ClinVar Miner

List of variants studied for acromelic dysplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1690
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HGVS dbSNP gnomAD frequency
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

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