ClinVar Miner

List of variants reported as likely benign for acromelic dysplasia

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1175
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
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_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313 0.02947
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_002734.5(PRKAR1A):c.*1837G>T rs201999343 0.01775
NM_030957.4(ADAMTS10):c.-198A>G rs4530289 0.01712
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=) rs34094363 0.01557
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_139057.4(ADAMTS17):c.*474C>T rs117821788 0.01156
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01012
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=) rs369962641 0.01009
NM_030957.4(ADAMTS10):c.*171G>A rs79238375 0.00991
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500 0.00956
NM_002181.4(IHH):c.819C>T (p.Pro273=) rs61747697 0.00915
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813 0.00832
NM_002734.5(PRKAR1A):c.*138C>A rs28730842 0.00772
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_002734.5(PRKAR1A):c.*759C>T rs62087489 0.00683
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_139057.4(ADAMTS17):c.*420G>A rs556966662 0.00622
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_139057.4(ADAMTS17):c.*1234G>A rs543905312 0.00574
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) rs146689929 0.00538
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.*119C>T rs146119949 0.00526
NM_139057.4(ADAMTS17):c.*880C>T rs187416809 0.00515
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013 0.00500
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_030957.4(ADAMTS10):c.2016C>T (p.Cys672=) rs10414102 0.00419
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795 0.00381
NM_000428.3(LTBP2):c.3527-3C>A rs138194436 0.00364
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_002734.5(PRKAR1A):c.*151A>G rs11540571 0.00340
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821 0.00329
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620 0.00307
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797 0.00290
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_005359.6(SMAD4):c.*4867dup rs571773833 0.00286
NM_005359.6(SMAD4):c.*2968del rs574286440 0.00280
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00273
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490 0.00273
NM_001130144.3(LTBP3):c.2107+13C>T rs201699516 0.00263
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994 0.00220
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=) rs112185875 0.00213
NM_000428.3(LTBP2):c.*2363A>G rs190461277 0.00211
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301 0.00203
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_014694.4(ADAMTSL2):c.387G>A (p.Thr129=) rs146802900 0.00185
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830 0.00181
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974 0.00176
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 0.00168
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) rs147432147 0.00163
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764 0.00161
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_000138.5(FBN1):c.*1252A>G rs566419089 0.00150
NM_014694.4(ADAMTSL2):c.279G>A (p.Thr93=) rs62637570 0.00150
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_030957.4(ADAMTS10):c.1588-11C>T rs112970413 0.00142
NM_000138.5(FBN1):c.*2398G>T rs377530465 0.00135
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00125
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) rs112545558 0.00122
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909 0.00121
NM_014112.5(TRPS1):c.355A>T (p.Thr119Ser) rs201373462 0.00117
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) rs144726977 0.00104
NM_000138.5(FBN1):c.*2024A>G rs558488257 0.00103
NM_139057.4(ADAMTS17):c.*960G>A rs180868548 0.00101
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_002734.5(PRKAR1A):c.*847A>G rs144299673 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_014112.5(TRPS1):c.*2537del rs570702506 0.00088
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His) rs34813273 0.00086
NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly) rs140941344 0.00083
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=) rs148387007 0.00075
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_014714.4(IFT140):c.2578-12C>G rs370111842 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_139057.4(ADAMTS17):c.-9C>T rs192272127 0.00067
NM_139057.4(ADAMTS17):c.*2747T>G rs183457005 0.00066
NM_030957.4(ADAMTS10):c.1798-6C>T rs186791828 0.00064
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) rs148023627 0.00059
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=) rs199732237 0.00056
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_014714.4(IFT140):c.3141+14G>A rs372698828 0.00051
NM_014714.4(IFT140):c.4273C>A (p.Arg1425=) rs138697817 0.00051
NM_001104631.2(PDE4D):c.*4675G>A rs536451907 0.00050
NM_014112.5(TRPS1):c.1083C>T (p.Thr361=) rs143724802 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
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_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_014112.5(TRPS1):c.1171A>C (p.Asn391His) rs368184534 0.00045
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
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_000428.3(LTBP2):c.*945T>C rs374130664 0.00042
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg) rs369004633 0.00041
NM_014714.4(IFT140):c.2110G>A (p.Gly704Ser) rs150745099 0.00040
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_014112.5(TRPS1):c.2701-9_2701-8del rs368655299 0.00038
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_001104631.1(PDE4D):c.-126A>G rs543720951 0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_014714.4(IFT140):c.1359+20G>A rs374488263 0.00035
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000127.3(EXT1):c.-642G>A rs534171475 0.00032
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.*1720C>T rs557301792 0.00029
NM_014112.5(TRPS1):c.3202G>A (p.Val1068Ile) rs200107935 0.00029
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_000138.5(FBN1):c.*1949T>C rs534577080 0.00026
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly) rs201770819 0.00026
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser) rs200964070 0.00026
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) rs538114464 0.00025
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000428.3(LTBP2):c.*1427A>G rs187052141 0.00024
NM_014112.5(TRPS1):c.2793C>T (p.Asn931=) rs376942817 0.00024
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312 0.00023
NM_014714.4(IFT140):c.2768+17C>T rs373280850 0.00023
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 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.4144C>T (p.Leu1382=) rs139458566 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_014112.5(TRPS1):c.1008A>G (p.Thr336=) rs749317963 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.*959C>T rs141144986 0.00019
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536 0.00018
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370 0.00018
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_014714.4(IFT140):c.1524+8G>A rs369331038 0.00017
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) rs146506752 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_014714.4(IFT140):c.3718G>A (p.Val1240Met) rs114611454 0.00016
NM_014714.4(IFT140):c.3874-17G>A rs376776316 0.00016
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735 0.00016
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_014112.5(TRPS1):c.515A>G (p.Lys172Arg) rs775998078 0.00014
NM_014112.5(TRPS1):c.89A>C (p.Glu30Ala) rs763955674 0.00014
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) rs370562505 0.00014
NM_014714.4(IFT140):c.194C>T (p.Ala65Val) rs142257947 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_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu) rs201699015 0.00013
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln) rs151198844 0.00013
NM_014714.4(IFT140):c.2388G>A (p.Lys796=) rs761593016 0.00013
NM_014714.4(IFT140):c.2583C>T (p.Asp861=) rs576060920 0.00013
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln) rs199769798 0.00012
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) rs372669687 0.00011
NM_014112.5(TRPS1):c.1416C>T (p.His472=) rs186297164 0.00011
NM_014112.5(TRPS1):c.2796G>A (p.Ala932=) rs539395441 0.00011
NM_014112.5(TRPS1):c.2988G>A (p.Arg996=) rs202158991 0.00011
NM_014112.5(TRPS1):c.3051C>T (p.Tyr1017=) rs140839419 0.00011
NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys) rs190186284 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.4125C>T (p.Ile1375=) rs543475833 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_014714.4(IFT140):c.1010-19A>G rs369000362 0.00010
NM_014714.4(IFT140):c.1146G>A (p.Thr382=) rs200975046 0.00010
NM_014714.4(IFT140):c.2399+12G>A rs762486311 0.00010
NM_014714.4(IFT140):c.768G>A (p.Leu256=) rs775181670 0.00010
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504 0.00009
NM_002734.5(PRKAR1A):c.502+12_502+13del rs764075585 0.00009
NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg) rs201029096 0.00009
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00009
NM_014714.4(IFT140):c.1995C>T (p.Ala665=) rs200653061 0.00009
NM_014714.4(IFT140):c.2199+19C>T rs773530788 0.00009
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) rs368232950 0.00009
NM_014714.4(IFT140):c.2528C>T (p.Pro843Leu) rs774864079 0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00009
NM_014714.4(IFT140):c.2741G>A (p.Ser914Asn) rs369848545 0.00009
NM_014714.4(IFT140):c.2768+9G>A rs780735055 0.00009
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr) rs769420945 0.00009
NM_014714.4(IFT140):c.3661-7T>C rs371103301 0.00009
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 0.00009
NM_014714.4(IFT140):c.4260G>C (p.Val1420=) rs200228341 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys) rs201642067 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) rs771294438 0.00008
NM_014714.4(IFT140):c.210C>T (p.His70=) rs145160997 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.3466C>T (p.Leu1156=) rs28718802 0.00008
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=) rs747655543 0.00008
NM_014714.4(IFT140):c.4183-20T>C rs371461352 0.00008
NM_030957.4(ADAMTS10):c.68C>T (p.Thr23Met) rs376131325 0.00008
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=) rs538479771 0.00007
NM_014112.5(TRPS1):c.2470C>T (p.Leu824=) rs201981301 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.1428T>A (p.Ser476Arg) rs771030841 0.00007
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro) rs200765913 0.00007
NM_014714.4(IFT140):c.1989C>T (p.Cys663=) rs781117803 0.00007
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) rs148240226 0.00007
NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln) rs558519810 0.00007
NM_014714.4(IFT140):c.4298G>A (p.Arg1433His) rs138420849 0.00007
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046 0.00006
NM_014112.5(TRPS1):c.342G>A (p.Pro114=) rs200131404 0.00006
NM_014714.4(IFT140):c.1401C>T (p.Phe467=) rs368477699 0.00006
NM_014714.4(IFT140):c.201G>T (p.Leu67=) rs138991209 0.00006
NM_014714.4(IFT140):c.2517G>A (p.Ala839=) rs767699979 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.4131C>T (p.Asp1377=) rs751862515 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.811-16T>C rs367948949 0.00006
NM_014714.4(IFT140):c.903-17G>T rs377542255 0.00006
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) rs780666037 0.00006
NM_139057.4(ADAMTS17):c.3128-6C>T rs148559983 0.00006
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=) rs369906474 0.00005
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr) rs749222606 0.00005
NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser) rs369619683 0.00005
NM_014112.5(TRPS1):c.2487T>A (p.Pro829=) rs202162026 0.00005
NM_014694.4(ADAMTSL2):c.310-10C>T rs571169702 0.00005
NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu) rs201033016 0.00005
NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu) rs755959856 0.00005
NM_014714.4(IFT140):c.1896T>A (p.Thr632=) rs141276689 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2544C>T (p.Arg848=) rs371008462 0.00005
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3015C>T (p.Asn1005=) rs767092157 0.00005
NM_014714.4(IFT140):c.3087G>A (p.Ala1029=) rs139078766 0.00005
NM_014714.4(IFT140):c.3660+14G>A rs571494292 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu) rs555799779 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_014714.4(IFT140):c.634+12T>C rs747805287 0.00005
NM_014714.4(IFT140):c.695C>T (p.Thr232Met) rs373258796 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_014112.5(TRPS1):c.3399C>T (p.Ser1133=) rs369411533 0.00004
NM_014714.4(IFT140):c.1020C>T (p.Ala340=) rs777539406 0.00004
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) rs369998823 0.00004
NM_014714.4(IFT140):c.1310C>T (p.Ala437Val) rs199881467 0.00004
NM_014714.4(IFT140):c.1509A>G (p.Gln503=) rs139385840 0.00004
NM_014714.4(IFT140):c.1653-4G>A rs750603473 0.00004
NM_014714.4(IFT140):c.1740C>T (p.Ser580=) rs1314445049 0.00004
NM_014714.4(IFT140):c.174C>T (p.Val58=) rs769612994 0.00004
NM_014714.4(IFT140):c.183G>A (p.Pro61=) rs751515057 0.00004
NM_014714.4(IFT140):c.189G>A (p.Arg63=) rs759832443 0.00004
NM_014714.4(IFT140):c.2068-12T>G rs377366035 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.2433C>T (p.Cys811=) rs756784917 0.00004
NM_014714.4(IFT140):c.2505G>A (p.Ala835=) rs147300509 0.00004
NM_014714.4(IFT140):c.2562G>A (p.Thr854=) rs750695023 0.00004
NM_014714.4(IFT140):c.2577+13C>T rs775827558 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.291G>A (p.Thr97=) rs774795976 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) rs372233286 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.3454-18A>G rs373222244 0.00004
NM_014714.4(IFT140):c.3454-6T>C rs765039853 0.00004
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) rs759998867 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.708G>A (p.Leu236=) rs200076064 0.00004
NM_014714.4(IFT140):c.811-10C>T rs781747985 0.00004
NM_014714.4(IFT140):c.811-19C>T rs568239635 0.00004
NM_014714.4(IFT140):c.811-7C>T rs751897595 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu) rs201586136 0.00004
NM_000138.5(FBN1):c.*1619T>A rs374297351 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) rs753621663 0.00003
NM_005359.5(SMAD4):c.*6588C>G rs186324049 0.00003
NM_014112.5(TRPS1):c.1541G>T (p.Ser514Ile) rs558232936 0.00003
NM_014112.5(TRPS1):c.1743C>G (p.Pro581=) rs886043582 0.00003
NM_014112.5(TRPS1):c.1843T>C (p.Leu615=) rs372922863 0.00003
NM_014112.5(TRPS1):c.2465C>G (p.Ala822Gly) rs777464547 0.00003
NM_014112.5(TRPS1):c.3148A>T (p.Ile1050Phe) rs181035264 0.00003
NM_014112.5(TRPS1):c.3477C>T (p.Thr1159=) rs565639429 0.00003
NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser) rs780885595 0.00003
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00003
NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys) rs200349591 0.00003
NM_014714.4(IFT140):c.126C>T (p.Ser42=) rs753351192 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1359+9C>T rs371341236 0.00003
NM_014714.4(IFT140):c.1368C>T (p.Val456=) rs561657958 0.00003
NM_014714.4(IFT140):c.1432+18G>A rs374262499 0.00003
NM_014714.4(IFT140):c.1479C>T (p.Asn493=) rs373191298 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2116C>T (p.Leu706=) rs201118178 0.00003
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) rs774892063 0.00003
NM_014714.4(IFT140):c.2229G>A (p.Val743=) rs770298357 0.00003
NM_014714.4(IFT140):c.2304C>T (p.Cys768=) rs373923984 0.00003
NM_014714.4(IFT140):c.2577+9C>T rs764603088 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.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.3453+14G>A rs376739986 0.00003
NM_014714.4(IFT140):c.3645C>T (p.Ala1215=) rs778438102 0.00003
NM_014714.4(IFT140):c.3714G>A (p.Ala1238=) rs142224579 0.00003
NM_014714.4(IFT140):c.4158C>T (p.Tyr1386=) rs111494974 0.00003
NM_014714.4(IFT140):c.4263C>T (p.Asp1421=) rs138436199 0.00003
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=) rs768372140 0.00003
NM_014714.4(IFT140):c.438C>T (p.His146=) rs564988341 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014714.4(IFT140):c.684C>T (p.Ser228=) rs765361599 0.00003
NM_014714.4(IFT140):c.696G>A (p.Thr232=) rs144087201 0.00003
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp) rs750666346 0.00002
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489 0.00002
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331 0.00002
NM_002734.5(PRKAR1A):c.-6-7C>T rs373646911 0.00002
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048 0.00002
NM_014112.5(TRPS1):c.1892A>G (p.Gln631Arg) rs759189183 0.00002
NM_014112.5(TRPS1):c.217C>T (p.His73Tyr) rs572735161 0.00002
NM_014112.5(TRPS1):c.2240C>A (p.Ser747Tyr) rs867076249 0.00002
NM_014112.5(TRPS1):c.270C>T (p.Ser90=) rs76812525 0.00002
NM_014112.5(TRPS1):c.343C>T (p.His115Tyr) rs748128322 0.00002
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1359+10G>A rs765870382 0.00002
NM_014714.4(IFT140):c.1359+15G>A rs371515559 0.00002
NM_014714.4(IFT140):c.156C>T (p.Cys52=) rs759512538 0.00002
NM_014714.4(IFT140):c.1770+13C>T rs750396462 0.00002
NM_014714.4(IFT140):c.1809T>C (p.Asp603=) rs779610741 0.00002
NM_014714.4(IFT140):c.1830C>T (p.Thr610=) rs201049966 0.00002
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.2109C>T (p.His703=) rs375957506 0.00002
NM_014714.4(IFT140):c.2199+10C>T rs753778878 0.00002
NM_014714.4(IFT140):c.2199+13G>A rs760589428 0.00002
NM_014714.4(IFT140):c.2200-17G>C rs750260483 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2313C>T (p.Ala771=) rs763029487 0.00002
NM_014714.4(IFT140):c.2322C>T (p.Asp774=) rs546631348 0.00002
NM_014714.4(IFT140):c.2691C>T (p.Arg897=) rs776456361 0.00002
NM_014714.4(IFT140):c.2745C>T (p.Ala915=) rs770674501 0.00002
NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu) rs575485883 0.00002
NM_014714.4(IFT140):c.2997+9C>G rs1596304034 0.00002
NM_014714.4(IFT140):c.3030G>A (p.Leu1010=) rs775322966 0.00002
NM_014714.4(IFT140):c.312C>T (p.Ala104=) rs138263672 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3270+7G>T rs773532379 0.00002
NM_014714.4(IFT140):c.3360G>A (p.Thr1120=) rs750862050 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.357G>C (p.Leu119=) rs2035838651 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3660+12C>T rs755939601 0.00002
NM_014714.4(IFT140):c.369+13G>A rs775756737 0.00002
NM_014714.4(IFT140):c.369+14C>T rs766013600 0.00002
NM_014714.4(IFT140):c.423G>A (p.Thr141=) rs769704872 0.00002
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=) rs774573860 0.00002
NM_014714.4(IFT140):c.600C>T (p.His200=) rs371783984 0.00002
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu) rs758547276 0.00002
NM_014714.4(IFT140):c.819G>A (p.Leu273=) rs763445046 0.00002
NM_014714.4(IFT140):c.822C>T (p.Ser274=) rs200604057 0.00002
NM_014714.4(IFT140):c.882C>T (p.Ala294=) rs768675467 0.00002
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_001110556.2(FLNA):c.2316C>A (p.Val772=) rs2067723075 0.00001
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_014112.5(TRPS1):c.-470T>C rs567007790 0.00001
NM_014112.5(TRPS1):c.1239G>A (p.Lys413=) rs568714002 0.00001
NM_014112.5(TRPS1):c.1572C>T (p.Ser524=) rs765625635 0.00001
NM_014112.5(TRPS1):c.1644C>T (p.Ser548=) rs1237070966 0.00001
NM_014112.5(TRPS1):c.1875C>T (p.Val625=) rs752692840 0.00001
NM_014112.5(TRPS1):c.2637C>T (p.Leu879=) rs559046751 0.00001
NM_014112.5(TRPS1):c.2706T>C (p.Arg902=) rs754260940 0.00001
NM_014112.5(TRPS1):c.3105C>T (p.Val1035=) rs753629655 0.00001
NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile) rs368980249 0.00001
NM_014112.5(TRPS1):c.3594G>A (p.Thr1198=) rs185725906 0.00001
NM_014112.5(TRPS1):c.846C>T (p.Asn282=) rs369477249 0.00001
NM_014112.5(TRPS1):c.88G>A (p.Glu30Lys) rs371442998 0.00001
NM_014714.4(IFT140):c.1009+11C>T rs761927308 0.00001
NM_014714.4(IFT140):c.1009+19G>A rs1193125251 0.00001
NM_014714.4(IFT140):c.1029C>T (p.Thr343=) rs556379159 0.00001
NM_014714.4(IFT140):c.1072C>T (p.Leu358=) rs2034869421 0.00001
NM_014714.4(IFT140):c.1077C>T (p.Gly359=) rs757481448 0.00001
NM_014714.4(IFT140):c.1125C>T (p.Thr375=) rs771792178 0.00001
NM_014714.4(IFT140):c.1155+8C>T rs757107689 0.00001
NM_014714.4(IFT140):c.1156-18T>C rs1433160902 0.00001
NM_014714.4(IFT140):c.1156-8A>C rs1468612818 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1294C>T (p.Leu432=) rs1482041898 0.00001
NM_014714.4(IFT140):c.1302G>A (p.Thr434=) rs1045923210 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00001
NM_014714.4(IFT140):c.1326C>T (p.Thr442=) rs748014543 0.00001
NM_014714.4(IFT140):c.1338C>T (p.Ile446=) rs781745982 0.00001
NM_014714.4(IFT140):c.1359+17C>T rs767520111 0.00001
NM_014714.4(IFT140):c.1365T>C (p.Ala455=) rs771279803 0.00001
NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln) rs776789813 0.00001
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) rs1312262491 0.00001
NM_014714.4(IFT140):c.1433-15C>T rs749683523 0.00001
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.1524+17C>G rs764602004 0.00001
NM_014714.4(IFT140):c.1527G>A (p.Gly509=) rs777713841 0.00001
NM_014714.4(IFT140):c.1554G>A (p.Ser518=) rs774109456 0.00001
NM_014714.4(IFT140):c.1563G>A (p.Glu521=) rs146356094 0.00001
NM_014714.4(IFT140):c.1602G>C (p.Leu534=) rs778106074 0.00001
NM_014714.4(IFT140):c.1611G>C (p.Gly537=) rs745415176 0.00001
NM_014714.4(IFT140):c.1644T>C (p.Leu548=) rs761146898 0.00001
NM_014714.4(IFT140):c.1652+20A>C rs1300522608 0.00001
NM_014714.4(IFT140):c.1707G>A (p.Val569=) rs1463801449 0.00001
NM_014714.4(IFT140):c.1837G>A (p.Asp613Asn) rs200208525 0.00001
NM_014714.4(IFT140):c.1856T>C (p.Ile619Thr) rs759612242 0.00001
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.1938T>C (p.Tyr646=) rs752166799 0.00001
NM_014714.4(IFT140):c.1965G>A (p.Gln655=) rs571683311 0.00001
NM_014714.4(IFT140):c.1971G>A (p.Glu657=) rs1044429755 0.00001
NM_014714.4(IFT140):c.1974C>T (p.Pro658=) rs768412481 0.00001
NM_014714.4(IFT140):c.1977G>A (p.Arg659=) rs1165625635 0.00001
NM_014714.4(IFT140):c.2067+7T>G rs775453495 0.00001
NM_014714.4(IFT140):c.2169G>A (p.Met723Ile) rs777432507 0.00001
NM_014714.4(IFT140):c.2334C>T (p.His778=) rs774009074 0.00001
NM_014714.4(IFT140):c.2367C>T (p.Asp789=) rs757026549 0.00001
NM_014714.4(IFT140):c.2400-15C>T rs1342261365 0.00001
NM_014714.4(IFT140):c.2406C>T (p.Ala802=) rs1164268369 0.00001
NM_014714.4(IFT140):c.2529G>A (p.Pro843=) rs1045253033 0.00001
NM_014714.4(IFT140):c.2577+10G>A rs763509815 0.00001
NM_014714.4(IFT140):c.2577+16C>A rs1168134505 0.00001
NM_014714.4(IFT140):c.2589G>A (p.Glu863=) rs765470612 0.00001
NM_014714.4(IFT140):c.2619C>T (p.Asp873=) rs199762967 0.00001
NM_014714.4(IFT140):c.2646G>A (p.Ala882=) rs149265820 0.00001
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.2706C>T (p.Ser902=) rs533750683 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2751C>T (p.Cys917=) rs368887768 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.2796C>T (p.Phe932=) rs765939872 0.00001
NM_014714.4(IFT140):c.2862T>C (p.Asp954=) rs747349401 0.00001
NM_014714.4(IFT140):c.2865-5C>T rs779711939 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2934C>T (p.Tyr978=) rs777862012 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.2970C>T (p.Ile990=) rs375635975 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3048C>T (p.Leu1016=) rs753196603 0.00001
NM_014714.4(IFT140):c.3060C>T (p.Tyr1020=) rs545658252 0.00001
NM_014714.4(IFT140):c.3129C>T (p.Ile1043=) rs2040617691 0.00001
NM_014714.4(IFT140):c.3141+13C>T rs1189568433 0.00001
NM_014714.4(IFT140):c.3141+7C>T rs754889709 0.00001
NM_014714.4(IFT140):c.3165C>A (p.Leu1055=) rs1189584534 0.00001
NM_014714.4(IFT140):c.3204C>T (p.Ile1068=) rs764399101 0.00001
NM_014714.4(IFT140):c.321C>T (p.Thr107=) rs374346968 0.00001
NM_014714.4(IFT140):c.3234C>T (p.Gly1078=) rs200748918 0.00001
NM_014714.4(IFT140):c.3270+16C>T rs1482911649 0.00001
NM_014714.4(IFT140):c.3271-10G>A rs764938152 0.00001
NM_014714.4(IFT140):c.3271-17G>T rs1297843458 0.00001
NM_014714.4(IFT140):c.3303C>T (p.Ala1101=) rs771939015 0.00001
NM_014714.4(IFT140):c.3327C>T (p.Ala1109=) rs1264860860 0.00001
NM_014714.4(IFT140):c.3336C>T (p.Leu1112=) rs372114503 0.00001
NM_014714.4(IFT140):c.3399C>T (p.Phe1133=) rs902953810 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.352C>T (p.Leu118=) rs201381885 0.00001
NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr) rs535064774 0.00001
NM_014714.4(IFT140):c.3669G>A (p.Arg1223=) rs2040482751 0.00001
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=) rs765766910 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met) rs767997025 0.00001
NM_014714.4(IFT140):c.3705G>A (p.Thr1235=) rs748820042 0.00001
NM_014714.4(IFT140):c.3760C>T (p.Leu1254=) rs750847611 0.00001
NM_014714.4(IFT140):c.3762G>A (p.Leu1254=) rs1387148284 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_014714.4(IFT140):c.3810C>T (p.Ile1270=) rs557923123 0.00001
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=) rs1181821502 0.00001
NM_014714.4(IFT140):c.3873+19A>G rs894285113 0.00001
NM_014714.4(IFT140):c.3876G>A (p.Val1292=) rs986239975 0.00001
NM_014714.4(IFT140):c.3885T>C (p.Asp1295=) rs140443906 0.00001
NM_014714.4(IFT140):c.3912C>T (p.His1304=) rs143385994 0.00001
NM_014714.4(IFT140):c.3918G>A (p.Ala1306=) rs767354864 0.00001
NM_014714.4(IFT140):c.3966C>T (p.Pro1322=) rs181794285 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+20G>A rs758371286 0.00001
NM_014714.4(IFT140):c.4041-6C>T rs1596295050 0.00001
NM_014714.4(IFT140):c.4044G>A (p.Thr1348=) rs1034482228 0.00001
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=) rs140265753 0.00001
NM_014714.4(IFT140):c.4146G>A (p.Leu1382=) rs904518816 0.00001
NM_014714.4(IFT140):c.4182+18C>G rs371900494 0.00001
NM_014714.4(IFT140):c.4183-16T>G rs759566930 0.00001
NM_014714.4(IFT140):c.4195C>T (p.Leu1399=) rs910636195 0.00001
NM_014714.4(IFT140):c.4200G>A (p.Glu1400=) rs986247813 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4257C>T (p.Ala1419=) rs535810761 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.4338C>T (p.Asp1446=) rs779634878 0.00001
NM_014714.4(IFT140):c.4362G>T (p.Val1454=) rs763213109 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.441G>A (p.Glu147=) rs62040002 0.00001
NM_014714.4(IFT140):c.609G>A (p.Leu203=) rs1032107314 0.00001
NM_014714.4(IFT140):c.621C>T (p.Val207=) rs1257821160 0.00001
NM_014714.4(IFT140):c.635-20G>A rs770147783 0.00001
NM_014714.4(IFT140):c.642G>A (p.Val214=) rs765268078 0.00001
NM_014714.4(IFT140):c.849C>T (p.Ile283=) rs563162000 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_014714.4(IFT140):c.885C>T (p.Val295=) rs775444392 0.00001
NM_014714.4(IFT140):c.900C>T (p.Leu300=) rs1282920198 0.00001
NM_014714.4(IFT140):c.903-13T>G rs748649022 0.00001
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_001104631.2(PDE4D):c.*1200T>A rs577495801
NM_001104631.2(PDE4D):c.*1201A>T rs559220819
NM_001104631.2(PDE4D):c.*1634_*1635dup rs138187044
NM_001104631.2(PDE4D):c.*2242_*2243del rs148755437
NM_001104631.2(PDE4D):c.*496_*500dup rs527630861
NM_001104631.2(PDE4D):c.*793GTTT[3] rs200995197
NM_001104631.2(PDE4D):c.1288-8dup rs143090133
NM_001104631.2(PDE4D):c.758+11C>A rs202215336
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_002734.5(PRKAR1A):c.*172_*175del rs201146882
NM_002734.5(PRKAR1A):c.*1835del rs138320066
NM_002734.5(PRKAR1A):c.*812A>C rs116996069
NM_002734.5(PRKAR1A):c.503-13dup rs138285568
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4585GA[1] rs374333786
NM_005359.6(SMAD4):c.*6353del rs573785159
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_014112.5(TRPS1):c.*5300_*5303del rs564851438
NM_014112.5(TRPS1):c.1014T>C (p.Asp338=)
NM_014112.5(TRPS1):c.105G>A (p.Glu35=)
NM_014112.5(TRPS1):c.1074C>T (p.Asn358=)
NM_014112.5(TRPS1):c.1083C>A (p.Thr361=)
NM_014112.5(TRPS1):c.1113C>T (p.His371=) rs2130494267
NM_014112.5(TRPS1):c.1130C>T (p.Ala377Val)
NM_014112.5(TRPS1):c.1154C>G (p.Ala385Gly)
NM_014112.5(TRPS1):c.1179C>T (p.Asn393=)
NM_014112.5(TRPS1):c.1233G>A (p.Gln411=)
NM_014112.5(TRPS1):c.1266T>C (p.Thr422=)
NM_014112.5(TRPS1):c.1395A>G (p.Leu465=) rs1315134646
NM_014112.5(TRPS1):c.1467C>T (p.Ser489=)
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)
NM_014112.5(TRPS1):c.1545G>A (p.Ser515=)
NM_014112.5(TRPS1):c.1545G>T (p.Ser515=)
NM_014112.5(TRPS1):c.1584C>T (p.Ala528=)
NM_014112.5(TRPS1):c.1585G>A (p.Glu529Lys)
NM_014112.5(TRPS1):c.1650C>A (p.Gly550=)
NM_014112.5(TRPS1):c.176C>T (p.Thr59Met)
NM_014112.5(TRPS1):c.177G>A (p.Thr59=)
NM_014112.5(TRPS1):c.1782T>C (p.Ile594=)
NM_014112.5(TRPS1):c.1784C>T (p.Thr595Ile)
NM_014112.5(TRPS1):c.1869G>A (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1869G>T (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1929C>G (p.Leu643=)
NM_014112.5(TRPS1):c.1947G>T (p.Val649=)
NM_014112.5(TRPS1):c.1964C>T (p.Ser655Leu)
NM_014112.5(TRPS1):c.1974A>G (p.Lys658=)
NM_014112.5(TRPS1):c.1992G>A (p.Leu664=)
NM_014112.5(TRPS1):c.2000C>T (p.Ser667Leu)
NM_014112.5(TRPS1):c.2001G>A (p.Ser667=) rs766238512
NM_014112.5(TRPS1):c.2026A>C (p.Ser676Arg)
NM_014112.5(TRPS1):c.2087G>A (p.Arg696Gln)
NM_014112.5(TRPS1):c.2096+10G>T
NM_014112.5(TRPS1):c.2096+11G>C rs754841326
NM_014112.5(TRPS1):c.2097-12C>T
NM_014112.5(TRPS1):c.2097-14T>C
NM_014112.5(TRPS1):c.2145C>T (p.Ala715=)
NM_014112.5(TRPS1):c.2310A>G (p.Gly770=)
NM_014112.5(TRPS1):c.2437C>T (p.Leu813=)
NM_014112.5(TRPS1):c.2442G>A (p.Arg814=)
NM_014112.5(TRPS1):c.2451G>A (p.Pro817=)
NM_014112.5(TRPS1):c.2514G>A (p.Lys838=)
NM_014112.5(TRPS1):c.2523G>A (p.Arg841=)
NM_014112.5(TRPS1):c.2524G>A (p.Asp842Asn)
NM_014112.5(TRPS1):c.2534A>G (p.Asn845Ser)
NM_014112.5(TRPS1):c.2559A>C (p.Arg853=)
NM_014112.5(TRPS1):c.2563A>T (p.Ile855Phe)
NM_014112.5(TRPS1):c.2586C>G (p.Thr862=) rs1586430909
NM_014112.5(TRPS1):c.2616C>A (p.Gly872=)
NM_014112.5(TRPS1):c.2634C>T (p.Ala878=)
NM_014112.5(TRPS1):c.2657C>T (p.Ser886Leu)
NM_014112.5(TRPS1):c.2701-15T>C
NM_014112.5(TRPS1):c.2701-20G>T
NM_014112.5(TRPS1):c.2778C>T (p.Gly926=)
NM_014112.5(TRPS1):c.2823+15C>T rs201296334
NM_014112.5(TRPS1):c.2823+19del rs2129768290
NM_014112.5(TRPS1):c.2824-18T>C
NM_014112.5(TRPS1):c.2824-6C>T
NM_014112.5(TRPS1):c.2849A>G (p.Lys950Arg)
NM_014112.5(TRPS1):c.2895C>A (p.Arg965=)
NM_014112.5(TRPS1):c.2919T>C (p.Ala973=)
NM_014112.5(TRPS1):c.294C>T (p.Gly98=)
NM_014112.5(TRPS1):c.3008A>G (p.Glu1003Gly)
NM_014112.5(TRPS1):c.3067T>C (p.Leu1023=)
NM_014112.5(TRPS1):c.3187G>A (p.Gly1063Arg)
NM_014112.5(TRPS1):c.3201C>T (p.Ser1067=)
NM_014112.5(TRPS1):c.3264G>A (p.Ala1088=)
NM_014112.5(TRPS1):c.3333C>G (p.Pro1111=)
NM_014112.5(TRPS1):c.3390T>C (p.Tyr1130=)
NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)
NM_014112.5(TRPS1):c.3429C>T (p.His1143=)
NM_014112.5(TRPS1):c.342G>T (p.Pro114=)
NM_014112.5(TRPS1):c.3439C>T (p.Leu1147=)
NM_014112.5(TRPS1):c.3486G>A (p.Leu1162=)
NM_014112.5(TRPS1):c.3513A>G (p.Ser1171=)
NM_014112.5(TRPS1):c.3540G>A (p.Ala1180=) rs764387571
NM_014112.5(TRPS1):c.3540G>C (p.Ala1180=)
NM_014112.5(TRPS1):c.3561G>A (p.Gly1187=) rs2129746732
NM_014112.5(TRPS1):c.3573C>T (p.Asn1191=) rs375082372
NM_014112.5(TRPS1):c.3574G>A (p.Gly1192Ser)
NM_014112.5(TRPS1):c.3612A>G (p.Val1204=)
NM_014112.5(TRPS1):c.3621A>G (p.Glu1207=)
NM_014112.5(TRPS1):c.3627C>G (p.Pro1209=)
NM_014112.5(TRPS1):c.3667C>G (p.Gln1223Glu)
NM_014112.5(TRPS1):c.3756C>T (p.Asp1252=)
NM_014112.5(TRPS1):c.3798G>A (p.Thr1266=)
NM_014112.5(TRPS1):c.3852A>G (p.Ala1284=)
NM_014112.5(TRPS1):c.391G>T (p.Ala131Ser)
NM_014112.5(TRPS1):c.408G>A (p.Glu136=)
NM_014112.5(TRPS1):c.414G>A (p.Leu138=)
NM_014112.5(TRPS1):c.426A>G (p.Gln142=)
NM_014112.5(TRPS1):c.462C>T (p.Cys154=) rs1419381053
NM_014112.5(TRPS1):c.468C>T (p.Pro156=)
NM_014112.5(TRPS1):c.471A>C (p.Ser157=) rs780661100
NM_014112.5(TRPS1):c.525G>A (p.Glu175=) rs2130532256
NM_014112.5(TRPS1):c.570G>A (p.Leu190=)
NM_014112.5(TRPS1):c.675G>C (p.Pro225=) rs757893991
NM_014112.5(TRPS1):c.72C>T (p.Asn24=)
NM_014112.5(TRPS1):c.735C>T (p.Tyr245=)
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
NM_014112.5(TRPS1):c.900T>C (p.Phe300=)
NM_014112.5(TRPS1):c.993C>T (p.Gly331=)
NM_014694.4(ADAMTSL2):c.-212dup rs539826426
NM_014714.4(IFT140):c.1009+10C>T
NM_014714.4(IFT140):c.1009+16C>A
NM_014714.4(IFT140):c.1009+17T>C
NM_014714.4(IFT140):c.1009+17T>G
NM_014714.4(IFT140):c.1010-10C>A
NM_014714.4(IFT140):c.1010-15T>G
NM_014714.4(IFT140):c.102C>T (p.Tyr34=)
NM_014714.4(IFT140):c.1035A>G (p.Arg345=)
NM_014714.4(IFT140):c.1038G>C (p.Gly346=)
NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys)
NM_014714.4(IFT140):c.1089A>G (p.Ala363=)
NM_014714.4(IFT140):c.1104G>A (p.Arg368=) rs2141839599
NM_014714.4(IFT140):c.1119C>T (p.Thr373=)
NM_014714.4(IFT140):c.1125C>G (p.Thr375=)
NM_014714.4(IFT140):c.1134A>G (p.Gln378=)
NM_014714.4(IFT140):c.1155+18G>A rs2034862936
NM_014714.4(IFT140):c.1156-11T>C
NM_014714.4(IFT140):c.1156-19T>C
NM_014714.4(IFT140):c.1167G>A (p.Arg389=)
NM_014714.4(IFT140):c.1177C>T (p.Leu393=)
NM_014714.4(IFT140):c.1191C>T (p.Ser397=)
NM_014714.4(IFT140):c.1203G>A (p.Val401=)
NM_014714.4(IFT140):c.1215C>T (p.Ser405=) rs778865722
NM_014714.4(IFT140):c.1221G>A (p.Arg407=)
NM_014714.4(IFT140):c.1221G>C (p.Arg407=)
NM_014714.4(IFT140):c.1251G>A (p.Val417=) rs1011320736
NM_014714.4(IFT140):c.1296G>A (p.Leu432=) rs2141817626
NM_014714.4(IFT140):c.1299C>T (p.Ser433=)
NM_014714.4(IFT140):c.1318C>T (p.Leu440=)
NM_014714.4(IFT140):c.1360-13T>C
NM_014714.4(IFT140):c.1362T>C (p.Asp454=)
NM_014714.4(IFT140):c.1371A>G (p.Ala457=)
NM_014714.4(IFT140):c.1383A>C (p.Gly461=)
NM_014714.4(IFT140):c.1404G>A (p.Glu468=)
NM_014714.4(IFT140):c.1428T>C (p.Ser476=) rs771030841
NM_014714.4(IFT140):c.1432+17C>T
NM_014714.4(IFT140):c.1432+18G>T
NM_014714.4(IFT140):c.1432+20A>G
NM_014714.4(IFT140):c.1432+8C>A rs1470310323
NM_014714.4(IFT140):c.1433-11T>G
NM_014714.4(IFT140):c.1433-14G>A
NM_014714.4(IFT140):c.1433-8C>A rs2034521408
NM_014714.4(IFT140):c.147+13A>G
NM_014714.4(IFT140):c.148-14C>G
NM_014714.4(IFT140):c.148-16_148-15delinsGC rs2142043610
NM_014714.4(IFT140):c.148-17C>T
NM_014714.4(IFT140):c.148-8C>A rs2142043483
NM_014714.4(IFT140):c.1491G>A (p.Val497=)
NM_014714.4(IFT140):c.1501C>A (p.Arg501=)
NM_014714.4(IFT140):c.1524+16A>G
NM_014714.4(IFT140):c.1524+19G>A
NM_014714.4(IFT140):c.1525-19T>C
NM_014714.4(IFT140):c.1525-74_1525-14del
NM_014714.4(IFT140):c.1530T>C (p.Thr510=) rs2141634694
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1593G>A (p.Gly531=)
NM_014714.4(IFT140):c.1600C>T (p.Leu534=) rs747185980
NM_014714.4(IFT140):c.1605T>C (p.Val535=)
NM_014714.4(IFT140):c.1623T>G (p.Ala541=) rs1269165048
NM_014714.4(IFT140):c.1652+18A>G
NM_014714.4(IFT140):c.1652+20_1652+33del rs2141632142
NM_014714.4(IFT140):c.1652+8T>G rs2141632572
NM_014714.4(IFT140):c.1653-10C>G rs2141597092
NM_014714.4(IFT140):c.1653-10del rs760597633
NM_014714.4(IFT140):c.1653-12del rs1466360910
NM_014714.4(IFT140):c.1653-4G>T rs750603473
NM_014714.4(IFT140):c.1653-7C>G
NM_014714.4(IFT140):c.1656G>A (p.Glu552=) rs1188167246
NM_014714.4(IFT140):c.1677C>T (p.Cys559=)
NM_014714.4(IFT140):c.1689G>A (p.Ala563=)
NM_014714.4(IFT140):c.1707G>C (p.Val569=)
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.171C>T (p.His57=) rs141882340
NM_014714.4(IFT140):c.1726C>A (p.Arg576=)
NM_014714.4(IFT140):c.1734C>T (p.Ser578=)
NM_014714.4(IFT140):c.1737C>T (p.Ser579=) rs1230491407
NM_014714.4(IFT140):c.1752C>T (p.Ile584=) rs2141595363
NM_014714.4(IFT140):c.1767C>T (p.Ser589=)
NM_014714.4(IFT140):c.1770+15C>G rs374526643
NM_014714.4(IFT140):c.1770+15C>T
NM_014714.4(IFT140):c.1770+16G>A rs563911349
NM_014714.4(IFT140):c.1770+16G>T rs563911349
NM_014714.4(IFT140):c.1771-10C>T
NM_014714.4(IFT140):c.1771-5_1771-3del rs767298881
NM_014714.4(IFT140):c.178A>C (p.Arg60=) rs2142042835
NM_014714.4(IFT140):c.1806C>T (p.Tyr602=)
NM_014714.4(IFT140):c.1866A>G (p.Arg622=)
NM_014714.4(IFT140):c.1872G>T (p.Thr624=) rs775156902
NM_014714.4(IFT140):c.188G>A (p.Arg63Gln)
NM_014714.4(IFT140):c.1901+14T>A
NM_014714.4(IFT140):c.1901+20G>A rs2033701264
NM_014714.4(IFT140):c.1901+8T>C
NM_014714.4(IFT140):c.1902-12T>G rs2033586818
NM_014714.4(IFT140):c.1902-7C>T rs2141543589
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.1950C>T (p.Asn650=)
NM_014714.4(IFT140):c.1998G>A (p.Val666=)
NM_014714.4(IFT140):c.2006C>T (p.Thr669Met)
NM_014714.4(IFT140):c.2007G>A (p.Thr669=)
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
NM_014714.4(IFT140):c.2016C>G (p.Ser672=)
NM_014714.4(IFT140):c.2046A>G (p.Gln682=)
NM_014714.4(IFT140):c.2055C>T (p.Arg685=) rs201447957
NM_014714.4(IFT140):c.2058T>C (p.Ala686=) rs2033572500
NM_014714.4(IFT140):c.2067+8C>G
NM_014714.4(IFT140):c.2068-19A>G
NM_014714.4(IFT140):c.2068-7C>G
NM_014714.4(IFT140):c.2068-7C>T
NM_014714.4(IFT140):c.2068-8T>C
NM_014714.4(IFT140):c.2068-9C>T rs767007478
NM_014714.4(IFT140):c.2136C>A (p.Pro712=)
NM_014714.4(IFT140):c.213G>A (p.Pro71=)
NM_014714.4(IFT140):c.2142T>C (p.Pro714=)
NM_014714.4(IFT140):c.2151C>G (p.Ser717=)
NM_014714.4(IFT140):c.2157T>C (p.Ser719=)
NM_014714.4(IFT140):c.2160C>A (p.Leu720=) rs751181187
NM_014714.4(IFT140):c.2193A>G (p.Thr731=) rs2033435159
NM_014714.4(IFT140):c.2199+12C>T
NM_014714.4(IFT140):c.2199+20G>A
NM_014714.4(IFT140):c.2199+7A>G
NM_014714.4(IFT140):c.2200-10T>C
NM_014714.4(IFT140):c.2200-14C>T rs1206714111
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
NM_014714.4(IFT140):c.2214C>T (p.Asp738=)
NM_014714.4(IFT140):c.2226G>A (p.Glu742=)
NM_014714.4(IFT140):c.2232G>A (p.Glu744=)
NM_014714.4(IFT140):c.2274C>G (p.Pro758=)
NM_014714.4(IFT140):c.2316C>T (p.Thr772=)
NM_014714.4(IFT140):c.2331C>T (p.Leu777=)
NM_014714.4(IFT140):c.2337C>T (p.Phe779=)
NM_014714.4(IFT140):c.2373C>T (p.Ala791=) rs2141465212
NM_014714.4(IFT140):c.2399+19G>C rs2033191634
NM_014714.4(IFT140):c.2400-12G>A rs186193750
NM_014714.4(IFT140):c.2400-12G>C
NM_014714.4(IFT140):c.2400-16C>A
NM_014714.4(IFT140):c.2400-17C>T rs1245431866
NM_014714.4(IFT140):c.2400-4A>G rs771174483
NM_014714.4(IFT140):c.2427C>A (p.Arg809=)
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
NM_014714.4(IFT140):c.2442C>G (p.Thr814=)
NM_014714.4(IFT140):c.2446C>A (p.Arg816=) rs549813139
NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp) rs549813139
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
NM_014714.4(IFT140):c.2500C>A (p.Arg834=)
NM_014714.4(IFT140):c.2517G>T (p.Ala839=)
NM_014714.4(IFT140):c.2550C>G (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.2554C>T (p.Leu852=) rs779954025
NM_014714.4(IFT140):c.255G>A (p.Val85=)
NM_014714.4(IFT140):c.2565G>A (p.Gln855=)
NM_014714.4(IFT140):c.2577+11C>T
NM_014714.4(IFT140):c.2577+13del rs1487210393
NM_014714.4(IFT140):c.2577+14G>A
NM_014714.4(IFT140):c.2577+8G>T
NM_014714.4(IFT140):c.2578-10C>T
NM_014714.4(IFT140):c.2578-15A>G
NM_014714.4(IFT140):c.2578-19G>A
NM_014714.4(IFT140):c.2578-8T>C rs781483603
NM_014714.4(IFT140):c.258G>A (p.Thr86=) rs766569165
NM_014714.4(IFT140):c.2616C>T (p.His872=) rs761615768
NM_014714.4(IFT140):c.261G>A (p.Val87=)
NM_014714.4(IFT140):c.2628C>T (p.Asn876=)
NM_014714.4(IFT140):c.2634C>T (p.Phe878=)
NM_014714.4(IFT140):c.2646G>C (p.Ala882=)
NM_014714.4(IFT140):c.2676C>T (p.Ala892=) rs377016838
NM_014714.4(IFT140):c.2679G>A (p.Glu893=)
NM_014714.4(IFT140):c.2685C>T (p.His895=) rs762560105
NM_014714.4(IFT140):c.2694G>A (p.Val898=) rs1555478342
NM_014714.4(IFT140):c.2698C>T (p.Leu900=)
NM_014714.4(IFT140):c.2712C>T (p.Tyr904=) rs1188805365
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys) rs755504361
NM_014714.4(IFT140):c.2755C>A (p.Arg919=)
NM_014714.4(IFT140):c.2768+11C>G rs1330666788
NM_014714.4(IFT140):c.2768+15C>G rs546649507
NM_014714.4(IFT140):c.2768+15C>T rs546649507
NM_014714.4(IFT140):c.2768+16G>A
NM_014714.4(IFT140):c.2768+19G>A
NM_014714.4(IFT140):c.2768+8C>T rs1044252490
NM_014714.4(IFT140):c.2769-10_2769-8del rs747185911
NM_014714.4(IFT140):c.2769-11T>G
NM_014714.4(IFT140):c.2769-15C>T
NM_014714.4(IFT140):c.2788C>T (p.His930Tyr)
NM_014714.4(IFT140):c.2814G>C (p.Leu938=) rs750405092
NM_014714.4(IFT140):c.2820G>A (p.Glu940=) rs2141175137
NM_014714.4(IFT140):c.2824C>G (p.Leu942Val)
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2829G>C (p.Pro943=)
NM_014714.4(IFT140):c.2835G>C (p.Leu945=)
NM_014714.4(IFT140):c.2864+18G>T
NM_014714.4(IFT140):c.2864+19G>A
NM_014714.4(IFT140):c.2864+19_2864+27del
NM_014714.4(IFT140):c.2865-15T>C
NM_014714.4(IFT140):c.2865-18G>T
NM_014714.4(IFT140):c.2865-4G>A rs113784788
NM_014714.4(IFT140):c.2865-4G>T rs113784788
NM_014714.4(IFT140):c.2865-8G>T
NM_014714.4(IFT140):c.2868C>A (p.Thr956=)
NM_014714.4(IFT140):c.2868C>T (p.Thr956=)
NM_014714.4(IFT140):c.2869C>T (p.Leu957=)
NM_014714.4(IFT140):c.2886G>T (p.Ala962=)
NM_014714.4(IFT140):c.2904G>A (p.Gln968=)
NM_014714.4(IFT140):c.2907C>A (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2923C>T (p.Leu975=)
NM_014714.4(IFT140):c.2931C>T (p.Tyr977=)
NM_014714.4(IFT140):c.2970C>A (p.Ile990=)
NM_014714.4(IFT140):c.2997+11C>T rs551125772
NM_014714.4(IFT140):c.2997+12G>A rs200390733
NM_014714.4(IFT140):c.2997+12G>C
NM_014714.4(IFT140):c.2997+18G>A
NM_014714.4(IFT140):c.2997+20G>A
NM_014714.4(IFT140):c.2997+8C>A
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.2998-14C>A
NM_014714.4(IFT140):c.2998-4C>T rs764678988
NM_014714.4(IFT140):c.3003G>A (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3027C>T (p.Asn1009=)
NM_014714.4(IFT140):c.3036C>T (p.Ala1012=)
NM_014714.4(IFT140):c.3045C>T (p.His1015=) rs2141170948
NM_014714.4(IFT140):c.3057G>A (p.Gln1019=)
NM_014714.4(IFT140):c.3078C>T (p.Val1026=)
NM_014714.4(IFT140):c.3099C>T (p.Tyr1033=)
NM_014714.4(IFT140):c.3117C>T (p.Phe1039=) rs2141170386
NM_014714.4(IFT140):c.3123T>C (p.Asn1041=)
NM_014714.4(IFT140):c.3141+15G>C
NM_014714.4(IFT140):c.3141+16G>T
NM_014714.4(IFT140):c.3142-14C>T
NM_014714.4(IFT140):c.3189C>G (p.Ser1063=) rs2141166224
NM_014714.4(IFT140):c.3192C>T (p.Pro1064=)
NM_014714.4(IFT140):c.3195G>A (p.Glu1065=) rs2040596493
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3216A>G (p.Arg1072=)
NM_014714.4(IFT140):c.3219C>T (p.Tyr1073=)
NM_014714.4(IFT140):c.3222C>T (p.Tyr1074=)
NM_014714.4(IFT140):c.3246C>T (p.Asp1082=)
NM_014714.4(IFT140):c.3270+14A>G
NM_014714.4(IFT140):c.3270+15C>G
NM_014714.4(IFT140):c.3270+17G>A
NM_014714.4(IFT140):c.3270+9T>G
NM_014714.4(IFT140):c.3271-18A>G
NM_014714.4(IFT140):c.3273T>C (p.Ala1091=)
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.3291C>G (p.Ala1097=)
NM_014714.4(IFT140):c.3312C>T (p.Thr1104=) rs2040588187
NM_014714.4(IFT140):c.3369T>C (p.Pro1123=)
NM_014714.4(IFT140):c.3372G>A (p.Ala1124=)
NM_014714.4(IFT140):c.3375C>A (p.Leu1125=)
NM_014714.4(IFT140):c.3375C>T (p.Leu1125=) rs1478734815
NM_014714.4(IFT140):c.3381C>G (p.Ala1127=)
NM_014714.4(IFT140):c.3417C>T (p.Tyr1139=) rs572040196
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
NM_014714.4(IFT140):c.3433C>T (p.Leu1145=)
NM_014714.4(IFT140):c.3450G>A (p.Arg1150=)
NM_014714.4(IFT140):c.3453+13C>T
NM_014714.4(IFT140):c.3453+15G>A
NM_014714.4(IFT140):c.3453+20T>G
NM_014714.4(IFT140):c.3454-19C>T
NM_014714.4(IFT140):c.3454-20C>A rs2141148514
NM_014714.4(IFT140):c.3454-4G>C
NM_014714.4(IFT140):c.3454-8C>T rs892113982
NM_014714.4(IFT140):c.345A>G (p.Gly115=)
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3513G>T (p.Ala1171=)
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3528G>A (p.Val1176=)
NM_014714.4(IFT140):c.3543G>C (p.Ser1181=)
NM_014714.4(IFT140):c.3552T>C (p.Pro1184=)
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3561G>C (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3562C>A (p.Arg1188=)
NM_014714.4(IFT140):c.3565C>A (p.Arg1189=)
NM_014714.4(IFT140):c.3576G>A (p.Leu1192=) rs2141147573
NM_014714.4(IFT140):c.3579G>A (p.Glu1193=)
NM_014714.4(IFT140):c.3609C>T (p.Gly1203=) rs2040497930
NM_014714.4(IFT140):c.3615C>T (p.Tyr1205=)
NM_014714.4(IFT140):c.3624C>T (p.Ala1208=)
NM_014714.4(IFT140):c.3655C>T (p.Leu1219=)
NM_014714.4(IFT140):c.3660+13C>G
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.3661-14G>C
NM_014714.4(IFT140):c.3661-17G>A
NM_014714.4(IFT140):c.3661-20C>T rs1237006550
NM_014714.4(IFT140):c.369+11_369+12del
NM_014714.4(IFT140):c.369+15G>A
NM_014714.4(IFT140):c.369+16C>A
NM_014714.4(IFT140):c.369+20A>G
NM_014714.4(IFT140):c.370-10G>A
NM_014714.4(IFT140):c.370-20G>A rs200779129
NM_014714.4(IFT140):c.370-20G>C rs200779129
NM_014714.4(IFT140):c.3717C>T (p.Ser1239=)
NM_014714.4(IFT140):c.3726G>A (p.Arg1242=) rs1023280480
NM_014714.4(IFT140):c.3792G>A (p.Glu1264=)
NM_014714.4(IFT140):c.382C>G (p.Leu128Val)
NM_014714.4(IFT140):c.3843C>G (p.Leu1281=)
NM_014714.4(IFT140):c.3873+16G>C rs2141143932
NM_014714.4(IFT140):c.3873+17G>A
NM_014714.4(IFT140):c.3874-10A>T
NM_014714.4(IFT140):c.3874-18C>T
NM_014714.4(IFT140):c.3874-7T>C rs2141143432
NM_014714.4(IFT140):c.3874-8C>T
NM_014714.4(IFT140):c.3879G>A (p.Glu1293=) rs2040472652
NM_014714.4(IFT140):c.387G>A (p.Leu129=) rs369420968
NM_014714.4(IFT140):c.3909C>G (p.Ala1303=)
NM_014714.4(IFT140):c.3924C>T (p.Thr1308=)
NM_014714.4(IFT140):c.3942G>A (p.Leu1314=)
NM_014714.4(IFT140):c.3963C>T (p.Ser1321=)
NM_014714.4(IFT140):c.4020G>A (p.Lys1340=) rs759849021
NM_014714.4(IFT140):c.4040+12G>A
NM_014714.4(IFT140):c.4040+13G>C
NM_014714.4(IFT140):c.4040+14G>T
NM_014714.4(IFT140):c.4041-11G>A rs1385552425
NM_014714.4(IFT140):c.4041-11G>C
NM_014714.4(IFT140):c.4041-15C>G
NM_014714.4(IFT140):c.4041-18C>G rs373126808
NM_014714.4(IFT140):c.4041-19T>C
NM_014714.4(IFT140):c.4041-9T>C rs2141135557
NM_014714.4(IFT140):c.4059C>A (p.Pro1353=)
NM_014714.4(IFT140):c.4059C>G (p.Pro1353=)
NM_014714.4(IFT140):c.405G>A (p.Arg135=)
NM_014714.4(IFT140):c.4104C>T (p.Asp1368=)
NM_014714.4(IFT140):c.4119C>T (p.Ile1373=)
NM_014714.4(IFT140):c.4143C>T (p.Phe1381=)
NM_014714.4(IFT140):c.4149G>A (p.Val1383=)
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.4182+14G>A
NM_014714.4(IFT140):c.4182+20C>G
NM_014714.4(IFT140):c.4183-11C>T rs776525322
NM_014714.4(IFT140):c.4183-12C>G
NM_014714.4(IFT140):c.4183-12C>T rs1486803523
NM_014714.4(IFT140):c.4183-14C>A
NM_014714.4(IFT140):c.4183-19G>A
NM_014714.4(IFT140):c.4183-21_4183-20dup
NM_014714.4(IFT140):c.4183-6C>T rs1461505278
NM_014714.4(IFT140):c.4203G>A (p.Glu1401=)
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950
NM_014714.4(IFT140):c.4209G>A (p.Arg1403=)
NM_014714.4(IFT140):c.420G>A (p.Gly140=)
NM_014714.4(IFT140):c.4211G>A (p.Arg1404Gln)
NM_014714.4(IFT140):c.4221C>A (p.Pro1407=) rs544908970
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=) rs143920103
NM_014714.4(IFT140):c.4227C>T (p.Ala1409=)
NM_014714.4(IFT140):c.4242C>T (p.Tyr1414=)
NM_014714.4(IFT140):c.4254G>A (p.Gln1418=)
NM_014714.4(IFT140):c.4278G>A (p.Gly1426=)
NM_014714.4(IFT140):c.4299C>G (p.Arg1433=)
NM_014714.4(IFT140):c.4308C>T (p.Pro1436=)
NM_014714.4(IFT140):c.4320C>T (p.Arg1440=)
NM_014714.4(IFT140):c.435A>G (p.Lys145=)
NM_014714.4(IFT140):c.4388G>A (p.Ter1463=) rs1299854506
NM_014714.4(IFT140):c.456C>T (p.Leu152=)
NM_014714.4(IFT140):c.459G>A (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.474G>C (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.474G>T (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.480C>A (p.Pro160=)
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.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg)
NM_014714.4(IFT140):c.491+10G>A
NM_014714.4(IFT140):c.491+11G>T
NM_014714.4(IFT140):c.491+16G>A
NM_014714.4(IFT140):c.492-15C>G
NM_014714.4(IFT140):c.492-19G>A
NM_014714.4(IFT140):c.505T>C (p.Leu169=)
NM_014714.4(IFT140):c.525C>T (p.Ser175=) rs772378665
NM_014714.4(IFT140):c.54C>G (p.Pro18=)
NM_014714.4(IFT140):c.634+13G>C
NM_014714.4(IFT140):c.634+9C>G
NM_014714.4(IFT140):c.635-12G>A rs12447357
NM_014714.4(IFT140):c.678G>C (p.Val226=) rs1270248004
NM_014714.4(IFT140):c.681G>A (p.Val227=)
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.724A>C (p.Arg242=)
NM_014714.4(IFT140):c.732A>C (p.Ala244=)
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.78C>G (p.Val26=)
NM_014714.4(IFT140):c.792A>G (p.Lys264=)
NM_014714.4(IFT140):c.810+14G>A
NM_014714.4(IFT140):c.810+7G>A
NM_014714.4(IFT140):c.811-11dup rs2034984327
NM_014714.4(IFT140):c.811-18G>A rs371769718
NM_014714.4(IFT140):c.816G>A (p.Lys272=)
NM_014714.4(IFT140):c.831C>T (p.Thr277=)
NM_014714.4(IFT140):c.836G>A (p.Arg279His) rs4786350
NM_014714.4(IFT140):c.864C>A (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.873C>T (p.Leu291=)
NM_014714.4(IFT140):c.903-8T>C
NM_014714.4(IFT140):c.903-9C>T rs373647468
NM_014714.4(IFT140):c.912C>T (p.Asp304=)
NM_014714.4(IFT140):c.939G>C (p.Leu313=)
NM_014714.4(IFT140):c.945A>G (p.Pro315=)
NM_014714.4(IFT140):c.951G>A (p.Glu317=) rs2141851936
NM_014714.4(IFT140):c.975G>A (p.Glu325=) rs1330112951
NM_014714.4(IFT140):c.9C>G (p.Leu3=)
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.4(ADAMTS10):c.*238dup rs151216219
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*19G>A rs201992797
NM_139057.4(ADAMTS17):c.*2157AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2228G>C rs541793251
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*2637C>G rs529849561
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316

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