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
|
|