ClinVar Miner

List of variants reported as uncertain significance for acromelic dysplasia

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2339
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_014694.4(ADAMTSL2):c.2436C>T (p.Arg812=) rs61733946 0.07271
NM_001104631.2(PDE4D):c.*4886A>C rs17291089 0.07219
NM_005359.6(SMAD4):c.*5547A>G rs11662245 0.07079
NM_014694.4(ADAMTSL2):c.2325C>G (p.Ser775=) rs2301606 0.03001
NM_014694.4(ADAMTSL2):c.2416-9C>T rs111906016 0.02249
NM_014694.4(ADAMTSL2):c.2049C>T (p.Pro683=) rs886063644 0.01990
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser) rs752071055 0.01748
NM_005359.6(SMAD4):c.*5553A>G rs867342943 0.01606
NM_005359.6(SMAD4):c.*5534C>G rs923444877 0.01573
NM_005359.6(SMAD4):c.*5555A>G rs1047967021 0.01458
NM_014694.4(ADAMTSL2):c.*595G>A rs538282848 0.01292
NM_005359.6(SMAD4):c.*5545G>A rs752846586 0.01214
NM_014694.4(ADAMTSL2):c.*424G>T rs1036483978 0.01060
NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=) rs368922820 0.01033
NM_014694.4(ADAMTSL2):c.*287C>A rs868340954 0.00843
NM_014694.4(ADAMTSL2):c.2089-4C>A rs368200205 0.00799
NM_014694.4(ADAMTSL2):c.1815C>T (p.Asp605=) rs369366346 0.00796
NM_014694.4(ADAMTSL2):c.1557C>T (p.Ser519=) rs62637565 0.00763
NM_005359.6(SMAD4):c.*5549A>G rs777856072 0.00617
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982 0.00563
NM_005359.6(SMAD4):c.*5557A>G rs1414914656 0.00550
NM_005359.6(SMAD4):c.*5578G>C rs867684157 0.00469
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_139057.4(ADAMTS17):c.*1448C>T rs188903672 0.00353
NM_014694.4(ADAMTSL2):c.*483A>C rs1050057510 0.00338
NM_005359.6(SMAD4):c.*5551A>G rs202140561 0.00329
NM_000428.3(LTBP2):c.*705C>T rs41307092 0.00320
NM_014694.4(ADAMTSL2):c.2007C>T (p.Ala669=) rs372073271 0.00293
NM_001104631.2(PDE4D):c.*2100C>T rs577109679 0.00280
NM_030957.4(ADAMTS10):c.*630C>T rs187201074 0.00235
NM_000428.3(LTBP2):c.3527-14T>C rs137854886 0.00233
NM_139057.4(ADAMTS17):c.*1685G>A rs573719295 0.00232
NM_014694.4(ADAMTSL2):c.*610G>A rs746098742 0.00228
NM_000428.3(LTBP2):c.807C>T (p.Pro269=) rs61738024 0.00219
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg) rs146934810 0.00209
NM_001104631.2(PDE4D):c.*2653C>T rs13172038 0.00201
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=) rs61757472 0.00183
NM_000428.3(LTBP2):c.*1631C>T rs183119073 0.00178
NM_139057.4(ADAMTS17):c.*2511A>G rs145561763 0.00178
NM_139057.4(ADAMTS17):c.*1766G>A rs139353567 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001104631.2(PDE4D):c.*2747G>A rs557226166 0.00156
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln) rs553955759 0.00145
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=) rs145851939 0.00139
NM_014694.4(ADAMTSL2):c.*242C>T rs372143951 0.00139
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu) rs143817747 0.00136
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=) rs142320702 0.00133
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile) rs145897018 0.00129
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143 0.00128
NM_139057.4(ADAMTS17):c.*2220G>A rs559688841 0.00128
NM_139057.4(ADAMTS17):c.*2616G>A rs375704403 0.00124
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_014694.4(ADAMTSL2):c.2592+13C>T rs562213175 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000428.3(LTBP2):c.-55G>A rs571506111 0.00109
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) rs202189990 0.00109
NM_139057.4(ADAMTS17):c.*2479C>G rs540696412 0.00105
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_001104631.2(PDE4D):c.*535A>G rs781074391 0.00103
NM_139057.4(ADAMTS17):c.*742C>T rs555201429 0.00102
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val) rs141952128 0.00096
NM_000428.3(LTBP2):c.*2569G>A rs531824728 0.00094
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_000428.3(LTBP2):c.*743G>A rs541978964 0.00092
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=) rs145206425 0.00092
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_014694.4(ADAMTSL2):c.1222G>A (p.Glu408Lys) rs757873971 0.00088
NM_014694.4(ADAMTSL2):c.690T>C (p.Ser230=) rs142777315 0.00087
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_139057.4(ADAMTS17):c.*2279G>A rs529729790 0.00083
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) rs149952751 0.00082
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634 0.00079
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala) rs946108501 0.00077
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=) rs139059770 0.00075
NM_000138.5(FBN1):c.*2091G>A rs575922741 0.00073
NM_014694.4(ADAMTSL2):c.2036C>G (p.Thr679Ser) rs948210454 0.00073
NM_000428.3(LTBP2):c.1796C>T (p.Pro599Leu) rs139018077 0.00072
NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His) rs144166844 0.00071
NM_000428.3(LTBP2):c.2771C>T (p.Ala924Val) rs142675579 0.00068
NM_030957.4(ADAMTS10):c.1743C>T (p.Ile581=) rs147694025 0.00067
NM_005359.6(SMAD4):c.*202A>G rs765823244 0.00064
NM_139057.4(ADAMTS17):c.*2790C>G rs529656441 0.00063
NM_000138.5(FBN1):c.*1341C>T rs766719764 0.00061
NM_001104631.2(PDE4D):c.*5295G>T rs143961299 0.00061
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=) rs150055188 0.00061
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=) rs146651611 0.00061
NM_005359.6(SMAD4):c.*2962C>T rs543699844 0.00059
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=) rs747636994 0.00059
NM_002734.5(PRKAR1A):c.*2197G>A rs533508012 0.00058
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_002734.5(PRKAR1A):c.-16C>A rs886053305 0.00057
NM_000428.3(LTBP2):c.4545C>T (p.Pro1515=) rs144521879 0.00056
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) rs139030976 0.00056
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu) rs28403592 0.00056
NM_014694.4(ADAMTSL2):c.*496C>T rs865954704 0.00056
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935 0.00056
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu) rs147286623 0.00055
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_000428.3(LTBP2):c.3047C>T (p.Thr1016Ile) rs149991486 0.00053
NM_005359.6(SMAD4):c.*1874C>G rs761701805 0.00053
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln) rs151257275 0.00053
NM_000428.3(LTBP2):c.2326G>A (p.Val776Ile) rs145507464 0.00051
NM_000428.3(LTBP2):c.4964A>G (p.Tyr1655Cys) rs140493259 0.00051
NM_014714.4(IFT140):c.*153C>T rs760987640 0.00051
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=) rs200551849 0.00051
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=) rs150290429 0.00051
NM_005359.6(SMAD4):c.*5541G>A rs1025975410 0.00050
NM_000428.3(LTBP2):c.-93C>T rs769936231 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_002734.5(PRKAR1A):c.*893G>C rs186568426 0.00049
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp) rs139904243 0.00048
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_005359.6(SMAD4):c.*6522C>T rs183472455 0.00047
NM_002734.5(PRKAR1A):c.-53C>T rs886053304 0.00044
NM_030957.4(ADAMTS10):c.1265C>T (p.Ala422Val) rs138620046 0.00044
NM_014714.4(IFT140):c.2067G>A (p.Ala689=) rs143537808 0.00043
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) rs146464282 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_014694.4(ADAMTSL2):c.*622C>G rs886063655 0.00042
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860 0.00041
NM_001104631.2(PDE4D):c.*403G>A rs752738157 0.00041
NM_014694.4(ADAMTSL2):c.1911C>T (p.Thr637=) rs891412360 0.00040
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys) rs143689354 0.00039
NM_000428.3(LTBP2):c.*229C>T rs141989493 0.00038
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_014694.4(ADAMTSL2):c.1006G>A (p.Glu336Lys) rs753606710 0.00037
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) rs143899594 0.00037
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr) rs137914200 0.00036
NM_005359.6(SMAD4):c.*4066C>T rs772166247 0.00036
NM_139057.4(ADAMTS17):c.-22G>A rs760846321 0.00036
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=) rs149252796 0.00036
NM_014112.5(TRPS1):c.*338del rs530055629 0.00035
NM_030957.4(ADAMTS10):c.303C>T (p.His101=) rs141630862 0.00035
NM_139057.4(ADAMTS17):c.*2690G>A rs566216613 0.00035
NM_139057.4(ADAMTS17):c.-69C>T rs534119279 0.00035
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys) rs367651794 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000428.3(LTBP2):c.3921C>T (p.Cys1307=) rs113219139 0.00034
NM_001104631.2(PDE4D):c.*2003T>C rs577458431 0.00034
NM_001104631.2(PDE4D):c.*2004C>A rs760686759 0.00034
NM_014694.4(ADAMTSL2):c.1590A>G (p.Pro530=) rs886063643 0.00034
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_139057.4(ADAMTS17):c.*1684C>T rs768887596 0.00034
NM_000428.3(LTBP2):c.1789+7G>A rs200259519 0.00033
NM_002734.5(PRKAR1A):c.*722A>G rs555951287 0.00033
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_005359.6(SMAD4):c.-495C>G rs886053886 0.00032
NM_014694.4(ADAMTSL2):c.682+13G>A rs368262959 0.00032
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_030957.4(ADAMTS10):c.*146G>A rs910156203 0.00032
NM_014694.4(ADAMTSL2):c.1320C>T (p.Asp440=) rs113136530 0.00031
NM_014694.4(ADAMTSL2):c.2533G>A (p.Glu845Lys) rs199711623 0.00031
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 0.00031
NM_139057.4(ADAMTS17):c.*2275A>G rs778643467 0.00031
NM_000428.3(LTBP2):c.2789-9T>C rs368269193 0.00030
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000428.3(LTBP2):c.*312T>C rs534807623 0.00029
NM_139057.4(ADAMTS17):c.*1763C>T rs550240800 0.00029
NM_139057.4(ADAMTS17):c.789+9G>A rs377670601 0.00029
NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=) rs191009072 0.00028
NM_000138.5(FBN1):c.-136G>C rs879283668 0.00027
NM_014694.4(ADAMTSL2):c.1283A>G (p.Asn428Ser) rs760679391 0.00027
NM_014694.4(ADAMTSL2):c.2469G>A (p.Glu823=) rs987965913 0.00027
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_000428.3(LTBP2):c.*167G>A rs574028105 0.00026
NM_002734.5(PRKAR1A):c.-25C>T rs546338099 0.00026
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=) rs142602984 0.00026
NM_139057.4(ADAMTS17):c.*2138C>T rs185690662 0.00026
NM_139057.4(ADAMTS17):c.*572T>C rs751250175 0.00026
NM_001104631.2(PDE4D):c.*5190A>G rs886060701 0.00025
NM_030957.4(ADAMTS10):c.*356G>A rs141523849 0.00025
NM_139057.4(ADAMTS17):c.*2422C>T rs528644699 0.00025
NM_139057.4(ADAMTS17):c.*519T>C rs886050966 0.00025
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met) rs140998386 0.00025
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp) rs61757475 0.00025
NM_000138.5(FBN1):c.*1706C>A rs770825180 0.00024
NM_000428.3(LTBP2):c.2184C>T (p.His728=) rs140818407 0.00024
NM_002734.5(PRKAR1A):c.*1687T>C rs986574420 0.00024
NM_014694.4(ADAMTSL2):c.*609C>T rs886063654 0.00024
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_139057.4(ADAMTS17):c.*4G>A rs200989311 0.00024
NM_001104631.2(PDE4D):c.*414T>C rs1030455444 0.00023
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=) rs563938783 0.00023
NM_000138.5(FBN1):c.*1432A>T rs750902806 0.00022
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His) rs143010135 0.00022
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu) rs191944410 0.00022
NM_014694.4(ADAMTSL2):c.1113C>T (p.Tyr371=) rs1044402763 0.00022
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_019023.5(PRMT7):c.1945G>A (p.Val649Ile) rs143131470 0.00022
NM_030957.4(ADAMTS10):c.-99-3C>T rs1047616409 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_139057.4(ADAMTS17):c.*419C>T rs1038576369 0.00022
NM_000428.3(LTBP2):c.*1005C>T rs541743695 0.00021
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982 0.00021
NM_002734.5(PRKAR1A):c.*1346A>G rs545417998 0.00021
NM_002734.5(PRKAR1A):c.*233C>T rs531560526 0.00021
NM_002734.5(PRKAR1A):c.*384C>T rs142203044 0.00021
NM_005359.6(SMAD4):c.*4262T>G rs371901376 0.00021
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) rs139286030 0.00021
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys) rs550588972 0.00020
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys) rs200673902 0.00020
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000428.3(LTBP2):c.*1180C>T rs576929018 0.00019
NM_000428.3(LTBP2):c.568G>A (p.Val190Ile) rs558742251 0.00019
NM_001104631.2(PDE4D):c.*3863T>C rs866405146 0.00019
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_139057.4(ADAMTS17):c.*2379C>T rs182417427 0.00019
NM_139057.4(ADAMTS17):c.*966G>T rs886050963 0.00019
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613 0.00019
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met) rs142633005 0.00019
NM_139057.4(ADAMTS17):c.3275C>T (p.Pro1092Leu) rs201896149 0.00019
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly) rs886050979 0.00019
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe) rs141367283 0.00019
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_014694.4(ADAMTSL2):c.*129G>A rs758945328 0.00018
NM_014694.4(ADAMTSL2):c.1477G>A (p.Glu493Lys) rs886063642 0.00018
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu) rs148766628 0.00017
NM_030957.4(ADAMTS10):c.-60G>A rs573082154 0.00017
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=) rs145594305 0.00017
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_000428.3(LTBP2):c.*55G>A rs185374765 0.00016
NM_000516.7(GNAS):c.312+36C>T rs200066108 0.00016
NM_001104631.2(PDE4D):c.*1268T>C rs886060709 0.00016
NM_014714.4(IFT140):c.-317T>A rs866146909 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_139057.4(ADAMTS17):c.*2598T>C rs754478048 0.00016
NM_139057.4(ADAMTS17):c.3127+12C>T rs200475413 0.00016
NM_001104631.2(PDE4D):c.*310C>A rs558677290 0.00015
NM_002734.5(PRKAR1A):c.*724T>A rs746409603 0.00015
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly) rs201734269 0.00015
NM_139057.4(ADAMTS17):c.3100G>A (p.Ala1034Thr) rs527897248 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_001104631.2(PDE4D):c.*58G>A rs963578789 0.00014
NM_002734.5(PRKAR1A):c.*2196C>T rs886053320 0.00014
NM_014694.4(ADAMTSL2):c.1198G>A (p.Gly400Ser) rs886063639 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966 0.00014
NM_030957.4(ADAMTS10):c.-153G>A rs568567704 0.00014
NM_139057.4(ADAMTS17):c.*1127C>T rs766519775 0.00014
NM_139057.4(ADAMTS17):c.*464C>T rs148258011 0.00014
NM_000428.3(LTBP2):c.-170G>T rs892707408 0.00013
NM_000428.3(LTBP2):c.2178C>T (p.Ala726=) rs144866585 0.00013
NM_000428.3(LTBP2):c.21C>G (p.Ala7=) rs757559806 0.00013
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=) rs546041607 0.00013
NM_001104631.2(PDE4D):c.*1924T>C rs749539498 0.00013
NM_002734.5(PRKAR1A):c.*1014A>G rs886053311 0.00013
NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn) rs886062623 0.00013
NM_014112.5(TRPS1):c.3400G>A (p.Val1134Ile) rs143500511 0.00013
NM_014714.4(IFT140):c.*46T>G rs761282751 0.00013
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) rs1259402740 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_030957.4(ADAMTS10):c.*36T>C rs782348033 0.00013
NM_030957.4(ADAMTS10):c.1395G>A (p.Pro465=) rs367671600 0.00013
NM_139057.4(ADAMTS17):c.*1065G>A rs886050959 0.00013
NM_139057.4(ADAMTS17):c.*2193G>C rs886050955 0.00013
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His) rs201503183 0.00013
NM_000428.3(LTBP2):c.1612C>T (p.Arg538Trp) rs147534770 0.00012
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu) rs141230498 0.00012
NM_001104631.2(PDE4D):c.*2604A>C rs542930751 0.00012
NM_005359.6(SMAD4):c.*1187A>G rs181664459 0.00012
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala) rs373510969 0.00012
NM_014694.4(ADAMTSL2):c.885C>T (p.Thr295=) rs772868128 0.00012
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_139057.4(ADAMTS17):c.*611C>T rs906820389 0.00012
NM_000138.5(FBN1):c.*2037T>C rs544842106 0.00011
NM_000138.5(FBN1):c.*2556G>A rs886051221 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000428.3(LTBP2):c.4808G>A (p.Arg1603His) rs75200417 0.00011
NM_000428.3(LTBP2):c.5056G>A (p.Val1686Ile) rs139734678 0.00011
NM_000428.3(LTBP2):c.565C>T (p.Pro189Ser) rs199581921 0.00011
NM_001104631.2(PDE4D):c.*1034C>T rs886060710 0.00011
NM_001104631.2(PDE4D):c.*3492T>G rs949531257 0.00011
NM_001104631.2(PDE4D):c.1577A>G (p.Asn526Ser) rs757175453 0.00011
NM_005359.6(SMAD4):c.*1661C>A rs989803194 0.00011
NM_005359.6(SMAD4):c.*2217G>A rs1035391862 0.00011
NM_005359.6(SMAD4):c.*5096C>A rs761008429 0.00011
NM_014112.5(TRPS1):c.3140C>T (p.Pro1047Leu) rs200876887 0.00011
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 0.00011
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567 0.00011
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His) rs147661907 0.00011
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr) rs751861503 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_014714.4(IFT140):c.634+6G>C rs368229365 0.00011
NM_030957.4(ADAMTS10):c.1149C>T (p.Gly383=) rs373993156 0.00011
NM_030957.4(ADAMTS10):c.1956G>A (p.Thr652=) rs148493665 0.00011
NM_139057.4(ADAMTS17):c.*2234G>C rs1040541256 0.00011
NM_139057.4(ADAMTS17):c.*2480G>A rs573353500 0.00011
NM_139057.4(ADAMTS17):c.*359A>G rs150430121 0.00011
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=) rs550282581 0.00011
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met) rs371570653 0.00011
NM_000428.3(LTBP2):c.4476C>T (p.Phe1492=) rs562333691 0.00010
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile) rs745626701 0.00010
NM_001104631.2(PDE4D):c.*1295G>A rs556877242 0.00010
NM_001104631.2(PDE4D):c.*2166del rs747331829 0.00010
NM_005359.6(SMAD4):c.*1812T>G rs557065270 0.00010
NM_005359.6(SMAD4):c.*5235C>G rs755051361 0.00010
NM_005359.6(SMAD4):c.*5576C>G rs886053930 0.00010
NM_014112.5(TRPS1):c.-487A>C rs886062633 0.00010
NM_014714.4(IFT140):c.*118G>A rs372303683 0.00010
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301 0.00010
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser) rs145645423 0.00010
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg) rs146163533 0.00010
NM_139057.4(ADAMTS17):c.*1288C>T rs902901073 0.00010
NM_139057.4(ADAMTS17):c.*1600C>T rs185290147 0.00010
NM_139057.4(ADAMTS17):c.*2291G>A rs750700990 0.00010
NM_139057.4(ADAMTS17):c.*2425G>A rs868757417 0.00010
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=) rs565893965 0.00010
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser) rs200327256 0.00010
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser) rs1042212825 0.00010
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=) rs146286415 0.00010
NM_000138.5(FBN1):c.*1981C>T rs1054860347 0.00009
NM_000138.5(FBN1):c.*2044C>T rs561911965 0.00009
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.4075G>A (p.Ala1359Thr) rs368195399 0.00009
NM_001104631.2(PDE4D):c.*1278C>T rs775984561 0.00009
NM_001104631.2(PDE4D):c.*1572A>G rs961856114 0.00009
NM_001104631.2(PDE4D):c.240C>G (p.Pro80=) rs1345148257 0.00009
NM_005359.6(SMAD4):c.*3763C>T rs571174422 0.00009
NM_005359.6(SMAD4):c.*969A>G rs745934938 0.00009
NM_014694.4(ADAMTSL2):c.1137G>A (p.Leu379=) rs1052592021 0.00009
NM_014694.4(ADAMTSL2):c.1257C>T (p.Pro419=) rs1476263916 0.00009
NM_014694.4(ADAMTSL2):c.412+10G>A rs375029785 0.00009
NM_014694.4(ADAMTSL2):c.798C>T (p.Asn266=) rs370348176 0.00009
NM_014694.4(ADAMTSL2):c.987G>A (p.Thr329=) rs932262126 0.00009
NM_014714.4(IFT140):c.*430G>A rs532233762 0.00009
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_014714.4(IFT140):c.633C>T (p.Asp211=) rs201319525 0.00009
NM_030957.4(ADAMTS10):c.1085-10G>A rs374055293 0.00009
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236 0.00009
NM_030957.4(ADAMTS10):c.2415G>A (p.Arg805=) rs782638735 0.00009
NM_139057.4(ADAMTS17):c.*2185G>C rs540201674 0.00009
NM_139057.4(ADAMTS17):c.1889-14C>T rs374520210 0.00009
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu) rs201372116 0.00008
NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=) rs763990884 0.00008
NM_000428.3(LTBP2):c.4869G>A (p.Leu1623=) rs61738022 0.00008
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met) rs376875568 0.00008
NM_014694.4(ADAMTSL2):c.1095G>A (p.Pro365=) rs776340163 0.00008
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln) rs762399912 0.00008
NM_014714.4(IFT140):c.2067+4C>T rs111785408 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 0.00008
NM_014714.4(IFT140):c.3947A>T (p.Lys1316Met) rs1288732698 0.00008
NM_030957.4(ADAMTS10):c.*311A>G rs1045796093 0.00008
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_139057.4(ADAMTS17):c.*421G>C rs886050968 0.00008
NM_139057.4(ADAMTS17):c.789+15G>A rs374137320 0.00008
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000428.3(LTBP2):c.*2026T>C rs886050748 0.00007
NM_000428.3(LTBP2):c.-64C>T rs886050762 0.00007
NM_000428.3(LTBP2):c.10C>T (p.Arg4Trp) rs773927709 0.00007
NM_000428.3(LTBP2):c.2908+9C>T rs1004486722 0.00007
NM_000428.3(LTBP2):c.3193C>T (p.Leu1065Phe) rs150855472 0.00007
NM_000428.3(LTBP2):c.654C>T (p.Cys218=) rs375324850 0.00007
NM_001104631.2(PDE4D):c.*4703A>G rs186917544 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_002734.5(PRKAR1A):c.*1062A>G rs752303671 0.00007
NM_002734.5(PRKAR1A):c.*331G>A rs1001484586 0.00007
NM_005359.6(SMAD4):c.*5542C>T rs778816929 0.00007
NM_005359.6(SMAD4):c.*5833G>A rs190039588 0.00007
NM_014694.4(ADAMTSL2):c.1068C>T (p.Asp356=) rs1026897116 0.00007
NM_014694.4(ADAMTSL2):c.651G>A (p.Thr217=) rs148191166 0.00007
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00007
NM_014714.4(IFT140):c.1653-14C>T rs148433720 0.00007
NM_014714.4(IFT140):c.2067+5G>A rs370629233 0.00007
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe) rs137966471 0.00007
NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys) rs368922367 0.00007
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 0.00007
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401 0.00007
NM_019023.5(PRMT7):c.499G>A (p.Val167Met) rs138763605 0.00007
NM_030957.4(ADAMTS10):c.2130C>T (p.Gly710=) rs183691340 0.00007
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu) rs201356815 0.00007
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His) rs201920741 0.00007
NM_000138.5(FBN1):c.*2592T>C rs752936528 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000428.3(LTBP2):c.*1743C>T rs781717691 0.00006
NM_000428.3(LTBP2):c.5410T>C (p.Cys1804Arg) rs776552082 0.00006
NM_000428.3(LTBP2):c.989C>T (p.Ala330Val) rs780864087 0.00006
NM_002734.5(PRKAR1A):c.*156C>T rs535007635 0.00006
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109 0.00006
NM_005359.6(SMAD4):c.*2793T>G rs886053909 0.00006
NM_005359.6(SMAD4):c.*5745T>C rs780866822 0.00006
NM_005359.6(SMAD4):c.*81T>G rs886053894 0.00006
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met) rs61758125 0.00006
NM_014694.4(ADAMTSL2):c.1274G>A (p.Arg425Gln) rs757684437 0.00006
NM_014694.4(ADAMTSL2):c.1626C>T (p.Ala542=) rs985213789 0.00006
NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=) rs372783597 0.00006
NM_014694.4(ADAMTSL2):c.999G>A (p.Pro333=) rs766276641 0.00006
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) rs200292484 0.00006
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) rs781160807 0.00006
NM_014714.4(IFT140):c.1327G>A (p.Asp443Asn) rs538562131 0.00006
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00006
NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln) rs768971224 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp) rs142342085 0.00006
NM_014714.4(IFT140):c.2965C>T (p.Arg989Cys) rs147756729 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) rs771632573 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_019023.5(PRMT7):c.1726G>A (p.Glu576Lys) rs377019678 0.00006
NM_030957.4(ADAMTS10):c.1176C>T (p.His392=) rs371013844 0.00006
NM_030957.4(ADAMTS10):c.613C>T (p.Arg205Trp) rs147270233 0.00006
NM_030957.4(ADAMTS10):c.628C>T (p.Arg210Trp) rs199972750 0.00006
NM_139057.4(ADAMTS17):c.*2316C>G rs886050954 0.00006
NM_139057.4(ADAMTS17):c.*2429G>A rs886050952 0.00006
NM_139057.4(ADAMTS17):c.*2878C>T rs886050950 0.00006
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg) rs145156568 0.00006
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=) rs760290195 0.00006
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=) rs200766799 0.00006
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=) rs374725364 0.00006
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys) rs754980579 0.00006
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser) rs150132039 0.00006
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=) rs377212581 0.00006
NM_000138.5(FBN1):c.-123C>A rs1004900313 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_000428.3(LTBP2):c.2388+8C>T rs201838800 0.00005
NM_000428.3(LTBP2):c.2837C>T (p.Thr946Ile) rs771319126 0.00005
NM_000428.3(LTBP2):c.2852C>T (p.Ser951Leu) rs773718655 0.00005
NM_000428.3(LTBP2):c.3709G>A (p.Glu1237Lys) rs769155905 0.00005
NM_000428.3(LTBP2):c.4178-6G>A rs551478195 0.00005
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg) rs370119182 0.00005
NM_000428.3(LTBP2):c.5155G>A (p.Val1719Met) rs189020867 0.00005
NM_001104631.2(PDE4D):c.*2383G>A rs185766952 0.00005
NM_001104631.2(PDE4D):c.*3875G>A rs886060704 0.00005
NM_001104631.2(PDE4D):c.*3892G>A rs1046069326 0.00005
NM_001104631.2(PDE4D):c.*5283A>G rs866638632 0.00005
NM_005359.6(SMAD4):c.*1067G>A rs542839921 0.00005
NM_005359.6(SMAD4):c.*218A>G rs886053895 0.00005
NM_014694.4(ADAMTSL2):c.*632A>G rs945241182 0.00005
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln) rs780189760 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys) rs368830697 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) rs141986611 0.00005
NM_030957.4(ADAMTS10):c.3043-8C>T rs759098979 0.00005
NM_139057.4(ADAMTS17):c.*1507G>A rs534291888 0.00005
NM_139057.4(ADAMTS17):c.*2289A>G rs945247732 0.00005
NM_139057.4(ADAMTS17):c.*802G>A rs571008658 0.00005
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=) rs758555346 0.00005
NM_139057.4(ADAMTS17):c.2950-6C>T rs1447997408 0.00005
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu) rs764391097 0.00005
NM_000138.5(FBN1):c.*2221A>G rs886051226 0.00004
NM_000138.5(FBN1):c.*300T>C rs1011876253 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000428.3(LTBP2):c.*929A>G rs1175589944 0.00004
NM_000428.3(LTBP2):c.2197G>A (p.Ala733Thr) rs925483356 0.00004
NM_000428.3(LTBP2):c.2283C>T (p.Ser761=) rs537908823 0.00004
NM_000428.3(LTBP2):c.3278-15G>A rs201661499 0.00004
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=) rs147213897 0.00004
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00004
NM_000428.3(LTBP2):c.607C>T (p.Arg203Cys) rs777450651 0.00004
NM_000428.3(LTBP2):c.905C>T (p.Pro302Leu) rs557904436 0.00004
NM_001104631.2(PDE4D):c.*2369G>A rs796829320 0.00004
NM_001104631.2(PDE4D):c.*2999T>C rs200919800 0.00004
NM_001104631.2(PDE4D):c.*4513C>T rs886060703 0.00004
NM_001104631.2(PDE4D):c.*5000A>G rs886060702 0.00004
NM_001104631.2(PDE4D):c.*649T>G rs886060713 0.00004
NM_001104631.2(PDE4D):c.1542G>C (p.Leu514=) rs375617990 0.00004
NM_002734.5(PRKAR1A):c.*1085G>A rs994798970 0.00004
NM_002734.5(PRKAR1A):c.*2940G>A rs2086029597 0.00004
NM_002734.5(PRKAR1A):c.549+20A>G rs981055703 0.00004
NM_005359.6(SMAD4):c.*1386G>T rs553408737 0.00004
NM_005359.6(SMAD4):c.*170A>G rs1179236471 0.00004
NM_005359.6(SMAD4):c.*259T>C rs1178398899 0.00004
NM_005359.6(SMAD4):c.*3223A>G rs1202921300 0.00004
NM_005359.6(SMAD4):c.*837A>G rs886053897 0.00004
NM_005359.6(SMAD4):c.-333C>A rs886053888 0.00004
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016 0.00004
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys) rs749022707 0.00004
NM_014112.5(TRPS1):c.3724A>C (p.Met1242Leu) rs374209544 0.00004
NM_014694.4(ADAMTSL2):c.*566G>A rs886063652 0.00004
NM_014694.4(ADAMTSL2):c.1151G>A (p.Arg384Gln) rs1453028193 0.00004
NM_014694.4(ADAMTSL2):c.2089-10G>A rs886063645 0.00004
NM_014694.4(ADAMTSL2):c.2532C>T (p.Pro844=) rs997286816 0.00004
NM_014694.4(ADAMTSL2):c.258G>C (p.Gly86=) rs376297294 0.00004
NM_014694.4(ADAMTSL2):c.2631C>T (p.Asp877=) rs901152873 0.00004
NM_014694.4(ADAMTSL2):c.2689G>A (p.Val897Ile) rs886063649 0.00004
NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu) rs969732840 0.00004
NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr) rs764516811 0.00004
NM_014714.4(IFT140):c.-267G>C rs574385960 0.00004
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu) rs780657545 0.00004
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala) rs771450990 0.00004
NM_014714.4(IFT140):c.2044C>A (p.Gln682Lys) rs371064856 0.00004
NM_014714.4(IFT140):c.2066C>T (p.Ala689Val) rs147290396 0.00004
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe) rs141172132 0.00004
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.2492G>A (p.Arg831His) rs769046641 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val) rs145609033 0.00004
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu) rs2040655109 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.3193G>A (p.Glu1065Lys) rs373564205 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.329G>A (p.Arg110His) rs371077545 0.00004
NM_014714.4(IFT140):c.3408C>G (p.His1136Gln) rs374602347 0.00004
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) rs368713443 0.00004
NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly) rs774000109 0.00004
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) rs756683299 0.00004
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr) rs539917190 0.00004
NM_014714.4(IFT140):c.4036C>T (p.Arg1346Cys) rs556735183 0.00004
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His) rs144050063 0.00004
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala) rs756448762 0.00004
NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln) rs369058620 0.00004
NM_014714.4(IFT140):c.4182+15C>T rs374874160 0.00004
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) rs750381445 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser) rs201849591 0.00004
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala) rs983329531 0.00004
NM_014714.4(IFT140):c.628A>G (p.Met210Val) rs749432087 0.00004
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys) rs139141440 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_019023.5(PRMT7):c.1490G>A (p.Arg497Gln) rs753756119 0.00004
NM_024600.6(TMEM204):c.539C>T (p.Thr180Met) rs369025963 0.00004
NM_030957.4(ADAMTS10):c.*209C>T rs1471058531 0.00004
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) rs150203950 0.00004
NM_030957.4(ADAMTS10):c.1971C>T (p.Ala657=) rs557374103 0.00004
NM_030957.4(ADAMTS10):c.309C>T (p.Ser103=) rs1285176283 0.00004
NM_139057.4(ADAMTS17):c.*1130C>T rs377343119 0.00004
NM_139057.4(ADAMTS17):c.*856C>T rs549608045 0.00004
NM_139057.4(ADAMTS17):c.-7G>A rs371479108 0.00004
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=) rs557358714 0.00004
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=) rs753804023 0.00004
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=) rs150431950 0.00004
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys) rs202106289 0.00004
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn) rs551851234 0.00004
NM_000138.5(FBN1):c.*1375A>C rs1049315076 0.00003
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.*845C>T rs1022238055 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000428.3(LTBP2):c.1485G>A (p.Arg495=) rs756729691 0.00003
NM_000428.3(LTBP2):c.1972C>T (p.Arg658Trp) rs180947562 0.00003
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) rs201430837 0.00003
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862 0.00003
NM_000428.3(LTBP2):c.3606G>T (p.Leu1202=) rs373253770 0.00003
NM_000428.3(LTBP2):c.4159C>T (p.Arg1387Cys) rs747333533 0.00003
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg) rs764828666 0.00003
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024 0.00003
NM_000428.3(LTBP2):c.4623G>A (p.Glu1541=) rs137871407 0.00003
NM_000428.3(LTBP2):c.5046C>T (p.Pro1682=) rs1194291909 0.00003
NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=) rs764652187 0.00003
NM_000428.3(LTBP2):c.5215A>G (p.Ile1739Val) rs1435761349 0.00003
NM_001104631.2(PDE4D):c.*1649C>T rs530824932 0.00003
NM_001104631.2(PDE4D):c.*3418T>C rs1466070150 0.00003
NM_001104631.2(PDE4D):c.*421A>G rs886060715 0.00003
NM_001104631.2(PDE4D):c.1189-4C>G rs748827625 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_002734.5(PRKAR1A):c.*1487C>T rs886053314 0.00003
NM_002734.5(PRKAR1A):c.*299T>G rs569225886 0.00003
NM_005359.6(SMAD4):c.*2630A>G rs768569083 0.00003
NM_005359.6(SMAD4):c.*3506C>T rs886053913 0.00003
NM_005359.6(SMAD4):c.*363C>T rs939737709 0.00003
NM_005359.6(SMAD4):c.*5282T>G rs1389511065 0.00003
NM_005359.6(SMAD4):c.*850G>A rs886053898 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_014112.5(TRPS1):c.*2752_*2754del rs886062612 0.00003
NM_014112.5(TRPS1):c.1526C>T (p.Thr509Ile) rs774172927 0.00003
NM_014112.5(TRPS1):c.890G>A (p.Arg297His) rs376460318 0.00003
NM_014694.4(ADAMTSL2):c.255C>T (p.Pro85=) rs777495910 0.00003
NM_014694.4(ADAMTSL2):c.325G>A (p.Gly109Arg) rs199663387 0.00003
NM_014694.4(ADAMTSL2):c.708G>A (p.Pro236=) rs146958778 0.00003
NM_014694.4(ADAMTSL2):c.912G>A (p.Gly304=) rs758446604 0.00003
NM_014694.4(ADAMTSL2):c.979G>A (p.Glu327Lys) rs996554992 0.00003
NM_014714.4(IFT140):c.*23C>T rs752974569 0.00003
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met) rs780000949 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1330A>G (p.Met444Val) rs749322722 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 0.00003
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg) rs769632242 0.00003
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln) rs200440483 0.00003
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys) rs755748472 0.00003
NM_014714.4(IFT140):c.2510G>A (p.Arg837His) rs374429002 0.00003
NM_014714.4(IFT140):c.2584G>A (p.Ala862Thr) rs751629348 0.00003
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.2717G>A (p.Arg906His) rs754338217 0.00003
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) rs201100248 0.00003
NM_014714.4(IFT140):c.2743G>A (p.Ala915Thr) rs529397200 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 0.00003
NM_014714.4(IFT140):c.3302C>T (p.Ala1101Val) rs773291603 0.00003
NM_014714.4(IFT140):c.3350T>C (p.Leu1117Pro) rs749518919 0.00003
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu) rs952706482 0.00003
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala) rs149521576 0.00003
NM_014714.4(IFT140):c.3841C>G (p.Leu1281Val) rs1205008767 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.4136A>G (p.Tyr1379Cys) rs117433764 0.00003
NM_014714.4(IFT140):c.4148T>C (p.Val1383Ala) rs373499004 0.00003
NM_014714.4(IFT140):c.4162C>T (p.Arg1388Trp) rs760253028 0.00003
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu) rs1198844614 0.00003
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) rs145551546 0.00003
NM_014714.4(IFT140):c.601G>A (p.Glu201Lys) rs367721062 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg) rs574450870 0.00003
NM_019023.5(PRMT7):c.1078C>T (p.Arg360Cys) rs775110866 0.00003
NM_019023.5(PRMT7):c.1489C>T (p.Arg497Trp) rs1201730206 0.00003
NM_030957.4(ADAMTS10):c.*411C>T rs886054707 0.00003
NM_030957.4(ADAMTS10):c.-143G>C rs886054716 0.00003
NM_030957.4(ADAMTS10):c.1194C>T (p.Phe398=) rs782096562 0.00003
NM_030957.4(ADAMTS10):c.1794G>C (p.Thr598=) rs145420448 0.00003
NM_030957.4(ADAMTS10):c.2034+11C>T rs116541830 0.00003
NM_030957.4(ADAMTS10):c.592+8G>A rs201882173 0.00003
NM_139057.4(ADAMTS17):c.*1054T>C rs886050960 0.00003
NM_139057.4(ADAMTS17):c.*1749G>A rs757196506 0.00003
NM_139057.4(ADAMTS17):c.*2329T>C rs886050953 0.00003
NM_139057.4(ADAMTS17):c.*639G>A rs886050965 0.00003
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser) rs755587669 0.00003
NM_139057.4(ADAMTS17):c.1323-12C>T rs770627848 0.00003
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=) rs767077707 0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980 0.00003
NM_139057.4(ADAMTS17):c.2592-10C>T rs751012843 0.00003
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=) rs900832969 0.00003
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=) rs886050976 0.00003
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu) rs771992023 0.00003
NM_000138.5(FBN1):c.*1249A>G rs1456413075 0.00002
NM_000138.5(FBN1):c.*1398G>C rs886051234 0.00002
NM_000138.5(FBN1):c.*253A>T rs539383558 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn) rs749253325 0.00002
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val) rs1183556572 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His) rs369888822 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000428.3(LTBP2):c.*1170A>G rs886050749 0.00002
NM_000428.3(LTBP2):c.*1481C>T rs527271189 0.00002
NM_000428.3(LTBP2):c.*609A>C rs1323555762 0.00002
NM_000428.3(LTBP2):c.2041G>A (p.Gly681Ser) rs373539611 0.00002
NM_000428.3(LTBP2):c.3511G>A (p.Gly1171Ser) rs775487511 0.00002
NM_000428.3(LTBP2):c.5182G>A (p.Gly1728Ser) rs759870336 0.00002
NM_000428.3(LTBP2):c.5269T>C (p.Cys1757Arg) rs886050755 0.00002
NM_000428.3(LTBP2):c.5270G>T (p.Cys1757Phe) rs886050754 0.00002
NM_000428.3(LTBP2):c.5296G>T (p.Asp1766Tyr) rs772174775 0.00002
NM_001104631.2(PDE4D):c.-55C>T rs886060716 0.00002
NM_001104631.2(PDE4D):c.2259C>T (p.Gly753=) rs538879121 0.00002
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_005359.6(SMAD4):c.*1457C>T rs886053901 0.00002
NM_005359.6(SMAD4):c.*245T>C rs753295366 0.00002
NM_005359.6(SMAD4):c.*2675A>C rs1352805500 0.00002
NM_005359.6(SMAD4):c.*2682T>C rs557955183 0.00002
NM_005359.6(SMAD4):c.*2693A>G rs778780100 0.00002
NM_005359.6(SMAD4):c.*580A>G rs1421486746 0.00002
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_014112.5(TRPS1):c.601C>G (p.Gln201Glu) rs766826774 0.00002
NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys) rs983037163 0.00002
NM_014694.4(ADAMTSL2):c.1276+5C>G rs886063640 0.00002
NM_014694.4(ADAMTSL2):c.1719C>T (p.His573=) rs982225900 0.00002
NM_014694.4(ADAMTSL2):c.2551G>A (p.Glu851Lys) rs953137105 0.00002
NM_014694.4(ADAMTSL2):c.2799C>T (p.Cys933=) rs936095569 0.00002
NM_014714.3(IFT140):c.-328C>T rs528212874 0.00002
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg) rs1555491988 0.00002
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1242C>G (p.His414Gln) rs142143011 0.00002
NM_014714.4(IFT140):c.127G>A (p.Val43Met) rs150649451 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg) rs146049665 0.00002
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.1999C>G (p.Gln667Glu) rs753128503 0.00002
NM_014714.4(IFT140):c.2072A>T (p.Asp691Val) rs763569081 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2224G>A (p.Glu742Lys) rs1420709766 0.00002
NM_014714.4(IFT140):c.2312C>T (p.Ala771Val) rs764243187 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2464G>A (p.Val822Met) rs1157116921 0.00002
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr) rs1438111084 0.00002
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile) rs1396499118 0.00002
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys) rs778004145 0.00002
NM_014714.4(IFT140):c.2702G>A (p.Arg901His) rs374245105 0.00002
NM_014714.4(IFT140):c.2791C>T (p.Arg931Cys) rs778436557 0.00002
NM_014714.4(IFT140):c.3061G>A (p.Glu1021Lys) rs576458824 0.00002
NM_014714.4(IFT140):c.3092A>C (p.His1031Pro) rs973440348 0.00002
NM_014714.4(IFT140):c.3137G>A (p.Cys1046Tyr) rs752148006 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3347A>G (p.Asp1116Gly) rs768889794 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3502G>A (p.Glu1168Lys) rs780721001 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr) rs753550166 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala) rs1464318641 0.00002
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser) rs368380437 0.00002
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val) rs369161842 0.00002
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala) rs138311751 0.00002
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys) rs756142477 0.00002
NM_014714.4(IFT140):c.3995T>C (p.Leu1332Pro) rs902428763 0.00002
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met) rs557586568 0.00002
NM_014714.4(IFT140):c.4181C>T (p.Thr1394Met) rs771765849 0.00002
NM_014714.4(IFT140):c.4207C>T (p.Arg1403Trp) rs772400580 0.00002
NM_014714.4(IFT140):c.4232T>G (p.Met1411Arg) rs752233693 0.00002
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys) rs559314300 0.00002
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) rs766380874 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_014714.4(IFT140):c.902+3G>A rs776981733 0.00002
NM_030957.4(ADAMTS10):c.1085-5C>T rs781831794 0.00002
NM_030957.4(ADAMTS10):c.1285A>G (p.Asn429Asp) rs375444463 0.00002
NM_030957.4(ADAMTS10):c.1407G>A (p.Pro469=) rs149014496 0.00002
NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr) rs782053556 0.00002
NM_030957.4(ADAMTS10):c.518A>G (p.Glu173Gly) rs187757286 0.00002
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_139057.4(ADAMTS17):c.*200G>A rs548191022 0.00002
NM_139057.4(ADAMTS17):c.*2115C>A rs769848171 0.00002
NM_139057.4(ADAMTS17):c.*465G>A rs886050967 0.00002
NM_139057.4(ADAMTS17):c.2017-10G>C rs765531556 0.00002
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg) rs761591792 0.00002
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=) rs780909666 0.00002
NM_000138.4(FBN1):c.-319G>T rs886051256 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.*252G>A rs1407193739 0.00001
NM_000138.5(FBN1):c.*968G>A rs999275120 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu) rs776942896 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys) rs1335136151 0.00001
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys) rs1450795956 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser) rs372203315 0.00001
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr) rs1177856657 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 0.00001
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg) rs372404949 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val) rs370572503 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His) rs778219976 0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn) rs778145681 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val) rs560230585 0.00001
NM_000138.5(FBN1):c.4336+11G>A rs886051249 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu) rs1286993730 0.00001
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys) rs544990350 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met) rs757901214 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr) rs777539060 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del) rs886038964 0.00001
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150 0.00001
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) rs794728248 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His) rs773084230 0.00001
NM_000138.5(FBN1):c.6739+10C>T rs1179540326 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr) rs1166405014 0.00001
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met) rs763759308 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.796G>A (p.Val266Ile) rs201669595 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg) rs1220647446 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000428.3(LTBP2):c.*1776C>T rs1378655630 0.00001
NM_000428.3(LTBP2):c.*206C>T rs192723743 0.00001
NM_000428.3(LTBP2):c.*2112G>A rs949885665 0.00001
NM_000428.3(LTBP2):c.-21A>G rs765474184 0.00001
NM_000428.3(LTBP2):c.-46G>C rs886050761 0.00001
NM_000428.3(LTBP2):c.1097G>A (p.Arg366His) rs759632617 0.00001
NM_000428.3(LTBP2):c.1132A>C (p.Thr378Pro) rs200471693 0.00001
NM_000428.3(LTBP2):c.1613G>A (p.Arg538Gln) rs757892170 0.00001
NM_000428.3(LTBP2):c.2082G>A (p.Gln694=) rs757918162 0.00001
NM_000428.3(LTBP2):c.2449A>G (p.Met817Val) rs2087256544 0.00001
NM_000428.3(LTBP2):c.246G>A (p.Leu82=) rs748744542 0.00001
NM_000428.3(LTBP2):c.249G>A (p.Gln83=) rs779279335 0.00001
NM_000428.3(LTBP2):c.2588A>G (p.Asn863Ser) rs562124154 0.00001
NM_000428.3(LTBP2):c.2788+14G>A rs753628301 0.00001
NM_000428.3(LTBP2):c.2788+15C>G rs376663839 0.00001
NM_000428.3(LTBP2):c.3076A>G (p.Thr1026Ala) rs759008893 0.00001
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) rs745791013 0.00001
NM_000428.3(LTBP2):c.3558C>T (p.Cys1186=) rs757843416 0.00001
NM_000428.3(LTBP2):c.3589G>A (p.Gly1197Arg) rs760459796 0.00001
NM_000428.3(LTBP2):c.3645C>T (p.Ser1215=) rs767484358 0.00001
NM_000428.3(LTBP2):c.3851G>A (p.Arg1284His) rs201598003 0.00001
NM_000428.3(LTBP2):c.4370-14G>A rs750045564 0.00001
NM_000428.3(LTBP2):c.4535T>G (p.Leu1512Arg) rs769745393 0.00001
NM_000428.3(LTBP2):c.482G>A (p.Gly161Glu) rs1469851587 0.00001
NM_000428.3(LTBP2):c.5347G>A (p.Gly1783Arg) rs549156119 0.00001
NM_000428.3(LTBP2):c.713G>A (p.Arg238His) rs943163124 0.00001
NM_000428.3(LTBP2):c.970A>C (p.Arg324=) rs372209109 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_001104631.2(PDE4D):c.*131T>C rs953481477 0.00001
NM_001104631.2(PDE4D):c.*1379A>G rs886060708 0.00001
NM_001104631.2(PDE4D):c.*4981C>G rs1024653706 0.00001
NM_001104631.2(PDE4D):c.*780G>C rs886060712 0.00001
NM_001104631.2(PDE4D):c.1188+15A>G rs1747991195 0.00001
NM_001104631.2(PDE4D):c.1476T>G (p.Ile492Met) rs1379060456 0.00001
NM_001104631.2(PDE4D):c.1707C>T (p.Ile569=) rs371404288 0.00001
NM_001104631.2(PDE4D):c.1804C>T (p.Leu602Phe) rs761294824 0.00001
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp) rs759832724 0.00001
NM_001104631.2(PDE4D):c.225G>A (p.Pro75=) rs957259316 0.00001
NM_001104631.2(PDE4D):c.2260A>G (p.Ser754Gly) rs1290453118 0.00001
NM_001104631.2(PDE4D):c.2399G>T (p.Cys800Phe) rs779815130 0.00001
NM_001104631.2(PDE4D):c.794A>C (p.Lys265Thr) rs780848487 0.00001
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.4474+3G>T rs1286863443 0.00001
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001130144.3(LTBP3):c.3392C>T (p.Ala1131Val) rs1338933893 0.00001
NM_002734.5(PRKAR1A):c.*526G>A rs886053308 0.00001
NM_002734.5(PRKAR1A):c.*535T>G rs1329748321 0.00001
NM_002734.5(PRKAR1A):c.-11C>T rs1021510770 0.00001
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566 0.00001
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) rs1467886544 0.00001
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) rs746113372 0.00001
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys) rs1177674637 0.00001
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372 0.00001
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434 0.00001
NM_005359.6(SMAD4):c.*1277G>T rs886053900 0.00001
NM_005359.6(SMAD4):c.*1315G>A rs1006483392 0.00001
NM_005359.6(SMAD4):c.*1499T>G rs973805114 0.00001
NM_005359.6(SMAD4):c.*1608T>C rs1269516250 0.00001
NM_005359.6(SMAD4):c.*1786A>G rs1036389216 0.00001
NM_005359.6(SMAD4):c.*2354G>A rs886053905 0.00001
NM_005359.6(SMAD4):c.*2897G>A rs772039050 0.00001
NM_005359.6(SMAD4):c.*3186T>C rs886053911 0.00001
NM_005359.6(SMAD4):c.*332A>G rs975068806 0.00001
NM_005359.6(SMAD4):c.*3843G>A rs886053915 0.00001
NM_005359.6(SMAD4):c.*4707G>A rs1265840002 0.00001
NM_005359.6(SMAD4):c.*579G>T rs1013268028 0.00001
NM_005359.6(SMAD4):c.*5985A>G rs886053934 0.00001
NM_005359.6(SMAD4):c.*605A>C rs1910543316 0.00001
NM_005359.6(SMAD4):c.*6408C>T rs557992238 0.00001
NM_005359.6(SMAD4):c.*720G>A rs976054814 0.00001
NM_005359.6(SMAD4):c.-127G>A rs1348701370 0.00001
NM_005359.6(SMAD4):c.-128+12A>G rs886053891 0.00001
NM_005359.6(SMAD4):c.-504A>G rs900453280 0.00001
NM_005359.6(SMAD4):c.-531G>C rs988578345 0.00001
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520 0.00001
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) rs763510526 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) rs753358186 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr) rs774019004 0.00001
NM_014112.5(TRPS1):c.2647T>A (p.Tyr883Asn) rs1039993281 0.00001
NM_014112.5(TRPS1):c.2823G>A (p.Ser941=) rs774932870 0.00001
NM_014112.5(TRPS1):c.3846C>A (p.Asn1282Lys) rs1343541017 0.00001
NM_014112.5(TRPS1):c.3855A>C (p.Gln1285His) rs1335170890 0.00001
NM_014112.5(TRPS1):c.457G>A (p.Ala153Thr) rs570746805 0.00001
NM_014112.5(TRPS1):c.822C>G (p.Asp274Glu) rs374893780 0.00001
NM_014112.5(TRPS1):c.988A>G (p.Ile330Val) rs748358474 0.00001
NM_014694.4(ADAMTSL2):c.*280C>A rs886063650 0.00001
NM_014694.4(ADAMTSL2):c.*331G>A rs1404663146 0.00001
NM_014694.4(ADAMTSL2):c.*577G>A rs886063653 0.00001
NM_014694.4(ADAMTSL2):c.*635G>T rs886063656 0.00001
NM_014694.4(ADAMTSL2):c.-147C>G rs199857142 0.00001
NM_014694.4(ADAMTSL2):c.1242C>A (p.Ala414=) rs199582731 0.00001
NM_014694.4(ADAMTSL2):c.1764C>T (p.Tyr588=) rs986247139 0.00001
NM_014694.4(ADAMTSL2):c.286C>T (p.Arg96Trp) rs377040554 0.00001
NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp) rs776178041 0.00001
NM_014694.4(ADAMTSL2):c.541G>A (p.Val181Met) rs780731869 0.00001
NM_014694.4(ADAMTSL2):c.565G>A (p.Gly189Ser) rs751365777 0.00001
NM_014694.4(ADAMTSL2):c.751G>A (p.Ala251Thr) rs774653225 0.00001
NM_014694.4(ADAMTSL2):c.763+7A>G rs776668079 0.00001
NM_014694.4(ADAMTSL2):c.81C>T (p.Thr27=) rs776273406 0.00001
NM_014694.4(ADAMTSL2):c.954C>T (p.Asn318=) rs886063638 0.00001
NM_014714.4(IFT140):c.*207C>T rs1192536789 0.00001
NM_014714.4(IFT140):c.-221-6T>A rs886051772 0.00001
NM_014714.4(IFT140):c.-6T>A rs886051771 0.00001
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys) rs1279456870 0.00001
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu) rs776044753 0.00001
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile) rs777159234 0.00001
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg) rs1470456078 0.00001
NM_014714.4(IFT140):c.1156-6A>G rs769650753 0.00001
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys) rs755177677 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) rs770890983 0.00001
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile) rs2034748123 0.00001
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) rs758986711 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00001
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly) rs1030260747 0.00001
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) rs376263938 0.00001
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys) rs756882000 0.00001
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val) rs765322119 0.00001
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp) rs771838598 0.00001
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu) rs1322686700 0.00001
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) rs770727161 0.00001
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.1469A>G (p.His490Arg) rs537123341 0.00001
NM_014714.4(IFT140):c.147+6T>C rs1387119490 0.00001
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) rs767571875 0.00001
NM_014714.4(IFT140):c.1553C>T (p.Ser518Leu) rs761365882 0.00001
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr) rs765500124 0.00001
NM_014714.4(IFT140):c.157G>A (p.Val53Met) rs776811329 0.00001
NM_014714.4(IFT140):c.1585A>G (p.Ile529Val) rs145895414 0.00001
NM_014714.4(IFT140):c.1607T>C (p.Val536Ala) rs1206065799 0.00001
NM_014714.4(IFT140):c.1688C>T (p.Ala563Val) rs968524691 0.00001
NM_014714.4(IFT140):c.1708G>C (p.Gly570Arg) rs749278176 0.00001
NM_014714.4(IFT140):c.1741G>A (p.Gly581Arg) rs532971915 0.00001
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr) rs775630184 0.00001
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn) rs138674110 0.00001
NM_014714.4(IFT140):c.182C>T (p.Pro61Leu) rs757082667 0.00001
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp) rs2033705618 0.00001
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.1901+5G>A rs999790368 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.2009C>T (p.Pro670Leu) rs149845330 0.00001
NM_014714.4(IFT140):c.2012G>A (p.Arg671His) rs1372026395 0.00001
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys) rs778368172 0.00001
NM_014714.4(IFT140):c.2054G>A (p.Arg685His) rs370263158 0.00001
NM_014714.4(IFT140):c.2078T>C (p.Leu693Ser) rs370031319 0.00001
NM_014714.4(IFT140):c.2103A>G (p.Glu701=) rs1567373288 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp) rs201990219 0.00001
NM_014714.4(IFT140):c.2209G>A (p.Ala737Thr) rs1161696291 0.00001
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr) rs760427350 0.00001
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala) rs754474621 0.00001
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln) rs780086795 0.00001
NM_014714.4(IFT140):c.2303G>A (p.Cys768Tyr) rs145283562 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.2323G>A (p.Ala775Thr) rs771255082 0.00001
NM_014714.4(IFT140):c.2438A>C (p.Lys813Thr) rs1350594828 0.00001
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp) rs1199982756 0.00001
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln) rs536061072 0.00001
NM_014714.4(IFT140):c.2455G>A (p.Val819Met) rs766515079 0.00001
NM_014714.4(IFT140):c.2485C>T (p.His829Tyr) rs921816941 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2536G>A (p.Glu846Lys) rs896477215 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.2686G>A (p.Asp896Asn) rs775236964 0.00001
NM_014714.4(IFT140):c.2689C>T (p.Arg897Cys) rs769761601 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2714A>G (p.His905Arg) rs1255418645 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.2792G>A (p.Arg931His) rs200088700 0.00001
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys) rs768102481 0.00001
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro) rs145549969 0.00001
NM_014714.4(IFT140):c.2885C>T (p.Ala962Val) rs1371411242 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2912T>C (p.Met971Thr) rs761061336 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.2984G>T (p.Gly995Val) rs772919008 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys) rs375292299 0.00001
NM_014714.4(IFT140):c.3076G>A (p.Val1026Ile) rs779289178 0.00001
NM_014714.4(IFT140):c.3077T>C (p.Val1026Ala) rs755333071 0.00001
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val) rs757852837 0.00001
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His) rs577498082 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3223G>A (p.Glu1075Lys) rs936261766 0.00001
NM_014714.4(IFT140):c.3226G>A (p.Glu1076Lys) rs773620301 0.00001
NM_014714.4(IFT140):c.3251C>A (p.Ala1084Glu) rs757199524 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3348C>A (p.Asp1116Glu) rs1438729385 0.00001
NM_014714.4(IFT140):c.3359C>T (p.Thr1120Met) rs756215215 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys) rs774170824 0.00001
NM_014714.4(IFT140):c.3418G>A (p.Glu1140Lys) rs564935788 0.00001
NM_014714.4(IFT140):c.3453+4C>T rs367744951 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3512C>T (p.Ala1171Val) rs1158940284 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln) rs149837281 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 0.00001
NM_014714.4(IFT140):c.3601C>T (p.Arg1201Cys) rs368685855 0.00001
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn) rs771772194 0.00001
NM_014714.4(IFT140):c.3685G>A (p.Gly1229Arg) rs1203959141 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe) rs1325819285 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3928G>A (p.Ala1310Thr) rs1055889482 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) rs776522454 0.00001
NM_014714.4(IFT140):c.4040+4T>A rs1402787371 0.00001
NM_014714.4(IFT140):c.4073A>G (p.Lys1358Arg) rs763363588 0.00001
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg) rs907401737 0.00001
NM_014714.4(IFT140):c.4104C>A (p.Asp1368Glu) rs746684542 0.00001
NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly) rs1386350816 0.00001
NM_014714.4(IFT140):c.4182+4A>C rs1439771269 0.00001
NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp) rs1465721813 0.00001
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.4300A>G (p.Thr1434Ala) rs761959670 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.488G>T (p.Gly163Val) rs1368823319 0.00001
NM_014714.4(IFT140):c.489C>T (p.Gly163=) rs776597097 0.00001
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn) rs774439512 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.740T>C (p.Val247Ala) rs1231656459 0.00001
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser) rs1277927981 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.877A>T (p.Met293Leu) rs761441382 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg) rs200195216 0.00001
NM_019023.5(PRMT7):c.455G>A (p.Gly152Glu) rs369694211 0.00001
NM_030957.4(ADAMTS10):c.*330A>T rs1302375936 0.00001
NM_030957.4(ADAMTS10):c.*563C>A rs1426786259 0.00001
NM_030957.4(ADAMTS10):c.-233G>T rs1379274351 0.00001
NM_030957.4(ADAMTS10):c.1212C>T (p.Gly404=) rs1555740123 0.00001
NM_030957.4(ADAMTS10):c.1530C>G (p.Thr510=) rs886054715 0.00001
NM_030957.4(ADAMTS10):c.1880A>C (p.Lys627Thr) rs782712334 0.00001
NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr) rs886054714 0.00001
NM_030957.4(ADAMTS10):c.2239+10T>C rs782597342 0.00001
NM_030957.4(ADAMTS10):c.2433C>T (p.Leu811=) rs886054712 0.00001
NM_030957.4(ADAMTS10):c.487G>A (p.Gly163Ser) rs373876511 0.00001
NM_030957.4(ADAMTS10):c.517G>A (p.Glu173Lys) rs782396164 0.00001
NM_030957.4(ADAMTS10):c.644C>T (p.Pro215Leu) rs782497547 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_139057.4(ADAMTS17):c.*111C>T rs886050971 0.00001
NM_139057.4(ADAMTS17):c.*1348dup rs545574106 0.00001
NM_139057.4(ADAMTS17):c.*261G>A rs886050970 0.00001
NM_139057.4(ADAMTS17):c.*805G>A rs889232446 0.00001
NM_139057.4(ADAMTS17):c.*850C>T rs886050964 0.00001
NM_139057.4(ADAMTS17):c.-4T>C rs886050984 0.00001
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly) rs1442746480 0.00001
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=) rs558036408 0.00001
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=) rs1450190162 0.00001
NM_139057.4(ADAMTS17):c.1075+10G>C rs943576519 0.00001
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=) rs371229459 0.00001
NM_139057.4(ADAMTS17):c.1323-11G>A rs74442617 0.00001
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His) rs765427198 0.00001
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu) rs200960936 0.00001
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser) rs756454329 0.00001
NM_139057.4(ADAMTS17):c.1888+9A>C rs201219446 0.00001
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=) rs749551110 0.00001
NM_139057.4(ADAMTS17):c.2017-3T>C rs760792591 0.00001
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=) rs200809221 0.00001
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=) rs763171758 0.00001
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=) rs777524361 0.00001
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=) rs746354760 0.00001
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys) rs775321973 0.00001
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu) rs1375656495 0.00001
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr) rs144662002 0.00001
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=) rs1360871464 0.00001
NM_139057.4(ADAMTS17):c.616+7C>T rs886050978 0.00001
NM_139057.4(ADAMTS17):c.790-6T>C rs886050977 0.00001
NC_000016.10:g.(?_1485939)_(1511150_?)del
NC_000016.9:g.(?_1496632)_(1561171_?)dup
NC_000016.9:g.(?_1607916)_(1618355_?)dup
NC_000016.9:g.(?_1639586)_(1642609_?)del
NC_000016.9:g.(?_256302)_(4852572_?)dup
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.4(FBN1):c.-400A>T rs1890299170
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*107A>G rs562749473
NM_000138.5(FBN1):c.*1122C>T rs2042846511
NM_000138.5(FBN1):c.*1201T>G rs574181586
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2114T>A rs886051227
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*235T>C rs1597506366
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*2638T>C rs886051219
NM_000138.5(FBN1):c.*268G>C rs886051242
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*311G>A rs894774727
NM_000138.5(FBN1):c.*325T>C rs537909430
NM_000138.5(FBN1):c.*399C>A rs2042852375
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*724A>C rs886051239
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*948G>T rs749224599
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-108G>A rs1029606067
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.-70C>A rs886051253
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly) rs2043616665
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg) rs2043595247
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr) rs1489199503
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu) rs148076256
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala) rs761632843
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His) rs369745372
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg) rs1031572615
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly) rs2043513994
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr) rs2043467019
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4354C>T (p.Leu1452Phe)
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu) rs397515808
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.443-15C>A rs2044516377
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln) rs769588424
NM_000138.5(FBN1):c.5105A>G (p.Asp1702Gly) rs1294870005
NM_000138.5(FBN1):c.5177G>T (p.Gly1726Val)
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr) rs2043210566
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val) rs2043210544
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser) rs2043210015
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile) rs1555395768
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe) rs1221144366
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala) rs1484900122
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val) rs183690919
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser) rs2141237126
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp) rs2043050683
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) rs763165301
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu) rs776823384
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys) rs2043050244
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala) rs1375370990
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala) rs2044025163
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu) rs2043017212
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly) rs794728261
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile) rs2042946390
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln) rs2042946233
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg) rs2043995400
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg) rs2141353715
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe) rs1464168530
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala) rs781352764
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His) rs868087455
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys) rs1566919661
NM_000428.3(LTBP2):c.*1029G>A rs2086890935
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.*1302G>A rs191692241
NM_000428.3(LTBP2):c.*1302G>C rs191692241
NM_000428.3(LTBP2):c.*1393T>C rs2086887490
NM_000428.3(LTBP2):c.*147A>T rs886050753
NM_000428.3(LTBP2):c.*1518_*1520dup rs565536636
NM_000428.3(LTBP2):c.*1777A>G rs1419112516
NM_000428.3(LTBP2):c.*2236C>T rs753803515
NM_000428.3(LTBP2):c.*2266G>A rs886050747
NM_000428.3(LTBP2):c.*233A>G rs886050752
NM_000428.3(LTBP2):c.*2353T>C rs552983028
NM_000428.3(LTBP2):c.*2419C>T rs1595233261
NM_000428.3(LTBP2):c.*316C>G rs957387729
NM_000428.3(LTBP2):c.*373A>G rs886050751
NM_000428.3(LTBP2):c.*384G>C rs2086896920
NM_000428.3(LTBP2):c.*397C>A rs2086896748
NM_000428.3(LTBP2):c.*638T>G rs886050750
NM_000428.3(LTBP2):c.*742C>T rs913148674
NM_000428.3(LTBP2):c.-222C>G rs886050764
NM_000428.3(LTBP2):c.-33C>A rs886050760
NM_000428.3(LTBP2):c.-97C>T rs886050763
NM_000428.3(LTBP2):c.1199G>C (p.Cys400Ser) rs987914104
NM_000428.3(LTBP2):c.1382C>G (p.Pro461Arg) rs765689019
NM_000428.3(LTBP2):c.1531C>A (p.Pro511Thr) rs553562104
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.3(LTBP2):c.1656C>T (p.Gly552=) rs764120281
NM_000428.3(LTBP2):c.1745C>T (p.Ala582Val) rs886050759
NM_000428.3(LTBP2):c.1760C>T (p.Thr587Ile) rs886050758
NM_000428.3(LTBP2):c.1833G>A (p.Gly611=) rs775155970
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2388+8C>G rs201838800
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.2885T>C (p.Met962Thr) rs886050757
NM_000428.3(LTBP2):c.3114G>A (p.Gln1038=) rs886050756
NM_000428.3(LTBP2):c.3176C>A (p.Ala1059Asp) rs369840829
NM_000428.3(LTBP2):c.3634G>T (p.Gly1212Trp) rs200532538
NM_000428.3(LTBP2):c.3815G>A (p.Gly1272Asp) rs2087004341
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)
NM_000428.3(LTBP2):c.4232T>G (p.Met1411Arg) rs578210394
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala) rs758952168
NM_000428.3(LTBP2):c.4955G>T (p.Arg1652Leu) rs773510546
NM_000428.3(LTBP2):c.5181C>T (p.Ala1727=) rs372981316
NM_000428.3(LTBP2):c.804G>A (p.Pro268=) rs139052892
NM_000428.3(LTBP2):c.804_821del (p.265PQSPPA[1]) rs554570575
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) rs1600976255
NM_000516.7(GNAS):c.258-6C>G
NM_000516.7(GNAS):c.284T>A (p.Ile95Asn)
NM_000516.7(GNAS):c.313-3C>G
NM_000516.7(GNAS):c.380G>C (p.Arg127Thr)
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) rs2146184314
NM_000516.7(GNAS):c.470_472del (p.Glu157del) rs2146209517
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)
NM_000516.7(GNAS):c.950G>A (p.Arg317His) rs1369025856
NM_000516.7(GNAS):c.967G>C (p.Asp323His)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_001104631.2(PDE4D):c.*1020_*1022dup rs886060711
NM_001104631.2(PDE4D):c.*1446T>C rs886060707
NM_001104631.2(PDE4D):c.*1729G>C rs751797196
NM_001104631.2(PDE4D):c.*1778T>C rs1580002684
NM_001104631.2(PDE4D):c.*2028TAGA[3] rs780381459
NM_001104631.2(PDE4D):c.*2185T>G rs1742786887
NM_001104631.2(PDE4D):c.*2198C>T rs1742783371
NM_001104631.2(PDE4D):c.*2225C>T rs1742779838
NM_001104631.2(PDE4D):c.*2841A>C rs1038876803
NM_001104631.2(PDE4D):c.*3028A>G rs1742609985
NM_001104631.2(PDE4D):c.*3165_*3166del rs760712576
NM_001104631.2(PDE4D):c.*3210A>G rs1742583103
NM_001104631.2(PDE4D):c.*3325T>C rs1742565588
NM_001104631.2(PDE4D):c.*33dup rs10718401
NM_001104631.2(PDE4D):c.*348_*351del rs35684984
NM_001104631.2(PDE4D):c.*3562T>C rs886060706
NM_001104631.2(PDE4D):c.*3754_*3755dup rs34128632
NM_001104631.2(PDE4D):c.*3844G>A rs886060705
NM_001104631.2(PDE4D):c.*4274ATTTT[4] rs766825126
NM_001104631.2(PDE4D):c.*4524C>T rs1742364726
NM_001104631.2(PDE4D):c.*4529C>T rs1742363826
NM_001104631.2(PDE4D):c.*4727C>G rs1742320588
NM_001104631.2(PDE4D):c.*5201G>A rs1742226834
NM_001104631.2(PDE4D):c.*5413G>C rs538935097
NM_001104631.2(PDE4D):c.*5545C>A rs886060700
NM_001104631.2(PDE4D):c.*582dup rs886060714
NM_001104631.2(PDE4D):c.1006A>G (p.Thr336Ala)
NM_001104631.2(PDE4D):c.1038T>G (p.Ile346Met)
NM_001104631.2(PDE4D):c.1189-9dup rs368587062
NM_001104631.2(PDE4D):c.1274A>C (p.His425Pro) rs1747740719
NM_001104631.2(PDE4D):c.1333A>G (p.Ile445Val) rs1747451452
NM_001104631.2(PDE4D):c.1707+12A>C rs1744027001
NM_001104631.2(PDE4D):c.1774A>C (p.Lys592Gln) rs1743815247
NM_001104631.2(PDE4D):c.2355A>C (p.Glu785Asp) rs1743287865
NM_001104631.2(PDE4D):c.2366T>A (p.Val789Glu) rs1186516969
NM_001104631.2(PDE4D):c.430C>T (p.Pro144Ser)
NM_001104631.2(PDE4D):c.946C>T (p.Leu316Phe) rs2153344901
NM_001104631.2(PDE4D):c.997A>G (p.Ile333Val)
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001130144.3(LTBP3):c.1942C>T (p.Arg648Cys) rs763889449
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del) rs71036212
NM_001276290.1(PRKAR1A):c.973+3439G>T rs2086031493
NM_002181.4(IHH):c.1021G>A (p.Glu341Lys) rs2106307025
NM_002181.4(IHH):c.217C>T (p.Arg73Cys) rs2106310521
NM_002181.4(IHH):c.518C>A (p.Ala173Asp)
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) rs1574689480
NM_002181.4(IHH):c.851C>T (p.Thr284Met) rs1257383778
NM_002181.4(IHH):c.88C>A (p.Pro30Thr) rs1574689457
NM_002734.5(PRKAR1A):c.*1003C>T rs2085973222
NM_002734.5(PRKAR1A):c.*1111C>G rs2085976100
NM_002734.5(PRKAR1A):c.*1118dup rs886053312
NM_002734.5(PRKAR1A):c.*1168A>T rs886053313
NM_002734.5(PRKAR1A):c.*1640C>T rs2085991084
NM_002734.5(PRKAR1A):c.*1838A>T rs2085997664
NM_002734.5(PRKAR1A):c.*1839G>A rs886053316
NM_002734.5(PRKAR1A):c.*1842A>T rs886053317
NM_002734.5(PRKAR1A):c.*1949G>T rs1600501089
NM_002734.5(PRKAR1A):c.*2018C>T rs540185706
NM_002734.5(PRKAR1A):c.*2067T>C rs886053318
NM_002734.5(PRKAR1A):c.*2072G>A rs886053319
NM_002734.5(PRKAR1A):c.*2089A>G rs577964161
NM_002734.5(PRKAR1A):c.*2114G>A rs573817614
NM_002734.5(PRKAR1A):c.*2152T>C rs2086006345
NM_002734.5(PRKAR1A):c.*389T>G rs886053307
NM_002734.5(PRKAR1A):c.*560G>A rs1029548849
NM_002734.5(PRKAR1A):c.*587del rs398041821
NM_002734.5(PRKAR1A):c.*609C>G rs1307801222
NM_002734.5(PRKAR1A):c.*704T>G rs886053310
NM_002734.5(PRKAR1A):c.*812A>G rs116996069
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln) rs746486900
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr) rs1253034687
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) rs1308936763
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) rs773162575
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp) rs2085773408
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) rs2143324114
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_005359.6(SMAD4):c.*1036C>G rs1910555271
NM_005359.6(SMAD4):c.*1141A>G rs1910558915
NM_005359.6(SMAD4):c.*1177G>A rs886053899
NM_005359.6(SMAD4):c.*1502T>C rs1224074483
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1513A>T rs75142398
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*1801A>G rs886053904
NM_005359.6(SMAD4):c.*1837C>T
NM_005359.6(SMAD4):c.*2099G>A rs1037211183
NM_005359.6(SMAD4):c.*2215C>T rs1035348290
NM_005359.6(SMAD4):c.*241T>C rs886053896
NM_005359.6(SMAD4):c.*2461C>T rs886053906
NM_005359.6(SMAD4):c.*2561G>C rs1910600689
NM_005359.6(SMAD4):c.*2674A>G rs886053907
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*2941A>G rs1419101937
NM_005359.6(SMAD4):c.*3109T>A rs886053910
NM_005359.6(SMAD4):c.*3109T>C rs886053910
NM_005359.6(SMAD4):c.*3226G>C rs528878031
NM_005359.6(SMAD4):c.*3286A>T rs886053912
NM_005359.6(SMAD4):c.*3638T>G rs886053914
NM_005359.6(SMAD4):c.*3679A>G rs1910625936
NM_005359.6(SMAD4):c.*3746A>C rs1910627143
NM_005359.6(SMAD4):c.*3950A>G rs1910632230
NM_005359.6(SMAD4):c.*4085C>A rs886053917
NM_005359.6(SMAD4):c.*4987T>C rs188228460
NM_005359.6(SMAD4):c.*4991dup rs886053919
NM_005359.6(SMAD4):c.*5004_*5005dup rs113155703
NM_005359.6(SMAD4):c.*5530T>C rs886053921
NM_005359.6(SMAD4):c.*5535_*5540del rs147193925
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA rs886053923
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG rs886053924
NM_005359.6(SMAD4):c.*5535_*5549delinsG rs886053925
NM_005359.6(SMAD4):c.*5537GC[4] rs68159021
NM_005359.6(SMAD4):c.*5537GC[7] rs68159021
NM_005359.6(SMAD4):c.*5546CA[13] rs56017493
NM_005359.6(SMAD4):c.*5546CA[14] rs56017493
NM_005359.6(SMAD4):c.*5546CA[15] rs56017493
NM_005359.6(SMAD4):c.*5546CA[17] rs56017493
NM_005359.6(SMAD4):c.*5546CA[20] rs56017493
NM_005359.6(SMAD4):c.*5546CA[23] rs56017493
NM_005359.6(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.6(SMAD4):c.*5609T>G rs1910688039
NM_005359.6(SMAD4):c.*5631A>G rs1046084651
NM_005359.6(SMAD4):c.*5710T>A rs1910691490
NM_005359.6(SMAD4):c.*5757dup rs886053931
NM_005359.6(SMAD4):c.*5791C>T rs886053932
NM_005359.6(SMAD4):c.*5874C>T rs886053933
NM_005359.6(SMAD4):c.*6057G>T rs886053935
NM_005359.6(SMAD4):c.*6158GATT[1] rs886053936
NM_005359.6(SMAD4):c.*704G>C rs964306349
NM_005359.6(SMAD4):c.*745C>T rs1910546788
NM_005359.6(SMAD4):c.*936A>G rs1910552244
NM_005359.6(SMAD4):c.-233G>C rs886053890
NM_005359.6(SMAD4):c.-313C>A rs886053889
NM_005359.6(SMAD4):c.-3C>A rs886053892
NM_005359.6(SMAD4):c.-400C>A rs1410779875
NM_005359.6(SMAD4):c.-476C>A rs886053887
NM_005359.6(SMAD4):c.-506ACA[1] rs886053885
NM_005359.6(SMAD4):c.-69G>A rs772186355
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu) rs1568211184
NM_005359.6(SMAD4):c.1447+15C>A rs1910484768
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) rs760840557
NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn) rs1910523061
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile) rs1910526660
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg) rs1555685038
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg) rs1568206043
NM_005359.6(SMAD4):c.87T>G (p.Gly29=) rs886053893
NM_005359.6(SMAD4):c.908C>A (p.Pro303His) rs2144433151
NM_014112.5(TRPS1):c.*1843del rs886062619
NM_014112.5(TRPS1):c.*1983_*1984insG rs886062618
NM_014112.5(TRPS1):c.*2740del rs879823190
NM_014112.5(TRPS1):c.*3538del rs547899966
NM_014112.5(TRPS1):c.*4593AAAGG[1] rs755682849
NM_014112.5(TRPS1):c.*4741del rs886062604
NM_014112.5(TRPS1):c.*4754_*4761dup rs755990611
NM_014112.5(TRPS1):c.*4845ATA[1] rs775143556
NM_014112.5(TRPS1):c.-318CT[13] rs10546472
NM_014112.5(TRPS1):c.-318CT[9] rs10546472
NM_014112.5(TRPS1):c.-320_-319del rs199575103
NM_014112.5(TRPS1):c.-382del rs886062631
NM_014112.5(TRPS1):c.-393_-392dup rs759303878
NM_014112.5(TRPS1):c.1026C>A (p.Asn342Lys) rs1407182463
NM_014112.5(TRPS1):c.1040G>A (p.Arg347His)
NM_014112.5(TRPS1):c.1084G>A (p.Glu362Lys)
NM_014112.5(TRPS1):c.1150G>T (p.Val384Phe)
NM_014112.5(TRPS1):c.1154C>A (p.Ala385Glu)
NM_014112.5(TRPS1):c.1196T>G (p.Leu399Arg)
NM_014112.5(TRPS1):c.1217A>G (p.Asp406Gly)
NM_014112.5(TRPS1):c.1219T>A (p.Leu407Met) rs1817996176
NM_014112.5(TRPS1):c.1244C>T (p.Thr415Ile)
NM_014112.5(TRPS1):c.1333A>C (p.Ser445Arg)
NM_014112.5(TRPS1):c.1339T>C (p.Tyr447His)
NM_014112.5(TRPS1):c.1346G>A (p.Cys449Tyr)
NM_014112.5(TRPS1):c.1353T>G (p.Phe451Leu)
NM_014112.5(TRPS1):c.140A>G (p.Asn47Ser)
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)
NM_014112.5(TRPS1):c.1435G>A (p.Gly479Ser)
NM_014112.5(TRPS1):c.1558AAG[1] (p.Lys521del)
NM_014112.5(TRPS1):c.1615C>A (p.Gln539Lys)
NM_014112.5(TRPS1):c.1652C>T (p.Pro551Leu) rs2130491714
NM_014112.5(TRPS1):c.1654G>C (p.Asp552His)
NM_014112.5(TRPS1):c.1657G>C (p.Val553Leu) rs780734185
NM_014112.5(TRPS1):c.1663G>T (p.Val555Leu)
NM_014112.5(TRPS1):c.1697T>G (p.Leu566Arg)
NM_014112.5(TRPS1):c.1718C>T (p.Thr573Ile) rs2130491431
NM_014112.5(TRPS1):c.17A>G (p.Asn6Ser)
NM_014112.5(TRPS1):c.1846T>A (p.Ser616Thr) rs780551240
NM_014112.5(TRPS1):c.1877A>G (p.Lys626Arg)
NM_014112.5(TRPS1):c.1951G>A (p.Glu651Lys) rs1174923595
NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)
NM_014112.5(TRPS1):c.1975C>A (p.Gln659Lys)
NM_014112.5(TRPS1):c.1976AAG[1] (p.Glu660del)
NM_014112.5(TRPS1):c.2026A>G (p.Ser676Gly)
NM_014112.5(TRPS1):c.2031A>C (p.Lys677Asn)
NM_014112.5(TRPS1):c.2036A>T (p.His679Leu)
NM_014112.5(TRPS1):c.2107A>C (p.Ser703Arg)
NM_014112.5(TRPS1):c.2108G>A (p.Ser703Asn)
NM_014112.5(TRPS1):c.212A>G (p.Glu71Gly)
NM_014112.5(TRPS1):c.2183A>G (p.His728Arg)
NM_014112.5(TRPS1):c.2195A>G (p.Gln732Arg)
NM_014112.5(TRPS1):c.2213A>G (p.Asn738Ser)
NM_014112.5(TRPS1):c.2236A>C (p.Ile746Leu)
NM_014112.5(TRPS1):c.2251G>C (p.Glu751Gln) rs1207875402
NM_014112.5(TRPS1):c.2297A>C (p.Asp766Ala) rs1817588637
NM_014112.5(TRPS1):c.2397T>A (p.Ser799Arg)
NM_014112.5(TRPS1):c.2441G>A (p.Arg814Gln) rs146506752
NM_014112.5(TRPS1):c.2444G>T (p.Gly815Val) rs763124273
NM_014112.5(TRPS1):c.2469C>G (p.Ser823Arg)
NM_014112.5(TRPS1):c.2542G>A (p.Ala848Thr)
NM_014112.5(TRPS1):c.2572T>G (p.Leu858Val)
NM_014112.5(TRPS1):c.2601G>T (p.Gln867His) rs1817576456
NM_014112.5(TRPS1):c.2609C>T (p.Pro870Leu)
NM_014112.5(TRPS1):c.2627C>A (p.Ser876Tyr)
NM_014112.5(TRPS1):c.2638C>T (p.Pro880Ser)
NM_014112.5(TRPS1):c.2650C>T (p.Pro884Ser) rs2130443313
NM_014112.5(TRPS1):c.2683T>G (p.Ser895Ala) rs2130443107
NM_014112.5(TRPS1):c.2697A>T (p.Leu899Phe)
NM_014112.5(TRPS1):c.2700G>C (p.Arg900=) rs2130443039
NM_014112.5(TRPS1):c.2725T>C (p.Cys909Arg)
NM_014112.5(TRPS1):c.2735G>T (p.Cys912Phe)
NM_014112.5(TRPS1):c.2750C>T (p.Thr917Ile)
NM_014112.5(TRPS1):c.2753C>T (p.Ser918Phe)
NM_014112.5(TRPS1):c.275T>C (p.Val92Ala) rs1818352045
NM_014112.5(TRPS1):c.2769T>G (p.Asn923Lys) rs775374141
NM_014112.5(TRPS1):c.2788T>C (p.Cys930Arg) rs1812971696
NM_014112.5(TRPS1):c.2788T>G (p.Cys930Gly) rs1812971696
NM_014112.5(TRPS1):c.2792A>T (p.Asn931Ile)
NM_014112.5(TRPS1):c.2803C>T (p.Leu935Phe) rs1812970992
NM_014112.5(TRPS1):c.2891A>C (p.Lys964Thr) rs1812883227
NM_014112.5(TRPS1):c.2907G>C (p.Glu969Asp)
NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)
NM_014112.5(TRPS1):c.2975C>T (p.Pro992Leu)
NM_014112.5(TRPS1):c.3020G>A (p.Arg1007Lys)
NM_014112.5(TRPS1):c.3028C>G (p.Pro1010Ala)
NM_014112.5(TRPS1):c.304G>A (p.Glu102Lys)
NM_014112.5(TRPS1):c.3052G>A (p.Glu1018Lys)
NM_014112.5(TRPS1):c.3060G>T (p.Gln1020His)
NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro) rs1286729898
NM_014112.5(TRPS1):c.3176C>G (p.Thr1059Ser)
NM_014112.5(TRPS1):c.3185C>T (p.Pro1062Leu)
NM_014112.5(TRPS1):c.323G>A (p.Gly108Glu) rs1206269604
NM_014112.5(TRPS1):c.3317C>A (p.Pro1106Gln)
NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser) rs1812867470
NM_014112.5(TRPS1):c.3364G>A (p.Asp1122Asn)
NM_014112.5(TRPS1):c.3374G>A (p.Arg1125Gln)
NM_014112.5(TRPS1):c.341C>T (p.Pro114Leu)
NM_014112.5(TRPS1):c.3443C>G (p.Pro1148Arg)
NM_014112.5(TRPS1):c.3502G>T (p.Ala1168Ser)
NM_014112.5(TRPS1):c.3505G>T (p.Val1169Phe)
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly) rs986339998
NM_014112.5(TRPS1):c.3518A>G (p.Asn1173Ser)
NM_014112.5(TRPS1):c.3584A>G (p.Lys1195Arg)
NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)
NM_014112.5(TRPS1):c.361A>G (p.Arg121Gly) rs964024525
NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly) rs2129746312
NM_014112.5(TRPS1):c.3629T>G (p.Leu1210Trp) rs2129746217
NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)
NM_014112.5(TRPS1):c.37+7G>A
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)
NM_014112.5(TRPS1):c.3717T>A (p.Asp1239Glu)
NM_014112.5(TRPS1):c.3724A>T (p.Met1242Leu)
NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)
NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr) rs1812855223
NM_014112.5(TRPS1):c.3749A>C (p.His1250Pro) rs2129745482
NM_014112.5(TRPS1):c.3749A>G (p.His1250Arg)
NM_014112.5(TRPS1):c.3751G>A (p.Gly1251Ser) rs1234476401
NM_014112.5(TRPS1):c.3833G>C (p.Gly1278Ala)
NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs) rs1401148397
NM_014112.5(TRPS1):c.388G>C (p.Ala130Pro)
NM_014112.5(TRPS1):c.416A>G (p.Lys139Arg)
NM_014112.5(TRPS1):c.461G>A (p.Cys154Tyr)
NM_014112.5(TRPS1):c.49A>G (p.Lys17Glu)
NM_014112.5(TRPS1):c.504G>T (p.Lys168Asn)
NM_014112.5(TRPS1):c.570G>C (p.Leu190Phe)
NM_014112.5(TRPS1):c.586G>A (p.Ala196Thr)
NM_014112.5(TRPS1):c.587C>T (p.Ala196Val)
NM_014112.5(TRPS1):c.599C>T (p.Pro200Leu)
NM_014112.5(TRPS1):c.653T>G (p.Leu218Arg)
NM_014112.5(TRPS1):c.713A>G (p.Asn238Ser)
NM_014112.5(TRPS1):c.805C>G (p.Gln269Glu) rs770670680
NM_014112.5(TRPS1):c.895G>T (p.Val299Leu)
NM_014112.5(TRPS1):c.923A>G (p.Asn308Ser)
NM_014112.5(TRPS1):c.926C>T (p.Ser309Phe)
NM_014112.5(TRPS1):c.940T>A (p.Leu314Ile)
NM_014694.4(ADAMTSL2):c.*291C>T rs1588315349
NM_014694.4(ADAMTSL2):c.*304C>G rs1831200986
NM_014694.4(ADAMTSL2):c.*490C>T rs886063651
NM_014694.4(ADAMTSL2):c.*98C>T rs1831194918
NM_014694.4(ADAMTSL2):c.-90G>C rs1830058692
NM_014694.4(ADAMTSL2):c.1042G>C (p.Glu348Gln) rs538276028
NM_014694.4(ADAMTSL2):c.1074C>T (p.Ala358=) rs370480318
NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr) rs200378599
NM_014694.4(ADAMTSL2):c.1280G>A (p.Arg427His) rs540447841
NM_014694.4(ADAMTSL2):c.1321G>A (p.Glu441Lys)
NM_014694.4(ADAMTSL2):c.1355TCT[1] (p.Phe453del) rs886063641
NM_014694.4(ADAMTSL2):c.1623G>A (p.Ser541=) rs1170756141
NM_014694.4(ADAMTSL2):c.1713G>A (p.Ser571=) rs971630043
NM_014694.4(ADAMTSL2):c.1936G>A (p.Val646Ile) rs1831024149
NM_014694.4(ADAMTSL2):c.2089-7G>A rs1426097159
NM_014694.4(ADAMTSL2):c.2142G>A (p.Ser714=) rs11542920
NM_014694.4(ADAMTSL2):c.2245T>C (p.Cys749Arg)
NM_014694.4(ADAMTSL2):c.2506G>A (p.Glu836Lys) rs886063646
NM_014694.4(ADAMTSL2):c.2512G>A (p.Gly838Arg) rs886063647
NM_014694.4(ADAMTSL2):c.2518G>C (p.Ala840Pro) rs886063648
NM_014694.4(ADAMTSL2):c.2597C>T (p.Thr866Ile) rs1831166200
NM_014694.4(ADAMTSL2):c.2653G>A (p.Asp885Asn) rs561084765
NM_014694.4(ADAMTSL2):c.2737+13G>A rs930552062
NM_014694.4(ADAMTSL2):c.2839A>G (p.Arg947Gly) rs1389223791
NM_014694.4(ADAMTSL2):c.2849A>G (p.His950Arg) rs1831191982
NM_014694.4(ADAMTSL2):c.392A>G (p.Gln131Arg) rs761328410
NM_014694.4(ADAMTSL2):c.682+10A>G rs199776835
NM_014694.4(ADAMTSL2):c.707C>T (p.Pro236Leu)
NM_014694.4(ADAMTSL2):c.725T>A (p.Ile242Asn) rs2131111768
NM_014694.4(ADAMTSL2):c.804C>T (p.Asn268=) rs1830367278
NM_014694.4(ADAMTSL2):c.845C>T (p.Thr282Met) rs1830368432
NM_014714.4(IFT140):c.*158G>C rs886051707
NM_014714.4(IFT140):c.*226T>G rs886051706
NM_014714.4(IFT140):c.*278C>A rs886051705
NM_014714.4(IFT140):c.*91G>T rs2040116815
NM_014714.4(IFT140):c.-24C>G rs373009406
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu) rs2141840176
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser) rs750247837
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr) rs765706103
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg) rs1487413546
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu) rs2034866707
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg) rs2034865826
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn) rs747462746
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala) rs748786377
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala) rs1331143723
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
NM_014714.4(IFT140):c.1334A>G (p.His445Arg) rs2141817075
NM_014714.4(IFT140):c.1359+13G>A
NM_014714.4(IFT140):c.1359G>A (p.Lys453=) rs2034740047
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1380C>T (p.Asn460=) rs1339640657
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) rs190034269
NM_014714.4(IFT140):c.1406T>A (p.Leu469His) rs924912054
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr)
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) rs2034677396
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
NM_014714.4(IFT140):c.1432+5G>A
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_014714.4(IFT140):c.1465A>G (p.Met489Val) rs778765501
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp) rs2141751528
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala)
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala) rs2141751314
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
NM_014714.4(IFT140):c.150G>T (p.Gly50=) rs1257577001
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)
NM_014714.4(IFT140):c.1525-5_1525-3del rs757146365
NM_014714.4(IFT140):c.1528A>G (p.Thr510Ala)
NM_014714.4(IFT140):c.1529C>T (p.Thr510Ile)
NM_014714.4(IFT140):c.1535A>G (p.Lys512Arg) rs2141634655
NM_014714.4(IFT140):c.1541T>G (p.Leu514Arg) rs150903791
NM_014714.4(IFT140):c.1542CCT[1] (p.Leu516del)
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
NM_014714.4(IFT140):c.1582G>C (p.Asp528His)
NM_014714.4(IFT140):c.1641T>G (p.Asp547Glu)
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1652+4A>G
NM_014714.4(IFT140):c.1652+5A>T rs1332507276
NM_014714.4(IFT140):c.1663G>A (p.Ala555Thr) rs1318199702
NM_014714.4(IFT140):c.1669T>C (p.Cys557Arg)
NM_014714.4(IFT140):c.1677C>G (p.Cys559Trp) rs2033834541
NM_014714.4(IFT140):c.1679G>A (p.Arg560Lys)
NM_014714.4(IFT140):c.1682G>T (p.Ser561Ile)
NM_014714.4(IFT140):c.1703G>A (p.Gly568Glu) rs768821637
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.1717G>T (p.Ala573Ser) rs528350505
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro) rs2033831042
NM_014714.4(IFT140):c.1727G>C (p.Arg576Pro) rs373111085
NM_014714.4(IFT140):c.172G>A (p.Val58Ile)
NM_014714.4(IFT140):c.1732AGC[4] (p.Ser580dup) rs2141595569
NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn) rs1019259823
NM_014714.4(IFT140):c.1739G>C (p.Ser580Thr) rs1019259823
NM_014714.4(IFT140):c.173T>G (p.Val58Gly)
NM_014714.4(IFT140):c.1753A>C (p.Ser585Arg)
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys)
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr) rs751413638
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp) rs1431384802
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg) rs2033711810
NM_014714.4(IFT140):c.1792A>G (p.Lys598Glu) rs2141571032
NM_014714.4(IFT140):c.1816A>G (p.Met606Val) rs1319739285
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) rs886051769
NM_014714.4(IFT140):c.1854A>C (p.Gln618His) rs765410918
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
NM_014714.4(IFT140):c.1859A>C (p.Asp620Ala)
NM_014714.4(IFT140):c.1867G>C (p.Glu623Gln)
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met) rs891304446
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro) rs765411860
NM_014714.4(IFT140):c.1890A>G (p.Gln630=) rs2141569269
NM_014714.4(IFT140):c.1891G>A (p.Glu631Lys)
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln) rs777613696
NM_014714.4(IFT140):c.190G>C (p.Val64Leu)
NM_014714.4(IFT140):c.1937A>G (p.Tyr646Cys) rs762218450
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.1952A>G (p.His651Arg)
NM_014714.4(IFT140):c.1957T>C (p.Trp653Arg)
NM_014714.4(IFT140):c.1968_1969inv (p.Glu657Lys)
NM_014714.4(IFT140):c.1973C>T (p.Pro658Leu)
NM_014714.4(IFT140):c.1976G>T (p.Arg659Leu)
NM_014714.4(IFT140):c.1978C>A (p.Leu660Met) rs2033579292
NM_014714.4(IFT140):c.1989C>G (p.Cys663Trp) rs781117803
NM_014714.4(IFT140):c.1996G>A (p.Val666Met)
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
NM_014714.4(IFT140):c.2021C>T (p.Pro674Leu) rs1240961381
NM_014714.4(IFT140):c.2023C>A (p.Gln675Lys) rs1202626787
NM_014714.4(IFT140):c.2030C>T (p.Ala677Val) rs1339244784
NM_014714.4(IFT140):c.2056G>A (p.Ala686Thr)
NM_014714.4(IFT140):c.2067+4C>G rs111785408
NM_014714.4(IFT140):c.2068-3C>G rs2033444839
NM_014714.4(IFT140):c.2089TTC[1] (p.Phe698del) rs768883274
NM_014714.4(IFT140):c.208C>T (p.His70Tyr) rs2142042420
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser) rs1343501211
NM_014714.4(IFT140):c.2101G>A (p.Glu701Lys)
NM_014714.4(IFT140):c.2105A>G (p.Glu702Gly) rs2033441889
NM_014714.4(IFT140):c.2111G>A (p.Gly704Asp)
NM_014714.4(IFT140):c.2123A>G (p.His708Arg) rs2033440134
NM_014714.4(IFT140):c.2125G>A (p.Glu709Lys)
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg)
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
NM_014714.4(IFT140):c.2158C>G (p.Leu720Val) rs756482228
NM_014714.4(IFT140):c.2174T>C (p.Val725Ala)
NM_014714.4(IFT140):c.2177C>A (p.Pro726His) rs1417500285
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln) rs149202904
NM_014714.4(IFT140):c.2194A>G (p.Arg732Gly) rs2033435038
NM_014714.4(IFT140):c.2199G>A (p.Lys733=) rs752216380
NM_014714.4(IFT140):c.2200C>T (p.Pro734Ser) rs1298153861
NM_014714.4(IFT140):c.2204A>G (p.Glu735Gly)
NM_014714.4(IFT140):c.2221G>A (p.Asp741Asn)
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile) rs2033203151
NM_014714.4(IFT140):c.2273C>T (p.Pro758Leu)
NM_014714.4(IFT140):c.2287G>A (p.Val763Met)
NM_014714.4(IFT140):c.2315C>T (p.Thr772Ile)
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2359G>C (p.Asp787His)
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val) rs1555486589
NM_014714.4(IFT140):c.2368G>A (p.Glu790Lys)
NM_014714.4(IFT140):c.2369A>T (p.Glu790Val)
NM_014714.4(IFT140):c.236G>T (p.Gly79Val)
NM_014714.4(IFT140):c.2372C>T (p.Ala791Val) rs758544371
NM_014714.4(IFT140):c.2375T>C (p.Phe792Ser) rs2033194698
NM_014714.4(IFT140):c.2392A>G (p.Ile798Val)
NM_014714.4(IFT140):c.2399+6G>A
NM_014714.4(IFT140):c.2400-3del rs1396232913
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys) rs1471379682
NM_014714.4(IFT140):c.2426G>A (p.Arg809His)
NM_014714.4(IFT140):c.2426G>C (p.Arg809Pro) rs780661065
NM_014714.4(IFT140):c.2432G>T (p.Cys811Phe) rs1358171484
NM_014714.4(IFT140):c.2434G>T (p.Val812Leu) rs569828117
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala) rs2035846064
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr) rs2141185138
NM_014714.4(IFT140):c.2479A>G (p.Met827Val) rs372141549
NM_014714.4(IFT140):c.2480T>C (p.Met827Thr)
NM_014714.4(IFT140):c.2494G>A (p.Gly832Arg)
NM_014714.4(IFT140):c.2500C>G (p.Arg834Gly)
NM_014714.4(IFT140):c.2504C>G (p.Ala835Gly) rs368232950
NM_014714.4(IFT140):c.2519A>G (p.Glu840Gly)
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly) rs755089438
NM_014714.4(IFT140):c.251A>T (p.Glu84Val)
NM_014714.4(IFT140):c.2526G>C (p.Glu842Asp)
NM_014714.4(IFT140):c.2527C>A (p.Pro843Thr) rs1567331532
NM_014714.4(IFT140):c.2530G>A (p.Glu844Lys)
NM_014714.4(IFT140):c.2542C>A (p.Arg848Ser)
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
NM_014714.4(IFT140):c.2564A>G (p.Gln855Arg)
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
NM_014714.4(IFT140):c.2577+3G>A
NM_014714.4(IFT140):c.2577+4A>T rs2141184162
NM_014714.4(IFT140):c.2578-13C>T rs886051723
NM_014714.4(IFT140):c.2585C>T (p.Ala862Val)
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
NM_014714.4(IFT140):c.2612G>A (p.Arg871His) rs905240853
NM_014714.4(IFT140):c.2617G>C (p.Asp873His) rs560840162
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser) rs775517181
NM_014714.4(IFT140):c.2636A>G (p.Tyr879Cys)
NM_014714.4(IFT140):c.2648G>T (p.Gly883Val)
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2671G>A (p.Val891Ile)
NM_014714.4(IFT140):c.2681A>G (p.His894Arg)
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) rs774192784
NM_014714.4(IFT140):c.2682_2683insA (p.His895fs) rs776988446
NM_014714.4(IFT140):c.2704A>C (p.Ser902Arg)
NM_014714.4(IFT140):c.2704A>G (p.Ser902Gly) rs1433656005
NM_014714.4(IFT140):c.2709C>T (p.Thr903=) rs1460776036
NM_014714.4(IFT140):c.2744C>T (p.Ala915Val)
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) rs548992623
NM_014714.4(IFT140):c.2764A>G (p.Ser922Gly)
NM_014714.4(IFT140):c.2800G>T (p.Val934Leu)
NM_014714.4(IFT140):c.2812C>G (p.Leu938Val) rs2141175204
NM_014714.4(IFT140):c.2818G>A (p.Glu940Lys) rs2141175146
NM_014714.4(IFT140):c.2825T>C (p.Leu942Pro)
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2839C>A (p.Leu947Ile)
NM_014714.4(IFT140):c.2859G>T (p.Lys953Asn) rs2040934250
NM_014714.4(IFT140):c.2864A>C (p.Lys955Thr) rs2141174966
NM_014714.4(IFT140):c.2866A>G (p.Thr956Ala) rs780823837
NM_014714.4(IFT140):c.2875C>T (p.Arg959Trp)
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) rs759898401
NM_014714.4(IFT140):c.2905G>A (p.Gly969Ser) rs1343112452
NM_014714.4(IFT140):c.2907C>T (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2909A>T (p.Glu970Val) rs2141172567
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.2926C>A (p.His976Asn)
NM_014714.4(IFT140):c.2947G>C (p.Asp983His)
NM_014714.4(IFT140):c.2951A>G (p.His984Arg) rs2141172218
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
NM_014714.4(IFT140):c.2966G>A (p.Arg989His)
NM_014714.4(IFT140):c.2966G>C (p.Arg989Pro)
NM_014714.4(IFT140):c.2990T>C (p.Val997Ala)
NM_014714.4(IFT140):c.2993A>G (p.Gln998Arg) rs2141171936
NM_014714.4(IFT140):c.2997+3A>G rs2040628786
NM_014714.4(IFT140):c.2997+6G>T
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.3006A>G (p.Gln1002=)
NM_014714.4(IFT140):c.3016G>C (p.Glu1006Gln) rs375292299
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile)
NM_014714.4(IFT140):c.3031G>A (p.Ala1011Thr)
NM_014714.4(IFT140):c.3032C>T (p.Ala1011Val)
NM_014714.4(IFT140):c.3038C>T (p.Ser1013Phe) rs2141171017
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) rs1596461586
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3053G>A (p.Arg1018His)
NM_014714.4(IFT140):c.3053G>T (p.Arg1018Leu)
NM_014714.4(IFT140):c.3059A>G (p.Tyr1020Cys)
NM_014714.4(IFT140):c.3068AGG[2] (p.Glu1025del)
NM_014714.4(IFT140):c.3080G>C (p.Gly1027Ala)
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu) rs774547622
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn)
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu) rs772739900
NM_014714.4(IFT140):c.3164T>C (p.Leu1055Pro)
NM_014714.4(IFT140):c.316A>G (p.Ile106Val) rs1465706247
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val) rs779603114
NM_014714.4(IFT140):c.3188C>T (p.Ser1063Phe)
NM_014714.4(IFT140):c.3190C>G (p.Pro1064Ala)
NM_014714.4(IFT140):c.3201G>A (p.Met1067Ile)
NM_014714.4(IFT140):c.3203T>C (p.Ile1068Thr)
NM_014714.4(IFT140):c.3207G>T (p.Glu1069Asp)
NM_014714.4(IFT140):c.3212C>T (p.Ala1071Val) rs2040595876
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3223GAG[1] (p.Glu1076del)
NM_014714.4(IFT140):c.3243G>A (p.Met1081Ile)
NM_014714.4(IFT140):c.3245A>T (p.Asp1082Val) rs781204391
NM_014714.4(IFT140):c.3251C>T (p.Ala1084Val)
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe)
NM_014714.4(IFT140):c.3269A>G (p.Lys1090Arg) rs1007805827
NM_014714.4(IFT140):c.3270+19_3270+20inv
NM_014714.4(IFT140):c.3272C>G (p.Ala1091Gly)
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
NM_014714.4(IFT140):c.3322G>A (p.Val1108Met) rs2040587996
NM_014714.4(IFT140):c.3323T>C (p.Val1108Ala)
NM_014714.4(IFT140):c.3364G>A (p.Asp1122Asn)
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu) rs781672845
NM_014714.4(IFT140):c.3373C>T (p.Leu1125Phe) rs1596302305
NM_014714.4(IFT140):c.3377T>C (p.Leu1126Pro)
NM_014714.4(IFT140):c.3385T>C (p.Cys1129Arg) rs886051709
NM_014714.4(IFT140):c.3394TTC[1] (p.Phe1133del) rs2040585460
NM_014714.4(IFT140):c.3404A>G (p.Glu1135Gly) rs2141164034
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu) rs1567326635
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile)
NM_014714.4(IFT140):c.3422G>A (p.Arg1141Lys)
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3430_3431delinsAT (p.Glu1144Met)
NM_014714.4(IFT140):c.3453+5G>A
NM_014714.4(IFT140):c.3454T>C (p.Tyr1152His)
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
NM_014714.4(IFT140):c.3496A>G (p.Ile1166Val)
NM_014714.4(IFT140):c.3497T>C (p.Ile1166Thr) rs1294933019
NM_014714.4(IFT140):c.3499A>G (p.Thr1167Ala) rs1433941335
NM_014714.4(IFT140):c.3500C>T (p.Thr1167Ile)
NM_014714.4(IFT140):c.3507G>C (p.Glu1169Asp) rs1480279504
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3521T>C (p.Met1174Thr)
NM_014714.4(IFT140):c.3526G>T (p.Val1176Leu)
NM_014714.4(IFT140):c.3535G>T (p.Asp1179Tyr) rs1332512487
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu) rs149837281
NM_014714.4(IFT140):c.3587C>T (p.Ala1196Val) rs760756337
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys) rs1457067377
NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu) rs147292597
NM_014714.4(IFT140):c.3617A>G (p.His1206Arg)
NM_014714.4(IFT140):c.3644C>G (p.Ala1215Gly) rs139871912
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys) rs751861503
NM_014714.4(IFT140):c.3670G>A (p.Ala1224Thr) rs373377650
NM_014714.4(IFT140):c.3682T>C (p.Ser1228Pro) rs991385327
NM_014714.4(IFT140):c.369+4A>G rs752104483
NM_014714.4(IFT140):c.3692C>T (p.Thr1231Met)
NM_014714.4(IFT140):c.370-12G>A rs2141917000
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr) rs376953801
NM_014714.4(IFT140):c.3739T>C (p.Tyr1247His)
NM_014714.4(IFT140):c.3749C>T (p.Ala1250Val)
NM_014714.4(IFT140):c.3758A>G (p.Tyr1253Cys) rs2141144779
NM_014714.4(IFT140):c.3770T>C (p.Leu1257Pro) rs1470679979
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met) rs557923123
NM_014714.4(IFT140):c.3811G>A (p.Gly1271Ser)
NM_014714.4(IFT140):c.3833C>A (p.Ala1278Asp) rs147280047
NM_014714.4(IFT140):c.3833C>T (p.Ala1278Val)
NM_014714.4(IFT140):c.3862G>A (p.Ala1288Thr)
NM_014714.4(IFT140):c.3862G>C (p.Ala1288Pro)
NM_014714.4(IFT140):c.3869C>T (p.Ala1290Val)
NM_014714.4(IFT140):c.3874G>A (p.Val1292Met) rs2141143375
NM_014714.4(IFT140):c.3877_3879del (p.Glu1293del) rs1413533372
NM_014714.4(IFT140):c.3879G>T (p.Glu1293Asp) rs2040472652
NM_014714.4(IFT140):c.3898T>C (p.Tyr1300His)
NM_014714.4(IFT140):c.3935A>G (p.Lys1312Arg)
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.3953A>G (p.Lys1318Arg) rs2141142851
NM_014714.4(IFT140):c.3955G>A (p.Ala1319Thr) rs2141142844
NM_014714.4(IFT140):c.3956C>T (p.Ala1319Val) rs2040470204
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala) rs2141916604
NM_014714.4(IFT140):c.4022G>C (p.Arg1341Thr) rs1054102092
NM_014714.4(IFT140):c.4027A>G (p.Ile1343Val) rs771070134
NM_014714.4(IFT140):c.4040+3G>A
NM_014714.4(IFT140):c.4040+3G>T rs779462689
NM_014714.4(IFT140):c.4058C>G (p.Pro1353Arg) rs146666187
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys) rs2035235540
NM_014714.4(IFT140):c.4077G>T (p.Gln1359His) rs1387346251
NM_014714.4(IFT140):c.4093G>A (p.Glu1365Lys)
NM_014714.4(IFT140):c.4121G>A (p.Arg1374His) rs778892732
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val) rs1258339035
NM_014714.4(IFT140):c.4126G>A (p.Gly1376Arg)
NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
NM_014714.4(IFT140):c.4136A>T (p.Tyr1379Phe)
NM_014714.4(IFT140):c.413T>G (p.Val138Gly)
NM_014714.4(IFT140):c.4145T>A (p.Leu1382Gln) rs1454067964
NM_014714.4(IFT140):c.4150G>T (p.Glu1384Ter)
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) rs142668269
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) rs142668269
NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)
NM_014714.4(IFT140):c.4179G>C (p.Gln1393His) rs2040419700
NM_014714.4(IFT140):c.4180_4182+12del
NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys) rs2040132765
NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)
NM_014714.4(IFT140):c.41C>T (p.Ala14Val) rs2036120849
NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln) rs2040132121
NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)
NM_014714.4(IFT140):c.4207del (p.Arg1403fs)
NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del) rs754312950
NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu) rs2141089845
NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)
NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)
NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr) rs752233693
NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)
NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)
NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln) rs781658694
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu) rs886051708
NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)
NM_014714.4(IFT140):c.4330A>G (p.Met1444Val) rs547804955
NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)
NM_014714.4(IFT140):c.4341del (p.Arg1448fs) rs1209319873
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys) rs1386131080
NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?) rs2040120370
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser) rs148462329
NM_014714.4(IFT140):c.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) rs191927317
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg) rs772378665
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) rs975918006
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) rs756417017
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg) rs2035217954
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg) rs767008075
NM_014714.4(IFT140):c.583C>A (p.Leu195Met)
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro) rs764851284
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg) rs2141912122
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del)
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg) rs2035215270
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro) rs2141882480
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala) rs2141882480
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile) rs146302646
NM_014714.4(IFT140):c.644A>G (p.His215Arg)
NM_014714.4(IFT140):c.645C>G (p.His215Gln) rs2035078296
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
NM_014714.4(IFT140):c.718_720del (p.Glu240del)
NM_014714.4(IFT140):c.72C>A (p.His24Gln) rs2036118371
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) rs1408766601
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.774G>A (p.Thr258=) rs746955795
NM_014714.4(IFT140):c.775G>A (p.Val259Met) rs1392612759
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) rs2035068981
NM_014714.4(IFT140):c.810+6T>C rs2035068589
NM_014714.4(IFT140):c.810+9G>T rs886051767
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
NM_014714.4(IFT140):c.844G>C (p.Asp282His)
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) rs563162000
NM_014714.4(IFT140):c.864C>T (p.Gly288=)
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) rs1452513681
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
NM_014714.4(IFT140):c.903-5T>A
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) rs2141852274
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.94G>A (p.Val32Ile) rs770234866
NM_014714.4(IFT140):c.94G>C (p.Val32Leu)
NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
NM_014714.4(IFT140):c.989T>C (p.Val330Ala) rs2034932329
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) rs202131370
NM_019023.5(PRMT7):c.-218-3C>G
NM_019023.5(PRMT7):c.1651-8G>A
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His)
NM_019023.5(PRMT7):c.1915T>C (p.Cys639Arg)
NM_019023.5(PRMT7):c.1949A>G (p.Tyr650Cys) rs1033540334
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn)
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu)
NM_019023.5(PRMT7):c.282+3A>G rs2082913032
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys)
NM_030957.4(ADAMTS10):c.*157G>A rs2042332746
NM_030957.4(ADAMTS10):c.*322C>T rs886054708
NM_030957.4(ADAMTS10):c.*447G>T rs1385837919
NM_030957.4(ADAMTS10):c.*456del rs34057037
NM_030957.4(ADAMTS10):c.*456dup rs34057037
NM_030957.4(ADAMTS10):c.*47A>G rs905913217
NM_030957.4(ADAMTS10):c.*578C>A rs2042325419
NM_030957.4(ADAMTS10):c.*81G>C rs886054709
NM_030957.4(ADAMTS10):c.*81G>T rs886054709
NM_030957.4(ADAMTS10):c.*85dup rs576948646
NM_030957.4(ADAMTS10):c.-99-7C>G rs907764817
NM_030957.4(ADAMTS10):c.1084+6C>T
NM_030957.4(ADAMTS10):c.133A>G (p.Thr45Ala)
NM_030957.4(ADAMTS10):c.146A>G (p.His49Arg) rs1555742346
NM_030957.4(ADAMTS10):c.1480-4G>T rs368465218
NM_030957.4(ADAMTS10):c.1520G>A (p.Arg507Gln)
NM_030957.4(ADAMTS10):c.1568C>T (p.Thr523Met) rs782308360
NM_030957.4(ADAMTS10):c.1655C>G (p.Pro552Arg) rs1216168299
NM_030957.4(ADAMTS10):c.1659G>C (p.Trp553Cys)
NM_030957.4(ADAMTS10):c.1797+11C>A rs2042533385
NM_030957.4(ADAMTS10):c.1901-13C>A rs782114199
NM_030957.4(ADAMTS10):c.198C>T (p.Arg66=) rs149789969
NM_030957.4(ADAMTS10):c.2005G>T (p.Val669Leu) rs144596955
NM_030957.4(ADAMTS10):c.2220C>T (p.Asn740=) rs886054713
NM_030957.4(ADAMTS10):c.2361C>G (p.Ser787Arg)
NM_030957.4(ADAMTS10):c.2404-9T>C rs2042432536
NM_030957.4(ADAMTS10):c.24C>A (p.Leu8=) rs1555742491
NM_030957.4(ADAMTS10):c.2530+9G>A rs782625211
NM_030957.4(ADAMTS10):c.2632G>A (p.Ala878Thr) rs1197418432
NM_030957.4(ADAMTS10):c.292C>T (p.Leu98=) rs2042706336
NM_030957.4(ADAMTS10):c.3002G>A (p.Arg1001His) rs2042408557
NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=) rs886054711
NM_030957.4(ADAMTS10):c.3202+13C>T rs886054710
NM_030957.4(ADAMTS10):c.335T>C (p.Leu112Pro) rs782581897
NM_030957.4(ADAMTS10):c.557G>T (p.Arg186Leu) rs781891774
NM_030957.4(ADAMTS10):c.629G>A (p.Arg210Gln)
NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg) rs1555741490
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) rs782449192
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser)
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly) rs2086410482
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu) rs747636634
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)
NM_139057.4(ADAMTS17):c.*1011_*1016del rs879713910
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1016C>T rs886050962
NM_139057.4(ADAMTS17):c.*1024T>G rs886050961
NM_139057.4(ADAMTS17):c.*1213G>C rs982642681
NM_139057.4(ADAMTS17):c.*1218T>C rs886050958
NM_139057.4(ADAMTS17):c.*1278A>G rs2060245859
NM_139057.4(ADAMTS17):c.*1431TCC[1] rs757487035
NM_139057.4(ADAMTS17):c.*1642G>A rs577902130
NM_139057.4(ADAMTS17):c.*1708G>C rs769909152
NM_139057.4(ADAMTS17):c.*1759G>C rs539776359
NM_139057.4(ADAMTS17):c.*1780G>A rs886050957
NM_139057.4(ADAMTS17):c.*181C>T rs760184660
NM_139057.4(ADAMTS17):c.*1899del rs138786481
NM_139057.4(ADAMTS17):c.*2013T>A rs2727194
NM_139057.4(ADAMTS17):c.*2015T>C rs956479865
NM_139057.4(ADAMTS17):c.*2142GTT[1] rs886050956
NM_139057.4(ADAMTS17):c.*2172T>C rs191191512
NM_139057.4(ADAMTS17):c.*2186T>C rs943727216
NM_139057.4(ADAMTS17):c.*2196C>T rs528240967
NM_139057.4(ADAMTS17):c.*221G>A rs1286406738
NM_139057.4(ADAMTS17):c.*2290C>T rs374783295
NM_139057.4(ADAMTS17):c.*2292C>T rs371938855
NM_139057.4(ADAMTS17):c.*2305T>C rs2060219977
NM_139057.4(ADAMTS17):c.*2355G>C rs564194386
NM_139057.4(ADAMTS17):c.*2472C>G rs138099553
NM_139057.4(ADAMTS17):c.*2472C>T rs138099553
NM_139057.4(ADAMTS17):c.*2501C>T rs2060214433
NM_139057.4(ADAMTS17):c.*2532G>A rs886050951
NM_139057.4(ADAMTS17):c.*2600C>T rs2060211133
NM_139057.4(ADAMTS17):c.*260C>T rs747343009
NM_139057.4(ADAMTS17):c.*2626_*2628del rs543559051
NM_139057.4(ADAMTS17):c.*2645C>T rs114391483
NM_139057.4(ADAMTS17):c.*2652A>T rs994363579
NM_139057.4(ADAMTS17):c.*2678T>G rs2060208704
NM_139057.4(ADAMTS17):c.*2738G>C rs535694449
NM_139057.4(ADAMTS17):c.*290C>A rs1016206521
NM_139057.4(ADAMTS17):c.*2934G>T rs1241129749
NM_139057.4(ADAMTS17):c.*293G>A rs886050969
NM_139057.4(ADAMTS17):c.*376T>G rs2060267332
NM_139057.4(ADAMTS17):c.*481G>A rs1046788827
NM_139057.4(ADAMTS17):c.*498A>T rs2573651
NM_139057.4(ADAMTS17):c.*612G>T rs574728895
NM_139057.4(ADAMTS17):c.*620T>C rs1164434838
NM_139057.4(ADAMTS17):c.*857G>A rs552737711
NM_139057.4(ADAMTS17):c.*901G>A rs962309056
NM_139057.4(ADAMTS17):c.*963C>T rs563070394
NM_139057.4(ADAMTS17):c.-19dup rs150933882
NM_139057.4(ADAMTS17):c.-20G>A rs569251254
NM_139057.4(ADAMTS17):c.-20G>C rs569251254
NM_139057.4(ADAMTS17):c.-37C>T rs1419969888
NM_139057.4(ADAMTS17):c.-62C>A rs886050985
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg) rs886050975
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=) rs958960649
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=) rs767074176
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met) rs1244171699
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg) rs770984984
NM_139057.4(ADAMTS17):c.1924_1929dup (p.Lys642_Glu643dup) rs533437573
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His) rs145922030
NM_139057.4(ADAMTS17):c.1996T>G (p.Cys666Gly) rs2141096474
NM_139057.4(ADAMTS17):c.2138-13A>G rs2032359159
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr) rs946108501
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu) rs886050981
NM_139057.4(ADAMTS17):c.2295+3A>G
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser) rs770794109
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu) rs144007074
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg) rs545996605
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg) rs201676815
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462
NM_139057.4(ADAMTS17):c.2592-9G>T rs373353462
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro) rs886050974
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=) rs139105066
NM_139057.4(ADAMTS17):c.2796+5G>A rs2141345957
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=) rs886050973
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys) rs149434438
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=) rs886050972
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=) rs141373128
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=) rs144817994
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=) rs1426438937
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=) rs1596563056
NM_139057.4(ADAMTS17):c.79+3A>C rs2046376517
NM_139057.4(ADAMTS17):c.80-10C>G rs886050983
NM_212472.2(PRKAR1A):c.-200T>A rs534001445
Single allele

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