NM_012414.4(RAB3GAP2):c.*1143A>G
|
rs865932881
|
0.01091
|
NM_021252.5(RAB18):c.*2327T>C
|
rs183252579
|
0.00679
|
NM_021252.5(RAB18):c.*557G>A
|
rs77758705
|
0.00432
|
NM_012414.4(RAB3GAP2):c.*1821C>T
|
rs144988111
|
0.00382
|
NM_021252.5(RAB18):c.*741A>G
|
rs114899806
|
0.00382
|
NM_021252.5(RAB18):c.*419G>A
|
rs569311945
|
0.00253
|
NM_021252.5(RAB18):c.*635G>A
|
rs558244526
|
0.00193
|
NM_012414.4(RAB3GAP2):c.*1538T>C
|
rs143472001
|
0.00175
|
NM_012414.4(RAB3GAP2):c.*2102C>A
|
rs149913096
|
0.00164
|
NM_012414.4(RAB3GAP2):c.-86T>C
|
rs535968000
|
0.00161
|
NM_021252.5(RAB18):c.*3559C>T
|
rs117041769
|
0.00129
|
NM_012414.4(RAB3GAP2):c.*78G>A
|
rs773904586
|
0.00116
|
NM_012414.4(RAB3GAP2):c.*391C>T
|
rs180750746
|
0.00105
|
NM_012414.4(RAB3GAP2):c.*2171A>G
|
rs570021838
|
0.00103
|
NM_012233.3(RAB3GAP1):c.*1397C>T
|
rs147177352
|
0.00098
|
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)
|
rs139337049
|
0.00097
|
NM_021252.5(RAB18):c.*402T>C
|
rs555933024
|
0.00096
|
NM_012414.4(RAB3GAP2):c.*1453T>G
|
rs146743192
|
0.00088
|
NM_012414.4(RAB3GAP2):c.3867+13C>T
|
rs200579008
|
0.00087
|
NM_021252.5(RAB18):c.*956A>C
|
rs770434733
|
0.00082
|
NM_012414.4(RAB3GAP2):c.*1335C>T
|
rs747221160
|
0.00065
|
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg)
|
rs143010678
|
0.00055
|
NM_012414.4(RAB3GAP2):c.613-14T>A
|
rs374690916
|
0.00053
|
NM_021252.5(RAB18):c.*3167G>A
|
rs546186493
|
0.00052
|
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)
|
rs140929274
|
0.00045
|
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=)
|
rs140377995
|
0.00045
|
NM_021252.5(RAB18):c.*1895G>C
|
rs746613469
|
0.00045
|
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu)
|
rs150643803
|
0.00044
|
NM_021252.5(RAB18):c.*1779A>T
|
rs544225499
|
0.00043
|
NM_021252.5(RAB18):c.*946G>T
|
rs561667494
|
0.00043
|
NM_012233.3(RAB3GAP1):c.*1611A>T
|
rs188370805
|
0.00035
|
NM_021252.5(RAB18):c.*1136G>A
|
rs753649409
|
0.00034
|
NM_012233.3(RAB3GAP1):c.*647T>C
|
rs553227077
|
0.00033
|
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys)
|
rs188522997
|
0.00033
|
NM_012414.3(RAB3GAP2):c.-132G>A
|
rs572492875
|
0.00031
|
NM_012414.4(RAB3GAP2):c.*2450G>T
|
rs568052992
|
0.00031
|
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val)
|
rs144779240
|
0.00029
|
NM_021252.5(RAB18):c.*1047T>G
|
rs983211187
|
0.00028
|
NM_021252.5(RAB18):c.*3543G>A
|
rs747609242
|
0.00027
|
NM_021252.5(RAB18):c.*1110A>G
|
rs79403948
|
0.00026
|
NM_012414.4(RAB3GAP2):c.*2176G>C
|
rs370566079
|
0.00023
|
NM_012414.4(RAB3GAP2):c.-87A>G
|
rs576041163
|
0.00023
|
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro)
|
rs147587414
|
0.00023
|
NM_012414.4(RAB3GAP2):c.*2518A>G
|
rs528100310
|
0.00022
|
NM_021252.5(RAB18):c.*1141T>C
|
rs751708158
|
0.00020
|
NM_021252.5(RAB18):c.*3729G>C
|
rs530960985
|
0.00020
|
NM_012414.4(RAB3GAP2):c.*1470G>A
|
rs555263194
|
0.00019
|
NM_012414.4(RAB3GAP2):c.*374T>G
|
rs765864531
|
0.00019
|
NM_021252.5(RAB18):c.*1842A>G
|
rs758153438
|
0.00019
|
NM_021252.5(RAB18):c.*1845G>T
|
rs186064414
|
0.00016
|
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp)
|
rs141436429
|
0.00013
|
NM_012414.4(RAB3GAP2):c.-78C>T
|
rs557235116
|
0.00013
|
NM_021252.5(RAB18):c.*1502G>C
|
rs767488036
|
0.00013
|
NM_021252.5(RAB18):c.*2862T>C
|
rs767741672
|
0.00013
|
NM_021252.5(RAB18):c.*992C>A
|
rs763254596
|
0.00013
|
NM_012233.3(RAB3GAP1):c.-4C>T
|
rs202050016
|
0.00012
|
NM_012233.3(RAB3GAP1):c.*346G>A
|
rs534792972
|
0.00011
|
NM_012414.4(RAB3GAP2):c.*2643T>C
|
rs886046007
|
0.00011
|
NM_012414.4(RAB3GAP2):c.960+13T>G
|
rs202020014
|
0.00011
|
NM_021252.4(RAB18):c.-144T>A
|
rs780539442
|
0.00011
|
NM_012414.4(RAB3GAP2):c.*1559C>T
|
rs962614083
|
0.00010
|
NM_021252.5(RAB18):c.*2943A>G
|
rs886046975
|
0.00010
|
NM_021252.5(RAB18):c.*3193C>T
|
rs886046978
|
0.00010
|
NM_021252.5(RAB18):c.*4185G>A
|
rs772242395
|
0.00010
|
NM_012233.3(RAB3GAP1):c.*1534G>A
|
rs994607354
|
0.00009
|
NM_012414.4(RAB3GAP2):c.*2550G>C
|
rs886046009
|
0.00009
|
NM_012414.4(RAB3GAP2):c.*2551_*2552del
|
rs886046008
|
0.00009
|
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val)
|
rs143415462
|
0.00009
|
NM_021252.5(RAB18):c.*3222C>T
|
rs751337334
|
0.00009
|
NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys)
|
rs541272906
|
0.00008
|
NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala)
|
rs767842373
|
0.00008
|
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val)
|
rs151225064
|
0.00008
|
NM_012233.3(RAB3GAP1):c.*201T>G
|
rs78044288
|
0.00007
|
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln)
|
rs146072589
|
0.00007
|
NM_012414.4(RAB3GAP2):c.*2695T>C
|
rs1004870855
|
0.00007
|
NM_021252.5(RAB18):c.*3927A>G
|
rs886046981
|
0.00007
|
NM_012233.3(RAB3GAP1):c.*1693G>C
|
rs144378327
|
0.00006
|
NM_012233.3(RAB3GAP1):c.*1764C>G
|
rs917952866
|
0.00006
|
NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val)
|
rs200175711
|
0.00006
|
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln)
|
rs587780426
|
0.00006
|
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys)
|
rs751620093
|
0.00006
|
NM_012414.4(RAB3GAP2):c.*777T>C
|
rs1377423461
|
0.00006
|
NM_021252.5(RAB18):c.*1696T>A
|
rs886046973
|
0.00006
|
NM_021252.5(RAB18):c.36C>A (p.Leu12=)
|
rs61757825
|
0.00006
|
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr)
|
rs190213580
|
0.00006
|
NM_012233.3(RAB3GAP1):c.*1209T>C
|
rs962177642
|
0.00005
|
NM_012233.3(RAB3GAP1):c.*507A>G
|
rs186189305
|
0.00005
|
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His)
|
rs769450409
|
0.00005
|
NM_021252.5(RAB18):c.*2420C>A
|
rs770379811
|
0.00005
|
NM_021252.5(RAB18):c.*764A>G
|
rs749045175
|
0.00005
|
NM_021252.5(RAB18):c.*906A>G
|
rs377745201
|
0.00005
|
NM_012233.3(RAB3GAP1):c.*1898G>A
|
rs1008193661
|
0.00004
|
NM_012233.3(RAB3GAP1):c.*557T>C
|
rs576779170
|
0.00004
|
NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala)
|
rs148190655
|
0.00004
|
NM_012414.4(RAB3GAP2):c.*104T>C
|
rs1041418234
|
0.00004
|
NM_012414.4(RAB3GAP2):c.2981-7C>T
|
rs750436297
|
0.00004
|
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr)
|
rs201514595
|
0.00004
|
NM_021252.5(RAB18):c.*3166C>T
|
rs886046977
|
0.00004
|
NM_021252.5(RAB18):c.-41A>G
|
rs770276006
|
0.00004
|
NM_012233.3(RAB3GAP1):c.*1247T>C
|
rs1027342528
|
0.00003
|
NM_012233.3(RAB3GAP1):c.*324T>G
|
rs886054855
|
0.00003
|
NM_012414.4(RAB3GAP2):c.*2347T>C
|
rs886046010
|
0.00003
|
NM_012414.4(RAB3GAP2):c.*2901G>T
|
rs533792649
|
0.00003
|
NM_012414.4(RAB3GAP2):c.-68C>T
|
rs989511076
|
0.00003
|
NM_012414.4(RAB3GAP2):c.1131-4T>C
|
rs752780415
|
0.00003
|
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys)
|
rs770787571
|
0.00003
|
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=)
|
rs756886302
|
0.00003
|
NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly)
|
rs774771619
|
0.00003
|
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr)
|
rs749444902
|
0.00003
|
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser)
|
rs189536938
|
0.00003
|
NM_021252.5(RAB18):c.*1452G>A
|
rs1045270686
|
0.00003
|
NM_021252.5(RAB18):c.*3330G>C
|
rs537665208
|
0.00003
|
NM_021252.5(RAB18):c.*382C>T
|
rs886046971
|
0.00003
|
NM_021252.5(RAB18):c.*4008C>T
|
rs538921321
|
0.00003
|
NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln)
|
rs201430480
|
0.00002
|
NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln)
|
rs776999297
|
0.00002
|
NM_012414.4(RAB3GAP2):c.*1791T>C
|
rs556118037
|
0.00002
|
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu)
|
rs749859259
|
0.00002
|
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=)
|
rs368788359
|
0.00002
|
NM_021252.5(RAB18):c.*1943G>A
|
rs560571679
|
0.00002
|
NM_021252.5(RAB18):c.*325C>G
|
rs886046970
|
0.00002
|
NM_021252.5(RAB18):c.*3766C>A
|
rs1414340838
|
0.00002
|
NM_021252.5(RAB18):c.*4038A>T
|
rs746250477
|
0.00002
|
NM_021252.5(RAB18):c.*8G>A
|
rs371434806
|
0.00002
|
NM_012233.3(RAB3GAP1):c.*1056G>A
|
rs946863592
|
0.00001
|
NM_012233.3(RAB3GAP1):c.*1272T>C
|
rs1452526339
|
0.00001
|
NM_012233.3(RAB3GAP1):c.*1511G>A
|
rs575731807
|
0.00001
|
NM_012233.3(RAB3GAP1):c.*1543T>C
|
rs1221954343
|
0.00001
|
NM_012233.3(RAB3GAP1):c.*283C>T
|
rs765003230
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr)
|
rs886054852
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp)
|
rs771433559
|
0.00001
|
NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln)
|
rs752599043
|
0.00001
|
NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn)
|
rs1287391427
|
0.00001
|
NM_012414.4(RAB3GAP2):c.*1145del
|
rs886046014
|
0.00001
|
NM_012414.4(RAB3GAP2):c.*2769G>T
|
rs886046006
|
0.00001
|
NM_012414.4(RAB3GAP2):c.*436A>G
|
rs1027206904
|
0.00001
|
NM_012414.4(RAB3GAP2):c.*537G>C
|
rs886046015
|
0.00001
|
NM_012414.4(RAB3GAP2):c.-20T>C
|
rs926169525
|
0.00001
|
NM_012414.4(RAB3GAP2):c.-48A>G
|
rs767297724
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys)
|
rs779972563
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser)
|
rs886046023
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg)
|
rs763764406
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg)
|
rs747104956
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg)
|
rs761157075
|
0.00001
|
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn)
|
rs746962559
|
0.00001
|
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile)
|
rs753147106
|
0.00001
|
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=)
|
rs368216093
|
0.00001
|
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys)
|
rs758604254
|
0.00001
|
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile)
|
rs1378967581
|
0.00001
|
NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala)
|
rs886046024
|
0.00001
|
NM_012414.4(RAB3GAP2):c.3868-8A>G
|
rs886046018
|
0.00001
|
NM_012414.4(RAB3GAP2):c.612+15T>C
|
rs777576498
|
0.00001
|
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln)
|
rs189134236
|
0.00001
|
NM_021252.5(RAB18):c.*1041A>G
|
rs767104854
|
0.00001
|
NM_021252.5(RAB18):c.*1089C>A
|
rs189434439
|
0.00001
|
NM_021252.5(RAB18):c.*1800A>G
|
rs923872579
|
0.00001
|
NM_021252.5(RAB18):c.*2788C>T
|
rs886046974
|
0.00001
|
NM_021252.5(RAB18):c.*3906G>A
|
rs1473295756
|
0.00001
|
NM_021252.5(RAB18):c.*407G>T
|
rs575299893
|
0.00001
|
NM_021252.5(RAB18):c.*560C>T
|
rs1414516239
|
0.00001
|
NM_021252.5(RAB18):c.*62C>T
|
rs886046969
|
0.00001
|
NM_021252.5(RAB18):c.*890G>A
|
rs539207601
|
0.00001
|
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln)
|
rs1203985321
|
0.00001
|
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr)
|
rs886046967
|
0.00001
|
NM_021252.5(RAB18):c.68+10A>G
|
rs886046965
|
0.00001
|
NM_012233.3(RAB3GAP1):c.*1107A>C
|
rs568271625
|
|
NM_012233.3(RAB3GAP1):c.*1208dup
|
rs200869351
|
|
NM_012233.3(RAB3GAP1):c.*1212A>G
|
rs1427874543
|
|
NM_012233.3(RAB3GAP1):c.*174T>C
|
rs886054854
|
|
NM_012233.3(RAB3GAP1):c.*252T>G
|
rs7564565
|
|
NM_012233.3(RAB3GAP1):c.*255T>G
|
rs7564566
|
|
NM_012233.3(RAB3GAP1):c.*547A>G
|
rs886054856
|
|
NM_012233.3(RAB3GAP1):c.*822T>G
|
rs1175250342
|
|
NM_012233.3(RAB3GAP1):c.*985dup
|
rs370069043
|
|
NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu)
|
rs886054851
|
|
NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=)
|
rs780827916
|
|
NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=)
|
rs755867265
|
|
NM_012233.3(RAB3GAP1):c.1924-3C>T
|
rs984857143
|
|
NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=)
|
rs886054853
|
|
NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp)
|
rs748968368
|
|
NM_012233.3(RAB3GAP1):c.2800C>A (p.Pro934Thr)
|
rs77535003
|
|
NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser)
|
rs1688906713
|
|
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=)
|
rs886054850
|
|
NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=)
|
rs779596900
|
|
NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys)
|
rs143078664
|
|
NM_012414.3(RAB3GAP2):c.*2970_*2973dup
|
rs529035209
|
|
NM_012414.4(RAB3GAP2):c.*1087A>C
|
rs1558135886
|
|
NM_012414.4(RAB3GAP2):c.*108T>A
|
rs886046016
|
|
NM_012414.4(RAB3GAP2):c.*1144del
|
rs11316594
|
|
NM_012414.4(RAB3GAP2):c.*1340T>C
|
rs1657714085
|
|
NM_012414.4(RAB3GAP2):c.*1560A>G
|
rs1422943080
|
|
NM_012414.4(RAB3GAP2):c.*2090AAAT[2]
|
rs886046013
|
|
NM_012414.4(RAB3GAP2):c.*2210G>C
|
rs886046012
|
|
NM_012414.4(RAB3GAP2):c.*2336T>G
|
rs1049662170
|
|
NM_012414.4(RAB3GAP2):c.*2338_*2339del
|
rs886046011
|
|
NM_012414.4(RAB3GAP2):c.*2386A>C
|
rs1657684140
|
|
NM_012414.4(RAB3GAP2):c.*2392_*2395dup
|
rs552063647
|
|
NM_012414.4(RAB3GAP2):c.*2512del
|
rs143756119
|
|
NM_012414.4(RAB3GAP2):c.*417A>G
|
rs576040740
|
|
NM_012414.4(RAB3GAP2):c.*509G>A
|
rs1046907825
|
|
NM_012414.4(RAB3GAP2):c.*798_*799dup
|
rs35147354
|
|
NM_012414.4(RAB3GAP2):c.*799dup
|
rs35147354
|
|
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala)
|
rs1658613102
|
|
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=)
|
rs886046022
|
|
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser)
|
rs1658595836
|
|
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg)
|
rs149563712
|
|
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala)
|
rs886046021
|
|
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2]
|
rs764326258
|
|
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys)
|
rs1658438143
|
|
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala)
|
rs1659134905
|
|
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del
|
rs769425345
|
|
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=)
|
rs886046020
|
|
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=)
|
rs1437597491
|
|
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln)
|
rs886046019
|
|
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp)
|
rs886046017
|
|
NM_012414.4(RAB3GAP2):c.613-14del
|
rs572027376
|
|
NM_012414.4(RAB3GAP2):c.613-24dup
|
rs572027376
|
|
NM_021252.4(RAB18):c.-150G>A
|
rs527459548
|
|
NM_021252.4(RAB18):c.-182G>A
|
rs770568854
|
|
NM_021252.4(RAB18):c.-79T>A
|
rs886046964
|
|
NM_021252.5(RAB18):c.*150C>A
|
rs768390542
|
|
NM_021252.5(RAB18):c.*150C>T
|
rs768390542
|
|
NM_021252.5(RAB18):c.*1589T>C
|
rs1017507424
|
|
NM_021252.5(RAB18):c.*1680A>T
|
rs886046972
|
|
NM_021252.5(RAB18):c.*16A>G
|
rs886046968
|
|
NM_021252.5(RAB18):c.*2030G>T
|
rs750141100
|
|
NM_021252.5(RAB18):c.*2085A>C
|
rs1834992154
|
|
NM_021252.5(RAB18):c.*2985T>G
|
rs1835014857
|
|
NM_021252.5(RAB18):c.*3046_*3047dup
|
rs886046976
|
|
NM_021252.5(RAB18):c.*3227A>G
|
rs1835021406
|
|
NM_021252.5(RAB18):c.*3293del
|
rs573606717
|
|
NM_021252.5(RAB18):c.*3599dup
|
rs779470678
|
|
NM_021252.5(RAB18):c.*3701GACT[1]
|
rs759695566
|
|
NM_021252.5(RAB18):c.*3832C>A
|
rs373663292
|
|
NM_021252.5(RAB18):c.*4039A>C
|
rs886046982
|
|
NM_021252.5(RAB18):c.*822T>C
|
rs1834959018
|
|
NM_021252.5(RAB18):c.*99C>T
|
rs767920219
|
|
NM_021252.5(RAB18):c.270C>A (p.Val90=)
|
rs750139202
|
|
NM_021252.5(RAB18):c.298G>C (p.Asp100His)
|
rs748274360
|
|