NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.61566
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.16167
|
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)
|
rs534165083
|
0.12965
|
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)
|
rs62637566
|
0.12851
|
NM_014694.4(ADAMTSL2):c.2436C>T (p.Arg812=)
|
rs61733946
|
0.07271
|
NM_001104631.2(PDE4D):c.*4886A>C
|
rs17291089
|
0.07219
|
NM_005359.6(SMAD4):c.*5547A>G
|
rs11662245
|
0.07079
|
NM_014694.4(ADAMTSL2):c.2325C>G (p.Ser775=)
|
rs2301606
|
0.03001
|
NM_014694.4(ADAMTSL2):c.2416-9C>T
|
rs111906016
|
0.02249
|
NM_014694.4(ADAMTSL2):c.2049C>T (p.Pro683=)
|
rs886063644
|
0.01990
|
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser)
|
rs752071055
|
0.01748
|
NM_005359.6(SMAD4):c.*5553A>G
|
rs867342943
|
0.01606
|
NM_005359.6(SMAD4):c.*5534C>G
|
rs923444877
|
0.01573
|
NM_005359.6(SMAD4):c.*5555A>G
|
rs1047967021
|
0.01458
|
NM_014694.4(ADAMTSL2):c.*595G>A
|
rs538282848
|
0.01292
|
NM_005359.6(SMAD4):c.*5545G>A
|
rs752846586
|
0.01214
|
NM_014694.4(ADAMTSL2):c.*424G>T
|
rs1036483978
|
0.01060
|
NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=)
|
rs368922820
|
0.01033
|
NM_014694.4(ADAMTSL2):c.*287C>A
|
rs868340954
|
0.00843
|
NM_014694.4(ADAMTSL2):c.2089-4C>A
|
rs368200205
|
0.00799
|
NM_014694.4(ADAMTSL2):c.1815C>T (p.Asp605=)
|
rs369366346
|
0.00796
|
NM_014694.4(ADAMTSL2):c.1557C>T (p.Ser519=)
|
rs62637565
|
0.00763
|
NM_005359.6(SMAD4):c.*5549A>G
|
rs777856072
|
0.00617
|
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=)
|
rs886050982
|
0.00563
|
NM_005359.6(SMAD4):c.*5557A>G
|
rs1414914656
|
0.00550
|
NM_005359.6(SMAD4):c.*5578G>C
|
rs867684157
|
0.00469
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_139057.4(ADAMTS17):c.*1448C>T
|
rs188903672
|
0.00353
|
NM_014694.4(ADAMTSL2):c.*483A>C
|
rs1050057510
|
0.00338
|
NM_005359.6(SMAD4):c.*5551A>G
|
rs202140561
|
0.00329
|
NM_000428.3(LTBP2):c.*705C>T
|
rs41307092
|
0.00320
|
NM_014694.4(ADAMTSL2):c.2007C>T (p.Ala669=)
|
rs372073271
|
0.00293
|
NM_001104631.2(PDE4D):c.*2100C>T
|
rs577109679
|
0.00280
|
NM_030957.4(ADAMTS10):c.*630C>T
|
rs187201074
|
0.00235
|
NM_000428.3(LTBP2):c.3527-14T>C
|
rs137854886
|
0.00233
|
NM_139057.4(ADAMTS17):c.*1685G>A
|
rs573719295
|
0.00232
|
NM_014694.4(ADAMTSL2):c.*610G>A
|
rs746098742
|
0.00228
|
NM_000428.3(LTBP2):c.807C>T (p.Pro269=)
|
rs61738024
|
0.00219
|
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)
|
rs146934810
|
0.00209
|
NM_001104631.2(PDE4D):c.*2653C>T
|
rs13172038
|
0.00201
|
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=)
|
rs149953380
|
0.00193
|
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=)
|
rs61757472
|
0.00183
|
NM_000428.3(LTBP2):c.*1631C>T
|
rs183119073
|
0.00178
|
NM_139057.4(ADAMTS17):c.*2511A>G
|
rs145561763
|
0.00178
|
NM_139057.4(ADAMTS17):c.*1766G>A
|
rs139353567
|
0.00171
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001104631.2(PDE4D):c.*2747G>A
|
rs557226166
|
0.00156
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met)
|
rs117800773
|
0.00149
|
NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln)
|
rs553955759
|
0.00145
|
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=)
|
rs145851939
|
0.00139
|
NM_014694.4(ADAMTSL2):c.*242C>T
|
rs372143951
|
0.00139
|
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu)
|
rs143817747
|
0.00136
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=)
|
rs142320702
|
0.00133
|
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile)
|
rs145897018
|
0.00129
|
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=)
|
rs151176143
|
0.00128
|
NM_139057.4(ADAMTS17):c.*2220G>A
|
rs559688841
|
0.00128
|
NM_139057.4(ADAMTS17):c.*2616G>A
|
rs375704403
|
0.00124
|
NM_014714.4(IFT140):c.546C>T (p.Asp182=)
|
rs150014480
|
0.00120
|
NM_014694.4(ADAMTSL2):c.2592+13C>T
|
rs562213175
|
0.00115
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_000428.3(LTBP2):c.-55G>A
|
rs571506111
|
0.00109
|
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met)
|
rs202189990
|
0.00109
|
NM_139057.4(ADAMTS17):c.*2479C>G
|
rs540696412
|
0.00105
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_001104631.2(PDE4D):c.*535A>G
|
rs781074391
|
0.00103
|
NM_139057.4(ADAMTS17):c.*742C>T
|
rs555201429
|
0.00102
|
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)
|
rs143891379
|
0.00100
|
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val)
|
rs141952128
|
0.00096
|
NM_000428.3(LTBP2):c.*2569G>A
|
rs531824728
|
0.00094
|
NM_014714.4(IFT140):c.1824A>G (p.Thr608=)
|
rs35433680
|
0.00094
|
NM_000428.3(LTBP2):c.*743G>A
|
rs541978964
|
0.00092
|
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=)
|
rs145206425
|
0.00092
|
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser)
|
rs139138043
|
0.00089
|
NM_014694.4(ADAMTSL2):c.1222G>A (p.Glu408Lys)
|
rs757873971
|
0.00088
|
NM_014694.4(ADAMTSL2):c.690T>C (p.Ser230=)
|
rs142777315
|
0.00087
|
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)
|
rs141392067
|
0.00086
|
NM_139057.4(ADAMTS17):c.*2279G>A
|
rs529729790
|
0.00083
|
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu)
|
rs149952751
|
0.00082
|
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
|
rs141993139
|
0.00081
|
NM_014714.4(IFT140):c.1788T>C (p.Asp596=)
|
rs148904634
|
0.00079
|
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala)
|
rs946108501
|
0.00077
|
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=)
|
rs139059770
|
0.00075
|
NM_000138.5(FBN1):c.*2091G>A
|
rs575922741
|
0.00073
|
NM_014694.4(ADAMTSL2):c.2036C>G (p.Thr679Ser)
|
rs948210454
|
0.00073
|
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu)
|
rs139018077
|
0.00072
|
NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His)
|
rs144166844
|
0.00071
|
NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val)
|
rs142675579
|
0.00068
|
NM_030957.4(ADAMTS10):c.1743C>T (p.Ile581=)
|
rs147694025
|
0.00067
|
NM_005359.6(SMAD4):c.*202A>G
|
rs765823244
|
0.00064
|
NM_139057.4(ADAMTS17):c.*2790C>G
|
rs529656441
|
0.00063
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_001104631.2(PDE4D):c.*5295G>T
|
rs143961299
|
0.00061
|
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=)
|
rs150055188
|
0.00061
|
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=)
|
rs146651611
|
0.00061
|
NM_005359.6(SMAD4):c.*2962C>T
|
rs543699844
|
0.00059
|
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=)
|
rs747636994
|
0.00059
|
NM_002734.5(PRKAR1A):c.*2197G>A
|
rs533508012
|
0.00058
|
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val)
|
rs45468895
|
0.00057
|
NM_002734.5(PRKAR1A):c.-16C>A
|
rs886053305
|
0.00057
|
NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=)
|
rs144521879
|
0.00056
|
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=)
|
rs139030976
|
0.00056
|
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu)
|
rs28403592
|
0.00056
|
NM_014694.4(ADAMTSL2):c.*496C>T
|
rs865954704
|
0.00056
|
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro)
|
rs140930935
|
0.00056
|
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu)
|
rs147286623
|
0.00055
|
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=)
|
rs140719298
|
0.00053
|
NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile)
|
rs149991486
|
0.00053
|
NM_005359.6(SMAD4):c.*1874C>G
|
rs761701805
|
0.00053
|
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln)
|
rs151257275
|
0.00053
|
NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile)
|
rs145507464
|
0.00051
|
NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys)
|
rs140493259
|
0.00051
|
NM_014714.4(IFT140):c.*153C>T
|
rs760987640
|
0.00051
|
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=)
|
rs200551849
|
0.00051
|
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=)
|
rs150290429
|
0.00051
|
NM_005359.6(SMAD4):c.*5541G>A
|
rs1025975410
|
0.00050
|
NM_000428.3(LTBP2):c.-93C>T
|
rs769936231
|
0.00049
|
NM_000428.3(LTBP2):c.1686+3G>A
|
rs190814774
|
0.00049
|
NM_002734.5(PRKAR1A):c.*893G>C
|
rs186568426
|
0.00049
|
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp)
|
rs139904243
|
0.00048
|
NM_014714.4(IFT140):c.1593G>T (p.Gly531=)
|
rs143491016
|
0.00048
|
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly)
|
rs144938800
|
0.00048
|
NM_005359.6(SMAD4):c.*6522C>T
|
rs183472455
|
0.00047
|
NM_002734.5(PRKAR1A):c.-53C>T
|
rs886053304
|
0.00044
|
NM_030957.4(ADAMTS10):c.1265C>T (p.Ala422Val)
|
rs138620046
|
0.00044
|
NM_014714.4(IFT140):c.2067G>A (p.Ala689=)
|
rs143537808
|
0.00043
|
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)
|
rs145814071
|
0.00043
|
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=)
|
rs146464282
|
0.00043
|
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)
|
rs113216558
|
0.00043
|
NM_014694.4(ADAMTSL2):c.*622C>G
|
rs886063655
|
0.00042
|
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)
|
rs137854860
|
0.00041
|
NM_001104631.2(PDE4D):c.*403G>A
|
rs752738157
|
0.00041
|
NM_014694.4(ADAMTSL2):c.1911C>T (p.Thr637=)
|
rs891412360
|
0.00040
|
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys)
|
rs143689354
|
0.00039
|
NM_000428.3(LTBP2):c.*229C>T
|
rs141989493
|
0.00038
|
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)
|
rs144028766
|
0.00038
|
NM_014694.4(ADAMTSL2):c.1006G>A (p.Glu336Lys)
|
rs753606710
|
0.00037
|
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=)
|
rs143899594
|
0.00037
|
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr)
|
rs137914200
|
0.00036
|
NM_005359.6(SMAD4):c.*4066C>T
|
rs772166247
|
0.00036
|
NM_139057.4(ADAMTS17):c.-22G>A
|
rs760846321
|
0.00036
|
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=)
|
rs149252796
|
0.00036
|
NM_014112.5(TRPS1):c.*338del
|
rs530055629
|
0.00035
|
NM_030957.4(ADAMTS10):c.303C>T (p.His101=)
|
rs141630862
|
0.00035
|
NM_139057.4(ADAMTS17):c.*2690G>A
|
rs566216613
|
0.00035
|
NM_139057.4(ADAMTS17):c.-69C>T
|
rs534119279
|
0.00035
|
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys)
|
rs367651794
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=)
|
rs113219139
|
0.00034
|
NM_001104631.2(PDE4D):c.*2003T>C
|
rs577458431
|
0.00034
|
NM_001104631.2(PDE4D):c.*2004C>A
|
rs760686759
|
0.00034
|
NM_014694.4(ADAMTSL2):c.1590A>G (p.Pro530=)
|
rs886063643
|
0.00034
|
NM_014714.4(IFT140):c.369+12C>T
|
rs192986766
|
0.00034
|
NM_139057.4(ADAMTS17):c.*1684C>T
|
rs768887596
|
0.00034
|
NM_000428.3(LTBP2):c.1789+7G>A
|
rs200259519
|
0.00033
|
NM_002734.5(PRKAR1A):c.*722A>G
|
rs555951287
|
0.00033
|
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)
|
rs143896591
|
0.00033
|
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)
|
rs137854861
|
0.00032
|
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg)
|
rs374099324
|
0.00032
|
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu)
|
rs143282840
|
0.00032
|
NM_005359.6(SMAD4):c.-495C>G
|
rs886053886
|
0.00032
|
NM_014694.4(ADAMTSL2):c.682+13G>A
|
rs368262959
|
0.00032
|
NM_014714.4(IFT140):c.1360-14G>A
|
rs369246649
|
0.00032
|
NM_030957.4(ADAMTS10):c.*146G>A
|
rs910156203
|
0.00032
|
NM_014694.4(ADAMTSL2):c.1320C>T (p.Asp440=)
|
rs113136530
|
0.00031
|
NM_014694.4(ADAMTSL2):c.2533G>A (p.Glu845Lys)
|
rs199711623
|
0.00031
|
NM_014714.4(IFT140):c.2586C>T (p.Ala862=)
|
rs148557575
|
0.00031
|
NM_139057.4(ADAMTS17):c.*2275A>G
|
rs778643467
|
0.00031
|
NM_000428.3(LTBP2):c.2789-9T>C
|
rs368269193
|
0.00030
|
NM_000138.5(FBN1):c.*1720C>T
|
rs557301792
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000428.3(LTBP2):c.*312T>C
|
rs534807623
|
0.00029
|
NM_139057.4(ADAMTS17):c.*1763C>T
|
rs550240800
|
0.00029
|
NM_139057.4(ADAMTS17):c.789+9G>A
|
rs377670601
|
0.00029
|
NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=)
|
rs191009072
|
0.00028
|
NM_000138.5(FBN1):c.-136G>C
|
rs879283668
|
0.00027
|
NM_014694.4(ADAMTSL2):c.1283A>G (p.Asn428Ser)
|
rs760679391
|
0.00027
|
NM_014694.4(ADAMTSL2):c.2469G>A (p.Glu823=)
|
rs987965913
|
0.00027
|
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)
|
rs141993646
|
0.00027
|
NM_000138.5(FBN1):c.*1949T>C
|
rs534577080
|
0.00026
|
NM_000428.3(LTBP2):c.*167G>A
|
rs574028105
|
0.00026
|
NM_002734.5(PRKAR1A):c.-25C>T
|
rs546338099
|
0.00026
|
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr)
|
rs148663745
|
0.00026
|
NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=)
|
rs142602984
|
0.00026
|
NM_139057.4(ADAMTS17):c.*2138C>T
|
rs185690662
|
0.00026
|
NM_139057.4(ADAMTS17):c.*572T>C
|
rs751250175
|
0.00026
|
NM_001104631.2(PDE4D):c.*5190A>G
|
rs886060701
|
0.00025
|
NM_030957.4(ADAMTS10):c.*356G>A
|
rs141523849
|
0.00025
|
NM_139057.4(ADAMTS17):c.*2422C>T
|
rs528644699
|
0.00025
|
NM_139057.4(ADAMTS17):c.*519T>C
|
rs886050966
|
0.00025
|
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met)
|
rs140998386
|
0.00025
|
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp)
|
rs61757475
|
0.00025
|
NM_000138.5(FBN1):c.*1706C>A
|
rs770825180
|
0.00024
|
NM_000428.3(LTBP2):c.2184C>T (p.His728=)
|
rs140818407
|
0.00024
|
NM_002734.5(PRKAR1A):c.*1687T>C
|
rs986574420
|
0.00024
|
NM_014694.4(ADAMTSL2):c.*609C>T
|
rs886063654
|
0.00024
|
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)
|
rs141471091
|
0.00024
|
NM_139057.4(ADAMTS17):c.*4G>A
|
rs200989311
|
0.00024
|
NM_001104631.2(PDE4D):c.*414T>C
|
rs1030455444
|
0.00023
|
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=)
|
rs563938783
|
0.00023
|
NM_000138.5(FBN1):c.*1432A>T
|
rs750902806
|
0.00022
|
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His)
|
rs143010135
|
0.00022
|
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu)
|
rs191944410
|
0.00022
|
NM_014694.4(ADAMTSL2):c.1113C>T (p.Tyr371=)
|
rs1044402763
|
0.00022
|
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)
|
rs148093208
|
0.00022
|
NM_019023.5(PRMT7):c.1945G>A (p.Val649Ile)
|
rs143131470
|
0.00022
|
NM_030957.4(ADAMTS10):c.-99-3C>T
|
rs1047616409
|
0.00022
|
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_139057.4(ADAMTS17):c.*419C>T
|
rs1038576369
|
0.00022
|
NM_000428.3(LTBP2):c.*1005C>T
|
rs541743695
|
0.00021
|
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys)
|
rs201591982
|
0.00021
|
NM_002734.5(PRKAR1A):c.*1346A>G
|
rs545417998
|
0.00021
|
NM_002734.5(PRKAR1A):c.*233C>T
|
rs531560526
|
0.00021
|
NM_002734.5(PRKAR1A):c.*384C>T
|
rs142203044
|
0.00021
|
NM_005359.6(SMAD4):c.*4262T>G
|
rs371901376
|
0.00021
|
NM_014714.4(IFT140):c.3271-4G>A
|
rs200815296
|
0.00021
|
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)
|
rs145718272
|
0.00021
|
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn)
|
rs139286030
|
0.00021
|
NM_014714.4(IFT140):c.1230G>A (p.Ser410=)
|
rs199840711
|
0.00020
|
NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys)
|
rs550588972
|
0.00020
|
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys)
|
rs200673902
|
0.00020
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000428.3(LTBP2):c.*1180C>T
|
rs576929018
|
0.00019
|
NM_000428.3(LTBP2):c.568G>A (p.Val190Ile)
|
rs558742251
|
0.00019
|
NM_001104631.2(PDE4D):c.*3863T>C
|
rs866405146
|
0.00019
|
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)
|
rs149642543
|
0.00019
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_139057.4(ADAMTS17):c.*2379C>T
|
rs182417427
|
0.00019
|
NM_139057.4(ADAMTS17):c.*966G>T
|
rs886050963
|
0.00019
|
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro)
|
rs200371613
|
0.00019
|
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met)
|
rs142633005
|
0.00019
|
NM_139057.4(ADAMTS17):c.3275C>T (p.Pro1092Leu)
|
rs201896149
|
0.00019
|
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly)
|
rs886050979
|
0.00019
|
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe)
|
rs141367283
|
0.00019
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_014694.4(ADAMTSL2):c.*129G>A
|
rs758945328
|
0.00018
|
NM_014694.4(ADAMTSL2):c.1477G>A (p.Glu493Lys)
|
rs886063642
|
0.00018
|
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu)
|
rs148766628
|
0.00017
|
NM_030957.4(ADAMTS10):c.-60G>A
|
rs573082154
|
0.00017
|
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=)
|
rs145594305
|
0.00017
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_000428.3(LTBP2):c.*55G>A
|
rs185374765
|
0.00016
|
NM_000516.7(GNAS):c.312+36C>T
|
rs200066108
|
0.00016
|
NM_001104631.2(PDE4D):c.*1268T>C
|
rs886060709
|
0.00016
|
NM_014714.4(IFT140):c.-317T>A
|
rs866146909
|
0.00016
|
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)
|
rs575196272
|
0.00016
|
NM_139057.4(ADAMTS17):c.*2598T>C
|
rs754478048
|
0.00016
|
NM_139057.4(ADAMTS17):c.3127+12C>T
|
rs200475413
|
0.00016
|
NM_001104631.2(PDE4D):c.*310C>A
|
rs558677290
|
0.00015
|
NM_002734.5(PRKAR1A):c.*724T>A
|
rs746409603
|
0.00015
|
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
|
rs202129528
|
0.00015
|
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly)
|
rs201734269
|
0.00015
|
NM_139057.4(ADAMTS17):c.3100G>A (p.Ala1034Thr)
|
rs527897248
|
0.00015
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_001104631.2(PDE4D):c.*58G>A
|
rs963578789
|
0.00014
|
NM_002734.5(PRKAR1A):c.*2196C>T
|
rs886053320
|
0.00014
|
NM_014694.4(ADAMTSL2):c.1198G>A (p.Gly400Ser)
|
rs886063639
|
0.00014
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)
|
rs150498538
|
0.00014
|
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys)
|
rs146277966
|
0.00014
|
NM_030957.4(ADAMTS10):c.-153G>A
|
rs568567704
|
0.00014
|
NM_139057.4(ADAMTS17):c.*1127C>T
|
rs766519775
|
0.00014
|
NM_139057.4(ADAMTS17):c.*464C>T
|
rs148258011
|
0.00014
|
NM_000428.3(LTBP2):c.-170G>T
|
rs892707408
|
0.00013
|
NM_000428.3(LTBP2):c.2178C>T (p.Ala726=)
|
rs144866585
|
0.00013
|
NM_000428.3(LTBP2):c.21C>G (p.Ala7=)
|
rs757559806
|
0.00013
|
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln)
|
rs79886273
|
0.00013
|
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=)
|
rs546041607
|
0.00013
|
NM_001104631.2(PDE4D):c.*1924T>C
|
rs749539498
|
0.00013
|
NM_002734.5(PRKAR1A):c.*1014A>G
|
rs886053311
|
0.00013
|
NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn)
|
rs886062623
|
0.00013
|
NM_014112.5(TRPS1):c.3400G>A (p.Val1134Ile)
|
rs143500511
|
0.00013
|
NM_014714.4(IFT140):c.*46T>G
|
rs761282751
|
0.00013
|
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys)
|
rs1259402740
|
0.00013
|
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln)
|
rs138596995
|
0.00013
|
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)
|
rs150129370
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_030957.4(ADAMTS10):c.*36T>C
|
rs782348033
|
0.00013
|
NM_030957.4(ADAMTS10):c.1395G>A (p.Pro465=)
|
rs367671600
|
0.00013
|
NM_139057.4(ADAMTS17):c.*1065G>A
|
rs886050959
|
0.00013
|
NM_139057.4(ADAMTS17):c.*2193G>C
|
rs886050955
|
0.00013
|
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His)
|
rs201503183
|
0.00013
|
NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp)
|
rs147534770
|
0.00012
|
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu)
|
rs141230498
|
0.00012
|
NM_001104631.2(PDE4D):c.*2604A>C
|
rs542930751
|
0.00012
|
NM_005359.6(SMAD4):c.*1187A>G
|
rs181664459
|
0.00012
|
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala)
|
rs373510969
|
0.00012
|
NM_014694.4(ADAMTSL2):c.885C>T (p.Thr295=)
|
rs772868128
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_014714.4(IFT140):c.2768+12C>T
|
rs756491638
|
0.00012
|
NM_139057.4(ADAMTS17):c.*611C>T
|
rs906820389
|
0.00012
|
NM_000138.5(FBN1):c.*2037T>C
|
rs544842106
|
0.00011
|
NM_000138.5(FBN1):c.*2556G>A
|
rs886051221
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His)
|
rs75200417
|
0.00011
|
NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile)
|
rs139734678
|
0.00011
|
NM_000428.3(LTBP2):c.565C>T (p.Pro189Ser)
|
rs199581921
|
0.00011
|
NM_001104631.2(PDE4D):c.*1034C>T
|
rs886060710
|
0.00011
|
NM_001104631.2(PDE4D):c.*3492T>G
|
rs949531257
|
0.00011
|
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser)
|
rs757175453
|
0.00011
|
NM_005359.6(SMAD4):c.*1661C>A
|
rs989803194
|
0.00011
|
NM_005359.6(SMAD4):c.*2217G>A
|
rs1035391862
|
0.00011
|
NM_005359.6(SMAD4):c.*5096C>A
|
rs761008429
|
0.00011
|
NM_014112.5(TRPS1):c.3140C>T (p.Pro1047Leu)
|
rs200876887
|
0.00011
|
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)
|
rs201949058
|
0.00011
|
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)
|
rs146480546
|
0.00011
|
NM_014714.4(IFT140):c.2724C>T (p.Ala908=)
|
rs138166567
|
0.00011
|
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His)
|
rs147661907
|
0.00011
|
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
|
rs751861503
|
0.00011
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
NM_014714.4(IFT140):c.634+6G>C
|
rs368229365
|
0.00011
|
NM_030957.4(ADAMTS10):c.1149C>T (p.Gly383=)
|
rs373993156
|
0.00011
|
NM_030957.4(ADAMTS10):c.1956G>A (p.Thr652=)
|
rs148493665
|
0.00011
|
NM_139057.4(ADAMTS17):c.*2234G>C
|
rs1040541256
|
0.00011
|
NM_139057.4(ADAMTS17):c.*2480G>A
|
rs573353500
|
0.00011
|
NM_139057.4(ADAMTS17):c.*359A>G
|
rs150430121
|
0.00011
|
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=)
|
rs550282581
|
0.00011
|
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met)
|
rs371570653
|
0.00011
|
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=)
|
rs562333691
|
0.00010
|
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile)
|
rs745626701
|
0.00010
|
NM_001104631.2(PDE4D):c.*1295G>A
|
rs556877242
|
0.00010
|
NM_001104631.2(PDE4D):c.*2166del
|
rs747331829
|
0.00010
|
NM_005359.6(SMAD4):c.*1812T>G
|
rs557065270
|
0.00010
|
NM_005359.6(SMAD4):c.*5235C>G
|
rs755051361
|
0.00010
|
NM_005359.6(SMAD4):c.*5576C>G
|
rs886053930
|
0.00010
|
NM_014112.5(TRPS1):c.-487A>C
|
rs886062633
|
0.00010
|
NM_014714.4(IFT140):c.*118G>A
|
rs372303683
|
0.00010
|
NM_014714.4(IFT140):c.128T>C (p.Val43Ala)
|
rs372148301
|
0.00010
|
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
|
rs749099710
|
0.00010
|
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)
|
rs145645423
|
0.00010
|
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg)
|
rs146163533
|
0.00010
|
NM_139057.4(ADAMTS17):c.*1288C>T
|
rs902901073
|
0.00010
|
NM_139057.4(ADAMTS17):c.*1600C>T
|
rs185290147
|
0.00010
|
NM_139057.4(ADAMTS17):c.*2291G>A
|
rs750700990
|
0.00010
|
NM_139057.4(ADAMTS17):c.*2425G>A
|
rs868757417
|
0.00010
|
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=)
|
rs565893965
|
0.00010
|
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser)
|
rs200327256
|
0.00010
|
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser)
|
rs1042212825
|
0.00010
|
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=)
|
rs146286415
|
0.00010
|
NM_000138.5(FBN1):c.*1981C>T
|
rs1054860347
|
0.00009
|
NM_000138.5(FBN1):c.*2044C>T
|
rs561911965
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)
|
rs371940681
|
0.00009
|
NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr)
|
rs368195399
|
0.00009
|
NM_001104631.2(PDE4D):c.*1278C>T
|
rs775984561
|
0.00009
|
NM_001104631.2(PDE4D):c.*1572A>G
|
rs961856114
|
0.00009
|
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=)
|
rs1345148257
|
0.00009
|
NM_005359.6(SMAD4):c.*3763C>T
|
rs571174422
|
0.00009
|
NM_005359.6(SMAD4):c.*969A>G
|
rs745934938
|
0.00009
|
NM_014694.4(ADAMTSL2):c.1137G>A (p.Leu379=)
|
rs1052592021
|
0.00009
|
NM_014694.4(ADAMTSL2):c.1257C>T (p.Pro419=)
|
rs1476263916
|
0.00009
|
NM_014694.4(ADAMTSL2):c.412+10G>A
|
rs375029785
|
0.00009
|
NM_014694.4(ADAMTSL2):c.798C>T (p.Asn266=)
|
rs370348176
|
0.00009
|
NM_014694.4(ADAMTSL2):c.987G>A (p.Thr329=)
|
rs932262126
|
0.00009
|
NM_014714.4(IFT140):c.*430G>A
|
rs532233762
|
0.00009
|
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)
|
rs183261797
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)
|
rs145746065
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
NM_014714.4(IFT140):c.633C>T (p.Asp211=)
|
rs201319525
|
0.00009
|
NM_030957.4(ADAMTS10):c.1085-10G>A
|
rs374055293
|
0.00009
|
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His)
|
rs370179236
|
0.00009
|
NM_030957.4(ADAMTS10):c.2415G>A (p.Arg805=)
|
rs782638735
|
0.00009
|
NM_139057.4(ADAMTS17):c.*2185G>C
|
rs540201674
|
0.00009
|
NM_139057.4(ADAMTS17):c.1889-14C>T
|
rs374520210
|
0.00009
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu)
|
rs201372116
|
0.00008
|
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=)
|
rs763990884
|
0.00008
|
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=)
|
rs61738022
|
0.00008
|
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met)
|
rs376875568
|
0.00008
|
NM_014694.4(ADAMTSL2):c.1095G>A (p.Pro365=)
|
rs776340163
|
0.00008
|
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe)
|
rs751137317
|
0.00008
|
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln)
|
rs762399912
|
0.00008
|
NM_014714.4(IFT140):c.2067+4C>T
|
rs111785408
|
0.00008
|
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)
|
rs538791217
|
0.00008
|
NM_014714.4(IFT140):c.2543G>A (p.Arg848His)
|
rs746743309
|
0.00008
|
NM_014714.4(IFT140):c.3947A>T (p.Lys1316Met)
|
rs1288732698
|
0.00008
|
NM_030957.4(ADAMTS10):c.*311A>G
|
rs1045796093
|
0.00008
|
NM_080425.4(GNAS):c.1422C>T (p.Pro474=)
|
rs532475771
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_139057.4(ADAMTS17):c.*421G>C
|
rs886050968
|
0.00008
|
NM_139057.4(ADAMTS17):c.789+15G>A
|
rs374137320
|
0.00008
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000428.3(LTBP2):c.*2026T>C
|
rs886050748
|
0.00007
|
NM_000428.3(LTBP2):c.-64C>T
|
rs886050762
|
0.00007
|
NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp)
|
rs773927709
|
0.00007
|
NM_000428.3(LTBP2):c.2908+9C>T
|
rs1004486722
|
0.00007
|
NM_000428.3(LTBP2):c.3193C>T (p.Leu1065Phe)
|
rs150855472
|
0.00007
|
NM_000428.3(LTBP2):c.654C>T (p.Cys218=)
|
rs375324850
|
0.00007
|
NM_001104631.2(PDE4D):c.*4703A>G
|
rs186917544
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_002734.5(PRKAR1A):c.*1062A>G
|
rs752303671
|
0.00007
|
NM_002734.5(PRKAR1A):c.*331G>A
|
rs1001484586
|
0.00007
|
NM_005359.6(SMAD4):c.*5542C>T
|
rs778816929
|
0.00007
|
NM_005359.6(SMAD4):c.*5833G>A
|
rs190039588
|
0.00007
|
NM_014694.4(ADAMTSL2):c.1068C>T (p.Asp356=)
|
rs1026897116
|
0.00007
|
NM_014694.4(ADAMTSL2):c.651G>A (p.Thr217=)
|
rs148191166
|
0.00007
|
NM_014714.4(IFT140):c.1010-10C>T
|
rs376722338
|
0.00007
|
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)
|
rs778311141
|
0.00007
|
NM_014714.4(IFT140):c.1653-14C>T
|
rs148433720
|
0.00007
|
NM_014714.4(IFT140):c.2067+5G>A
|
rs370629233
|
0.00007
|
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe)
|
rs137966471
|
0.00007
|
NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys)
|
rs368922367
|
0.00007
|
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)
|
rs757585192
|
0.00007
|
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)
|
rs758535401
|
0.00007
|
NM_019023.5(PRMT7):c.499G>A (p.Val167Met)
|
rs138763605
|
0.00007
|
NM_030957.4(ADAMTS10):c.2130C>T (p.Gly710=)
|
rs183691340
|
0.00007
|
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser)
|
rs746247739
|
0.00007
|
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu)
|
rs201356815
|
0.00007
|
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His)
|
rs201920741
|
0.00007
|
NM_000138.5(FBN1):c.*2592T>C
|
rs752936528
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000428.3(LTBP2):c.*1743C>T
|
rs781717691
|
0.00006
|
NM_000428.3(LTBP2):c.5410T>C (p.Cys1804Arg)
|
rs776552082
|
0.00006
|
NM_000428.3(LTBP2):c.989C>T (p.Ala330Val)
|
rs780864087
|
0.00006
|
NM_002734.5(PRKAR1A):c.*156C>T
|
rs535007635
|
0.00006
|
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)
|
rs146383819
|
0.00006
|
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn)
|
rs755798109
|
0.00006
|
NM_005359.6(SMAD4):c.*2793T>G
|
rs886053909
|
0.00006
|
NM_005359.6(SMAD4):c.*5745T>C
|
rs780866822
|
0.00006
|
NM_005359.6(SMAD4):c.*81T>G
|
rs886053894
|
0.00006
|
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met)
|
rs61758125
|
0.00006
|
NM_014694.4(ADAMTSL2):c.1274G>A (p.Arg425Gln)
|
rs757684437
|
0.00006
|
NM_014694.4(ADAMTSL2):c.1626C>T (p.Ala542=)
|
rs985213789
|
0.00006
|
NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=)
|
rs372783597
|
0.00006
|
NM_014694.4(ADAMTSL2):c.999G>A (p.Pro333=)
|
rs766276641
|
0.00006
|
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr)
|
rs200292484
|
0.00006
|
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)
|
rs147556035
|
0.00006
|
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)
|
rs781160807
|
0.00006
|
NM_014714.4(IFT140):c.1327G>A (p.Asp443Asn)
|
rs538562131
|
0.00006
|
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)
|
rs748463111
|
0.00006
|
NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln)
|
rs768971224
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp)
|
rs142342085
|
0.00006
|
NM_014714.4(IFT140):c.2965C>T (p.Arg989Cys)
|
rs147756729
|
0.00006
|
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)
|
rs756324852
|
0.00006
|
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)
|
rs369425839
|
0.00006
|
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)
|
rs555330165
|
0.00006
|
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)
|
rs566568065
|
0.00006
|
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)
|
rs149359139
|
0.00006
|
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)
|
rs771632573
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_019023.5(PRMT7):c.1726G>A (p.Glu576Lys)
|
rs377019678
|
0.00006
|
NM_030957.4(ADAMTS10):c.1176C>T (p.His392=)
|
rs371013844
|
0.00006
|
NM_030957.4(ADAMTS10):c.613C>T (p.Arg205Trp)
|
rs147270233
|
0.00006
|
NM_030957.4(ADAMTS10):c.628C>T (p.Arg210Trp)
|
rs199972750
|
0.00006
|
NM_139057.4(ADAMTS17):c.*2316C>G
|
rs886050954
|
0.00006
|
NM_139057.4(ADAMTS17):c.*2429G>A
|
rs886050952
|
0.00006
|
NM_139057.4(ADAMTS17):c.*2878C>T
|
rs886050950
|
0.00006
|
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg)
|
rs145156568
|
0.00006
|
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=)
|
rs760290195
|
0.00006
|
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=)
|
rs200766799
|
0.00006
|
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=)
|
rs374725364
|
0.00006
|
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys)
|
rs754980579
|
0.00006
|
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser)
|
rs150132039
|
0.00006
|
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=)
|
rs377212581
|
0.00006
|
NM_000138.5(FBN1):c.-123C>A
|
rs1004900313
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_000428.3(LTBP2):c.2388+8C>T
|
rs201838800
|
0.00005
|
NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile)
|
rs771319126
|
0.00005
|
NM_000428.3(LTBP2):c.2852C>T (p.Ser951Leu)
|
rs773718655
|
0.00005
|
NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys)
|
rs769155905
|
0.00005
|
NM_000428.3(LTBP2):c.4178-6G>A
|
rs551478195
|
0.00005
|
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg)
|
rs370119182
|
0.00005
|
NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met)
|
rs189020867
|
0.00005
|
NM_001104631.2(PDE4D):c.*2383G>A
|
rs185766952
|
0.00005
|
NM_001104631.2(PDE4D):c.*3875G>A
|
rs886060704
|
0.00005
|
NM_001104631.2(PDE4D):c.*3892G>A
|
rs1046069326
|
0.00005
|
NM_001104631.2(PDE4D):c.*5283A>G
|
rs866638632
|
0.00005
|
NM_005359.6(SMAD4):c.*1067G>A
|
rs542839921
|
0.00005
|
NM_005359.6(SMAD4):c.*218A>G
|
rs886053895
|
0.00005
|
NM_014694.4(ADAMTSL2):c.*632A>G
|
rs945241182
|
0.00005
|
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln)
|
rs780189760
|
0.00005
|
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)
|
rs199758112
|
0.00005
|
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys)
|
rs774690522
|
0.00005
|
NM_014714.4(IFT140):c.2817G>A (p.Ser939=)
|
rs373651150
|
0.00005
|
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys)
|
rs368830697
|
0.00005
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)
|
rs150276786
|
0.00005
|
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser)
|
rs141986611
|
0.00005
|
NM_030957.4(ADAMTS10):c.3043-8C>T
|
rs759098979
|
0.00005
|
NM_139057.4(ADAMTS17):c.*1507G>A
|
rs534291888
|
0.00005
|
NM_139057.4(ADAMTS17):c.*2289A>G
|
rs945247732
|
0.00005
|
NM_139057.4(ADAMTS17):c.*802G>A
|
rs571008658
|
0.00005
|
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=)
|
rs758555346
|
0.00005
|
NM_139057.4(ADAMTS17):c.2950-6C>T
|
rs1447997408
|
0.00005
|
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu)
|
rs764391097
|
0.00005
|
NM_000138.5(FBN1):c.*2221A>G
|
rs886051226
|
0.00004
|
NM_000138.5(FBN1):c.*300T>C
|
rs1011876253
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
NM_000428.3(LTBP2):c.*929A>G
|
rs1175589944
|
0.00004
|
NM_000428.3(LTBP2):c.2197G>A (p.Ala733Thr)
|
rs925483356
|
0.00004
|
NM_000428.3(LTBP2):c.2283C>T (p.Ser761=)
|
rs537908823
|
0.00004
|
NM_000428.3(LTBP2):c.3278-15G>A
|
rs201661499
|
0.00004
|
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)
|
rs147213897
|
0.00004
|
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln)
|
rs371346534
|
0.00004
|
NM_000428.3(LTBP2):c.607C>T (p.Arg203Cys)
|
rs777450651
|
0.00004
|
NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu)
|
rs557904436
|
0.00004
|
NM_001104631.2(PDE4D):c.*2369G>A
|
rs796829320
|
0.00004
|
NM_001104631.2(PDE4D):c.*2999T>C
|
rs200919800
|
0.00004
|
NM_001104631.2(PDE4D):c.*4513C>T
|
rs886060703
|
0.00004
|
NM_001104631.2(PDE4D):c.*5000A>G
|
rs886060702
|
0.00004
|
NM_001104631.2(PDE4D):c.*649T>G
|
rs886060713
|
0.00004
|
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=)
|
rs375617990
|
0.00004
|
NM_002734.5(PRKAR1A):c.*1085G>A
|
rs994798970
|
0.00004
|
NM_002734.5(PRKAR1A):c.*2940G>A
|
rs2086029597
|
0.00004
|
NM_002734.5(PRKAR1A):c.549+20A>G
|
rs981055703
|
0.00004
|
NM_005359.6(SMAD4):c.*1386G>T
|
rs553408737
|
0.00004
|
NM_005359.6(SMAD4):c.*170A>G
|
rs1179236471
|
0.00004
|
NM_005359.6(SMAD4):c.*259T>C
|
rs1178398899
|
0.00004
|
NM_005359.6(SMAD4):c.*3223A>G
|
rs1202921300
|
0.00004
|
NM_005359.6(SMAD4):c.*837A>G
|
rs886053897
|
0.00004
|
NM_005359.6(SMAD4):c.-333C>A
|
rs886053888
|
0.00004
|
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)
|
rs756795016
|
0.00004
|
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys)
|
rs749022707
|
0.00004
|
NM_014112.5(TRPS1):c.3724A>C (p.Met1242Leu)
|
rs374209544
|
0.00004
|
NM_014694.4(ADAMTSL2):c.*566G>A
|
rs886063652
|
0.00004
|
NM_014694.4(ADAMTSL2):c.1151G>A (p.Arg384Gln)
|
rs1453028193
|
0.00004
|
NM_014694.4(ADAMTSL2):c.2089-10G>A
|
rs886063645
|
0.00004
|
NM_014694.4(ADAMTSL2):c.2532C>T (p.Pro844=)
|
rs997286816
|
0.00004
|
NM_014694.4(ADAMTSL2):c.258G>C (p.Gly86=)
|
rs376297294
|
0.00004
|
NM_014694.4(ADAMTSL2):c.2631C>T (p.Asp877=)
|
rs901152873
|
0.00004
|
NM_014694.4(ADAMTSL2):c.2689G>A (p.Val897Ile)
|
rs886063649
|
0.00004
|
NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu)
|
rs969732840
|
0.00004
|
NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr)
|
rs764516811
|
0.00004
|
NM_014714.4(IFT140):c.-267G>C
|
rs574385960
|
0.00004
|
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)
|
rs201871050
|
0.00004
|
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr)
|
rs769337607
|
0.00004
|
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu)
|
rs780657545
|
0.00004
|
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp)
|
rs757678246
|
0.00004
|
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala)
|
rs771450990
|
0.00004
|
NM_014714.4(IFT140):c.2044C>A (p.Gln682Lys)
|
rs371064856
|
0.00004
|
NM_014714.4(IFT140):c.2066C>T (p.Ala689Val)
|
rs147290396
|
0.00004
|
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)
|
rs141172132
|
0.00004
|
NM_014714.4(IFT140):c.2424G>A (p.Ala808=)
|
rs375979698
|
0.00004
|
NM_014714.4(IFT140):c.2492G>A (p.Arg831His)
|
rs769046641
|
0.00004
|
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)
|
rs771116194
|
0.00004
|
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val)
|
rs145609033
|
0.00004
|
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu)
|
rs2040655109
|
0.00004
|
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)
|
rs369493147
|
0.00004
|
NM_014714.4(IFT140):c.3193G>A (p.Glu1065Lys)
|
rs373564205
|
0.00004
|
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)
|
rs146537096
|
0.00004
|
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)
|
rs375975334
|
0.00004
|
NM_014714.4(IFT140):c.3271-5C>T
|
rs368227090
|
0.00004
|
NM_014714.4(IFT140):c.329G>A (p.Arg110His)
|
rs371077545
|
0.00004
|
NM_014714.4(IFT140):c.3408C>G (p.His1136Gln)
|
rs374602347
|
0.00004
|
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=)
|
rs368713443
|
0.00004
|
NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly)
|
rs774000109
|
0.00004
|
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln)
|
rs756683299
|
0.00004
|
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr)
|
rs539917190
|
0.00004
|
NM_014714.4(IFT140):c.4036C>T (p.Arg1346Cys)
|
rs556735183
|
0.00004
|
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His)
|
rs144050063
|
0.00004
|
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala)
|
rs756448762
|
0.00004
|
NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln)
|
rs369058620
|
0.00004
|
NM_014714.4(IFT140):c.4182+15C>T
|
rs374874160
|
0.00004
|
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)
|
rs750381445
|
0.00004
|
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)
|
rs753109181
|
0.00004
|
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser)
|
rs201849591
|
0.00004
|
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala)
|
rs983329531
|
0.00004
|
NM_014714.4(IFT140):c.628A>G (p.Met210Val)
|
rs749432087
|
0.00004
|
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys)
|
rs139141440
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_019023.5(PRMT7):c.1490G>A (p.Arg497Gln)
|
rs753756119
|
0.00004
|
NM_024600.6(TMEM204):c.539C>T (p.Thr180Met)
|
rs369025963
|
0.00004
|
NM_030957.4(ADAMTS10):c.*209C>T
|
rs1471058531
|
0.00004
|
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=)
|
rs150203950
|
0.00004
|
NM_030957.4(ADAMTS10):c.1971C>T (p.Ala657=)
|
rs557374103
|
0.00004
|
NM_030957.4(ADAMTS10):c.309C>T (p.Ser103=)
|
rs1285176283
|
0.00004
|
NM_139057.4(ADAMTS17):c.*1130C>T
|
rs377343119
|
0.00004
|
NM_139057.4(ADAMTS17):c.*856C>T
|
rs549608045
|
0.00004
|
NM_139057.4(ADAMTS17):c.-7G>A
|
rs371479108
|
0.00004
|
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=)
|
rs557358714
|
0.00004
|
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=)
|
rs753804023
|
0.00004
|
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=)
|
rs150431950
|
0.00004
|
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys)
|
rs202106289
|
0.00004
|
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn)
|
rs551851234
|
0.00004
|
NM_000138.5(FBN1):c.*1375A>C
|
rs1049315076
|
0.00003
|
NM_000138.5(FBN1):c.*1619T>A
|
rs374297351
|
0.00003
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
NM_000138.5(FBN1):c.*845C>T
|
rs1022238055
|
0.00003
|
NM_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00003
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000428.3(LTBP2):c.1485G>A (p.Arg495=)
|
rs756729691
|
0.00003
|
NM_000428.3(LTBP2):c.1972C>T (p.Arg658Trp)
|
rs180947562
|
0.00003
|
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg)
|
rs201430837
|
0.00003
|
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys)
|
rs137854862
|
0.00003
|
NM_000428.3(LTBP2):c.3606G>T (p.Leu1202=)
|
rs373253770
|
0.00003
|
NM_000428.3(LTBP2):c.4159C>T (p.Arg1387Cys)
|
rs747333533
|
0.00003
|
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg)
|
rs764828666
|
0.00003
|
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp)
|
rs150484024
|
0.00003
|
NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=)
|
rs137871407
|
0.00003
|
NM_000428.3(LTBP2):c.5046C>T (p.Pro1682=)
|
rs1194291909
|
0.00003
|
NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=)
|
rs764652187
|
0.00003
|
NM_000428.3(LTBP2):c.5215A>G (p.Ile1739Val)
|
rs1435761349
|
0.00003
|
NM_001104631.2(PDE4D):c.*1649C>T
|
rs530824932
|
0.00003
|
NM_001104631.2(PDE4D):c.*3418T>C
|
rs1466070150
|
0.00003
|
NM_001104631.2(PDE4D):c.*421A>G
|
rs886060715
|
0.00003
|
NM_001104631.2(PDE4D):c.1189-4C>G
|
rs748827625
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_002734.5(PRKAR1A):c.*1487C>T
|
rs886053314
|
0.00003
|
NM_002734.5(PRKAR1A):c.*299T>G
|
rs569225886
|
0.00003
|
NM_005359.6(SMAD4):c.*2630A>G
|
rs768569083
|
0.00003
|
NM_005359.6(SMAD4):c.*3506C>T
|
rs886053913
|
0.00003
|
NM_005359.6(SMAD4):c.*363C>T
|
rs939737709
|
0.00003
|
NM_005359.6(SMAD4):c.*5282T>G
|
rs1389511065
|
0.00003
|
NM_005359.6(SMAD4):c.*850G>A
|
rs886053898
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_014112.5(TRPS1):c.*2752_*2754del
|
rs886062612
|
0.00003
|
NM_014112.5(TRPS1):c.1526C>T (p.Thr509Ile)
|
rs774172927
|
0.00003
|
NM_014112.5(TRPS1):c.890G>A (p.Arg297His)
|
rs376460318
|
0.00003
|
NM_014694.4(ADAMTSL2):c.255C>T (p.Pro85=)
|
rs777495910
|
0.00003
|
NM_014694.4(ADAMTSL2):c.325G>A (p.Gly109Arg)
|
rs199663387
|
0.00003
|
NM_014694.4(ADAMTSL2):c.708G>A (p.Pro236=)
|
rs146958778
|
0.00003
|
NM_014694.4(ADAMTSL2):c.912G>A (p.Gly304=)
|
rs758446604
|
0.00003
|
NM_014694.4(ADAMTSL2):c.979G>A (p.Glu327Lys)
|
rs996554992
|
0.00003
|
NM_014714.4(IFT140):c.*23C>T
|
rs752974569
|
0.00003
|
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met)
|
rs780000949
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.1330A>G (p.Met444Val)
|
rs749322722
|
0.00003
|
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)
|
rs764537319
|
0.00003
|
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)
|
rs373111085
|
0.00003
|
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)
|
rs778960409
|
0.00003
|
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg)
|
rs769632242
|
0.00003
|
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln)
|
rs200440483
|
0.00003
|
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys)
|
rs755748472
|
0.00003
|
NM_014714.4(IFT140):c.2510G>A (p.Arg837His)
|
rs374429002
|
0.00003
|
NM_014714.4(IFT140):c.2584G>A (p.Ala862Thr)
|
rs751629348
|
0.00003
|
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp)
|
rs554196965
|
0.00003
|
NM_014714.4(IFT140):c.2692G>A (p.Val898Met)
|
rs369457143
|
0.00003
|
NM_014714.4(IFT140):c.2717G>A (p.Arg906His)
|
rs754338217
|
0.00003
|
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg)
|
rs201100248
|
0.00003
|
NM_014714.4(IFT140):c.2743G>A (p.Ala915Thr)
|
rs529397200
|
0.00003
|
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)
|
rs568921640
|
0.00003
|
NM_014714.4(IFT140):c.2781G>A (p.Ser927=)
|
rs773225207
|
0.00003
|
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp)
|
rs141818893
|
0.00003
|
NM_014714.4(IFT140):c.3302C>T (p.Ala1101Val)
|
rs773291603
|
0.00003
|
NM_014714.4(IFT140):c.3350T>C (p.Leu1117Pro)
|
rs749518919
|
0.00003
|
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)
|
rs952706482
|
0.00003
|
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)
|
rs149521576
|
0.00003
|
NM_014714.4(IFT140):c.3841C>G (p.Leu1281Val)
|
rs1205008767
|
0.00003
|
NM_014714.4(IFT140):c.4041-5G>A
|
rs754813435
|
0.00003
|
NM_014714.4(IFT140):c.4136A>G (p.Tyr1379Cys)
|
rs117433764
|
0.00003
|
NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala)
|
rs373499004
|
0.00003
|
NM_014714.4(IFT140):c.4162C>T (p.Arg1388Trp)
|
rs760253028
|
0.00003
|
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu)
|
rs1198844614
|
0.00003
|
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_014714.4(IFT140):c.601G>A (p.Glu201Lys)
|
rs367721062
|
0.00003
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
0.00003
|
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg)
|
rs574450870
|
0.00003
|
NM_019023.5(PRMT7):c.1078C>T (p.Arg360Cys)
|
rs775110866
|
0.00003
|
NM_019023.5(PRMT7):c.1489C>T (p.Arg497Trp)
|
rs1201730206
|
0.00003
|
NM_030957.4(ADAMTS10):c.*411C>T
|
rs886054707
|
0.00003
|
NM_030957.4(ADAMTS10):c.-143G>C
|
rs886054716
|
0.00003
|
NM_030957.4(ADAMTS10):c.1194C>T (p.Phe398=)
|
rs782096562
|
0.00003
|
NM_030957.4(ADAMTS10):c.1794G>C (p.Thr598=)
|
rs145420448
|
0.00003
|
NM_030957.4(ADAMTS10):c.2034+11C>T
|
rs116541830
|
0.00003
|
NM_030957.4(ADAMTS10):c.592+8G>A
|
rs201882173
|
0.00003
|
NM_139057.4(ADAMTS17):c.*1054T>C
|
rs886050960
|
0.00003
|
NM_139057.4(ADAMTS17):c.*1749G>A
|
rs757196506
|
0.00003
|
NM_139057.4(ADAMTS17):c.*2329T>C
|
rs886050953
|
0.00003
|
NM_139057.4(ADAMTS17):c.*639G>A
|
rs886050965
|
0.00003
|
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser)
|
rs755587669
|
0.00003
|
NM_139057.4(ADAMTS17):c.1323-12C>T
|
rs770627848
|
0.00003
|
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=)
|
rs767077707
|
0.00003
|
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)
|
rs886050980
|
0.00003
|
NM_139057.4(ADAMTS17):c.2592-10C>T
|
rs751012843
|
0.00003
|
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=)
|
rs900832969
|
0.00003
|
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=)
|
rs886050976
|
0.00003
|
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu)
|
rs771992023
|
0.00003
|
NM_000138.5(FBN1):c.*1249A>G
|
rs1456413075
|
0.00002
|
NM_000138.5(FBN1):c.*1398G>C
|
rs886051234
|
0.00002
|
NM_000138.5(FBN1):c.*253A>T
|
rs539383558
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000428.3(LTBP2):c.*1170A>G
|
rs886050749
|
0.00002
|
NM_000428.3(LTBP2):c.*1481C>T
|
rs527271189
|
0.00002
|
NM_000428.3(LTBP2):c.*609A>C
|
rs1323555762
|
0.00002
|
NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser)
|
rs373539611
|
0.00002
|
NM_000428.3(LTBP2):c.3511G>A (p.Gly1171Ser)
|
rs775487511
|
0.00002
|
NM_000428.3(LTBP2):c.5182G>A (p.Gly1728Ser)
|
rs759870336
|
0.00002
|
NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg)
|
rs886050755
|
0.00002
|
NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe)
|
rs886050754
|
0.00002
|
NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr)
|
rs772174775
|
0.00002
|
NM_001104631.2(PDE4D):c.-55C>T
|
rs886060716
|
0.00002
|
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=)
|
rs538879121
|
0.00002
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995
|
0.00002
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys)
|
rs137853303
|
0.00002
|
NM_005359.6(SMAD4):c.*1457C>T
|
rs886053901
|
0.00002
|
NM_005359.6(SMAD4):c.*245T>C
|
rs753295366
|
0.00002
|
NM_005359.6(SMAD4):c.*2675A>C
|
rs1352805500
|
0.00002
|
NM_005359.6(SMAD4):c.*2682T>C
|
rs557955183
|
0.00002
|
NM_005359.6(SMAD4):c.*2693A>G
|
rs778780100
|
0.00002
|
NM_005359.6(SMAD4):c.*580A>G
|
rs1421486746
|
0.00002
|
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)
|
rs139569694
|
0.00002
|
NM_014112.5(TRPS1):c.601C>G (p.Gln201Glu)
|
rs766826774
|
0.00002
|
NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys)
|
rs983037163
|
0.00002
|
NM_014694.4(ADAMTSL2):c.1276+5C>G
|
rs886063640
|
0.00002
|
NM_014694.4(ADAMTSL2):c.1719C>T (p.His573=)
|
rs982225900
|
0.00002
|
NM_014694.4(ADAMTSL2):c.2551G>A (p.Glu851Lys)
|
rs953137105
|
0.00002
|
NM_014694.4(ADAMTSL2):c.2799C>T (p.Cys933=)
|
rs936095569
|
0.00002
|
NM_014714.3(IFT140):c.-328C>T
|
rs528212874
|
0.00002
|
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg)
|
rs1555491988
|
0.00002
|
NM_014714.4(IFT140):c.1155+15G>A
|
rs764275810
|
0.00002
|
NM_014714.4(IFT140):c.1242C>G (p.His414Gln)
|
rs142143011
|
0.00002
|
NM_014714.4(IFT140):c.127G>A (p.Val43Met)
|
rs150649451
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg)
|
rs146049665
|
0.00002
|
NM_014714.4(IFT140):c.1944C>T (p.Pro648=)
|
rs763449097
|
0.00002
|
NM_014714.4(IFT140):c.1999C>G (p.Gln667Glu)
|
rs753128503
|
0.00002
|
NM_014714.4(IFT140):c.2072A>T (p.Asp691Val)
|
rs763569081
|
0.00002
|
NM_014714.4(IFT140):c.2200-20A>G
|
rs760501465
|
0.00002
|
NM_014714.4(IFT140):c.2224G>A (p.Glu742Lys)
|
rs1420709766
|
0.00002
|
NM_014714.4(IFT140):c.2312C>T (p.Ala771Val)
|
rs764243187
|
0.00002
|
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)
|
rs758544371
|
0.00002
|
NM_014714.4(IFT140):c.2464G>A (p.Val822Met)
|
rs1157116921
|
0.00002
|
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr)
|
rs1438111084
|
0.00002
|
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile)
|
rs1396499118
|
0.00002
|
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys)
|
rs778004145
|
0.00002
|
NM_014714.4(IFT140):c.2702G>A (p.Arg901His)
|
rs374245105
|
0.00002
|
NM_014714.4(IFT140):c.2791C>T (p.Arg931Cys)
|
rs778436557
|
0.00002
|
NM_014714.4(IFT140):c.3061G>A (p.Glu1021Lys)
|
rs576458824
|
0.00002
|
NM_014714.4(IFT140):c.3092A>C (p.His1031Pro)
|
rs973440348
|
0.00002
|
NM_014714.4(IFT140):c.3137G>A (p.Cys1046Tyr)
|
rs752148006
|
0.00002
|
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)
|
rs763140298
|
0.00002
|
NM_014714.4(IFT140):c.3347A>G (p.Asp1116Gly)
|
rs768889794
|
0.00002
|
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)
|
rs765923171
|
0.00002
|
NM_014714.4(IFT140):c.3502G>A (p.Glu1168Lys)
|
rs780721001
|
0.00002
|
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)
|
rs764946729
|
0.00002
|
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr)
|
rs753550166
|
0.00002
|
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu)
|
rs542803163
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala)
|
rs1464318641
|
0.00002
|
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser)
|
rs368380437
|
0.00002
|
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)
|
rs369161842
|
0.00002
|
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala)
|
rs138311751
|
0.00002
|
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys)
|
rs756142477
|
0.00002
|
NM_014714.4(IFT140):c.3995T>C (p.Leu1332Pro)
|
rs902428763
|
0.00002
|
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)
|
rs557586568
|
0.00002
|
NM_014714.4(IFT140):c.4181C>T (p.Thr1394Met)
|
rs771765849
|
0.00002
|
NM_014714.4(IFT140):c.4207C>T (p.Arg1403Trp)
|
rs772400580
|
0.00002
|
NM_014714.4(IFT140):c.4232T>G (p.Met1411Arg)
|
rs752233693
|
0.00002
|
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys)
|
rs559314300
|
0.00002
|
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu)
|
rs766380874
|
0.00002
|
NM_014714.4(IFT140):c.70C>T (p.His24Tyr)
|
rs939722027
|
0.00002
|
NM_014714.4(IFT140):c.773C>T (p.Thr258Met)
|
rs140020318
|
0.00002
|
NM_014714.4(IFT140):c.902+3G>A
|
rs776981733
|
0.00002
|
NM_030957.4(ADAMTS10):c.1085-5C>T
|
rs781831794
|
0.00002
|
NM_030957.4(ADAMTS10):c.1285A>G (p.Asn429Asp)
|
rs375444463
|
0.00002
|
NM_030957.4(ADAMTS10):c.1407G>A (p.Pro469=)
|
rs149014496
|
0.00002
|
NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr)
|
rs782053556
|
0.00002
|
NM_030957.4(ADAMTS10):c.518A>G (p.Glu173Gly)
|
rs187757286
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_139057.4(ADAMTS17):c.*200G>A
|
rs548191022
|
0.00002
|
NM_139057.4(ADAMTS17):c.*2115C>A
|
rs769848171
|
0.00002
|
NM_139057.4(ADAMTS17):c.*465G>A
|
rs886050967
|
0.00002
|
NM_139057.4(ADAMTS17):c.2017-10G>C
|
rs765531556
|
0.00002
|
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg)
|
rs761591792
|
0.00002
|
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=)
|
rs780909666
|
0.00002
|
NM_000138.4(FBN1):c.-319G>T
|
rs886051256
|
0.00001
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.*252G>A
|
rs1407193739
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)
|
rs1335136151
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
NM_000138.5(FBN1):c.297G>A (p.Met99Ile)
|
rs1314594090
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
|
rs886038781
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)
|
rs1258352189
|
0.00001
|
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)
|
rs778219976
|
0.00001
|
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)
|
rs778145681
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)
|
rs560230585
|
0.00001
|
NM_000138.5(FBN1):c.4336+11G>A
|
rs886051249
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn)
|
rs794728227
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)
|
rs1052480459
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg)
|
rs1220647446
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)
|
rs765839151
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.862+3A>G
|
rs1555401453
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000428.3(LTBP2):c.*1776C>T
|
rs1378655630
|
0.00001
|
NM_000428.3(LTBP2):c.*206C>T
|
rs192723743
|
0.00001
|
NM_000428.3(LTBP2):c.*2112G>A
|
rs949885665
|
0.00001
|
NM_000428.3(LTBP2):c.-21A>G
|
rs765474184
|
0.00001
|
NM_000428.3(LTBP2):c.-46G>C
|
rs886050761
|
0.00001
|
NM_000428.3(LTBP2):c.1097G>A (p.Arg366His)
|
rs759632617
|
0.00001
|
NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro)
|
rs200471693
|
0.00001
|
NM_000428.3(LTBP2):c.1613G>A (p.Arg538Gln)
|
rs757892170
|
0.00001
|
NM_000428.3(LTBP2):c.2082G>A (p.Gln694=)
|
rs757918162
|
0.00001
|
NM_000428.3(LTBP2):c.2449A>G (p.Met817Val)
|
rs2087256544
|
0.00001
|
NM_000428.3(LTBP2):c.246G>A (p.Leu82=)
|
rs748744542
|
0.00001
|
NM_000428.3(LTBP2):c.249G>A (p.Gln83=)
|
rs779279335
|
0.00001
|
NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser)
|
rs562124154
|
0.00001
|
NM_000428.3(LTBP2):c.2788+14G>A
|
rs753628301
|
0.00001
|
NM_000428.3(LTBP2):c.2788+15C>G
|
rs376663839
|
0.00001
|
NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala)
|
rs759008893
|
0.00001
|
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu)
|
rs745791013
|
0.00001
|
NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=)
|
rs757843416
|
0.00001
|
NM_000428.3(LTBP2):c.3589G>A (p.Gly1197Arg)
|
rs760459796
|
0.00001
|
NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=)
|
rs767484358
|
0.00001
|
NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His)
|
rs201598003
|
0.00001
|
NM_000428.3(LTBP2):c.4370-14G>A
|
rs750045564
|
0.00001
|
NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg)
|
rs769745393
|
0.00001
|
NM_000428.3(LTBP2):c.482G>A (p.Gly161Glu)
|
rs1469851587
|
0.00001
|
NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg)
|
rs549156119
|
0.00001
|
NM_000428.3(LTBP2):c.713G>A (p.Arg238His)
|
rs943163124
|
0.00001
|
NM_000428.3(LTBP2):c.970A>C (p.Arg324=)
|
rs372209109
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_001104631.2(PDE4D):c.*131T>C
|
rs953481477
|
0.00001
|
NM_001104631.2(PDE4D):c.*1379A>G
|
rs886060708
|
0.00001
|
NM_001104631.2(PDE4D):c.*4981C>G
|
rs1024653706
|
0.00001
|
NM_001104631.2(PDE4D):c.*780G>C
|
rs886060712
|
0.00001
|
NM_001104631.2(PDE4D):c.1188+15A>G
|
rs1747991195
|
0.00001
|
NM_001104631.2(PDE4D):c.1476T>G (p.Ile492Met)
|
rs1379060456
|
0.00001
|
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=)
|
rs371404288
|
0.00001
|
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe)
|
rs761294824
|
0.00001
|
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp)
|
rs759832724
|
0.00001
|
NM_001104631.2(PDE4D):c.225G>A (p.Pro75=)
|
rs957259316
|
0.00001
|
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly)
|
rs1290453118
|
0.00001
|
NM_001104631.2(PDE4D):c.2399G>T (p.Cys800Phe)
|
rs779815130
|
0.00001
|
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr)
|
rs780848487
|
0.00001
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
NM_001110556.2(FLNA):c.4474+3G>T
|
rs1286863443
|
0.00001
|
NM_001110556.2(FLNA):c.546G>C (p.Gln182His)
|
rs1557179648
|
0.00001
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
NM_001130144.3(LTBP3):c.3392C>T (p.Ala1131Val)
|
rs1338933893
|
0.00001
|
NM_002734.5(PRKAR1A):c.*526G>A
|
rs886053308
|
0.00001
|
NM_002734.5(PRKAR1A):c.*535T>G
|
rs1329748321
|
0.00001
|
NM_002734.5(PRKAR1A):c.-11C>T
|
rs1021510770
|
0.00001
|
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)
|
rs760033566
|
0.00001
|
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys)
|
rs1467886544
|
0.00001
|
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=)
|
rs746113372
|
0.00001
|
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys)
|
rs1177674637
|
0.00001
|
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg)
|
rs763158372
|
0.00001
|
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu)
|
rs756985434
|
0.00001
|
NM_005359.6(SMAD4):c.*1277G>T
|
rs886053900
|
0.00001
|
NM_005359.6(SMAD4):c.*1315G>A
|
rs1006483392
|
0.00001
|
NM_005359.6(SMAD4):c.*1499T>G
|
rs973805114
|
0.00001
|
NM_005359.6(SMAD4):c.*1608T>C
|
rs1269516250
|
0.00001
|
NM_005359.6(SMAD4):c.*1786A>G
|
rs1036389216
|
0.00001
|
NM_005359.6(SMAD4):c.*2354G>A
|
rs886053905
|
0.00001
|
NM_005359.6(SMAD4):c.*2897G>A
|
rs772039050
|
0.00001
|
NM_005359.6(SMAD4):c.*3186T>C
|
rs886053911
|
0.00001
|
NM_005359.6(SMAD4):c.*332A>G
|
rs975068806
|
0.00001
|
NM_005359.6(SMAD4):c.*3843G>A
|
rs886053915
|
0.00001
|
NM_005359.6(SMAD4):c.*4707G>A
|
rs1265840002
|
0.00001
|
NM_005359.6(SMAD4):c.*579G>T
|
rs1013268028
|
0.00001
|
NM_005359.6(SMAD4):c.*5985A>G
|
rs886053934
|
0.00001
|
NM_005359.6(SMAD4):c.*605A>C
|
rs1910543316
|
0.00001
|
NM_005359.6(SMAD4):c.*6408C>T
|
rs557992238
|
0.00001
|
NM_005359.6(SMAD4):c.*720G>A
|
rs976054814
|
0.00001
|
NM_005359.6(SMAD4):c.-127G>A
|
rs1348701370
|
0.00001
|
NM_005359.6(SMAD4):c.-128+12A>G
|
rs886053891
|
0.00001
|
NM_005359.6(SMAD4):c.-504A>G
|
rs900453280
|
0.00001
|
NM_005359.6(SMAD4):c.-531G>C
|
rs988578345
|
0.00001
|
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val)
|
rs1555686499
|
0.00001
|
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)
|
rs147621330
|
0.00001
|
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)
|
rs1064794204
|
0.00001
|
NM_005359.6(SMAD4):c.249+10A>C
|
rs752243771
|
0.00001
|
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)
|
rs542392980
|
0.00001
|
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)
|
rs759288477
|
0.00001
|
NM_005359.6(SMAD4):c.667+3G>A
|
rs757971589
|
0.00001
|
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)
|
rs587780793
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_005359.6(SMAD4):c.70A>G (p.Met24Val)
|
rs876659391
|
0.00001
|
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)
|
rs876659967
|
0.00001
|
NM_005359.6(SMAD4):c.789C>T (p.Asn263=)
|
rs763510526
|
0.00001
|
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)
|
rs1229812463
|
0.00001
|
NM_005359.6(SMAD4):c.876G>A (p.Pro292=)
|
rs753358186
|
0.00001
|
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)
|
rs730881953
|
0.00001
|
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr)
|
rs774019004
|
0.00001
|
NM_014112.5(TRPS1):c.2647T>A (p.Tyr883Asn)
|
rs1039993281
|
0.00001
|
NM_014112.5(TRPS1):c.2823G>A (p.Ser941=)
|
rs774932870
|
0.00001
|
NM_014112.5(TRPS1):c.3846C>A (p.Asn1282Lys)
|
rs1343541017
|
0.00001
|
NM_014112.5(TRPS1):c.3855A>C (p.Gln1285His)
|
rs1335170890
|
0.00001
|
NM_014112.5(TRPS1):c.457G>A (p.Ala153Thr)
|
rs570746805
|
0.00001
|
NM_014112.5(TRPS1):c.822C>G (p.Asp274Glu)
|
rs374893780
|
0.00001
|
NM_014112.5(TRPS1):c.988A>G (p.Ile330Val)
|
rs748358474
|
0.00001
|
NM_014694.4(ADAMTSL2):c.*280C>A
|
rs886063650
|
0.00001
|
NM_014694.4(ADAMTSL2):c.*331G>A
|
rs1404663146
|
0.00001
|
NM_014694.4(ADAMTSL2):c.*577G>A
|
rs886063653
|
0.00001
|
NM_014694.4(ADAMTSL2):c.*635G>T
|
rs886063656
|
0.00001
|
NM_014694.4(ADAMTSL2):c.-147C>G
|
rs199857142
|
0.00001
|
NM_014694.4(ADAMTSL2):c.1242C>A (p.Ala414=)
|
rs199582731
|
0.00001
|
NM_014694.4(ADAMTSL2):c.1764C>T (p.Tyr588=)
|
rs986247139
|
0.00001
|
NM_014694.4(ADAMTSL2):c.286C>T (p.Arg96Trp)
|
rs377040554
|
0.00001
|
NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp)
|
rs776178041
|
0.00001
|
NM_014694.4(ADAMTSL2):c.541G>A (p.Val181Met)
|
rs780731869
|
0.00001
|
NM_014694.4(ADAMTSL2):c.565G>A (p.Gly189Ser)
|
rs751365777
|
0.00001
|
NM_014694.4(ADAMTSL2):c.751G>A (p.Ala251Thr)
|
rs774653225
|
0.00001
|
NM_014694.4(ADAMTSL2):c.763+7A>G
|
rs776668079
|
0.00001
|
NM_014694.4(ADAMTSL2):c.81C>T (p.Thr27=)
|
rs776273406
|
0.00001
|
NM_014694.4(ADAMTSL2):c.954C>T (p.Asn318=)
|
rs886063638
|
0.00001
|
NM_014714.4(IFT140):c.*207C>T
|
rs1192536789
|
0.00001
|
NM_014714.4(IFT140):c.-221-6T>A
|
rs886051772
|
0.00001
|
NM_014714.4(IFT140):c.-6T>A
|
rs886051771
|
0.00001
|
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys)
|
rs1279456870
|
0.00001
|
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu)
|
rs776044753
|
0.00001
|
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile)
|
rs777159234
|
0.00001
|
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg)
|
rs1470456078
|
0.00001
|
NM_014714.4(IFT140):c.1156-6A>G
|
rs769650753
|
0.00001
|
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys)
|
rs755177677
|
0.00001
|
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)
|
rs754373519
|
0.00001
|
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)
|
rs770890983
|
0.00001
|
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile)
|
rs2034748123
|
0.00001
|
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met)
|
rs762293142
|
0.00001
|
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys)
|
rs758986711
|
0.00001
|
NM_014714.4(IFT140):c.1322G>A (p.Arg441His)
|
rs776567773
|
0.00001
|
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly)
|
rs1030260747
|
0.00001
|
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly)
|
rs376263938
|
0.00001
|
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys)
|
rs756882000
|
0.00001
|
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val)
|
rs765322119
|
0.00001
|
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp)
|
rs771838598
|
0.00001
|
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu)
|
rs1322686700
|
0.00001
|
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
NM_014714.4(IFT140):c.1469A>G (p.His490Arg)
|
rs537123341
|
0.00001
|
NM_014714.4(IFT140):c.147+6T>C
|
rs1387119490
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1553C>T (p.Ser518Leu)
|
rs761365882
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
0.00001
|
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr)
|
rs765500124
|
0.00001
|
NM_014714.4(IFT140):c.157G>A (p.Val53Met)
|
rs776811329
|
0.00001
|
NM_014714.4(IFT140):c.1585A>G (p.Ile529Val)
|
rs145895414
|
0.00001
|
NM_014714.4(IFT140):c.1607T>C (p.Val536Ala)
|
rs1206065799
|
0.00001
|
NM_014714.4(IFT140):c.1688C>T (p.Ala563Val)
|
rs968524691
|
0.00001
|
NM_014714.4(IFT140):c.1708G>C (p.Gly570Arg)
|
rs749278176
|
0.00001
|
NM_014714.4(IFT140):c.1741G>A (p.Gly581Arg)
|
rs532971915
|
0.00001
|
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr)
|
rs775630184
|
0.00001
|
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn)
|
rs138674110
|
0.00001
|
NM_014714.4(IFT140):c.182C>T (p.Pro61Leu)
|
rs757082667
|
0.00001
|
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp)
|
rs2033705618
|
0.00001
|
NM_014714.4(IFT140):c.1872G>A (p.Thr624=)
|
rs775156902
|
0.00001
|
NM_014714.4(IFT140):c.1901+5G>A
|
rs999790368
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
0.00001
|
NM_014714.4(IFT140):c.2009C>T (p.Pro670Leu)
|
rs149845330
|
0.00001
|
NM_014714.4(IFT140):c.2012G>A (p.Arg671His)
|
rs1372026395
|
0.00001
|
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys)
|
rs778368172
|
0.00001
|
NM_014714.4(IFT140):c.2054G>A (p.Arg685His)
|
rs370263158
|
0.00001
|
NM_014714.4(IFT140):c.2078T>C (p.Leu693Ser)
|
rs370031319
|
0.00001
|
NM_014714.4(IFT140):c.2103A>G (p.Glu701=)
|
rs1567373288
|
0.00001
|
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp)
|
rs201990219
|
0.00001
|
NM_014714.4(IFT140):c.2209G>A (p.Ala737Thr)
|
rs1161696291
|
0.00001
|
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr)
|
rs760427350
|
0.00001
|
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala)
|
rs754474621
|
0.00001
|
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln)
|
rs780086795
|
0.00001
|
NM_014714.4(IFT140):c.2303G>A (p.Cys768Tyr)
|
rs145283562
|
0.00001
|
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln)
|
rs140458893
|
0.00001
|
NM_014714.4(IFT140):c.2323G>A (p.Ala775Thr)
|
rs771255082
|
0.00001
|
NM_014714.4(IFT140):c.2438A>C (p.Lys813Thr)
|
rs1350594828
|
0.00001
|
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp)
|
rs1199982756
|
0.00001
|
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln)
|
rs536061072
|
0.00001
|
NM_014714.4(IFT140):c.2455G>A (p.Val819Met)
|
rs766515079
|
0.00001
|
NM_014714.4(IFT140):c.2485C>T (p.His829Tyr)
|
rs921816941
|
0.00001
|
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys)
|
rs754073086
|
0.00001
|
NM_014714.4(IFT140):c.2536G>A (p.Glu846Lys)
|
rs896477215
|
0.00001
|
NM_014714.4(IFT140):c.2545G>A (p.Val849Met)
|
rs771662799
|
0.00001
|
NM_014714.4(IFT140):c.257C>T (p.Thr86Met)
|
rs1159315989
|
0.00001
|
NM_014714.4(IFT140):c.2686G>A (p.Asp896Asn)
|
rs775236964
|
0.00001
|
NM_014714.4(IFT140):c.2689C>T (p.Arg897Cys)
|
rs769761601
|
0.00001
|
NM_014714.4(IFT140):c.2690G>A (p.Arg897His)
|
rs745863942
|
0.00001
|
NM_014714.4(IFT140):c.2714A>G (p.His905Arg)
|
rs1255418645
|
0.00001
|
NM_014714.4(IFT140):c.2718C>G (p.Arg906=)
|
rs780540683
|
0.00001
|
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)
|
rs566450108
|
0.00001
|
NM_014714.4(IFT140):c.2792G>A (p.Arg931His)
|
rs200088700
|
0.00001
|
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys)
|
rs768102481
|
0.00001
|
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro)
|
rs145549969
|
0.00001
|
NM_014714.4(IFT140):c.2885C>T (p.Ala962Val)
|
rs1371411242
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
0.00001
|
NM_014714.4(IFT140):c.2912T>C (p.Met971Thr)
|
rs761061336
|
0.00001
|
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)
|
rs745576178
|
0.00001
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
NM_014714.4(IFT140):c.2984G>T (p.Gly995Val)
|
rs772919008
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys)
|
rs375292299
|
0.00001
|
NM_014714.4(IFT140):c.3076G>A (p.Val1026Ile)
|
rs779289178
|
0.00001
|
NM_014714.4(IFT140):c.3077T>C (p.Val1026Ala)
|
rs755333071
|
0.00001
|
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val)
|
rs757852837
|
0.00001
|
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His)
|
rs577498082
|
0.00001
|
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys)
|
rs777230794
|
0.00001
|
NM_014714.4(IFT140):c.3223G>A (p.Glu1075Lys)
|
rs936261766
|
0.00001
|
NM_014714.4(IFT140):c.3226G>A (p.Glu1076Lys)
|
rs773620301
|
0.00001
|
NM_014714.4(IFT140):c.3251C>A (p.Ala1084Glu)
|
rs757199524
|
0.00001
|
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)
|
rs760652531
|
0.00001
|
NM_014714.4(IFT140):c.3348C>A (p.Asp1116Glu)
|
rs1438729385
|
0.00001
|
NM_014714.4(IFT140):c.3359C>T (p.Thr1120Met)
|
rs756215215
|
0.00001
|
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=)
|
rs761692949
|
0.00001
|
NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys)
|
rs774170824
|
0.00001
|
NM_014714.4(IFT140):c.3418G>A (p.Glu1140Lys)
|
rs564935788
|
0.00001
|
NM_014714.4(IFT140):c.3453+4C>T
|
rs367744951
|
0.00001
|
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)
|
rs772423904
|
0.00001
|
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)
|
rs377319314
|
0.00001
|
NM_014714.4(IFT140):c.3512C>T (p.Ala1171Val)
|
rs1158940284
|
0.00001
|
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)
|
rs752664070
|
0.00001
|
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln)
|
rs780533679
|
0.00001
|
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln)
|
rs149837281
|
0.00001
|
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)
|
rs754978656
|
0.00001
|
NM_014714.4(IFT140):c.3601C>T (p.Arg1201Cys)
|
rs368685855
|
0.00001
|
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn)
|
rs771772194
|
0.00001
|
NM_014714.4(IFT140):c.3685G>A (p.Gly1229Arg)
|
rs1203959141
|
0.00001
|
NM_014714.4(IFT140):c.36G>A (p.Pro12=)
|
rs574028286
|
0.00001
|
NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe)
|
rs1325819285
|
0.00001
|
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)
|
rs775044452
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg)
|
rs755596826
|
0.00001
|
NM_014714.4(IFT140):c.3928G>A (p.Ala1310Thr)
|
rs1055889482
|
0.00001
|
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu)
|
rs776809726
|
0.00001
|
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)
|
rs376151586
|
0.00001
|
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)
|
rs776522454
|
0.00001
|
NM_014714.4(IFT140):c.4040+4T>A
|
rs1402787371
|
0.00001
|
NM_014714.4(IFT140):c.4073A>G (p.Lys1358Arg)
|
rs763363588
|
0.00001
|
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg)
|
rs907401737
|
0.00001
|
NM_014714.4(IFT140):c.4104C>A (p.Asp1368Glu)
|
rs746684542
|
0.00001
|
NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly)
|
rs1386350816
|
0.00001
|
NM_014714.4(IFT140):c.4182+4A>C
|
rs1439771269
|
0.00001
|
NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp)
|
rs1465721813
|
0.00001
|
NM_014714.4(IFT140):c.422C>T (p.Thr141Met)
|
rs527332087
|
0.00001
|
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)
|
rs773095902
|
0.00001
|
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)
|
rs756711276
|
0.00001
|
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)
|
rs200161877
|
0.00001
|
NM_014714.4(IFT140):c.4300A>G (p.Thr1434Ala)
|
rs761959670
|
0.00001
|
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)
|
rs777181948
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014714.4(IFT140):c.488G>T (p.Gly163Val)
|
rs1368823319
|
0.00001
|
NM_014714.4(IFT140):c.489C>T (p.Gly163=)
|
rs776597097
|
0.00001
|
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn)
|
rs774439512
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.740T>C (p.Val247Ala)
|
rs1231656459
|
0.00001
|
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser)
|
rs1277927981
|
0.00001
|
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe)
|
rs1442341163
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_014714.4(IFT140):c.877A>T (p.Met293Leu)
|
rs761441382
|
0.00001
|
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)
|
rs1330112951
|
0.00001
|
NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg)
|
rs200195216
|
0.00001
|
NM_019023.5(PRMT7):c.455G>A (p.Gly152Glu)
|
rs369694211
|
0.00001
|
NM_030957.4(ADAMTS10):c.*330A>T
|
rs1302375936
|
0.00001
|
NM_030957.4(ADAMTS10):c.*563C>A
|
rs1426786259
|
0.00001
|
NM_030957.4(ADAMTS10):c.-233G>T
|
rs1379274351
|
0.00001
|
NM_030957.4(ADAMTS10):c.1212C>T (p.Gly404=)
|
rs1555740123
|
0.00001
|
NM_030957.4(ADAMTS10):c.1530C>G (p.Thr510=)
|
rs886054715
|
0.00001
|
NM_030957.4(ADAMTS10):c.1880A>C (p.Lys627Thr)
|
rs782712334
|
0.00001
|
NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr)
|
rs886054714
|
0.00001
|
NM_030957.4(ADAMTS10):c.2239+10T>C
|
rs782597342
|
0.00001
|
NM_030957.4(ADAMTS10):c.2433C>T (p.Leu811=)
|
rs886054712
|
0.00001
|
NM_030957.4(ADAMTS10):c.487G>A (p.Gly163Ser)
|
rs373876511
|
0.00001
|
NM_030957.4(ADAMTS10):c.517G>A (p.Glu173Lys)
|
rs782396164
|
0.00001
|
NM_030957.4(ADAMTS10):c.644C>T (p.Pro215Leu)
|
rs782497547
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_139057.4(ADAMTS17):c.*111C>T
|
rs886050971
|
0.00001
|
NM_139057.4(ADAMTS17):c.*1348dup
|
rs545574106
|
0.00001
|
NM_139057.4(ADAMTS17):c.*261G>A
|
rs886050970
|
0.00001
|
NM_139057.4(ADAMTS17):c.*805G>A
|
rs889232446
|
0.00001
|
NM_139057.4(ADAMTS17):c.*850C>T
|
rs886050964
|
0.00001
|
NM_139057.4(ADAMTS17):c.-4T>C
|
rs886050984
|
0.00001
|
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly)
|
rs1442746480
|
0.00001
|
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=)
|
rs558036408
|
0.00001
|
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=)
|
rs1450190162
|
0.00001
|
NM_139057.4(ADAMTS17):c.1075+10G>C
|
rs943576519
|
0.00001
|
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=)
|
rs371229459
|
0.00001
|
NM_139057.4(ADAMTS17):c.1323-11G>A
|
rs74442617
|
0.00001
|
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His)
|
rs765427198
|
0.00001
|
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu)
|
rs200960936
|
0.00001
|
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser)
|
rs756454329
|
0.00001
|
NM_139057.4(ADAMTS17):c.1888+9A>C
|
rs201219446
|
0.00001
|
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=)
|
rs749551110
|
0.00001
|
NM_139057.4(ADAMTS17):c.2017-3T>C
|
rs760792591
|
0.00001
|
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=)
|
rs200809221
|
0.00001
|
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=)
|
rs763171758
|
0.00001
|
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=)
|
rs777524361
|
0.00001
|
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=)
|
rs746354760
|
0.00001
|
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys)
|
rs775321973
|
0.00001
|
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu)
|
rs1375656495
|
0.00001
|
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr)
|
rs144662002
|
0.00001
|
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=)
|
rs1360871464
|
0.00001
|
NM_139057.4(ADAMTS17):c.616+7C>T
|
rs886050978
|
0.00001
|
NM_139057.4(ADAMTS17):c.790-6T>C
|
rs886050977
|
0.00001
|
NC_000016.10:g.(?_1485939)_(1511150_?)del
|
|
|
NC_000016.9:g.(?_1496632)_(1561171_?)dup
|
|
|
NC_000016.9:g.(?_1607916)_(1618355_?)dup
|
|
|
NC_000016.9:g.(?_1639586)_(1642609_?)del
|
|
|
NC_000016.9:g.(?_256302)_(4852572_?)dup
|
|
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.4(FBN1):c.-400A>T
|
rs1890299170
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*107A>G
|
rs562749473
|
|
NM_000138.5(FBN1):c.*1122C>T
|
rs2042846511
|
|
NM_000138.5(FBN1):c.*1201T>G
|
rs574181586
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
NM_000138.5(FBN1):c.*2114T>A
|
rs886051227
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
NM_000138.5(FBN1):c.*235T>C
|
rs1597506366
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
NM_000138.5(FBN1):c.*2638T>C
|
rs886051219
|
|
NM_000138.5(FBN1):c.*268G>C
|
rs886051242
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
NM_000138.5(FBN1):c.*311G>A
|
rs894774727
|
|
NM_000138.5(FBN1):c.*325T>C
|
rs537909430
|
|
NM_000138.5(FBN1):c.*399C>A
|
rs2042852375
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
NM_000138.5(FBN1):c.*724A>C
|
rs886051239
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
NM_000138.5(FBN1):c.*948G>T
|
rs749224599
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.-108G>A
|
rs1029606067
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
NM_000138.5(FBN1):c.-70C>A
|
rs886051253
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)
|
rs886044236
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.164+3A>G
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
|
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)
|
rs1566911886
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)
|
rs1031572615
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)
|
rs2141293110
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4354C>T (p.Leu1452Phe)
|
|
|
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)
|
rs397515808
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)
|
rs1057518501
|
|
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)
|
rs776199613
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
NM_000138.5(FBN1):c.5105A>G (p.Asp1702Gly)
|
rs1294870005
|
|
NM_000138.5(FBN1):c.5177G>T (p.Gly1726Val)
|
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr)
|
rs2043210566
|
|
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val)
|
rs2043210544
|
|
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)
|
rs2043210015
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)
|
rs370940450
|
|
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.6037+9G>A
|
|
|
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)
|
rs2043116342
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)
|
rs1413266501
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp)
|
rs2043050683
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)
|
rs776823384
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)
|
rs1375370990
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)
|
rs1290478839
|
|
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)
|
rs794728261
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser)
|
rs982468949
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys)
|
rs1566919661
|
|
NM_000428.3(LTBP2):c.*1029G>A
|
rs2086890935
|
|
NM_000428.3(LTBP2):c.*10dup
|
rs546442756
|
|
NM_000428.3(LTBP2):c.*1302G>A
|
rs191692241
|
|
NM_000428.3(LTBP2):c.*1302G>C
|
rs191692241
|
|
NM_000428.3(LTBP2):c.*1393T>C
|
rs2086887490
|
|
NM_000428.3(LTBP2):c.*147A>T
|
rs886050753
|
|
NM_000428.3(LTBP2):c.*1518_*1520dup
|
rs565536636
|
|
NM_000428.3(LTBP2):c.*1777A>G
|
rs1419112516
|
|
NM_000428.3(LTBP2):c.*2236C>T
|
rs753803515
|
|
NM_000428.3(LTBP2):c.*2266G>A
|
rs886050747
|
|
NM_000428.3(LTBP2):c.*233A>G
|
rs886050752
|
|
NM_000428.3(LTBP2):c.*2353T>C
|
rs552983028
|
|
NM_000428.3(LTBP2):c.*2419C>T
|
rs1595233261
|
|
NM_000428.3(LTBP2):c.*316C>G
|
rs957387729
|
|
NM_000428.3(LTBP2):c.*373A>G
|
rs886050751
|
|
NM_000428.3(LTBP2):c.*384G>C
|
rs2086896920
|
|
NM_000428.3(LTBP2):c.*397C>A
|
rs2086896748
|
|
NM_000428.3(LTBP2):c.*638T>G
|
rs886050750
|
|
NM_000428.3(LTBP2):c.*742C>T
|
rs913148674
|
|
NM_000428.3(LTBP2):c.-222C>G
|
rs886050764
|
|
NM_000428.3(LTBP2):c.-33C>A
|
rs886050760
|
|
NM_000428.3(LTBP2):c.-97C>T
|
rs886050763
|
|
NM_000428.3(LTBP2):c.1199G>C (p.Cys400Ser)
|
rs987914104
|
|
NM_000428.3(LTBP2):c.1382C>G (p.Pro461Arg)
|
rs765689019
|
|
NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr)
|
rs553562104
|
|
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr)
|
rs770862437
|
|
NM_000428.3(LTBP2):c.1656C>T (p.Gly552=)
|
rs764120281
|
|
NM_000428.3(LTBP2):c.1745C>T (p.Ala582Val)
|
rs886050759
|
|
NM_000428.3(LTBP2):c.1760C>T (p.Thr587Ile)
|
rs886050758
|
|
NM_000428.3(LTBP2):c.1833G>A (p.Gly611=)
|
rs775155970
|
|
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly)
|
rs199581688
|
|
NM_000428.3(LTBP2):c.2388+8C>G
|
rs201838800
|
|
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser)
|
rs1555349144
|
|
NM_000428.3(LTBP2):c.2885T>C (p.Met962Thr)
|
rs886050757
|
|
NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=)
|
rs886050756
|
|
NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp)
|
rs369840829
|
|
NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp)
|
rs200532538
|
|
NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp)
|
rs2087004341
|
|
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)
|
|
|
NM_000428.3(LTBP2):c.4232T>G (p.Met1411Arg)
|
rs578210394
|
|
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala)
|
rs758952168
|
|
NM_000428.3(LTBP2):c.4955G>T (p.Arg1652Leu)
|
rs773510546
|
|
NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=)
|
rs372981316
|
|
NM_000428.3(LTBP2):c.804G>A (p.Pro268=)
|
rs139052892
|
|
NM_000428.3(LTBP2):c.804_821del (p.265PQSPPA[1])
|
rs554570575
|
|
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3])
|
rs554570575
|
|
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg)
|
rs1600976255
|
|
NM_000516.7(GNAS):c.258-6C>G
|
|
|
NM_000516.7(GNAS):c.284T>A (p.Ile95Asn)
|
|
|
NM_000516.7(GNAS):c.313-3C>G
|
|
|
NM_000516.7(GNAS):c.380G>C (p.Arg127Thr)
|
|
|
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys)
|
rs2146184314
|
|
NM_000516.7(GNAS):c.470_472del (p.Glu157del)
|
rs2146209517
|
|
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)
|
|
|
NM_000516.7(GNAS):c.950G>A (p.Arg317His)
|
rs1369025856
|
|
NM_000516.7(GNAS):c.967G>C (p.Asp323His)
|
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_001104631.2(PDE4D):c.*1020_*1022dup
|
rs886060711
|
|
NM_001104631.2(PDE4D):c.*1446T>C
|
rs886060707
|
|
NM_001104631.2(PDE4D):c.*1729G>C
|
rs751797196
|
|
NM_001104631.2(PDE4D):c.*1778T>C
|
rs1580002684
|
|
NM_001104631.2(PDE4D):c.*2028TAGA[3]
|
rs780381459
|
|
NM_001104631.2(PDE4D):c.*2185T>G
|
rs1742786887
|
|
NM_001104631.2(PDE4D):c.*2198C>T
|
rs1742783371
|
|
NM_001104631.2(PDE4D):c.*2225C>T
|
rs1742779838
|
|
NM_001104631.2(PDE4D):c.*2841A>C
|
rs1038876803
|
|
NM_001104631.2(PDE4D):c.*3028A>G
|
rs1742609985
|
|
NM_001104631.2(PDE4D):c.*3165_*3166del
|
rs760712576
|
|
NM_001104631.2(PDE4D):c.*3210A>G
|
rs1742583103
|
|
NM_001104631.2(PDE4D):c.*3325T>C
|
rs1742565588
|
|
NM_001104631.2(PDE4D):c.*33dup
|
rs10718401
|
|
NM_001104631.2(PDE4D):c.*348_*351del
|
rs35684984
|
|
NM_001104631.2(PDE4D):c.*3562T>C
|
rs886060706
|
|
NM_001104631.2(PDE4D):c.*3754_*3755dup
|
rs34128632
|
|
NM_001104631.2(PDE4D):c.*3844G>A
|
rs886060705
|
|
NM_001104631.2(PDE4D):c.*4274ATTTT[4]
|
rs766825126
|
|
NM_001104631.2(PDE4D):c.*4524C>T
|
rs1742364726
|
|
NM_001104631.2(PDE4D):c.*4529C>T
|
rs1742363826
|
|
NM_001104631.2(PDE4D):c.*4727C>G
|
rs1742320588
|
|
NM_001104631.2(PDE4D):c.*5201G>A
|
rs1742226834
|
|
NM_001104631.2(PDE4D):c.*5413G>C
|
rs538935097
|
|
NM_001104631.2(PDE4D):c.*5545C>A
|
rs886060700
|
|
NM_001104631.2(PDE4D):c.*582dup
|
rs886060714
|
|
NM_001104631.2(PDE4D):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001104631.2(PDE4D):c.1038T>G (p.Ile346Met)
|
|
|
NM_001104631.2(PDE4D):c.1189-9dup
|
rs368587062
|
|
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro)
|
rs1747740719
|
|
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val)
|
rs1747451452
|
|
NM_001104631.2(PDE4D):c.1707+12A>C
|
rs1744027001
|
|
NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln)
|
rs1743815247
|
|
NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp)
|
rs1743287865
|
|
NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu)
|
rs1186516969
|
|
NM_001104631.2(PDE4D):c.430C>T (p.Pro144Ser)
|
|
|
NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe)
|
rs2153344901
|
|
NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)
|
|
|
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala)
|
rs1569551838
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu)
|
rs1557177412
|
|
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly)
|
rs2148110326
|
|
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
|
rs1569551874
|
|
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
|
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
NM_001130144.3(LTBP3):c.1942C>T (p.Arg648Cys)
|
rs763889449
|
|
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys)
|
rs1554974135
|
|
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del)
|
rs71036212
|
|
NM_001276290.1(PRKAR1A):c.973+3439G>T
|
rs2086031493
|
|
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys)
|
rs2106307025
|
|
NM_002181.4(IHH):c.217C>T (p.Arg73Cys)
|
rs2106310521
|
|
NM_002181.4(IHH):c.518C>A (p.Ala173Asp)
|
|
|
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)
|
rs1574689480
|
|
NM_002181.4(IHH):c.851C>T (p.Thr284Met)
|
rs1257383778
|
|
NM_002181.4(IHH):c.88C>A (p.Pro30Thr)
|
rs1574689457
|
|
NM_002734.5(PRKAR1A):c.*1003C>T
|
rs2085973222
|
|
NM_002734.5(PRKAR1A):c.*1111C>G
|
rs2085976100
|
|
NM_002734.5(PRKAR1A):c.*1118dup
|
rs886053312
|
|
NM_002734.5(PRKAR1A):c.*1168A>T
|
rs886053313
|
|
NM_002734.5(PRKAR1A):c.*1640C>T
|
rs2085991084
|
|
NM_002734.5(PRKAR1A):c.*1838A>T
|
rs2085997664
|
|
NM_002734.5(PRKAR1A):c.*1839G>A
|
rs886053316
|
|
NM_002734.5(PRKAR1A):c.*1842A>T
|
rs886053317
|
|
NM_002734.5(PRKAR1A):c.*1949G>T
|
rs1600501089
|
|
NM_002734.5(PRKAR1A):c.*2018C>T
|
rs540185706
|
|
NM_002734.5(PRKAR1A):c.*2067T>C
|
rs886053318
|
|
NM_002734.5(PRKAR1A):c.*2072G>A
|
rs886053319
|
|
NM_002734.5(PRKAR1A):c.*2089A>G
|
rs577964161
|
|
NM_002734.5(PRKAR1A):c.*2114G>A
|
rs573817614
|
|
NM_002734.5(PRKAR1A):c.*2152T>C
|
rs2086006345
|
|
NM_002734.5(PRKAR1A):c.*389T>G
|
rs886053307
|
|
NM_002734.5(PRKAR1A):c.*560G>A
|
rs1029548849
|
|
NM_002734.5(PRKAR1A):c.*587del
|
rs398041821
|
|
NM_002734.5(PRKAR1A):c.*609C>G
|
rs1307801222
|
|
NM_002734.5(PRKAR1A):c.*704T>G
|
rs886053310
|
|
NM_002734.5(PRKAR1A):c.*812A>G
|
rs116996069
|
|
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln)
|
rs746486900
|
|
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)
|
rs778468626
|
|
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr)
|
rs1472324247
|
|
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr)
|
rs1253034687
|
|
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)
|
|
|
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del)
|
rs1308936763
|
|
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu)
|
rs1568696484
|
|
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile)
|
rs773162575
|
|
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)
|
|
|
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr)
|
rs1555814054
|
|
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)
|
|
|
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp)
|
rs2085773408
|
|
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His)
|
rs2143324114
|
|
NM_002734.5(PRKAR1A):c.770-8T>G
|
rs182841147
|
|
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met)
|
rs1329426125
|
|
NM_005359.6(SMAD4):c.*1036C>G
|
rs1910555271
|
|
NM_005359.6(SMAD4):c.*1141A>G
|
rs1910558915
|
|
NM_005359.6(SMAD4):c.*1177G>A
|
rs886053899
|
|
NM_005359.6(SMAD4):c.*1502T>C
|
rs1224074483
|
|
NM_005359.6(SMAD4):c.*1512dup
|
rs755827115
|
|
NM_005359.6(SMAD4):c.*1513A>T
|
rs75142398
|
|
NM_005359.6(SMAD4):c.*1564_*1567del
|
rs886053903
|
|
NM_005359.6(SMAD4):c.*1801A>G
|
rs886053904
|
|
NM_005359.6(SMAD4):c.*1837C>T
|
|
|
NM_005359.6(SMAD4):c.*2099G>A
|
rs1037211183
|
|
NM_005359.6(SMAD4):c.*2215C>T
|
rs1035348290
|
|
NM_005359.6(SMAD4):c.*241T>C
|
rs886053896
|
|
NM_005359.6(SMAD4):c.*2461C>T
|
rs886053906
|
|
NM_005359.6(SMAD4):c.*2561G>C
|
rs1910600689
|
|
NM_005359.6(SMAD4):c.*2674A>G
|
rs886053907
|
|
NM_005359.6(SMAD4):c.*2707_*2711del
|
rs769541605
|
|
NM_005359.6(SMAD4):c.*2941A>G
|
rs1419101937
|
|
NM_005359.6(SMAD4):c.*3109T>A
|
rs886053910
|
|
NM_005359.6(SMAD4):c.*3109T>C
|
rs886053910
|
|
NM_005359.6(SMAD4):c.*3226G>C
|
rs528878031
|
|
NM_005359.6(SMAD4):c.*3286A>T
|
rs886053912
|
|
NM_005359.6(SMAD4):c.*3638T>G
|
rs886053914
|
|
NM_005359.6(SMAD4):c.*3679A>G
|
rs1910625936
|
|
NM_005359.6(SMAD4):c.*3746A>C
|
rs1910627143
|
|
NM_005359.6(SMAD4):c.*3950A>G
|
rs1910632230
|
|
NM_005359.6(SMAD4):c.*4085C>A
|
rs886053917
|
|
NM_005359.6(SMAD4):c.*4987T>C
|
rs188228460
|
|
NM_005359.6(SMAD4):c.*4991dup
|
rs886053919
|
|
NM_005359.6(SMAD4):c.*5004_*5005dup
|
rs113155703
|
|
NM_005359.6(SMAD4):c.*5530T>C
|
rs886053921
|
|
NM_005359.6(SMAD4):c.*5535_*5540del
|
rs147193925
|
|
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA
|
rs886053923
|
|
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG
|
rs886053924
|
|
NM_005359.6(SMAD4):c.*5535_*5549delinsG
|
rs886053925
|
|
NM_005359.6(SMAD4):c.*5537GC[4]
|
rs68159021
|
|
NM_005359.6(SMAD4):c.*5537GC[7]
|
rs68159021
|
|
NM_005359.6(SMAD4):c.*5546CA[13]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[14]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[15]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[17]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[20]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546CA[23]
|
rs56017493
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC
|
rs1555688055
|
|
NM_005359.6(SMAD4):c.*5609T>G
|
rs1910688039
|
|
NM_005359.6(SMAD4):c.*5631A>G
|
rs1046084651
|
|
NM_005359.6(SMAD4):c.*5710T>A
|
rs1910691490
|
|
NM_005359.6(SMAD4):c.*5757dup
|
rs886053931
|
|
NM_005359.6(SMAD4):c.*5791C>T
|
rs886053932
|
|
NM_005359.6(SMAD4):c.*5874C>T
|
rs886053933
|
|
NM_005359.6(SMAD4):c.*6057G>T
|
rs886053935
|
|
NM_005359.6(SMAD4):c.*6158GATT[1]
|
rs886053936
|
|
NM_005359.6(SMAD4):c.*704G>C
|
rs964306349
|
|
NM_005359.6(SMAD4):c.*745C>T
|
rs1910546788
|
|
NM_005359.6(SMAD4):c.*936A>G
|
rs1910552244
|
|
NM_005359.6(SMAD4):c.-233G>C
|
rs886053890
|
|
NM_005359.6(SMAD4):c.-313C>A
|
rs886053889
|
|
NM_005359.6(SMAD4):c.-3C>A
|
rs886053892
|
|
NM_005359.6(SMAD4):c.-400C>A
|
rs1410779875
|
|
NM_005359.6(SMAD4):c.-476C>A
|
rs886053887
|
|
NM_005359.6(SMAD4):c.-506ACA[1]
|
rs886053885
|
|
NM_005359.6(SMAD4):c.-69G>A
|
rs772186355
|
|
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)
|
rs1568211184
|
|
NM_005359.6(SMAD4):c.1447+15C>A
|
rs1910484768
|
|
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)
|
rs760840557
|
|
NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn)
|
rs1910523061
|
|
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)
|
rs1057524809
|
|
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)
|
rs1910526660
|
|
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)
|
rs549489716
|
|
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)
|
rs1064793950
|
|
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)
|
rs786204166
|
|
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg)
|
rs1555685038
|
|
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)
|
rs1568206043
|
|
NM_005359.6(SMAD4):c.87T>G (p.Gly29=)
|
rs886053893
|
|
NM_005359.6(SMAD4):c.908C>A (p.Pro303His)
|
rs2144433151
|
|
NM_014112.5(TRPS1):c.*1843del
|
rs886062619
|
|
NM_014112.5(TRPS1):c.*1983_*1984insG
|
rs886062618
|
|
NM_014112.5(TRPS1):c.*2740del
|
rs879823190
|
|
NM_014112.5(TRPS1):c.*3538del
|
rs547899966
|
|
NM_014112.5(TRPS1):c.*4593AAAGG[1]
|
rs755682849
|
|
NM_014112.5(TRPS1):c.*4741del
|
rs886062604
|
|
NM_014112.5(TRPS1):c.*4754_*4761dup
|
rs755990611
|
|
NM_014112.5(TRPS1):c.*4845ATA[1]
|
rs775143556
|
|
NM_014112.5(TRPS1):c.-318CT[13]
|
rs10546472
|
|
NM_014112.5(TRPS1):c.-318CT[9]
|
rs10546472
|
|
NM_014112.5(TRPS1):c.-320_-319del
|
rs199575103
|
|
NM_014112.5(TRPS1):c.-382del
|
rs886062631
|
|
NM_014112.5(TRPS1):c.-393_-392dup
|
rs759303878
|
|
NM_014112.5(TRPS1):c.1026C>A (p.Asn342Lys)
|
rs1407182463
|
|
NM_014112.5(TRPS1):c.1040G>A (p.Arg347His)
|
|
|
NM_014112.5(TRPS1):c.1084G>A (p.Glu362Lys)
|
|
|
NM_014112.5(TRPS1):c.1150G>T (p.Val384Phe)
|
|
|
NM_014112.5(TRPS1):c.1154C>A (p.Ala385Glu)
|
|
|
NM_014112.5(TRPS1):c.1196T>G (p.Leu399Arg)
|
|
|
NM_014112.5(TRPS1):c.1217A>G (p.Asp406Gly)
|
|
|
NM_014112.5(TRPS1):c.1219T>A (p.Leu407Met)
|
rs1817996176
|
|
NM_014112.5(TRPS1):c.1244C>T (p.Thr415Ile)
|
|
|
NM_014112.5(TRPS1):c.1333A>C (p.Ser445Arg)
|
|
|
NM_014112.5(TRPS1):c.1339T>C (p.Tyr447His)
|
|
|
NM_014112.5(TRPS1):c.1346G>A (p.Cys449Tyr)
|
|
|
NM_014112.5(TRPS1):c.1353T>G (p.Phe451Leu)
|
|
|
NM_014112.5(TRPS1):c.140A>G (p.Asn47Ser)
|
|
|
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)
|
|
|
NM_014112.5(TRPS1):c.1435G>A (p.Gly479Ser)
|
|
|
NM_014112.5(TRPS1):c.1558AAG[1] (p.Lys521del)
|
|
|
NM_014112.5(TRPS1):c.1615C>A (p.Gln539Lys)
|
|
|
NM_014112.5(TRPS1):c.1652C>T (p.Pro551Leu)
|
rs2130491714
|
|
NM_014112.5(TRPS1):c.1654G>C (p.Asp552His)
|
|
|
NM_014112.5(TRPS1):c.1657G>C (p.Val553Leu)
|
rs780734185
|
|
NM_014112.5(TRPS1):c.1663G>T (p.Val555Leu)
|
|
|
NM_014112.5(TRPS1):c.1697T>G (p.Leu566Arg)
|
|
|
NM_014112.5(TRPS1):c.1718C>T (p.Thr573Ile)
|
rs2130491431
|
|
NM_014112.5(TRPS1):c.17A>G (p.Asn6Ser)
|
|
|
NM_014112.5(TRPS1):c.1846T>A (p.Ser616Thr)
|
rs780551240
|
|
NM_014112.5(TRPS1):c.1877A>G (p.Lys626Arg)
|
|
|
NM_014112.5(TRPS1):c.1951G>A (p.Glu651Lys)
|
rs1174923595
|
|
NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)
|
|
|
NM_014112.5(TRPS1):c.1975C>A (p.Gln659Lys)
|
|
|
NM_014112.5(TRPS1):c.1976AAG[1] (p.Glu660del)
|
|
|
NM_014112.5(TRPS1):c.2026A>G (p.Ser676Gly)
|
|
|
NM_014112.5(TRPS1):c.2031A>C (p.Lys677Asn)
|
|
|
NM_014112.5(TRPS1):c.2036A>T (p.His679Leu)
|
|
|
NM_014112.5(TRPS1):c.2107A>C (p.Ser703Arg)
|
|
|
NM_014112.5(TRPS1):c.2108G>A (p.Ser703Asn)
|
|
|
NM_014112.5(TRPS1):c.212A>G (p.Glu71Gly)
|
|
|
NM_014112.5(TRPS1):c.2183A>G (p.His728Arg)
|
|
|
NM_014112.5(TRPS1):c.2195A>G (p.Gln732Arg)
|
|
|
NM_014112.5(TRPS1):c.2213A>G (p.Asn738Ser)
|
|
|
NM_014112.5(TRPS1):c.2236A>C (p.Ile746Leu)
|
|
|
NM_014112.5(TRPS1):c.2251G>C (p.Glu751Gln)
|
rs1207875402
|
|
NM_014112.5(TRPS1):c.2297A>C (p.Asp766Ala)
|
rs1817588637
|
|
NM_014112.5(TRPS1):c.2397T>A (p.Ser799Arg)
|
|
|
NM_014112.5(TRPS1):c.2441G>A (p.Arg814Gln)
|
rs146506752
|
|
NM_014112.5(TRPS1):c.2444G>T (p.Gly815Val)
|
rs763124273
|
|
NM_014112.5(TRPS1):c.2469C>G (p.Ser823Arg)
|
|
|
NM_014112.5(TRPS1):c.2542G>A (p.Ala848Thr)
|
|
|
NM_014112.5(TRPS1):c.2572T>G (p.Leu858Val)
|
|
|
NM_014112.5(TRPS1):c.2601G>T (p.Gln867His)
|
rs1817576456
|
|
NM_014112.5(TRPS1):c.2609C>T (p.Pro870Leu)
|
|
|
NM_014112.5(TRPS1):c.2627C>A (p.Ser876Tyr)
|
|
|
NM_014112.5(TRPS1):c.2638C>T (p.Pro880Ser)
|
|
|
NM_014112.5(TRPS1):c.2650C>T (p.Pro884Ser)
|
rs2130443313
|
|
NM_014112.5(TRPS1):c.2683T>G (p.Ser895Ala)
|
rs2130443107
|
|
NM_014112.5(TRPS1):c.2697A>T (p.Leu899Phe)
|
|
|
NM_014112.5(TRPS1):c.2700G>C (p.Arg900=)
|
rs2130443039
|
|
NM_014112.5(TRPS1):c.2725T>C (p.Cys909Arg)
|
|
|
NM_014112.5(TRPS1):c.2735G>T (p.Cys912Phe)
|
|
|
NM_014112.5(TRPS1):c.2750C>T (p.Thr917Ile)
|
|
|
NM_014112.5(TRPS1):c.2753C>T (p.Ser918Phe)
|
|
|
NM_014112.5(TRPS1):c.275T>C (p.Val92Ala)
|
rs1818352045
|
|
NM_014112.5(TRPS1):c.2769T>G (p.Asn923Lys)
|
rs775374141
|
|
NM_014112.5(TRPS1):c.2788T>C (p.Cys930Arg)
|
rs1812971696
|
|
NM_014112.5(TRPS1):c.2788T>G (p.Cys930Gly)
|
rs1812971696
|
|
NM_014112.5(TRPS1):c.2792A>T (p.Asn931Ile)
|
|
|
NM_014112.5(TRPS1):c.2803C>T (p.Leu935Phe)
|
rs1812970992
|
|
NM_014112.5(TRPS1):c.2891A>C (p.Lys964Thr)
|
rs1812883227
|
|
NM_014112.5(TRPS1):c.2907G>C (p.Glu969Asp)
|
|
|
NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)
|
|
|
NM_014112.5(TRPS1):c.2975C>T (p.Pro992Leu)
|
|
|
NM_014112.5(TRPS1):c.3020G>A (p.Arg1007Lys)
|
|
|
NM_014112.5(TRPS1):c.3028C>G (p.Pro1010Ala)
|
|
|
NM_014112.5(TRPS1):c.304G>A (p.Glu102Lys)
|
|
|
NM_014112.5(TRPS1):c.3052G>A (p.Glu1018Lys)
|
|
|
NM_014112.5(TRPS1):c.3060G>T (p.Gln1020His)
|
|
|
NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro)
|
rs1286729898
|
|
NM_014112.5(TRPS1):c.3176C>G (p.Thr1059Ser)
|
|
|
NM_014112.5(TRPS1):c.3185C>T (p.Pro1062Leu)
|
|
|
NM_014112.5(TRPS1):c.323G>A (p.Gly108Glu)
|
rs1206269604
|
|
NM_014112.5(TRPS1):c.3317C>A (p.Pro1106Gln)
|
|
|
NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser)
|
rs1812867470
|
|
NM_014112.5(TRPS1):c.3364G>A (p.Asp1122Asn)
|
|
|
NM_014112.5(TRPS1):c.3374G>A (p.Arg1125Gln)
|
|
|
NM_014112.5(TRPS1):c.341C>T (p.Pro114Leu)
|
|
|
NM_014112.5(TRPS1):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_014112.5(TRPS1):c.3502G>T (p.Ala1168Ser)
|
|
|
NM_014112.5(TRPS1):c.3505G>T (p.Val1169Phe)
|
|
|
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly)
|
rs986339998
|
|
NM_014112.5(TRPS1):c.3518A>G (p.Asn1173Ser)
|
|
|
NM_014112.5(TRPS1):c.3584A>G (p.Lys1195Arg)
|
|
|
NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)
|
|
|
NM_014112.5(TRPS1):c.361A>G (p.Arg121Gly)
|
rs964024525
|
|
NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly)
|
rs2129746312
|
|
NM_014112.5(TRPS1):c.3629T>G (p.Leu1210Trp)
|
rs2129746217
|
|
NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)
|
|
|
NM_014112.5(TRPS1):c.37+7G>A
|
|
|
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)
|
|
|
NM_014112.5(TRPS1):c.3717T>A (p.Asp1239Glu)
|
|
|
NM_014112.5(TRPS1):c.3724A>T (p.Met1242Leu)
|
|
|
NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)
|
|
|
NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr)
|
rs1812855223
|
|
NM_014112.5(TRPS1):c.3749A>C (p.His1250Pro)
|
rs2129745482
|
|
NM_014112.5(TRPS1):c.3749A>G (p.His1250Arg)
|
|
|
NM_014112.5(TRPS1):c.3751G>A (p.Gly1251Ser)
|
rs1234476401
|
|
NM_014112.5(TRPS1):c.3833G>C (p.Gly1278Ala)
|
|
|
NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs)
|
rs1401148397
|
|
NM_014112.5(TRPS1):c.388G>C (p.Ala130Pro)
|
|
|
NM_014112.5(TRPS1):c.416A>G (p.Lys139Arg)
|
|
|
NM_014112.5(TRPS1):c.461G>A (p.Cys154Tyr)
|
|
|
NM_014112.5(TRPS1):c.49A>G (p.Lys17Glu)
|
|
|
NM_014112.5(TRPS1):c.504G>T (p.Lys168Asn)
|
|
|
NM_014112.5(TRPS1):c.570G>C (p.Leu190Phe)
|
|
|
NM_014112.5(TRPS1):c.586G>A (p.Ala196Thr)
|
|
|
NM_014112.5(TRPS1):c.587C>T (p.Ala196Val)
|
|
|
NM_014112.5(TRPS1):c.599C>T (p.Pro200Leu)
|
|
|
NM_014112.5(TRPS1):c.653T>G (p.Leu218Arg)
|
|
|
NM_014112.5(TRPS1):c.713A>G (p.Asn238Ser)
|
|
|
NM_014112.5(TRPS1):c.805C>G (p.Gln269Glu)
|
rs770670680
|
|
NM_014112.5(TRPS1):c.895G>T (p.Val299Leu)
|
|
|
NM_014112.5(TRPS1):c.923A>G (p.Asn308Ser)
|
|
|
NM_014112.5(TRPS1):c.926C>T (p.Ser309Phe)
|
|
|
NM_014112.5(TRPS1):c.940T>A (p.Leu314Ile)
|
|
|
NM_014694.4(ADAMTSL2):c.*291C>T
|
rs1588315349
|
|
NM_014694.4(ADAMTSL2):c.*304C>G
|
rs1831200986
|
|
NM_014694.4(ADAMTSL2):c.*490C>T
|
rs886063651
|
|
NM_014694.4(ADAMTSL2):c.*98C>T
|
rs1831194918
|
|
NM_014694.4(ADAMTSL2):c.-90G>C
|
rs1830058692
|
|
NM_014694.4(ADAMTSL2):c.1042G>C (p.Glu348Gln)
|
rs538276028
|
|
NM_014694.4(ADAMTSL2):c.1074C>T (p.Ala358=)
|
rs370480318
|
|
NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr)
|
rs200378599
|
|
NM_014694.4(ADAMTSL2):c.1280G>A (p.Arg427His)
|
rs540447841
|
|
NM_014694.4(ADAMTSL2):c.1321G>A (p.Glu441Lys)
|
|
|
NM_014694.4(ADAMTSL2):c.1355TCT[1] (p.Phe453del)
|
rs886063641
|
|
NM_014694.4(ADAMTSL2):c.1623G>A (p.Ser541=)
|
rs1170756141
|
|
NM_014694.4(ADAMTSL2):c.1713G>A (p.Ser571=)
|
rs971630043
|
|
NM_014694.4(ADAMTSL2):c.1936G>A (p.Val646Ile)
|
rs1831024149
|
|
NM_014694.4(ADAMTSL2):c.2089-7G>A
|
rs1426097159
|
|
NM_014694.4(ADAMTSL2):c.2142G>A (p.Ser714=)
|
rs11542920
|
|
NM_014694.4(ADAMTSL2):c.2245T>C (p.Cys749Arg)
|
|
|
NM_014694.4(ADAMTSL2):c.2506G>A (p.Glu836Lys)
|
rs886063646
|
|
NM_014694.4(ADAMTSL2):c.2512G>A (p.Gly838Arg)
|
rs886063647
|
|
NM_014694.4(ADAMTSL2):c.2518G>C (p.Ala840Pro)
|
rs886063648
|
|
NM_014694.4(ADAMTSL2):c.2597C>T (p.Thr866Ile)
|
rs1831166200
|
|
NM_014694.4(ADAMTSL2):c.2653G>A (p.Asp885Asn)
|
rs561084765
|
|
NM_014694.4(ADAMTSL2):c.2737+13G>A
|
rs930552062
|
|
NM_014694.4(ADAMTSL2):c.2839A>G (p.Arg947Gly)
|
rs1389223791
|
|
NM_014694.4(ADAMTSL2):c.2849A>G (p.His950Arg)
|
rs1831191982
|
|
NM_014694.4(ADAMTSL2):c.392A>G (p.Gln131Arg)
|
rs761328410
|
|
NM_014694.4(ADAMTSL2):c.682+10A>G
|
rs199776835
|
|
NM_014694.4(ADAMTSL2):c.707C>T (p.Pro236Leu)
|
|
|
NM_014694.4(ADAMTSL2):c.725T>A (p.Ile242Asn)
|
rs2131111768
|
|
NM_014694.4(ADAMTSL2):c.804C>T (p.Asn268=)
|
rs1830367278
|
|
NM_014694.4(ADAMTSL2):c.845C>T (p.Thr282Met)
|
rs1830368432
|
|
NM_014714.4(IFT140):c.*158G>C
|
rs886051707
|
|
NM_014714.4(IFT140):c.*226T>G
|
rs886051706
|
|
NM_014714.4(IFT140):c.*278C>A
|
rs886051705
|
|
NM_014714.4(IFT140):c.*91G>T
|
rs2040116815
|
|
NM_014714.4(IFT140):c.-24C>G
|
rs373009406
|
|
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln)
|
rs752956717
|
|
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
|
|
|
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr)
|
rs1188370536
|
|
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu)
|
rs2141840176
|
|
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser)
|
rs750247837
|
|
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
|
|
|
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
|
|
|
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr)
|
rs765706103
|
|
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg)
|
rs1487413546
|
|
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
|
|
|
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu)
|
rs2034866707
|
|
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg)
|
rs2034865826
|
|
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn)
|
rs747462746
|
|
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala)
|
rs748786377
|
|
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
|
|
|
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala)
|
rs1331143723
|
|
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
|
|
|
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
|
|
|
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
|
|
|
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
|
|
|
NM_014714.4(IFT140):c.1334A>G (p.His445Arg)
|
rs2141817075
|
|
NM_014714.4(IFT140):c.1359+13G>A
|
|
|
NM_014714.4(IFT140):c.1359G>A (p.Lys453=)
|
rs2034740047
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1380C>T (p.Asn460=)
|
rs1339640657
|
|
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
|
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1406T>A (p.Leu469His)
|
rs924912054
|
|
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr)
|
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
|
|
|
NM_014714.4(IFT140):c.1432+5G>A
|
|
|
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr)
|
rs1596402406
|
|
NM_014714.4(IFT140):c.1465A>G (p.Met489Val)
|
rs778765501
|
|
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp)
|
rs2141751528
|
|
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala)
|
|
|
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala)
|
rs2141751314
|
|
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
|
|
|
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
|
|
|
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
|
|
|
NM_014714.4(IFT140):c.150G>T (p.Gly50=)
|
rs1257577001
|
|
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
|
|
|
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)
|
|
|
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)
|
|
|
NM_014714.4(IFT140):c.1525-5_1525-3del
|
rs757146365
|
|
NM_014714.4(IFT140):c.1528A>G (p.Thr510Ala)
|
|
|
NM_014714.4(IFT140):c.1529C>T (p.Thr510Ile)
|
|
|
NM_014714.4(IFT140):c.1535A>G (p.Lys512Arg)
|
rs2141634655
|
|
NM_014714.4(IFT140):c.1541T>G (p.Leu514Arg)
|
rs150903791
|
|
NM_014714.4(IFT140):c.1542CCT[1] (p.Leu516del)
|
|
|
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)
|
rs886051770
|
|
NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
|
|
|
NM_014714.4(IFT140):c.1582G>C (p.Asp528His)
|
|
|
NM_014714.4(IFT140):c.1641T>G (p.Asp547Glu)
|
|
|
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
|
NM_014714.4(IFT140):c.1652+4A>G
|
|
|
NM_014714.4(IFT140):c.1652+5A>T
|
rs1332507276
|
|
NM_014714.4(IFT140):c.1663G>A (p.Ala555Thr)
|
rs1318199702
|
|
NM_014714.4(IFT140):c.1669T>C (p.Cys557Arg)
|
|
|
NM_014714.4(IFT140):c.1677C>G (p.Cys559Trp)
|
rs2033834541
|
|
NM_014714.4(IFT140):c.1679G>A (p.Arg560Lys)
|
|
|
NM_014714.4(IFT140):c.1682G>T (p.Ser561Ile)
|
|
|
NM_014714.4(IFT140):c.1703G>A (p.Gly568Glu)
|
rs768821637
|
|
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1717G>T (p.Ala573Ser)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro)
|
rs2033831042
|
|
NM_014714.4(IFT140):c.1727G>C (p.Arg576Pro)
|
rs373111085
|
|
NM_014714.4(IFT140):c.172G>A (p.Val58Ile)
|
|
|
NM_014714.4(IFT140):c.1732AGC[4] (p.Ser580dup)
|
rs2141595569
|
|
NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn)
|
rs1019259823
|
|
NM_014714.4(IFT140):c.1739G>C (p.Ser580Thr)
|
rs1019259823
|
|
NM_014714.4(IFT140):c.173T>G (p.Val58Gly)
|
|
|
NM_014714.4(IFT140):c.1753A>C (p.Ser585Arg)
|
|
|
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys)
|
|
|
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr)
|
rs751413638
|
|
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp)
|
rs1431384802
|
|
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg)
|
rs2033711810
|
|
NM_014714.4(IFT140):c.1792A>G (p.Lys598Glu)
|
rs2141571032
|
|
NM_014714.4(IFT140):c.1816A>G (p.Met606Val)
|
rs1319739285
|
|
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser)
|
rs886051769
|
|
NM_014714.4(IFT140):c.1854A>C (p.Gln618His)
|
rs765410918
|
|
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
|
|
|
NM_014714.4(IFT140):c.1859A>C (p.Asp620Ala)
|
|
|
NM_014714.4(IFT140):c.1867G>C (p.Glu623Gln)
|
|
|
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met)
|
rs891304446
|
|
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro)
|
rs765411860
|
|
NM_014714.4(IFT140):c.1890A>G (p.Gln630=)
|
rs2141569269
|
|
NM_014714.4(IFT140):c.1891G>A (p.Glu631Lys)
|
|
|
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln)
|
rs777613696
|
|
NM_014714.4(IFT140):c.190G>C (p.Val64Leu)
|
|
|
NM_014714.4(IFT140):c.1937A>G (p.Tyr646Cys)
|
rs762218450
|
|
NM_014714.4(IFT140):c.1945G>A (p.Val649Met)
|
rs534052238
|
|
NM_014714.4(IFT140):c.1952A>G (p.His651Arg)
|
|
|
NM_014714.4(IFT140):c.1957T>C (p.Trp653Arg)
|
|
|
NM_014714.4(IFT140):c.1968_1969inv (p.Glu657Lys)
|
|
|
NM_014714.4(IFT140):c.1973C>T (p.Pro658Leu)
|
|
|
NM_014714.4(IFT140):c.1976G>T (p.Arg659Leu)
|
|
|
NM_014714.4(IFT140):c.1978C>A (p.Leu660Met)
|
rs2033579292
|
|
NM_014714.4(IFT140):c.1989C>G (p.Cys663Trp)
|
rs781117803
|
|
NM_014714.4(IFT140):c.1996G>A (p.Val666Met)
|
|
|
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
|
|
|
NM_014714.4(IFT140):c.2021C>T (p.Pro674Leu)
|
rs1240961381
|
|
NM_014714.4(IFT140):c.2023C>A (p.Gln675Lys)
|
rs1202626787
|
|
NM_014714.4(IFT140):c.2030C>T (p.Ala677Val)
|
rs1339244784
|
|
NM_014714.4(IFT140):c.2056G>A (p.Ala686Thr)
|
|
|
NM_014714.4(IFT140):c.2067+4C>G
|
rs111785408
|
|
NM_014714.4(IFT140):c.2068-3C>G
|
rs2033444839
|
|
NM_014714.4(IFT140):c.2089TTC[1] (p.Phe698del)
|
rs768883274
|
|
NM_014714.4(IFT140):c.208C>T (p.His70Tyr)
|
rs2142042420
|
|
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser)
|
rs1343501211
|
|
NM_014714.4(IFT140):c.2101G>A (p.Glu701Lys)
|
|
|
NM_014714.4(IFT140):c.2105A>G (p.Glu702Gly)
|
rs2033441889
|
|
NM_014714.4(IFT140):c.2111G>A (p.Gly704Asp)
|
|
|
NM_014714.4(IFT140):c.2123A>G (p.His708Arg)
|
rs2033440134
|
|
NM_014714.4(IFT140):c.2125G>A (p.Glu709Lys)
|
|
|
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
|
|
|
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg)
|
|
|
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
|
|
|
NM_014714.4(IFT140):c.2158C>G (p.Leu720Val)
|
rs756482228
|
|
NM_014714.4(IFT140):c.2174T>C (p.Val725Ala)
|
|
|
NM_014714.4(IFT140):c.2177C>A (p.Pro726His)
|
rs1417500285
|
|
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln)
|
rs149202904
|
|
NM_014714.4(IFT140):c.2194A>G (p.Arg732Gly)
|
rs2033435038
|
|
NM_014714.4(IFT140):c.2199G>A (p.Lys733=)
|
rs752216380
|
|
NM_014714.4(IFT140):c.2200C>T (p.Pro734Ser)
|
rs1298153861
|
|
NM_014714.4(IFT140):c.2204A>G (p.Glu735Gly)
|
|
|
NM_014714.4(IFT140):c.2221G>A (p.Asp741Asn)
|
|
|
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile)
|
rs2033203151
|
|
NM_014714.4(IFT140):c.2273C>T (p.Pro758Leu)
|
|
|
NM_014714.4(IFT140):c.2287G>A (p.Val763Met)
|
|
|
NM_014714.4(IFT140):c.2315C>T (p.Thr772Ile)
|
|
|
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
|
rs2033196611
|
|
NM_014714.4(IFT140):c.2359G>C (p.Asp787His)
|
|
|
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val)
|
rs1555486589
|
|
NM_014714.4(IFT140):c.2368G>A (p.Glu790Lys)
|
|
|
NM_014714.4(IFT140):c.2369A>T (p.Glu790Val)
|
|
|
NM_014714.4(IFT140):c.236G>T (p.Gly79Val)
|
|
|
NM_014714.4(IFT140):c.2372C>T (p.Ala791Val)
|
rs758544371
|
|
NM_014714.4(IFT140):c.2375T>C (p.Phe792Ser)
|
rs2033194698
|
|
NM_014714.4(IFT140):c.2392A>G (p.Ile798Val)
|
|
|
NM_014714.4(IFT140):c.2399+6G>A
|
|
|
NM_014714.4(IFT140):c.2400-3del
|
rs1396232913
|
|
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2426G>A (p.Arg809His)
|
|
|
NM_014714.4(IFT140):c.2426G>C (p.Arg809Pro)
|
rs780661065
|
|
NM_014714.4(IFT140):c.2432G>T (p.Cys811Phe)
|
rs1358171484
|
|
NM_014714.4(IFT140):c.2434G>T (p.Val812Leu)
|
rs569828117
|
|
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala)
|
rs2035846064
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
NM_014714.4(IFT140):c.2479A>G (p.Met827Val)
|
rs372141549
|
|
NM_014714.4(IFT140):c.2480T>C (p.Met827Thr)
|
|
|
NM_014714.4(IFT140):c.2494G>A (p.Gly832Arg)
|
|
|
NM_014714.4(IFT140):c.2500C>G (p.Arg834Gly)
|
|
|
NM_014714.4(IFT140):c.2504C>G (p.Ala835Gly)
|
rs368232950
|
|
NM_014714.4(IFT140):c.2519A>G (p.Glu840Gly)
|
|
|
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly)
|
rs755089438
|
|
NM_014714.4(IFT140):c.251A>T (p.Glu84Val)
|
|
|
NM_014714.4(IFT140):c.2526G>C (p.Glu842Asp)
|
|
|
NM_014714.4(IFT140):c.2527C>A (p.Pro843Thr)
|
rs1567331532
|
|
NM_014714.4(IFT140):c.2530G>A (p.Glu844Lys)
|
|
|
NM_014714.4(IFT140):c.2542C>A (p.Arg848Ser)
|
|
|
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
|
|
|
NM_014714.4(IFT140):c.2564A>G (p.Gln855Arg)
|
|
|
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
|
|
|
NM_014714.4(IFT140):c.2577+3G>A
|
|
|
NM_014714.4(IFT140):c.2577+4A>T
|
rs2141184162
|
|
NM_014714.4(IFT140):c.2578-13C>T
|
rs886051723
|
|
NM_014714.4(IFT140):c.2585C>T (p.Ala862Val)
|
|
|
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
|
|
|
NM_014714.4(IFT140):c.2612G>A (p.Arg871His)
|
rs905240853
|
|
NM_014714.4(IFT140):c.2617G>C (p.Asp873His)
|
rs560840162
|
|
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser)
|
rs775517181
|
|
NM_014714.4(IFT140):c.2636A>G (p.Tyr879Cys)
|
|
|
NM_014714.4(IFT140):c.2648G>T (p.Gly883Val)
|
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_014714.4(IFT140):c.2671G>A (p.Val891Ile)
|
|
|
NM_014714.4(IFT140):c.2681A>G (p.His894Arg)
|
|
|
NM_014714.4(IFT140):c.2682C>A (p.His894Gln)
|
rs774192784
|
|
NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)
|
rs776988446
|
|
NM_014714.4(IFT140):c.2704A>C (p.Ser902Arg)
|
|
|
NM_014714.4(IFT140):c.2704A>G (p.Ser902Gly)
|
rs1433656005
|
|
NM_014714.4(IFT140):c.2709C>T (p.Thr903=)
|
rs1460776036
|
|
NM_014714.4(IFT140):c.2744C>T (p.Ala915Val)
|
|
|
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly)
|
rs548992623
|
|
NM_014714.4(IFT140):c.2764A>G (p.Ser922Gly)
|
|
|
NM_014714.4(IFT140):c.2800G>T (p.Val934Leu)
|
|
|
NM_014714.4(IFT140):c.2812C>G (p.Leu938Val)
|
rs2141175204
|
|
NM_014714.4(IFT140):c.2818G>A (p.Glu940Lys)
|
rs2141175146
|
|
NM_014714.4(IFT140):c.2825T>C (p.Leu942Pro)
|
|
|
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)
|
rs200561100
|
|
NM_014714.4(IFT140):c.2839C>A (p.Leu947Ile)
|
|
|
NM_014714.4(IFT140):c.2859G>T (p.Lys953Asn)
|
rs2040934250
|
|
NM_014714.4(IFT140):c.2864A>C (p.Lys955Thr)
|
rs2141174966
|
|
NM_014714.4(IFT140):c.2866A>G (p.Thr956Ala)
|
rs780823837
|
|
NM_014714.4(IFT140):c.2875C>T (p.Arg959Trp)
|
|
|
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys)
|
rs759898401
|
|
NM_014714.4(IFT140):c.2905G>A (p.Gly969Ser)
|
rs1343112452
|
|
NM_014714.4(IFT140):c.2907C>T (p.Gly969=)
|
rs1157630610
|
|
NM_014714.4(IFT140):c.2909A>T (p.Glu970Val)
|
rs2141172567
|
|
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)
|
rs1489901262
|
|
NM_014714.4(IFT140):c.2926C>A (p.His976Asn)
|
|
|
NM_014714.4(IFT140):c.2947G>C (p.Asp983His)
|
|
|
NM_014714.4(IFT140):c.2951A>G (p.His984Arg)
|
rs2141172218
|
|
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
|
|
|
NM_014714.4(IFT140):c.2966G>A (p.Arg989His)
|
|
|
NM_014714.4(IFT140):c.2966G>C (p.Arg989Pro)
|
|
|
NM_014714.4(IFT140):c.2990T>C (p.Val997Ala)
|
|
|
NM_014714.4(IFT140):c.2993A>G (p.Gln998Arg)
|
rs2141171936
|
|
NM_014714.4(IFT140):c.2997+3A>G
|
rs2040628786
|
|
NM_014714.4(IFT140):c.2997+6G>T
|
|
|
NM_014714.4(IFT140):c.2997+8C>G
|
rs372183503
|
|
NM_014714.4(IFT140):c.3006A>G (p.Gln1002=)
|
|
|
NM_014714.4(IFT140):c.3016G>C (p.Glu1006Gln)
|
rs375292299
|
|
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile)
|
|
|
NM_014714.4(IFT140):c.3031G>A (p.Ala1011Thr)
|
|
|
NM_014714.4(IFT140):c.3032C>T (p.Ala1011Val)
|
|
|
NM_014714.4(IFT140):c.3038C>T (p.Ser1013Phe)
|
rs2141171017
|
|
NM_014714.4(IFT140):c.304C>T (p.His102Tyr)
|
rs1596461586
|
|
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)
|
rs767290624
|
|
NM_014714.4(IFT140):c.3053G>A (p.Arg1018His)
|
|
|
NM_014714.4(IFT140):c.3053G>T (p.Arg1018Leu)
|
|
|
NM_014714.4(IFT140):c.3059A>G (p.Tyr1020Cys)
|
|
|
NM_014714.4(IFT140):c.3068AGG[2] (p.Glu1025del)
|
|
|
NM_014714.4(IFT140):c.3080G>C (p.Gly1027Ala)
|
|
|
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu)
|
rs774547622
|
|
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)
|
|
|
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn)
|
|
|
NM_014714.4(IFT140):c.3142_3144del
|
rs754866110
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu)
|
rs772739900
|
|
NM_014714.4(IFT140):c.3164T>C (p.Leu1055Pro)
|
|
|
NM_014714.4(IFT140):c.316A>G (p.Ile106Val)
|
rs1465706247
|
|
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val)
|
rs779603114
|
|
NM_014714.4(IFT140):c.3188C>T (p.Ser1063Phe)
|
|
|
NM_014714.4(IFT140):c.3190C>G (p.Pro1064Ala)
|
|
|
NM_014714.4(IFT140):c.3201G>A (p.Met1067Ile)
|
|
|
NM_014714.4(IFT140):c.3203T>C (p.Ile1068Thr)
|
|
|
NM_014714.4(IFT140):c.3207G>T (p.Glu1069Asp)
|
|
|
NM_014714.4(IFT140):c.3212C>T (p.Ala1071Val)
|
rs2040595876
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.3223GAG[1] (p.Glu1076del)
|
|
|
NM_014714.4(IFT140):c.3243G>A (p.Met1081Ile)
|
|
|
NM_014714.4(IFT140):c.3245A>T (p.Asp1082Val)
|
rs781204391
|
|
NM_014714.4(IFT140):c.3251C>T (p.Ala1084Val)
|
|
|
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe)
|
|
|
NM_014714.4(IFT140):c.3269A>G (p.Lys1090Arg)
|
rs1007805827
|
|
NM_014714.4(IFT140):c.3270+19_3270+20inv
|
|
|
NM_014714.4(IFT140):c.3272C>G (p.Ala1091Gly)
|
|
|
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)
|
rs140159548
|
|
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys)
|
rs140159548
|
|
NM_014714.4(IFT140):c.3322G>A (p.Val1108Met)
|
rs2040587996
|
|
NM_014714.4(IFT140):c.3323T>C (p.Val1108Ala)
|
|
|
NM_014714.4(IFT140):c.3364G>A (p.Asp1122Asn)
|
|
|
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu)
|
rs781672845
|
|
NM_014714.4(IFT140):c.3373C>T (p.Leu1125Phe)
|
rs1596302305
|
|
NM_014714.4(IFT140):c.3377T>C (p.Leu1126Pro)
|
|
|
NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg)
|
rs886051709
|
|
NM_014714.4(IFT140):c.3394TTC[1] (p.Phe1133del)
|
rs2040585460
|
|
NM_014714.4(IFT140):c.3404A>G (p.Glu1135Gly)
|
rs2141164034
|
|
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu)
|
rs1567326635
|
|
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile)
|
|
|
NM_014714.4(IFT140):c.3422G>A (p.Arg1141Lys)
|
|
|
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
|
rs370255916
|
|
NM_014714.4(IFT140):c.3430_3431delinsAT (p.Glu1144Met)
|
|
|
NM_014714.4(IFT140):c.3453+5G>A
|
|
|
NM_014714.4(IFT140):c.3454T>C (p.Tyr1152His)
|
|
|
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
|
|
|
NM_014714.4(IFT140):c.3496A>G (p.Ile1166Val)
|
|
|
NM_014714.4(IFT140):c.3497T>C (p.Ile1166Thr)
|
rs1294933019
|
|
NM_014714.4(IFT140):c.3499A>G (p.Thr1167Ala)
|
rs1433941335
|
|
NM_014714.4(IFT140):c.3500C>T (p.Thr1167Ile)
|
|
|
NM_014714.4(IFT140):c.3507G>C (p.Glu1169Asp)
|
rs1480279504
|
|
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)
|
rs763709094
|
|
NM_014714.4(IFT140):c.3521T>C (p.Met1174Thr)
|
|
|
NM_014714.4(IFT140):c.3526G>T (p.Val1176Leu)
|
|
|
NM_014714.4(IFT140):c.3535G>T (p.Asp1179Tyr)
|
rs1332512487
|
|
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu)
|
rs149837281
|
|
NM_014714.4(IFT140):c.3587C>T (p.Ala1196Val)
|
rs760756337
|
|
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
|
rs566568065
|
|
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys)
|
rs1457067377
|
|
NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu)
|
rs147292597
|
|
NM_014714.4(IFT140):c.3617A>G (p.His1206Arg)
|
|
|
NM_014714.4(IFT140):c.3644C>G (p.Ala1215Gly)
|
rs139871912
|
|
NM_014714.4(IFT140):c.3660+13C>T
|
rs767836990
|
|
NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys)
|
rs751861503
|
|
NM_014714.4(IFT140):c.3670G>A (p.Ala1224Thr)
|
rs373377650
|
|
NM_014714.4(IFT140):c.3682T>C (p.Ser1228Pro)
|
rs991385327
|
|
NM_014714.4(IFT140):c.369+4A>G
|
rs752104483
|
|
NM_014714.4(IFT140):c.3692C>T (p.Thr1231Met)
|
|
|
NM_014714.4(IFT140):c.370-12G>A
|
rs2141917000
|
|
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr)
|
rs376953801
|
|
NM_014714.4(IFT140):c.3739T>C (p.Tyr1247His)
|
|
|
NM_014714.4(IFT140):c.3749C>T (p.Ala1250Val)
|
|
|
NM_014714.4(IFT140):c.3758A>G (p.Tyr1253Cys)
|
rs2141144779
|
|
NM_014714.4(IFT140):c.3770T>C (p.Leu1257Pro)
|
rs1470679979
|
|
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met)
|
rs557923123
|
|
NM_014714.4(IFT140):c.3811G>A (p.Gly1271Ser)
|
|
|
NM_014714.4(IFT140):c.3833C>A (p.Ala1278Asp)
|
rs147280047
|
|
NM_014714.4(IFT140):c.3833C>T (p.Ala1278Val)
|
|
|
NM_014714.4(IFT140):c.3862G>A (p.Ala1288Thr)
|
|
|
NM_014714.4(IFT140):c.3862G>C (p.Ala1288Pro)
|
|
|
NM_014714.4(IFT140):c.3869C>T (p.Ala1290Val)
|
|
|
NM_014714.4(IFT140):c.3874G>A (p.Val1292Met)
|
rs2141143375
|
|
NM_014714.4(IFT140):c.3877_3879del (p.Glu1293del)
|
rs1413533372
|
|
NM_014714.4(IFT140):c.3879G>T (p.Glu1293Asp)
|
rs2040472652
|
|
NM_014714.4(IFT140):c.3898T>C (p.Tyr1300His)
|
|
|
NM_014714.4(IFT140):c.3935A>G (p.Lys1312Arg)
|
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])
|
rs746697405
|
|
NM_014714.4(IFT140):c.3953A>G (p.Lys1318Arg)
|
rs2141142851
|
|
NM_014714.4(IFT140):c.3955G>A (p.Ala1319Thr)
|
rs2141142844
|
|
NM_014714.4(IFT140):c.3956C>T (p.Ala1319Val)
|
rs2040470204
|
|
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala)
|
rs2141916604
|
|
NM_014714.4(IFT140):c.4022G>C (p.Arg1341Thr)
|
rs1054102092
|
|
NM_014714.4(IFT140):c.4027A>G (p.Ile1343Val)
|
rs771070134
|
|
NM_014714.4(IFT140):c.4040+3G>A
|
|
|
NM_014714.4(IFT140):c.4040+3G>T
|
rs779462689
|
|
NM_014714.4(IFT140):c.4058C>G (p.Pro1353Arg)
|
rs146666187
|
|
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys)
|
rs2035235540
|
|
NM_014714.4(IFT140):c.4077G>T (p.Gln1359His)
|
rs1387346251
|
|
NM_014714.4(IFT140):c.4093G>A (p.Glu1365Lys)
|
|
|
NM_014714.4(IFT140):c.4121G>A (p.Arg1374His)
|
rs778892732
|
|
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val)
|
rs1258339035
|
|
NM_014714.4(IFT140):c.4126G>A (p.Gly1376Arg)
|
|
|
NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
|
|
|
NM_014714.4(IFT140):c.4136A>T (p.Tyr1379Phe)
|
|
|
NM_014714.4(IFT140):c.413T>G (p.Val138Gly)
|
|
|
NM_014714.4(IFT140):c.4145T>A (p.Leu1382Gln)
|
rs1454067964
|
|
NM_014714.4(IFT140):c.4150G>T (p.Glu1384Ter)
|
|
|
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)
|
rs142668269
|
|
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)
|
rs142668269
|
|
NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)
|
|
|
NM_014714.4(IFT140):c.4179G>C (p.Gln1393His)
|
rs2040419700
|
|
NM_014714.4(IFT140):c.4180_4182+12del
|
|
|
NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys)
|
rs2040132765
|
|
NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)
|
|
|
NM_014714.4(IFT140):c.41C>T (p.Ala14Val)
|
rs2036120849
|
|
NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln)
|
rs2040132121
|
|
NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)
|
|
|
NM_014714.4(IFT140):c.4207del (p.Arg1403fs)
|
|
|
NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)
|
|
|
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del)
|
rs754312950
|
|
NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu)
|
rs2141089845
|
|
NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)
|
|
|
NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)
|
|
|
NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr)
|
rs752233693
|
|
NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)
|
|
|
NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)
|
|
|
NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)
|
|
|
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln)
|
rs781658694
|
|
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)
|
rs138697817
|
|
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu)
|
rs886051708
|
|
NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)
|
|
|
NM_014714.4(IFT140):c.4330A>G (p.Met1444Val)
|
rs547804955
|
|
NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)
|
|
|
NM_014714.4(IFT140):c.4341del (p.Arg1448fs)
|
rs1209319873
|
|
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)
|
rs760889117
|
|
NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys)
|
rs1386131080
|
|
NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?)
|
rs2040120370
|
|
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
|
|
|
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
|
|
|
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
|
|
|
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
|
|
|
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
|
|
|
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
|
|
|
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)
|
rs148462329
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser)
|
rs148462329
|
|
NM_014714.4(IFT140):c.482C>A (p.Pro161His)
|
rs191927317
|
|
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu)
|
rs191927317
|
|
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg)
|
rs772378665
|
|
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser)
|
rs975918006
|
|
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg)
|
rs756417017
|
|
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg)
|
rs2035217954
|
|
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg)
|
rs767008075
|
|
NM_014714.4(IFT140):c.583C>A (p.Leu195Met)
|
|
|
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro)
|
rs764851284
|
|
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg)
|
rs2141912122
|
|
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del)
|
|
|
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg)
|
rs2035215270
|
|
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro)
|
rs2141882480
|
|
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala)
|
rs2141882480
|
|
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile)
|
rs146302646
|
|
NM_014714.4(IFT140):c.644A>G (p.His215Arg)
|
|
|
NM_014714.4(IFT140):c.645C>G (p.His215Gln)
|
rs2035078296
|
|
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
|
|
|
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
|
|
|
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
|
|
|
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)
|
rs752659125
|
|
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
|
|
|
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
|
|
|
NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
|
|
|
NM_014714.4(IFT140):c.718_720del (p.Glu240del)
|
|
|
NM_014714.4(IFT140):c.72C>A (p.His24Gln)
|
rs2036118371
|
|
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala)
|
rs1408766601
|
|
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe)
|
rs886051768
|
|
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
|
|
|
NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
|
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
NM_014714.4(IFT140):c.774G>A (p.Thr258=)
|
rs746955795
|
|
NM_014714.4(IFT140):c.775G>A (p.Val259Met)
|
rs1392612759
|
|
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del)
|
rs2035068981
|
|
NM_014714.4(IFT140):c.810+6T>C
|
rs2035068589
|
|
NM_014714.4(IFT140):c.810+9G>T
|
rs886051767
|
|
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
|
|
|
NM_014714.4(IFT140):c.844G>C (p.Asp282His)
|
|
|
NM_014714.4(IFT140):c.849C>G (p.Ile283Met)
|
rs563162000
|
|
NM_014714.4(IFT140):c.864C>T (p.Gly288=)
|
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014714.4(IFT140):c.867C>T (p.Ser289=)
|
rs145858131
|
|
NM_014714.4(IFT140):c.881C>T (p.Ala294Val)
|
rs1452513681
|
|
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
|
|
|
NM_014714.4(IFT140):c.903-5T>A
|
|
|
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
|
|
|
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
|
|
|
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
|
|
|
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp)
|
rs2141852274
|
|
NM_014714.4(IFT140):c.937C>G (p.Leu313Val)
|
rs758052767
|
|
NM_014714.4(IFT140):c.94G>A (p.Val32Ile)
|
rs770234866
|
|
NM_014714.4(IFT140):c.94G>C (p.Val32Leu)
|
|
|
NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
|
|
|
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
|
|
|
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
|
|
|
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
|
|
|
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
|
|
|
NM_014714.4(IFT140):c.989T>C (p.Val330Ala)
|
rs2034932329
|
|
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)
|
|
|
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)
|
|
|
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)
|
|
|
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp)
|
rs202131370
|
|
NM_019023.5(PRMT7):c.-218-3C>G
|
|
|
NM_019023.5(PRMT7):c.1651-8G>A
|
|
|
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His)
|
|
|
NM_019023.5(PRMT7):c.1915T>C (p.Cys639Arg)
|
|
|
NM_019023.5(PRMT7):c.1949A>G (p.Tyr650Cys)
|
rs1033540334
|
|
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn)
|
|
|
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu)
|
|
|
NM_019023.5(PRMT7):c.282+3A>G
|
rs2082913032
|
|
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys)
|
|
|
NM_030957.4(ADAMTS10):c.*157G>A
|
rs2042332746
|
|
NM_030957.4(ADAMTS10):c.*322C>T
|
rs886054708
|
|
NM_030957.4(ADAMTS10):c.*447G>T
|
rs1385837919
|
|
NM_030957.4(ADAMTS10):c.*456del
|
rs34057037
|
|
NM_030957.4(ADAMTS10):c.*456dup
|
rs34057037
|
|
NM_030957.4(ADAMTS10):c.*47A>G
|
rs905913217
|
|
NM_030957.4(ADAMTS10):c.*578C>A
|
rs2042325419
|
|
NM_030957.4(ADAMTS10):c.*81G>C
|
rs886054709
|
|
NM_030957.4(ADAMTS10):c.*81G>T
|
rs886054709
|
|
NM_030957.4(ADAMTS10):c.*85dup
|
rs576948646
|
|
NM_030957.4(ADAMTS10):c.-99-7C>G
|
rs907764817
|
|
NM_030957.4(ADAMTS10):c.1084+6C>T
|
|
|
NM_030957.4(ADAMTS10):c.133A>G (p.Thr45Ala)
|
|
|
NM_030957.4(ADAMTS10):c.146A>G (p.His49Arg)
|
rs1555742346
|
|
NM_030957.4(ADAMTS10):c.1480-4G>T
|
rs368465218
|
|
NM_030957.4(ADAMTS10):c.1520G>A (p.Arg507Gln)
|
|
|
NM_030957.4(ADAMTS10):c.1568C>T (p.Thr523Met)
|
rs782308360
|
|
NM_030957.4(ADAMTS10):c.1655C>G (p.Pro552Arg)
|
rs1216168299
|
|
NM_030957.4(ADAMTS10):c.1659G>C (p.Trp553Cys)
|
|
|
NM_030957.4(ADAMTS10):c.1797+11C>A
|
rs2042533385
|
|
NM_030957.4(ADAMTS10):c.1901-13C>A
|
rs782114199
|
|
NM_030957.4(ADAMTS10):c.198C>T (p.Arg66=)
|
rs149789969
|
|
NM_030957.4(ADAMTS10):c.2005G>T (p.Val669Leu)
|
rs144596955
|
|
NM_030957.4(ADAMTS10):c.2220C>T (p.Asn740=)
|
rs886054713
|
|
NM_030957.4(ADAMTS10):c.2361C>G (p.Ser787Arg)
|
|
|
NM_030957.4(ADAMTS10):c.2404-9T>C
|
rs2042432536
|
|
NM_030957.4(ADAMTS10):c.24C>A (p.Leu8=)
|
rs1555742491
|
|
NM_030957.4(ADAMTS10):c.2530+9G>A
|
rs782625211
|
|
NM_030957.4(ADAMTS10):c.2632G>A (p.Ala878Thr)
|
rs1197418432
|
|
NM_030957.4(ADAMTS10):c.292C>T (p.Leu98=)
|
rs2042706336
|
|
NM_030957.4(ADAMTS10):c.3002G>A (p.Arg1001His)
|
rs2042408557
|
|
NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=)
|
rs886054711
|
|
NM_030957.4(ADAMTS10):c.3202+13C>T
|
rs886054710
|
|
NM_030957.4(ADAMTS10):c.335T>C (p.Leu112Pro)
|
rs782581897
|
|
NM_030957.4(ADAMTS10):c.557G>T (p.Arg186Leu)
|
rs781891774
|
|
NM_030957.4(ADAMTS10):c.629G>A (p.Arg210Gln)
|
|
|
NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg)
|
rs1555741490
|
|
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=)
|
rs782449192
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser)
|
|
|
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)
|
|
|
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly)
|
rs2086410482
|
|
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)
|
|
|
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu)
|
rs747636634
|
|
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
|
|
|
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)
|
|
|
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)
|
|
|
NM_139057.4(ADAMTS17):c.*1011_*1016del
|
rs879713910
|
|
NM_139057.4(ADAMTS17):c.*1014_*1019del
|
rs11277519
|
|
NM_139057.4(ADAMTS17):c.*1016C>T
|
rs886050962
|
|
NM_139057.4(ADAMTS17):c.*1024T>G
|
rs886050961
|
|
NM_139057.4(ADAMTS17):c.*1213G>C
|
rs982642681
|
|
NM_139057.4(ADAMTS17):c.*1218T>C
|
rs886050958
|
|
NM_139057.4(ADAMTS17):c.*1278A>G
|
rs2060245859
|
|
NM_139057.4(ADAMTS17):c.*1431TCC[1]
|
rs757487035
|
|
NM_139057.4(ADAMTS17):c.*1642G>A
|
rs577902130
|
|
NM_139057.4(ADAMTS17):c.*1708G>C
|
rs769909152
|
|
NM_139057.4(ADAMTS17):c.*1759G>C
|
rs539776359
|
|
NM_139057.4(ADAMTS17):c.*1780G>A
|
rs886050957
|
|
NM_139057.4(ADAMTS17):c.*181C>T
|
rs760184660
|
|
NM_139057.4(ADAMTS17):c.*1899del
|
rs138786481
|
|
NM_139057.4(ADAMTS17):c.*2013T>A
|
rs2727194
|
|
NM_139057.4(ADAMTS17):c.*2015T>C
|
rs956479865
|
|
NM_139057.4(ADAMTS17):c.*2142GTT[1]
|
rs886050956
|
|
NM_139057.4(ADAMTS17):c.*2172T>C
|
rs191191512
|
|
NM_139057.4(ADAMTS17):c.*2186T>C
|
rs943727216
|
|
NM_139057.4(ADAMTS17):c.*2196C>T
|
rs528240967
|
|
NM_139057.4(ADAMTS17):c.*221G>A
|
rs1286406738
|
|
NM_139057.4(ADAMTS17):c.*2290C>T
|
rs374783295
|
|
NM_139057.4(ADAMTS17):c.*2292C>T
|
rs371938855
|
|
NM_139057.4(ADAMTS17):c.*2305T>C
|
rs2060219977
|
|
NM_139057.4(ADAMTS17):c.*2355G>C
|
rs564194386
|
|
NM_139057.4(ADAMTS17):c.*2472C>G
|
rs138099553
|
|
NM_139057.4(ADAMTS17):c.*2472C>T
|
rs138099553
|
|
NM_139057.4(ADAMTS17):c.*2501C>T
|
rs2060214433
|
|
NM_139057.4(ADAMTS17):c.*2532G>A
|
rs886050951
|
|
NM_139057.4(ADAMTS17):c.*2600C>T
|
rs2060211133
|
|
NM_139057.4(ADAMTS17):c.*260C>T
|
rs747343009
|
|
NM_139057.4(ADAMTS17):c.*2626_*2628del
|
rs543559051
|
|
NM_139057.4(ADAMTS17):c.*2645C>T
|
rs114391483
|
|
NM_139057.4(ADAMTS17):c.*2652A>T
|
rs994363579
|
|
NM_139057.4(ADAMTS17):c.*2678T>G
|
rs2060208704
|
|
NM_139057.4(ADAMTS17):c.*2738G>C
|
rs535694449
|
|
NM_139057.4(ADAMTS17):c.*290C>A
|
rs1016206521
|
|
NM_139057.4(ADAMTS17):c.*2934G>T
|
rs1241129749
|
|
NM_139057.4(ADAMTS17):c.*293G>A
|
rs886050969
|
|
NM_139057.4(ADAMTS17):c.*376T>G
|
rs2060267332
|
|
NM_139057.4(ADAMTS17):c.*481G>A
|
rs1046788827
|
|
NM_139057.4(ADAMTS17):c.*498A>T
|
rs2573651
|
|
NM_139057.4(ADAMTS17):c.*612G>T
|
rs574728895
|
|
NM_139057.4(ADAMTS17):c.*620T>C
|
rs1164434838
|
|
NM_139057.4(ADAMTS17):c.*857G>A
|
rs552737711
|
|
NM_139057.4(ADAMTS17):c.*901G>A
|
rs962309056
|
|
NM_139057.4(ADAMTS17):c.*963C>T
|
rs563070394
|
|
NM_139057.4(ADAMTS17):c.-19dup
|
rs150933882
|
|
NM_139057.4(ADAMTS17):c.-20G>A
|
rs569251254
|
|
NM_139057.4(ADAMTS17):c.-20G>C
|
rs569251254
|
|
NM_139057.4(ADAMTS17):c.-37C>T
|
rs1419969888
|
|
NM_139057.4(ADAMTS17):c.-62C>A
|
rs886050985
|
|
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg)
|
rs886050975
|
|
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=)
|
rs958960649
|
|
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=)
|
rs767074176
|
|
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=)
|
rs767074176
|
|
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met)
|
rs1244171699
|
|
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg)
|
rs770984984
|
|
NM_139057.4(ADAMTS17):c.1924_1929dup (p.Lys642_Glu643dup)
|
rs533437573
|
|
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His)
|
rs145922030
|
|
NM_139057.4(ADAMTS17):c.1996T>G (p.Cys666Gly)
|
rs2141096474
|
|
NM_139057.4(ADAMTS17):c.2138-13A>G
|
rs2032359159
|
|
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr)
|
rs946108501
|
|
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu)
|
rs886050981
|
|
NM_139057.4(ADAMTS17):c.2295+3A>G
|
|
|
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)
|
rs770794109
|
|
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu)
|
rs144007074
|
|
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg)
|
rs545996605
|
|
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg)
|
rs201676815
|
|
NM_139057.4(ADAMTS17):c.2592-9G>A
|
rs373353462
|
|
NM_139057.4(ADAMTS17):c.2592-9G>T
|
rs373353462
|
|
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro)
|
rs886050974
|
|
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=)
|
rs139105066
|
|
NM_139057.4(ADAMTS17):c.2796+5G>A
|
rs2141345957
|
|
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=)
|
rs886050973
|
|
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys)
|
rs149434438
|
|
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=)
|
rs886050972
|
|
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=)
|
rs141373128
|
|
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=)
|
rs144817994
|
|
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=)
|
rs1426438937
|
|
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=)
|
rs1596563056
|
|
NM_139057.4(ADAMTS17):c.79+3A>C
|
rs2046376517
|
|
NM_139057.4(ADAMTS17):c.80-10C>G
|
rs886050983
|
|
NM_212472.2(PRKAR1A):c.-200T>A
|
rs534001445
|
|
Single allele
|
|
|