NM_153717.3(EVC):c.*1112T>C
|
rs28460555
|
0.20666
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_153717.3(EVC):c.*1123A>G
|
rs112378896
|
0.01481
|
NM_153717.3(EVC):c.*922G>A
|
rs71599840
|
0.00749
|
NM_153717.3(EVC):c.*1136T>C
|
rs71599852
|
0.00394
|
NM_153717.3(EVC):c.*1248T>G
|
rs559890176
|
0.00230
|
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.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.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.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
NM_153717.3(EVC):c.2562-3C>T
|
rs375960614
|
0.00084
|
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.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.*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.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
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.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_153717.3(EVC):c.2519C>T (p.Thr840Met)
|
rs143464806
|
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.*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.*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.*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.299A>G (p.Asp100Gly)
|
rs1282571678
|
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.1102G>A (p.Ala368Thr)
|
rs145645536
|
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.2392G>A (p.Gly798Arg)
|
rs142738089
|
0.00009
|
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)
|
rs780968816
|
0.00009
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
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.*3118C>G
|
rs906071299
|
0.00006
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
NM_153717.3(EVC):c.1807G>A (p.Val603Met)
|
rs886042994
|
0.00006
|
NM_153717.3(EVC):c.2550G>A (p.Ala850=)
|
rs754053651
|
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.*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.1825C>T (p.Arg609Trp)
|
rs748220728
|
0.00004
|
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)
|
rs777024713
|
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.1482G>A (p.Leu494=)
|
rs371300088
|
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.1722C>T (p.Arg574=)
|
rs144637923
|
0.00003
|
NM_153717.3(EVC):c.1956C>T (p.Arg652=)
|
rs535012160
|
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.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.1303C>T (p.Arg435Cys)
|
rs756430334
|
0.00002
|
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)
|
rs376440801
|
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.2516G>A (p.Arg839Lys)
|
rs745451709
|
0.00002
|
NM_153717.3(EVC):c.2554C>G (p.His852Asp)
|
rs574669392
|
0.00002
|
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys)
|
rs772327981
|
0.00002
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_153717.3(EVC):c.626T>C (p.Val209Ala)
|
rs1230866971
|
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.1247G>A (p.Arg416Gln)
|
rs745640537
|
0.00001
|
NM_153717.3(EVC):c.1283C>T (p.Ala428Val)
|
rs1409088904
|
0.00001
|
NM_153717.3(EVC):c.1316-10T>A
|
rs1730755993
|
0.00001
|
NM_153717.3(EVC):c.136C>T (p.Leu46Phe)
|
rs1246844384
|
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.1638G>T (p.Met546Ile)
|
rs1225766769
|
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.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.1955G>A (p.Arg652His)
|
rs765024763
|
0.00001
|
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu)
|
rs375340438
|
0.00001
|
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys)
|
rs367968708
|
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.2500C>T (p.Pro834Ser)
|
rs1395596111
|
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.2761C>T (p.Pro921Ser)
|
rs771505230
|
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.364C>T (p.Pro122Ser)
|
rs1407007311
|
0.00001
|
NM_153717.3(EVC):c.388C>T (p.Leu130=)
|
rs886059496
|
0.00001
|
NM_153717.3(EVC):c.49G>A (p.Gly17Arg)
|
rs1722991667
|
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.835_837del (p.Lys279del)
|
rs761463883
|
0.00001
|
NM_153717.3(EVC):c.853A>G (p.Met285Val)
|
rs1464387798
|
0.00001
|
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
|
rs1314509668
|
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.928C>G (p.Leu310Val)
|
rs145300726
|
0.00001
|
NC_000004.11:g.(?_5720955)_(5721120_?)del
|
|
|
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.*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.*1512T>C
|
rs576620294
|
|
NM_153717.3(EVC):c.*1515A>T
|
rs545639856
|
|
NM_153717.3(EVC):c.*1545T>G
|
rs1328816482
|
|
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.1031T>C (p.Met344Thr)
|
|
|
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.1050G>C (p.Met350Ile)
|
rs1729670311
|
|
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
|
|
|
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro)
|
rs1729675412
|
|
NM_153717.3(EVC):c.1084_1086del (p.Glu362del)
|
rs1553873980
|
|
NM_153717.3(EVC):c.1109A>T (p.Glu370Val)
|
rs778032532
|
|
NM_153717.3(EVC):c.1119G>A (p.Met373Ile)
|
rs1397539769
|
|
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
|
|
|
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser)
|
rs760174792
|
|
NM_153717.3(EVC):c.1141G>A (p.Val381Met)
|
rs2152076238
|
|
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr)
|
rs886059505
|
|
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.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.1207G>A (p.Gly403Ser)
|
|
|
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
|
|
|
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
|
rs1577440027
|
|
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
|
|
|
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.1268C>T (p.Thr423Met)
|
|
|
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.1286_1288del (p.Phe429del)
|
rs1553875733
|
|
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
|
|
|
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_153717.3(EVC):c.1379C>T (p.Ala460Val)
|
rs1309149029
|
|
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
|
|
|
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
|
|
|
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
|
|
|
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
|
|
|
NM_153717.3(EVC):c.1465-5C>T
|
rs1731155996
|
|
NM_153717.3(EVC):c.147C>T (p.Arg49=)
|
rs1723020172
|
|
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
|
|
|
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
|
rs1577453796
|
|
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
|
|
|
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
|
|
|
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.1564-3C>T
|
rs747435572
|
|
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.1607A>T (p.Asp536Val)
|
|
|
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
|
|
|
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
|
|
|
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
|
|
|
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
|
|
|
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)
|
rs371682994
|
|
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
|
|
|
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
|
|
|
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys)
|
rs539010490
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly)
|
rs141820870
|
|
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu)
|
rs1383180
|
|
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
|
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
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.1787A>C (p.Glu596Ala)
|
|
|
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe)
|
rs1713205522
|
|
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
|
|
|
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
|
|
|
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu)
|
rs771110251
|
|
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
|
|
|
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.1907A>G (p.Gln636Arg)
|
rs757227773
|
|
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del)
|
rs1553891170
|
|
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
|
|
|
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
|
|
|
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)
|
rs35401386
|
|
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del)
|
rs1553891205
|
|
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
|
|
|
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser)
|
rs1577616840
|
|
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro)
|
rs372089496
|
|
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
|
|
|
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
|
|
|
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro)
|
rs2152340934
|
|
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.2105G>A (p.Arg702His)
|
|
|
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del)
|
rs1553891884
|
|
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln)
|
rs1430134537
|
|
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
|
|
|
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu)
|
rs971647538
|
|
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
|
|
|
NM_153717.3(EVC):c.218C>T (p.Ala73Val)
|
rs1361442490
|
|
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
|
|
|
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
|
|
|
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
|
|
|
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
|
|
|
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
|
|
|
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
|
|
|
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
|
|
|
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
|
|
|
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.2339A>G (p.Tyr780Cys)
|
|
|
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser)
|
rs149537641
|
|
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
|
|
|
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
|
|
|
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
|
|
|
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.2424A>T (p.Lys808Asn)
|
|
|
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+5G>A
|
|
|
NM_153717.3(EVC):c.2449+8del
|
rs886059507
|
|
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
|
|
|
NM_153717.3(EVC):c.248C>T (p.Ser83Leu)
|
rs886059495
|
|
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
|
|
|
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
|
|
|
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.2549C>T (p.Ala850Val)
|
|
|
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.2580G>C (p.Lys860Asn)
|
|
|
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
|
|
|
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
|
|
|
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn)
|
rs1241844907
|
|
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC
|
rs1553895769
|
|
NM_153717.3(EVC):c.2689-8C>G
|
|
|
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
|
|
|
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
|
|
|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
NM_153717.3(EVC):c.2783-3C>A
|
|
|
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs)
|
rs1460851298
|
|
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
|
|
|
NM_153717.3(EVC):c.2842del (p.Val948fs)
|
|
|
NM_153717.3(EVC):c.2842dup (p.Val948fs)
|
rs1553896459
|
|
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
|
|
|
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
|
|
|
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser)
|
rs2152394584
|
|
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.2885G>T (p.Gly962Val)
|
|
|
NM_153717.3(EVC):c.2893dup (p.Ser965fs)
|
rs1553896497
|
|
NM_153717.3(EVC):c.2894+13C>T
|
rs886059508
|
|
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
|
|
|
NM_153717.3(EVC):c.2894+4T>A
|
rs746636411
|
|
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.2927C>T (p.Ala976Val)
|
|
|
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu)
|
rs749142395
|
|
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
|
|
|
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)
|
rs150173231
|
|
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
|
|
|
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg)
|
rs1716842535
|
|
NM_153717.3(EVC):c.300+3A>G
|
|
|
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del)
|
rs1553865272
|
|
NM_153717.3(EVC):c.34G>C (p.Ala12Pro)
|
rs1369066723
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_153717.3(EVC):c.385-3C>T
|
rs2151934859
|
|
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del)
|
rs1553857864
|
|
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
|
|
|
NM_153717.3(EVC):c.437C>G (p.Ala146Gly)
|
rs2151935147
|
|
NM_153717.3(EVC):c.46C>T (p.Leu16=)
|
rs1722990488
|
|
NM_153717.3(EVC):c.493A>G (p.Ser165Gly)
|
rs1259803475
|
|
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
|
|
|
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
|
|
|
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
|
|
|
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
|
|
|
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
|
|
|
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
|
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NM_153717.3(EVC):c.581G>C (p.Arg194Pro)
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rs777256784
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NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
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NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
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NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
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rs115507440
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NM_153717.3(EVC):c.58G>C (p.Ala20Pro)
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rs1359522467
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NM_153717.3(EVC):c.612C>T (p.Cys204=)
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rs553634958
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NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
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NM_153717.3(EVC):c.65G>C (p.Arg22Pro)
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rs2151767266
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NM_153717.3(EVC):c.696G>C (p.Lys232Asn)
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rs371664035
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NM_153717.3(EVC):c.698A>C (p.His233Pro)
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NM_153717.3(EVC):c.698A>G (p.His233Arg)
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rs769431829
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NM_153717.3(EVC):c.700A>G (p.Met234Val)
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NM_153717.3(EVC):c.719T>G (p.Phe240Cys)
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rs2152000493
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NM_153717.3(EVC):c.726G>A (p.Met242Ile)
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NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup)
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rs1553857901
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NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
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rs529818833
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NM_153717.3(EVC):c.734T>A (p.Leu245His)
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NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
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NM_153717.3(EVC):c.740TTC[1] (p.Leu248del)
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rs1278946084
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NM_153717.3(EVC):c.751AAG[1] (p.Lys252del)
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rs1232712590
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NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
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NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del)
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rs1553857904
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NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
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rs1428021249
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NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
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NM_153717.3(EVC):c.83T>C (p.Leu28Pro)
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rs1256100832
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NM_153717.3(EVC):c.857C>G (p.Ser286Trp)
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rs139263450
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NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
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NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
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NM_153717.3(EVC):c.939T>A (p.Asn313Lys)
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rs764394644
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NM_153717.3(EVC):c.940A>G (p.Met314Val)
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rs557010916
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NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup)
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rs1229967881
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