NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg)
|
rs10420313
|
0.02947
|
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)
|
rs3730349
|
0.01815
|
NM_002734.5(PRKAR1A):c.*1837G>T
|
rs201999343
|
0.01775
|
NM_030957.4(ADAMTS10):c.-198A>G
|
rs4530289
|
0.01712
|
NM_139057.4(ADAMTS17):c.*474C>T
|
rs117821788
|
0.01156
|
NM_000428.3(LTBP2):c.*2684A>G
|
rs74384554
|
0.01012
|
NM_030957.4(ADAMTS10):c.*171G>A
|
rs79238375
|
0.00991
|
NM_139057.4(ADAMTS17):c.*1946G>T
|
rs77749500
|
0.00956
|
NM_005359.6(SMAD4):c.*1169_*1173del
|
rs138404813
|
0.00832
|
NM_002734.5(PRKAR1A):c.*138C>A
|
rs28730842
|
0.00772
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_014714.4(IFT140):c.*63A>G
|
rs149678731
|
0.00706
|
NM_002734.5(PRKAR1A):c.*759C>T
|
rs62087489
|
0.00683
|
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)
|
rs200876696
|
0.00622
|
NM_139057.4(ADAMTS17):c.*420G>A
|
rs556966662
|
0.00622
|
NM_030957.4(ADAMTS10):c.2403+4A>G
|
rs187565033
|
0.00608
|
NM_139057.4(ADAMTS17):c.*1234G>A
|
rs543905312
|
0.00574
|
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile)
|
rs146689929
|
0.00538
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_000428.3(LTBP2):c.378C>T (p.Pro126=)
|
rs140842900
|
0.00528
|
NM_000428.3(LTBP2):c.*119C>T
|
rs146119949
|
0.00526
|
NM_139057.4(ADAMTS17):c.*880C>T
|
rs187416809
|
0.00515
|
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=)
|
rs61738013
|
0.00500
|
NM_000428.3(LTBP2):c.1399+10G>T
|
rs143528294
|
0.00488
|
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=)
|
rs150468696
|
0.00463
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_030957.4(ADAMTS10):c.2016C>T (p.Cys672=)
|
rs10414102
|
0.00419
|
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys)
|
rs61750006
|
0.00419
|
NM_139057.4(ADAMTS17):c.*1315C>T
|
rs185582795
|
0.00381
|
NM_000428.3(LTBP2):c.3527-3C>A
|
rs138194436
|
0.00364
|
NM_000138.5(FBN1):c.*1298C>G
|
rs143446014
|
0.00360
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_002734.5(PRKAR1A):c.*151A>G
|
rs11540571
|
0.00340
|
NM_139057.4(ADAMTS17):c.*1244C>G
|
rs561561821
|
0.00329
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=)
|
rs117133620
|
0.00307
|
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=)
|
rs150977380
|
0.00305
|
NM_014714.4(IFT140):c.1541T>A (p.Leu514His)
|
rs150903791
|
0.00297
|
NM_014714.4(IFT140):c.1542C>A (p.Leu514=)
|
rs141542834
|
0.00297
|
NM_000428.3(LTBP2):c.450G>T (p.Arg150=)
|
rs111342797
|
0.00290
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_005359.6(SMAD4):c.*4867dup
|
rs571773833
|
0.00286
|
NM_005359.6(SMAD4):c.*2968del
|
rs574286440
|
0.00280
|
NM_139057.4(ADAMTS17):c.*1546G>A
|
rs149694490
|
0.00273
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)
|
rs35301526
|
0.00228
|
NM_014714.4(IFT140):c.3874-11C>T
|
rs199887622
|
0.00220
|
NM_139057.4(ADAMTS17):c.3128-12C>T
|
rs182634994
|
0.00220
|
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=)
|
rs112185875
|
0.00213
|
NM_000428.3(LTBP2):c.*2363A>G
|
rs190461277
|
0.00211
|
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe)
|
rs142353301
|
0.00203
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_014694.4(ADAMTSL2):c.387G>A (p.Thr129=)
|
rs146802900
|
0.00185
|
NM_139057.4(ADAMTS17):c.*1653C>G
|
rs536677830
|
0.00181
|
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=)
|
rs148939974
|
0.00176
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=)
|
rs80088294
|
0.00165
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_139057.4(ADAMTS17):c.*2313T>C
|
rs562633764
|
0.00161
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_014694.4(ADAMTSL2):c.279G>A (p.Thr93=)
|
rs62637570
|
0.00150
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_030957.4(ADAMTS10):c.1588-11C>T
|
rs112970413
|
0.00142
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys)
|
rs143456909
|
0.00121
|
NM_014714.4(IFT140):c.-4C>T
|
rs140403660
|
0.00112
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_139057.4(ADAMTS17):c.*960G>A
|
rs180868548
|
0.00101
|
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)
|
rs143891379
|
0.00100
|
NM_002734.5(PRKAR1A):c.*847A>G
|
rs144299673
|
0.00091
|
NM_014112.5(TRPS1):c.*2537del
|
rs570702506
|
0.00088
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_014714.4(IFT140):c.*403G>A
|
rs143732634
|
0.00078
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_139057.4(ADAMTS17):c.-9C>T
|
rs192272127
|
0.00067
|
NM_139057.4(ADAMTS17):c.*2747T>G
|
rs183457005
|
0.00066
|
NM_030957.4(ADAMTS10):c.1798-6C>T
|
rs186791828
|
0.00064
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_001104631.2(PDE4D):c.*4675G>A
|
rs536451907
|
0.00050
|
NM_014714.4(IFT140):c.491+7G>A
|
rs187521755
|
0.00045
|
NM_000428.3(LTBP2):c.*945T>C
|
rs374130664
|
0.00042
|
NM_014112.5(TRPS1):c.2701-9_2701-8del
|
rs368655299
|
0.00038
|
NM_001104631.1(PDE4D):c.-126A>G
|
rs543720951
|
0.00036
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
NM_000127.3(EXT1):c.-642G>A
|
rs534171475
|
0.00032
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000138.5(FBN1):c.*1720C>T
|
rs557301792
|
0.00029
|
NM_000138.5(FBN1):c.*1949T>C
|
rs534577080
|
0.00026
|
NM_014714.4(IFT140):c.*2G>A
|
rs144879630
|
0.00025
|
NM_000138.5(FBN1):c.*2360C>G
|
rs144404153
|
0.00024
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
NM_000428.3(LTBP2):c.*1427A>G
|
rs187052141
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=)
|
rs74758312
|
0.00023
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_139057.4(ADAMTS17):c.*959C>T
|
rs141144986
|
0.00019
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala)
|
rs202099735
|
0.00016
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln)
|
rs199769798
|
0.00012
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val)
|
rs377513504
|
0.00009
|
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys)
|
rs201384469
|
0.00009
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_139057.4(ADAMTS17):c.3128-6C>T
|
rs148559983
|
0.00006
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=)
|
rs369906474
|
0.00005
|
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr)
|
rs749222606
|
0.00005
|
NM_014694.4(ADAMTSL2):c.310-10C>T
|
rs571169702
|
0.00005
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu)
|
rs201586136
|
0.00004
|
NM_000138.5(FBN1):c.*1619T>A
|
rs374297351
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=)
|
rs753621663
|
0.00003
|
NM_005359.5(SMAD4):c.*6588C>G
|
rs186324049
|
0.00003
|
NM_014714.4(IFT140):c.*429C>T
|
rs192256907
|
0.00003
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp)
|
rs750666346
|
0.00002
|
NM_001104631.2(PDE4D):c.1831-7A>G
|
rs766871489
|
0.00002
|
NM_002734.5(PRKAR1A):c.-6-7C>T
|
rs373646911
|
0.00002
|
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)
|
rs757211048
|
0.00002
|
NM_000138.5(FBN1):c.*1437G>A
|
rs549498511
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_005359.6(SMAD4):c.298A>C (p.Arg100=)
|
rs751154230
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_014112.5(TRPS1):c.-470T>C
|
rs567007790
|
0.00001
|
NM_000138.5(FBN1):c.*1950dup
|
rs535798341
|
|
NM_000138.5(FBN1):c.*960del
|
rs527621676
|
|
NM_000138.5(FBN1):c.-35C>T
|
rs199781948
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_001104631.2(PDE4D):c.*1200T>A
|
rs577495801
|
|
NM_001104631.2(PDE4D):c.*1201A>T
|
rs559220819
|
|
NM_001104631.2(PDE4D):c.*1634_*1635dup
|
rs138187044
|
|
NM_001104631.2(PDE4D):c.*2242_*2243del
|
rs148755437
|
|
NM_001104631.2(PDE4D):c.*496_*500dup
|
rs527630861
|
|
NM_001104631.2(PDE4D):c.*793GTTT[3]
|
rs200995197
|
|
NM_001104631.2(PDE4D):c.1288-8dup
|
rs143090133
|
|
NM_001104631.2(PDE4D):c.758+11C>A
|
rs202215336
|
|
NM_002734.5(PRKAR1A):c.*172_*175del
|
rs201146882
|
|
NM_002734.5(PRKAR1A):c.*1835del
|
rs138320066
|
|
NM_002734.5(PRKAR1A):c.*812A>C
|
rs116996069
|
|
NM_005359.5(SMAD4):c.*6586C>T
|
rs534182161
|
|
NM_005359.6(SMAD4):c.*3878dup
|
rs373831598
|
|
NM_005359.6(SMAD4):c.*4585GA[1]
|
rs374333786
|
|
NM_005359.6(SMAD4):c.*6353del
|
rs573785159
|
|
NM_014112.5(TRPS1):c.*5300_*5303del
|
rs564851438
|
|
NM_014694.4(ADAMTSL2):c.-212dup
|
rs539826426
|
|
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup
|
rs138501563
|
|
NM_030957.4(ADAMTS10):c.*238dup
|
rs151216219
|
|
NM_139057.4(ADAMTS17):c.*172_*174del
|
rs137961566
|
|
NM_139057.4(ADAMTS17):c.*19G>A
|
rs201992797
|
|
NM_139057.4(ADAMTS17):c.*2157AG[1]
|
rs144918924
|
|
NM_139057.4(ADAMTS17):c.*2228G>C
|
rs541793251
|
|
NM_139057.4(ADAMTS17):c.*2354C>G
|
rs8036076
|
|
NM_139057.4(ADAMTS17):c.*2605G>C
|
rs191759654
|
|
NM_139057.4(ADAMTS17):c.*2637C>G
|
rs529849561
|
|
NM_139057.4(ADAMTS17):c.*882G>T
|
rs2581358
|
|
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=)
|
rs559102316
|
|