NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
NM_153717.3(EVC):c.*2417T>C
|
rs6848370
|
0.75819
|
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.*14G>A
|
rs2291151
|
0.61437
|
NM_153717.3(EVC):c.802-15C>T
|
rs4689313
|
0.60798
|
NM_153717.3(EVC):c.*931T>C
|
rs6840435
|
0.56030
|
NM_153717.3(EVC):c.939+63C>A
|
rs13145958
|
0.55696
|
NM_153717.3(EVC):c.1098+51A>T
|
rs4688961
|
0.52782
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
NM_153717.3(EVC):c.*2617G>A
|
rs3733186
|
0.41865
|
NM_153717.3(EVC):c.*2713C>T
|
rs3733188
|
0.41663
|
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_153717.3(EVC):c.1563+1771A>G
|
rs6828631
|
0.27419
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
NM_153717.3(EVC):c.*2268G>A
|
rs4261923
|
0.25768
|
NM_153717.3(EVC):c.939+114G>A
|
rs28609792
|
0.21365
|
NM_153717.3(EVC):c.*1318G>C
|
rs67547790
|
0.21091
|
NM_153717.3(EVC):c.*1112T>C
|
rs28460555
|
0.20666
|
NM_153717.3(EVC):c.801+240C>T
|
rs1480169
|
0.20327
|
NM_153717.3(EVC):c.1465-47A>C
|
rs4642178
|
0.20086
|
NM_153717.3(EVC):c.301-80G>A
|
rs2276875
|
0.17578
|
NM_153717.3(EVC):c.1563+1897C>T
|
rs56328334
|
0.16475
|
NM_153717.3(EVC):c.*748T>C
|
rs62297707
|
0.13967
|
NM_153717.3(EVC):c.*210C>A
|
rs16837692
|
0.13049
|
NM_153717.3(EVC):c.*1218C>T
|
rs12501119
|
0.13032
|
NM_153717.3(EVC):c.*3165T>C
|
rs3755847
|
0.12593
|
NM_153717.3(EVC):c.*2680G>A
|
rs3733187
|
0.12188
|
NM_153717.3(EVC):c.*2871C>T
|
rs3733189
|
0.12083
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
NM_153717.3(EVC):c.618-121G>A
|
rs75063475
|
0.09118
|
NM_153717.3(EVC):c.384+41C>T
|
rs113870218
|
0.08516
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_153717.3(EVC):c.*2009T>C
|
rs79152885
|
0.06541
|
NM_153717.3(EVC):c.*53T>C
|
rs7676531
|
0.06533
|
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_153717.3(EVC):c.*908G>A
|
rs13119698
|
0.03897
|
NM_153717.3(EVC):c.1096C>T (p.Leu366=)
|
rs6854138
|
0.03243
|
NM_153717.3(EVC):c.939+11G>T
|
rs55955937
|
0.02788
|
NM_153717.3(EVC):c.*1060A>C
|
rs71599848
|
0.02627
|
NM_153717.3(EVC):c.*1375A>G
|
rs114994758
|
0.02309
|
NM_153717.3(EVC):c.*2277G>C
|
rs28452978
|
0.01778
|
NM_153717.3(EVC):c.*1849C>G
|
rs75438311
|
0.01645
|
NM_153717.3(EVC):c.*615C>T
|
rs73079505
|
0.01604
|
NM_153717.3(EVC):c.*1083T>G
|
rs71599850
|
0.01599
|
NM_153717.3(EVC):c.*820C>T
|
rs137860758
|
0.01565
|
NM_153717.3(EVC):c.*1123A>G
|
rs112378896
|
0.01481
|
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)
|
rs2279252
|
0.01416
|
NM_153717.3(EVC):c.*1700C>T
|
rs74690944
|
0.01179
|
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_153717.3(EVC):c.*922G>A
|
rs71599840
|
0.00749
|
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_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_153717.3(EVC):c.*2132A>G
|
rs11939264
|
0.00524
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_153717.3(EVC):c.*2126T>G
|
rs191415414
|
0.00444
|
NM_153717.3(EVC):c.*2708G>A
|
rs79112570
|
0.00424
|
NM_153717.3(EVC):c.*1136T>C
|
rs71599852
|
0.00394
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
NM_153717.3(EVC):c.*2285C>G
|
rs145479436
|
0.00352
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_153717.3(EVC):c.*1185A>G
|
rs113728951
|
0.00308
|
NM_153717.3(EVC):c.*491C>T
|
rs114993332
|
0.00287
|
NM_153717.3(EVC):c.*2692G>T
|
rs149155153
|
0.00279
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
NM_153717.3(EVC):c.*1248T>G
|
rs559890176
|
0.00230
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
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.*1243A>G
|
rs111984543
|
0.00173
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
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_153717.3(EVC):c.*971C>G
|
rs13121258
|
0.00145
|
NM_153717.3(EVC):c.*1288T>C
|
rs1280696850
|
0.00134
|
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_153717.3(EVC):c.*2493A>G
|
rs188345323
|
0.00114
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_153717.3(EVC):c.*492G>A
|
rs530991301
|
0.00090
|
NM_153717.3(EVC):c.2562-3C>T
|
rs375960614
|
0.00084
|
NM_153717.3(EVC):c.*994C>T
|
rs547970729
|
0.00071
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_153717.3(EVC):c.2449+12C>G
|
rs751678723
|
0.00066
|
NM_153717.3(EVC):c.*263T>C
|
rs575488876
|
0.00061
|
NM_153717.3(EVC):c.*1592C>T
|
rs193184679
|
0.00055
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
NM_153717.3(EVC):c.*709T>C
|
rs183727253
|
0.00049
|
NM_153717.3(EVC):c.*3161A>C
|
rs550678702
|
0.00048
|
NM_153717.3(EVC):c.*1069A>G
|
rs13147953
|
0.00044
|
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)
|
rs141896077
|
0.00042
|
NM_153717.3(EVC):c.*2310G>A
|
rs539844915
|
0.00041
|
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)
|
rs139481521
|
0.00041
|
NM_153717.3(EVC):c.*858G>A
|
rs544337142
|
0.00039
|
NM_153717.3(EVC):c.*198G>A
|
rs181401771
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_153717.3(EVC):c.*1256C>T
|
rs532180814
|
0.00037
|
NM_153717.3(EVC):c.*1599C>T
|
rs527297174
|
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_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_153717.3(EVC):c.*2125T>G
|
rs139771274
|
0.00033
|
NM_153717.3(EVC):c.-139G>A
|
rs779841092
|
0.00030
|
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_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_153717.3(EVC):c.442T>C (p.Leu148=)
|
rs139931919
|
0.00022
|
NM_153717.3(EVC):c.*302G>A
|
rs560005309
|
0.00021
|
NM_153717.3(EVC):c.*3170T>C
|
rs886059519
|
0.00019
|
NM_153717.3(EVC):c.-163G>A
|
rs989585218
|
0.00019
|
NM_153717.3(EVC):c.*1573T>A
|
rs958649706
|
0.00017
|
NM_153717.3(EVC):c.*2808C>T
|
rs558094887
|
0.00016
|
NM_153717.3(EVC):c.1536C>T (p.Ala512=)
|
rs368554773
|
0.00016
|
NM_153717.3(EVC):c.*907C>T
|
rs71599839
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
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.*1871C>T
|
rs150764469
|
0.00013
|
NM_153717.3(EVC):c.*2569C>T
|
rs117573606
|
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_153717.3(EVC):c.*1369G>A
|
rs1414205292
|
0.00012
|
NM_153717.3(EVC):c.*1403C>T
|
rs547015924
|
0.00012
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
NM_153717.3(EVC):c.*1568C>T
|
rs886059514
|
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.473C>G (p.Ser158Cys)
|
rs150284356
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_153717.3(EVC):c.*2847G>A
|
rs935054019
|
0.00010
|
NM_153717.3(EVC):c.*355C>G
|
rs933138943
|
0.00010
|
NM_153717.3(EVC):c.677C>T (p.Thr226Met)
|
rs201583621
|
0.00010
|
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.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_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.*662G>A
|
rs866110948
|
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_153717.3(EVC):c.*1150A>G
|
rs1195713966
|
0.00006
|
NM_153717.3(EVC):c.*1313C>T
|
rs548196260
|
0.00006
|
NM_153717.3(EVC):c.*1554A>C
|
rs531598994
|
0.00006
|
NM_153717.3(EVC):c.*2321C>T
|
rs928733602
|
0.00006
|
NM_153717.3(EVC):c.*2361C>T
|
rs570533057
|
0.00006
|
NM_153717.3(EVC):c.*2466G>A
|
rs572400824
|
0.00006
|
NM_153717.3(EVC):c.*3118C>G
|
rs906071299
|
0.00006
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
NM_153717.3(EVC):c.1980G>A (p.Thr660=)
|
rs537471996
|
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.940-150T>C
|
rs576076928
|
0.00006
|
NM_153717.3(EVC):c.*1766C>T
|
rs1012765159
|
0.00005
|
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln)
|
rs775052481
|
0.00005
|
NM_153717.3(EVC):c.107C>G (p.Ala36Gly)
|
rs1219807707
|
0.00005
|
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
|
rs767013073
|
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.*1648T>C
|
rs371788560
|
0.00004
|
NM_153717.3(EVC):c.*254G>A
|
rs557237233
|
0.00004
|
NM_153717.3(EVC):c.*2593C>T
|
rs943646882
|
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.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.2412C>T (p.His804=)
|
rs553232598
|
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.*104G>A
|
rs753484436
|
0.00003
|
NM_153717.3(EVC):c.*1071G>C
|
rs1397822380
|
0.00003
|
NM_153717.3(EVC):c.*542C>T
|
rs1168888994
|
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.1482G>A (p.Leu494=)
|
rs371300088
|
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.1956C>T (p.Arg652=)
|
rs535012160
|
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.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
NM_153717.3(EVC):c.*2465C>T
|
rs555611922
|
0.00002
|
NM_153717.3(EVC):c.*869A>G
|
rs79612644
|
0.00002
|
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
|
rs921573510
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)
|
rs376440801
|
0.00002
|
NM_153717.3(EVC):c.2554C>G (p.His852Asp)
|
rs574669392
|
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.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_153717.3(EVC):c.*1008G>A
|
rs1217574266
|
0.00001
|
NM_153717.3(EVC):c.*1374G>C
|
rs549720489
|
0.00001
|
NM_153717.3(EVC):c.*1446A>G
|
rs754781931
|
0.00001
|
NM_153717.3(EVC):c.*1684A>G
|
rs886059515
|
0.00001
|
NM_153717.3(EVC):c.*2686G>A
|
rs545215581
|
0.00001
|
NM_153717.3(EVC):c.*2922A>C
|
rs886059518
|
0.00001
|
NM_153717.3(EVC):c.1101C>T (p.Asp367=)
|
rs186537549
|
0.00001
|
NM_153717.3(EVC):c.1315+8G>A
|
rs550411377
|
0.00001
|
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)
|
rs571637567
|
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.1564-2A>G
|
rs1553886849
|
0.00001
|
NM_153717.3(EVC):c.1602C>T (p.Phe534=)
|
rs766294209
|
0.00001
|
NM_153717.3(EVC):c.1683C>T (p.Val561=)
|
rs913909906
|
0.00001
|
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr)
|
rs926749491
|
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.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
NM_153717.3(EVC):c.1821C>G (p.His607Gln)
|
rs779056864
|
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.1942A>G (p.Arg648Gly)
|
rs1418345759
|
0.00001
|
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu)
|
rs375340438
|
0.00001
|
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter)
|
rs1714132239
|
0.00001
|
NM_153717.3(EVC):c.2098-1G>A
|
rs773019082
|
0.00001
|
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
|
rs765248751
|
0.00001
|
NM_153717.3(EVC):c.2305-5C>G
|
rs760071065
|
0.00001
|
NM_153717.3(EVC):c.2520G>A (p.Thr840=)
|
rs187406722
|
0.00001
|
NM_153717.3(EVC):c.2522C>T (p.Ala841Val)
|
rs1378303023
|
0.00001
|
NM_153717.3(EVC):c.2624A>T (p.His875Leu)
|
rs200403160
|
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.2821C>T (p.Gln941Ter)
|
rs896581899
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.339C>T (p.Phe113=)
|
rs750461424
|
0.00001
|
NM_153717.3(EVC):c.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.388C>T (p.Leu130=)
|
rs886059496
|
0.00001
|
NM_153717.3(EVC):c.510C>T (p.Asp170=)
|
rs757930422
|
0.00001
|
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
|
rs1286815295
|
0.00001
|
NM_153717.3(EVC):c.581G>A (p.Arg194Gln)
|
rs777256784
|
0.00001
|
NM_153717.3(EVC):c.617G>A (p.Ser206Asn)
|
rs1017946059
|
0.00001
|
NM_153717.3(EVC):c.702+1G>A
|
rs1553867138
|
0.00001
|
NM_153717.3(EVC):c.758C>G (p.Ser253Ter)
|
rs762795511
|
0.00001
|
NM_153717.3(EVC):c.835_837del (p.Lys279del)
|
rs761463883
|
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.878A>G (p.Tyr293Cys)
|
rs1252316234
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
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.*1019A>C
|
rs13147919
|
|
NM_153717.3(EVC):c.*1073C>T
|
rs1271610715
|
|
NM_153717.3(EVC):c.*1176C>A
|
rs13121710
|
|
NM_153717.3(EVC):c.*1199G>A
|
rs1315669218
|
|
NM_153717.3(EVC):c.*1257G>T
|
rs1013315409
|
|
NM_153717.3(EVC):c.*1277A>C
|
rs1259649075
|
|
NM_153717.3(EVC):c.*1314G>A
|
rs567979829
|
|
NM_153717.3(EVC):c.*1338C>T
|
rs1717063885
|
|
NM_153717.3(EVC):c.*1394T>C
|
rs1375474161
|
|
NM_153717.3(EVC):c.*1395C>T
|
rs886059513
|
|
NM_153717.3(EVC):c.*1428C>G
|
rs574764934
|
|
NM_153717.3(EVC):c.*1439C>T
|
rs188270163
|
|
NM_153717.3(EVC):c.*1512T>C
|
rs576620294
|
|
NM_153717.3(EVC):c.*1515A>T
|
rs545639856
|
|
NM_153717.3(EVC):c.*1545T>G
|
rs1328816482
|
|
NM_153717.3(EVC):c.*1845del
|
rs397690241
|
|
NM_153717.3(EVC):c.*2303T>A
|
rs915952245
|
|
NM_153717.3(EVC):c.*2349T>C
|
rs886059517
|
|
NM_153717.3(EVC):c.*2468C>G
|
rs1717227616
|
|
NM_153717.3(EVC):c.*2490C>G
|
rs145238482
|
|
NM_153717.3(EVC):c.*2490C>T
|
rs145238482
|
|
NM_153717.3(EVC):c.*2692G>A
|
rs149155153
|
|
NM_153717.3(EVC):c.*274C>G
|
rs758225073
|
|
NM_153717.3(EVC):c.*3046G>C
|
rs934986465
|
|
NM_153717.3(EVC):c.*3121C>G
|
rs1717320370
|
|
NM_153717.3(EVC):c.*367C>T
|
rs886059510
|
|
NM_153717.3(EVC):c.*3T>G
|
rs368249789
|
|
NM_153717.3(EVC):c.*582C>A
|
rs1716916256
|
|
NM_153717.3(EVC):c.*619C>G
|
rs1716921490
|
|
NM_153717.3(EVC):c.*704_*705insTT
|
rs886059511
|
|
NM_153717.3(EVC):c.*798T>G
|
rs13101313
|
|
NM_153717.3(EVC):c.*844C>G
|
rs1180694671
|
|
NM_153717.3(EVC):c.*877C>T
|
rs886059512
|
|
NM_153717.3(EVC):c.*956C>G
|
rs761012202
|
|
NM_153717.3(EVC):c.*967T>G
|
rs182343325
|
|
NM_153717.3(EVC):c.*995T>A
|
rs71599846
|
|
NM_153717.3(EVC):c.-138GA[1]
|
rs886059494
|
|
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.104G>A (p.Gly35Asp)
|
rs1560259105
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter)
|
rs779915989
|
|
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
|
|
|
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro)
|
rs1729675412
|
|
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
|
|
|
NM_153717.3(EVC):c.1084_1086del (p.Glu362del)
|
rs1553873980
|
|
NM_153717.3(EVC):c.1099-167G>C
|
rs6810769
|
|
NM_153717.3(EVC):c.1099-208C>T
|
rs6812234
|
|
NM_153717.3(EVC):c.1109A>T (p.Glu370Val)
|
rs778032532
|
|
NM_153717.3(EVC):c.1113del (p.Thr372fs)
|
rs2152076090
|
|
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
|
|
|
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser)
|
rs760174792
|
|
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr)
|
rs886059505
|
|
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
|
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
|
|
|
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
|
|
|
NM_153717.3(EVC):c.1252_1254del (p.Lys418del)
|
rs1553875708
|
|
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys)
|
rs373502728
|
|
NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del)
|
rs1553875724
|
|
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4])
|
rs1553857987
|
|
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
|
|
|
NM_153717.3(EVC):c.1286_1288del (p.Phe429del)
|
rs1553875733
|
|
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
|
|
|
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
|
|
|
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)
|
rs1730760070
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
NM_153717.3(EVC):c.134G>A (p.Trp45Ter)
|
rs1553857995
|
|
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
|
|
|
NM_153717.3(EVC):c.1373del (p.Gly458fs)
|
rs760607210
|
|
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs)
|
rs1553876034
|
|
NM_153717.3(EVC):c.1409del (p.Gln470fs)
|
|
|
NM_153717.3(EVC):c.1464+20T>C
|
rs886038740
|
|
NM_153717.3(EVC):c.1465-3_1472del
|
rs1300178432
|
|
NM_153717.3(EVC):c.1465-5C>T
|
rs1731155996
|
|
NM_153717.3(EVC):c.1473dup (p.Glu492Ter)
|
rs1553876813
|
|
NM_153717.3(EVC):c.147C>T (p.Arg49=)
|
rs1723020172
|
|
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
|
rs1577453796
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
NM_153717.3(EVC):c.1539del (p.Glu514fs)
|
rs759106605
|
|
NM_153717.3(EVC):c.1554dup (p.Leu519fs)
|
rs1553876870
|
|
NM_153717.3(EVC):c.1563+185A>G
|
rs12499655
|
|
NM_153717.3(EVC):c.1563+216C>A
|
rs1194963469
|
|
NM_153717.3(EVC):c.1564-3C>T
|
rs747435572
|
|
NM_153717.3(EVC):c.1572del (p.Phe525fs)
|
|
|
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile)
|
rs1735956373
|
|
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
|
rs753720935
|
|
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
|
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
NM_153717.3(EVC):c.1750del (p.Gln584fs)
|
rs1736000365
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
NM_153717.3(EVC):c.1765del (p.Gln589fs)
|
|
|
NM_153717.3(EVC):c.1776+7G>A
|
rs750719632
|
|
NM_153717.3(EVC):c.1776+7del
|
rs540001390
|
|
NM_153717.3(EVC):c.1777-9C>T
|
rs113468936
|
|
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del)
|
rs764533114
|
|
NM_153717.3(EVC):c.1803del (p.Ser602fs)
|
|
|
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)
|
rs1553889992
|
|
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu)
|
rs771110251
|
|
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.1864C>T (p.Arg622Ter)
|
rs1329006994
|
|
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
|
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del)
|
rs1553891170
|
|
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del)
|
rs1553891205
|
|
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro)
|
rs372089496
|
|
NM_153717.3(EVC):c.1995G>T (p.Ser665=)
|
rs142897994
|
|
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
|
|
|
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
|
|
|
NM_153717.3(EVC):c.2097+1G>T
|
rs1553891368
|
|
NM_153717.3(EVC):c.2098-1G>C
|
rs773019082
|
|
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)
|
rs545087909
|
|
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys)
|
rs545087909
|
|
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del)
|
rs1553891884
|
|
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu)
|
rs971647538
|
|
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)
|
rs1553891936
|
|
NM_153717.3(EVC):c.2176dup (p.Leu726fs)
|
rs146475474
|
|
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
|
|
|
NM_153717.3(EVC):c.2274G>A (p.Lys758=)
|
rs199611644
|
|
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
|
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_153717.3(EVC):c.2322G>A (p.Ala774=)
|
rs150373930
|
|
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.2376del (p.Tyr793fs)
|
rs1577638781
|
|
NM_153717.3(EVC):c.2391C>T (p.Ile797=)
|
rs202236029
|
|
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly)
|
rs1715095634
|
|
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp)
|
rs886059506
|
|
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
|
|
|
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup)
|
rs1553893407
|
|
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile)
|
rs1715104252
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.2449+8del
|
rs886059507
|
|
NM_153717.3(EVC):c.2450-1G>A
|
rs1715585498
|
|
NM_153717.3(EVC):c.2457del (p.Met820fs)
|
rs794726666
|
|
NM_153717.3(EVC):c.248C>T (p.Ser83Leu)
|
rs886059495
|
|
NM_153717.3(EVC):c.2561+12_2561+23del
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+12_2561+23dup
|
rs1199616057
|
|
NM_153717.3(EVC):c.2561+1G>A
|
rs1553894457
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn)
|
rs1241844907
|
|
NM_153717.3(EVC):c.2668del (p.Gln890fs)
|
rs1553895755
|
|
NM_153717.3(EVC):c.2688+1G>C
|
rs1553895776
|
|
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC
|
rs1553895769
|
|
NM_153717.3(EVC):c.2782+1del
|
rs1169539647
|
|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)
|
rs1460851298
|
|
NM_153717.3(EVC):c.2842dup (p.Val948fs)
|
rs1553896459
|
|
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)
|
rs780548102
|
|
NM_153717.3(EVC):c.2893dup (p.Ser965fs)
|
rs1553896497
|
|
NM_153717.3(EVC):c.2894+13C>T
|
rs886059508
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_153717.3(EVC):c.2913G>A (p.Gln971=)
|
rs370649784
|
|
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs)
|
rs1553896708
|
|
NM_153717.3(EVC):c.2920del (p.Ser974fs)
|
rs1370417156
|
|
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp)
|
rs1399872123
|
|
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu)
|
rs749142395
|
|
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)
|
rs150173231
|
|
NM_153717.3(EVC):c.301-1G>A
|
rs1363547577
|
|
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del)
|
rs1553865272
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
NM_153717.3(EVC):c.37_38del (p.Arg13fs)
|
rs1722986802
|
|
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.37del (p.Arg13fs)
|
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_153717.3(EVC):c.384G>T (p.Arg128=)
|
rs1553865346
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del)
|
rs1553857864
|
|
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
|
|
|
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
|
|
|
NM_153717.3(EVC):c.46C>T (p.Leu16=)
|
rs1722990488
|
|
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
|
|
|
NM_153717.3(EVC):c.493A>G (p.Ser165Gly)
|
rs1259803475
|
|
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
|
|
|
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.59_60insA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
|
|
|
NM_153717.3(EVC):c.612C>T (p.Cys204=)
|
rs553634958
|
|
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
|
|
|
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
|
|
|
NM_153717.3(EVC):c.650_651del (p.His217fs)
|
|
|
NM_153717.3(EVC):c.696G>C (p.Lys232Asn)
|
rs371664035
|
|
NM_153717.3(EVC):c.698dup (p.His233fs)
|
rs1553867117
|
|
NM_153717.3(EVC):c.703-1G>A
|
rs1485152854
|
|
NM_153717.3(EVC):c.708del (p.Phe236fs)
|
|
|
NM_153717.3(EVC):c.720del (p.Phe240fs)
|
rs1553871764
|
|
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup)
|
rs1553857901
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
NM_153717.3(EVC):c.735del (p.Asp246fs)
|
rs587776619
|
|
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del)
|
rs1278946084
|
|
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del)
|
rs1232712590
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
|
|
|
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del)
|
rs1553857904
|
|
NM_153717.3(EVC):c.801+2T>G
|
rs1553871866
|
|
NM_153717.3(EVC):c.801dup (p.Asp268fs)
|
rs777852863
|
|
NM_153717.3(EVC):c.802-1G>C
|
rs150814290
|
|
NM_153717.3(EVC):c.83T>C (p.Leu28Pro)
|
rs1256100832
|
|
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
|
|
|
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
|
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_153717.3(EVC):c.910del (p.Arg304fs)
|
|
|
NM_153717.3(EVC):c.922_923del (p.Glu308fs)
|
rs1729200967
|
|
NM_153717.3(EVC):c.933C>T (p.Ile311=)
|
rs759718572
|
|
NM_153717.3(EVC):c.939+1G>A
|
rs1553873138
|
|
NM_153717.3(EVC):c.939+1G>C
|
rs1553873138
|
|
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
|
|
|
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)
|
|
|
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup)
|
rs1229967881
|
|