(EVC2):c.519+15G>A
|
rs17688121
|
0.11080
|
NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
NM_147127.5(EVC2):c.2235A>G (p.Glu745=)
|
rs60121553
|
0.08440
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
NM_147127.5(EVC2):c.1711-20T>G
|
rs58869180
|
0.07408
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_147127.5(EVC2):c.2046+5A>G
|
rs6850875
|
0.06860
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
NM_153717.3(EVC):c.341C>T (p.Ala114Val)
|
rs16837598
|
0.05943
|
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=)
|
rs112554914
|
0.05240
|
NM_153717.3(EVC):c.1096C>T (p.Leu366=)
|
rs6854138
|
0.03243
|
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu)
|
rs60809236
|
0.03040
|
NM_153717.3(EVC):c.939+11G>T
|
rs55955937
|
0.02788
|
NM_147127.5(EVC2):c.1059C>T (p.Gly353=)
|
rs77793386
|
0.02666
|
NM_147127.5(EVC2):c.3557+10G>A
|
rs116218656
|
0.02138
|
NM_147127.5(EVC2):c.3660-18C>A
|
rs6853237
|
0.01859
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala)
|
rs73063795
|
0.01215
|
NM_153717.3(EVC):c.1464+8A>G
|
rs116236414
|
0.01163
|
NM_153717.3(EVC):c.2373G>A (p.Gln791=)
|
rs73795089
|
0.01161
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
NM_153717.3(EVC):c.385-16C>T
|
rs113571700
|
0.00995
|
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)
|
rs35287723
|
0.00977
|
NM_153717.3(EVC):c.2505G>A (p.Ser835=)
|
rs115976359
|
0.00969
|
NM_147127.5(EVC2):c.1311A>G (p.Leu437=)
|
rs77131452
|
0.00904
|
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg)
|
rs114024753
|
0.00863
|
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg)
|
rs73074138
|
0.00851
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala)
|
rs138972736
|
0.00672
|
NM_147127.5(EVC2):c.2707-5T>C
|
rs186058156
|
0.00650
|
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr)
|
rs113869406
|
0.00570
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp)
|
rs114142742
|
0.00521
|
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp)
|
rs116502852
|
0.00513
|
NM_147127.5(EVC2):c.1845C>T (p.Thr615=)
|
rs112747818
|
0.00512
|
NM_147127.5(EVC2):c.675A>G (p.Gly225=)
|
rs74930168
|
0.00463
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_147127.5(EVC2):c.307T>C (p.Leu103=)
|
rs140877783
|
0.00416
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=)
|
rs76523157
|
0.00388
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=)
|
rs116076068
|
0.00366
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_147127.5(EVC2):c.2029C>A (p.Arg677=)
|
rs73198165
|
0.00341
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val)
|
rs144670544
|
0.00294
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
NM_147127.5(EVC2):c.2151C>T (p.His717=)
|
rs144584049
|
0.00220
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)
|
rs149344570
|
0.00177
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_147127.5(EVC2):c.2487G>A (p.Glu829=)
|
rs16837501
|
0.00165
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
0.00150
|
NM_147127.5(EVC2):c.2394G>A (p.Arg798=)
|
rs147173201
|
0.00149
|
NM_147127.5(EVC2):c.2395G>C (p.Asp799His)
|
rs143491078
|
0.00149
|
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=)
|
rs144532809
|
0.00146
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_153717.3(EVC):c.1464+5C>T
|
rs369734950
|
0.00120
|
NM_147127.5(EVC2):c.2707-13A>T
|
rs146588799
|
0.00105
|
NM_147127.5(EVC2):c.707-18G>A
|
rs144093697
|
0.00097
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
NM_147127.5(EVC2):c.3272+7C>T
|
rs201048030
|
0.00090
|
NM_153717.3(EVC):c.1612C>G (p.Leu538Val)
|
rs147772724
|
0.00085
|
NM_153717.3(EVC):c.2562-3C>T
|
rs375960614
|
0.00084
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_147127.5(EVC2):c.1005+3G>A
|
rs141371552
|
0.00082
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
NM_153717.3(EVC):c.802-15_802-12del
|
rs386671011
|
0.00069
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_153717.3(EVC):c.2449+12C>G
|
rs751678723
|
0.00066
|
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu)
|
rs150444745
|
0.00064
|
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn)
|
rs200609501
|
0.00060
|
NM_147127.5(EVC2):c.1287T>C (p.Ser429=)
|
rs148775651
|
0.00059
|
NM_153717.3(EVC):c.1128G>A (p.Ala376=)
|
rs111234281
|
0.00055
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_147127.5(EVC2):c.2178G>A (p.Glu726=)
|
rs147015327
|
0.00051
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
NM_147127.5(EVC2):c.1886+7C>G
|
rs376738238
|
0.00049
|
NM_153717.3(EVC):c.175-18C>G
|
rs114621329
|
0.00047
|
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
|
rs137884710
|
0.00046
|
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg)
|
rs145909403
|
0.00046
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
NM_153717.3(EVC):c.1653G>A (p.Pro551=)
|
rs151293705
|
0.00044
|
NM_147127.5(EVC2):c.229-4T>G
|
rs375534154
|
0.00043
|
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=)
|
rs201460514
|
0.00042
|
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)
|
rs141896077
|
0.00042
|
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)
|
rs139481521
|
0.00041
|
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=)
|
rs138902279
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_147127.5(EVC2):c.3272+17G>A
|
rs367667945
|
0.00037
|
NM_153717.3(EVC):c.2782+15C>G
|
rs373862588
|
0.00037
|
NM_153717.3(EVC):c.2805G>A (p.Arg935=)
|
rs143631233
|
0.00037
|
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
|
rs202150959
|
0.00036
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys)
|
rs369531662
|
0.00035
|
NM_147127.5(EVC2):c.1470+20A>G
|
rs375025494
|
0.00034
|
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys)
|
rs186197620
|
0.00034
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
NM_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_147127.5(EVC2):c.48G>T (p.Gly16=)
|
rs537265864
|
0.00033
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
NM_147127.5(EVC2):c.2304G>C (p.Val768=)
|
rs139936564
|
0.00030
|
NM_153717.3(EVC):c.1928G>A (p.Arg643His)
|
rs144906677
|
0.00029
|
NM_147127.5(EVC2):c.1886+11A>G
|
rs61218140
|
0.00028
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
NM_153717.3(EVC):c.802-12C>T
|
rs61514191
|
0.00027
|
NM_153717.3(EVC):c.1797G>A (p.Ala599=)
|
rs199875230
|
0.00026
|
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)
|
rs201776972
|
0.00025
|
NM_147127.5(EVC2):c.2898G>A (p.Ser966=)
|
rs150055324
|
0.00024
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_153717.3(EVC):c.2519C>T (p.Thr840Met)
|
rs143464806
|
0.00024
|
NM_153717.3(EVC):c.174+16A>G
|
rs1049950431
|
0.00023
|
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala)
|
rs149527560
|
0.00022
|
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met)
|
rs375566943
|
0.00022
|
NM_153717.3(EVC):c.442T>C (p.Leu148=)
|
rs139931919
|
0.00022
|
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
|
rs371698182
|
0.00021
|
NM_147127.5(EVC2):c.894C>T (p.His298=)
|
rs143027693
|
0.00021
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
NM_147127.5(EVC2):c.2958C>T (p.Thr986=)
|
rs567792423
|
0.00019
|
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)
|
rs182298453
|
0.00019
|
NM_153717.3(EVC):c.617+17A>G
|
rs113726930
|
0.00019
|
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp)
|
rs148884226
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr)
|
rs201201603
|
0.00016
|
NM_147127.5(EVC2):c.588G>A (p.Ser196=)
|
rs566778000
|
0.00016
|
NM_147127.5(EVC2):c.615G>A (p.Leu205=)
|
rs140864640
|
0.00016
|
NM_147127.5(EVC2):c.984A>T (p.Gly328=)
|
rs1023236102
|
0.00016
|
NM_153717.3(EVC):c.1536C>T (p.Ala512=)
|
rs368554773
|
0.00016
|
NM_153717.3(EVC):c.702+16C>T
|
rs180960931
|
0.00016
|
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)
|
rs555652075
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=)
|
rs374038474
|
0.00014
|
NM_153717.3(EVC):c.1777G>A (p.Val593Met)
|
rs150535483
|
0.00014
|
NM_153717.3(EVC):c.1818A>C (p.Thr606=)
|
rs202093497
|
0.00014
|
NM_153717.3(EVC):c.2098-10T>C
|
rs774109576
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr)
|
rs748268896
|
0.00014
|
NM_153717.3(EVC):c.702+17G>T
|
rs559719173
|
0.00014
|
NM_153717.3(EVC):c.940-12C>G
|
rs200707006
|
0.00014
|
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn)
|
rs202093384
|
0.00013
|
NM_147127.5(EVC2):c.284-17G>A
|
rs201654752
|
0.00013
|
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)
|
rs370721640
|
0.00013
|
NM_153717.3(EVC):c.175-10C>T
|
rs113406354
|
0.00013
|
NM_153717.3(EVC):c.2449+4C>T
|
rs753679138
|
0.00013
|
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00012
|
NM_147127.5(EVC2):c.450+17A>G
|
rs370958428
|
0.00012
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_153717.3(EVC):c.2583G>A (p.Arg861=)
|
rs145317746
|
0.00012
|
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)
|
rs371876802
|
0.00011
|
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)
|
rs145786485
|
0.00011
|
NM_147127.5(EVC2):c.3858C>T (p.His1286=)
|
rs368103321
|
0.00011
|
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu)
|
rs369153874
|
0.00011
|
NM_153717.3(EVC):c.1707G>C (p.Leu569=)
|
rs575586341
|
0.00011
|
NM_153717.3(EVC):c.2298C>T (p.Asp766=)
|
rs140546984
|
0.00011
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
NM_153717.3(EVC):c.299A>G (p.Asp100Gly)
|
rs1282571678
|
0.00011
|
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_153717.3(EVC):c.540G>A (p.Ser180=)
|
rs200120462
|
0.00011
|
NM_153717.3(EVC):c.690G>A (p.Gln230=)
|
rs563481672
|
0.00011
|
NM_153717.3(EVC):c.77C>T (p.Ala26Val)
|
rs1035520087
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
|
rs201555920
|
0.00010
|
NM_147127.5(EVC2):c.2340C>T (p.His780=)
|
rs150691722
|
0.00010
|
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr)
|
rs145645536
|
0.00010
|
NM_153717.3(EVC):c.677C>T (p.Thr226Met)
|
rs201583621
|
0.00010
|
NM_147127.5(EVC2):c.129C>T (p.Gly43=)
|
rs985034372
|
0.00009
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
NM_147127.5(EVC2):c.2793C>T (p.Leu931=)
|
rs764663533
|
0.00009
|
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
|
rs200105743
|
0.00009
|
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)
|
rs749446584
|
0.00009
|
NM_147127.5(EVC2):c.3558-6C>T
|
rs527866261
|
0.00009
|
NM_147127.5(EVC2):c.765C>T (p.Asn255=)
|
rs139129327
|
0.00009
|
NM_147127.5(EVC2):c.817-17C>A
|
rs371482683
|
0.00009
|
NM_153717.3(EVC):c.1744C>G (p.Leu582Val)
|
rs367863826
|
0.00009
|
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)
|
rs200479973
|
0.00009
|
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)
|
rs142738089
|
0.00009
|
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)
|
rs780968816
|
0.00009
|
NM_153717.3(EVC):c.759A>G (p.Ser253=)
|
rs201105095
|
0.00009
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
NM_147127.5(EVC2):c.1041G>A (p.Pro347=)
|
rs778170817
|
0.00008
|
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys)
|
rs780919705
|
0.00008
|
NM_147127.5(EVC2):c.2250G>A (p.Glu750=)
|
rs552887116
|
0.00008
|
NM_147127.5(EVC2):c.297T>G (p.Leu99=)
|
rs780711879
|
0.00008
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_147127.5(EVC2):c.3558-8G>A
|
rs775806827
|
0.00008
|
NM_147127.5(EVC2):c.520-6C>T
|
rs747479747
|
0.00008
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)
|
rs200743695
|
0.00008
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_153717.3(EVC):c.2102C>T (p.Ala701Val)
|
rs571809727
|
0.00008
|
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)
|
rs752020764
|
0.00008
|
NM_153717.3(EVC):c.2895-4T>C
|
rs775049818
|
0.00008
|
NM_147127.5(EVC2):c.1470+3A>T
|
rs370769794
|
0.00007
|
NM_147127.5(EVC2):c.2202C>T (p.Asp734=)
|
rs199788223
|
0.00007
|
NM_147127.5(EVC2):c.2613C>T (p.Ile871=)
|
rs759358405
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=)
|
rs749901674
|
0.00007
|
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys)
|
rs201877358
|
0.00007
|
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
|
rs540660500
|
0.00007
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys)
|
rs377461598
|
0.00006
|
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala)
|
rs202210260
|
0.00006
|
NM_147127.5(EVC2):c.1677T>C (p.Ala559=)
|
rs761646676
|
0.00006
|
NM_147127.5(EVC2):c.192G>C (p.Pro64=)
|
rs777094897
|
0.00006
|
NM_147127.5(EVC2):c.2079C>T (p.Val693=)
|
rs201171209
|
0.00006
|
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys)
|
rs144270330
|
0.00006
|
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys)
|
rs375693723
|
0.00006
|
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr)
|
rs146837459
|
0.00006
|
NM_147127.5(EVC2):c.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.878C>T (p.Pro293Leu)
|
rs138882677
|
0.00006
|
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)
|
rs201083070
|
0.00006
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
NM_153717.3(EVC):c.1350G>A (p.Ala450=)
|
rs752575646
|
0.00006
|
NM_153717.3(EVC):c.1564-8C>T
|
rs373957181
|
0.00006
|
NM_153717.3(EVC):c.1692C>T (p.Asn564=)
|
rs138242443
|
0.00006
|
NM_153717.3(EVC):c.1807G>A (p.Val603Met)
|
rs886042994
|
0.00006
|
NM_153717.3(EVC):c.1980G>A (p.Thr660=)
|
rs537471996
|
0.00006
|
NM_153717.3(EVC):c.2349C>T (p.Ser783=)
|
rs138114051
|
0.00006
|
NM_153717.3(EVC):c.2550G>A (p.Ala850=)
|
rs754053651
|
0.00006
|
NM_153717.3(EVC):c.2868C>T (p.Ser956=)
|
rs757526901
|
0.00006
|
NM_153717.3(EVC):c.534C>A (p.Val178=)
|
rs774703104
|
0.00006
|
NM_153717.3(EVC):c.588C>T (p.Asn196=)
|
rs756994584
|
0.00006
|
NM_153717.3(EVC):c.940-150T>C
|
rs576076928
|
0.00006
|
NM_147127.5(EVC2):c.126C>T (p.Leu42=)
|
rs781009014
|
0.00005
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)
|
rs760871098
|
0.00005
|
NM_147127.5(EVC2):c.2076C>T (p.Ser692=)
|
rs138556477
|
0.00005
|
NM_147127.5(EVC2):c.209G>T (p.Gly70Val)
|
rs754380041
|
0.00005
|
NM_147127.5(EVC2):c.2157C>T (p.Ala719=)
|
rs777141609
|
0.00005
|
NM_147127.5(EVC2):c.2556G>A (p.Arg852=)
|
rs762781823
|
0.00005
|
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=)
|
rs777897646
|
0.00005
|
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His)
|
rs139577475
|
0.00005
|
NM_147127.5(EVC2):c.669G>A (p.Ser223=)
|
rs143697185
|
0.00005
|
NM_147127.5(EVC2):c.707-20_707-19del
|
rs777343377
|
0.00005
|
NM_147127.5(EVC2):c.948C>T (p.Ala316=)
|
rs376050796
|
0.00005
|
NM_153717.3(EVC):c.107C>G (p.Ala36Gly)
|
rs1219807707
|
0.00005
|
NM_153717.3(EVC):c.1152T>C (p.Phe384=)
|
rs574038265
|
0.00005
|
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
|
rs767013073
|
0.00005
|
NM_153717.3(EVC):c.1962C>T (p.Asn654=)
|
rs189626383
|
0.00005
|
NM_153717.3(EVC):c.2010C>T (p.Leu670=)
|
rs369722491
|
0.00005
|
NM_153717.3(EVC):c.2961G>A (p.Lys987=)
|
rs138808610
|
0.00005
|
NM_153717.3(EVC):c.312G>A (p.Pro104=)
|
rs763930196
|
0.00005
|
NM_153717.3(EVC):c.549C>T (p.Ser183=)
|
rs201071908
|
0.00005
|
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu)
|
rs199708349
|
0.00004
|
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)
|
rs780172151
|
0.00004
|
NM_147127.5(EVC2):c.1146-5C>G
|
rs746188195
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_147127.5(EVC2):c.1530G>A (p.Leu510=)
|
rs750953517
|
0.00004
|
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg)
|
rs369076839
|
0.00004
|
NM_147127.5(EVC2):c.2247C>T (p.Asp749=)
|
rs748420448
|
0.00004
|
NM_147127.5(EVC2):c.229-2A>G
|
rs769799880
|
0.00004
|
NM_147127.5(EVC2):c.2397C>T (p.Asp799=)
|
rs372782913
|
0.00004
|
NM_147127.5(EVC2):c.2517A>G (p.Ser839=)
|
rs756424912
|
0.00004
|
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)
|
rs190540235
|
0.00004
|
NM_147127.5(EVC2):c.2706+13T>C
|
rs200000369
|
0.00004
|
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=)
|
rs372719753
|
0.00004
|
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=)
|
rs182310332
|
0.00004
|
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)
|
rs573448772
|
0.00004
|
NM_147127.5(EVC2):c.3058-4G>A
|
rs1490949079
|
0.00004
|
NM_147127.5(EVC2):c.30C>T (p.Pro10=)
|
rs1193570001
|
0.00004
|
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=)
|
rs770163191
|
0.00004
|
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=)
|
rs756880962
|
0.00004
|
NM_147127.5(EVC2):c.3192G>A (p.Val1064=)
|
rs755786659
|
0.00004
|
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=)
|
rs776832054
|
0.00004
|
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu)
|
rs145071652
|
0.00004
|
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=)
|
rs370368827
|
0.00004
|
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=)
|
rs772566880
|
0.00004
|
NM_147127.5(EVC2):c.576C>G (p.Thr192=)
|
rs764691234
|
0.00004
|
NM_147127.5(EVC2):c.732C>T (p.Tyr244=)
|
rs765159349
|
0.00004
|
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)
|
rs370838180
|
0.00004
|
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser)
|
rs368314615
|
0.00004
|
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)
|
rs150923920
|
0.00004
|
NM_153717.3(EVC):c.1269G>A (p.Thr423=)
|
rs551881521
|
0.00004
|
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp)
|
rs748220728
|
0.00004
|
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)
|
rs777024713
|
0.00004
|
NM_153717.3(EVC):c.1896G>T (p.Arg632=)
|
rs758327867
|
0.00004
|
NM_153717.3(EVC):c.219G>A (p.Ala73=)
|
rs759816860
|
0.00004
|
NM_153717.3(EVC):c.2305-6C>T
|
rs781705295
|
0.00004
|
NM_153717.3(EVC):c.2412C>T (p.His804=)
|
rs553232598
|
0.00004
|
NM_153717.3(EVC):c.279G>A (p.Ser93=)
|
rs373072919
|
0.00004
|
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
|
rs371671127
|
0.00004
|
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
NM_153717.3(EVC):c.867T>G (p.Gly289=)
|
rs758866277
|
0.00004
|
NM_153717.3(EVC):c.906G>A (p.Lys302=)
|
rs368231289
|
0.00004
|
NM_147127.5(EVC2):c.1887-6A>G
|
rs772186122
|
0.00003
|
NM_147127.5(EVC2):c.2160C>G (p.Thr720=)
|
rs749380539
|
0.00003
|
NM_147127.5(EVC2):c.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_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
|
rs756025432
|
0.00003
|
NM_153717.3(EVC):c.1206C>T (p.His402=)
|
rs756589627
|
0.00003
|
NM_153717.3(EVC):c.1349C>T (p.Ala450Val)
|
rs749008952
|
0.00003
|
NM_153717.3(EVC):c.1377G>A (p.Thr459=)
|
rs138725840
|
0.00003
|
NM_153717.3(EVC):c.1482G>A (p.Leu494=)
|
rs371300088
|
0.00003
|
NM_153717.3(EVC):c.1563+11T>A
|
rs1014470434
|
0.00003
|
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys)
|
rs771560788
|
0.00003
|
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)
|
rs371682994
|
0.00003
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
NM_153717.3(EVC):c.1722C>T (p.Arg574=)
|
rs144637923
|
0.00003
|
NM_153717.3(EVC):c.175-2A>G
|
rs767186464
|
0.00003
|
NM_153717.3(EVC):c.1798C>T (p.Leu600=)
|
rs750023994
|
0.00003
|
NM_153717.3(EVC):c.180C>T (p.Asp60=)
|
rs755788871
|
0.00003
|
NM_153717.3(EVC):c.1851C>G (p.Arg617=)
|
rs967986192
|
0.00003
|
NM_153717.3(EVC):c.1956C>T (p.Arg652=)
|
rs535012160
|
0.00003
|
NM_153717.3(EVC):c.231G>A (p.Ser77=)
|
rs140615894
|
0.00003
|
NM_153717.3(EVC):c.2457G>A (p.Arg819=)
|
rs1243308266
|
0.00003
|
NM_153717.3(EVC):c.2529C>T (p.Gly843=)
|
rs377066936
|
0.00003
|
NM_153717.3(EVC):c.2535T>C (p.His845=)
|
rs773156946
|
0.00003
|
NM_153717.3(EVC):c.2649C>T (p.Val883=)
|
rs1483799016
|
0.00003
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
NM_153717.3(EVC):c.461A>G (p.Glu154Gly)
|
rs1386247667
|
0.00003
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_153717.3(EVC):c.771A>G (p.Leu257=)
|
rs756340487
|
0.00003
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)
|
rs142231129
|
0.00002
|
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile)
|
rs769447796
|
0.00002
|
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln)
|
rs367655073
|
0.00002
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln)
|
rs770644264
|
0.00002
|
NM_147127.5(EVC2):c.1503C>G (p.Thr501=)
|
rs369530549
|
0.00002
|
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser)
|
rs200622704
|
0.00002
|
NM_147127.5(EVC2):c.1608A>G (p.Glu536=)
|
rs201898124
|
0.00002
|
NM_147127.5(EVC2):c.1755G>A (p.Arg585=)
|
rs375393612
|
0.00002
|
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter)
|
rs779707723
|
0.00002
|
NM_147127.5(EVC2):c.2046+20A>C
|
rs777490147
|
0.00002
|
NM_147127.5(EVC2):c.2073G>A (p.Ala691=)
|
rs765197478
|
0.00002
|
NM_147127.5(EVC2):c.2180G>A (p.Arg727His)
|
rs140363692
|
0.00002
|
NM_147127.5(EVC2):c.2337G>A (p.Glu779=)
|
rs985968905
|
0.00002
|
NM_147127.5(EVC2):c.2350A>G (p.Met784Val)
|
rs202191109
|
0.00002
|
NM_147127.5(EVC2):c.2439C>T (p.Asp813=)
|
rs370538823
|
0.00002
|
NM_147127.5(EVC2):c.2502-19T>C
|
rs564320592
|
0.00002
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
NM_147127.5(EVC2):c.2637A>G (p.Gln879=)
|
rs749805702
|
0.00002
|
NM_147127.5(EVC2):c.2667C>T (p.Phe889=)
|
rs201173415
|
0.00002
|
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu)
|
rs556658594
|
0.00002
|
NM_147127.5(EVC2):c.2707-9C>G
|
rs772234395
|
0.00002
|
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln)
|
rs767317898
|
0.00002
|
NM_147127.5(EVC2):c.2829+1G>A
|
rs752255602
|
0.00002
|
NM_147127.5(EVC2):c.2949G>A (p.Ser983=)
|
rs755297128
|
0.00002
|
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp)
|
rs139610006
|
0.00002
|
NM_147127.5(EVC2):c.3057+13G>A
|
rs770915834
|
0.00002
|
NM_147127.5(EVC2):c.3058-5T>C
|
rs765936867
|
0.00002
|
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)
|
rs376133710
|
0.00002
|
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=)
|
rs778954685
|
0.00002
|
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=)
|
rs779715707
|
0.00002
|
NM_147127.5(EVC2):c.3360+9G>A
|
rs747744305
|
0.00002
|
NM_147127.5(EVC2):c.3660del (p.Ser1220fs)
|
rs753581033
|
0.00002
|
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile)
|
rs751725959
|
0.00002
|
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)
|
rs771435248
|
0.00002
|
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=)
|
rs966509995
|
0.00002
|
NM_147127.5(EVC2):c.522G>A (p.Val174=)
|
rs140251602
|
0.00002
|
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser)
|
rs753207027
|
0.00002
|
NM_147127.5(EVC2):c.753A>G (p.Gly251=)
|
rs369737795
|
0.00002
|
NM_147127.5(EVC2):c.792A>G (p.Gln264=)
|
rs1014985062
|
0.00002
|
NM_147127.5(EVC2):c.869C>T (p.Thr290Met)
|
rs149414427
|
0.00002
|
NM_147127.5(EVC2):c.924C>T (p.Leu308=)
|
rs140800339
|
0.00002
|
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
|
rs921573510
|
0.00002
|
NM_153717.3(EVC):c.114C>G (p.Leu38=)
|
rs1167442380
|
0.00002
|
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys)
|
rs756430334
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_153717.3(EVC):c.1389G>A (p.Thr463=)
|
rs765596595
|
0.00002
|
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)
|
rs376440801
|
0.00002
|
NM_153717.3(EVC):c.1539C>T (p.Thr513=)
|
rs549251750
|
0.00002
|
NM_153717.3(EVC):c.1581C>T (p.Thr527=)
|
rs748792939
|
0.00002
|
NM_153717.3(EVC):c.1872C>T (p.Gly624=)
|
rs374432399
|
0.00002
|
NM_153717.3(EVC):c.187C>G (p.Gln63Glu)
|
rs371329240
|
0.00002
|
NM_153717.3(EVC):c.188A>G (p.Gln63Arg)
|
rs772017175
|
0.00002
|
NM_153717.3(EVC):c.2098-4C>G
|
rs771784128
|
0.00002
|
NM_153717.3(EVC):c.225C>T (p.Thr75=)
|
rs200161588
|
0.00002
|
NM_153717.3(EVC):c.2331G>A (p.Glu777=)
|
rs749197907
|
0.00002
|
NM_153717.3(EVC):c.2334C>T (p.Ser778=)
|
rs754983705
|
0.00002
|
NM_153717.3(EVC):c.2449+8A>C
|
rs575130220
|
0.00002
|
NM_153717.3(EVC):c.246A>G (p.Pro82=)
|
rs144606687
|
0.00002
|
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys)
|
rs745451709
|
0.00002
|
NM_153717.3(EVC):c.2562-2A>G
|
rs1293098417
|
0.00002
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
0.00002
|
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys)
|
rs772327981
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_153717.3(EVC):c.2894+9G>C
|
rs776278582
|
0.00002
|
NM_153717.3(EVC):c.384+19A>G
|
rs200666993
|
0.00002
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_153717.3(EVC):c.411G>A (p.Pro137=)
|
rs758770136
|
0.00002
|
NM_153717.3(EVC):c.474C>T (p.Ser158=)
|
rs751812626
|
0.00002
|
NM_153717.3(EVC):c.519C>T (p.Ser173=)
|
rs1287616282
|
0.00002
|
NM_153717.3(EVC):c.626T>C (p.Val209Ala)
|
rs1230866971
|
0.00002
|
NM_153717.3(EVC):c.660C>T (p.Asp220=)
|
rs200294295
|
0.00002
|
NM_153717.3(EVC):c.702+8G>A
|
rs757444170
|
0.00002
|
NM_153717.3(EVC):c.801+16A>G
|
rs774227453
|
0.00002
|
NM_153717.3(EVC):c.801+8T>C
|
rs1388494242
|
0.00002
|
NM_147127.5(EVC2):c.1006-12A>G
|
rs1205381388
|
0.00001
|
NM_147127.5(EVC2):c.1006-7C>T
|
rs760800233
|
0.00001
|
NM_147127.5(EVC2):c.1035C>G (p.Pro345=)
|
rs1719022666
|
0.00001
|
NM_147127.5(EVC2):c.1056T>C (p.Asp352=)
|
rs900466909
|
0.00001
|
NM_147127.5(EVC2):c.1062G>A (p.Val354=)
|
rs756157217
|
0.00001
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00001
|
NM_147127.5(EVC2):c.1107T>C (p.Ser369=)
|
rs776250707
|
0.00001
|
NM_147127.5(EVC2):c.1134A>G (p.Gln378=)
|
rs756310412
|
0.00001
|
NM_147127.5(EVC2):c.1146-9G>T
|
rs774847750
|
0.00001
|
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu)
|
rs1468421367
|
0.00001
|
NM_147127.5(EVC2):c.1245C>G (p.Thr415=)
|
rs747208576
|
0.00001
|
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter)
|
rs1369020144
|
0.00001
|
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr)
|
rs1459733035
|
0.00001
|
NM_147127.5(EVC2):c.1380G>C (p.Leu460=)
|
rs1438407396
|
0.00001
|
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs)
|
rs772840335
|
0.00001
|
NM_147127.5(EVC2):c.1392G>A (p.Lys464=)
|
rs1362654881
|
0.00001
|
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val)
|
rs774347118
|
0.00001
|
NM_147127.5(EVC2):c.1440A>G (p.Ala480=)
|
rs779955202
|
0.00001
|
NM_147127.5(EVC2):c.1455A>G (p.Lys485=)
|
rs1371814417
|
0.00001
|
NM_147127.5(EVC2):c.1476T>C (p.Ala492=)
|
rs141479252
|
0.00001
|
NM_147127.5(EVC2):c.1485C>T (p.Cys495=)
|
rs911180448
|
0.00001
|
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile)
|
rs1209098952
|
0.00001
|
NM_147127.5(EVC2):c.1542C>T (p.Leu514=)
|
rs376252506
|
0.00001
|
NM_147127.5(EVC2):c.1545T>A (p.Ala515=)
|
rs1716570565
|
0.00001
|
NM_147127.5(EVC2):c.1584G>A (p.Gln528=)
|
rs1273439269
|
0.00001
|
NM_147127.5(EVC2):c.1620C>T (p.Ile540=)
|
rs768068789
|
0.00001
|
NM_147127.5(EVC2):c.1650C>T (p.Phe550=)
|
rs765432520
|
0.00001
|
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly)
|
rs766349604
|
0.00001
|
NM_147127.5(EVC2):c.1710+10C>T
|
rs779023251
|
0.00001
|
NM_147127.5(EVC2):c.1711-6T>A
|
rs780082286
|
0.00001
|
NM_147127.5(EVC2):c.1713dup (p.Asn572fs)
|
rs1553836165
|
0.00001
|
NM_147127.5(EVC2):c.171G>T (p.Gly57=)
|
rs1722350740
|
0.00001
|
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn)
|
rs757316188
|
0.00001
|
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)
|
rs1222356750
|
0.00001
|
NM_147127.5(EVC2):c.174C>G (p.Pro58=)
|
rs1317163956
|
0.00001
|
NM_147127.5(EVC2):c.180G>C (p.Leu60=)
|
rs746557117
|
0.00001
|
NM_147127.5(EVC2):c.1827G>A (p.Val609=)
|
rs758243772
|
0.00001
|
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr)
|
rs765933739
|
0.00001
|
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter)
|
rs137852925
|
0.00001
|
NM_147127.5(EVC2):c.1881C>T (p.His627=)
|
rs1181526421
|
0.00001
|
NM_147127.5(EVC2):c.1897C>T (p.Leu633=)
|
rs755775994
|
0.00001
|
NM_147127.5(EVC2):c.1899G>C (p.Leu633=)
|
rs750061407
|
0.00001
|
NM_147127.5(EVC2):c.1908C>T (p.Asp636=)
|
rs753259274
|
0.00001
|
NM_147127.5(EVC2):c.1923A>G (p.Leu641=)
|
rs1193715900
|
0.00001
|
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
|
rs773470850
|
0.00001
|
NM_147127.5(EVC2):c.1947C>G (p.Val649=)
|
rs748436461
|
0.00001
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
NM_147127.5(EVC2):c.195G>A (p.Gly65=)
|
rs1351285832
|
0.00001
|
NM_147127.5(EVC2):c.1974T>C (p.Asn658=)
|
rs146401544
|
0.00001
|
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)
|
rs201835379
|
0.00001
|
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly)
|
rs754390055
|
0.00001
|
NM_147127.5(EVC2):c.2026A>C (p.Arg676=)
|
rs922218808
|
0.00001
|
NM_147127.5(EVC2):c.2043A>G (p.Gln681=)
|
rs774467445
|
0.00001
|
NM_147127.5(EVC2):c.2056dup (p.Gln686fs)
|
rs1265421045
|
0.00001
|
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr)
|
rs1318313186
|
0.00001
|
NM_147127.5(EVC2):c.2088C>G (p.Ala696=)
|
rs1460893645
|
0.00001
|
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
|
rs781623802
|
0.00001
|
NM_147127.5(EVC2):c.2109C>T (p.Ala703=)
|
rs1290218024
|
0.00001
|
NM_147127.5(EVC2):c.2169G>A (p.Glu723=)
|
rs1300347009
|
0.00001
|
NM_147127.5(EVC2):c.216G>A (p.Glu72=)
|
rs1478999602
|
0.00001
|
NM_147127.5(EVC2):c.2172G>T (p.Leu724=)
|
rs546009991
|
0.00001
|
NM_147127.5(EVC2):c.2193C>T (p.Ala731=)
|
rs143262952
|
0.00001
|
NM_147127.5(EVC2):c.219C>T (p.Ser73=)
|
rs1423567913
|
0.00001
|
NM_147127.5(EVC2):c.2226G>A (p.Ser742=)
|
rs1225003407
|
0.00001
|
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp)
|
rs532778814
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_147127.5(EVC2):c.2265G>A (p.Gln755=)
|
rs962222538
|
0.00001
|
NM_147127.5(EVC2):c.2274C>T (p.Ala758=)
|
rs1195932614
|
0.00001
|
NM_147127.5(EVC2):c.228+10G>T
|
rs1478451043
|
0.00001
|
NM_147127.5(EVC2):c.229-1G>T
|
rs1214848359
|
0.00001
|
NM_147127.5(EVC2):c.229-7T>G
|
rs763121941
|
0.00001
|
NM_147127.5(EVC2):c.2292C>G (p.Leu764=)
|
rs200598574
|
0.00001
|
NM_147127.5(EVC2):c.2364C>T (p.Ala788=)
|
rs575617564
|
0.00001
|
NM_147127.5(EVC2):c.2376G>A (p.Glu792=)
|
rs752095410
|
0.00001
|
NM_147127.5(EVC2):c.2379G>A (p.Gly793=)
|
rs984357172
|
0.00001
|
NM_147127.5(EVC2):c.2391C>T (p.Asp797=)
|
rs920334676
|
0.00001
|
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter)
|
rs1282621867
|
0.00001
|
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg)
|
rs577020845
|
0.00001
|
NM_147127.5(EVC2):c.2424G>C (p.Gln808His)
|
rs541956407
|
0.00001
|
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter)
|
rs548681312
|
0.00001
|
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter)
|
rs770918273
|
0.00001
|
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter)
|
rs1715453232
|
0.00001
|
NM_147127.5(EVC2):c.2607C>G (p.Pro869=)
|
rs752513992
|
0.00001
|
NM_147127.5(EVC2):c.2649G>A (p.Ala883=)
|
rs751714104
|
0.00001
|
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)
|
rs146538906
|
0.00001
|
NM_147127.5(EVC2):c.2685C>T (p.Ala895=)
|
rs771623926
|
0.00001
|
NM_147127.5(EVC2):c.2706+5G>T
|
rs747272944
|
0.00001
|
NM_147127.5(EVC2):c.2707-3C>T
|
rs755042717
|
0.00001
|
NM_147127.5(EVC2):c.283+18T>G
|
rs894951363
|
0.00001
|
NM_147127.5(EVC2):c.2832T>C (p.Val944=)
|
rs1380334833
|
0.00001
|
NM_147127.5(EVC2):c.284-10T>C
|
rs1192584069
|
0.00001
|
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu)
|
rs1228531350
|
0.00001
|
NM_147127.5(EVC2):c.2925G>A (p.Ala975=)
|
rs760612784
|
0.00001
|
NM_147127.5(EVC2):c.2937C>T (p.Thr979=)
|
rs750126669
|
0.00001
|
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser)
|
rs753942333
|
0.00001
|
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe)
|
rs897972159
|
0.00001
|
NM_147127.5(EVC2):c.2995C>T (p.Leu999=)
|
rs745415485
|
0.00001
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=)
|
rs751382770
|
0.00001
|
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=)
|
rs775309745
|
0.00001
|
NM_147127.5(EVC2):c.3057+13G>T
|
rs770915834
|
0.00001
|
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=)
|
rs1284265777
|
0.00001
|
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=)
|
rs987312090
|
0.00001
|
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=)
|
rs777020546
|
0.00001
|
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=)
|
rs777724107
|
0.00001
|
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)
|
rs779884599
|
0.00001
|
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)
|
rs144167138
|
0.00001
|
NM_147127.5(EVC2):c.3219C>T (p.Val1073=)
|
rs776929675
|
0.00001
|
NM_147127.5(EVC2):c.3264T>C (p.His1088=)
|
rs756868538
|
0.00001
|
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=)
|
rs754317285
|
0.00001
|
NM_147127.5(EVC2):c.3273-7A>T
|
rs1382818953
|
0.00001
|
NM_147127.5(EVC2):c.3273-8C>T
|
rs756556239
|
0.00001
|
NM_147127.5(EVC2):c.327C>G (p.Val109=)
|
rs1721335332
|
0.00001
|
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=)
|
rs746688755
|
0.00001
|
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=)
|
rs1451776773
|
0.00001
|
NM_147127.5(EVC2):c.3361-2A>G
|
rs1036371676
|
0.00001
|
NM_147127.5(EVC2):c.3361-2del
|
rs757914735
|
0.00001
|
NM_147127.5(EVC2):c.3361-4G>T
|
rs1378260553
|
0.00001
|
NM_147127.5(EVC2):c.3361-5T>C
|
rs374025466
|
0.00001
|
NM_147127.5(EVC2):c.3361-7C>G
|
rs772860972
|
0.00001
|
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=)
|
rs1461295651
|
0.00001
|
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=)
|
rs778492108
|
0.00001
|
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=)
|
rs757807439
|
0.00001
|
NM_147127.5(EVC2):c.33G>A (p.Thr11=)
|
rs1202476781
|
0.00001
|
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=)
|
rs768312867
|
0.00001
|
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=)
|
rs1321179195
|
0.00001
|
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=)
|
rs1291370512
|
0.00001
|
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met)
|
rs775202977
|
0.00001
|
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr)
|
rs748514374
|
0.00001
|
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs)
|
rs1560126707
|
0.00001
|
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=)
|
rs770872108
|
0.00001
|
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=)
|
rs373829825
|
0.00001
|
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)
|
rs762696562
|
0.00001
|
NM_147127.5(EVC2):c.3557+7G>C
|
rs748684933
|
0.00001
|
NM_147127.5(EVC2):c.3557+9C>T
|
rs928653922
|
0.00001
|
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His)
|
rs1346353134
|
0.00001
|
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn)
|
rs752599166
|
0.00001
|
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=)
|
rs754595798
|
0.00001
|
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=)
|
rs374425966
|
0.00001
|
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys)
|
rs763433901
|
0.00001
|
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=)
|
rs962774281
|
0.00001
|
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=)
|
rs770129558
|
0.00001
|
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=)
|
rs767740349
|
0.00001
|
NM_147127.5(EVC2):c.372T>C (p.Ala124=)
|
rs753895375
|
0.00001
|
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=)
|
rs775355661
|
0.00001
|
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=)
|
rs1032044767
|
0.00001
|
NM_147127.5(EVC2):c.3762del (p.Val1255fs)
|
rs1577093258
|
0.00001
|
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=)
|
rs777144379
|
0.00001
|
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=)
|
rs371771308
|
0.00001
|
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro)
|
rs746578489
|
0.00001
|
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=)
|
rs953355815
|
0.00001
|
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=)
|
rs1277969148
|
0.00001
|
NM_147127.5(EVC2):c.408G>A (p.Lys136=)
|
rs763680760
|
0.00001
|
NM_147127.5(EVC2):c.40C>T (p.Leu14=)
|
rs1722366826
|
0.00001
|
NM_147127.5(EVC2):c.411G>A (p.Lys137=)
|
rs762375976
|
0.00001
|
NM_147127.5(EVC2):c.429G>A (p.Glu143=)
|
rs754435299
|
0.00001
|
NM_147127.5(EVC2):c.450+2T>C
|
rs781096099
|
0.00001
|
NM_147127.5(EVC2):c.451-7del
|
rs1290670058
|
0.00001
|
NM_147127.5(EVC2):c.45C>T (p.Ala15=)
|
rs1285560156
|
0.00001
|
NM_147127.5(EVC2):c.498A>G (p.Val166=)
|
rs369509893
|
0.00001
|
NM_147127.5(EVC2):c.520-7G>T
|
rs1177228956
|
0.00001
|
NM_147127.5(EVC2):c.534T>C (p.Ser178=)
|
rs1720948331
|
0.00001
|
NM_147127.5(EVC2):c.551G>A (p.Arg184His)
|
rs771841841
|
0.00001
|
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr)
|
rs754001550
|
0.00001
|
NM_147127.5(EVC2):c.591A>G (p.Ser197=)
|
rs1720942772
|
0.00001
|
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu)
|
rs766533908
|
0.00001
|
NM_147127.5(EVC2):c.612C>T (p.Leu204=)
|
rs1317049169
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_147127.5(EVC2):c.62dup (p.Ala22fs)
|
rs1430962566
|
0.00001
|
NM_147127.5(EVC2):c.630T>A (p.Ala210=)
|
rs1386228779
|
0.00001
|
NM_147127.5(EVC2):c.636C>T (p.Leu212=)
|
rs768639624
|
0.00001
|
NM_147127.5(EVC2):c.639C>T (p.Thr213=)
|
rs1323570343
|
0.00001
|
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter)
|
rs1720937470
|
0.00001
|
NM_147127.5(EVC2):c.681G>A (p.Gln227=)
|
rs997848448
|
0.00001
|
NM_147127.5(EVC2):c.706+13C>T
|
rs371526145
|
0.00001
|
NM_147127.5(EVC2):c.706+2T>C
|
rs1360260333
|
0.00001
|
NM_147127.5(EVC2):c.707-5C>T
|
rs781300676
|
0.00001
|
NM_147127.5(EVC2):c.707-8C>G
|
rs746187089
|
0.00001
|
NM_147127.5(EVC2):c.741G>A (p.Thr247=)
|
rs772821703
|
0.00001
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
NM_147127.5(EVC2):c.759C>T (p.Leu253=)
|
rs746241303
|
0.00001
|
NM_147127.5(EVC2):c.78G>A (p.Gly26=)
|
rs1472845952
|
0.00001
|
NM_147127.5(EVC2):c.798C>G (p.Thr266=)
|
rs1217997624
|
0.00001
|
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter)
|
rs942590430
|
0.00001
|
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg)
|
rs771493745
|
0.00001
|
NM_147127.5(EVC2):c.855A>G (p.Ala285=)
|
rs1277622681
|
0.00001
|
NM_147127.5(EVC2):c.870+9C>T
|
rs749270873
|
0.00001
|
NM_147127.5(EVC2):c.871-5C>T
|
rs745871266
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_147127.5(EVC2):c.900A>G (p.Ala300=)
|
rs1049760300
|
0.00001
|
NM_147127.5(EVC2):c.918C>T (p.Phe306=)
|
rs1382381005
|
0.00001
|
NM_147127.5(EVC2):c.921C>T (p.Leu307=)
|
rs1243167455
|
0.00001
|
NM_147127.5(EVC2):c.9C>T (p.Pro3=)
|
rs573858756
|
0.00001
|
NM_153717.3(EVC):c.100C>T (p.Leu34=)
|
rs1577297567
|
0.00001
|
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter)
|
rs1729663828
|
0.00001
|
NM_153717.3(EVC):c.1089G>T (p.Leu363=)
|
rs773566770
|
0.00001
|
NM_153717.3(EVC):c.1098+9G>A
|
rs1729682283
|
0.00001
|
NM_153717.3(EVC):c.1101C>T (p.Asp367=)
|
rs186537549
|
0.00001
|
NM_153717.3(EVC):c.1125G>A (p.Arg375=)
|
rs372787652
|
0.00001
|
NM_153717.3(EVC):c.1149G>A (p.Glu383=)
|
rs1577439692
|
0.00001
|
NM_153717.3(EVC):c.117C>T (p.Gly39=)
|
rs1424931005
|
0.00001
|
NM_153717.3(EVC):c.1188G>A (p.Arg396=)
|
rs367659093
|
0.00001
|
NM_153717.3(EVC):c.1236G>A (p.Lys412=)
|
rs1730618149
|
0.00001
|
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln)
|
rs745640537
|
0.00001
|
NM_153717.3(EVC):c.1283C>T (p.Ala428Val)
|
rs1409088904
|
0.00001
|
NM_153717.3(EVC):c.1315+7C>T
|
rs1252318929
|
0.00001
|
NM_153717.3(EVC):c.1315+8G>A
|
rs550411377
|
0.00001
|
NM_153717.3(EVC):c.1316-10T>A
|
rs1730755993
|
0.00001
|
NM_153717.3(EVC):c.1323C>T (p.Val441=)
|
rs201393812
|
0.00001
|
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter)
|
rs753152908
|
0.00001
|
NM_153717.3(EVC):c.136C>T (p.Leu46Phe)
|
rs1246844384
|
0.00001
|
NM_153717.3(EVC):c.1387dup (p.Thr463fs)
|
rs1317662938
|
0.00001
|
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)
|
rs571637567
|
0.00001
|
NM_153717.3(EVC):c.1461C>T (p.Leu487=)
|
rs1414243707
|
0.00001
|
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)
|
rs146232611
|
0.00001
|
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly)
|
rs764556070
|
0.00001
|
NM_153717.3(EVC):c.1479C>G (p.Val493=)
|
rs751325286
|
0.00001
|
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter)
|
rs1460597472
|
0.00001
|
NM_153717.3(EVC):c.1560C>T (p.Cys520=)
|
rs764798059
|
0.00001
|
NM_153717.3(EVC):c.1563+8G>C
|
rs896046510
|
0.00001
|
NM_153717.3(EVC):c.1564-7G>A
|
rs201739032
|
0.00001
|
NM_153717.3(EVC):c.1602C>T (p.Phe534=)
|
rs766294209
|
0.00001
|
NM_153717.3(EVC):c.1638G>T (p.Met546Ile)
|
rs1225766769
|
0.00001
|
NM_153717.3(EVC):c.1647C>T (p.Leu549=)
|
rs756674302
|
0.00001
|
NM_153717.3(EVC):c.1650C>T (p.Pro550=)
|
rs1187336928
|
0.00001
|
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr)
|
rs926749491
|
0.00001
|
NM_153717.3(EVC):c.1698C>T (p.Ala566=)
|
rs911132556
|
0.00001
|
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
|
rs1373148885
|
0.00001
|
NM_153717.3(EVC):c.175-9G>A
|
rs753317536
|
0.00001
|
NM_153717.3(EVC):c.1764G>A (p.Glu588=)
|
rs1736003433
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.1777-8G>A
|
rs760016211
|
0.00001
|
NM_153717.3(EVC):c.1794T>C (p.Cys598=)
|
rs1162334289
|
0.00001
|
NM_153717.3(EVC):c.1806C>T (p.Ser602=)
|
rs749141466
|
0.00001
|
NM_153717.3(EVC):c.1836C>T (p.His612=)
|
rs1318231575
|
0.00001
|
NM_153717.3(EVC):c.1839G>A (p.Glu613=)
|
rs1419257094
|
0.00001
|
NM_153717.3(EVC):c.1845C>A (p.Thr615=)
|
rs1398493743
|
0.00001
|
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro)
|
rs1373632260
|
0.00001
|
NM_153717.3(EVC):c.1878C>T (p.Leu626=)
|
rs375743004
|
0.00001
|
NM_153717.3(EVC):c.1886+10G>A
|
rs1194224970
|
0.00001
|
NM_153717.3(EVC):c.1911G>T (p.Gly637=)
|
rs746048526
|
0.00001
|
NM_153717.3(EVC):c.1924T>C (p.Leu642=)
|
rs1458268098
|
0.00001
|
NM_153717.3(EVC):c.1955G>A (p.Arg652His)
|
rs765024763
|
0.00001
|
NM_153717.3(EVC):c.1989G>C (p.Arg663=)
|
rs1289387183
|
0.00001
|
NM_153717.3(EVC):c.2007C>T (p.His669=)
|
rs1309166734
|
0.00001
|
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)
|
rs774949132
|
0.00001
|
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys)
|
rs367968708
|
0.00001
|
NM_153717.3(EVC):c.2040G>A (p.Leu680=)
|
rs1490178041
|
0.00001
|
NM_153717.3(EVC):c.2058G>A (p.Gln686=)
|
rs747533747
|
0.00001
|
NM_153717.3(EVC):c.2070G>A (p.Glu690=)
|
rs1288478366
|
0.00001
|
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)
|
rs1714132239
|
0.00001
|
NM_153717.3(EVC):c.2088C>T (p.Leu696=)
|
rs761661473
|
0.00001
|
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082
|
0.00001
|
NM_153717.3(EVC):c.2098-5C>T
|
rs747808287
|
0.00001
|
NM_153717.3(EVC):c.2103G>A (p.Ala701=)
|
rs766383397
|
0.00001
|
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
|
rs765248751
|
0.00001
|
NM_153717.3(EVC):c.216T>C (p.Asn72=)
|
rs776973612
|
0.00001
|
NM_153717.3(EVC):c.2181C>T (p.Ala727=)
|
rs759398050
|
0.00001
|
NM_153717.3(EVC):c.2184G>A (p.Glu728=)
|
rs1387569961
|
0.00001
|
NM_153717.3(EVC):c.2226C>T (p.Cys742=)
|
rs1174341100
|
0.00001
|
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)
|
rs1446547358
|
0.00001
|
NM_153717.3(EVC):c.2250G>A (p.Val750=)
|
rs1577624232
|
0.00001
|
NM_153717.3(EVC):c.2304+7A>G
|
rs1714452682
|
0.00001
|
NM_153717.3(EVC):c.2313G>A (p.Leu771=)
|
rs756905795
|
0.00001
|
NM_153717.3(EVC):c.234A>G (p.Glu78=)
|
rs754706204
|
0.00001
|
NM_153717.3(EVC):c.2358C>G (p.Val786=)
|
rs895641001
|
0.00001
|
NM_153717.3(EVC):c.2365C>T (p.Leu789=)
|
rs1448746006
|
0.00001
|
NM_153717.3(EVC):c.2376G>A (p.Ala792=)
|
rs1005244629
|
0.00001
|
NM_153717.3(EVC):c.2406G>A (p.Glu802=)
|
rs747188003
|
0.00001
|
NM_153717.3(EVC):c.2430G>A (p.Gln810=)
|
rs370999882
|
0.00001
|
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)
|
rs374752679
|
0.00001
|
NM_153717.3(EVC):c.2450-7G>T
|
rs769527486
|
0.00001
|
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser)
|
rs1395596111
|
0.00001
|
NM_153717.3(EVC):c.2520G>A (p.Thr840=)
|
rs187406722
|
0.00001
|
NM_153717.3(EVC):c.2562-5C>G
|
rs747812027
|
0.00001
|
NM_153717.3(EVC):c.2624A>T (p.His875Leu)
|
rs200403160
|
0.00001
|
NM_153717.3(EVC):c.2625C>T (p.His875=)
|
rs764729655
|
0.00001
|
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)
|
rs930402783
|
0.00001
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)
|
rs771505230
|
0.00001
|
NM_153717.3(EVC):c.2782+13dup
|
rs770549797
|
0.00001
|
NM_153717.3(EVC):c.2782+9C>T
|
rs768005359
|
0.00001
|
NM_153717.3(EVC):c.2783-18T>G
|
rs544186339
|
0.00001
|
NM_153717.3(EVC):c.2783-8C>T
|
rs905232607
|
0.00001
|
NM_153717.3(EVC):c.2790C>T (p.Pro930=)
|
rs747237758
|
0.00001
|
NM_153717.3(EVC):c.27G>C (p.Lys9Asn)
|
rs1474600088
|
0.00001
|
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.2949G>A (p.Lys983=)
|
rs760920720
|
0.00001
|
NM_153717.3(EVC):c.300+10G>C
|
rs765963247
|
0.00001
|
NM_153717.3(EVC):c.301-13C>T
|
rs1478477072
|
0.00001
|
NM_153717.3(EVC):c.301-5C>T
|
rs1162511331
|
0.00001
|
NM_153717.3(EVC):c.303A>G (p.Glu101=)
|
rs1001609281
|
0.00001
|
NM_153717.3(EVC):c.30C>T (p.Ser10=)
|
rs1250304907
|
0.00001
|
NM_153717.3(EVC):c.339C>T (p.Phe113=)
|
rs750461424
|
0.00001
|
NM_153717.3(EVC):c.340G>A (p.Ala114Thr)
|
rs756208272
|
0.00001
|
NM_153717.3(EVC):c.343C>T (p.Leu115=)
|
rs755273705
|
0.00001
|
NM_153717.3(EVC):c.375G>A (p.Gln125=)
|
rs951334006
|
0.00001
|
NM_153717.3(EVC):c.384+9C>T
|
rs1726415422
|
0.00001
|
NM_153717.3(EVC):c.385-10G>A
|
rs766423757
|
0.00001
|
NM_153717.3(EVC):c.385-5C>T
|
rs897738878
|
0.00001
|
NM_153717.3(EVC):c.447A>G (p.Pro149=)
|
rs143250379
|
0.00001
|
NM_153717.3(EVC):c.450C>T (p.His150=)
|
rs760527698
|
0.00001
|
NM_153717.3(EVC):c.456G>A (p.Pro152=)
|
rs776773987
|
0.00001
|
NM_153717.3(EVC):c.49G>A (p.Gly17Arg)
|
rs1722991667
|
0.00001
|
NM_153717.3(EVC):c.510C>T (p.Asp170=)
|
rs757930422
|
0.00001
|
NM_153717.3(EVC):c.525A>G (p.Ser175=)
|
rs369785566
|
0.00001
|
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
|
rs1286815295
|
0.00001
|
NM_153717.3(EVC):c.57C>T (p.Asp19=)
|
rs1467149000
|
0.00001
|
NM_153717.3(EVC):c.582G>A (p.Arg194=)
|
rs200101865
|
0.00001
|
NM_153717.3(EVC):c.617+10G>T
|
rs1175798148
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.624C>T (p.Asp208=)
|
rs187457187
|
0.00001
|
NM_153717.3(EVC):c.773dup (p.Tyr258Ter)
|
rs748201094
|
0.00001
|
NM_153717.3(EVC):c.79C>T (p.Leu27=)
|
rs1723000600
|
0.00001
|
NM_153717.3(EVC):c.801+9T>C
|
rs775191328
|
0.00001
|
NM_153717.3(EVC):c.853A>G (p.Met285Val)
|
rs1464387798
|
0.00001
|
NM_153717.3(EVC):c.858G>A (p.Ser286=)
|
rs752988350
|
0.00001
|
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
|
rs1314509668
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NM_153717.3(EVC):c.876G>A (p.Glu292=)
|
rs902304992
|
0.00001
|
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
|
rs1252316234
|
0.00001
|
NM_153717.3(EVC):c.882C>T (p.Ile294=)
|
rs375414448
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NM_153717.3(EVC):c.885C>T (p.Thr295=)
|
rs1481146042
|
0.00001
|
NM_153717.3(EVC):c.888G>T (p.Leu296=)
|
rs998975965
|
0.00001
|
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter)
|
rs1560323242
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_153717.3(EVC):c.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NM_153717.3(EVC):c.930A>C (p.Leu310=)
|
rs776792609
|
0.00001
|
NM_153717.3(EVC):c.940-9A>C
|
rs1241925243
|
0.00001
|
NM_153717.3(EVC):c.99G>A (p.Leu33=)
|
rs1723007488
|
0.00001
|
NC_000004.11:g.(?_2200251)_(5710240_?)del
|
|
|
NC_000004.11:g.(?_5563146)_(5711294_?)del
|
|
|
NC_000004.11:g.(?_5564565)_(5578191_?)del
|
|
|
NC_000004.11:g.(?_5564565)_(5586587_?)del
|
|
|
NC_000004.11:g.(?_5565510)_(5811251_?)del
|
|
|
NC_000004.11:g.(?_5567008)_(5587839_?)dup
|
|
|
NC_000004.11:g.(?_5576402)_(5576509_?)del
|
|
|
NC_000004.11:g.(?_5617139)_(5812774_?)del
|
|
|
NC_000004.11:g.(?_5630276)_(5633769_?)del
|
|
|
NC_000004.11:g.(?_5630335)_(5635926_?)del
|
|
|
NC_000004.11:g.(?_5642221)_(5642585_?)del
|
|
|
NC_000004.11:g.(?_5682977)_(5735172_?)del
|
|
|
NC_000004.11:g.(?_5690874)_(5696238_?)del
|
|
|
NC_000004.11:g.(?_5696052)_(5696238_?)del
|
|
|
NC_000004.11:g.(?_5710003)_(5750043_?)del
|
|
|
NC_000004.11:g.(?_5711924)_(5817031_?)del
|
|
|
NC_000004.11:g.(?_5713108)_(5714221_?)del
|
|
|
NC_000004.11:g.(?_5720955)_(5721120_?)del
|
|
|
NC_000004.11:g.(?_5733142)_(5735172_?)del
|
|
|
NC_000004.11:g.(?_5749725)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5755670_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5758099_?)del
|
|
|
NC_000004.11:g.(?_5754553)_(5785501_?)del
|
|
|
NC_000004.11:g.(?_5785269)_(5803831_?)dup
|
|
|
NC_000004.11:g.(?_5785269)_(5812774_?)del
|
|
|
NC_000004.11:g.(?_5798739)_(5798969_?)del
|
|
|
NC_000004.11:g.(?_5803667)_(5806578_?)del
|
|
|
NC_000004.11:g.(?_5809918)_(5811348_?)del
|
|
|
NC_000004.12:g.(?_5562838)_(5758135_?)del
|
|
|
NC_000004.12:g.(?_5562848)_(5565369_?)del
|
|
|
NC_000004.12:g.(?_5568434)_(5568650_?)del
|
|
|
NC_000004.12:g.(?_5689147)_(5689353_?)del
|
|
|
NC_000004.12:g.(?_5729297)_(5758135_?)del
|
|
|
NC_000004.12:g.(?_5797002)_(5797252_?)del
|
|
|
NC_000004.12:g.5719249_5719252del
|
|
|
NC_000004.12:g.5729307del
|
|
|
NM_147127.5(EVC2):c.1005+11C>G
|
|
|
NM_147127.5(EVC2):c.1005+14G>A
|
|
|
NM_147127.5(EVC2):c.1005+15A>C
|
|
|
NM_147127.5(EVC2):c.1005+17G>A
|
|
|
NM_147127.5(EVC2):c.1005+1G>A
|
|
|
NM_147127.5(EVC2):c.1005+7C>G
|
rs1453329419
|
|
NM_147127.5(EVC2):c.1006-13A>C
|
|
|
NM_147127.5(EVC2):c.1006-15G>A
|
|
|
NM_147127.5(EVC2):c.1006-15G>T
|
rs371325268
|
|
NM_147127.5(EVC2):c.1006-16C>T
|
|
|
NM_147127.5(EVC2):c.1006-17C>A
|
|
|
NM_147127.5(EVC2):c.1006-17C>G
|
|
|
NM_147127.5(EVC2):c.1006-5T>C
|
|
|
NM_147127.5(EVC2):c.1006-5dup
|
|
|
NM_147127.5(EVC2):c.1006-6C>A
|
|
|
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
|
|
|
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
|
|
|
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn)
|
rs888701582
|
|
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
|
|
|
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
|
|
|
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
|
|
|
NM_147127.5(EVC2):c.1047C>T (p.Thr349=)
|
rs2108896061
|
|
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter)
|
rs2151750076
|
|
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
|
|
|
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
|
|
|
NM_147127.5(EVC2):c.1059C>A (p.Gly353=)
|
rs77793386
|
|
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs)
|
rs1553855127
|
|
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
|
|
|
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
|
|
|
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
|
|
|
NM_147127.5(EVC2):c.1086C>T (p.Asp362=)
|
rs1719017773
|
|
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
|
|
|
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
|
|
|
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
|
|
|
NM_147127.5(EVC2):c.1108del (p.Ser370fs)
|
rs2108895910
|
|
NM_147127.5(EVC2):c.1110C>T (p.Ser370=)
|
rs748718225
|
|
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
|
|
|
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
|
|
|
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
|
|
|
NM_147127.5(EVC2):c.1145+19A>G
|
rs1560206472
|
|
NM_147127.5(EVC2):c.1145+2del
|
|
|
NM_147127.5(EVC2):c.1146-11G>A
|
|
|
NM_147127.5(EVC2):c.1146-11G>T
|
|
|
NM_147127.5(EVC2):c.1146-12dup
|
|
|
NM_147127.5(EVC2):c.1146-18G>T
|
|
|
NM_147127.5(EVC2):c.1146-19T>C
|
|
|
NM_147127.5(EVC2):c.1146-19T>G
|
|
|
NM_147127.5(EVC2):c.1146-2A>T
|
|
|
NM_147127.5(EVC2):c.1146-5C>T
|
|
|
NM_147127.5(EVC2):c.1146-9G>C
|
rs774847750
|
|
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
|
|
|
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
|
|
|
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr)
|
rs780517206
|
|
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
|
|
|
NM_147127.5(EVC2):c.1161C>G (p.Thr387=)
|
rs1717278166
|
|
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
|
|
|
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
|
|
|
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
|
|
|
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter)
|
rs1345487794
|
|
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
|
|
|
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
|
|
|
NM_147127.5(EVC2):c.1173A>C (p.Ala391=)
|
rs1276908557
|
|
NM_147127.5(EVC2):c.1176T>C (p.Asp392=)
|
rs1577195366
|
|
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter)
|
rs2151750059
|
|
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys)
|
rs2108864342
|
|
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
|
|
|
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
|
|
|
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
|
|
|
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
|
|
|
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
|
|
|
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
|
|
|
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
|
|
|
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
|
|
|
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
|
|
|
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
|
|
|
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
|
|
|
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
|
|
|
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
|
|
|
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
|
|
|
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
|
|
|
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
|
|
|
NM_147127.5(EVC2):c.1230G>A (p.Leu410=)
|
rs1302326375
|
|
NM_147127.5(EVC2):c.1230G>T (p.Leu410=)
|
rs1302326375
|
|
NM_147127.5(EVC2):c.123C>T (p.Pro41=)
|
rs1722355414
|
|
NM_147127.5(EVC2):c.1245C>T (p.Thr415=)
|
rs747208576
|
|
NM_147127.5(EVC2):c.1254C>T (p.Gly418=)
|
rs2108864185
|
|
NM_147127.5(EVC2):c.1257C>T (p.His419=)
|
rs1717268176
|
|
NM_147127.5(EVC2):c.1260C>G (p.Leu420=)
|
rs150859940
|
|
NM_147127.5(EVC2):c.1260C>T (p.Leu420=)
|
rs150859940
|
|
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
|
|
|
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
|
|
|
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser)
|
rs1381375453
|
|
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
|
|
|
NM_147127.5(EVC2):c.1309C>T (p.Leu437=)
|
rs1434202396
|
|
NM_147127.5(EVC2):c.1311A>C (p.Leu437=)
|
rs77131452
|
|
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
|
|
|
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
|
|
|
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
|
|
|
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
|
|
|
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter)
|
rs372215987
|
|
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
|
|
|
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
|
|
|
NM_147127.5(EVC2):c.1335G>A (p.Glu445=)
|
rs2108863935
|
|
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter)
|
rs1477102573
|
|
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter)
|
rs1717259479
|
|
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
|
|
|
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
|
|
|
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
|
|
|
NM_147127.5(EVC2):c.1359A>T (p.Ala453=)
|
rs1478613738
|
|
NM_147127.5(EVC2):c.1360T>C (p.Leu454=)
|
rs2108863865
|
|
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
|
|
|
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys)
|
rs2108863818
|
|
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
|
|
|
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
|
|
|
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
|
|
|
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
|
|
|
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
|
|
|
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
|
|
|
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter)
|
rs2108863739
|
|
NM_147127.5(EVC2):c.1413G>A (p.Gln471=)
|
rs2108863731
|
|
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
|
|
|
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
|
|
|
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
|
|
|
NM_147127.5(EVC2):c.142_151del (p.Asp49fs)
|
rs1221185345
|
|
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
|
|
|
NM_147127.5(EVC2):c.144G>A (p.Arg48=)
|
rs2151750018
|
|
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
|
|
|
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
|
|
|
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
|
|
|
NM_147127.5(EVC2):c.1470+10G>A
|
rs1198809289
|
|
NM_147127.5(EVC2):c.1470+11_1470+19del
|
|
|
NM_147127.5(EVC2):c.1470+12C>G
|
|
|
NM_147127.5(EVC2):c.1470+1G>C
|
rs1577194652
|
|
NM_147127.5(EVC2):c.1470+1dup
|
rs1717244500
|
|
NM_147127.5(EVC2):c.1470+2T>C
|
|
|
NM_147127.5(EVC2):c.1470+6A>G
|
|
|
NM_147127.5(EVC2):c.1470+7C>T
|
|
|
NM_147127.5(EVC2):c.1470+8A>G
|
rs761155878
|
|
NM_147127.5(EVC2):c.1471-10C>T
|
rs1439878397
|
|
NM_147127.5(EVC2):c.1471-12T>G
|
|
|
NM_147127.5(EVC2):c.1471-13T>C
|
|
|
NM_147127.5(EVC2):c.1471-17C>T
|
|
|
NM_147127.5(EVC2):c.1471-20T>C
|
|
|
NM_147127.5(EVC2):c.1471-2168_1835del
|
|
|
NM_147127.5(EVC2):c.1471-4C>G
|
rs947596816
|
|
NM_147127.5(EVC2):c.1471-5T>A
|
rs1043283150
|
|
NM_147127.5(EVC2):c.1471-5T>C
|
rs1043283150
|
|
NM_147127.5(EVC2):c.1471-8C>G
|
rs2108851855
|
|
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs)
|
rs2108851802
|
|
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
|
|
|
NM_147127.5(EVC2):c.1498C>A (p.Arg500=)
|
rs148248777
|
|
NM_147127.5(EVC2):c.1503C>A (p.Thr501=)
|
rs369530549
|
|
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
|
|
|
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
|
|
|
NM_147127.5(EVC2):c.1509T>C (p.His503=)
|
rs771803987
|
|
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
|
|
|
NM_147127.5(EVC2):c.150C>T (p.Pro50=)
|
rs1347650453
|
|
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
|
|
|
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
|
|
|
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
|
|
|
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
|
|
|
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter)
|
rs2108851695
|
|
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
|
|
|
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
|
|
|
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs)
|
rs1560180583
|
|
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del)
|
rs772411576
|
|
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
|
|
|
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
|
|
|
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
|
|
|
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
|
|
|
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
|
|
|
NM_147127.5(EVC2):c.1578C>T (p.His526=)
|
|
|
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
|
|
|
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp)
|
rs1329925495
|
|
NM_147127.5(EVC2):c.159T>C (p.Ala53=)
|
rs2151749984
|
|
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter)
|
rs1284395468
|
|
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
|
|
|
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
|
|
|
NM_147127.5(EVC2):c.1614C>T (p.His538=)
|
|
|
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
|
|
|
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
|
|
|
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
|
|
|
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
|
|
|
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
|
|
|
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
|
|
|
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
|
|
|
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
|
|
|
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
|
|
|
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
|
|
|
NM_147127.5(EVC2):c.1671G>A (p.Glu557=)
|
rs2108851360
|
|
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
|
|
|
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
|
|
|
NM_147127.5(EVC2):c.1686G>T (p.Leu562=)
|
rs1236419324
|
|
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
|
|
|
NM_147127.5(EVC2):c.1689G>A (p.Leu563=)
|
rs2108851319
|
|
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
|
|
|
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
|
|
|
NM_147127.5(EVC2):c.1710+12G>A
|
|
|
NM_147127.5(EVC2):c.1710+14C>T
|
|
|
NM_147127.5(EVC2):c.1710+16C>T
|
|
|
NM_147127.5(EVC2):c.1710+17G>A
|
|
|
NM_147127.5(EVC2):c.1710+17G>T
|
|
|
NM_147127.5(EVC2):c.1710+1G>A
|
rs2108851279
|
|
NM_147127.5(EVC2):c.1710+2T>C
|
rs2108851273
|
|
NM_147127.5(EVC2):c.1710+7C>T
|
rs2108851268
|
|
NM_147127.5(EVC2):c.1710+8A>C
|
|
|
NM_147127.5(EVC2):c.1710+8A>G
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10del
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-12_1711-10dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-14T>C
|
|
|
NM_147127.5(EVC2):c.1711-18T>G
|
|
|
NM_147127.5(EVC2):c.1711-19T>A
|
|
|
NM_147127.5(EVC2):c.1711-1G>A
|
rs1553836169
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
NM_147127.5(EVC2):c.1711-9A>C
|
rs1716315517
|
|
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
|
|
|
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
|
|
|
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
|
|
|
NM_147127.5(EVC2):c.174C>T (p.Pro58=)
|
rs1317163956
|
|
NM_147127.5(EVC2):c.1752G>A (p.Lys584=)
|
rs762593768
|
|
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs)
|
rs2108847232
|
|
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
|
|
|
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
|
|
|
NM_147127.5(EVC2):c.1767T>C (p.Ser589=)
|
rs2108847209
|
|
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
|
|
|
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
|
|
|
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
|
|
|
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
|
|
|
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
|
|
|
NM_147127.5(EVC2):c.1788A>G (p.Glu596=)
|
rs2108847187
|
|
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
|
|
|
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=)
|
rs1716303868
|
|
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
|
|
|
NM_147127.5(EVC2):c.1794G>T (p.Leu598=)
|
rs1577179214
|
|
NM_147127.5(EVC2):c.1797C>T (p.Val599=)
|
rs2108847158
|
|
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser)
|
rs775815805
|
|
NM_147127.5(EVC2):c.1806C>G (p.Leu602=)
|
rs1172959079
|
|
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
|
|
|
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
|
|
|
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
|
|
|
NM_147127.5(EVC2):c.1812A>G (p.Ser604=)
|
rs781487000
|
|
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
|
|
|
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
|
|
|
NM_147127.5(EVC2):c.1833C>A (p.Gly611=)
|
rs879125910
|
|
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
|
|
|
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
|
|
|
NM_147127.5(EVC2):c.1854C>G (p.Ala618=)
|
rs139729159
|
|
NM_147127.5(EVC2):c.1854C>T (p.Ala618=)
|
rs139729159
|
|
NM_147127.5(EVC2):c.1857G>A (p.Gln619=)
|
rs2108847045
|
|
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs)
|
rs2108847014
|
|
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln)
|
rs1560177469
|
|
NM_147127.5(EVC2):c.1860G>C (p.Leu620=)
|
rs763402206
|
|
NM_147127.5(EVC2):c.1866C>T (p.His622=)
|
rs1300374301
|
|
NM_147127.5(EVC2):c.1869C>T (p.Leu623=)
|
rs557920458
|
|
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
|
|
|
NM_147127.5(EVC2):c.1878G>A (p.Lys626=)
|
rs1001648119
|
|
NM_147127.5(EVC2):c.1886+10A>C
|
rs2108846937
|
|
NM_147127.5(EVC2):c.1886+13A>G
|
|
|
NM_147127.5(EVC2):c.1886+16G>A
|
|
|
NM_147127.5(EVC2):c.1886+3A>G
|
rs2108846962
|
|
NM_147127.5(EVC2):c.1886+9C>G
|
|
|
NM_147127.5(EVC2):c.1886+9C>T
|
|
|
NM_147127.5(EVC2):c.1887-12C>T
|
|
|
NM_147127.5(EVC2):c.1887-15A>G
|
|
|
NM_147127.5(EVC2):c.1887-16C>T
|
|
|
NM_147127.5(EVC2):c.1887-17A>C
|
|
|
NM_147127.5(EVC2):c.1887-18T>C
|
|
|
NM_147127.5(EVC2):c.1887-19T>G
|
|
|
NM_147127.5(EVC2):c.1887-4C>G
|
rs376809175
|
|
NM_147127.5(EVC2):c.1887-4C>T
|
|
|
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
|
|
|
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
|
|
|
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
|
|
|
NM_147127.5(EVC2):c.1893G>A (p.Gly631=)
|
rs1363412492
|
|
NM_147127.5(EVC2):c.1923A>T (p.Leu641=)
|
rs1193715900
|
|
NM_147127.5(EVC2):c.1924T>C (p.Leu642=)
|
rs2108843348
|
|
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe)
|
rs2108843340
|
|
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
|
|
|
NM_147127.5(EVC2):c.1932G>A (p.Arg644=)
|
rs1577175315
|
|
NM_147127.5(EVC2):c.1935T>C (p.Ala645=)
|
rs2108843316
|
|
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
|
|
|
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
|
|
|
NM_147127.5(EVC2):c.1941A>G (p.Thr647=)
|
rs2108843302
|
|
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)
|
rs992326794
|
|
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
|
|
|
NM_147127.5(EVC2):c.1959G>A (p.Lys653=)
|
rs2108843274
|
|
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
|
|
|
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
|
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
|
|
|
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
|
|
|
NM_147127.5(EVC2):c.1991dup (p.Lys665fs)
|
rs2108843224
|
|
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
|
|
|
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly)
|
rs1722347761
|
|
NM_147127.5(EVC2):c.199_208del (p.Ser67fs)
|
rs1420414097
|
|
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
|
|
|
NM_147127.5(EVC2):c.2001C>G (p.Leu667=)
|
rs756855227
|
|
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
|
|
|
NM_147127.5(EVC2):c.2010del (p.Lys670fs)
|
rs2108843186
|
|
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
|
|
|
NM_147127.5(EVC2):c.2019T>C (p.Thr673=)
|
rs2108843154
|
|
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter)
|
rs2108843158
|
|
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
|
|
|
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
|
|
|
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter)
|
rs73198165
|
|
NM_147127.5(EVC2):c.2031A>G (p.Arg677=)
|
rs1577175103
|
|
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
|
|
|
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
|
|
|
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
|
|
|
NM_147127.5(EVC2):c.2046+10G>A
|
|
|
NM_147127.5(EVC2):c.2046+13T>C
|
|
|
NM_147127.5(EVC2):c.2046+14del
|
|
|
NM_147127.5(EVC2):c.2046+1G>A
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>C
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+1G>T
|
rs762947212
|
|
NM_147127.5(EVC2):c.2046+7A>G
|
rs769477288
|
|
NM_147127.5(EVC2):c.2047-10G>A
|
rs2108839481
|
|
NM_147127.5(EVC2):c.2047-17C>G
|
|
|
NM_147127.5(EVC2):c.2047-18dup
|
|
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
|
NM_147127.5(EVC2):c.2047-4C>G
|
rs2108839468
|
|
NM_147127.5(EVC2):c.2047-4C>T
|
|
|
NM_147127.5(EVC2):c.2047-9A>C
|
rs73198154
|
|
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
|
|
|
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
|
|
|
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
|
|
|
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
|
|
|
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
|
|
|
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
|
|
|
NM_147127.5(EVC2):c.205del (p.Ala69fs)
|
rs1400121444
|
|
NM_147127.5(EVC2):c.2067G>A (p.Glu689=)
|
rs201506848
|
|
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
|
|
|
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs)
|
rs1715829134
|
|
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
|
|
|
NM_147127.5(EVC2):c.2079C>A (p.Val693=)
|
rs201171209
|
|
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
|
|
|
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
|
|
|
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
|
|
|
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
|
|
|
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
|
|
|
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
|
|
|
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr)
|
rs1381479998
|
|
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
|
|
|
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
|
|
|
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
|
|
|
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn)
|
rs371896802
|
|
NM_147127.5(EVC2):c.2137C>T (p.Leu713=)
|
rs143662104
|
|
NM_147127.5(EVC2):c.2139G>C (p.Leu713=)
|
rs1420713271
|
|
NM_147127.5(EVC2):c.213C>A (p.Pro71=)
|
rs956555128
|
|
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
|
|
|
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
|
|
|
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
|
|
|
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
|
|
|
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
|
|
|
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
|
|
|
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
|
|
|
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
|
|
|
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
|
|
|
NM_147127.5(EVC2):c.2181T>A (p.Arg727=)
|
rs2108839127
|
|
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
|
|
|
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter)
|
rs2108839112
|
|
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
|
|
|
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
|
|
|
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
|
|
|
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn)
|
rs1715808033
|
|
NM_147127.5(EVC2):c.2208C>A (p.Leu736=)
|
rs762567213
|
|
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
|
|
|
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
|
|
|
NM_147127.5(EVC2):c.2217G>T (p.Leu739=)
|
rs2108839042
|
|
NM_147127.5(EVC2):c.2220C>A (p.Thr740=)
|
rs1322356357
|
|
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
|
|
|
NM_147127.5(EVC2):c.222_228+21del
|
rs1484464278
|
|
NM_147127.5(EVC2):c.2241C>T (p.Ala747=)
|
rs2108838978
|
|
NM_147127.5(EVC2):c.2256G>T (p.Arg752=)
|
rs745815880
|
|
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
|
|
|
NM_147127.5(EVC2):c.225G>A (p.Thr75=)
|
rs879806038
|
|
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
|
|
|
NM_147127.5(EVC2):c.225G>T (p.Thr75=)
|
rs879806038
|
|
NM_147127.5(EVC2):c.2260C>T (p.Leu754=)
|
rs994924513
|
|
NM_147127.5(EVC2):c.2262G>C (p.Leu754=)
|
rs1715799265
|
|
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg)
|
rs976833828
|
|
NM_147127.5(EVC2):c.228+11C>T
|
|
|
NM_147127.5(EVC2):c.228+13C>T
|
|
|
NM_147127.5(EVC2):c.228+14G>A
|
|
|
NM_147127.5(EVC2):c.228+16C>T
|
|
|
NM_147127.5(EVC2):c.228+17C>A
|
|
|
NM_147127.5(EVC2):c.228+18C>G
|
|
|
NM_147127.5(EVC2):c.228+20A>C
|
|
|
NM_147127.5(EVC2):c.228+8G>A
|
rs965425013
|
|
NM_147127.5(EVC2):c.228+9G>T
|
|
|
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
|
|
|
NM_147127.5(EVC2):c.229-14C>G
|
|
|
NM_147127.5(EVC2):c.229-18G>C
|
|
|
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
|
|
|
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
|
|
|
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
|
|
|
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
|
|
|
NM_147127.5(EVC2):c.2301G>A (p.Gly767=)
|
rs374178504
|
|
NM_147127.5(EVC2):c.2301G>C (p.Gly767=)
|
rs374178504
|
|
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
|
|
|
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser)
|
rs1454769055
|
|
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
|
|
|
NM_147127.5(EVC2):c.2319G>A (p.Leu773=)
|
rs775800077
|
|
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
|
|
|
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
|
|
|
NM_147127.5(EVC2):c.2328C>T (p.Ile776=)
|
rs2108838807
|
|
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
|
|
|
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
|
|
|
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
|
|
|
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser)
|
rs1272970867
|
|
NM_147127.5(EVC2):c.2346G>A (p.Lys782=)
|
rs2108838756
|
|
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
|
|
|
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
|
|
|
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
|
|
|
NM_147127.5(EVC2):c.2358A>G (p.Ala786=)
|
rs903048338
|
|
NM_147127.5(EVC2):c.2359C>A (p.Arg787=)
|
rs776830520
|
|
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
|
|
|
NM_147127.5(EVC2):c.2361G>T (p.Arg787=)
|
rs1041638769
|
|
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
|
|
|
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
|
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
|
|
|
NM_147127.5(EVC2):c.2373G>T (p.Leu791=)
|
rs762295916
|
|
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
|
|
|
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
|
|
|
NM_147127.5(EVC2):c.237C>G (p.Pro79=)
|
rs1721565602
|
|
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
|
|
|
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
|
|
|
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
|
|
|
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
|
|
|
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
|
|
|
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala)
|
rs931667385
|
|
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
|
|
|
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His)
|
rs1577169974
|
|
NM_147127.5(EVC2):c.2405del (p.Gly802fs)
|
rs2108838579
|
|
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
|
|
|
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
|
|
|
NM_147127.5(EVC2):c.2412G>A (p.Gln804=)
|
rs1715777770
|
|
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
|
|
|
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
|
|
|
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
|
|
|
NM_147127.5(EVC2):c.2433G>A (p.Lys811=)
|
rs2108838539
|
|
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
|
|
|
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
|
|
|
NM_147127.5(EVC2):c.2451C>G (p.Ala817=)
|
rs377709998
|
|
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
|
|
|
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
|
|
|
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
|
|
|
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
|
|
|
NM_147127.5(EVC2):c.2473C>T (p.Leu825=)
|
rs774185697
|
|
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro)
|
rs1270446777
|
|
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
|
|
|
NM_147127.5(EVC2):c.2481C>T (p.Arg827=)
|
rs1577169762
|
|
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
|
|
|
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter)
|
rs1715768907
|
|
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
|
|
|
NM_147127.5(EVC2):c.2490C>T (p.His830=)
|
rs944565097
|
|
NM_147127.5(EVC2):c.2493G>A (p.Leu831=)
|
rs369796222
|
|
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
|
|
|
NM_147127.5(EVC2):c.24G>A (p.Gly8=)
|
rs989328461
|
|
NM_147127.5(EVC2):c.24G>T (p.Gly8=)
|
rs989328461
|
|
NM_147127.5(EVC2):c.2501+14C>T
|
|
|
NM_147127.5(EVC2):c.2501+15G>A
|
|
|
NM_147127.5(EVC2):c.2501+17G>T
|
rs755613338
|
|
NM_147127.5(EVC2):c.2501+19C>T
|
|
|
NM_147127.5(EVC2):c.2501+1G>T
|
|
|
NM_147127.5(EVC2):c.2501+20G>C
|
|
|
NM_147127.5(EVC2):c.2501+7G>A
|
|
|
NM_147127.5(EVC2):c.2502-11C>G
|
|
|
NM_147127.5(EVC2):c.2502-12T>G
|
|
|
NM_147127.5(EVC2):c.2502-18C>G
|
|
|
NM_147127.5(EVC2):c.2502-20G>A
|
|
|
NM_147127.5(EVC2):c.2502-20G>C
|
|
|
NM_147127.5(EVC2):c.2502-7C>T
|
|
|
NM_147127.5(EVC2):c.2505G>A (p.Lys835=)
|
rs527993206
|
|
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
|
|
|
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
|
|
|
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
|
|
|
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
|
|
|
NM_147127.5(EVC2):c.2514C>A (p.Ser838=)
|
rs1715456441
|
|
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
|
|
|
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile)
|
rs2108833529
|
|
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs)
|
rs2108833500
|
|
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
|
|
|
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
|
|
|
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
|
|
|
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
|
|
|
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter)
|
rs2151739558
|
|
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
|
|
|
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
|
|
|
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
|
|
|
NM_147127.5(EVC2):c.2544G>A (p.Leu848=)
|
rs761816687
|
|
NM_147127.5(EVC2):c.2544G>C (p.Leu848=)
|
rs761816687
|
|
NM_147127.5(EVC2):c.2568T>C (p.His856=)
|
|
|
NM_147127.5(EVC2):c.2571C>T (p.Gly857=)
|
rs533262793
|
|
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
|
|
|
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
|
|
|
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
|
|
|
NM_147127.5(EVC2):c.258G>A (p.Val86=)
|
|
|
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
|
|
|
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
|
|
|
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
|
|
|
NM_147127.5(EVC2):c.2616G>C (p.Arg872=)
|
rs1715442469
|
|
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
|
|
|
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
|
|
|
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
|
|
|
NM_147127.5(EVC2):c.261A>G (p.Glu87=)
|
rs1721564411
|
|
NM_147127.5(EVC2):c.2620C>A (p.Arg874=)
|
rs760382778
|
|
NM_147127.5(EVC2):c.2631G>T (p.Leu877=)
|
rs2108833246
|
|
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
|
|
|
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs)
|
rs2108833230
|
|
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
|
|
|
NM_147127.5(EVC2):c.2649G>T (p.Ala883=)
|
rs751714104
|
|
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
|
|
|
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter)
|
rs981099037
|
|
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
|
|
|
NM_147127.5(EVC2):c.2658A>G (p.Glu886=)
|
rs2108833172
|
|
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
|
|
|
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
|
|
|
NM_147127.5(EVC2):c.2676G>A (p.Leu892=)
|
rs2108833128
|
|
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
|
|
|
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
|
|
|
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
|
|
|
NM_147127.5(EVC2):c.2682G>A (p.Gln894=)
|
rs772672973
|
|
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
|
|
|
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
|
|
|
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
|
|
|
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
|
|
|
NM_147127.5(EVC2):c.2703G>A (p.Leu901=)
|
rs902054124
|
|
NM_147127.5(EVC2):c.2706+10A>G
|
|
|
NM_147127.5(EVC2):c.2706+11C>G
|
|
|
NM_147127.5(EVC2):c.2706+13T>A
|
|
|
NM_147127.5(EVC2):c.2706+16C>G
|
|
|
NM_147127.5(EVC2):c.2706+1G>A
|
rs2108833043
|
|
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
|
|
|
NM_147127.5(EVC2):c.2707-11C>T
|
|
|
NM_147127.5(EVC2):c.2707-15C>G
|
rs2108829132
|
|
NM_147127.5(EVC2):c.2707-15C>T
|
|
|
NM_147127.5(EVC2):c.2707-1G>A
|
|
|
NM_147127.5(EVC2):c.2707-1G>T
|
rs749251178
|
|
NM_147127.5(EVC2):c.2707-4C>G
|
rs1368840473
|
|
NM_147127.5(EVC2):c.2707-6C>T
|
rs2108829097
|
|
NM_147127.5(EVC2):c.2707-7_2707-6insA
|
|
|
NM_147127.5(EVC2):c.2707-9C>A
|
rs772234395
|
|
NM_147127.5(EVC2):c.2712G>A (p.Gln904=)
|
rs2108829070
|
|
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
|
|
|
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter)
|
rs2108829049
|
|
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
|
|
|
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
|
|
|
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
|
|
|
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
|
|
|
NM_147127.5(EVC2):c.273T>C (p.Phe91=)
|
rs2151739532
|
|
NM_147127.5(EVC2):c.273dup (p.Lys92Ter)
|
rs2151739536
|
|
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
|
|
|
NM_147127.5(EVC2):c.2746del (p.Ser916fs)
|
rs886037763
|
|
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
|
|
|
NM_147127.5(EVC2):c.2757G>A (p.Glu919=)
|
rs2108828983
|
|
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
|
|
|
NM_147127.5(EVC2):c.2775C>A (p.Ile925=)
|
rs772481704
|
|
NM_147127.5(EVC2):c.2775C>T (p.Ile925=)
|
rs772481704
|
|
NM_147127.5(EVC2):c.2781C>T (p.Asp927=)
|
rs1193965705
|
|
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
|
|
|
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
|
|
|
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer)
|
rs765076649
|
|
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
|
|
|
NM_147127.5(EVC2):c.27C>G (p.Arg9=)
|
rs2151750187
|
|
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
|
|
|
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
|
|
|
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
|
|
|
NM_147127.5(EVC2):c.2820G>C (p.Leu940=)
|
rs145709352
|
|
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
|
|
|
NM_147127.5(EVC2):c.2829+11C>G
|
|
|
NM_147127.5(EVC2):c.2829+12T>G
|
|
|
NM_147127.5(EVC2):c.2829+2T>C
|
|
|
NM_147127.5(EVC2):c.2829+2T>G
|
|
|
NM_147127.5(EVC2):c.283+15T>C
|
|
|
NM_147127.5(EVC2):c.283+15del
|
|
|
NM_147127.5(EVC2):c.283+17G>A
|
|
|
NM_147127.5(EVC2):c.2830-10C>T
|
|
|
NM_147127.5(EVC2):c.2830-15C>A
|
|
|
NM_147127.5(EVC2):c.2830-18A>C
|
|
|
NM_147127.5(EVC2):c.2830-19C>T
|
|
|
NM_147127.5(EVC2):c.2830-1G>T
|
rs1553818428
|
|
NM_147127.5(EVC2):c.2830-5C>G
|
rs1712137643
|
|
NM_147127.5(EVC2):c.2830-5C>T
|
|
|
NM_147127.5(EVC2):c.2830-7C>T
|
|
|
NM_147127.5(EVC2):c.2830-8C>T
|
rs548370448
|
|
NM_147127.5(EVC2):c.2830-9C>T
|
rs1414864322
|
|
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
|
|
|
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)
|
rs1301855639
|
|
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
|
|
|
NM_147127.5(EVC2):c.2838T>C (p.Gly946=)
|
rs764538071
|
|
NM_147127.5(EVC2):c.284-10T>G
|
rs1192584069
|
|
NM_147127.5(EVC2):c.284-11T>C
|
|
|
NM_147127.5(EVC2):c.284-14T>C
|
|
|
NM_147127.5(EVC2):c.284-14T>G
|
|
|
NM_147127.5(EVC2):c.284-15GTT[2]
|
|
|
NM_147127.5(EVC2):c.284-16T>C
|
|
|
NM_147127.5(EVC2):c.284-19G>A
|
|
|
NM_147127.5(EVC2):c.284-20G>T
|
|
|
NM_147127.5(EVC2):c.284-5T>C
|
rs994568319
|
|
NM_147127.5(EVC2):c.2842T>C (p.Leu948=)
|
rs2108788809
|
|
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
|
|
|
NM_147127.5(EVC2):c.2847G>C (p.Leu949=)
|
rs763331726
|
|
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
|
|
|
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
|
|
|
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
|
|
|
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
|
|
|
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
|
|
|
NM_147127.5(EVC2):c.2880G>A (p.Glu960=)
|
rs903682822
|
|
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
|
|
|
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp)
|
rs748869122
|
|
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
|
|
|
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
|
|
|
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
|
|
|
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
|
|
|
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter)
|
rs145425340
|
|
NM_147127.5(EVC2):c.2898G>T (p.Ser966=)
|
rs150055324
|
|
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
|
|
|
NM_147127.5(EVC2):c.2919G>A (p.Gln973=)
|
rs759657816
|
|
NM_147127.5(EVC2):c.291A>C (p.Ala97=)
|
rs752850734
|
|
NM_147127.5(EVC2):c.2928C>A (p.Ser976=)
|
rs2108788636
|
|
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
|
|
|
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
|
|
|
NM_147127.5(EVC2):c.2937C>A (p.Thr979=)
|
rs750126669
|
|
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
|
|
|
NM_147127.5(EVC2):c.2940G>A (p.Glu980=)
|
rs2108788600
|
|
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
|
|
|
NM_147127.5(EVC2):c.2943T>C (p.Thr981=)
|
rs2108788584
|
|
NM_147127.5(EVC2):c.2944C>T (p.Leu982=)
|
rs927421145
|
|
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
|
|
|
NM_147127.5(EVC2):c.2946G>A (p.Leu982=)
|
rs2108788572
|
|
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
|
|
|
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu)
|
rs536732931
|
|
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
|
|
|
NM_147127.5(EVC2):c.2954del (p.Tyr985fs)
|
rs2108788549
|
|
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=)
|
rs2108788542
|
|
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
|
|
|
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
|
|
|
NM_147127.5(EVC2):c.2967C>T (p.Leu989=)
|
rs2108788495
|
|
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
|
|
|
NM_147127.5(EVC2):c.2980T>C (p.Leu994=)
|
rs2108788479
|
|
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
|
|
|
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
|
|
|
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
|
|
|
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
|
|
|
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=)
|
rs1577118232
|
|
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
|
|
|
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
|
|
|
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=)
|
rs1577118206
|
|
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter)
|
rs60809236
|
|
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp)
|
rs60809236
|
|
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
|
|
|
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val)
|
rs2108788322
|
|
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
|
|
|
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
|
|
|
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=)
|
rs182310332
|
|
NM_147127.5(EVC2):c.3051C>T (p.His1017=)
|
rs2108788303
|
|
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
|
|
|
NM_147127.5(EVC2):c.3057+10G>T
|
rs2108788255
|
|
NM_147127.5(EVC2):c.3057+11G>A
|
|
|
NM_147127.5(EVC2):c.3057+11G>T
|
|
|
NM_147127.5(EVC2):c.3057+12C>T
|
|
|
NM_147127.5(EVC2):c.3057+14_3057+16del
|
|
|
NM_147127.5(EVC2):c.3057+15T>C
|
|
|
NM_147127.5(EVC2):c.3057+1del
|
rs772639262
|
|
NM_147127.5(EVC2):c.3057+9A>C
|
rs774288170
|
|
NM_147127.5(EVC2):c.3057+9A>T
|
|
|
NM_147127.5(EVC2):c.3058-17G>A
|
|
|
NM_147127.5(EVC2):c.3058-1G>C
|
|
|
NM_147127.5(EVC2):c.3058-1G>T
|
|
|
NM_147127.5(EVC2):c.3058-20T>C
|
|
|
NM_147127.5(EVC2):c.3058-4G>T
|
rs1490949079
|
|
NM_147127.5(EVC2):c.3058-7T>C
|
|
|
NM_147127.5(EVC2):c.3058-9C>T
|
rs1722942659
|
|
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=)
|
rs2108778947
|
|
NM_147127.5(EVC2):c.306A>G (p.Lys102=)
|
rs2151736755
|
|
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=)
|
rs1208477150
|
|
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
|
rs1391194715
|
|
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
|
|
|
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu)
|
rs370438593
|
|
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=)
|
rs1429408396
|
|
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=)
|
rs2108778905
|
|
NM_147127.5(EVC2):c.3099G>A (p.Val1033=)
|
rs2108778897
|
|
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
|
|
|
NM_147127.5(EVC2):c.30C>A (p.Pro10=)
|
rs1193570001
|
|
NM_147127.5(EVC2):c.30dup (p.Thr11fs)
|
rs1442303442
|
|
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
|
|
|
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
|
|
|
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
|
|
|
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=)
|
rs767047805
|
|
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
|
|
|
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter)
|
rs200560762
|
|
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
|
|
|
NM_147127.5(EVC2):c.314del (p.Lys105fs)
|
|
|
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=)
|
rs770163191
|
|
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
|
|
|
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
|
|
|
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=)
|
rs778954685
|
|
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
|
|
|
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
|
|
|
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
|
|
|
NM_147127.5(EVC2):c.3194del (p.Asp1065fs)
|
rs2108778725
|
|
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=)
|
rs2108778699
|
|
NM_147127.5(EVC2):c.3210C>G (p.Val1070=)
|
rs1722925677
|
|
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
|
|
|
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=)
|
rs2108778665
|
|
NM_147127.5(EVC2):c.3225C>T (p.His1075=)
|
rs2108778650
|
|
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
|
|
|
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
|
|
|
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
|
|
|
NM_147127.5(EVC2):c.3239del (p.Lys1080fs)
|
rs1291275281
|
|
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=)
|
rs779116122
|
|
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
|
|
|
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
|
|
|
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
|
|
|
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=)
|
rs1235779972
|
|
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
|
|
|
NM_147127.5(EVC2):c.3272+1G>T
|
|
|
NM_147127.5(EVC2):c.3272+20G>A
|
|
|
NM_147127.5(EVC2):c.3272+20G>T
|
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_147127.5(EVC2):c.3272+8G>C
|
rs201800139
|
|
NM_147127.5(EVC2):c.3272+8G>T
|
|
|
NM_147127.5(EVC2):c.3273-19T>C
|
|
|
NM_147127.5(EVC2):c.3273-2A>C
|
rs2108777040
|
|
NM_147127.5(EVC2):c.3273-2del
|
rs768380281
|
|
NM_147127.5(EVC2):c.3273-6C>T
|
|
|
NM_147127.5(EVC2):c.3273-7A>C
|
|
|
NM_147127.5(EVC2):c.3273-7A>G
|
rs1382818953
|
|
NM_147127.5(EVC2):c.3273-7dup
|
rs2108777051
|
|
NM_147127.5(EVC2):c.3273-8C>A
|
|
|
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=)
|
rs1462214483
|
|
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
|
|
|
NM_147127.5(EVC2):c.3300C>T (p.Val1100=)
|
rs1577106532
|
|
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
|
|
|
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)
|
rs1006097259
|
|
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
|
|
|
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
|
|
|
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
|
|
|
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs)
|
rs1722814486
|
|
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=)
|
rs1722813978
|
|
NM_147127.5(EVC2):c.3360+16C>G
|
|
|
NM_147127.5(EVC2):c.3360+16del
|
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His)
|
rs1577106433
|
|
NM_147127.5(EVC2):c.3361-10T>C
|
rs2108771027
|
|
NM_147127.5(EVC2):c.3361-11G>A
|
rs369005788
|
|
NM_147127.5(EVC2):c.3361-14G>A
|
|
|
NM_147127.5(EVC2):c.3361-18C>T
|
|
|
NM_147127.5(EVC2):c.3361-20C>T
|
|
|
NM_147127.5(EVC2):c.3361-7C>T
|
rs772860972
|
|
NM_147127.5(EVC2):c.3361-8T>A
|
rs1358459718
|
|
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
|
|
|
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
|
|
|
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=)
|
rs1722461930
|
|
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
|
|
|
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=)
|
rs2108770980
|
|
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
|
|
|
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
|
|
|
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=)
|
rs752793772
|
|
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
|
|
|
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
|
|
|
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
|
|
|
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
|
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
|
|
|
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
|
|
|
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
|
|
|
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His)
|
rs779684008
|
|
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
|
|
|
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
|
|
|
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
|
|
|
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=)
|
rs1577099807
|
|
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
|
|
|
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
|
|
|
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=)
|
rs2108770885
|
|
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
|
|
|
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
|
|
|
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
|
|
|
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs)
|
rs1722452431
|
|
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
|
|
|
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
|
|
|
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs)
|
rs1722451930
|
|
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=)
|
rs1722452266
|
|
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs)
|
rs778793911
|
|
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=)
|
rs2108770821
|
|
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
|
|
|
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
|
|
|
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=)
|
rs1722451421
|
|
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
|
|
|
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
|
|
|
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=)
|
rs760612657
|
|
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
|
|
|
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs)
|
rs2108770774
|
|
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
|
|
|
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=)
|
rs370368827
|
|
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
|
|
|
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
|
|
|
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
|
|
|
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
|
|
|
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
|
|
|
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=)
|
rs767393828
|
|
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
|
|
|
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
|
|
|
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=)
|
rs373829825
|
|
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
|
|
|
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
|
|
|
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
|
|
|
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu)
|
rs144511301
|
|
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
|
|
|
NM_147127.5(EVC2):c.3546G>C (p.Val1182=)
|
rs2108770634
|
|
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
|
|
|
NM_147127.5(EVC2):c.354C>G (p.Ala118=)
|
rs915274674
|
|
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=)
|
rs1376155432
|
|
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
|
|
|
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=)
|
rs545528367
|
|
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
|
|
|
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
|
|
|
NM_147127.5(EVC2):c.3557+10G>T
|
|
|
NM_147127.5(EVC2):c.3557+15G>A
|
|
|
NM_147127.5(EVC2):c.3557+15G>C
|
|
|
NM_147127.5(EVC2):c.3557+18G>A
|
|
|
NM_147127.5(EVC2):c.3557+18G>T
|
|
|
NM_147127.5(EVC2):c.3557+20T>C
|
|
|
NM_147127.5(EVC2):c.3557+9C>G
|
|
|
NM_147127.5(EVC2):c.3558-12T>C
|
|
|
NM_147127.5(EVC2):c.3558-19A>G
|
|
|
NM_147127.5(EVC2):c.3558-19A>T
|
|
|
NM_147127.5(EVC2):c.3558-2A>G
|
|
|
NM_147127.5(EVC2):c.3558-4G>A
|
rs746098929
|
|
NM_147127.5(EVC2):c.3558-4G>T
|
|
|
NM_147127.5(EVC2):c.3558-6C>G
|
|
|
NM_147127.5(EVC2):c.3558-7C>T
|
rs2108767379
|
|
NM_147127.5(EVC2):c.3558-9del
|
rs2108767385
|
|
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
|
|
|
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
|
|
|
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=)
|
rs1485389885
|
|
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter)
|
rs1305301849
|
|
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr)
|
rs752599166
|
|
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=)
|
rs754595798
|
|
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
|
|
|
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=)
|
rs1392499941
|
|
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
|
|
|
NM_147127.5(EVC2):c.3640del (p.Ala1214fs)
|
rs1577095782
|
|
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
|
|
|
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
|
|
|
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer)
|
rs2108767230
|
|
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter)
|
rs369739594
|
|
NM_147127.5(EVC2):c.3659+10G>T
|
|
|
NM_147127.5(EVC2):c.3659+12C>T
|
|
|
NM_147127.5(EVC2):c.3659+13A>G
|
|
|
NM_147127.5(EVC2):c.3659+14C>G
|
|
|
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
|
|
|
NM_147127.5(EVC2):c.3659+20C>T
|
|
|
NM_147127.5(EVC2):c.3659+3A>C
|
|
|
NM_147127.5(EVC2):c.3659+3A>G
|
|
|
NM_147127.5(EVC2):c.3659+5T>C
|
rs1722200321
|
|
NM_147127.5(EVC2):c.3660-12C>A
|
|
|
NM_147127.5(EVC2):c.3660-12C>T
|
|
|
NM_147127.5(EVC2):c.3660-15T>C
|
|
|
NM_147127.5(EVC2):c.3660-18C>G
|
|
|
NM_147127.5(EVC2):c.3660-18C>T
|
|
|
NM_147127.5(EVC2):c.3660-5T>C
|
rs2108765328
|
|
NM_147127.5(EVC2):c.3660-6C>T
|
rs1722062295
|
|
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=)
|
rs1722060400
|
|
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=)
|
rs1157926409
|
|
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
|
|
|
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
|
|
|
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=)
|
rs150551872
|
|
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
|
|
|
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=)
|
rs375566943
|
|
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=)
|
rs2108765239
|
|
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg)
|
rs1399603571
|
|
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
|
|
|
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
|
|
|
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
|
|
|
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
|
|
|
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=)
|
rs774269538
|
|
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
|
|
|
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
|
|
|
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
|
|
|
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
|
|
|
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter)
|
rs769520928
|
|
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
|
|
|
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=)
|
rs1260164978
|
|
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
|
|
|
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
|
|
|
NM_147127.5(EVC2):c.3774A>T (p.Val1258=)
|
rs2108765124
|
|
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
|
|
|
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val)
|
rs894829697
|
|
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
|
|
|
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
|
|
|
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
|
|
|
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
|
rs1577093161
|
|
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
|
|
|
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
|
|
|
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
|
|
|
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
|
|
|
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
|
|
|
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=)
|
rs2108765040
|
|
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=)
|
rs2108765040
|
|
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
|
|
|
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
|
|
|
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
|
|
|
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=)
|
rs2108764998
|
|
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=)
|
rs1722042643
|
|
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
|
|
|
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
|
|
|
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=)
|
rs2108764900
|
|
NM_147127.5(EVC2):c.390dup (p.Ile131fs)
|
rs1253403779
|
|
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
|
|
|
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
|
|
|
NM_147127.5(EVC2):c.392dup (p.Pro132fs)
|
rs774416029
|
|
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
|
|
|
NM_147127.5(EVC2):c.399C>T (p.Ser133=)
|
rs2151736611
|
|
NM_147127.5(EVC2):c.417A>G (p.Leu139=)
|
rs2151736587
|
|
NM_147127.5(EVC2):c.420del (p.Phe140fs)
|
|
|
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
|
|
|
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
|
|
|
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
|
|
|
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
|
|
|
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
|
|
|
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
|
|
|
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
|
|
|
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
|
|
|
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
|
|
|
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
|
|
|
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
|
|
|
NM_147127.5(EVC2):c.449del (p.Leu150fs)
|
|
|
NM_147127.5(EVC2):c.450+10_450+14del
|
rs2151736515
|
|
NM_147127.5(EVC2):c.450+12G>A
|
|
|
NM_147127.5(EVC2):c.450+15C>A
|
|
|
NM_147127.5(EVC2):c.450+15C>G
|
|
|
NM_147127.5(EVC2):c.450+15C>T
|
|
|
NM_147127.5(EVC2):c.450+16A>G
|
|
|
NM_147127.5(EVC2):c.450+17A>T
|
rs370958428
|
|
NM_147127.5(EVC2):c.450+18T>C
|
|
|
NM_147127.5(EVC2):c.450+1G>C
|
|
|
NM_147127.5(EVC2):c.450+2T>G
|
|
|
NM_147127.5(EVC2):c.450+8T>C
|
|
|
NM_147127.5(EVC2):c.450+9T>C
|
rs2151736518
|
|
NM_147127.5(EVC2):c.451-13C>T
|
|
|
NM_147127.5(EVC2):c.451-16T>C
|
|
|
NM_147127.5(EVC2):c.451-16_451-15del
|
rs377541465
|
|
NM_147127.5(EVC2):c.451-17T>C
|
|
|
NM_147127.5(EVC2):c.451-18T>G
|
|
|
NM_147127.5(EVC2):c.451-1_452del
|
rs1721107398
|
|
NM_147127.5(EVC2):c.451-2A>G
|
rs1553851870
|
|
NM_147127.5(EVC2):c.451-7dup
|
|
|
NM_147127.5(EVC2):c.451-8T>C
|
rs1721108385
|
|
NM_147127.5(EVC2):c.451-9T>C
|
|
|
NM_147127.5(EVC2):c.45C>G (p.Ala15=)
|
rs1285560156
|
|
NM_147127.5(EVC2):c.465A>C (p.Ser155=)
|
rs1001393610
|
|
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
|
|
|
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
|
|
|
NM_147127.5(EVC2):c.489A>G (p.Glu163=)
|
rs2151733929
|
|
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
|
|
|
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
|
|
|
NM_147127.5(EVC2):c.498A>T (p.Val166=)
|
|
|
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
|
|
|
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile)
|
rs2151733915
|
|
NM_147127.5(EVC2):c.50dup (p.Leu18fs)
|
rs1553855151
|
|
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
|
|
|
NM_147127.5(EVC2):c.517C>T (p.Leu173=)
|
rs2151733903
|
|
NM_147127.5(EVC2):c.519+1G>A
|
|
|
NM_147127.5(EVC2):c.519+20G>A
|
|
|
NM_147127.5(EVC2):c.519+2T>C
|
rs1721102486
|
|
NM_147127.5(EVC2):c.519+2T>G
|
|
|
NM_147127.5(EVC2):c.519+7T>G
|
|
|
NM_147127.5(EVC2):c.520-10_520-8del
|
|
|
NM_147127.5(EVC2):c.520-13C>T
|
|
|
NM_147127.5(EVC2):c.520-14T>G
|
|
|
NM_147127.5(EVC2):c.520-18C>T
|
rs2151731962
|
|
NM_147127.5(EVC2):c.520-19C>G
|
|
|
NM_147127.5(EVC2):c.520-19C>T
|
|
|
NM_147127.5(EVC2):c.520-2A>T
|
|
|
NM_147127.5(EVC2):c.520-4C>G
|
|
|
NM_147127.5(EVC2):c.520-4C>T
|
rs764449545
|
|
NM_147127.5(EVC2):c.520-5C>T
|
|
|
NM_147127.5(EVC2):c.520-8T>C
|
rs2151731945
|
|
NM_147127.5(EVC2):c.520-9C>G
|
|
|
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
|
|
|
NM_147127.5(EVC2):c.531G>T (p.Ser177=)
|
rs146658261
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
|
|
|
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
|
|
|
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
|
|
|
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
|
|
|
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
|
|
|
NM_147127.5(EVC2):c.555A>G (p.Ile185Met)
|
rs2151731889
|
|
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg)
|
rs1342830628
|
|
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
|
|
|
NM_147127.5(EVC2):c.55C>A (p.Leu19Met)
|
rs1722364834
|
|
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
|
|
|
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
|
|
|
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
|
|
|
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
|
|
|
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
|
|
|
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
|
|
|
NM_147127.5(EVC2):c.594C>A (p.Ala198=)
|
rs1482138140
|
|
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser)
|
rs567458437
|
|
NM_147127.5(EVC2):c.597C>T (p.Asn199=)
|
rs1003816966
|
|
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
|
|
|
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
|
|
|
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
|
|
|
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
|
|
|
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
|
|
|
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
|
|
|
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
|
|
|
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
|
|
|
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
|
|
|
NM_147127.5(EVC2):c.627T>A (p.Ile209=)
|
rs1415784175
|
|
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
|
|
|
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile)
|
rs2151731712
|
|
NM_147127.5(EVC2):c.639C>G (p.Thr213=)
|
rs1323570343
|
|
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter)
|
rs779857359
|
|
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
|
|
|
NM_147127.5(EVC2):c.648C>T (p.Asp216=)
|
rs1720936758
|
|
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
|
|
|
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
|
|
|
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
|
|
|
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter)
|
rs745404766
|
|
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu)
|
rs1720935592
|
|
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
|
|
|
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
|
|
|
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
|
|
|
NM_147127.5(EVC2):c.666C>T (p.Thr222=)
|
rs372079686
|
|
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter)
|
rs999964757
|
|
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
|
|
|
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
|
|
|
NM_147127.5(EVC2):c.684T>G (p.Ala228=)
|
rs2151731613
|
|
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
|
|
|
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
|
|
|
NM_147127.5(EVC2):c.6C>T (p.Asp2=)
|
rs939013967
|
|
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
|
|
|
NM_147127.5(EVC2):c.706+12G>A
|
|
|
NM_147127.5(EVC2):c.706+14G>A
|
|
|
NM_147127.5(EVC2):c.706+6A>G
|
|
|
NM_147127.5(EVC2):c.707-10C>G
|
|
|
NM_147127.5(EVC2):c.707-10C>T
|
|
|
NM_147127.5(EVC2):c.707-15C>G
|
|
|
NM_147127.5(EVC2):c.707-15C>T
|
|
|
NM_147127.5(EVC2):c.707-17T>G
|
|
|
NM_147127.5(EVC2):c.707-20A>G
|
|
|
NM_147127.5(EVC2):c.707-20A>T
|
|
|
NM_147127.5(EVC2):c.707-2A>C
|
rs1302074641
|
|
NM_147127.5(EVC2):c.707-4G>T
|
rs113806963
|
|
NM_147127.5(EVC2):c.707-6G>A
|
rs2151728173
|
|
NM_147127.5(EVC2):c.707-7T>G
|
|
|
NM_147127.5(EVC2):c.714T>C (p.Asp238=)
|
rs977594999
|
|
NM_147127.5(EVC2):c.717C>A (p.Ala239=)
|
rs2151728147
|
|
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
|
|
|
NM_147127.5(EVC2):c.726C>T (p.Val242=)
|
|
|
NM_147127.5(EVC2):c.72G>C (p.Ala24=)
|
rs2151750115
|
|
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser)
|
rs530937415
|
|
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu)
|
rs1720636458
|
|
NM_147127.5(EVC2):c.735A>G (p.Ala245=)
|
rs2151728120
|
|
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
|
|
|
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
|
|
|
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
|
|
|
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
|
|
|
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
|
|
|
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
|
|
|
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter)
|
rs1553850677
|
|
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
|
|
|
NM_147127.5(EVC2):c.777C>T (p.Leu259=)
|
rs754899418
|
|
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
|
|
|
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
|
|
|
NM_147127.5(EVC2):c.789C>T (p.Ala263=)
|
rs2151728052
|
|
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
|
|
|
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
|
|
|
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
|
|
|
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter)
|
rs2151728030
|
|
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
|
|
|
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
|
|
|
NM_147127.5(EVC2):c.810G>A (p.Ser270=)
|
rs761317948
|
|
NM_147127.5(EVC2):c.810G>T (p.Ser270=)
|
rs761317948
|
|
NM_147127.5(EVC2):c.816+13T>C
|
|
|
NM_147127.5(EVC2):c.816+14T>A
|
|
|
NM_147127.5(EVC2):c.816+19T>C
|
|
|
NM_147127.5(EVC2):c.816+1G>T
|
rs1355905411
|
|
NM_147127.5(EVC2):c.816+2T>A
|
rs1294715119
|
|
NM_147127.5(EVC2):c.816+2T>C
|
rs1294715119
|
|
NM_147127.5(EVC2):c.816+8C>G
|
rs2151727996
|
|
NM_147127.5(EVC2):c.817-10C>A
|
rs750153523
|
|
NM_147127.5(EVC2):c.817-12T>C
|
|
|
NM_147127.5(EVC2):c.817-15T>G
|
|
|
NM_147127.5(EVC2):c.817-17C>T
|
|
|
NM_147127.5(EVC2):c.817-19T>C
|
|
|
NM_147127.5(EVC2):c.817-19_817-18del
|
|
|
NM_147127.5(EVC2):c.817-1G>T
|
|
|
NM_147127.5(EVC2):c.817-5T>A
|
|
|
NM_147127.5(EVC2):c.817-5T>C
|
rs2151724161
|
|
NM_147127.5(EVC2):c.817-6T>G
|
|
|
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
|
|
|
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter)
|
rs2151724149
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_147127.5(EVC2):c.826_827del (p.Gln276fs)
|
rs758841632
|
|
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
|
|
|
NM_147127.5(EVC2):c.829C>T (p.Leu277=)
|
rs2151724132
|
|
NM_147127.5(EVC2):c.831G>A (p.Leu277=)
|
rs376314429
|
|
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
|
|
|
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
|
|
|
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
|
|
|
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
|
|
|
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
|
|
|
NM_147127.5(EVC2):c.850del (p.Thr284fs)
|
rs886044525
|
|
NM_147127.5(EVC2):c.852A>C (p.Thr284=)
|
rs1444259253
|
|
NM_147127.5(EVC2):c.852A>G (p.Thr284=)
|
rs1444259253
|
|
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
|
|
|
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys)
|
rs144730069
|
|
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
|
|
|
NM_147127.5(EVC2):c.86del (p.Gly29fs)
|
|
|
NM_147127.5(EVC2):c.870+10A>G
|
rs779971622
|
|
NM_147127.5(EVC2):c.870+14C>G
|
|
|
NM_147127.5(EVC2):c.870+15A>G
|
|
|
NM_147127.5(EVC2):c.870+1G>A
|
rs2151724043
|
|
NM_147127.5(EVC2):c.870+20C>G
|
|
|
NM_147127.5(EVC2):c.870+7G>A
|
|
|
NM_147127.5(EVC2):c.871-10G>A
|
|
|
NM_147127.5(EVC2):c.871-10G>T
|
rs1474138185
|
|
NM_147127.5(EVC2):c.871-19T>A
|
|
|
NM_147127.5(EVC2):c.871-2_894del
|
rs755789146
|
|
NM_147127.5(EVC2):c.871-4A>G
|
|
|
NM_147127.5(EVC2):c.871-6C>T
|
|
|
NM_147127.5(EVC2):c.871-9T>C
|
|
|
NM_147127.5(EVC2):c.876_892dup (p.His298fs)
|
rs2108900159
|
|
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
|
|
|
NM_147127.5(EVC2):c.879G>T (p.Pro293=)
|
rs150699446
|
|
NM_147127.5(EVC2):c.87C>T (p.Gly29=)
|
rs2151750094
|
|
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
|
|
|
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
|
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|
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
|
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|
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=)
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|
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
|
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|
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
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|
NM_147127.5(EVC2):c.939C>T (p.Thr313=)
|
rs1322685892
|
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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)
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|
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NM_147127.5(EVC2):c.951C>T (p.Leu317=)
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NM_147127.5(EVC2):c.954C>T (p.Phe318=)
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NM_147127.5(EVC2):c.957C>G (p.Leu319=)
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NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
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NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
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NM_147127.5(EVC2):c.966C>T (p.Arg322=)
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NM_147127.5(EVC2):c.96C>T (p.Gly32=)
|
rs1722358000
|
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NM_147127.5(EVC2):c.981G>A (p.Lys327=)
|
rs2108899931
|
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NM_147127.5(EVC2):c.984A>G (p.Gly328=)
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|
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NM_147127.5(EVC2):c.987C>T (p.Asn329=)
|
rs2108899904
|
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NM_147127.5(EVC2):c.993C>T (p.Leu331=)
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NM_147127.5(EVC2):c.996C>T (p.Thr332=)
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NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del)
|
rs1445771901
|
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NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
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NM_153717.3(EVC):c.1005C>T (p.Ser335=)
|
rs895165309
|
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NM_153717.3(EVC):c.1008C>T (p.Ser336=)
|
|
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NM_153717.3(EVC):c.1017C>T (p.Ala339=)
|
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NM_153717.3(EVC):c.1018C>A (p.Arg340=)
|
rs121908425
|
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NM_153717.3(EVC):c.1020A>G (p.Arg340=)
|
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|
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
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NM_153717.3(EVC):c.102G>C (p.Leu34=)
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NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
|
|
|
NM_153717.3(EVC):c.1035T>C (p.Thr345=)
|
rs2152045460
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
NM_153717.3(EVC):c.1041G>A (p.Thr347=)
|
rs148418233
|
|
NM_153717.3(EVC):c.1041G>T (p.Thr347=)
|
rs148418233
|
|
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs)
|
rs745627738
|
|
NM_153717.3(EVC):c.104G>A (p.Gly35Asp)
|
rs1560259105
|
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NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
|
rs1729670311
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
|
|
|
NM_153717.3(EVC):c.105C>T (p.Gly35=)
|
rs745558003
|
|
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
|
|
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NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
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NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
|
|
|
NM_153717.3(EVC):c.1086del (p.Glu362fs)
|
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NM_153717.3(EVC):c.1089G>A (p.Leu363=)
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NM_153717.3(EVC):c.1089G>C (p.Leu363=)
|
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NM_153717.3(EVC):c.1098+12G>C
|
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NM_153717.3(EVC):c.1098+13G>C
|
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NM_153717.3(EVC):c.1098+16G>A
|
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NM_153717.3(EVC):c.1098+16G>T
|
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NM_153717.3(EVC):c.1098+17C>T
|
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NM_153717.3(EVC):c.1098+18G>T
|
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NM_153717.3(EVC):c.1098+1G>A
|
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NM_153717.3(EVC):c.1098+20G>C
|
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NM_153717.3(EVC):c.1098+20G>T
|
|
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NM_153717.3(EVC):c.1098+8T>C
|
|
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NM_153717.3(EVC):c.1099-10C>A
|
rs1465530933
|
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NM_153717.3(EVC):c.1099-14G>A
|
|
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NM_153717.3(EVC):c.1099-1G>A
|
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|
NM_153717.3(EVC):c.1099-20C>T
|
|
|
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC
|
rs2152075906
|
|
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
|
|
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NM_153717.3(EVC):c.1099-2A>C
|
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NM_153717.3(EVC):c.1099-4G>A
|
rs2152076013
|
|
NM_153717.3(EVC):c.1099-5T>C
|
rs2152076005
|
|
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
|
|
|
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
|
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NM_153717.3(EVC):c.1114del (p.Thr372fs)
|
|
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NM_153717.3(EVC):c.1116G>A (p.Thr372=)
|
rs781636545
|
|
NM_153717.3(EVC):c.1119G>A (p.Met373Ile)
|
rs1397539769
|
|
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
|
|
|
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
|
|
|
NM_153717.3(EVC):c.1136_1563+515del
|
|
|
NM_153717.3(EVC):c.1141G>A (p.Val381Met)
|
rs2152076238
|
|
NM_153717.3(EVC):c.1143G>C (p.Val381=)
|
rs2152076257
|
|
NM_153717.3(EVC):c.1143G>T (p.Val381=)
|
|
|
NM_153717.3(EVC):c.114C>T (p.Leu38=)
|
rs1167442380
|
|
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1])
|
rs1164121689
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1159C>T (p.Leu387=)
|
rs1577439719
|
|
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
|
|
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NM_153717.3(EVC):c.1168C>T (p.Gln390Ter)
|
rs1560340266
|
|
NM_153717.3(EVC):c.1176G>A (p.Glu392=)
|
rs752626166
|
|
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
|
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NM_153717.3(EVC):c.117C>A (p.Gly39=)
|
|
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NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
|
|
|
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
|
|
|
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
|
|
|
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
|
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NM_153717.3(EVC):c.1197C>T (p.Ala399=)
|
rs2152076403
|
|
NM_153717.3(EVC):c.1200C>A (p.Ile400=)
|
rs750816331
|
|
NM_153717.3(EVC):c.1203C>T (p.Ser401=)
|
rs867155796
|
|
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
|
|
|
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
|
|
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NM_153717.3(EVC):c.120C>A (p.Leu40=)
|
rs1407286365
|
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NM_153717.3(EVC):c.120C>G (p.Leu40=)
|
|
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NM_153717.3(EVC):c.120C>T (p.Leu40=)
|
|
|
NM_153717.3(EVC):c.1210C>T (p.Leu404=)
|
rs2152076460
|
|
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
|
|
|
NM_153717.3(EVC):c.1218G>C (p.Leu406=)
|
rs2152076473
|
|
NM_153717.3(EVC):c.1218G>T (p.Leu406=)
|
rs2152076473
|
|
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
|
rs1577440027
|
|
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter)
|
rs2152076522
|
|
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
|
|
|
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
|
|
|
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
|
|
|
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
|
|
|
NM_153717.3(EVC):c.123C>A (p.Gly41=)
|
|
|
NM_153717.3(EVC):c.1246C>A (p.Arg416=)
|
rs113986714
|
|
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)
|
rs1730623318
|
|
NM_153717.3(EVC):c.1261C>T (p.Leu421=)
|
rs775388162
|
|
NM_153717.3(EVC):c.1266C>G (p.Leu422=)
|
rs2152076665
|
|
NM_153717.3(EVC):c.1266C>T (p.Leu422=)
|
rs2152076665
|
|
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
|
|
|
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
|
|
|
NM_153717.3(EVC):c.126C>G (p.Leu42=)
|
|
|
NM_153717.3(EVC):c.126C>T (p.Leu42=)
|
|
|
NM_153717.3(EVC):c.1287C>T (p.Phe429=)
|
rs2152076737
|
|
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer)
|
rs2152076745
|
|
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
|
|
|
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
|
|
|
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
|
|
|
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
|
|
|
NM_153717.3(EVC):c.1312del (p.Arg438fs)
|
rs1560340993
|
|
NM_153717.3(EVC):c.1315+11G>C
|
|
|
NM_153717.3(EVC):c.1315+14A>G
|
|
|
NM_153717.3(EVC):c.1315+16_1315+27del
|
|
|
NM_153717.3(EVC):c.1315+8G>T
|
|
|
NM_153717.3(EVC):c.1316-14T>C
|
|
|
NM_153717.3(EVC):c.1316-20G>A
|
|
|
NM_153717.3(EVC):c.1316-20G>T
|
|
|
NM_153717.3(EVC):c.1316-4C>T
|
|
|
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
|
|
|
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)
|
rs1730760070
|
|
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_153717.3(EVC):c.1344C>T (p.Val448=)
|
rs2152081344
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
|
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1379C>T (p.Ala460Val)
|
rs1309149029
|
|
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
|
|
|
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
|
|
|
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
|
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|
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
|
|
|
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)
|
rs1553876034
|
|
NM_153717.3(EVC):c.1407A>G (p.Glu469=)
|
rs755691949
|
|
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
|
|
|
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
|
|
|
NM_153717.3(EVC):c.1425T>C (p.Ala475=)
|
rs2152081868
|
|
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
|
|
|
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
|
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|
NM_153717.3(EVC):c.1437G>A (p.Pro479=)
|
rs112861104
|
|
NM_153717.3(EVC):c.1437G>T (p.Pro479=)
|
rs112861104
|
|
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
|
|
|
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
|
|
|
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
|
|
|
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
|
|
|
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
|
|
|
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
|
|
|
NM_153717.3(EVC):c.1464+12C>A
|
|
|
NM_153717.3(EVC):c.1464+12C>G
|
rs753296851
|
|
NM_153717.3(EVC):c.1464+19C>T
|
|
|
NM_153717.3(EVC):c.1464+7C>G
|
|
|
NM_153717.3(EVC):c.1464+8A>T
|
rs116236414
|
|
NM_153717.3(EVC):c.1465-12T>G
|
|
|
NM_153717.3(EVC):c.1465-13G>A
|
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|
NM_153717.3(EVC):c.1465-15_1465-14del
|
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|
NM_153717.3(EVC):c.1465-15_1465-14dup
|
|
|
NM_153717.3(EVC):c.1465-18C>T
|
|
|
NM_153717.3(EVC):c.1465-4A>G
|
|
|
NM_153717.3(EVC):c.1465-5C>A
|
|
|
NM_153717.3(EVC):c.1465-7C>T
|
|
|
NM_153717.3(EVC):c.1465-8C>T
|
|
|
NM_153717.3(EVC):c.1465-9T>C
|
|
|
NM_153717.3(EVC):c.1473T>C (p.His491=)
|
|
|
NM_153717.3(EVC):c.1479C>T (p.Val493=)
|
|
|
NM_153717.3(EVC):c.147C>A (p.Arg49=)
|
rs1723020172
|
|
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
|
|
|
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
|
|
|
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
|
rs1577453796
|
|
NM_153717.3(EVC):c.1494del (p.Arg498fs)
|
rs2152094799
|
|
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
|
|
|
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
|
|
|
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter)
|
rs373088008
|
|
NM_153717.3(EVC):c.150G>C (p.Ala50=)
|
rs1257185745
|
|
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
|
|
|
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
|
|
|
NM_153717.3(EVC):c.1524G>A (p.Glu508=)
|
rs2152094941
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.1528G>C (p.Val510Leu)
|
rs143971158
|
|
NM_153717.3(EVC):c.1531A>C (p.Arg511=)
|
rs2152094988
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.153_174+42del
|
rs1723019796
|
|
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
|
|
|
NM_153717.3(EVC):c.155del (p.Arg52fs)
|
rs1439712140
|
|
NM_153717.3(EVC):c.1563+10C>T
|
rs2152095141
|
|
NM_153717.3(EVC):c.1563+13T>C
|
|
|
NM_153717.3(EVC):c.1563+14G>A
|
|
|
NM_153717.3(EVC):c.1563+15T>G
|
|
|
NM_153717.3(EVC):c.1563+16G>A
|
|
|
NM_153717.3(EVC):c.1563+7G>A
|
|
|
NM_153717.3(EVC):c.1564-10T>G
|
|
|
NM_153717.3(EVC):c.1564-15G>T
|
|
|
NM_153717.3(EVC):c.1564-19C>G
|
|
|
NM_153717.3(EVC):c.1564-7G>C
|
|
|
NM_153717.3(EVC):c.1564-7G>T
|
|
|
NM_153717.3(EVC):c.1564-9C>T
|
rs1361893356
|
|
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
|
|
|
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
|
|
|
NM_153717.3(EVC):c.1572C>T (p.Tyr524=)
|
rs1735952327
|
|
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
|
|
|
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
|
|
|
NM_153717.3(EVC):c.1593C>T (p.Phe531=)
|
rs771775185
|
|
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
|
rs753720935
|
|
NM_153717.3(EVC):c.1605G>A (p.Val535=)
|
|
|
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
|
|
|
NM_153717.3(EVC):c.1611C>T (p.Ala537=)
|
rs765193502
|
|
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
|
|
|
NM_153717.3(EVC):c.1618del (p.Leu540fs)
|
|
|
NM_153717.3(EVC):c.1623G>A (p.Gln541=)
|
rs2152288778
|
|
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
|
|
|
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
|
|
|
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
|
|
|
NM_153717.3(EVC):c.1629C>G (p.Leu543=)
|
rs1735963741
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
|
|
|
NM_153717.3(EVC):c.1635C>T (p.Gly545=)
|
rs781699320
|
|
NM_153717.3(EVC):c.1641T>C (p.Thr547=)
|
rs2152288859
|
|
NM_153717.3(EVC):c.1647C>A (p.Leu549=)
|
rs756674302
|
|
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
|
|
|
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
|
|
|
NM_153717.3(EVC):c.1650C>A (p.Pro550=)
|
rs1187336928
|
|
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)
|
rs371682994
|
|
NM_153717.3(EVC):c.1652del (p.Pro551fs)
|
rs1312383000
|
|
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
|
|
|
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
|
|
|
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
|
|
|
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
|
|
|
NM_153717.3(EVC):c.1662T>C (p.Cys554=)
|
rs2152288989
|
|
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
|
|
|
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
|
|
|
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1683C>A (p.Val561=)
|
|
|
NM_153717.3(EVC):c.1683C>G (p.Val561=)
|
rs913909906
|
|
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter)
|
rs751772225
|
|
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys)
|
rs539010490
|
|
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter)
|
rs539010490
|
|
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
|
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
NM_153717.3(EVC):c.1698C>G (p.Ala566=)
|
rs911132556
|
|
NM_153717.3(EVC):c.16del (p.Ala6fs)
|
rs2151766718
|
|
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly)
|
rs141820870
|
|
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
|
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu)
|
rs1383180
|
|
NM_153717.3(EVC):c.1737G>A (p.Gln579=)
|
rs768788576
|
|
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
|
|
|
NM_153717.3(EVC):c.174+11C>G
|
|
|
NM_153717.3(EVC):c.174+12G>A
|
|
|
NM_153717.3(EVC):c.174+14G>A
|
|
|
NM_153717.3(EVC):c.174+16_174+30del
|
|
|
NM_153717.3(EVC):c.174+1G>T
|
rs2151768710
|
|
NM_153717.3(EVC):c.174+7C>G
|
|
|
NM_153717.3(EVC):c.174+7C>T
|
rs1577297959
|
|
NM_153717.3(EVC):c.174+8G>C
|
|
|
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
|
|
|
NM_153717.3(EVC):c.1746C>A (p.Leu582=)
|
rs1029833383
|
|
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs)
|
rs2152289369
|
|
NM_153717.3(EVC):c.175-19C>G
|
|
|
NM_153717.3(EVC):c.175-19C>T
|
|
|
NM_153717.3(EVC):c.175-20T>C
|
|
|
NM_153717.3(EVC):c.175-9G>C
|
rs753317536
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
|
|
|
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
|
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
NM_153717.3(EVC):c.1776+2T>C
|
|
|
NM_153717.3(EVC):c.1776+7G>A
|
rs750719632
|
|
NM_153717.3(EVC):c.1776+7del
|
rs540001390
|
|
NM_153717.3(EVC):c.1776+8C>G
|
rs761163369
|
|
NM_153717.3(EVC):c.1776+8C>T
|
|
|
NM_153717.3(EVC):c.1776+9A>G
|
rs2152289531
|
|
NM_153717.3(EVC):c.1777-13G>C
|
|
|
NM_153717.3(EVC):c.1777-15C>G
|
|
|
NM_153717.3(EVC):c.1777-17C>G
|
|
|
NM_153717.3(EVC):c.1777-19C>T
|
|
|
NM_153717.3(EVC):c.1777-2A>C
|
|
|
NM_153717.3(EVC):c.1777-6G>A
|
rs565093715
|
|
NM_153717.3(EVC):c.1777-9C>G
|
|
|
NM_153717.3(EVC):c.1777-9C>T
|
rs113468936
|
|
NM_153717.3(EVC):c.1779G>A (p.Val593=)
|
|
|
NM_153717.3(EVC):c.1783_1886+40del
|
rs2152326431
|
|
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
|
|
|
NM_153717.3(EVC):c.1788G>A (p.Glu596=)
|
rs2152326451
|
|
NM_153717.3(EVC):c.1791G>A (p.Glu597=)
|
rs1577599969
|
|
NM_153717.3(EVC):c.1800G>C (p.Leu600=)
|
rs1713204688
|
|
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
|
|
|
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe)
|
rs1713205522
|
|
NM_153717.3(EVC):c.1803C>T (p.Ser601=)
|
rs2152326514
|
|
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
|
|
|
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
|
|
|
NM_153717.3(EVC):c.1818_1821del (p.His607fs)
|
rs2152326544
|
|
NM_153717.3(EVC):c.1821C>T (p.His607=)
|
rs779056864
|
|
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
|
|
|
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
|
|
|
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
|
|
|
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
|
|
|
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
|
|
|
NM_153717.3(EVC):c.1851C>T (p.Arg617=)
|
rs967986192
|
|
NM_153717.3(EVC):c.1854C>A (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
|
|
|
NM_153717.3(EVC):c.1857C>G (p.Val619=)
|
rs2152326683
|
|
NM_153717.3(EVC):c.1857C>T (p.Val619=)
|
rs2152326683
|
|
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
|
rs1329006994
|
|
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
|
|
|
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs)
|
rs2152326770
|
|
NM_153717.3(EVC):c.1886+11C>T
|
|
|
NM_153717.3(EVC):c.1886+13C>T
|
|
|
NM_153717.3(EVC):c.1886+16T>C
|
|
|
NM_153717.3(EVC):c.1886+17G>C
|
|
|
NM_153717.3(EVC):c.1886+1G>C
|
rs753679094
|
|
NM_153717.3(EVC):c.1886+2T>G
|
rs1713228964
|
|
NM_153717.3(EVC):c.1886+5G>A
|
rs794726665
|
|
NM_153717.3(EVC):c.1886+7A>G
|
rs2152326793
|
|
NM_153717.3(EVC):c.1887-19T>G
|
|
|
NM_153717.3(EVC):c.1887-2A>T
|
|
|
NM_153717.3(EVC):c.1887-4A>C
|
rs2152340153
|
|
NM_153717.3(EVC):c.1887-5C>T
|
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1890C>T (p.Ser630=)
|
rs2152340181
|
|
NM_153717.3(EVC):c.1893G>A (p.Thr631=)
|
rs1017858503
|
|
NM_153717.3(EVC):c.1893G>T (p.Thr631=)
|
rs1017858503
|
|
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
|
|
|
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
|
|
|
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro)
|
rs535632933
|
|
NM_153717.3(EVC):c.1896G>C (p.Arg632=)
|
rs758327867
|
|
NM_153717.3(EVC):c.1900del (p.Val634fs)
|
|
|
NM_153717.3(EVC):c.1905G>T (p.Leu635=)
|
rs777640312
|
|
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
|
rs757227773
|
|
NM_153717.3(EVC):c.1917C>T (p.Asp639=)
|
rs1242667817
|
|
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
|
|
|
NM_153717.3(EVC):c.1926G>A (p.Leu642=)
|
rs1191617444
|
|
NM_153717.3(EVC):c.1935C>T (p.Ala645=)
|
rs1412137397
|
|
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
|
|
|
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
|
|
|
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
|
|
|
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
|
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)
|
rs35401386
|
|
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
|
|
|
NM_153717.3(EVC):c.1944G>A (p.Arg648=)
|
rs1577616662
|
|
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
|
|
|
NM_153717.3(EVC):c.195G>T (p.Leu65=)
|
|
|
NM_153717.3(EVC):c.1965C>A (p.Ala655=)
|
rs757251724
|
|
NM_153717.3(EVC):c.1966C>T (p.Leu656=)
|
rs2152340488
|
|
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
|
|
|
NM_153717.3(EVC):c.1971C>T (p.Ala657=)
|
rs2152340517
|
|
NM_153717.3(EVC):c.1971del (p.Thr658fs)
|
rs2152340509
|
|
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser)
|
rs1577616840
|
|
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
|
|
|
NM_153717.3(EVC):c.198C>T (p.Leu66=)
|
|
|
NM_153717.3(EVC):c.1995G>T (p.Ser665=)
|
rs142897994
|
|
NM_153717.3(EVC):c.1998G>A (p.Gly666=)
|
rs772759204
|
|
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
|
|
|
NM_153717.3(EVC):c.1A>G (p.Met1Val)
|
|
|
NM_153717.3(EVC):c.2004G>A (p.Lys668=)
|
rs759187395
|
|
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
|
|
|
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
|
|
|
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
|
|
|
NM_153717.3(EVC):c.2023C>A (p.Arg675=)
|
rs372267517
|
|
NM_153717.3(EVC):c.2025G>T (p.Arg675=)
|
rs1714120141
|
|
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
|
|
|
NM_153717.3(EVC):c.203del (p.Asn68fs)
|
rs1560274093
|
|
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
|
|
|
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
|
|
|
NM_153717.3(EVC):c.205T>C (p.Leu69=)
|
|
|
NM_153717.3(EVC):c.2067C>T (p.Asp689=)
|
rs768403488
|
|
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
|
|
|
NM_153717.3(EVC):c.2076G>A (p.Gln692=)
|
rs1714131544
|
|
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
|
|
|
NM_153717.3(EVC):c.207G>A (p.Leu69=)
|
rs2151841946
|
|
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
|
|
|
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
|
|
|
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
|
|
|
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
|
|
|
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
|
|
|
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro)
|
rs2152340934
|
|
NM_153717.3(EVC):c.2097+10G>T
|
|
|
NM_153717.3(EVC):c.2097+12A>G
|
rs112766640
|
|
NM_153717.3(EVC):c.2097+1G>A
|
|
|
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368
|
|
NM_153717.3(EVC):c.2097+2del
|
rs2152340942
|
|
NM_153717.3(EVC):c.2098-13C>G
|
|
|
NM_153717.3(EVC):c.2098-20C>T
|
|
|
NM_153717.3(EVC):c.2098-2A>G
|
rs1714398710
|
|
NM_153717.3(EVC):c.2098-5C>G
|
rs747808287
|
|
NM_153717.3(EVC):c.2098-7C>G
|
rs1448028337
|
|
NM_153717.3(EVC):c.2098-8C>T
|
rs1560427583
|
|
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)
|
rs545087909
|
|
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
|
|
|
NM_153717.3(EVC):c.2110C>T (p.Leu704=)
|
rs1714403171
|
|
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
|
|
|
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
|
|
|
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
|
|
|
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
|
|
|
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
|
|
|
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln)
|
rs1430134537
|
|
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
|
|
|
NM_153717.3(EVC):c.213T>C (p.Ser71=)
|
|
|
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs)
|
rs2152345583
|
|
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)
|
rs1714412021
|
|
NM_153717.3(EVC):c.2152C>A (p.Arg718=)
|
rs778287269
|
|
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
|
|
|
NM_153717.3(EVC):c.2154G>A (p.Arg718=)
|
rs1714415040
|
|
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
|
|
|
NM_153717.3(EVC):c.2155C>T (p.Leu719=)
|
rs1236823435
|
|
NM_153717.3(EVC):c.2157G>A (p.Leu719=)
|
rs1024015517
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
|
|
|
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
|
|
|
NM_153717.3(EVC):c.218C>T (p.Ala73Val)
|
rs1361442490
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.2196G>A (p.Val732=)
|
|
|
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
|
|
|
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
|
|
|
NM_153717.3(EVC):c.219G>T (p.Ala73=)
|
|
|
NM_153717.3(EVC):c.21C>G (p.Ala7=)
|
|
|
NM_153717.3(EVC):c.2208G>A (p.Leu736=)
|
rs2152345788
|
|
NM_153717.3(EVC):c.2217C>T (p.His739=)
|
rs2152345808
|
|
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
|
|
|
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
|
|
|
NM_153717.3(EVC):c.222G>A (p.Gln74=)
|
|
|
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
|
|
|
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
|
|
|
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
|
|
|
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
|
|
|
NM_153717.3(EVC):c.2256A>G (p.Ala752=)
|
rs746682279
|
|
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
|
|
|
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
|
|
|
NM_153717.3(EVC):c.225C>A (p.Thr75=)
|
|
|
NM_153717.3(EVC):c.225C>G (p.Thr75=)
|
|
|
NM_153717.3(EVC):c.2262T>C (p.Asn754=)
|
rs1714441484
|
|
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
|
|
|
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
|
|
|
NM_153717.3(EVC):c.2271C>A (p.Thr757=)
|
rs918804667
|
|
NM_153717.3(EVC):c.2274G>A (p.Lys758=)
|
rs199611644
|
|
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
|
|
|
NM_153717.3(EVC):c.2289C>T (p.Asp763=)
|
rs2152346031
|
|
NM_153717.3(EVC):c.228C>G (p.Pro76=)
|
|
|
NM_153717.3(EVC):c.2295T>C (p.Asp765=)
|
rs2152346059
|
|
NM_153717.3(EVC):c.2304+10G>C
|
|
|
NM_153717.3(EVC):c.2304+10G>T
|
|
|
NM_153717.3(EVC):c.2304+15_2304+16del
|
|
|
NM_153717.3(EVC):c.2304+19C>T
|
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2304+8C>G
|
|
|
NM_153717.3(EVC):c.2304+9T>A
|
rs2152346132
|
|
NM_153717.3(EVC):c.2305-13T>C
|
|
|
NM_153717.3(EVC):c.2305-15C>T
|
|
|
NM_153717.3(EVC):c.2305-17T>C
|
|
|
NM_153717.3(EVC):c.2305-19C>A
|
|
|
NM_153717.3(EVC):c.2305-19C>T
|
|
|
NM_153717.3(EVC):c.2305-8_2305-7delinsCT
|
rs2152361700
|
|
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
|
|
|
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
|
|
|
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
|
|
|
NM_153717.3(EVC):c.2311C>T (p.Leu771=)
|
rs763546632
|
|
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
|
|
|
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
|
|
|
NM_153717.3(EVC):c.2322G>A (p.Ala774=)
|
rs150373930
|
|
NM_153717.3(EVC):c.2328G>C (p.Val776=)
|
rs913233513
|
|
NM_153717.3(EVC):c.2335G>A (p.Val779Ile)
|
rs376396220
|
|
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
|
rs773252806
|
|
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
|
|
|
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
|
|
|
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
|
|
|
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser)
|
rs149537641
|
|
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
|
|
|
NM_153717.3(EVC):c.2361C>T (p.Ser787=)
|
rs1412709981
|
|
NM_153717.3(EVC):c.2365del (p.Leu789fs)
|
|
|
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
|
|
|
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
|
|
|
NM_153717.3(EVC):c.2370G>A (p.Val790=)
|
|
|
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
|
|
|
NM_153717.3(EVC):c.2376G>C (p.Ala792=)
|
rs1005244629
|
|
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
|
|
|
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
|
|
|
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
|
|
|
NM_153717.3(EVC):c.2391C>T (p.Ile797=)
|
rs202236029
|
|
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
|
|
|
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
|
|
|
NM_153717.3(EVC):c.241dup (p.Ser81fs)
|
|
|
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
|
|
|
NM_153717.3(EVC):c.2434C>T (p.Leu812=)
|
rs1161329338
|
|
NM_153717.3(EVC):c.243C>G (p.Ser81=)
|
|
|
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
|
|
|
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
|
|
|
NM_153717.3(EVC):c.2449+10C>A
|
rs758387379
|
|
NM_153717.3(EVC):c.2449+10C>G
|
|
|
NM_153717.3(EVC):c.2449+10C>T
|
rs758387379
|
|
NM_153717.3(EVC):c.2449+13C>G
|
|
|
NM_153717.3(EVC):c.2449+13C>T
|
|
|
NM_153717.3(EVC):c.2449+14C>A
|
rs374386522
|
|
NM_153717.3(EVC):c.2449+14C>G
|
rs374386522
|
|
NM_153717.3(EVC):c.2449+14C>T
|
rs374386522
|
|
NM_153717.3(EVC):c.2449+15C>G
|
|
|
NM_153717.3(EVC):c.2449+15_2449+16insA
|
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+15dup
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+16del
|
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2449+2T>C
|
|
|
NM_153717.3(EVC):c.2449+5G>A
|
|
|
NM_153717.3(EVC):c.2449+9C>A
|
|
|
NM_153717.3(EVC):c.2450-16G>A
|
|
|
NM_153717.3(EVC):c.2450-18C>T
|
|
|
NM_153717.3(EVC):c.2450-4C>T
|
rs1273594861
|
|
NM_153717.3(EVC):c.2450-7_2450-5dup
|
rs2152375058
|
|
NM_153717.3(EVC):c.2450-8T>C
|
rs1715583083
|
|
NM_153717.3(EVC):c.2454G>A (p.Glu818=)
|
rs775144960
|
|
NM_153717.3(EVC):c.2457del (p.Met820fs)
|
rs794726666
|
|
NM_153717.3(EVC):c.2463A>G (p.Glu821=)
|
rs762865760
|
|
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
|
|
|
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
|
|
|
NM_153717.3(EVC):c.2484G>A (p.Lys828=)
|
rs2152375180
|
|
NM_153717.3(EVC):c.2487A>G (p.Gln829=)
|
rs1439220731
|
|
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter)
|
rs2152375194
|
|
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
|
|
|
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
|
|
|
NM_153717.3(EVC):c.2499C>T (p.Asn833=)
|
rs2152375210
|
|
NM_153717.3(EVC):c.24C>T (p.Cys8=)
|
|
|
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer)
|
rs1553857828
|
|
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
|
|
|
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
|
|
|
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
|
|
|
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
|
|
|
NM_153717.3(EVC):c.2520G>C (p.Thr840=)
|
rs187406722
|
|
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
|
|
|
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser)
|
rs1446692986
|
|
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
|
|
|
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
|
|
|
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
|
|
|
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter)
|
rs561852174
|
|
NM_153717.3(EVC):c.2547G>A (p.Gln849=)
|
rs2152375378
|
|
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
|
|
|
NM_153717.3(EVC):c.2550G>T (p.Ala850=)
|
rs754053651
|
|
NM_153717.3(EVC):c.2553C>T (p.Val851=)
|
rs2152375406
|
|
NM_153717.3(EVC):c.2556C>T (p.His852=)
|
|
|
NM_153717.3(EVC):c.2561+10C>A
|
|
|
NM_153717.3(EVC):c.2561+11A>C
|
|
|
NM_153717.3(EVC):c.2561+12A>C
|
|
|
NM_153717.3(EVC):c.2561+12_2561+23dup
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+13C>A
|
|
|
NM_153717.3(EVC):c.2561+18G>A
|
|
|
NM_153717.3(EVC):c.2561+1dup
|
rs2152375437
|
|
NM_153717.3(EVC):c.2561+8C>T
|
|
|
NM_153717.3(EVC):c.2562-13_2562-12delinsCC
|
rs2152387572
|
|
NM_153717.3(EVC):c.2562-18del
|
|
|
NM_153717.3(EVC):c.2562-19C>G
|
|
|
NM_153717.3(EVC):c.2562-20G>T
|
|
|
NM_153717.3(EVC):c.2562-3_2584del
|
rs1577663625
|
|
NM_153717.3(EVC):c.2562-3del
|
|
|
NM_153717.3(EVC):c.2562-4C>A
|
rs60082311
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
NM_153717.3(EVC):c.2562-4C>T
|
rs60082311
|
|
NM_153717.3(EVC):c.2562-5C>A
|
rs747812027
|
|
NM_153717.3(EVC):c.2562-6C>T
|
rs1480753304
|
|
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
|
|
|
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
|
|
|
NM_153717.3(EVC):c.2580G>A (p.Lys860=)
|
rs1264987350
|
|
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
|
|
|
NM_153717.3(EVC):c.2592C>G (p.Ala864=)
|
rs2152387719
|
|
NM_153717.3(EVC):c.25A>T (p.Lys9Ter)
|
rs1425513399
|
|
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
|
|
|
NM_153717.3(EVC):c.2607C>T (p.His869=)
|
rs774624157
|
|
NM_153717.3(EVC):c.2610G>A (p.Gln870=)
|
rs2152387774
|
|
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
|
|
|
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
|
|
|
NM_153717.3(EVC):c.2619T>A (p.Arg873=)
|
rs1716320466
|
|
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
|
|
|
NM_153717.3(EVC):c.2622G>T (p.Leu874=)
|
rs1399378301
|
|
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
|
|
|
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer)
|
rs2152387847
|
|
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
|
|
|
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
|
|
|
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
|
|
|
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
|
|
|
NM_153717.3(EVC):c.264A>G (p.Arg88=)
|
rs1176423250
|
|
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
|
|
|
NM_153717.3(EVC):c.2664A>G (p.Glu888=)
|
rs1161036004
|
|
NM_153717.3(EVC):c.2676G>A (p.Glu892=)
|
rs761201243
|
|
NM_153717.3(EVC):c.2677_2688+7del
|
rs2152387946
|
|
NM_153717.3(EVC):c.267_274del (p.Glu89fs)
|
rs2151842413
|
|
NM_153717.3(EVC):c.2685A>G (p.Leu895=)
|
rs2152387981
|
|
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
|
|
|
NM_153717.3(EVC):c.2688+11C>A
|
|
|
NM_153717.3(EVC):c.2688+11C>T
|
|
|
NM_153717.3(EVC):c.2688+19G>A
|
|
|
NM_153717.3(EVC):c.2688+1G>C
|
rs1553895776
|
|
NM_153717.3(EVC):c.2688+2T>G
|
|
|
NM_153717.3(EVC):c.2688+8_2688+13del
|
rs2152388021
|
|
NM_153717.3(EVC):c.2689-11_2689-8del
|
|
|
NM_153717.3(EVC):c.2689-16T>C
|
|
|
NM_153717.3(EVC):c.2689-19C>T
|
|
|
NM_153717.3(EVC):c.2689-20C>A
|
|
|
NM_153717.3(EVC):c.2689-8C>G
|
|
|
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter)
|
rs1039706882
|
|
NM_153717.3(EVC):c.2705del (p.Phe902fs)
|
rs2152391901
|
|
NM_153717.3(EVC):c.2709C>A (p.Ile903=)
|
rs774968451
|
|
NM_153717.3(EVC):c.2709C>T (p.Ile903=)
|
rs774968451
|
|
NM_153717.3(EVC):c.270G>A (p.Val90=)
|
|
|
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
|
|
|
NM_153717.3(EVC):c.2733A>C (p.Arg911=)
|
rs1478690927
|
|
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
|
|
|
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
|
|
|
NM_153717.3(EVC):c.2739C>G (p.Pro913=)
|
rs907113908
|
|
NM_153717.3(EVC):c.2739C>T (p.Pro913=)
|
rs907113908
|
|
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
|
|
|
NM_153717.3(EVC):c.2757G>T (p.Leu919=)
|
rs1219650896
|
|
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
|
|
|
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
|
|
|
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
|
|
|
NM_153717.3(EVC):c.2782+12A>G
|
|
|
NM_153717.3(EVC):c.2782+13T>A
|
rs2152392158
|
|
NM_153717.3(EVC):c.2782+15C>T
|
|
|
NM_153717.3(EVC):c.2782+15_2782+18dup
|
|
|
NM_153717.3(EVC):c.2782+19A>T
|
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.2782+7C>A
|
rs1241416600
|
|
NM_153717.3(EVC):c.2782+8A>G
|
rs760124824
|
|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
NM_153717.3(EVC):c.2783-11G>A
|
|
|
NM_153717.3(EVC):c.2783-11del
|
|
|
NM_153717.3(EVC):c.2783-3C>A
|
|
|
NM_153717.3(EVC):c.2783-4A>G
|
|
|
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
|
|
|
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
|
|
|
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
|
|
|
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
|
|
|
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
|
|
|
NM_153717.3(EVC):c.279G>C (p.Ser93=)
|
|
|
NM_153717.3(EVC):c.27G>A (p.Lys9=)
|
|
|
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
|
|
|
NM_153717.3(EVC):c.2817G>T (p.Leu939=)
|
rs1716697966
|
|
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
|
|
|
NM_153717.3(EVC):c.2835C>T (p.Asp945=)
|
rs2152394497
|
|
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
|
|
|
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
|
|
|
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
|
|
|
NM_153717.3(EVC):c.2842del (p.Val948fs)
|
|
|
NM_153717.3(EVC):c.2844G>T (p.Val948=)
|
|
|
NM_153717.3(EVC):c.2853T>C (p.Asn951=)
|
rs371561252
|
|
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
|
|
|
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
|
|
|
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
|
|
|
NM_153717.3(EVC):c.2862T>A (p.Leu954=)
|
rs2152394578
|
|
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser)
|
rs2152394584
|
|
NM_153717.3(EVC):c.2865C>T (p.Ala955=)
|
rs1333691963
|
|
NM_153717.3(EVC):c.286A>T (p.Lys96Ter)
|
rs2151842550
|
|
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala)
|
rs2152394644
|
|
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)
|
rs780548102
|
|
NM_153717.3(EVC):c.2883A>G (p.Ser961=)
|
rs1248488328
|
|
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
|
|
|
NM_153717.3(EVC):c.2889A>G (p.Ser963=)
|
rs2152394684
|
|
NM_153717.3(EVC):c.288G>A (p.Lys96=)
|
rs1577324357
|
|
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
|
|
|
NM_153717.3(EVC):c.2894+11G>T
|
|
|
NM_153717.3(EVC):c.2894+12C>T
|
|
|
NM_153717.3(EVC):c.2894+14C>T
|
|
|
NM_153717.3(EVC):c.2894+15C>T
|
|
|
NM_153717.3(EVC):c.2894+16G>A
|
|
|
NM_153717.3(EVC):c.2894+18A>T
|
|
|
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
|
|
|
NM_153717.3(EVC):c.2894+4T>A
|
rs746636411
|
|
NM_153717.3(EVC):c.2894+7C>G
|
rs2152394737
|
|
NM_153717.3(EVC):c.2894+8T>C
|
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.2895-12C>G
|
|
|
NM_153717.3(EVC):c.2895-12_2895-10del
|
|
|
NM_153717.3(EVC):c.2895-16_2895-13del
|
rs773917688
|
|
NM_153717.3(EVC):c.2895-16del
|
rs761097524
|
|
NM_153717.3(EVC):c.2895-20C>A
|
|
|
NM_153717.3(EVC):c.2895-20C>T
|
|
|
NM_153717.3(EVC):c.2895-8_2895-4del
|
|
|
NM_153717.3(EVC):c.2898C>T (p.Ser966=)
|
rs1716824868
|
|
NM_153717.3(EVC):c.2913G>A (p.Gln971=)
|
rs370649784
|
|
NM_153717.3(EVC):c.2916A>G (p.Gln972=)
|
rs1285231247
|
|
NM_153717.3(EVC):c.2922T>C (p.Ser974=)
|
rs2152396440
|
|
NM_153717.3(EVC):c.2925A>G (p.Glu975=)
|
rs1399872123
|
|
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
|
|
|
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
|
|
|
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
|
|
|
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
|
|
|
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)
|
rs150173231
|
|
NM_153717.3(EVC):c.2934C>T (p.Asp978=)
|
rs1241792860
|
|
NM_153717.3(EVC):c.2946A>G (p.Ser982=)
|
rs1388651029
|
|
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
|
|
|
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg)
|
rs1716842535
|
|
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
|
|
|
NM_153717.3(EVC):c.2976G>A (p.Leu992=)
|
rs1577673719
|
|
NM_153717.3(EVC):c.2979G>A (p.Ter993=)
|
rs767957964
|
|
NM_153717.3(EVC):c.297T>G (p.Val99=)
|
|
|
NM_153717.3(EVC):c.2T>A (p.Met1Lys)
|
rs1553857801
|
|
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
|
|
|
NM_153717.3(EVC):c.300+14T>G
|
|
|
NM_153717.3(EVC):c.300+17T>G
|
|
|
NM_153717.3(EVC):c.300+19T>C
|
|
|
NM_153717.3(EVC):c.300+1G>T
|
|
|
NM_153717.3(EVC):c.300+20T>C
|
|
|
NM_153717.3(EVC):c.300+24_300+27del
|
|
|
NM_153717.3(EVC):c.300+3A>G
|
|
|
NM_153717.3(EVC):c.300+7T>A
|
|
|
NM_153717.3(EVC):c.301-10dup
|
|
|
NM_153717.3(EVC):c.301-13C>G
|
|
|
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577
|
|
NM_153717.3(EVC):c.301-7C>T
|
rs764925850
|
|
NM_153717.3(EVC):c.301-9C>G
|
rs1726395310
|
|
NM_153717.3(EVC):c.312G>T (p.Pro104=)
|
|
|
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
|
|
|
NM_153717.3(EVC):c.333A>G (p.Thr111=)
|
|
|
NM_153717.3(EVC):c.333A>T (p.Thr111=)
|
|
|
NM_153717.3(EVC):c.338dup (p.Ala114fs)
|
rs2151919221
|
|
NM_153717.3(EVC):c.34G>C (p.Ala12Pro)
|
rs1369066723
|
|
NM_153717.3(EVC):c.354A>G (p.Lys118=)
|
rs2151919308
|
|
NM_153717.3(EVC):c.360C>A (p.Ile120=)
|
rs2151919327
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.369del (p.Asn124fs)
|
|
|
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
|
|
|
NM_153717.3(EVC):c.37_38del (p.Arg13fs)
|
rs1722986802
|
|
NM_153717.3(EVC):c.384+10_384+12dup
|
rs2151919610
|
|
NM_153717.3(EVC):c.384+10del
|
|
|
NM_153717.3(EVC):c.384+12G>C
|
rs1192867917
|
|
NM_153717.3(EVC):c.384+15C>G
|
|
|
NM_153717.3(EVC):c.385-13A>G
|
|
|
NM_153717.3(EVC):c.385-1G>A
|
|
|
NM_153717.3(EVC):c.385-20G>A
|
|
|
NM_153717.3(EVC):c.385-20G>T
|
|
|
NM_153717.3(EVC):c.385-3C>T
|
rs2151934859
|
|
NM_153717.3(EVC):c.385-6C>T
|
rs1167563102
|
|
NM_153717.3(EVC):c.385-7A>T
|
|
|
NM_153717.3(EVC):c.390G>T (p.Leu130=)
|
rs2151934901
|
|
NM_153717.3(EVC):c.393C>G (p.Ala131=)
|
|
|
NM_153717.3(EVC):c.393C>T (p.Ala131=)
|
rs374197757
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.399C>T (p.Gly133=)
|
|
|
NM_153717.3(EVC):c.39G>A (p.Arg13=)
|
rs1479357518
|
|
NM_153717.3(EVC):c.402C>T (p.Ser134=)
|
|
|
NM_153717.3(EVC):c.405C>T (p.Ser135=)
|
rs2151934982
|
|
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
|
|
|
NM_153717.3(EVC):c.411G>T (p.Pro137=)
|
|
|
NM_153717.3(EVC):c.414T>C (p.Ser138=)
|
|
|
NM_153717.3(EVC):c.417G>T (p.Leu139=)
|
|
|
NM_153717.3(EVC):c.42G>A (p.Leu14=)
|
rs1213156946
|
|
NM_153717.3(EVC):c.435G>A (p.Gln145=)
|
|
|
NM_153717.3(EVC):c.437C>G (p.Ala146Gly)
|
rs2151935147
|
|
NM_153717.3(EVC):c.438T>C (p.Ala146=)
|
|
|
NM_153717.3(EVC):c.438T>G (p.Ala146=)
|
rs200690823
|
|
NM_153717.3(EVC):c.441T>G (p.Val147=)
|
rs1192506036
|
|
NM_153717.3(EVC):c.456G>C (p.Pro152=)
|
|
|
NM_153717.3(EVC):c.456G>T (p.Pro152=)
|
|
|
NM_153717.3(EVC):c.459A>G (p.Val153=)
|
|
|
NM_153717.3(EVC):c.462G>A (p.Glu154=)
|
rs1019139111
|
|
NM_153717.3(EVC):c.465C>G (p.Ala155=)
|
rs146706283
|
|
NM_153717.3(EVC):c.477C>T (p.Ser159=)
|
rs2151935441
|
|
NM_153717.3(EVC):c.478_481del (p.Ser160fs)
|
rs2151935449
|
|
NM_153717.3(EVC):c.480T>C (p.Ser160=)
|
rs2151935461
|
|
NM_153717.3(EVC):c.489C>T (p.Ser163=)
|
|
|
NM_153717.3(EVC):c.48G>A (p.Leu16=)
|
|
|
NM_153717.3(EVC):c.492G>A (p.Leu164=)
|
|
|
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
|
|
|
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
|
|
|
NM_153717.3(EVC):c.507G>A (p.Lys169=)
|
|
|
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
|
|
|
NM_153717.3(EVC):c.528C>G (p.Ser176=)
|
|
|
NM_153717.3(EVC):c.528C>T (p.Ser176=)
|
rs532386294
|
|
NM_153717.3(EVC):c.528del (p.Ser177fs)
|
rs1381525157
|
|
NM_153717.3(EVC):c.531C>T (p.Ser177=)
|
rs542910336
|
|
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
|
|
|
NM_153717.3(EVC):c.537C>T (p.His179=)
|
|
|
NM_153717.3(EVC):c.539C>A (p.Ser180Ter)
|
rs762136199
|
|
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
|
|
|
NM_153717.3(EVC):c.540G>T (p.Ser180=)
|
|
|
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
|
|
|
NM_153717.3(EVC):c.54G>C (p.Arg18=)
|
rs1050002700
|
|
NM_153717.3(EVC):c.54G>T (p.Arg18=)
|
rs1050002700
|
|
NM_153717.3(EVC):c.564C>G (p.Leu188=)
|
|
|
NM_153717.3(EVC):c.568dup (p.Arg190fs)
|
|
|
NM_153717.3(EVC):c.56_174+42del
|
|
|
NM_153717.3(EVC):c.573C>G (p.Thr191=)
|
|
|
NM_153717.3(EVC):c.579C>T (p.Leu193=)
|
|
|
NM_153717.3(EVC):c.581G>C (p.Arg194Pro)
|
rs777256784
|
|
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer)
|
rs2151935987
|
|
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
|
|
|
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
|
|
|
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
|
rs115507440
|
|
NM_153717.3(EVC):c.58G>C (p.Ala20Pro)
|
rs1359522467
|
|
NM_153717.3(EVC):c.594C>T (p.Phe198=)
|
rs1224007808
|
|
NM_153717.3(EVC):c.596del (p.Pro199fs)
|
|
|
NM_153717.3(EVC):c.597T>C (p.Pro199=)
|
|
|
NM_153717.3(EVC):c.603G>A (p.Val201=)
|
rs2151936107
|
|
NM_153717.3(EVC):c.604C>T (p.Leu202=)
|
|
|
NM_153717.3(EVC):c.609C>T (p.Ala203=)
|
rs2151936137
|
|
NM_153717.3(EVC):c.60G>C (p.Ala20=)
|
|
|
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)
|
rs553634958
|
|
NM_153717.3(EVC):c.612C>T (p.Cys204=)
|
rs553634958
|
|
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
|
|
|
NM_153717.3(EVC):c.617+11C>T
|
|
|
NM_153717.3(EVC):c.617+12G>A
|
|
|
NM_153717.3(EVC):c.617+14G>T
|
|
|
NM_153717.3(EVC):c.617+15C>A
|
|
|
NM_153717.3(EVC):c.617+15C>T
|
|
|
NM_153717.3(EVC):c.617+18T>C
|
|
|
NM_153717.3(EVC):c.617+18T>G
|
|
|
NM_153717.3(EVC):c.617+19G>A
|
|
|
NM_153717.3(EVC):c.617+1G>A
|
rs1726841476
|
|
NM_153717.3(EVC):c.617+20G>T
|
|
|
NM_153717.3(EVC):c.617+2T>A
|
|
|
NM_153717.3(EVC):c.618-13T>A
|
|
|
NM_153717.3(EVC):c.618-14A>C
|
rs767274362
|
|
NM_153717.3(EVC):c.618-15C>T
|
|
|
NM_153717.3(EVC):c.618-18T>G
|
|
|
NM_153717.3(EVC):c.618-19T>C
|
|
|
NM_153717.3(EVC):c.618-2A>G
|
|
|
NM_153717.3(EVC):c.618-9A>T
|
rs2151945814
|
|
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
|
|
|
NM_153717.3(EVC):c.630C>T (p.Asp210=)
|
rs1339867475
|
|
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
|
|
|
NM_153717.3(EVC):c.633G>T (p.Leu211=)
|
|
|
NM_153717.3(EVC):c.635del (p.Cys212fs)
|
rs2151945937
|
|
NM_153717.3(EVC):c.636T>C (p.Cys212=)
|
rs2151945944
|
|
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
|
|
|
NM_153717.3(EVC):c.642C>T (p.Tyr214=)
|
rs2151945971
|
|
NM_153717.3(EVC):c.64C>A (p.Arg22=)
|
rs1267604048
|
|
NM_153717.3(EVC):c.651C>T (p.His217=)
|
|
|
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
|
|
|
NM_153717.3(EVC):c.65G>C (p.Arg22Pro)
|
rs2151767266
|
|
NM_153717.3(EVC):c.666G>A (p.Leu222=)
|
rs1560299816
|
|
NM_153717.3(EVC):c.66G>A (p.Arg22=)
|
|
|
NM_153717.3(EVC):c.66G>C (p.Arg22=)
|
|
|
NM_153717.3(EVC):c.673del (p.Asp225fs)
|
rs2151946081
|
|
NM_153717.3(EVC):c.678G>A (p.Thr226=)
|
|
|
NM_153717.3(EVC):c.678G>C (p.Thr226=)
|
rs772621806
|
|
NM_153717.3(EVC):c.681A>G (p.Ala227=)
|
|
|
NM_153717.3(EVC):c.696G>C (p.Lys232Asn)
|
rs371664035
|
|
NM_153717.3(EVC):c.698A>C (p.His233Pro)
|
|
|
NM_153717.3(EVC):c.698A>G (p.His233Arg)
|
rs769431829
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.69G>A (p.Pro23=)
|
rs1722996127
|
|
NM_153717.3(EVC):c.700A>G (p.Met234Val)
|
|
|
NM_153717.3(EVC):c.702+12T>C
|
|
|
NM_153717.3(EVC):c.702+13G>A
|
|
|
NM_153717.3(EVC):c.702+15T>C
|
|
|
NM_153717.3(EVC):c.702+17G>A
|
|
|
NM_153717.3(EVC):c.702+18C>T
|
|
|
NM_153717.3(EVC):c.702+9A>T
|
rs1415648336
|
|
NM_153717.3(EVC):c.703-10T>G
|
rs1231822006
|
|
NM_153717.3(EVC):c.703-13T>A
|
|
|
NM_153717.3(EVC):c.703-15C>T
|
|
|
NM_153717.3(EVC):c.703-17T>C
|
|
|
NM_153717.3(EVC):c.703-19T>G
|
|
|
NM_153717.3(EVC):c.703-1G>C
|
rs1485152854
|
|
NM_153717.3(EVC):c.703-20C>T
|
|
|
NM_153717.3(EVC):c.703-5_703-4dup
|
|
|
NM_153717.3(EVC):c.703-7G>A
|
rs2152000339
|
|
NM_153717.3(EVC):c.703-8G>C
|
|
|
NM_153717.3(EVC):c.708dup (p.Ile237fs)
|
|
|
NM_153717.3(EVC):c.719T>G (p.Phe240Cys)
|
rs2152000493
|
|
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
|
|
|
NM_153717.3(EVC):c.720dup (p.Lys241Ter)
|
rs1553871764
|
|
NM_153717.3(EVC):c.721A>T (p.Lys241Ter)
|
rs2152000498
|
|
NM_153717.3(EVC):c.724dup (p.Met242fs)
|
rs1577395250
|
|
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
|
|
|
NM_153717.3(EVC):c.729C>T (p.Cys243=)
|
|
|
NM_153717.3(EVC):c.72G>C (p.Ala24=)
|
|
|
NM_153717.3(EVC):c.72G>T (p.Ala24=)
|
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
NM_153717.3(EVC):c.732C>T (p.Leu244=)
|
rs1035355173
|
|
NM_153717.3(EVC):c.734T>A (p.Leu245His)
|
|
|
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
|
|
|
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
|
|
|
NM_153717.3(EVC):c.747T>A (p.Pro249=)
|
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.75C>G (p.Pro25=)
|
rs1377348889
|
|
NM_153717.3(EVC):c.75C>T (p.Pro25=)
|
rs1377348889
|
|
NM_153717.3(EVC):c.765T>C (p.Asp255=)
|
rs2152000814
|
|
NM_153717.3(EVC):c.768A>G (p.Glu256=)
|
rs2152000830
|
|
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
|
|
|
NM_153717.3(EVC):c.784del (p.Leu262fs)
|
rs1560315890
|
|
NM_153717.3(EVC):c.784dup (p.Leu262fs)
|
|
|
NM_153717.3(EVC):c.786T>C (p.Leu262=)
|
|
|
NM_153717.3(EVC):c.788C>G (p.Ser263Ter)
|
rs2152001027
|
|
NM_153717.3(EVC):c.792A>G (p.Lys264=)
|
rs2152001052
|
|
NM_153717.3(EVC):c.801+12A>G
|
|
|
NM_153717.3(EVC):c.801+13C>T
|
rs545838582
|
|
NM_153717.3(EVC):c.801+14C>A
|
|
|
NM_153717.3(EVC):c.801+16A>T
|
|
|
NM_153717.3(EVC):c.801+16_801+17del
|
|
|
NM_153717.3(EVC):c.801+1G>T
|
|
|
NM_153717.3(EVC):c.801+2T>C
|
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_153717.3(EVC):c.802-12_802-8del
|
rs753304898
|
|
NM_153717.3(EVC):c.802-17TTC[3]
|
rs370315662
|
|
NM_153717.3(EVC):c.802-17TTC[4]
|
rs370315662
|
|
NM_153717.3(EVC):c.802-18T>C
|
|
|
NM_153717.3(EVC):c.802-19T>C
|
|
|
NM_153717.3(EVC):c.802-2A>G
|
|
|
NM_153717.3(EVC):c.802-6C>T
|
rs773954366
|
|
NM_153717.3(EVC):c.802-9C>A
|
rs1309092985
|
|
NM_153717.3(EVC):c.802-9C>T
|
rs1309092985
|
|
NM_153717.3(EVC):c.807G>A (p.Leu269=)
|
|
|
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
|
rs1428021249
|
|
NM_153717.3(EVC):c.813A>G (p.Glu271=)
|
|
|
NM_153717.3(EVC):c.81G>T (p.Leu27=)
|
rs2151767494
|
|
NM_153717.3(EVC):c.822G>A (p.Lys274=)
|
|
|
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
|
|
|
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)
|
rs1251648799
|
|
NM_153717.3(EVC):c.82C>T (p.Leu28=)
|
|
|
NM_153717.3(EVC):c.831G>A (p.Gln277=)
|
rs2152027341
|
|
NM_153717.3(EVC):c.834C>T (p.Val278=)
|
rs575589201
|
|
NM_153717.3(EVC):c.843A>G (p.Ser281=)
|
rs2152027396
|
|
NM_153717.3(EVC):c.846C>T (p.Asn282=)
|
|
|
NM_153717.3(EVC):c.84G>A (p.Leu28=)
|
|
|
NM_153717.3(EVC):c.857C>G (p.Ser286Trp)
|
rs139263450
|
|
NM_153717.3(EVC):c.858G>T (p.Ser286=)
|
|
|
NM_153717.3(EVC):c.861G>A (p.Gly287=)
|
|
|
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
|
|
|
NM_153717.3(EVC):c.870C>T (p.Asp290=)
|
|
|
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
|
|
|
NM_153717.3(EVC):c.873T>A (p.Ser291=)
|
rs1577407384
|
|
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
|
|
|
NM_153717.3(EVC):c.87C>G (p.Ala29=)
|
|
|
NM_153717.3(EVC):c.87C>T (p.Ala29=)
|
|
|
NM_153717.3(EVC):c.891T>A (p.Ala297=)
|
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.903G>A (p.Lys301=)
|
rs2152027698
|
|
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)
|
rs1729197529
|
|
NM_153717.3(EVC):c.90C>T (p.Pro30=)
|
|
|
NM_153717.3(EVC):c.90del (p.Ala31fs)
|
rs1196950486
|
|
NM_153717.3(EVC):c.910dup (p.Arg304fs)
|
rs1428798262
|
|
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
|
|
|
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
|
rs1729200967
|
|
NM_153717.3(EVC):c.928C>T (p.Leu310=)
|
rs145300726
|
|
NM_153717.3(EVC):c.930A>G (p.Leu310=)
|
rs776792609
|
|
NM_153717.3(EVC):c.933C>T (p.Ile311=)
|
rs759718572
|
|
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
|
|
|
NM_153717.3(EVC):c.936T>C (p.Asp312=)
|
rs1294633111
|
|
NM_153717.3(EVC):c.939+10_939+11delinsGT
|
rs2152027986
|
|
NM_153717.3(EVC):c.939+11G>A
|
|
|
NM_153717.3(EVC):c.939+13C>A
|
|
|
NM_153717.3(EVC):c.939+16T>A
|
|
|
NM_153717.3(EVC):c.939+16T>C
|
|
|
NM_153717.3(EVC):c.939+17C>T
|
|
|
NM_153717.3(EVC):c.939+1G>A
|
rs1553873138
|
|
NM_153717.3(EVC):c.939+20T>A
|
|
|
NM_153717.3(EVC):c.939+9_939+10inv
|
|
|
NM_153717.3(EVC):c.939T>A (p.Asn313Lys)
|
rs764394644
|
|
NM_153717.3(EVC):c.93C>T (p.Ala31=)
|
rs866226288
|
|
NM_153717.3(EVC):c.940-14T>C
|
|
|
NM_153717.3(EVC):c.940-150T>G
|
rs576076928
|
|
NM_153717.3(EVC):c.940-15G>A
|
|
|
NM_153717.3(EVC):c.940-15G>T
|
|
|
NM_153717.3(EVC):c.940-6T>C
|
rs2152044901
|
|
NM_153717.3(EVC):c.940-9A>G
|
rs1241925243
|
|
NM_153717.3(EVC):c.940A>G (p.Met314Val)
|
rs557010916
|
|
NM_153717.3(EVC):c.945A>G (p.Glu315=)
|
rs1057523442
|
|
NM_153717.3(EVC):c.957A>G (p.Lys319=)
|
rs2152045024
|
|
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
|
|
|
NM_153717.3(EVC):c.96G>A (p.Val32=)
|
rs2151767783
|
|
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)
|
rs1729654379
|
|
NM_153717.3(EVC):c.986_987del (p.Val329fs)
|
|
|
NM_153717.3(EVC):c.987G>A (p.Val329=)
|
|
|
NM_153717.3(EVC):c.990C>T (p.Asp330=)
|
rs2152045173
|
|
NM_153717.3(EVC):c.999G>A (p.Lys333=)
|
rs1729659333
|
|
NM_153717.3(EVC):c.9C>A (p.Arg3=)
|
rs1330946337
|
|