NM_000138.5(FBN1):c.*730G>T
|
rs13598
|
0.89602
|
NM_014694.4(ADAMTSL2):c.683-12T>G
|
rs9802778
|
0.85656
|
NM_014694.4(ADAMTSL2):c.840A>T (p.Ala280=)
|
rs2073875
|
0.85265
|
NM_014694.4(ADAMTSL2):c.774C>T (p.Asp258=)
|
rs2073874
|
0.85257
|
NM_014694.4(ADAMTSL2):c.859A>C (p.Arg287=)
|
rs2073876
|
0.85254
|
NM_014694.4(ADAMTSL2):c.939+11C>T
|
rs2073878
|
0.85229
|
NM_001104631.2(PDE4D):c.1287+6G>A
|
rs1553114
|
0.81559
|
NM_030957.4(ADAMTS10):c.401= (p.Ser134=)
|
rs7255721
|
0.79500
|
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=)
|
rs4369638
|
0.75672
|
NM_000138.5(FBN1):c.*2158G>A
|
rs11070641
|
0.75090
|
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser)
|
rs2573652
|
0.70543
|
NM_139057.4(ADAMTS17):c.*510C>T
|
rs2573650
|
0.69021
|
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=)
|
rs4965613
|
0.68304
|
NM_000138.5(FBN1):c.*1575T>G
|
rs4775760
|
0.68134
|
NM_001104631.2(PDE4D):c.*2934G>A
|
rs702530
|
0.65587
|
NM_001104631.2(PDE4D):c.*4001C>G
|
rs829258
|
0.65535
|
NM_139057.4(ADAMTS17):c.*46C>G
|
rs2581340
|
0.65342
|
NM_139057.4(ADAMTS17):c.*113A>G
|
rs2581341
|
0.64262
|
NM_139057.4(ADAMTS17):c.*316T>C
|
rs2581345
|
0.64086
|
NM_139057.4(ADAMTS17):c.*1083A>G
|
rs2581362
|
0.64072
|
NM_139057.4(ADAMTS17):c.*1078G>A
|
rs2727196
|
0.64049
|
NM_139057.4(ADAMTS17):c.*399_*412dup
|
rs71151926
|
0.64020
|
NM_139057.4(ADAMTS17):c.*544G>A
|
rs2581348
|
0.64018
|
NM_139057.4(ADAMTS17):c.*1289T>G
|
rs2581365
|
0.63990
|
NM_139057.4(ADAMTS17):c.*1243C>T
|
rs2581363
|
0.63825
|
NM_000138.5(FBN1):c.*314C>T
|
rs1042078
|
0.63415
|
NM_139057.4(ADAMTS17):c.*885A>G
|
rs2727198
|
0.62345
|
NM_139057.4(ADAMTS17):c.*1449G>A
|
rs2573625
|
0.61872
|
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.61566
|
NM_139057.4(ADAMTS17):c.*1490C>T
|
rs2727195
|
0.61407
|
NM_014694.4(ADAMTSL2):c.*158G>A
|
rs1105952
|
0.60421
|
NM_139057.4(ADAMTS17):c.*190G>A
|
rs2727199
|
0.58955
|
NM_139057.4(ADAMTS17):c.*900T>C
|
rs2581359
|
0.58766
|
NM_001104631.2(PDE4D):c.*2515A>T
|
rs829259
|
0.58301
|
NM_139057.4(ADAMTS17):c.*189G>C
|
rs2581343
|
0.57417
|
NM_139057.4(ADAMTS17):c.*2528T>C
|
rs8037666
|
0.46516
|
NM_014714.4(IFT140):c.-17G>C
|
rs1894649
|
0.44364
|
NM_014714.4(IFT140):c.1968T>C (p.Ser656=)
|
rs8048410
|
0.42981
|
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=)
|
rs7496640
|
0.40719
|
NM_139057.4(ADAMTS17):c.*82G>A
|
rs3825894
|
0.39172
|
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu)
|
rs7496668
|
0.39054
|
NM_139057.4(ADAMTS17):c.*2560T>C
|
rs10468183
|
0.37771
|
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)
|
rs699374
|
0.35704
|
NM_000428.3(LTBP2):c.*824C>T
|
rs7569
|
0.34968
|
NM_014714.4(IFT140):c.*59T>C
|
rs1053730
|
0.34440
|
NM_139057.4(ADAMTS17):c.2591+6A>G
|
rs8028251
|
0.30715
|
NM_139057.4(ADAMTS17):c.789+8C>T
|
rs7496614
|
0.30495
|
NM_014714.4(IFT140):c.2253T>C (p.Pro751=)
|
rs2076436
|
0.30184
|
NM_000428.3(LTBP2):c.*1818C>T
|
rs1052939
|
0.26277
|
NM_139057.4(ADAMTS17):c.2138-12C>T
|
rs28529328
|
0.25319
|
NM_000138.5(FBN1):c.1875T>C (p.Asn625=)
|
rs25458
|
0.25074
|
NM_139057.4(ADAMTS17):c.*1779T>C
|
rs12440706
|
0.24902
|
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile)
|
rs35767802
|
0.24762
|
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=)
|
rs4476282
|
0.23173
|
NM_002734.5(PRKAR1A):c.*1244T>C
|
rs9925
|
0.22809
|
NM_002734.5(PRKAR1A):c.*1777C>T
|
rs7977
|
0.22564
|
NM_005359.6(SMAD4):c.*5131A>G
|
rs12456284
|
0.19420
|
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)
|
rs2235640
|
0.19119
|
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=)
|
rs4965583
|
0.18423
|
NM_014714.4(IFT140):c.635-12G>C
|
rs12447357
|
0.18304
|
NM_000138.5(FBN1):c.3464-5G>A
|
rs11853943
|
0.16287
|
NM_001104631.2(PDE4D):c.*4039G>T
|
rs10071088
|
0.16172
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.16167
|
NM_001104631.2(PDE4D):c.*5118T>G
|
rs11959349
|
0.16159
|
NM_001104631.2(PDE4D):c.*1638G>A
|
rs10075508
|
0.16154
|
NM_001104631.2(PDE4D):c.*4915C>T
|
rs13160982
|
0.16152
|
NM_001104631.2(PDE4D):c.*4965G>T
|
rs11956001
|
0.16146
|
NM_001104631.2(PDE4D):c.*1938C>T
|
rs10940636
|
0.16145
|
NM_001104631.2(PDE4D):c.*5260T>C
|
rs11950492
|
0.16137
|
NM_001104631.2(PDE4D):c.*2279G>T
|
rs12658211
|
0.16082
|
NM_001104631.2(PDE4D):c.*2288A>G
|
rs10036063
|
0.16069
|
NM_001104631.2(PDE4D):c.*2484T>C
|
rs10035437
|
0.16055
|
NM_001104631.2(PDE4D):c.*2653del
|
rs138669344
|
0.15668
|
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr)
|
rs28567966
|
0.15651
|
NM_002734.5(PRKAR1A):c.*870G>A
|
rs8082254
|
0.14031
|
NM_002734.5(PRKAR1A):c.*1212T>G
|
rs8905
|
0.13021
|
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.900C>T (p.Ile300=)
|
rs2073877
|
0.10895
|
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=)
|
rs61752832
|
0.08618
|
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)
|
rs34762152
|
0.08326
|
NM_139057.4(ADAMTS17):c.*2283A>G
|
rs8025962
|
0.08276
|
NM_005359.6(SMAD4):c.*5535A>G
|
rs75712226
|
0.07867
|
NM_139057.4(ADAMTS17):c.*2701G>C
|
rs13329612
|
0.07318
|
NM_014694.4(ADAMTSL2):c.2436C>T (p.Arg812=)
|
rs61733946
|
0.07271
|
NM_001104631.2(PDE4D):c.*5241T>C
|
rs11950495
|
0.07267
|
NM_001104631.2(PDE4D):c.*4886A>C
|
rs17291089
|
0.07219
|
NM_030957.4(ADAMTS10):c.*428A>G
|
rs116024095
|
0.07160
|
NM_014694.4(ADAMTSL2):c.*376G>A
|
rs113048552
|
0.07135
|
NM_005359.6(SMAD4):c.*5547A>G
|
rs11662245
|
0.07079
|
NM_000138.5(FBN1):c.156G>T (p.Ala52=)
|
rs25398
|
0.06859
|
NM_000428.3(LTBP2):c.-232G>A
|
rs61980926
|
0.06690
|
NM_139057.4(ADAMTS17):c.*2541A>G
|
rs8041971
|
0.06591
|
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=)
|
rs61738025
|
0.06415
|
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln)
|
rs2304707
|
0.06364
|
NM_014694.4(ADAMTSL2):c.*217G>T
|
rs111717891
|
0.06104
|
NM_139057.4(ADAMTS17):c.*486G>A
|
rs117381111
|
0.06056
|
NM_000138.4(FBN1):c.-388C>T
|
rs3825792
|
0.06008
|
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln)
|
rs11648609
|
0.05163
|
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)
|
rs2235638
|
0.05119
|
NM_005359.6(SMAD4):c.*6423G>C
|
rs2282544
|
0.04514
|
NM_000428.3(LTBP2):c.*1873C>G
|
rs77847288
|
0.04063
|
NM_139057.4(ADAMTS17):c.*2007G>A
|
rs8041901
|
0.04026
|
NM_001104631.2(PDE4D):c.*4660C>T
|
rs79996648
|
0.03708
|
NM_001104631.2(PDE4D):c.*4659T>G
|
rs75820400
|
0.03706
|
NM_139057.4(ADAMTS17):c.*2183G>A
|
rs148789222
|
0.03651
|
NM_000428.3(LTBP2):c.2788+13C>T
|
rs78258030
|
0.03459
|
NM_005359.6(SMAD4):c.*685A>C
|
rs16952798
|
0.03369
|
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=)
|
rs10405956
|
0.03322
|
NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser)
|
rs10418929
|
0.03247
|
NM_000428.3(LTBP2):c.*1957A>G
|
rs73296215
|
0.03184
|
NM_000138.5(FBN1):c.*2040T>C
|
rs73390272
|
0.03120
|
NM_000138.5(FBN1):c.*1959G>A
|
rs12050562
|
0.03119
|
NM_139057.4(ADAMTS17):c.*439G>A
|
rs140255903
|
0.03019
|
NM_014694.4(ADAMTSL2):c.2325C>G (p.Ser775=)
|
rs2301606
|
0.03001
|
NM_001104631.2(PDE4D):c.*2329G>A
|
rs74710642
|
0.02975
|
NM_030957.4(ADAMTS10):c.1900+11G>C
|
rs78421590
|
0.02958
|
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln)
|
rs62621197
|
0.02952
|
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg)
|
rs10420313
|
0.02947
|
NM_005359.6(SMAD4):c.*1179T>C
|
rs10470
|
0.02819
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val)
|
rs8060532
|
0.02699
|
NM_139057.4(ADAMTS17):c.*700G>A
|
rs60022871
|
0.02686
|
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn)
|
rs8050974
|
0.02675
|
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=)
|
rs7145480
|
0.02571
|
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=)
|
rs45473602
|
0.02563
|
NM_030957.4(ADAMTS10):c.1588-7C>G
|
rs11882422
|
0.02550
|
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=)
|
rs78682885
|
0.02540
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_014714.4(IFT140):c.492-14G>A
|
rs75359189
|
0.02409
|
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn)
|
rs61742753
|
0.02347
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_014694.4(ADAMTSL2):c.2416-9C>T
|
rs111906016
|
0.02249
|
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=)
|
rs61749517
|
0.02245
|
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln)
|
rs35404373
|
0.02210
|
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser)
|
rs34900355
|
0.02198
|
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=)
|
rs2079631
|
0.02179
|
NM_001104631.2(PDE4D):c.*1773A>G
|
rs829260
|
0.02156
|
NM_001104631.2(PDE4D):c.1452+8T>C
|
rs78773396
|
0.02142
|
NM_000428.3(LTBP2):c.*2153T>C
|
rs113879332
|
0.02134
|
NM_001104631.2(PDE4D):c.*5125C>T
|
rs829257
|
0.02116
|
NM_000138.5(FBN1):c.*57A>G
|
rs363849
|
0.01992
|
NM_014694.4(ADAMTSL2):c.2049C>T (p.Pro683=)
|
rs886063644
|
0.01990
|
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp)
|
rs8058674
|
0.01985
|
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=)
|
rs61738017
|
0.01972
|
NM_014714.4(IFT140):c.2454C>T (p.Asp818=)
|
rs34668993
|
0.01885
|
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)
|
rs3730349
|
0.01815
|
NM_002734.5(PRKAR1A):c.*1837G>T
|
rs201999343
|
0.01775
|
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser)
|
rs752071055
|
0.01748
|
NM_030957.4(ADAMTS10):c.-198A>G
|
rs4530289
|
0.01712
|
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr)
|
rs79494390
|
0.01709
|
NM_000428.3(LTBP2):c.1021+14G>A
|
rs150408645
|
0.01681
|
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=)
|
rs61736977
|
0.01652
|
NM_139057.4(ADAMTS17):c.*2324G>A
|
rs8041395
|
0.01632
|
NM_005359.6(SMAD4):c.*5553A>G
|
rs867342943
|
0.01606
|
NM_000428.3(LTBP2):c.*2463G>T
|
rs10141546
|
0.01598
|
NM_001104631.2(PDE4D):c.2427G>A (p.Thr809=)
|
rs7736186
|
0.01589
|
NM_005359.6(SMAD4):c.*5534C>G
|
rs923444877
|
0.01573
|
NM_139057.4(ADAMTS17):c.*1729G>A
|
rs58739070
|
0.01571
|
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=)
|
rs61752831
|
0.01571
|
NM_139057.4(ADAMTS17):c.*1774C>T
|
rs74037056
|
0.01566
|
NM_005359.6(SMAD4):c.*5170C>T
|
rs117142232
|
0.01554
|
NM_000428.3(LTBP2):c.*2044G>A
|
rs73296214
|
0.01534
|
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser)
|
rs61505039
|
0.01509
|
NM_001104631.2(PDE4D):c.*1850T>C
|
rs77207456
|
0.01493
|
NM_005359.6(SMAD4):c.*5083G>A
|
rs145596898
|
0.01488
|
NM_005359.6(SMAD4):c.*5555A>G
|
rs1047967021
|
0.01458
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_001104631.2(PDE4D):c.*2066T>C
|
rs73758090
|
0.01394
|
NM_000428.3(LTBP2):c.915G>A (p.Thr305=)
|
rs60337900
|
0.01390
|
NM_139057.4(ADAMTS17):c.*2227G>A
|
rs8041553
|
0.01381
|
NM_000138.5(FBN1):c.*1989C>T
|
rs56194244
|
0.01330
|
NM_030957.4(ADAMTS10):c.*449G>C
|
rs555471852
|
0.01330
|
NM_000138.5(FBN1):c.*1368A>G
|
rs77212138
|
0.01328
|
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala)
|
rs140598
|
0.01315
|
NM_139057.4(ADAMTS17):c.*2079C>T
|
rs75041141
|
0.01313
|
NM_014694.4(ADAMTSL2):c.*595G>A
|
rs538282848
|
0.01292
|
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)
|
rs34535263
|
0.01269
|
NM_139057.4(ADAMTS17):c.*2012C>T
|
rs190592619
|
0.01261
|
NM_014694.4(ADAMTSL2):c.*252C>T
|
rs112953345
|
0.01241
|
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=)
|
rs75734496
|
0.01217
|
NM_005359.6(SMAD4):c.*5545G>A
|
rs752846586
|
0.01214
|
NM_139057.4(ADAMTS17):c.*1944G>A
|
rs116429760
|
0.01213
|
NM_001104631.2(PDE4D):c.456-12C>T
|
rs114278541
|
0.01159
|
NM_139057.4(ADAMTS17):c.*474C>T
|
rs117821788
|
0.01156
|
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)
|
rs61745103
|
0.01137
|
NM_005359.6(SMAD4):c.*2122A>G
|
rs149424787
|
0.01125
|
NM_139057.4(ADAMTS17):c.*1706G>A
|
rs117744474
|
0.01078
|
NM_139057.4(ADAMTS17):c.*2578G>A
|
rs183671964
|
0.01077
|
NM_139057.4(ADAMTS17):c.*2722G>A
|
rs116467016
|
0.01067
|
NM_014694.4(ADAMTSL2):c.*424G>T
|
rs1036483978
|
0.01060
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_139057.4(ADAMTS17):c.*989G>A
|
rs57279107
|
0.01034
|
NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=)
|
rs368922820
|
0.01033
|
NM_000428.3(LTBP2):c.*2684A>G
|
rs74384554
|
0.01012
|
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=)
|
rs369962641
|
0.01009
|
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=)
|
rs34558152
|
0.00994
|
NM_030957.4(ADAMTS10):c.*171G>A
|
rs79238375
|
0.00991
|
NM_139057.4(ADAMTS17):c.*743G>A
|
rs74036641
|
0.00963
|
NM_139057.4(ADAMTS17):c.*1946G>T
|
rs77749500
|
0.00956
|
NM_139057.4(ADAMTS17):c.*2352C>G
|
rs138578029
|
0.00953
|
NM_139057.4(ADAMTS17):c.*116T>C
|
rs143850369
|
0.00911
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr)
|
rs61754841
|
0.00851
|
NM_014694.4(ADAMTSL2):c.*287C>A
|
rs868340954
|
0.00843
|
NM_005359.6(SMAD4):c.*6513C>T
|
rs76020793
|
0.00838
|
NM_005359.6(SMAD4):c.*1169_*1173del
|
rs138404813
|
0.00832
|
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)
|
rs137854857
|
0.00812
|
NM_014694.4(ADAMTSL2):c.2089-4C>A
|
rs368200205
|
0.00799
|
NM_000138.5(FBN1):c.*867G>T
|
rs189749406
|
0.00798
|
NM_014694.4(ADAMTSL2):c.1815C>T (p.Asp605=)
|
rs369366346
|
0.00796
|
NM_002734.5(PRKAR1A):c.*138C>A
|
rs28730842
|
0.00772
|
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala)
|
rs139932140
|
0.00769
|
NM_014694.4(ADAMTSL2):c.1557C>T (p.Ser519=)
|
rs62637565
|
0.00763
|
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=)
|
rs115093676
|
0.00762
|
NM_030957.4(ADAMTS10):c.*259G>A
|
rs74498506
|
0.00739
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_139057.4(ADAMTS17):c.*1565G>C
|
rs60803373
|
0.00732
|
NM_014714.4(IFT140):c.*63A>G
|
rs149678731
|
0.00706
|
NM_139057.4(ADAMTS17):c.*1992G>A
|
rs114383018
|
0.00697
|
NM_014714.4(IFT140):c.322G>A (p.Val108Met)
|
rs146128830
|
0.00695
|
NM_002734.5(PRKAR1A):c.*759C>T
|
rs62087489
|
0.00683
|
NM_001104631.2(PDE4D):c.*4398T>G
|
rs74874819
|
0.00664
|
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser)
|
rs80046653
|
0.00659
|
NM_000138.5(FBN1):c.*2153A>G
|
rs116443051
|
0.00654
|
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=)
|
rs61729544
|
0.00645
|
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)
|
rs200876696
|
0.00622
|
NM_139057.4(ADAMTS17):c.*420G>A
|
rs556966662
|
0.00622
|
NM_005359.6(SMAD4):c.*5549A>G
|
rs777856072
|
0.00617
|
NM_014714.4(IFT140):c.2550C>T (p.Ala850=)
|
rs2745180
|
0.00615
|
NM_030957.4(ADAMTS10):c.2403+4A>G
|
rs187565033
|
0.00608
|
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=)
|
rs141318496
|
0.00600
|
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=)
|
rs149373184
|
0.00592
|
NM_139057.4(ADAMTS17):c.*1234G>A
|
rs543905312
|
0.00574
|
NM_139057.4(ADAMTS17):c.2591+14T>G
|
rs75585294
|
0.00566
|
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=)
|
rs886050982
|
0.00563
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_139057.4(ADAMTS17):c.*2453C>T
|
rs141023547
|
0.00558
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn)
|
rs73474408
|
0.00554
|
NM_014714.4(IFT140):c.1524+3A>G
|
rs149791451
|
0.00552
|
NM_005359.6(SMAD4):c.*5557A>G
|
rs1414914656
|
0.00550
|
NM_000138.5(FBN1):c.1029G>A (p.Gly343=)
|
rs75655780
|
0.00545
|
NM_002734.5(PRKAR1A):c.*795G>T
|
rs150031305
|
0.00544
|
NM_014714.4(IFT140):c.4040+10C>T
|
rs138364426
|
0.00542
|
NM_001104631.2(PDE4D):c.1692A>G (p.Lys564=)
|
rs115807337
|
0.00540
|
NM_005359.6(SMAD4):c.*11C>T
|
rs11663402
|
0.00538
|
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_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
NM_005359.6(SMAD4):c.*3398A>G
|
rs182735651
|
0.00515
|
NM_139057.4(ADAMTS17):c.*880C>T
|
rs187416809
|
0.00515
|
NM_030957.4(ADAMTS10):c.2865+11C>A
|
rs367808475
|
0.00505
|
NM_000138.5(FBN1):c.*1580G>A
|
rs17352989
|
0.00504
|
NM_005359.6(SMAD4):c.*3662C>T
|
rs114852346
|
0.00503
|
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=)
|
rs61738013
|
0.00500
|
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=)
|
rs149587738
|
0.00497
|
NM_000428.3(LTBP2):c.1399+10G>T
|
rs143528294
|
0.00488
|
NM_000138.5(FBN1):c.*2674T>A
|
rs142196699
|
0.00484
|
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln)
|
rs3814291
|
0.00472
|
NM_005359.6(SMAD4):c.*5578G>C
|
rs867684157
|
0.00469
|
NM_000138.5(FBN1):c.*1084T>C
|
rs3803350
|
0.00464
|
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=)
|
rs150468696
|
0.00463
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_005359.6(SMAD4):c.*1820T>G
|
rs141309481
|
0.00426
|
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_002734.5(PRKAR1A):c.204G>A (p.Leu68=)
|
rs74863634
|
0.00405
|
NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=)
|
rs139761152
|
0.00397
|
NM_030957.4(ADAMTS10):c.*20G>A
|
rs137928083
|
0.00385
|
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=)
|
rs140384823
|
0.00385
|
NM_139057.4(ADAMTS17):c.*1315C>T
|
rs185582795
|
0.00381
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_000428.3(LTBP2):c.3527-3C>A
|
rs138194436
|
0.00364
|
NM_000138.5(FBN1):c.*1298C>G
|
rs143446014
|
0.00360
|
NM_139057.4(ADAMTS17):c.*1448C>T
|
rs188903672
|
0.00353
|
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)
|
rs146172074
|
0.00344
|
NM_002734.5(PRKAR1A):c.*151A>G
|
rs11540571
|
0.00340
|
NM_014694.4(ADAMTSL2):c.*483A>C
|
rs1050057510
|
0.00338
|
NM_005359.6(SMAD4):c.*5551A>G
|
rs202140561
|
0.00329
|
NM_139057.4(ADAMTS17):c.*1244C>G
|
rs561561821
|
0.00329
|
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=)
|
rs375900400
|
0.00324
|
NM_000428.3(LTBP2):c.*705C>T
|
rs41307092
|
0.00320
|
NM_005359.6(SMAD4):c.*5259A>T
|
rs139414609
|
0.00320
|
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_014694.4(ADAMTSL2):c.2007C>T (p.Ala669=)
|
rs372073271
|
0.00293
|
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_001104631.2(PDE4D):c.*2100C>T
|
rs577109679
|
0.00280
|
NM_005359.6(SMAD4):c.*2968del
|
rs574286440
|
0.00280
|
NM_005359.6(SMAD4):c.*2796G>T
|
rs4939651
|
0.00278
|
NM_005359.6(SMAD4):c.*5419T>C
|
rs146551171
|
0.00277
|
NM_001104631.2(PDE4D):c.*1323A>T
|
rs149834563
|
0.00275
|
NM_139057.4(ADAMTS17):c.*1546G>A
|
rs149694490
|
0.00273
|
NM_005359.6(SMAD4):c.455-6A>G
|
rs181178864
|
0.00269
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_000138.5(FBN1):c.*2524A>G
|
rs75372203
|
0.00254
|
NM_001104631.2(PDE4D):c.*3214T>A
|
rs188938118
|
0.00251
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly)
|
rs201787294
|
0.00237
|
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg)
|
rs137995818
|
0.00236
|
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_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_014694.4(ADAMTSL2):c.*610G>A
|
rs746098742
|
0.00228
|
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)
|
rs35301526
|
0.00228
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
NM_014714.4(IFT140):c.3874-11C>T
|
rs199887622
|
0.00220
|
NM_139057.4(ADAMTS17):c.3128-12C>T
|
rs182634994
|
0.00220
|
NM_000428.3(LTBP2):c.807C>T (p.Pro269=)
|
rs61738024
|
0.00219
|
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=)
|
rs112185875
|
0.00213
|
NM_000428.3(LTBP2):c.*2363A>G
|
rs190461277
|
0.00211
|
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)
|
rs146934810
|
0.00209
|
NM_005359.6(SMAD4):c.*2989A>G
|
rs139526377
|
0.00208
|
NM_000138.5(FBN1):c.*1245C>T
|
rs181099623
|
0.00207
|
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe)
|
rs142353301
|
0.00203
|
NM_001104631.2(PDE4D):c.*2653C>T
|
rs13172038
|
0.00201
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=)
|
rs149953380
|
0.00193
|
NM_001104631.2(PDE4D):c.-58G>T
|
rs561124800
|
0.00188
|
NM_014694.4(ADAMTSL2):c.387G>A (p.Thr129=)
|
rs146802900
|
0.00185
|
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=)
|
rs61757472
|
0.00183
|
NM_139057.4(ADAMTS17):c.*1653C>G
|
rs536677830
|
0.00181
|
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg)
|
rs76172717
|
0.00180
|
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.1767T>C (p.His589=)
|
rs148939974
|
0.00176
|
NM_005359.6(SMAD4):c.*4748C>T
|
rs375580807
|
0.00175
|
NM_139057.4(ADAMTS17):c.*1766G>A
|
rs139353567
|
0.00171
|
NM_005359.6(SMAD4):c.*2488T>A
|
rs148190627
|
0.00169
|
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_001104631.2(PDE4D):c.*2747G>A
|
rs557226166
|
0.00156
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_014694.4(ADAMTSL2):c.279G>A (p.Thr93=)
|
rs62637570
|
0.00150
|
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met)
|
rs117800773
|
0.00149
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_001104631.2(PDE4D):c.*5304C>T
|
rs142429682
|
0.00148
|
NM_002734.5(PRKAR1A):c.*2844A>C
|
rs144560276
|
0.00147
|
NM_000138.5(FBN1):c.-176A>T
|
rs560004254
|
0.00145
|
NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln)
|
rs553955759
|
0.00145
|
NM_030957.4(ADAMTS10):c.1588-11C>T
|
rs112970413
|
0.00142
|
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_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln)
|
rs116914994
|
0.00133
|
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=)
|
rs142320702
|
0.00133
|
NM_001104631.2(PDE4D):c.*2510C>T
|
rs576580458
|
0.00131
|
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile)
|
rs145897018
|
0.00129
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
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_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys)
|
rs143456909
|
0.00121
|
NM_001104631.2(PDE4D):c.*2336T>G
|
rs548172452
|
0.00120
|
NM_014714.4(IFT140):c.546C>T (p.Asp182=)
|
rs150014480
|
0.00120
|
NM_001104631.2(PDE4D):c.*1637C>T
|
rs190993206
|
0.00117
|
NM_001104631.2(PDE4D):c.*4622G>T
|
rs532407753
|
0.00115
|
NM_014694.4(ADAMTSL2):c.2592+13C>T
|
rs562213175
|
0.00115
|
NM_014714.4(IFT140):c.-4C>T
|
rs140403660
|
0.00112
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000428.3(LTBP2):c.-55G>A
|
rs571506111
|
0.00109
|
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met)
|
rs202189990
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.*2045G>A
|
rs372254135
|
0.00106
|
NM_030957.4(ADAMTS10):c.1901-11G>A
|
rs117220199
|
0.00106
|
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.*960G>A
|
rs180868548
|
0.00101
|
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)
|
rs143891379
|
0.00100
|
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_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_002734.5(PRKAR1A):c.*847A>G
|
rs144299673
|
0.00091
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_014112.5(TRPS1):c.*2537del
|
rs570702506
|
0.00088
|
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_002734.5(PRKAR1A):c.*1057G>A
|
rs373618236
|
0.00085
|
NM_139057.4(ADAMTS17):c.*2279G>A
|
rs529729790
|
0.00083
|
NM_139057.4(ADAMTS17):c.*671C>T
|
rs76681073
|
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_139057.4(ADAMTS17):c.*1859C>T
|
rs79741636
|
0.00080
|
NM_014714.4(IFT140):c.1788T>C (p.Asp596=)
|
rs148904634
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_001104631.2(PDE4D):c.*3349T>A
|
rs72764043
|
0.00078
|
NM_014714.4(IFT140):c.*403G>A
|
rs143732634
|
0.00078
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala)
|
rs946108501
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_005359.6(SMAD4):c.*2914C>T
|
rs147352474
|
0.00075
|
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=)
|
rs139059770
|
0.00075
|
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=)
|
rs12586758
|
0.00074
|
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_001104631.2(PDE4D):c.*831A>C
|
rs369129936
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His)
|
rs144166844
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_005359.6(SMAD4):c.*6009G>C
|
rs181250637
|
0.00070
|
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_139057.4(ADAMTS17):c.-9C>T
|
rs192272127
|
0.00067
|
NM_139057.4(ADAMTS17):c.*2747T>G
|
rs183457005
|
0.00066
|
NM_000138.5(FBN1):c.*779C>T
|
rs113200355
|
0.00064
|
NM_005359.6(SMAD4):c.*202A>G
|
rs765823244
|
0.00064
|
NM_030957.4(ADAMTS10):c.1798-6C>T
|
rs186791828
|
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_005359.6(SMAD4):c.*2361A>G
|
rs143842829
|
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_014694.4(ADAMTSL2):c.*496C>T
|
rs865954704
|
0.00056
|
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro)
|
rs140930935
|
0.00056
|
NM_005359.6(SMAD4):c.*5627G>A
|
rs185010226
|
0.00055
|
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu)
|
rs147286623
|
0.00055
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
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_001104631.2(PDE4D):c.891G>A (p.Arg297=)
|
rs369034280
|
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_001104631.2(PDE4D):c.339G>A (p.Glu113=)
|
rs370095823
|
0.00052
|
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_001104631.2(PDE4D):c.*4675G>A
|
rs536451907
|
0.00050
|
NM_005359.6(SMAD4):c.*4378T>G
|
rs540039847
|
0.00050
|
NM_005359.6(SMAD4):c.*5541G>A
|
rs1025975410
|
0.00050
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
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_005359.6(SMAD4):c.*6492A>T
|
rs569819237
|
0.00049
|
NM_014714.4(IFT140):c.1593G>T (p.Gly531=)
|
rs143491016
|
0.00048
|
NM_005359.6(SMAD4):c.*6522C>T
|
rs183472455
|
0.00047
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
NM_005359.6(SMAD4):c.*4862A>G
|
rs139595540
|
0.00045
|
NM_014714.4(IFT140):c.491+7G>A
|
rs187521755
|
0.00045
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
NM_002734.5(PRKAR1A):c.-53C>T
|
rs886053304
|
0.00044
|
NM_030957.4(ADAMTS10):c.1265C>T (p.Ala422Val)
|
rs138620046
|
0.00044
|
NM_000138.5(FBN1):c.*43A>T
|
rs144710695
|
0.00043
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
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_000428.3(LTBP2):c.*945T>C
|
rs374130664
|
0.00042
|
NM_014694.4(ADAMTSL2):c.*622C>G
|
rs886063655
|
0.00042
|
NM_001104631.2(PDE4D):c.*403G>A
|
rs752738157
|
0.00041
|
NM_014694.4(ADAMTSL2):c.1911C>T (p.Thr637=)
|
rs891412360
|
0.00040
|
NM_014714.4(IFT140):c.*235C>A
|
rs184405274
|
0.00040
|
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys)
|
rs143689354
|
0.00039
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000428.3(LTBP2):c.*229C>T
|
rs141989493
|
0.00038
|
NM_014112.5(TRPS1):c.2701-9_2701-8del
|
rs368655299
|
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_001104631.1(PDE4D):c.-126A>G
|
rs543720951
|
0.00036
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
NM_005359.6(SMAD4):c.*4066C>T
|
rs772166247
|
0.00036
|
NM_005359.6(SMAD4):c.*412A>G
|
rs28403611
|
0.00036
|
NM_139057.4(ADAMTS17):c.*692G>C
|
rs187035332
|
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_000138.5(FBN1):c.*2395G>A
|
rs184719603
|
0.00035
|
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_005359.6(SMAD4):c.1392C>T (p.Ala464=)
|
rs140487104
|
0.00033
|
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)
|
rs143896591
|
0.00033
|
NM_000127.3(EXT1):c.-642G>A
|
rs534171475
|
0.00032
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
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_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
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_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
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.2175T>C (p.Asn725=)
|
rs140606
|
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.*425C>A
|
rs574877864
|
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_001104631.2(PDE4D):c.*3588A>C
|
rs547764520
|
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_002734.5(PRKAR1A):c.678C>T (p.Ile226=)
|
rs200592054
|
0.00026
|
NM_005359.6(SMAD4):c.*1659C>A
|
rs574896468
|
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_014714.4(IFT140):c.*2G>A
|
rs144879630
|
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_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_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_139057.4(ADAMTS17):c.*4G>A
|
rs200989311
|
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_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_014694.4(ADAMTSL2):c.1113C>T (p.Tyr371=)
|
rs1044402763
|
0.00022
|
NM_030957.4(ADAMTS10):c.-99-3C>T
|
rs1047616409
|
0.00022
|
NM_139057.4(ADAMTS17):c.*419C>T
|
rs1038576369
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
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_005359.6(SMAD4):c.*5801T>C
|
rs577928234
|
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.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.79G>A (p.Ala27Thr)
|
rs25397
|
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.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.*959C>T
|
rs141144986
|
0.00019
|
NM_139057.4(ADAMTS17):c.*966G>T
|
rs886050963
|
0.00019
|
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met)
|
rs142633005
|
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.3590-8T>C
|
rs140600
|
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_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.*1228T>C
|
rs372333234
|
0.00016
|
NM_000428.3(LTBP2):c.*55G>A
|
rs185374765
|
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.2742C>T (p.Ser914=)
|
rs374793763
|
0.00016
|
NM_139057.4(ADAMTS17):c.*2598T>C
|
rs754478048
|
0.00016
|
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala)
|
rs202099735
|
0.00016
|
NM_139057.4(ADAMTS17):c.3127+12C>T
|
rs200475413
|
0.00016
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
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_001104631.2(PDE4D):c.*310C>A
|
rs558677290
|
0.00015
|
NM_002734.5(PRKAR1A):c.*724T>A
|
rs746409603
|
0.00015
|
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly)
|
rs201734269
|
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_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.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_001104631.2(PDE4D):c.125C>A (p.Pro42Gln)
|
rs372946517
|
0.00013
|
NM_002734.5(PRKAR1A):c.*1014A>G
|
rs886053311
|
0.00013
|
NM_002734.5(PRKAR1A):c.*1606A>G
|
rs144632545
|
0.00013
|
NM_014714.4(IFT140):c.*46T>G
|
rs761282751
|
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_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp)
|
rs147534770
|
0.00012
|
NM_001104631.2(PDE4D):c.*2604A>C
|
rs542930751
|
0.00012
|
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=)
|
rs141432364
|
0.00012
|
NM_005359.6(SMAD4):c.*1187A>G
|
rs181664459
|
0.00012
|
NM_014694.4(ADAMTSL2):c.885C>T (p.Thr295=)
|
rs772868128
|
0.00012
|
NM_014714.4(IFT140):c.2768+12C>T
|
rs756491638
|
0.00012
|
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln)
|
rs199769798
|
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.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
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.*2353C>T
|
rs550660083
|
0.00011
|
NM_005359.6(SMAD4):c.*5096C>A
|
rs761008429
|
0.00011
|
NM_014714.4(IFT140):c.2724C>T (p.Ala908=)
|
rs138166567
|
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_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_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=)
|
rs562333691
|
0.00010
|
NM_001104631.2(PDE4D):c.*1295G>A
|
rs556877242
|
0.00010
|
NM_001104631.2(PDE4D):c.*2166del
|
rs747331829
|
0.00010
|
NM_001104631.2(PDE4D):c.1041T>C (p.Pro347=)
|
rs767986152
|
0.00010
|
NM_005359.6(SMAD4):c.*12G>A
|
rs148687037
|
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_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
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.1975C>T (p.Arg659Trp)
|
rs749099710
|
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.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
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_002734.5(PRKAR1A):c.103A>G (p.Ile35Val)
|
rs377513504
|
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.2542C>T (p.Arg848Cys)
|
rs201384469
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
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.3171C>T (p.Ser1057=)
|
rs144400069
|
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_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
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.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_030957.4(ADAMTS10):c.*311A>G
|
rs1045796093
|
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_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_001104631.2(PDE4D):c.*4703A>G
|
rs186917544
|
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.1653-14C>T
|
rs148433720
|
0.00007
|
NM_030957.4(ADAMTS10):c.2130C>T (p.Gly710=)
|
rs183691340
|
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.4211-10C>T
|
rs28730793
|
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.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
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_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_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.2423C>T (p.Ala808Val)
|
rs748463111
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
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.4266C>T (p.Ala1422=)
|
rs149359139
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
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.3128-6C>T
|
rs148559983
|
0.00006
|
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys)
|
rs754980579
|
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.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
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.5155G>A (p.Val1719Met)
|
rs189020867
|
0.00005
|
NM_001104631.2(PDE4D):c.*1361C>T
|
rs187518449
|
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_001104631.2(PDE4D):c.1197A>G (p.Glu399=)
|
rs369906474
|
0.00005
|
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr)
|
rs749222606
|
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_014694.4(ADAMTSL2):c.310-10C>T
|
rs571169702
|
0.00005
|
NM_014714.4(IFT140):c.2817G>A (p.Ser939=)
|
rs373651150
|
0.00005
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
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.*1325T>C
|
rs569152308
|
0.00004
|
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.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
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_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.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.546G>A (p.Thr182=)
|
rs117639566
|
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.-401C>T
|
rs555375675
|
0.00004
|
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)
|
rs756795016
|
0.00004
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
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_014714.4(IFT140):c.-267G>C
|
rs574385960
|
0.00004
|
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr)
|
rs769337607
|
0.00004
|
NM_014714.4(IFT140):c.2424G>A (p.Ala808=)
|
rs375979698
|
0.00004
|
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)
|
rs771116194
|
0.00004
|
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)
|
rs375975334
|
0.00004
|
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=)
|
rs368713443
|
0.00004
|
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala)
|
rs756448762
|
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.903-5T>G
|
rs900599017
|
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.1748C>T (p.Pro583Leu)
|
rs201586136
|
0.00004
|
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=)
|
rs753804023
|
0.00004
|
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp)
|
rs200745301
|
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.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
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_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.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_001104631.2(PDE4D):c.2401G>A (p.Val801Ile)
|
rs747415773
|
0.00003
|
NM_001104631.2(PDE4D):c.705T>C (p.Thr235=)
|
rs199590419
|
0.00003
|
NM_002734.5(PRKAR1A):c.*1487C>T
|
rs886053314
|
0.00003
|
NM_002734.5(PRKAR1A):c.*299T>G
|
rs569225886
|
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_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_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.*429C>T
|
rs192256907
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
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.2781G>A (p.Ser927=)
|
rs773225207
|
0.00003
|
NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala)
|
rs373499004
|
0.00003
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
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_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
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.*1484C>T
|
rs533502309
|
0.00002
|
NM_000138.5(FBN1):c.*253A>T
|
rs539383558
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
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.1252C>T (p.Arg418Trp)
|
rs750666346
|
0.00002
|
NM_001104631.2(PDE4D):c.1831-7A>G
|
rs766871489
|
0.00002
|
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=)
|
rs538879121
|
0.00002
|
NM_002734.5(PRKAR1A):c.-6-7C>T
|
rs373646911
|
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.*5080A>G
|
rs532965680
|
0.00002
|
NM_005359.6(SMAD4):c.*580A>G
|
rs1421486746
|
0.00002
|
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)
|
rs757211048
|
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.1155+15G>A
|
rs764275810
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.1944C>T (p.Pro648=)
|
rs763449097
|
0.00002
|
NM_014714.4(IFT140):c.2224G>A (p.Glu742Lys)
|
rs1420709766
|
0.00002
|
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr)
|
rs1438111084
|
0.00002
|
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)
|
rs765923171
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser)
|
rs368380437
|
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_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.*1437G>A
|
rs549498511
|
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.*764G>A
|
rs55717426
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.1837+9T>C
|
rs56102085
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
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.4336+11G>A
|
rs886051249
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
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.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_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.1053G>A (p.Gln351=)
|
rs370618257
|
0.00001
|
NM_001104631.2(PDE4D):c.1188+15A>G
|
rs1747991195
|
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.225G>A (p.Pro75=)
|
rs957259316
|
0.00001
|
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly)
|
rs1290453118
|
0.00001
|
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr)
|
rs780848487
|
0.00001
|
NM_001104631.2(PDE4D):c.993G>A (p.Glu331=)
|
rs768712121
|
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.28G>A (p.Glu10Lys)
|
rs1467886544
|
0.00001
|
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=)
|
rs746113372
|
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.*30A>C
|
rs767288576
|
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.*334C>T
|
rs534790830
|
0.00001
|
NM_005359.6(SMAD4):c.*3843G>A
|
rs886053915
|
0.00001
|
NM_005359.6(SMAD4):c.*4643T>C
|
rs369040052
|
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.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
NM_005359.6(SMAD4):c.249+10A>C
|
rs752243771
|
0.00001
|
NM_005359.6(SMAD4):c.298A>C (p.Arg100=)
|
rs751154230
|
0.00001
|
NM_005359.6(SMAD4):c.667+3G>A
|
rs757971589
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
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.876G>A (p.Pro292=)
|
rs753358186
|
0.00001
|
NM_014112.5(TRPS1):c.-470T>C
|
rs567007790
|
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.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.1402G>A (p.Glu468Lys)
|
rs756882000
|
0.00001
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
0.00001
|
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn)
|
rs138674110
|
0.00001
|
NM_014714.4(IFT140):c.1872G>A (p.Thr624=)
|
rs775156902
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
0.00001
|
NM_014714.4(IFT140):c.2012G>A (p.Arg671His)
|
rs1372026395
|
0.00001
|
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala)
|
rs754474621
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val)
|
rs757852837
|
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.3501C>T (p.Thr1167=)
|
rs377319314
|
0.00001
|
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)
|
rs752664070
|
0.00001
|
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln)
|
rs149837281
|
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.3788C>T (p.Pro1263Leu)
|
rs775044452
|
0.00001
|
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)
|
rs776522454
|
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.4278G>T (p.Gly1426=)
|
rs200161877
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
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_139057.4(ADAMTS17):c.*111C>T
|
rs886050971
|
0.00001
|
NM_139057.4(ADAMTS17):c.*1348dup
|
rs545574106
|
0.00001
|
NM_139057.4(ADAMTS17):c.*1741A>T
|
rs542106384
|
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
|
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.*1562G>T
|
rs78442438
|
|
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.*1950dup
|
rs535798341
|
|
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.*960del
|
rs527621676
|
|
NM_000138.5(FBN1):c.*967C>T
|
rs56024388
|
|
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.-35C>T
|
rs199781948
|
|
NM_000138.5(FBN1):c.-70C>A
|
rs886051253
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
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.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5066-14dup
|
rs3833018
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
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.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
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.6582G>T (p.Glu2194Asp)
|
rs2043050683
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
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.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
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.110G>T (p.Arg37Met)
|
rs934996
|
|
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.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.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.4232T>G (p.Met1411Arg)
|
rs578210394
|
|
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_001104631.2(PDE4D):c.*1020_*1022dup
|
rs886060711
|
|
NM_001104631.2(PDE4D):c.*1200T>A
|
rs577495801
|
|
NM_001104631.2(PDE4D):c.*1201A>T
|
rs559220819
|
|
NM_001104631.2(PDE4D):c.*1251A>G
|
rs17719258
|
|
NM_001104631.2(PDE4D):c.*1446T>C
|
rs886060707
|
|
NM_001104631.2(PDE4D):c.*1459_*1463dup
|
rs140905619
|
|
NM_001104631.2(PDE4D):c.*1634_*1635dup
|
rs138187044
|
|
NM_001104631.2(PDE4D):c.*1729G>C
|
rs751797196
|
|
NM_001104631.2(PDE4D):c.*1774TATT[1]
|
rs66487103
|
|
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.*2242_*2243del
|
rs148755437
|
|
NM_001104631.2(PDE4D):c.*2768T>G
|
rs702531
|
|
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.*466G>T
|
rs140371223
|
|
NM_001104631.2(PDE4D):c.*4727C>G
|
rs1742320588
|
|
NM_001104631.2(PDE4D):c.*496_*500dup
|
rs527630861
|
|
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.*793GTTT[3]
|
rs200995197
|
|
NM_001104631.2(PDE4D):c.*815_*817dup
|
rs67531361
|
|
NM_001104631.2(PDE4D):c.*872_*875dup
|
rs3839217
|
|
NM_001104631.2(PDE4D):c.1189-9dup
|
rs368587062
|
|
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro)
|
rs1747740719
|
|
NM_001104631.2(PDE4D):c.1288-8dup
|
rs143090133
|
|
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val)
|
rs1747451452
|
|
NM_001104631.2(PDE4D):c.1552+7A>G
|
rs768894375
|
|
NM_001104631.2(PDE4D):c.1707+12A>C
|
rs1744027001
|
|
NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln)
|
rs1743815247
|
|
NM_001104631.2(PDE4D):c.2051A>G (p.Glu684Gly)
|
rs1743358464
|
|
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.758+11C>A
|
rs202215336
|
|
NM_001276290.1(PRKAR1A):c.973+3439G>T
|
rs2086031493
|
|
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.*172_*175del
|
rs201146882
|
|
NM_002734.5(PRKAR1A):c.*1835del
|
rs138320066
|
|
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.*2188C>G
|
rs6958
|
|
NM_002734.5(PRKAR1A):c.*2212C>T
|
rs545517617
|
|
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.*587dup
|
rs398041821
|
|
NM_002734.5(PRKAR1A):c.*609C>G
|
rs1307801222
|
|
NM_002734.5(PRKAR1A):c.*672T>C
|
rs546125048
|
|
NM_002734.5(PRKAR1A):c.*704T>G
|
rs886053310
|
|
NM_002734.5(PRKAR1A):c.*812A>C
|
rs116996069
|
|
NM_002734.5(PRKAR1A):c.*812A>G
|
rs116996069
|
|
NM_002734.5(PRKAR1A):c.-75G>T
|
rs559757120
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr)
|
rs1472324247
|
|
NM_002734.5(PRKAR1A):c.349-5dup
|
rs3841514
|
|
NM_002734.5(PRKAR1A):c.440+15T>C
|
rs78183210
|
|
NM_002734.5(PRKAR1A):c.770-8T>G
|
rs182841147
|
|
NM_002734.5(PRKAR1A):c.770-9G>T
|
rs562094333
|
|
NM_005359.5(SMAD4):c.*6586C>T
|
rs534182161
|
|
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.*1864C>A
|
rs561442548
|
|
NM_005359.6(SMAD4):c.*1866A>G
|
rs4940037
|
|
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.*3878dup
|
rs373831598
|
|
NM_005359.6(SMAD4):c.*3950A>G
|
rs1910632230
|
|
NM_005359.6(SMAD4):c.*4085C>A
|
rs886053917
|
|
NM_005359.6(SMAD4):c.*4585GA[1]
|
rs374333786
|
|
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.*5631AC[3]
|
rs368759758
|
|
NM_005359.6(SMAD4):c.*5691_*5693del
|
rs374306389
|
|
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.*5863_*5867del
|
rs78989198
|
|
NM_005359.6(SMAD4):c.*5874C>T
|
rs886053933
|
|
NM_005359.6(SMAD4):c.*5994A>C
|
rs3819122
|
|
NM_005359.6(SMAD4):c.*6057G>T
|
rs886053935
|
|
NM_005359.6(SMAD4):c.*6158GATT[1]
|
rs886053936
|
|
NM_005359.6(SMAD4):c.*6353del
|
rs573785159
|
|
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.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.1632G>A (p.Pro544=)
|
rs549489716
|
|
NM_005359.6(SMAD4):c.87T>G (p.Gly29=)
|
rs886053893
|
|
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.*5300_*5303del
|
rs564851438
|
|
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.1382C>G (p.Ser461Ter)
|
rs2130493114
|
|
NM_014694.4(ADAMTSL2):c.*291C>T
|
rs1588315349
|
|
NM_014694.4(ADAMTSL2):c.*291del
|
rs67336169
|
|
NM_014694.4(ADAMTSL2):c.*304C>G
|
rs1831200986
|
|
NM_014694.4(ADAMTSL2):c.*490C>T
|
rs886063651
|
|
NM_014694.4(ADAMTSL2):c.*92G>A
|
rs62574238
|
|
NM_014694.4(ADAMTSL2):c.*98C>T
|
rs1831194918
|
|
NM_014694.4(ADAMTSL2):c.-212dup
|
rs539826426
|
|
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.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.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.2849A>G (p.His950Arg)
|
rs1831191982
|
|
NM_014694.4(ADAMTSL2):c.310-9G>A
|
rs147342065
|
|
NM_014694.4(ADAMTSL2):c.392A>G (p.Gln131Arg)
|
rs761328410
|
|
NM_014694.4(ADAMTSL2):c.682+10A>G
|
rs199776835
|
|
NM_014694.4(ADAMTSL2):c.804C>T (p.Asn268=)
|
rs1830367278
|
|
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.1380C>T (p.Asn460=)
|
rs1339640657
|
|
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)
|
rs886051770
|
|
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser)
|
rs886051769
|
|
NM_014714.4(IFT140):c.2578-13C>T
|
rs886051723
|
|
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.2709C>T (p.Thr903=)
|
rs1460776036
|
|
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly)
|
rs548992623
|
|
NM_014714.4(IFT140):c.2997+8C>G
|
rs372183503
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg)
|
rs886051709
|
|
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)
|
rs763709094
|
|
NM_014714.4(IFT140):c.3660+13C>T
|
rs767836990
|
|
NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys)
|
rs751861503
|
|
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])
|
rs746697405
|
|
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu)
|
rs886051708
|
|
NM_014714.4(IFT140):c.459G>T (p.Thr153=)
|
rs61739554
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe)
|
rs886051768
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
NM_014714.4(IFT140):c.810+9G>T
|
rs886051767
|
|
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)
|
rs4786350
|
|
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.937C>G (p.Leu313Val)
|
rs758052767
|
|
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup
|
rs138501563
|
|
NM_030957.4(ADAMTS10):c.*157G>A
|
rs2042332746
|
|
NM_030957.4(ADAMTS10):c.*238dup
|
rs151216219
|
|
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.146A>G (p.His49Arg)
|
rs1555742346
|
|
NM_030957.4(ADAMTS10):c.1480-4G>T
|
rs368465218
|
|
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.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.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.292C>T (p.Leu98=)
|
rs2042706336
|
|
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.834G>A (p.Ser278=)
|
rs782449192
|
|
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.*1227AAGG[1]
|
rs10549565
|
|
NM_139057.4(ADAMTS17):c.*1278A>G
|
rs2060245859
|
|
NM_139057.4(ADAMTS17):c.*1419G>A
|
rs75143725
|
|
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.*172_*174del
|
rs137961566
|
|
NM_139057.4(ADAMTS17):c.*1759G>C
|
rs539776359
|
|
NM_139057.4(ADAMTS17):c.*1773G>T
|
rs74037057
|
|
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.*19G>A
|
rs201992797
|
|
NM_139057.4(ADAMTS17):c.*2013T>A
|
rs2727194
|
|
NM_139057.4(ADAMTS17):c.*2013T>G
|
rs2727194
|
|
NM_139057.4(ADAMTS17):c.*2015T>C
|
rs956479865
|
|
NM_139057.4(ADAMTS17):c.*2142GTT[1]
|
rs886050956
|
|
NM_139057.4(ADAMTS17):c.*2157AG[1]
|
rs144918924
|
|
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.*2228G>C
|
rs541793251
|
|
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.*2354C>G
|
rs8036076
|
|
NM_139057.4(ADAMTS17):c.*2354C>T
|
rs8036076
|
|
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.*2605G>C
|
rs191759654
|
|
NM_139057.4(ADAMTS17):c.*260C>T
|
rs747343009
|
|
NM_139057.4(ADAMTS17):c.*2626_*2628del
|
rs543559051
|
|
NM_139057.4(ADAMTS17):c.*2637C>G
|
rs529849561
|
|
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.*429A>C
|
rs2581346
|
|
NM_139057.4(ADAMTS17):c.*481G>A
|
rs1046788827
|
|
NM_139057.4(ADAMTS17):c.*498A>C
|
rs2573651
|
|
NM_139057.4(ADAMTS17):c.*498A>T
|
rs2573651
|
|
NM_139057.4(ADAMTS17):c.*567G>A
|
rs2573649
|
|
NM_139057.4(ADAMTS17):c.*567G>C
|
rs2573649
|
|
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.*882G>C
|
rs2581358
|
|
NM_139057.4(ADAMTS17):c.*882G>T
|
rs2581358
|
|
NM_139057.4(ADAMTS17):c.*901G>A
|
rs962309056
|
|
NM_139057.4(ADAMTS17):c.*963C>T
|
rs563070394
|
|
NM_139057.4(ADAMTS17):c.*99A>G
|
rs58960452
|
|
NM_139057.4(ADAMTS17):c.-19del
|
rs150933882
|
|
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.-20G>T
|
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.1302T>C (p.Asp434=)
|
rs559102316
|
|
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile)
|
rs72755233
|
|
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.1696A>C (p.Arg566=)
|
rs12907333
|
|
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.2518G>A (p.Asp840Asn)
|
rs147316982
|
|
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.3111C>A (p.Ile1037=)
|
rs886050973
|
|
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys)
|
rs149434438
|
|
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=)
|
rs112214202
|
|
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
|
|