NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_030957.4(ADAMTS10):c.1588-7C>G
|
rs11882422
|
0.02550
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=)
|
rs34094363
|
0.01557
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)
|
rs34535263
|
0.01269
|
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)
|
rs61745103
|
0.01137
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_000428.3(LTBP2):c.4888+18G>A
|
rs73296217
|
0.01044
|
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=)
|
rs369962641
|
0.01009
|
NM_002181.4(IHH):c.819C>T (p.Pro273=)
|
rs61747697
|
0.00915
|
NM_014694.4(ADAMTSL2):c.1815C>T (p.Asp605=)
|
rs369366346
|
0.00796
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
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_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)
|
rs74863634
|
0.00405
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_014714.4(IFT140):c.492-20C>T
|
rs149012740
|
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_000428.3(LTBP2):c.785C>T (p.Pro262Leu)
|
rs143106228
|
0.00232
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
NM_014714.4(IFT140):c.4040+15C>G
|
rs373703197
|
0.00160
|
NM_014714.4(IFT140):c.2067+12C>T
|
rs201954701
|
0.00129
|
NM_014714.4(IFT140):c.1359+12G>C
|
rs150859038
|
0.00125
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=)
|
rs117063418
|
0.00093
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=)
|
rs148387007
|
0.00075
|
NM_014694.4(ADAMTSL2):c.2036C>G (p.Thr679Ser)
|
rs948210454
|
0.00073
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
NM_005359.6(SMAD4):c.*202A>G
|
rs765823244
|
0.00064
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=)
|
rs199732237
|
0.00056
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_000428.3(LTBP2):c.-93C>T
|
rs769936231
|
0.00049
|
NM_000428.3(LTBP2):c.1686+3G>A
|
rs190814774
|
0.00049
|
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp)
|
rs139904243
|
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_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)
|
rs113216558
|
0.00043
|
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met)
|
rs137854860
|
0.00041
|
NM_001110556.2(FLNA):c.3207+14G>A
|
rs200710010
|
0.00041
|
NM_014714.4(IFT140):c.3661-18C>T
|
rs575501010
|
0.00039
|
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr)
|
rs137914200
|
0.00036
|
NM_014714.4(IFT140):c.1359+20G>A
|
rs374488263
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg)
|
rs374099324
|
0.00032
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
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_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.3173T>C (p.Leu1058Ser)
|
rs141471091
|
0.00024
|
NM_014714.4(IFT140):c.2768+17C>T
|
rs373280850
|
0.00023
|
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu)
|
rs191944410
|
0.00022
|
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_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=)
|
rs148625428
|
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_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)
|
rs149642543
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=)
|
rs377427370
|
0.00018
|
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu)
|
rs148766628
|
0.00017
|
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.8027C>T (p.Pro2676Leu)
|
rs146469379
|
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.3874-17G>A
|
rs376776316
|
0.00016
|
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
|
rs202129528
|
0.00015
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_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_014714.4(IFT140):c.2886G>A (p.Ala962=)
|
rs201150342
|
0.00013
|
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln)
|
rs138596995
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu)
|
rs141230498
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)
|
rs372669687
|
0.00011
|
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)
|
rs201949058
|
0.00011
|
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)
|
rs146480546
|
0.00011
|
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His)
|
rs147661907
|
0.00011
|
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
|
rs751861503
|
0.00011
|
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile)
|
rs745626701
|
0.00010
|
NM_014714.4(IFT140):c.1146G>A (p.Thr382=)
|
rs200975046
|
0.00010
|
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
|
rs749099710
|
0.00010
|
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)
|
rs145645423
|
0.00010
|
NM_014714.4(IFT140):c.768G>A (p.Leu256=)
|
rs775181670
|
0.00010
|
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg)
|
rs146163533
|
0.00010
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)
|
rs371940681
|
0.00009
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
NM_002734.5(PRKAR1A):c.502+12_502+13del
|
rs764075585
|
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.2844C>T (p.Tyr948=)
|
rs777036003
|
0.00009
|
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)
|
rs145746065
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)
|
rs782684339
|
0.00008
|
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe)
|
rs751137317
|
0.00008
|
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)
|
rs538791217
|
0.00008
|
NM_014714.4(IFT140):c.2543G>A (p.Arg848His)
|
rs746743309
|
0.00008
|
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=)
|
rs747655543
|
0.00008
|
NM_014714.4(IFT140):c.4183-20T>C
|
rs371461352
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000428.3(LTBP2):c.654C>T (p.Cys218=)
|
rs375324850
|
0.00007
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=)
|
rs538479771
|
0.00007
|
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)
|
rs778311141
|
0.00007
|
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe)
|
rs137966471
|
0.00007
|
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)
|
rs757585192
|
0.00007
|
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)
|
rs758535401
|
0.00007
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)
|
rs146383819
|
0.00006
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr)
|
rs200292484
|
0.00006
|
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)
|
rs147556035
|
0.00006
|
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)
|
rs781160807
|
0.00006
|
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.1401C>T (p.Phe467=)
|
rs368477699
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)
|
rs748463111
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)
|
rs756324852
|
0.00006
|
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)
|
rs566568065
|
0.00006
|
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)
|
rs1002670900
|
0.00006
|
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)
|
rs771632573
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_014714.4(IFT140):c.903-17G>T
|
rs377542255
|
0.00006
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_000428.3(LTBP2):c.2388+8C>T
|
rs201838800
|
0.00005
|
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg)
|
rs370119182
|
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_014714.4(IFT140):c.1976G>A (p.Arg659Gln)
|
rs780189760
|
0.00005
|
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)
|
rs199758112
|
0.00005
|
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys)
|
rs774690522
|
0.00005
|
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys)
|
rs368830697
|
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.4274G>A (p.Arg1425Gln)
|
rs150276786
|
0.00005
|
NM_014714.4(IFT140):c.594G>A (p.Gly198=)
|
rs754896534
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=)
|
rs147213897
|
0.00004
|
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln)
|
rs371346534
|
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_002734.5(PRKAR1A):c.549+20A>G
|
rs981055703
|
0.00004
|
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)
|
rs201871050
|
0.00004
|
NM_014714.4(IFT140):c.1653-4G>A
|
rs750603473
|
0.00004
|
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp)
|
rs757678246
|
0.00004
|
NM_014714.4(IFT140):c.189G>A (p.Arg63=)
|
rs759832443
|
0.00004
|
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)
|
rs141172132
|
0.00004
|
NM_014714.4(IFT140):c.2400-13C>T
|
rs558510749
|
0.00004
|
NM_014714.4(IFT140):c.2433C>T (p.Cys811=)
|
rs756784917
|
0.00004
|
NM_014714.4(IFT140):c.2492G>A (p.Arg831His)
|
rs769046641
|
0.00004
|
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)
|
rs771116194
|
0.00004
|
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val)
|
rs145609033
|
0.00004
|
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu)
|
rs2040655109
|
0.00004
|
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)
|
rs369493147
|
0.00004
|
NM_014714.4(IFT140):c.291G>A (p.Thr97=)
|
rs774795976
|
0.00004
|
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=)
|
rs528573485
|
0.00004
|
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)
|
rs146537096
|
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.3881T>C (p.Ile1294Thr)
|
rs539917190
|
0.00004
|
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)
|
rs753109181
|
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.903-5T>G
|
rs900599017
|
0.00004
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp)
|
rs200745301
|
0.00004
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg)
|
rs201430837
|
0.00003
|
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg)
|
rs764828666
|
0.00003
|
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp)
|
rs150484024
|
0.00003
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)
|
rs764537319
|
0.00003
|
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)
|
rs373111085
|
0.00003
|
NM_014714.4(IFT140):c.1901+1G>T
|
rs375910993
|
0.00003
|
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)
|
rs778960409
|
0.00003
|
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg)
|
rs769632242
|
0.00003
|
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln)
|
rs200440483
|
0.00003
|
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys)
|
rs755748472
|
0.00003
|
NM_014714.4(IFT140):c.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.3103C>T (p.Arg1035Trp)
|
rs141818893
|
0.00003
|
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)
|
rs952706482
|
0.00003
|
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)
|
rs149521576
|
0.00003
|
NM_014714.4(IFT140):c.4041-5G>A
|
rs754813435
|
0.00003
|
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=)
|
rs768372140
|
0.00003
|
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
0.00002
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)
|
rs782313331
|
0.00002
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)
|
rs139569694
|
0.00002
|
NM_014714.4(IFT140):c.127G>A (p.Val43Met)
|
rs150649451
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.2200-20A>G
|
rs760501465
|
0.00002
|
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)
|
rs758544371
|
0.00002
|
NM_014714.4(IFT140):c.2691C>T (p.Arg897=)
|
rs776456361
|
0.00002
|
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys)
|
rs778004145
|
0.00002
|
NM_014714.4(IFT140):c.2702G>A (p.Arg901His)
|
rs374245105
|
0.00002
|
NM_014714.4(IFT140):c.312C>T (p.Ala104=)
|
rs138263672
|
0.00002
|
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)
|
rs763140298
|
0.00002
|
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)
|
rs764946729
|
0.00002
|
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu)
|
rs542803163
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)
|
rs369161842
|
0.00002
|
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala)
|
rs138311751
|
0.00002
|
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys)
|
rs756142477
|
0.00002
|
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)
|
rs557586568
|
0.00002
|
NM_014714.4(IFT140):c.773C>T (p.Thr258Met)
|
rs140020318
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.164+12G>A
|
rs571164659
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)
|
rs1335136151
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
NM_000138.5(FBN1):c.297G>A (p.Met99Ile)
|
rs1314594090
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
|
rs886038781
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)
|
rs1258352189
|
0.00001
|
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)
|
rs778219976
|
0.00001
|
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)
|
rs778145681
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)
|
rs560230585
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn)
|
rs794728227
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)
|
rs140629
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg)
|
rs1220647446
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.862+3A>G
|
rs1555401453
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000428.3(LTBP2):c.2788+14G>A
|
rs753628301
|
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.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
NM_001110556.2(FLNA):c.2316C>A (p.Val772=)
|
rs2067723075
|
0.00001
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)
|
rs760033566
|
0.00001
|
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)
|
rs147621330
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)
|
rs1064794204
|
0.00001
|
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)
|
rs542392980
|
0.00001
|
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)
|
rs759288477
|
0.00001
|
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)
|
rs587780793
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_005359.6(SMAD4):c.70A>G (p.Met24Val)
|
rs876659391
|
0.00001
|
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)
|
rs1229812463
|
0.00001
|
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)
|
rs730881953
|
0.00001
|
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)
|
rs754373519
|
0.00001
|
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met)
|
rs762293142
|
0.00001
|
NM_014714.4(IFT140):c.1322G>A (p.Arg441His)
|
rs776567773
|
0.00001
|
NM_014714.4(IFT140):c.1359+17C>T
|
rs767520111
|
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.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
0.00001
|
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr)
|
rs775630184
|
0.00001
|
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn)
|
rs138674110
|
0.00001
|
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp)
|
rs2033705618
|
0.00001
|
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys)
|
rs778368172
|
0.00001
|
NM_014714.4(IFT140):c.2054G>A (p.Arg685His)
|
rs370263158
|
0.00001
|
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln)
|
rs140458893
|
0.00001
|
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln)
|
rs536061072
|
0.00001
|
NM_014714.4(IFT140):c.2455G>A (p.Val819Met)
|
rs766515079
|
0.00001
|
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys)
|
rs754073086
|
0.00001
|
NM_014714.4(IFT140):c.2545G>A (p.Val849Met)
|
rs771662799
|
0.00001
|
NM_014714.4(IFT140):c.2578-2A>G
|
rs2040685752
|
0.00001
|
NM_014714.4(IFT140):c.257C>T (p.Thr86Met)
|
rs1159315989
|
0.00001
|
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)
|
rs144513458
|
0.00001
|
NM_014714.4(IFT140):c.2661G>A (p.Glu887=)
|
rs1287846996
|
0.00001
|
NM_014714.4(IFT140):c.2690G>A (p.Arg897His)
|
rs745863942
|
0.00001
|
NM_014714.4(IFT140):c.2718C>G (p.Arg906=)
|
rs780540683
|
0.00001
|
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)
|
rs566450108
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
0.00001
|
NM_014714.4(IFT140):c.2916C>T (p.Asp972=)
|
rs148945612
|
0.00001
|
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)
|
rs745576178
|
0.00001
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)
|
rs1432688490
|
0.00001
|
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys)
|
rs777230794
|
0.00001
|
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)
|
rs760652531
|
0.00001
|
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)
|
rs772423904
|
0.00001
|
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln)
|
rs780533679
|
0.00001
|
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)
|
rs754978656
|
0.00001
|
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn)
|
rs771772194
|
0.00001
|
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=)
|
rs765766910
|
0.00001
|
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=)
|
rs769211167
|
0.00001
|
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=)
|
rs1181821502
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.3874-1G>A
|
rs749563050
|
0.00001
|
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg)
|
rs755596826
|
0.00001
|
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu)
|
rs776809726
|
0.00001
|
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)
|
rs376151586
|
0.00001
|
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=)
|
rs140265753
|
0.00001
|
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg)
|
rs907401737
|
0.00001
|
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)
|
rs756711276
|
0.00001
|
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)
|
rs777181948
|
0.00001
|
NM_014714.4(IFT140):c.489C>T (p.Gly163=)
|
rs776597097
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe)
|
rs1442341163
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)
|
rs886044236
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)
|
rs1031572615
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)
|
rs2141279835
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)
|
rs397515808
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)
|
rs1057518501
|
|
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)
|
rs776199613
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)
|
rs2043210015
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)
|
rs370940450
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)
|
rs2043116342
|
|
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)
|
rs1413266501
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)
|
rs776823384
|
|
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)
|
rs1375370990
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)
|
rs794728261
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser)
|
rs982468949
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys)
|
rs1566919661
|
|
NM_000428.3(LTBP2):c.*10dup
|
rs546442756
|
|
NM_000428.3(LTBP2):c.2389-2A>G
|
rs1327636983
|
|
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala)
|
rs758952168
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
|
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly)
|
rs2148110326
|
|
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=)
|
rs1026564714
|
|
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del)
|
rs71036212
|
|
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)
|
rs1555815121
|
|
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)
|
rs778468626
|
|
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del)
|
rs1308936763
|
|
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu)
|
rs1568696484
|
|
NM_002734.5(PRKAR1A):c.503-13dup
|
rs138285568
|
|
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile)
|
rs773162575
|
|
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His)
|
rs2143324114
|
|
NM_002734.5(PRKAR1A):c.709-7_709-2del
|
rs281864801
|
|
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met)
|
rs1329426125
|
|
NM_005359.6(SMAD4):c.-69G>A
|
rs772186355
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=)
|
rs1060504023
|
|
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)
|
rs1568211184
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)
|
rs1057524809
|
|
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)
|
rs1910526660
|
|
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)
|
rs1064793950
|
|
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)
|
rs786204166
|
|
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)
|
rs1568206043
|
|
NM_005359.6(SMAD4):c.908C>A (p.Pro303His)
|
rs2144433151
|
|
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)
|
rs1166261279
|
|
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr)
|
rs1188370536
|
|
NM_014714.4(IFT140):c.1359_1359+3delinsAC
|
rs2141816540
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1380del (p.Asn460fs)
|
rs431905522
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1428T>C (p.Ser476=)
|
rs771030841
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.148-16_148-15delinsGC
|
rs2142043610
|
|
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
|
NM_014714.4(IFT140):c.1653-10del
|
rs760597633
|
|
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1737C>T (p.Ser579=)
|
rs1230491407
|
|
NM_014714.4(IFT140):c.1770+15C>G
|
rs374526643
|
|
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.2068-2A>G
|
rs1489989834
|
|
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
|
rs1415763185
|
|
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
|
rs2033196611
|
|
NM_014714.4(IFT140):c.2400-12G>A
|
rs186193750
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
NM_014714.4(IFT140):c.2550C>G (p.Ala850=)
|
rs2745180
|
|
NM_014714.4(IFT140):c.258G>A (p.Thr86=)
|
rs766569165
|
|
NM_014714.4(IFT140):c.2612G>A (p.Arg871His)
|
rs905240853
|
|
NM_014714.4(IFT140):c.2617G>C (p.Asp873His)
|
rs560840162
|
|
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser)
|
rs775517181
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_014714.4(IFT140):c.2655del (p.Trp885fs)
|
rs762111572
|
|
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)
|
rs2141179932
|
|
NM_014714.4(IFT140):c.2682C>A (p.His894Gln)
|
rs774192784
|
|
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)
|
rs200561100
|
|
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)
|
rs1489901262
|
|
NM_014714.4(IFT140):c.2948del (p.Asp983fs)
|
rs2141172226
|
|
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)
|
rs151293332
|
|
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)
|
rs767290624
|
|
NM_014714.4(IFT140):c.3142_3144del
|
rs754866110
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)
|
rs140159548
|
|
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys)
|
rs140159548
|
|
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)
|
rs765669703
|
|
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
|
rs370255916
|
|
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=)
|
rs752664070
|
|
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
|
rs566568065
|
|
NM_014714.4(IFT140):c.370-20G>C
|
rs200779129
|
|
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])
|
rs746697405
|
|
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.4183-11C>T
|
rs776525322
|
|
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)
|
rs143920103
|
|
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)
|
rs138697817
|
|
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)
|
rs760889117
|
|
NM_014714.4(IFT140):c.474G>C (p.Arg158=)
|
rs145287241
|
|
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)
|
rs148462329
|
|
NM_014714.4(IFT140):c.482C>A (p.Pro161His)
|
rs191927317
|
|
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)
|
rs752659125
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)
|
rs1014959895
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|