NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
NM_001032283.3(TMPO):c.565+1848G>A
|
rs34301677
|
0.00037
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_001032283.3(TMPO):c.565+1186T>A
|
rs146364154
|
0.00017
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met)
|
rs202219940
|
0.00014
|
NM_001032283.3(TMPO):c.565+2182T>C
|
rs571417296
|
0.00013
|
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)
|
rs996297395
|
0.00013
|
NM_001032283.3(TMPO):c.565+1641A>G
|
rs143232629
|
0.00011
|
NM_003239.5(TGFB3):c.757G>A (p.Val253Met)
|
rs532517095
|
0.00011
|
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)
|
rs756232510
|
0.00009
|
NM_001032283.3(TMPO):c.565+1531C>T
|
rs199943517
|
0.00009
|
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn)
|
rs147601018
|
0.00009
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_001032283.3(TMPO):c.565+1617A>G
|
rs771185259
|
0.00008
|
NM_003036.4(SKI):c.242C>A (p.Pro81Gln)
|
rs542659326
|
0.00008
|
NM_003238.6(TGFB2):c.556G>A (p.Asp186Asn)
|
rs766536496
|
0.00008
|
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)
|
rs781353815
|
0.00008
|
NM_000138.5(FBN1):c.2678-3C>T
|
rs747274959
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_001032283.3(TMPO):c.565+2102C>G
|
rs764177808
|
0.00007
|
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
|
rs763094223
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser)
|
rs751472490
|
0.00006
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
NM_001032283.3(TMPO):c.565+1213G>A
|
rs368211058
|
0.00006
|
NM_001032283.3(TMPO):c.565+1317C>T
|
rs376074187
|
0.00006
|
NM_001032283.3(TMPO):c.565+1328G>T
|
rs369208265
|
0.00006
|
NM_001032283.3(TMPO):c.565+2196A>G
|
rs369840957
|
0.00006
|
NM_001032283.3(TMPO):c.565+2361G>T
|
rs746160070
|
0.00006
|
NM_001999.4(FBN2):c.1181G>A (p.Arg394His)
|
rs150790914
|
0.00006
|
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val)
|
rs765442038
|
0.00006
|
NM_001999.4(FBN2):c.5422+6T>G
|
rs1000499022
|
0.00006
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
|
rs201590284
|
0.00006
|
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu)
|
rs750324465
|
0.00006
|
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val)
|
rs371230847
|
0.00006
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys)
|
rs769589759
|
0.00005
|
NM_001032283.3(TMPO):c.565+1107C>T
|
rs750751621
|
0.00005
|
NM_001032283.3(TMPO):c.565+1824C>G
|
rs373861992
|
0.00005
|
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)
|
rs762139261
|
0.00005
|
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)
|
rs774648274
|
0.00005
|
NM_003238.6(TGFB2):c.386T>C (p.Ile129Thr)
|
rs752823052
|
0.00005
|
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)
|
rs201063101
|
0.00005
|
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)
|
rs363855
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1951G>A (p.Val651Met)
|
rs1335043561
|
0.00004
|
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg)
|
rs777826174
|
0.00004
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
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_001032283.3(TMPO):c.128A>G (p.Gln43Arg)
|
rs371427406
|
0.00004
|
NM_001032283.3(TMPO):c.565+1310G>C
|
rs779961791
|
0.00004
|
NM_001032283.3(TMPO):c.565+1414G>A
|
rs1381728541
|
0.00004
|
NM_001032283.3(TMPO):c.565+1675A>G
|
rs370366685
|
0.00004
|
NM_001032283.3(TMPO):c.565+2188C>T
|
rs763238672
|
0.00004
|
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys)
|
rs1204772554
|
0.00004
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr)
|
rs755127278
|
0.00004
|
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn)
|
rs751406554
|
0.00004
|
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp)
|
rs773305589
|
0.00004
|
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu)
|
rs1415043313
|
0.00004
|
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys)
|
rs200158069
|
0.00004
|
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys)
|
rs370217718
|
0.00004
|
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu)
|
rs781193859
|
0.00004
|
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)
|
rs143354709
|
0.00004
|
NM_003238.6(TGFB2):c.697C>T (p.Pro233Ser)
|
rs753572174
|
0.00004
|
NM_003239.5(TGFB3):c.-30G>A
|
rs770828281
|
0.00004
|
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn)
|
rs757664433
|
0.00004
|
NM_003239.5(TGFB3):c.626G>A (p.Arg209His)
|
rs779897294
|
0.00004
|
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser)
|
rs1018415204
|
0.00004
|
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)
|
rs145121701
|
0.00004
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
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.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)
|
rs764203302
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.7680G>T (p.Gln2560His)
|
rs780206348
|
0.00003
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_001032283.3(TMPO):c.331G>C (p.Asp111His)
|
rs201838047
|
0.00003
|
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly)
|
rs765922156
|
0.00003
|
NM_001032283.3(TMPO):c.565+1917A>G
|
rs727505217
|
0.00003
|
NM_001032283.3(TMPO):c.565+2104A>G
|
rs766567371
|
0.00003
|
NM_001032283.3(TMPO):c.565+2247C>T
|
rs369379490
|
0.00003
|
NM_001032283.3(TMPO):c.565+2253C>T
|
rs201929673
|
0.00003
|
NM_001032283.3(TMPO):c.565+2268A>T
|
rs759832690
|
0.00003
|
NM_001032283.3(TMPO):c.565+2301A>G
|
rs765153747
|
0.00003
|
NM_001032283.3(TMPO):c.565+2467T>A
|
rs767216575
|
0.00003
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter)
|
rs863223569
|
0.00003
|
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His)
|
rs771260299
|
0.00003
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln)
|
rs748681103
|
0.00003
|
NM_003036.4(SKI):c.1767+11C>T
|
rs202132957
|
0.00003
|
NM_003036.4(SKI):c.1817C>T (p.Thr606Met)
|
rs753862105
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.878G>A (p.Gly293Asp)
|
rs756571135
|
0.00003
|
NM_003036.4(SKI):c.915C>G (p.Asp305Glu)
|
rs900879745
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile)
|
rs757551766
|
0.00003
|
NM_003238.6(TGFB2):c.428A>G (p.Asn143Ser)
|
rs141548795
|
0.00003
|
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met)
|
rs757031677
|
0.00003
|
NM_003239.5(TGFB3):c.797G>A (p.Arg266His)
|
rs142069844
|
0.00003
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
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.2854+5A>G
|
rs762989672
|
0.00002
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys)
|
rs780301913
|
0.00002
|
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly)
|
rs749255004
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His)
|
rs397515808
|
0.00002
|
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=)
|
rs143544916
|
0.00002
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr)
|
rs776999627
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg)
|
rs748358548
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser)
|
rs1464303112
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)
|
rs730880228
|
0.00002
|
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)
|
rs772509210
|
0.00002
|
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)
|
rs375619307
|
0.00002
|
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr)
|
rs147012167
|
0.00002
|
NM_001032283.3(TMPO):c.565+1078A>G
|
rs774074641
|
0.00002
|
NM_001032283.3(TMPO):c.565+1246T>C
|
rs144465114
|
0.00002
|
NM_001032283.3(TMPO):c.565+1449A>G
|
rs754951098
|
0.00002
|
NM_001032283.3(TMPO):c.565+1597T>C
|
rs1227785613
|
0.00002
|
NM_001032283.3(TMPO):c.565+1829dup
|
rs1877366767
|
0.00002
|
NM_001032283.3(TMPO):c.565+2095A>C
|
rs557983360
|
0.00002
|
NM_001032283.3(TMPO):c.565+2137A>G
|
rs886049913
|
0.00002
|
NM_001032283.3(TMPO):c.565+2248G>A
|
rs150445385
|
0.00002
|
NM_001032283.3(TMPO):c.70A>C (p.Asn24His)
|
rs727505279
|
0.00002
|
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr)
|
rs1174108011
|
0.00002
|
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile)
|
rs1204127908
|
0.00002
|
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)
|
rs1401325502
|
0.00002
|
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys)
|
rs576123258
|
0.00002
|
NM_001999.4(FBN2):c.1365G>T (p.Gly455=)
|
rs794726987
|
0.00002
|
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala)
|
rs928205576
|
0.00002
|
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser)
|
rs746408145
|
0.00002
|
NM_001999.4(FBN2):c.2620A>C (p.Asn874His)
|
rs1297639505
|
0.00002
|
NM_001999.4(FBN2):c.2811A>G (p.Leu937=)
|
rs1751336276
|
0.00002
|
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys)
|
rs758694112
|
0.00002
|
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)
|
rs769474473
|
0.00002
|
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val)
|
rs779901706
|
0.00002
|
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser)
|
rs868031420
|
0.00002
|
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu)
|
rs1464960068
|
0.00002
|
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu)
|
rs199583859
|
0.00002
|
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys)
|
rs764032053
|
0.00002
|
NM_001999.4(FBN2):c.7712-11T>A
|
rs776926809
|
0.00002
|
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly)
|
rs1430209734
|
0.00002
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu)
|
rs149180427
|
0.00002
|
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys)
|
rs863223592
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)
|
rs759663808
|
0.00002
|
NM_003036.4(SKI):c.1118G>A (p.Arg373His)
|
rs768924434
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)
|
rs781304969
|
0.00002
|
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys)
|
rs377517039
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.892G>T (p.Ala298Ser)
|
rs769113221
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln)
|
rs751650226
|
0.00002
|
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln)
|
rs781392453
|
0.00002
|
NM_003238.6(TGFB2):c.94T>C (p.Phe32Leu)
|
rs779872141
|
0.00002
|
NM_003239.5(TGFB3):c.529G>A (p.Asp177Asn)
|
rs755611135
|
0.00002
|
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val)
|
rs1474433492
|
0.00002
|
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg)
|
rs766164843
|
0.00002
|
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala)
|
rs768423844
|
0.00002
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
NM_000138.5(FBN1):c.1146C>T (p.Thr382=)
|
rs889875676
|
0.00001
|
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn)
|
rs1405173549
|
0.00001
|
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala)
|
rs749467972
|
0.00001
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val)
|
rs1257581073
|
0.00001
|
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp)
|
rs767068276
|
0.00001
|
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile)
|
rs373751659
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1560G>C (p.Gln520His)
|
rs143253318
|
0.00001
|
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser)
|
rs754364317
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.164+6G>A
|
rs760968439
|
0.00001
|
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr)
|
rs112269822
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.1686T>G (p.His562Gln)
|
rs1220088131
|
0.00001
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)
|
rs1335136151
|
0.00001
|
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp)
|
rs794728180
|
0.00001
|
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp)
|
rs1238689648
|
0.00001
|
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser)
|
rs766346620
|
0.00001
|
NM_000138.5(FBN1):c.2098C>T (p.Pro700Ser)
|
rs745694291
|
0.00001
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
NM_000138.5(FBN1):c.2115G>A (p.Ala705=)
|
rs932764622
|
0.00001
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
|
rs777526851
|
0.00001
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr)
|
rs1488064078
|
0.00001
|
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)
|
rs756111066
|
0.00001
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu)
|
rs922684362
|
0.00001
|
NM_000138.5(FBN1):c.2877C>A (p.Phe959Leu)
|
rs1411365281
|
0.00001
|
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser)
|
rs752117227
|
0.00001
|
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu)
|
rs751985082
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.2935G>A (p.Ala979Thr)
|
rs748915171
|
0.00001
|
NM_000138.5(FBN1):c.297G>A (p.Met99Ile)
|
rs1314594090
|
0.00001
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val)
|
rs990134651
|
0.00001
|
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn)
|
rs778867355
|
0.00001
|
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser)
|
rs1437464599
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg)
|
rs777727844
|
0.00001
|
NM_000138.5(FBN1):c.3464-3C>T
|
rs770992241
|
0.00001
|
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu)
|
rs1057520181
|
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.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
NM_000138.5(FBN1):c.370A>G (p.Met124Val)
|
rs764224168
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr)
|
rs993279983
|
0.00001
|
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly)
|
rs1655998227
|
0.00001
|
NM_000138.5(FBN1):c.4087+6T>A
|
rs746201265
|
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.4312A>G (p.Ser1438Gly)
|
rs1309215883
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
NM_000138.5(FBN1):c.4541C>T (p.Pro1514Leu)
|
rs746205136
|
0.00001
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
NM_000138.5(FBN1):c.4581T>C (p.Val1527=)
|
rs2043340510
|
0.00001
|
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser)
|
rs1254024310
|
0.00001
|
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln)
|
rs753491504
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala)
|
rs959567666
|
0.00001
|
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu)
|
rs772818208
|
0.00001
|
NM_000138.5(FBN1):c.4802C>A (p.Thr1601Asn)
|
rs1363357978
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys)
|
rs1228647846
|
0.00001
|
NM_000138.5(FBN1):c.5147A>T (p.Lys1716Met)
|
rs2043292832
|
0.00001
|
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile)
|
rs2043270857
|
0.00001
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
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.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg)
|
rs746473206
|
0.00001
|
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg)
|
rs748230405
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
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.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly)
|
rs1057036462
|
0.00001
|
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser)
|
rs921321822
|
0.00001
|
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn)
|
rs768457461
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys)
|
rs1219570062
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln)
|
rs753703844
|
0.00001
|
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys)
|
rs777877864
|
0.00001
|
NM_000138.5(FBN1):c.6496+3G>A
|
rs750222196
|
0.00001
|
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
|
rs373510719
|
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.6595G>A (p.Gly2199Ser)
|
rs770132403
|
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.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn)
|
rs746666535
|
0.00001
|
NM_000138.5(FBN1):c.687C>G (p.His229Gln)
|
rs1391600366
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.6997+15C>T
|
rs1453967282
|
0.00001
|
NM_000138.5(FBN1):c.6997+3G>A
|
rs1270425478
|
0.00001
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr)
|
rs548057493
|
0.00001
|
NM_000138.5(FBN1):c.722C>T (p.Thr241Met)
|
rs747049980
|
0.00001
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7361C>T (p.Pro2454Leu)
|
rs1555394410
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu)
|
rs199524640
|
0.00001
|
NM_000138.5(FBN1):c.757A>G (p.Ile253Val)
|
rs1422959121
|
0.00001
|
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser)
|
rs1566889839
|
0.00001
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln)
|
rs762276905
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val)
|
rs1253681259
|
0.00001
|
NM_000138.5(FBN1):c.8261C>T (p.Ala2754Val)
|
rs1372306620
|
0.00001
|
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg)
|
rs1220647446
|
0.00001
|
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met)
|
rs1427984176
|
0.00001
|
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)
|
rs1480715909
|
0.00001
|
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His)
|
rs1306203757
|
0.00001
|
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)
|
rs755903722
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)
|
rs363848
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.987A>G (p.Ile329Met)
|
rs1289726476
|
0.00001
|
NM_000138.5(FBN1):c.995G>A (p.Arg332His)
|
rs748929044
|
0.00001
|
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe)
|
rs1490105931
|
0.00001
|
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)
|
rs767796798
|
0.00001
|
NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr)
|
rs987636941
|
0.00001
|
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln)
|
rs774853700
|
0.00001
|
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu)
|
rs778356103
|
0.00001
|
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser)
|
rs529351559
|
0.00001
|
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg)
|
rs200943582
|
0.00001
|
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)
|
rs1001615865
|
0.00001
|
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe)
|
rs183244086
|
0.00001
|
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly)
|
rs1430201856
|
0.00001
|
NM_001032283.3(TMPO):c.565+1053A>G
|
rs769778970
|
0.00001
|
NM_001032283.3(TMPO):c.565+1084T>A
|
rs767247716
|
0.00001
|
NM_001032283.3(TMPO):c.565+1104A>C
|
rs764732034
|
0.00001
|
NM_001032283.3(TMPO):c.565+1128G>A
|
rs770791830
|
0.00001
|
NM_001032283.3(TMPO):c.565+1137G>A
|
rs375903462
|
0.00001
|
NM_001032283.3(TMPO):c.565+1155A>G
|
rs1235766643
|
0.00001
|
NM_001032283.3(TMPO):c.565+1165G>C
|
rs191275106
|
0.00001
|
NM_001032283.3(TMPO):c.565+1183C>T
|
rs762263378
|
0.00001
|
NM_001032283.3(TMPO):c.565+1275A>G
|
rs763320036
|
0.00001
|
NM_001032283.3(TMPO):c.565+1282T>C
|
rs886049912
|
0.00001
|
NM_001032283.3(TMPO):c.565+1297C>T
|
rs560525921
|
0.00001
|
NM_001032283.3(TMPO):c.565+1305T>G
|
rs201730568
|
0.00001
|
NM_001032283.3(TMPO):c.565+1318A>G
|
rs754640974
|
0.00001
|
NM_001032283.3(TMPO):c.565+1327T>C
|
rs1325196944
|
0.00001
|
NM_001032283.3(TMPO):c.565+1384A>G
|
rs766401550
|
0.00001
|
NM_001032283.3(TMPO):c.565+1390A>G
|
rs780719278
|
0.00001
|
NM_001032283.3(TMPO):c.565+1471C>T
|
rs779303657
|
0.00001
|
NM_001032283.3(TMPO):c.565+1485A>G
|
rs730880229
|
0.00001
|
NM_001032283.3(TMPO):c.565+1567C>T
|
rs202166461
|
0.00001
|
NM_001032283.3(TMPO):c.565+1576T>C
|
rs747232440
|
0.00001
|
NM_001032283.3(TMPO):c.565+1623C>G
|
rs902009254
|
0.00001
|
NM_001032283.3(TMPO):c.565+1626C>G
|
rs1555203864
|
0.00001
|
NM_001032283.3(TMPO):c.565+1648A>G
|
rs1057524856
|
0.00001
|
NM_001032283.3(TMPO):c.565+1654T>C
|
rs753527126
|
0.00001
|
NM_001032283.3(TMPO):c.565+1662T>G
|
rs200367787
|
0.00001
|
NM_001032283.3(TMPO):c.565+1805A>C
|
rs767027388
|
0.00001
|
NM_001032283.3(TMPO):c.565+1809G>A
|
rs1450805694
|
0.00001
|
NM_001032283.3(TMPO):c.565+1911A>G
|
rs754188509
|
0.00001
|
NM_001032283.3(TMPO):c.565+1949C>G
|
rs750502531
|
0.00001
|
NM_001032283.3(TMPO):c.565+1968G>A
|
rs1051007448
|
0.00001
|
NM_001032283.3(TMPO):c.565+2079C>T
|
rs144269053
|
0.00001
|
NM_001032283.3(TMPO):c.565+2092C>A
|
rs563175204
|
0.00001
|
NM_001032283.3(TMPO):c.565+2236C>G
|
rs746645331
|
0.00001
|
NM_001032283.3(TMPO):c.565+2260C>T
|
rs367769644
|
0.00001
|
NM_001032283.3(TMPO):c.565+2331A>G
|
rs1319585944
|
0.00001
|
NM_001032283.3(TMPO):c.565+2347T>C
|
rs1450811229
|
0.00001
|
NM_001032283.3(TMPO):c.565+2367C>T
|
rs772424658
|
0.00001
|
NM_001032283.3(TMPO):c.565+2409T>G
|
rs759247844
|
0.00001
|
NM_001032283.3(TMPO):c.565+2431C>G
|
rs1435432542
|
0.00001
|
NM_001032283.3(TMPO):c.565+2488G>A
|
rs779219922
|
0.00001
|
NM_001032283.3(TMPO):c.565+999C>T
|
rs138259721
|
0.00001
|
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys)
|
rs759013590
|
0.00001
|
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys)
|
rs1382726763
|
0.00001
|
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile)
|
rs749969520
|
0.00001
|
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser)
|
rs200850552
|
0.00001
|
NM_001999.4(FBN2):c.1502A>C (p.His501Pro)
|
rs773361111
|
0.00001
|
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val)
|
rs753734866
|
0.00001
|
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr)
|
rs1456682417
|
0.00001
|
NM_001999.4(FBN2):c.1724-7T>G
|
rs1490528227
|
0.00001
|
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser)
|
rs1057523294
|
0.00001
|
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser)
|
rs863223553
|
0.00001
|
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys)
|
rs138963610
|
0.00001
|
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys)
|
rs747447916
|
0.00001
|
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly)
|
rs1485036763
|
0.00001
|
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu)
|
rs889066564
|
0.00001
|
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu)
|
rs547769591
|
0.00001
|
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys)
|
rs762606715
|
0.00001
|
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp)
|
rs1751527556
|
0.00001
|
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg)
|
rs749819006
|
0.00001
|
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly)
|
rs863223558
|
0.00001
|
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys)
|
rs763094104
|
0.00001
|
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val)
|
rs368766120
|
0.00001
|
NM_001999.4(FBN2):c.2863+3G>A
|
rs762144935
|
0.00001
|
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg)
|
rs547410742
|
0.00001
|
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile)
|
rs863223602
|
0.00001
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser)
|
rs138303817
|
0.00001
|
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met)
|
rs375710546
|
0.00001
|
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu)
|
rs748888503
|
0.00001
|
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr)
|
rs779690646
|
0.00001
|
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser)
|
rs749905043
|
0.00001
|
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe)
|
rs914081385
|
0.00001
|
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys)
|
rs757232992
|
0.00001
|
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met)
|
rs558632824
|
0.00001
|
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg)
|
rs1018550681
|
0.00001
|
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe)
|
rs763595235
|
0.00001
|
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)
|
rs762514246
|
0.00001
|
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr)
|
rs150872093
|
0.00001
|
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile)
|
rs1231103337
|
0.00001
|
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly)
|
rs1407868144
|
0.00001
|
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly)
|
rs766483687
|
0.00001
|
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp)
|
rs1085307489
|
0.00001
|
NM_001999.4(FBN2):c.460A>G (p.Met154Val)
|
rs878854475
|
0.00001
|
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys)
|
rs1554121027
|
0.00001
|
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser)
|
rs886059904
|
0.00001
|
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val)
|
rs770269667
|
0.00001
|
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His)
|
rs751661259
|
0.00001
|
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr)
|
rs750116860
|
0.00001
|
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn)
|
rs1018411631
|
0.00001
|
NM_001999.4(FBN2):c.5074+5G>A
|
rs374651068
|
0.00001
|
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile)
|
rs572030603
|
0.00001
|
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu)
|
rs1402545685
|
0.00001
|
NM_001999.4(FBN2):c.5201-3T>C
|
rs1057521162
|
0.00001
|
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter)
|
rs1178371653
|
0.00001
|
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser)
|
rs1033004512
|
0.00001
|
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr)
|
rs766034866
|
0.00001
|
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys)
|
rs767932789
|
0.00001
|
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp)
|
rs1010422106
|
0.00001
|
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg)
|
rs1581202795
|
0.00001
|
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
|
rs376398925
|
0.00001
|
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly)
|
rs1554119542
|
0.00001
|
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser)
|
rs863223578
|
0.00001
|
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
|
rs1314671452
|
0.00001
|
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr)
|
rs1060503501
|
0.00001
|
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp)
|
rs1437992406
|
0.00001
|
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr)
|
rs878854476
|
0.00001
|
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
|
rs547583705
|
0.00001
|
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
|
rs368453513
|
0.00001
|
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu)
|
rs863223611
|
0.00001
|
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu)
|
rs1207752455
|
0.00001
|
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys)
|
rs1425263303
|
0.00001
|
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile)
|
rs1394667470
|
0.00001
|
NM_001999.4(FBN2):c.6512-3T>C
|
rs764271022
|
0.00001
|
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys)
|
rs761101580
|
0.00001
|
NM_001999.4(FBN2):c.671T>C (p.Met224Thr)
|
rs886038798
|
0.00001
|
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val)
|
rs943225631
|
0.00001
|
NM_001999.4(FBN2):c.681G>T (p.Gly227=)
|
rs772923075
|
0.00001
|
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met)
|
rs770011418
|
0.00001
|
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr)
|
rs1208950525
|
0.00001
|
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser)
|
rs863223613
|
0.00001
|
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr)
|
rs749681942
|
0.00001
|
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val)
|
rs762058983
|
0.00001
|
NM_001999.4(FBN2):c.7345+3A>G
|
rs776419198
|
0.00001
|
NM_001999.4(FBN2):c.7471+5C>T
|
rs369559870
|
0.00001
|
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu)
|
rs776761421
|
0.00001
|
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His)
|
rs1451291857
|
0.00001
|
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg)
|
rs375790581
|
0.00001
|
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp)
|
rs746046058
|
0.00001
|
NM_001999.4(FBN2):c.7960+5G>A
|
rs863223590
|
0.00001
|
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr)
|
rs1245151549
|
0.00001
|
NM_001999.4(FBN2):c.798C>G (p.Ile266Met)
|
rs1754660877
|
0.00001
|
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser)
|
rs772227931
|
0.00001
|
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro)
|
rs863223591
|
0.00001
|
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys)
|
rs752384882
|
0.00001
|
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser)
|
rs779659640
|
0.00001
|
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys)
|
rs577855501
|
0.00001
|
NM_001999.4(FBN2):c.953-3T>A
|
rs1020574940
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.116C>T (p.Ser39Leu)
|
rs746485528
|
0.00001
|
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu)
|
rs776248526
|
0.00001
|
NM_003036.4(SKI):c.1243G>A (p.Val415Met)
|
rs770481744
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)
|
rs747693633
|
0.00001
|
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
|
rs371772366
|
0.00001
|
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala)
|
rs1057518494
|
0.00001
|
NM_003036.4(SKI):c.1474+4C>T
|
rs780930093
|
0.00001
|
NM_003036.4(SKI):c.149A>T (p.Glu50Val)
|
rs1158589836
|
0.00001
|
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu)
|
rs1057520161
|
0.00001
|
NM_003036.4(SKI):c.1548G>A (p.Pro516=)
|
rs1239990628
|
0.00001
|
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro)
|
rs1161295504
|
0.00001
|
NM_003036.4(SKI):c.1700T>C (p.Val567Ala)
|
rs887731777
|
0.00001
|
NM_003036.4(SKI):c.173C>G (p.Ala58Gly)
|
rs1638564960
|
0.00001
|
NM_003036.4(SKI):c.1767+6C>T
|
rs780191562
|
0.00001
|
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu)
|
rs761706108
|
0.00001
|
NM_003036.4(SKI):c.2014G>A (p.Val672Met)
|
rs1339249855
|
0.00001
|
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr)
|
rs1254335229
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys)
|
rs1341756519
|
0.00001
|
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln)
|
rs1038419071
|
0.00001
|
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp)
|
rs1264586139
|
0.00001
|
NM_003036.4(SKI):c.2171C>T (p.Ala724Val)
|
rs1553201577
|
0.00001
|
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp)
|
rs1381348497
|
0.00001
|
NM_003036.4(SKI):c.235A>G (p.Ile79Val)
|
rs1638568678
|
0.00001
|
NM_003036.4(SKI):c.340G>A (p.Val114Met)
|
rs1165144413
|
0.00001
|
NM_003036.4(SKI):c.435G>C (p.Glu145Asp)
|
rs1221007732
|
0.00001
|
NM_003036.4(SKI):c.45G>A (p.Pro15=)
|
rs762947696
|
0.00001
|
NM_003036.4(SKI):c.461C>T (p.Thr154Met)
|
rs1275592565
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.495C>T (p.Gly165=)
|
rs749438586
|
0.00001
|
NM_003036.4(SKI):c.562G>A (p.Ala188Thr)
|
rs377092419
|
0.00001
|
NM_003036.4(SKI):c.795G>C (p.Lys265Asn)
|
rs1457407953
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.923A>G (p.Lys308Arg)
|
rs1276404635
|
0.00001
|
NM_003036.4(SKI):c.925G>A (p.Glu309Lys)
|
rs1553190080
|
0.00001
|
NM_003036.4(SKI):c.942C>T (p.Gly314=)
|
rs1245622958
|
0.00001
|
NM_003036.4(SKI):c.974C>T (p.Ser325Phe)
|
rs779414606
|
0.00001
|
NM_003036.4(SKI):c.986C>T (p.Pro329Leu)
|
rs1407167491
|
0.00001
|
NM_003238.6(TGFB2):c.1052C>T (p.Pro351Leu)
|
rs773943154
|
0.00001
|
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met)
|
rs376159002
|
0.00001
|
NM_003238.6(TGFB2):c.156T>G (p.Ser52Arg)
|
rs1431335293
|
0.00001
|
NM_003238.6(TGFB2):c.209T>C (p.Ile70Thr)
|
rs1027195424
|
0.00001
|
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg)
|
rs371241859
|
0.00001
|
NM_003238.6(TGFB2):c.305A>G (p.Glu102Gly)
|
rs967581444
|
0.00001
|
NM_003238.6(TGFB2):c.362C>G (p.Thr121Ser)
|
rs1300823855
|
0.00001
|
NM_003238.6(TGFB2):c.371G>A (p.Arg124Lys)
|
rs863223789
|
0.00001
|
NM_003238.6(TGFB2):c.37C>A (p.His13Asn)
|
rs763918203
|
0.00001
|
NM_003238.6(TGFB2):c.493C>T (p.Arg165Trp)
|
rs773820426
|
0.00001
|
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr)
|
rs886045975
|
0.00001
|
NM_003238.6(TGFB2):c.548G>A (p.Arg183His)
|
rs773177511
|
0.00001
|
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys)
|
rs764028978
|
0.00001
|
NM_003238.6(TGFB2):c.686G>T (p.Cys229Phe)
|
rs1185241582
|
0.00001
|
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser)
|
rs769911912
|
0.00001
|
NM_003238.6(TGFB2):c.764G>A (p.Gly255Asp)
|
rs781514831
|
0.00001
|
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile)
|
rs373352179
|
0.00001
|
NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp)
|
rs1212341043
|
0.00001
|
NM_003238.6(TGFB2):c.817A>G (p.Lys273Glu)
|
rs1467391590
|
0.00001
|
NM_003238.6(TGFB2):c.826G>A (p.Gly276Arg)
|
rs1169804851
|
0.00001
|
NM_003238.6(TGFB2):c.893G>A (p.Arg298Gln)
|
rs762561484
|
0.00001
|
NM_003238.6(TGFB2):c.910T>G (p.Leu304Val)
|
rs1478901182
|
0.00001
|
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val)
|
rs866788278
|
0.00001
|
NM_003239.5(TGFB3):c.*495C>T
|
rs387906514
|
0.00001
|
NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn)
|
rs1400200743
|
0.00001
|
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys)
|
rs749485028
|
0.00001
|
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr)
|
rs1474531974
|
0.00001
|
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met)
|
rs750299821
|
0.00001
|
NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys)
|
rs1304975316
|
0.00001
|
NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala)
|
rs759168311
|
0.00001
|
NM_003239.5(TGFB3):c.11A>G (p.His4Arg)
|
rs371772819
|
0.00001
|
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu)
|
rs367967889
|
0.00001
|
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln)
|
rs1036545575
|
0.00001
|
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys)
|
rs769627183
|
0.00001
|
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys)
|
rs1555361455
|
0.00001
|
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg)
|
rs780051351
|
0.00001
|
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys)
|
rs752691299
|
0.00001
|
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln)
|
rs776388495
|
0.00001
|
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp)
|
rs546744152
|
0.00001
|
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)
|
rs142601521
|
0.00001
|
NM_003239.5(TGFB3):c.521T>A (p.Leu174His)
|
rs869025534
|
0.00001
|
NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln)
|
rs1319852054
|
0.00001
|
NM_003239.5(TGFB3):c.550C>T (p.Arg184Cys)
|
rs767125999
|
0.00001
|
NM_003239.5(TGFB3):c.56C>T (p.Thr19Met)
|
rs770761155
|
0.00001
|
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp)
|
rs368004396
|
0.00001
|
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys)
|
rs1085307755
|
0.00001
|
NM_003239.5(TGFB3):c.769G>T (p.Asp257Tyr)
|
rs2035184083
|
0.00001
|
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser)
|
rs771543236
|
0.00001
|
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg)
|
rs771638085
|
0.00001
|
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg)
|
rs2035183279
|
0.00001
|
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)
|
rs564013964
|
0.00001
|
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro)
|
rs759234781
|
0.00001
|
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser)
|
rs369281541
|
0.00001
|
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile)
|
rs1194816649
|
0.00001
|
NC_000001.10:g.(?_2160186)_(2238224_?)dup
|
|
|
NC_000001.10:g.(?_218607404)_(218607810_?)dup
|
|
|
NC_000001.10:g.(?_2234397)_(2238204_?)dup
|
|
|
NC_000001.10:g.(?_955543)_(2957600_?)del
|
|
|
NC_000005.10:g.(?_128301372)_(128312805_?)dup
|
|
|
NC_000005.10:g.(?_128318139)_(128319011_?)dup
|
|
|
NC_000005.10:g.(?_128350858)_(128351015_?)del
|
|
|
NC_000005.10:g.(?_128408654)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128408664)_(128530703_?)del
|
|
|
NC_000005.10:g.(?_128530575)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128537340)_(128537613_?)del
|
|
|
NC_000005.9:g.(?_127595147)_(127873296_?)del
|
|
|
NC_000005.9:g.(?_127622400)_(127645101_?)dup
|
|
|
NC_000005.9:g.(?_127666331)_(127799615_?)del
|
|
|
NC_000005.9:g.(?_127685029)_(127686707_?)del
|
|
|
NC_000005.9:g.(?_127689859)_(127693060_?)del
|
|
|
NC_000005.9:g.(?_127712503)_(127716032_?)del
|
|
|
NC_000012.11:g.(?_98909636)_(98909934_?)del
|
|
|
NC_000012.11:g.(?_98909646)_(98909944_?)dup
|
|
|
NC_000014.8:g.(?_76425530)_(76432058_?)dup
|
|
|
NC_000014.8:g.(?_76437449)_(76438081_?)del
|
|
|
NC_000015.9:g.(?_48703167)_(48726930_?)dup
|
|
|
NC_000015.9:g.(?_48703177)_(48726920_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48748979_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)dup
|
|
|
NC_000015.9:g.(?_48729138)_(48730134_?)dup
|
|
|
NC_000015.9:g.(?_48760115)_(48760319_?)dup
|
|
|
NM_000138.4(FBN1):c.7703_7708delTGGACG
|
rs1060501015
|
|
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1015G>T (p.Ala339Ser)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)
|
|
|
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)
|
rs750653834
|
|
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)
|
rs2043845991
|
|
NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro)
|
rs2043845566
|
|
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser)
|
rs1890260265
|
|
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
|
|
|
NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)
|
|
|
NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)
|
|
|
NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)
|
|
|
NM_000138.5(FBN1):c.1128_1147+2dup
|
|
|
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
|
|
|
NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg)
|
rs1274000764
|
|
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
|
|
|
NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)
|
|
|
NM_000138.5(FBN1):c.1147+3A>C
|
rs1597583956
|
|
NM_000138.5(FBN1):c.1156A>C (p.Asn386His)
|
rs1597581597
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1178T>C (p.Met393Thr)
|
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
NM_000138.5(FBN1):c.1196C>T (p.Pro399Leu)
|
rs1363393532
|
|
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
|
|
|
NM_000138.5(FBN1):c.1202A>G (p.Tyr401Cys)
|
rs2141331103
|
|
NM_000138.5(FBN1):c.1205C>T (p.Pro402Leu)
|
rs1597581542
|
|
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser)
|
|
|
NM_000138.5(FBN1):c.122G>C (p.Arg41Pro)
|
rs1890259872
|
|
NM_000138.5(FBN1):c.1231C>T (p.Pro411Ser)
|
rs2141331032
|
|
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu)
|
|
|
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys)
|
|
|
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val)
|
|
|
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
|
|
|
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr)
|
rs2043799392
|
|
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr)
|
rs766081333
|
|
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys)
|
rs1890259213
|
|
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
|
|
|
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
|
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys)
|
rs2141330047
|
|
NM_000138.5(FBN1):c.1390C>A (p.Arg464Ser)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys)
|
rs762400500
|
|
NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln)
|
|
|
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu)
|
rs1247260475
|
|
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu)
|
|
|
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala)
|
|
|
NM_000138.5(FBN1):c.1457G>A (p.Gly486Glu)
|
rs1597580913
|
|
NM_000138.5(FBN1):c.1468+5del
|
|
|
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1469-2_1470dup
|
rs1597580040
|
|
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala)
|
rs1382204819
|
|
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala)
|
rs2043779139
|
|
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val)
|
|
|
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys)
|
rs762111810
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg)
|
|
|
NM_000138.5(FBN1):c.1524G>C (p.Gln508His)
|
rs1566916256
|
|
NM_000138.5(FBN1):c.1526G>A (p.Gly509Asp)
|
|
|
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile)
|
rs1555400280
|
|
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu)
|
rs1057524406
|
|
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val)
|
rs794728169
|
|
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val)
|
rs2140787437
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1589-12C>G
|
|
|
NM_000138.5(FBN1):c.1589A>T (p.Asp530Val)
|
|
|
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly)
|
rs745422205
|
|
NM_000138.5(FBN1):c.1603T>G (p.Leu535Val)
|
|
|
NM_000138.5(FBN1):c.1628A>T (p.Asn543Ile)
|
rs1060501098
|
|
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
|
|
|
NM_000138.5(FBN1):c.164+3A>C
|
rs1597652265
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.165-14T>A
|
|
|
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile)
|
rs2043746162
|
|
NM_000138.5(FBN1):c.1661A>C (p.His554Pro)
|
|
|
NM_000138.5(FBN1):c.1666G>A (p.Val556Met)
|
rs1239988676
|
|
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
|
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1713A>G (p.Glu571=)
|
|
|
NM_000138.5(FBN1):c.1714+4A>G
|
rs1189850321
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn)
|
rs2141323230
|
|
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1717A>G (p.Met573Val)
|
|
|
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys)
|
rs1259811604
|
|
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
|
|
|
NM_000138.5(FBN1):c.1741A>G (p.Met581Val)
|
|
|
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1805T>G (p.Phe602Cys)
|
|
|
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu)
|
rs368283028
|
|
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg)
|
|
|
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu)
|
rs1555399833
|
|
NM_000138.5(FBN1):c.1871T>C (p.Met624Thr)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1871T>G (p.Met624Arg)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys)
|
rs2141317297
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1908A>T (p.Arg636Ser)
|
|
|
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys)
|
rs2141317254
|
|
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser)
|
rs1555399812
|
|
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
|
|
|
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu)
|
rs2141317175
|
|
NM_000138.5(FBN1):c.1960+6A>T
|
rs1200860234
|
|
NM_000138.5(FBN1):c.1960G>C (p.Asp654His)
|
rs1566913969
|
|
NM_000138.5(FBN1):c.1961-3T>C
|
|
|
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala)
|
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr)
|
rs2043686451
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe)
|
|
|
NM_000138.5(FBN1):c.1984T>G (p.Tyr662Asp)
|
|
|
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro)
|
|
|
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys)
|
rs2141315849
|
|
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln)
|
rs908212152
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.2084C>A (p.Pro695His)
|
rs1555399754
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.2099C>T (p.Pro700Leu)
|
rs2141315649
|
|
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
|
|
|
NM_000138.5(FBN1):c.210A>T (p.Gly70=)
|
|
|
NM_000138.5(FBN1):c.2112A>C (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2112A>T (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2113+4T>C
|
rs2141315610
|
|
NM_000138.5(FBN1):c.2114-5T>G
|
|
|
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val)
|
rs1426292408
|
|
NM_000138.5(FBN1):c.2140G>A (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2140G>C (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2141G>A (p.Gly714Glu)
|
rs2141308882
|
|
NM_000138.5(FBN1):c.2144C>T (p.Pro715Leu)
|
|
|
NM_000138.5(FBN1):c.2167+2dup
|
rs2043632840
|
|
NM_000138.5(FBN1):c.2167+4A>G
|
rs2141308773
|
|
NM_000138.5(FBN1):c.2168-9G>T
|
rs747772665
|
|
NM_000138.5(FBN1):c.2170A>G (p.Ile724Val)
|
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
|
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
|
rs1566912242
|
|
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2245A>C (p.Ile749Leu)
|
|
|
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val)
|
rs1555399370
|
|
NM_000138.5(FBN1):c.2254_2256del (p.Ser752del)
|
rs2043616319
|
|
NM_000138.5(FBN1):c.2275A>G (p.Thr759Ala)
|
rs2141306342
|
|
NM_000138.5(FBN1):c.2286C>G (p.Asn762Lys)
|
rs2043616066
|
|
NM_000138.5(FBN1):c.2294-11T>A
|
|
|
NM_000138.5(FBN1):c.2294-3C>A
|
|
|
NM_000138.5(FBN1):c.2294-6_2294-5del
|
rs2043607725
|
|
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val)
|
|
|
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
|
|
|
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2311C>G (p.Leu771Val)
|
rs2043607479
|
|
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser)
|
rs2043607383
|
|
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg)
|
|
|
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro)
|
rs886039058
|
|
NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del)
|
rs2043606899
|
|
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys)
|
rs1057522903
|
|
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del)
|
rs1597569606
|
|
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu)
|
|
|
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile)
|
|
|
NM_000138.5(FBN1):c.2416G>A (p.Glu806Lys)
|
rs1555399258
|
|
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)
|
rs794728191
|
|
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)
|
rs1566911886
|
|
NM_000138.5(FBN1):c.2420-8T>A
|
rs140582
|
|
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
|
|
|
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe)
|
|
|
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala)
|
|
|
NM_000138.5(FBN1):c.246C>G (p.Val82=)
|
|
|
NM_000138.5(FBN1):c.247+5G>A
|
rs2044668542
|
|
NM_000138.5(FBN1):c.247+5G>C
|
|
|
NM_000138.5(FBN1):c.247+9A>G
|
rs1298547542
|
|
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser)
|
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser)
|
|
|
NM_000138.5(FBN1):c.2480C>G (p.Ser827Cys)
|
rs375382957
|
|
NM_000138.5(FBN1):c.248C>T (p.Pro83Leu)
|
rs1206249804
|
|
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn)
|
|
|
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln)
|
|
|
NM_000138.5(FBN1):c.2539+6T>G
|
rs2043598669
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.2543C>A (p.Thr848Asn)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val)
|
rs2043596507
|
|
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser)
|
rs2141303833
|
|
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala)
|
rs2141303822
|
|
NM_000138.5(FBN1):c.2567C>T (p.Thr856Ile)
|
|
|
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln)
|
rs2044650738
|
|
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys)
|
|
|
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn)
|
|
|
NM_000138.5(FBN1):c.260A>G (p.His87Arg)
|
rs1060501080
|
|
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser)
|
|
|
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe)
|
rs2043595271
|
|
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe)
|
rs1555399153
|
|
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr)
|
rs781682561
|
|
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro)
|
rs1393818056
|
|
NM_000138.5(FBN1):c.2677+3A>G
|
rs1060501071
|
|
NM_000138.5(FBN1):c.2677+5G>A
|
rs1085307946
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu)
|
|
|
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)
|
rs1060501091
|
|
NM_000138.5(FBN1):c.2727A>G (p.Glu909=)
|
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
NM_000138.5(FBN1):c.2736_2738del (p.Asp912del)
|
rs1566910954
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2746G>C (p.Val916Leu)
|
rs373644734
|
|
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)
|
rs1555398992
|
|
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
|
|
|
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
|
|
|
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg)
|
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro)
|
|
|
NM_000138.5(FBN1):c.2854+4A>G
|
|
|
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys)
|
rs886039100
|
|
NM_000138.5(FBN1):c.2887G>A (p.Glu963Lys)
|
rs745709588
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg)
|
|
|
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr)
|
rs1597565510
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr)
|
|
|
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly)
|
|
|
NM_000138.5(FBN1):c.2935G>T (p.Ala979Ser)
|
rs748915171
|
|
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe)
|
rs2141297315
|
|
NM_000138.5(FBN1):c.2949C>A (p.Ser983=)
|
rs769307676
|
|
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro)
|
rs2141297282
|
|
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys)
|
rs2141297274
|
|
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser)
|
|
|
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp)
|
|
|
NM_000138.5(FBN1):c.2992A>G (p.Met998Val)
|
rs750727783
|
|
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile)
|
rs2043543012
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
|
|
|
NM_000138.5(FBN1):c.3035C>A (p.Pro1012His)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3035C>G (p.Pro1012Arg)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys)
|
|
|
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg)
|
|
|
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu)
|
|
|
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu)
|
rs2141297017
|
|
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala)
|
|
|
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu)
|
|
|
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=)
|
rs1566909928
|
|
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn)
|
rs749552425
|
|
NM_000138.5(FBN1):c.3136A>C (p.Asn1046His)
|
rs2141295243
|
|
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3162G>C (p.Arg1054Ser)
|
rs746021219
|
|
NM_000138.5(FBN1):c.319A>G (p.Ile107Val)
|
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
|
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3208+5G>C
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3209-3del
|
rs2141294880
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3224G>C (p.Arg1075Pro)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3227T>C (p.Ile1076Thr)
|
|
|
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
|
|
|
NM_000138.5(FBN1):c.3239T>C (p.Leu1080Pro)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3239T>G (p.Leu1080Arg)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)
|
rs1031572615
|
|
NM_000138.5(FBN1):c.3259G>A (p.Val1087Met)
|
|
|
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser)
|
rs1555398635
|
|
NM_000138.5(FBN1):c.3264C>A (p.Asn1088Lys)
|
rs2043525387
|
|
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg)
|
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
|
|
|
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
|
|
|
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile)
|
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
NM_000138.5(FBN1):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg)
|
|
|
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe)
|
rs1043235195
|
|
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=)
|
|
|
NM_000138.5(FBN1):c.3503A>T (p.Asn1168Ile)
|
|
|
NM_000138.5(FBN1):c.3506G>A (p.Gly1169Asp)
|
rs794728330
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro)
|
rs1555398517
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr)
|
|
|
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln)
|
rs2043514115
|
|
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly)
|
|
|
NM_000138.5(FBN1):c.3589+3A>G
|
rs2043513649
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3590A>T (p.Asp1197Val)
|
rs112025387
|
|
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile)
|
rs2043498514
|
|
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu)
|
|
|
NM_000138.5(FBN1):c.3626A>T (p.Glu1209Val)
|
rs1597561500
|
|
NM_000138.5(FBN1):c.3632T>C (p.Phe1211Ser)
|
|
|
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro)
|
|
|
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe)
|
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser)
|
|
|
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg)
|
rs2141291295
|
|
NM_000138.5(FBN1):c.3681T>G (p.Phe1227Leu)
|
rs2043497341
|
|
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn)
|
|
|
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser)
|
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3758A>C (p.Gln1253Pro)
|
|
|
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His)
|
rs2141289701
|
|
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser)
|
rs397515795
|
|
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys)
|
|
|
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
|
|
|
NM_000138.5(FBN1):c.380G>T (p.Gly127Val)
|
|
|
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val)
|
rs747414686
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn)
|
rs1555398171
|
|
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro)
|
rs2141287453
|
|
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val)
|
rs1060501064
|
|
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=)
|
rs1018707026
|
|
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro)
|
rs2141287376
|
|
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala)
|
|
|
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg)
|
|
|
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala)
|
|
|
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=)
|
|
|
NM_000138.5(FBN1):c.3964+5G>T
|
rs2043465883
|
|
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr)
|
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro)
|
|
|
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val)
|
|
|
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg)
|
|
|
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile)
|
rs767079851
|
|
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg)
|
rs867460746
|
|
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val)
|
rs2043402890
|
|
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)
|
rs794728217
|
|
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg)
|
rs1597553861
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn)
|
rs2043402274
|
|
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr)
|
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)
|
rs1555397656
|
|
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser)
|
rs770860280
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly)
|
rs781045902
|
|
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile)
|
|
|
NM_000138.5(FBN1):c.4210+3A>G
|
rs1457293645
|
|
NM_000138.5(FBN1):c.4210+3A>T
|
|
|
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His)
|
rs794728220
|
|
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg)
|
|
|
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu)
|
rs1555405036
|
|
NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro)
|
rs2043386032
|
|
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser)
|
rs1057517910
|
|
NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg)
|
rs1597552464
|
|
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala)
|
rs531751210
|
|
NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly)
|
rs1258352189
|
|
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
|
|
|
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
|
|
|
NM_000138.5(FBN1):c.430C>T (p.His144Tyr)
|
|
|
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
|
|
|
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
|
|
|
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.432C>G (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.4337-5C>A
|
rs370959127
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln)
|
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys)
|
rs1555397412
|
|
NM_000138.5(FBN1):c.43G>A (p.Val15Met)
|
rs1890262474
|
|
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)
|
rs780479561
|
|
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg)
|
rs747815650
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
|
rs869025407
|
|
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=)
|
|
|
NM_000138.5(FBN1):c.4459+3A>C
|
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)
|
rs1057518501
|
|
NM_000138.5(FBN1):c.4469A>G (p.Glu1490Gly)
|
rs2043341806
|
|
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)
|
rs776199613
|
|
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala)
|
rs794728224
|
|
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=)
|
rs1425634624
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn)
|
rs1288527435
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp)
|
rs1597549030
|
|
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser)
|
rs995711019
|
|
NM_000138.5(FBN1):c.4582+3A>T
|
rs777845323
|
|
NM_000138.5(FBN1):c.4582+4del
|
rs2141272841
|
|
NM_000138.5(FBN1):c.4582+5G>C
|
rs140633
|
|
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn)
|
|
|
NM_000138.5(FBN1):c.4583-10T>A
|
rs1379865323
|
|
NM_000138.5(FBN1):c.4583-12T>G
|
|
|
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala)
|
|
|
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala)
|
|
|
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp)
|
rs2043337989
|
|
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg)
|
rs2043337860
|
|
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=)
|
rs1555397167
|
|
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu)
|
rs760055928
|
|
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala)
|
|
|
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr)
|
rs142858432
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala)
|
rs1597548645
|
|
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
|
|
|
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala)
|
|
|
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser)
|
|
|
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
|
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4748-2dup
|
rs2043316552
|
|
NM_000138.5(FBN1):c.4748-4A>G
|
|
|
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr)
|
|
|
NM_000138.5(FBN1):c.474_476del (p.Arg159del)
|
rs2140711718
|
|
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu)
|
rs1555397019
|
|
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly)
|
|
|
NM_000138.5(FBN1):c.4799T>G (p.Ile1600Ser)
|
|
|
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser)
|
|
|
NM_000138.5(FBN1):c.4816+4A>G
|
rs2141269898
|
|
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn)
|
rs2043315819
|
|
NM_000138.5(FBN1):c.4817-3_4818dup
|
rs2141269780
|
|
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln)
|
|
|
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr)
|
|
|
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val)
|
|
|
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=)
|
rs2043313777
|
|
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly)
|
|
|
NM_000138.5(FBN1):c.4942+14G>A
|
|
|
NM_000138.5(FBN1):c.4942+15T>C
|
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly)
|
|
|
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro)
|
rs1060501079
|
|
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys)
|
rs886039152
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala)
|
|
|
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro)
|
|
|
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)
|
rs2043300504
|
|
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly)
|
|
|
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu)
|
|
|
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val)
|
rs759114752
|
|
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met)
|
|
|
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala)
|
|
|
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu)
|
|
|
NM_000138.5(FBN1):c.5065+2dup
|
rs1555396835
|
|
NM_000138.5(FBN1):c.5066-3T>C
|
rs2141266776
|
|
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser)
|
rs2043293815
|
|
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser)
|
rs794728201
|
|
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe)
|
|
|
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val)
|
|
|
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg)
|
rs1566934693
|
|
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser)
|
|
|
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile)
|
|
|
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del)
|
rs2043292746
|
|
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
|
|
|
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys)
|
|
|
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg)
|
|
|
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu)
|
rs2141266510
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val)
|
rs2043271430
|
|
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg)
|
|
|
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla)
|
|
|
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr)
|
rs2141264003
|
|
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=)
|
|
|
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
|
|
|
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys)
|
rs1597543452
|
|
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser)
|
|
|
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His)
|
rs2043270903
|
|
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe)
|
|
|
NM_000138.5(FBN1):c.5296+3G>C
|
|
|
NM_000138.5(FBN1):c.5296+6T>C
|
rs1555396629
|
|
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His)
|
rs1555396631
|
|
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro)
|
rs1890262148
|
|
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
|
|
|
NM_000138.5(FBN1):c.5359G>T (p.Gly1787Cys)
|
|
|
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp)
|
rs2141260386
|
|
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn)
|
rs1303042338
|
|
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile)
|
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5423-17T>G
|
|
|
NM_000138.5(FBN1):c.5423-18G>T
|
|
|
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly)
|
rs2141256144
|
|
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val)
|
|
|
NM_000138.5(FBN1):c.5439G>C (p.Gln1813His)
|
|
|
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser)
|
|
|
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val)
|
rs2141256032
|
|
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)
|
rs2043210015
|
|
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr)
|
rs1566900504
|
|
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys)
|
|
|
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys)
|
|
|
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu)
|
|
|
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser)
|
|
|
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys)
|
rs758725993
|
|
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile)
|
rs1566900477
|
|
NM_000138.5(FBN1):c.5545+3A>G
|
|
|
NM_000138.5(FBN1):c.5546-3C>G
|
|
|
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu)
|
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser)
|
rs2043179615
|
|
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr)
|
rs751472490
|
|
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val)
|
|
|
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr)
|
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
|
|
|
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg)
|
rs776310363
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser)
|
rs1597535186
|
|
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
|
|
|
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu)
|
|
|
NM_000138.5(FBN1):c.565G>T (p.Val189Leu)
|
rs2044026712
|
|
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile)
|
rs1060501056
|
|
NM_000138.5(FBN1):c.5672-4C>G
|
|
|
NM_000138.5(FBN1):c.5672-8C>G
|
rs2141250478
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu)
|
rs1555395829
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup)
|
rs1597533588
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser)
|
|
|
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn)
|
rs1201849394
|
|
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser)
|
rs781395141
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>C
|
|
|
NM_000138.5(FBN1):c.5789-10T>A
|
rs2141249325
|
|
NM_000138.5(FBN1):c.5789-11T>G
|
|
|
NM_000138.5(FBN1):c.5789-14G>A
|
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys)
|
rs2141249307
|
|
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu)
|
rs1566898444
|
|
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe)
|
rs1555395763
|
|
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile)
|
rs1566898433
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=)
|
|
|
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
|
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly)
|
rs794728242
|
|
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser)
|
rs2141248181
|
|
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
|
|
|
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)
|
rs370940450
|
|
NM_000138.5(FBN1):c.595C>G (p.Leu199Val)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His)
|
rs794728243
|
|
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe)
|
|
|
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu)
|
rs1597531779
|
|
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro)
|
rs1555395649
|
|
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His)
|
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=)
|
rs1597531690
|
|
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT
|
|
|
NM_000138.5(FBN1):c.6038-3T>C
|
rs2043117848
|
|
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)
|
|
|
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn)
|
rs1597529929
|
|
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr)
|
|
|
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro)
|
|
|
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
|
|
|
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val)
|
rs2043116688
|
|
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe)
|
rs1060501046
|
|
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)
|
rs2043116342
|
|
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=)
|
|
|
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu)
|
|
|
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro)
|
|
|
NM_000138.5(FBN1):c.623T>A (p.Leu208His)
|
rs2044025908
|
|
NM_000138.5(FBN1):c.6277G>C (p.Gly2093Arg)
|
rs1064793117
|
|
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu)
|
|
|
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu)
|
|
|
NM_000138.5(FBN1):c.6313+20T>C
|
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys)
|
rs1555395230
|
|
NM_000138.5(FBN1):c.6335C>G (p.Pro2112Arg)
|
|
|
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=)
|
rs772876451
|
|
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His)
|
|
|
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala)
|
rs1555395226
|
|
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn)
|
rs769196373
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.6359G>T (p.Gly2120Val)
|
rs1310047239
|
|
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly)
|
|
|
NM_000138.5(FBN1):c.6379+3C>G
|
rs2043081154
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His)
|
|
|
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr)
|
rs2141240519
|
|
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu)
|
|
|
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del)
|
rs1060501037
|
|
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu)
|
rs1566896102
|
|
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val)
|
|
|
NM_000138.5(FBN1):c.6422A>T (p.Gln2141Leu)
|
|
|
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile)
|
rs2043078019
|
|
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser)
|
rs2043077718
|
|
NM_000138.5(FBN1):c.6497-16_6497-15delinsCA
|
|
|
NM_000138.5(FBN1):c.6497-3C>G
|
rs2141237196
|
|
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly)
|
|
|
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu)
|
|
|
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)
|
rs1413266501
|
|
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile)
|
rs1243025749
|
|
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe)
|
|
|
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr)
|
rs2043051465
|
|
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu)
|
rs2141237135
|
|
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser)
|
rs910656654
|
|
NM_000138.5(FBN1):c.657C>A (p.His219Gln)
|
|
|
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val)
|
rs2043050574
|
|
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser)
|
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)
|
rs776823384
|
|
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr)
|
|
|
NM_000138.5(FBN1):c.6616+4C>T
|
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala)
|
rs1060501072
|
|
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser)
|
rs1407213479
|
|
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.6655T>G (p.Phe2219Val)
|
rs2043035646
|
|
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro)
|
rs780651466
|
|
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu)
|
rs1555394920
|
|
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg)
|
rs2141235108
|
|
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu)
|
|
|
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val)
|
|
|
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro)
|
rs1555394915
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
NM_000138.5(FBN1):c.669G>A (p.Met223Ile)
|
rs910928261
|
|
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
|
|
|
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu)
|
|
|
NM_000138.5(FBN1):c.6739+3G>A
|
|
|
NM_000138.5(FBN1):c.6739+4A>G
|
|
|
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT
|
|
|
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly)
|
rs397515838
|
|
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)
|
rs1597520789
|
|
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys)
|
rs1245476075
|
|
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys)
|
rs1060501025
|
|
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser)
|
|
|
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val)
|
rs2043017049
|
|
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
|
|
|
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu)
|
rs1455580241
|
|
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys)
|
rs551736585
|
|
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser)
|
|
|
NM_000138.5(FBN1):c.6871+3A>T
|
rs1555394752
|
|
NM_000138.5(FBN1):c.6872-1_6881dup
|
rs2042999380
|
|
NM_000138.5(FBN1):c.6872-9A>G
|
rs794728259
|
|
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly)
|
rs370283154
|
|
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys)
|
|
|
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
|
|
|
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
|
|
|
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe)
|
|
|
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
|
|
|
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr)
|
rs2141229967
|
|
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile)
|
|
|
NM_000138.5(FBN1):c.694C>T (p.Arg232Cys)
|
|
|
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)
|
rs794728261
|
|
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val)
|
rs794728261
|
|
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser)
|
rs397515841
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA
|
|
|
NM_000138.5(FBN1):c.6997+5G>A
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5G>T
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5dup
|
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln)
|
rs761248433
|
|
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala)
|
|
|
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys)
|
rs2141229151
|
|
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del)
|
|
|
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
|
|
|
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu)
|
rs1284375434
|
|
NM_000138.5(FBN1):c.7078A>C (p.Lys2360Gln)
|
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
NM_000138.5(FBN1):c.7096G>A (p.Asp2366Asn)
|
rs1259235311
|
|
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp)
|
|
|
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser)
|
rs2042988137
|
|
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser)
|
|
|
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg)
|
rs1060501018
|
|
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=)
|
|
|
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
|
|
|
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu)
|
rs1566893398
|
|
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg)
|
|
|
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala)
|
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile)
|
rs1169351376
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala)
|
rs768993489
|
|
NM_000138.5(FBN1):c.7235T>C (p.Val2412Ala)
|
rs1060501061
|
|
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile)
|
rs1566892910
|
|
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)
|
rs794728269
|
|
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
|
|
|
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser)
|
rs2141226971
|
|
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr)
|
rs372369490
|
|
NM_000138.5(FBN1):c.7276_7278del (p.His2426del)
|
rs2141226930
|
|
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala)
|
rs1266993955
|
|
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala)
|
rs2141226842
|
|
NM_000138.5(FBN1):c.7330+3A>G
|
rs2042974020
|
|
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)
|
rs1555394434
|
|
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del)
|
rs2042971876
|
|
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro)
|
|
|
NM_000138.5(FBN1):c.737-9A>G
|
rs1060501020
|
|
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
|
|
|
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile)
|
rs2141226387
|
|
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys)
|
rs1555394403
|
|
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)
|
|
|
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro)
|
rs770839761
|
|
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg)
|
|
|
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del)
|
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala)
|
|
|
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro)
|
rs2042947403
|
|
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val)
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe)
|
rs1223532755
|
|
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys)
|
|
|
NM_000138.5(FBN1):c.7570+3G>A
|
rs771716341
|
|
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His)
|
rs2042945976
|
|
NM_000138.5(FBN1):c.7571-13C>G
|
|
|
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys)
|
|
|
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala)
|
rs2141353825
|
|
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys)
|
rs2141221930
|
|
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His)
|
|
|
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser)
|
rs2141221883
|
|
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp)
|
|
|
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg)
|
rs1555394198
|
|
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu)
|
rs2141221864
|
|
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys)
|
rs2042941564
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.7700-10T>G
|
|
|
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
|
|
|
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly)
|
rs2141220859
|
|
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys)
|
rs2141220835
|
|
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp)
|
|
|
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys)
|
|
|
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup)
|
rs2141220752
|
|
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro)
|
|
|
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln)
|
|
|
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp)
|
|
|
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser)
|
rs2042934435
|
|
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met)
|
rs2042934389
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys)
|
rs2141220639
|
|
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys)
|
|
|
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His)
|
rs2141220609
|
|
NM_000138.5(FBN1):c.7819+4A>G
|
rs794728278
|
|
NM_000138.5(FBN1):c.7819+5G>T
|
|
|
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe)
|
|
|
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp)
|
rs2042899271
|
|
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu)
|
rs113926846
|
|
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu)
|
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
|
|
|
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His)
|
rs1597509725
|
|
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser)
|
rs982468949
|
|
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del)
|
|
|
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn)
|
rs2141214726
|
|
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)
|
rs1060501030
|
|
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe)
|
rs794728339
|
|
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro)
|
|
|
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val)
|
|
|
NM_000138.5(FBN1):c.8051+3_8051+9del
|
rs2141214499
|
|
NM_000138.5(FBN1):c.8052-6_8052-3del
|
rs2141211838
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys)
|
rs747476726
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu)
|
rs886038782
|
|
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)
|
rs753925682
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe)
|
rs1342786403
|
|
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro)
|
rs1297376845
|
|
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys)
|
rs2141211697
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)
|
rs766170041
|
|
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8195G>A (p.Ser2732Asn)
|
rs2042872305
|
|
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp)
|
rs2042871947
|
|
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)
|
rs150065311
|
|
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp)
|
rs1060501045
|
|
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala)
|
|
|
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr)
|
rs1345051744
|
|
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser)
|
rs763816801
|
|
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp)
|
|
|
NM_000138.5(FBN1):c.830A>T (p.His277Leu)
|
|
|
NM_000138.5(FBN1):c.8336A>C (p.Glu2779Ala)
|
|
|
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro)
|
rs2141209966
|
|
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val)
|
|
|
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
|
|
|
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg)
|
rs1271078955
|
|
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His)
|
|
|
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn)
|
rs2042859661
|
|
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu)
|
rs1060501049
|
|
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly)
|
|
|
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)
|
rs770484928
|
|
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu)
|
|
|
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn)
|
rs2141209854
|
|
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg)
|
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr)
|
rs2042858844
|
|
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys)
|
rs2042858812
|
|
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)
|
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro)
|
|
|
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp)
|
rs1060501084
|
|
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val)
|
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8497A>G (p.Ser2833Gly)
|
|
|
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
|
|
|
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val)
|
|
|
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
NM_000138.5(FBN1):c.8544A>C (p.Lys2848Asn)
|
rs2042856933
|
|
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly)
|
rs773653099
|
|
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His)
|
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
|
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
NM_000138.5(FBN1):c.865A>G (p.Ile289Val)
|
|
|
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr)
|
|
|
NM_000138.5(FBN1):c.872A>T (p.Glu291Val)
|
|
|
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe)
|
|
|
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu)
|
|
|
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln)
|
rs149929989
|
|
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala)
|
rs142888621
|
|
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
|
|
|
NM_000138.5(FBN1):c.905G>T (p.Gly302Val)
|
rs779866501
|
|
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys)
|
rs1566919661
|
|
NM_000138.5(FBN1):c.928A>C (p.Ser310Arg)
|
|
|
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr)
|
|
|
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr)
|
rs756687172
|
|
NM_000138.5(FBN1):c.947C>A (p.Pro316His)
|
|
|
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile)
|
rs2043911873
|
|
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
|
rs1597587453
|
|
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser)
|
rs2140787661
|
|
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
|
|
|
NM_000138.5(FBN1):c.992T>A (p.Val331Asp)
|
|
|
NM_000138.5(FBN1):c.995G>T (p.Arg332Leu)
|
rs748929044
|
|
NM_001032283.3(TMPO):c.117G>C (p.Gln39His)
|
rs1285673694
|
|
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg)
|
rs776416936
|
|
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
|
|
|
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)
|
|
|
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)
|
|
|
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)
|
|
|
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)
|
|
|
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu)
|
rs746863579
|
|
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)
|
|
|
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)
|
|
|
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)
|
|
|
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)
|
|
|
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)
|
|
|
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly)
|
rs1875778307
|
|
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)
|
|
|
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)
|
|
|
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys)
|
rs1555201635
|
|
NM_001032283.3(TMPO):c.279+4A>C
|
rs1875782829
|
|
NM_001032283.3(TMPO):c.279G>A (p.Arg93=)
|
rs759987514
|
|
NM_001032283.3(TMPO):c.280-11T>G
|
|
|
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)
|
|
|
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)
|
|
|
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)
|
|
|
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)
|
|
|
NM_001032283.3(TMPO):c.365A>T (p.Asp122Val)
|
rs904567500
|
|
NM_001032283.3(TMPO):c.373G>A (p.Val125Met)
|
rs1325674217
|
|
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys)
|
rs1259294108
|
|
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu)
|
rs886049910
|
|
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
|
|
|
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)
|
|
|
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
|
|
|
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe)
|
rs745442874
|
|
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg)
|
rs2121195483
|
|
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)
|
|
|
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)
|
|
|
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro)
|
rs770948908
|
|
NM_001032283.3(TMPO):c.478_480del (p.Thr160del)
|
|
|
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
|
|
|
NM_001032283.3(TMPO):c.482C>A (p.Pro161His)
|
|
|
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu)
|
rs1877210566
|
|
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)
|
|
|
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg)
|
rs2121195897
|
|
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)
|
|
|
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)
|
|
|
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)
|
|
|
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly)
|
rs2121093002
|
|
NM_001032283.3(TMPO):c.565+1005A>G
|
|
|
NM_001032283.3(TMPO):c.565+1017A>G
|
|
|
NM_001032283.3(TMPO):c.565+1018C>G
|
|
|
NM_001032283.3(TMPO):c.565+1026A>G
|
rs1447801243
|
|
NM_001032283.3(TMPO):c.565+1033C>T
|
rs747066370
|
|
NM_001032283.3(TMPO):c.565+1048G>A
|
rs1877293542
|
|
NM_001032283.3(TMPO):c.565+1048G>C
|
|
|
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT
|
|
|
NM_001032283.3(TMPO):c.565+1069G>A
|
|
|
NM_001032283.3(TMPO):c.565+1108G>A
|
|
|
NM_001032283.3(TMPO):c.565+1114C>T
|
rs754944353
|
|
NM_001032283.3(TMPO):c.565+1120G>C
|
|
|
NM_001032283.3(TMPO):c.565+1128G>T
|
|
|
NM_001032283.3(TMPO):c.565+1161A>G
|
rs2121202826
|
|
NM_001032283.3(TMPO):c.565+1168A>T
|
rs370585407
|
|
NM_001032283.3(TMPO):c.565+1179G>T
|
|
|
NM_001032283.3(TMPO):c.565+1257T>C
|
rs1877309895
|
|
NM_001032283.3(TMPO):c.565+1260A>C
|
rs779869644
|
|
NM_001032283.3(TMPO):c.565+1272del
|
|
|
NM_001032283.3(TMPO):c.565+1273A>G
|
rs146158243
|
|
NM_001032283.3(TMPO):c.565+1279G>A
|
|
|
NM_001032283.3(TMPO):c.565+1302T>C
|
|
|
NM_001032283.3(TMPO):c.565+1312C>G
|
|
|
NM_001032283.3(TMPO):c.565+1320A>C
|
rs747613142
|
|
NM_001032283.3(TMPO):c.565+1361T>G
|
rs185083543
|
|
NM_001032283.3(TMPO):c.565+1362_565+1363insTCA
|
rs755623404
|
|
NM_001032283.3(TMPO):c.565+1372C>T
|
|
|
NM_001032283.3(TMPO):c.565+1374A>C
|
rs760685984
|
|
NM_001032283.3(TMPO):c.565+1378G>A
|
|
|
NM_001032283.3(TMPO):c.565+1420A>G
|
|
|
NM_001032283.3(TMPO):c.565+1439A>C
|
rs1877327751
|
|
NM_001032283.3(TMPO):c.565+1467C>G
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1467C>T
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1474C>T
|
|
|
NM_001032283.3(TMPO):c.565+1474CT[2]
|
rs1359210478
|
|
NM_001032283.3(TMPO):c.565+1508_565+1509del
|
|
|
NM_001032283.3(TMPO):c.565+1536_565+1543del
|
|
|
NM_001032283.3(TMPO):c.565+1548A>G
|
rs779658294
|
|
NM_001032283.3(TMPO):c.565+1575G>A
|
rs1060502980
|
|
NM_001032283.3(TMPO):c.565+1584G>A
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>C
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>T
|
|
|
NM_001032283.3(TMPO):c.565+1587G>A
|
|
|
NM_001032283.3(TMPO):c.565+1590G>A
|
|
|
NM_001032283.3(TMPO):c.565+1595T>G
|
|
|
NM_001032283.3(TMPO):c.565+1609C>G
|
|
|
NM_001032283.3(TMPO):c.565+1611A>C
|
|
|
NM_001032283.3(TMPO):c.565+1633T>C
|
|
|
NM_001032283.3(TMPO):c.565+1643A>G
|
|
|
NM_001032283.3(TMPO):c.565+1692C>A
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1692C>T
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1708C>T
|
|
|
NM_001032283.3(TMPO):c.565+1724G>C
|
|
|
NM_001032283.3(TMPO):c.565+1725T>A
|
|
|
NM_001032283.3(TMPO):c.565+1774C>G
|
rs762576951
|
|
NM_001032283.3(TMPO):c.565+1782G>A
|
rs763388598
|
|
NM_001032283.3(TMPO):c.565+1790G>A
|
|
|
NM_001032283.3(TMPO):c.565+1795C>A
|
rs1877361719
|
|
NM_001032283.3(TMPO):c.565+1807C>G
|
|
|
NM_001032283.3(TMPO):c.565+1813TC[2]
|
rs1877364478
|
|
NM_001032283.3(TMPO):c.565+1872A>G
|
rs1060502979
|
|
NM_001032283.3(TMPO):c.565+1873T>C
|
rs1238424266
|
|
NM_001032283.3(TMPO):c.565+1878G>A
|
rs1877372287
|
|
NM_001032283.3(TMPO):c.565+1905G>T
|
rs2121207714
|
|
NM_001032283.3(TMPO):c.565+1928del
|
rs1442448525
|
|
NM_001032283.3(TMPO):c.565+1932G>A
|
|
|
NM_001032283.3(TMPO):c.565+1935T>C
|
|
|
NM_001032283.3(TMPO):c.565+1983del
|
|
|
NM_001032283.3(TMPO):c.565+1995G>A
|
|
|
NM_001032283.3(TMPO):c.565+2002C>T
|
rs2121208214
|
|
NM_001032283.3(TMPO):c.565+2014C>G
|
rs2121208283
|
|
NM_001032283.3(TMPO):c.565+2019C>A
|
rs764610443
|
|
NM_001032283.3(TMPO):c.565+2022A>G
|
|
|
NM_001032283.3(TMPO):c.565+2026T>C
|
rs1555203926
|
|
NM_001032283.3(TMPO):c.565+2029A>G
|
|
|
NM_001032283.3(TMPO):c.565+2044G>T
|
|
|
NM_001032283.3(TMPO):c.565+2058G>T
|
|
|
NM_001032283.3(TMPO):c.565+2067C>G
|
rs745484180
|
|
NM_001032283.3(TMPO):c.565+2085G>A
|
|
|
NM_001032283.3(TMPO):c.565+2101G>A
|
rs774064196
|
|
NM_001032283.3(TMPO):c.565+2101G>T
|
|
|
NM_001032283.3(TMPO):c.565+2102C>A
|
rs764177808
|
|
NM_001032283.3(TMPO):c.565+2128G>A
|
|
|
NM_001032283.3(TMPO):c.565+2169A>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>T
|
|
|
NM_001032283.3(TMPO):c.565+2172C>T
|
rs1565812072
|
|
NM_001032283.3(TMPO):c.565+2173A>T
|
|
|
NM_001032283.3(TMPO):c.565+2175A>G
|
rs1877399544
|
|
NM_001032283.3(TMPO):c.565+2175_565+2176del
|
|
|
NM_001032283.3(TMPO):c.565+2179C>T
|
|
|
NM_001032283.3(TMPO):c.565+2197T>C
|
rs1877401842
|
|
NM_001032283.3(TMPO):c.565+2220G>A
|
|
|
NM_001032283.3(TMPO):c.565+2229C>G
|
|
|
NM_001032283.3(TMPO):c.565+2247C>G
|
rs369379490
|
|
NM_001032283.3(TMPO):c.565+2251C>T
|
|
|
NM_001032283.3(TMPO):c.565+2280A>G
|
rs1877412049
|
|
NM_001032283.3(TMPO):c.565+2281C>T
|
rs1877412433
|
|
NM_001032283.3(TMPO):c.565+2284_565+2285del
|
rs767209319
|
|
NM_001032283.3(TMPO):c.565+2292G>A
|
|
|
NM_001032283.3(TMPO):c.565+2299A>G
|
rs766232053
|
|
NM_001032283.3(TMPO):c.565+2340C>G
|
rs1877418406
|
|
NM_001032283.3(TMPO):c.565+2340C>T
|
|
|
NM_001032283.3(TMPO):c.565+2346A>G
|
rs1565812255
|
|
NM_001032283.3(TMPO):c.565+2353A>G
|
rs1335078305
|
|
NM_001032283.3(TMPO):c.565+2362T>C
|
|
|
NM_001032283.3(TMPO):c.565+2367C>G
|
|
|
NM_001032283.3(TMPO):c.565+2369_565+2371del
|
rs755715445
|
|
NM_001032283.3(TMPO):c.565+2381G>C
|
rs1877422962
|
|
NM_001032283.3(TMPO):c.565+2397A>T
|
|
|
NM_001032283.3(TMPO):c.565+2412A>T
|
|
|
NM_001032283.3(TMPO):c.565+2425C>T
|
rs1268085556
|
|
NM_001032283.3(TMPO):c.565+2460G>A
|
|
|
NM_001032283.3(TMPO):c.565+2461_565+2463del
|
rs727503491
|
|
NM_001032283.3(TMPO):c.565+2472A>C
|
rs1877431244
|
|
NM_001032283.3(TMPO):c.565+2474A>C
|
rs2121211551
|
|
NM_001032283.3(TMPO):c.565+2481A>G
|
|
|
NM_001032283.3(TMPO):c.565+995A>C
|
|
|
NM_001032283.3(TMPO):c.565+995_565+998del
|
rs747695132
|
|
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)
|
|
|
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser)
|
rs1752993803
|
|
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
|
|
|
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
|
|
|
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu)
|
rs2112810970
|
|
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
|
|
|
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
|
rs1752991946
|
|
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
|
|
|
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
|
|
|
NM_001999.4(FBN2):c.1078+5G>A
|
rs1752991507
|
|
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
|
|
|
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
|
|
|
NM_001999.4(FBN2):c.1107C>T (p.Gly369=)
|
rs1060503505
|
|
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
|
|
|
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
|
|
|
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
|
|
|
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
|
|
|
NM_001999.4(FBN2):c.117del (p.Gln41fs)
|
|
|
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
|
|
|
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser)
|
rs2112810915
|
|
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
|
|
|
NM_001999.4(FBN2):c.1209dup (p.Ala404fs)
|
rs1752614082
|
|
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met)
|
rs1752569770
|
|
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
|
|
|
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
|
|
|
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
|
|
|
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
|
|
|
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser)
|
rs1554066013
|
|
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu)
|
rs774411616
|
|
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del)
|
rs730880109
|
|
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
|
|
|
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
|
|
|
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
|
|
|
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
|
|
|
NM_001999.4(FBN2):c.1443G>C (p.Gln481His)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
|
|
|
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
|
|
|
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
|
|
|
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met)
|
rs1158937805
|
|
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
|
|
|
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg)
|
rs1060503509
|
|
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
|
|
|
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
|
|
|
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val)
|
rs1752527949
|
|
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr)
|
rs762032979
|
|
NM_001999.4(FBN2):c.1603+6T>C
|
rs1752527763
|
|
NM_001999.4(FBN2):c.1604-1G>A
|
|
|
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys)
|
rs1561427124
|
|
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe)
|
rs1456682417
|
|
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
|
|
|
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp)
|
rs781622385
|
|
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys)
|
rs2126960231
|
|
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
|
|
|
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr)
|
rs1581251809
|
|
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg)
|
rs2126960181
|
|
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg)
|
rs1283833434
|
|
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr)
|
rs2126960142
|
|
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp)
|
rs2112810796
|
|
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
|
|
|
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg)
|
rs376737293
|
|
NM_001999.4(FBN2):c.1723+3A>G
|
rs2126960065
|
|
NM_001999.4(FBN2):c.1724-2A>G
|
rs876661172
|
|
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn)
|
rs1230736233
|
|
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg)
|
rs759733025
|
|
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala)
|
rs1554064868
|
|
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
|
|
|
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
|
|
|
NM_001999.4(FBN2):c.1804del (p.Cys602fs)
|
rs886038824
|
|
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val)
|
rs1581250994
|
|
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
|
|
|
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe)
|
rs1060503507
|
|
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr)
|
rs1752093236
|
|
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg)
|
rs1060503499
|
|
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
|
|
|
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser)
|
rs748715881
|
|
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln)
|
rs1561504900
|
|
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
|
|
|
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro)
|
rs863223556
|
|
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile)
|
rs2126954772
|
|
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly)
|
rs2126954710
|
|
NM_001999.4(FBN2):c.2034G>T (p.Gly678=)
|
rs1357250229
|
|
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr)
|
rs1752034896
|
|
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu)
|
rs1581249148
|
|
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser)
|
rs1752034485
|
|
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)
|
rs869025430
|
|
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly)
|
rs781745158
|
|
NM_001999.4(FBN2):c.206C>T (p.Ala69Val)
|
rs1756883252
|
|
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
|
|
|
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
|
|
|
NM_001999.4(FBN2):c.208G>C (p.Val70Leu)
|
rs1756883199
|
|
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
|
|
|
NM_001999.4(FBN2):c.2095+1G>A
|
|
|
NM_001999.4(FBN2):c.2095+2_2095+7del
|
rs1752033073
|
|
NM_001999.4(FBN2):c.2095+5G>A
|
rs2126954577
|
|
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
|
|
|
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
|
|
|
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys)
|
rs748861935
|
|
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
|
|
|
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
|
|
|
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg)
|
rs1006288282
|
|
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
|
|
|
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
|
|
|
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
|
|
|
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn)
|
rs2126947449
|
|
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser)
|
rs1554064242
|
|
NM_001999.4(FBN2):c.2248+4G>A
|
rs752467521
|
|
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg)
|
rs145259927
|
|
NM_001999.4(FBN2):c.2303-2A>G
|
rs1751723379
|
|
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
|
|
|
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
|
|
|
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
|
|
|
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg)
|
rs1751722668
|
|
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
|
|
|
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg)
|
rs886038969
|
|
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
|
|
|
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2428+1G>T
|
rs1751719964
|
|
NM_001999.4(FBN2):c.2429-1G>A
|
rs1270553787
|
|
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
|
|
|
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu)
|
rs2126937089
|
|
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
|
|
|
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met)
|
rs957177447
|
|
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr)
|
rs751263399
|
|
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
|
|
|
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala)
|
rs878854474
|
|
NM_001999.4(FBN2):c.254+5G>A
|
|
|
NM_001999.4(FBN2):c.2554+5G>T
|
rs2126936993
|
|
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)
|
rs148598779
|
|
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)
|
rs148598779
|
|
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
|
|
|
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp)
|
rs756569459
|
|
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
|
|
|
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg)
|
rs1751526889
|
|
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
|
|
|
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
|
|
|
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
|
|
|
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg)
|
rs1168151418
|
|
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
|
|
|
NM_001999.4(FBN2):c.2674+6A>T
|
rs1381952326
|
|
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
|
|
|
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
|
|
|
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
|
|
|
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
|
|
|
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser)
|
rs863223559
|
|
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
|
|
|
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser)
|
rs779579749
|
|
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
|
|
|
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
|
|
|
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val)
|
rs1751304507
|
|
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
|
|
|
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg)
|
rs1751304438
|
|
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly)
|
rs863223560
|
|
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
|
|
|
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg)
|
rs766590294
|
|
NM_001999.4(FBN2):c.2863+13T>G
|
|
|
NM_001999.4(FBN2):c.2863+19G>A
|
|
|
NM_001999.4(FBN2):c.2863+5G>A
|
|
|
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
|
|
|
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
|
|
|
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu)
|
rs1025184275
|
|
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys)
|
rs2126919911
|
|
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp)
|
rs1554124089
|
|
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
|
|
|
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg)
|
rs1751283602
|
|
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro)
|
rs1751282501
|
|
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala)
|
rs1756849074
|
|
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg)
|
rs749854367
|
|
NM_001999.4(FBN2):c.2996G>A (p.Arg999His)
|
rs1342942240
|
|
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp)
|
rs1064797312
|
|
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
|
|
|
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
|
|
|
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met)
|
rs1388119592
|
|
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
|
|
|
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr)
|
rs375187779
|
|
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
|
rs984782865
|
|
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg)
|
rs1756848859
|
|
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile)
|
rs952236163
|
|
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu)
|
rs754884110
|
|
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln)
|
rs773473369
|
|
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
|
|
|
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
|
|
|
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
|
|
|
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys)
|
rs869025427
|
|
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs)
|
rs1554123702
|
|
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg)
|
rs2112809157
|
|
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
|
|
|
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His)
|
rs2126913738
|
|
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
|
|
|
NM_001999.4(FBN2):c.3217+1G>A
|
rs2126913719
|
|
NM_001999.4(FBN2):c.3217+6T>C
|
|
|
NM_001999.4(FBN2):c.3218-5T>G
|
rs1554123647
|
|
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val)
|
rs1218249269
|
|
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp)
|
rs1751116346
|
|
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
|
rs1751115198
|
|
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
|
rs148127874
|
|
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)
|
rs1751112929
|
|
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
|
|
|
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
|
|
|
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
|
|
|
NM_001999.4(FBN2):c.336C>T (p.Val112=)
|
|
|
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
|
|
|
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)
|
rs2126903780
|
|
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
|
|
|
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
|
|
|
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser)
|
rs1750918793
|
|
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp)
|
rs1750918059
|
|
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
|
|
|
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val)
|
rs1042256829
|
|
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
|
|
|
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
|
|
|
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val)
|
rs876661190
|
|
NM_001999.4(FBN2):c.3472+3A>G
|
rs1750917005
|
|
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)
|
rs886039059
|
|
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
|
|
|
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
|
|
|
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser)
|
rs1756677980
|
|
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp)
|
rs931046977
|
|
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
|
|
|
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
|
|
|
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr)
|
rs1389689622
|
|
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro)
|
rs1581224796
|
|
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
|
|
|
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
|
|
|
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala)
|
rs1047464870
|
|
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
|
|
|
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser)
|
rs778784375
|
|
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001999.4(FBN2):c.3725-3C>T
|
|
|
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
|
|
|
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr)
|
rs1306804578
|
|
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly)
|
rs1750812827
|
|
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
|
|
|
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile)
|
rs1554122848
|
|
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
|
|
|
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
|
|
|
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
|
|
|
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly)
|
rs1561776564
|
|
NM_001999.4(FBN2):c.3847+5A>G
|
rs1444917250
|
|
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser)
|
rs747182286
|
|
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
|
|
|
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys)
|
rs755489065
|
|
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile)
|
rs1554122803
|
|
NM_001999.4(FBN2):c.3974-3T>A
|
|
|
NM_001999.4(FBN2):c.3974-7T>G
|
|
|
NM_001999.4(FBN2):c.3974-9A>G
|
|
|
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
|
|
|
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp)
|
rs1394998823
|
|
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
|
|
|
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
|
|
|
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
|
|
|
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
|
|
|
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
|
|
|
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg)
|
rs1750789808
|
|
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)
|
rs971727405
|
|
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg)
|
rs1255550274
|
|
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
|
|
|
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val)
|
rs1750732608
|
|
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
|
|
|
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys)
|
rs866719857
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala)
|
rs1060503506
|
|
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu)
|
rs863223607
|
|
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
|
|
|
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
|
|
|
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
|
|
|
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
|
|
|
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile)
|
rs1750666696
|
|
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
|
|
|
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
|
|
|
NM_001999.4(FBN2):c.436+4T>G
|
|
|
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
|
|
|
NM_001999.4(FBN2):c.437-1G>A
|
rs1180913191
|
|
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly)
|
rs1750620648
|
|
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu)
|
rs1750620267
|
|
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
|
|
|
NM_001999.4(FBN2):c.4471+6T>G
|
|
|
NM_001999.4(FBN2):c.4472-2A>G
|
rs1554121102
|
|
NM_001999.4(FBN2):c.4472-3C>T
|
|
|
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
|
|
|
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile)
|
rs779482726
|
|
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala)
|
rs1581212696
|
|
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
|
|
|
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg)
|
rs2126854542
|
|
NM_001999.4(FBN2):c.4594+3A>G
|
|
|
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)
|
rs863223574
|
|
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile)
|
rs1554121038
|
|
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
|
|
|
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
|
|
|
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
|
|
|
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
|
|
|
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
|
|
|
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
|
|
|
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
|
|
|
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe)
|
rs535517270
|
|
NM_001999.4(FBN2):c.4717+8A>G
|
rs1750262267
|
|
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala)
|
rs1581208599
|
|
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His)
|
rs1060503508
|
|
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
|
|
|
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg)
|
rs1295579995
|
|
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro)
|
rs886038891
|
|
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg)
|
rs2126847622
|
|
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
|
|
|
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
|
|
|
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile)
|
rs1403929477
|
|
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro)
|
rs1561765113
|
|
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
|
|
|
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
|
|
|
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
|
|
|
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
|
|
|
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg)
|
rs863223609
|
|
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
|
|
|
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp)
|
rs1554120359
|
|
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His)
|
rs1554120349
|
|
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys)
|
rs769474473
|
|
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly)
|
rs863223577
|
|
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr)
|
rs1554120340
|
|
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
|
|
|
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
|
|
|
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
|
|
|
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
|
|
|
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
|
|
|
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser)
|
rs1749990667
|
|
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
|
|
|
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe)
|
rs1554120186
|
|
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
|
|
|
NM_001999.4(FBN2):c.5200+5_5200+10del
|
|
|
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)
|
rs886038942
|
|
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
|
|
|
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
|
|
|
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr)
|
rs748580764
|
|
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile)
|
rs2126842957
|
|
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val)
|
rs2126842904
|
|
NM_001999.4(FBN2):c.531A>G (p.Gln177=)
|
rs863223544
|
|
NM_001999.4(FBN2):c.532+1G>A
|
|
|
NM_001999.4(FBN2):c.533-11T>A
|
|
|
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
|
|
|
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
|
|
|
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser)
|
rs1554120093
|
|
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
|
|
|
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
|
|
|
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
|
|
|
NM_001999.4(FBN2):c.5423-17A>G
|
rs2126839337
|
|
NM_001999.4(FBN2):c.5423-1G>C
|
|
|
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly)
|
rs1749861614
|
|
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
|
|
|
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala)
|
rs1561760487
|
|
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
|
|
|
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
|
|
|
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
|
|
|
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
|
|
|
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg)
|
rs1749856162
|
|
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
|
|
|
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
|
|
|
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
|
|
|
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly)
|
rs1749848470
|
|
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
|
|
|
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys)
|
rs1201284691
|
|
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser)
|
rs2126838900
|
|
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
|
|
|
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln)
|
rs1447600676
|
|
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
|
|
|
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
|
|
|
NM_001999.4(FBN2):c.55G>A (p.Val19Met)
|
rs1357709072
|
|
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser)
|
rs1749845932
|
|
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg)
|
rs1060503504
|
|
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg)
|
rs1248957106
|
|
NM_001999.4(FBN2):c.5674+4A>G
|
rs778011355
|
|
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
|
|
|
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln)
|
rs767932789
|
|
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
|
|
|
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
|
|
|
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
|
|
|
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
|
|
|
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
|
|
|
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
|
|
|
NM_001999.4(FBN2):c.5800+6A>T
|
rs2126838039
|
|
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del)
|
rs1554119538
|
|
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys)
|
rs1561495424
|
|
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
|
|
|
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu)
|
rs1749761553
|
|
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr)
|
rs1749718755
|
|
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp)
|
rs1561757902
|
|
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly)
|
rs1749717138
|
|
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser)
|
rs754066538
|
|
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
|
|
|
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
|
|
|
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
|
|
|
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu)
|
rs776937649
|
|
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
|
|
|
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val)
|
rs1202188687
|
|
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met)
|
rs770585421
|
|
NM_001999.4(FBN2):c.6046+2T>C
|
rs1581200259
|
|
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
|
rs1749711886
|
|
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly)
|
rs1749697561
|
|
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
|
|
|
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly)
|
rs886038814
|
|
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
|
|
|
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
|
|
|
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
|
|
|
NM_001999.4(FBN2):c.6167-1G>C
|
|
|
NM_001999.4(FBN2):c.6167-3C>A
|
rs878854477
|
|
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
|
|
|
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala)
|
rs753305406
|
|
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg)
|
rs2126822046
|
|
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
|
|
|
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe)
|
rs878854478
|
|
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
|
|
|
NM_001999.4(FBN2):c.628+3A>G
|
|
|
NM_001999.4(FBN2):c.628+4A>C
|
|
|
NM_001999.4(FBN2):c.629-3C>G
|
rs376491648
|
|
NM_001999.4(FBN2):c.6292+6A>G
|
|
|
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His)
|
rs746758405
|
|
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu)
|
rs2126821327
|
|
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
|
|
|
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
|
|
|
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser)
|
rs1266965965
|
|
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
|
|
|
NM_001999.4(FBN2):c.6445+3A>G
|
|
|
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
|
|
|
NM_001999.4(FBN2):c.6511+4C>A
|
rs368610241
|
|
NM_001999.4(FBN2):c.6512-2A>G
|
rs863223580
|
|
NM_001999.4(FBN2):c.6512-2A>T
|
|
|
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser)
|
rs1561750168
|
|
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
|
|
|
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
|
|
|
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
|
rs200489152
|
|
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
|
|
|
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys)
|
rs2126818692
|
|
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
|
|
|
NM_001999.4(FBN2):c.6757+2C>T
|
|
|
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val)
|
rs1749185390
|
|
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala)
|
rs1060503500
|
|
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
|
|
|
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
|
|
|
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile)
|
rs1581189176
|
|
NM_001999.4(FBN2):c.6880+6G>A
|
|
|
NM_001999.4(FBN2):c.6880+6G>C
|
rs1271195305
|
|
NM_001999.4(FBN2):c.6881-1G>A
|
|
|
NM_001999.4(FBN2):c.6881-1G>T
|
|
|
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys)
|
rs1419124277
|
|
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)
|
rs199560824
|
|
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
|
|
|
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
|
|
|
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
|
|
|
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=)
|
rs1274780641
|
|
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala)
|
rs1554117875
|
|
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter)
|
rs1287289593
|
|
NM_001999.4(FBN2):c.7011A>G (p.Val2337=)
|
rs2126816680
|
|
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
|
|
|
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser)
|
rs1581184433
|
|
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala)
|
rs764330020
|
|
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
|
|
|
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
|
|
|
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
|
|
|
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
|
|
|
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
|
|
|
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)
|
rs1765463264
|
|
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val)
|
rs754380350
|
|
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile)
|
rs768193630
|
|
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
|
|
|
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
|
|
|
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
|
|
|
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
|
|
|
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
|
|
|
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
|
|
|
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
|
|
|
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val)
|
rs2126809569
|
|
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val)
|
rs886038938
|
|
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro)
|
rs2126809547
|
|
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
|
|
|
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
|
|
|
NM_001999.4(FBN2):c.7345+6G>A
|
|
|
NM_001999.4(FBN2):c.7346-3C>T
|
rs1439389862
|
|
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile)
|
rs1019541548
|
|
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
|
|
|
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu)
|
rs1765435966
|
|
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
|
|
|
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
|
|
|
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala)
|
rs2126808746
|
|
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
|
|
|
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro)
|
rs1056653104
|
|
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr)
|
rs779483120
|
|
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
|
|
|
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp)
|
rs2112811070
|
|
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
|
|
|
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=)
|
rs1060503502
|
|
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
|
|
|
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
|
|
|
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
|
|
|
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val)
|
rs768941456
|
|
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
|
rs894902794
|
|
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
|
|
|
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
|
|
|
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter)
|
rs1453328210
|
|
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe)
|
rs755760127
|
|
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
|
|
|
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
|
|
|
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
|
|
|
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
|
|
|
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly)
|
rs863223589
|
|
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
|
|
|
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr)
|
rs1765342729
|
|
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val)
|
rs572453085
|
|
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg)
|
rs2126805299
|
|
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala)
|
rs1447205905
|
|
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser)
|
rs762538141
|
|
NM_001999.4(FBN2):c.7840+1G>A
|
|
|
NM_001999.4(FBN2):c.7841-3C>T
|
rs1554116417
|
|
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu)
|
rs1554116412
|
|
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=)
|
rs772818240
|
|
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
|
|
|
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter)
|
rs1554116411
|
|
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
|
|
|
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala)
|
rs1060503512
|
|
NM_001999.4(FBN2):c.7959C>A (p.Val2653=)
|
rs773175830
|
|
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
|
|
|
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
|
|
|
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro)
|
rs1765039937
|
|
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
|
|
|
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser)
|
rs1229950368
|
|
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
|
|
|
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser)
|
rs1765038866
|
|
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
|
|
|
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
|
|
|
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu)
|
rs749888746
|
|
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu)
|
rs863223597
|
|
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe)
|
rs2126795619
|
|
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr)
|
rs1387382061
|
|
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp)
|
rs1765035115
|
|
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr)
|
rs2126795584
|
|
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
|
|
|
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp)
|
rs776788539
|
|
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
|
|
|
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
|
|
|
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
|
|
|
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser)
|
rs1182788018
|
|
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser)
|
rs1754660014
|
|
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys)
|
rs758149534
|
|
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=)
|
rs1057523293
|
|
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val)
|
rs1561736199
|
|
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser)
|
rs1765029329
|
|
NM_001999.4(FBN2):c.8192+6G>A
|
rs752575354
|
|
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
|
|
|
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=)
|
rs775766250
|
|
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
|
|
|
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
|
|
|
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala)
|
rs1158966833
|
|
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
|
|
|
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile)
|
rs1764982741
|
|
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr)
|
rs1308073420
|
|
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
|
|
|
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
|
|
|
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
|
|
|
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
|
|
|
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
|
|
|
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
|
|
|
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
|
|
|
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
|
|
|
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe)
|
rs1764918027
|
|
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
|
|
|
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
|
|
|
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met)
|
rs2126791949
|
|
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
|
|
|
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His)
|
rs1161871936
|
|
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter)
|
rs1060503503
|
|
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val)
|
rs1249852107
|
|
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
|
|
|
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly)
|
rs1764914190
|
|
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile)
|
rs2126791814
|
|
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
|
|
|
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg)
|
rs2127056896
|
|
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)
|
rs762956345
|
|
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val)
|
rs1554115164
|
|
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
|
|
|
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn)
|
rs2126791602
|
|
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)
|
rs1754069364
|
|
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
|
rs779659640
|
|
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
|
|
|
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile)
|
rs887275019
|
|
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
|
|
|
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
|
|
|
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
|
|
|
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
|
|
|
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr)
|
rs863223616
|
|
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser)
|
rs1554069994
|
|
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
|
|
|
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
|
|
|
NM_001999.4(FBN2):c.93G>C (p.Gln31His)
|
rs371491169
|
|
NM_001999.4(FBN2):c.952+3G>T
|
rs1554069982
|
|
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
|
|
|
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser)
|
rs2127000101
|
|
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
|
|
|
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
|
|
|
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe)
|
rs557788926
|
|
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
|
|
|
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
|
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr)
|
rs755862763
|
|
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
|
|
|
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
|
|
|
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln)
|
rs1640467596
|
|
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
|
|
|
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
|
|
|
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile)
|
rs763338270
|
|
NM_003036.4(SKI):c.1095+5T>C
|
rs2100916508
|
|
NM_003036.4(SKI):c.1095+6G>A
|
|
|
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
|
|
|
NM_003036.4(SKI):c.1096-15A>G
|
|
|
NM_003036.4(SKI):c.1096-6C>G
|
|
|
NM_003036.4(SKI):c.1096-8C>G
|
|
|
NM_003036.4(SKI):c.10G>C (p.Ala4Pro)
|
rs1638560343
|
|
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
|
|
|
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly)
|
rs749507746
|
|
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys)
|
rs1038237858
|
|
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
|
|
|
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser)
|
rs1242691039
|
|
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
|
|
|
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
|
|
|
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe)
|
rs371268096
|
|
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser)
|
rs1640476669
|
|
NM_003036.4(SKI):c.11C>T (p.Ala4Val)
|
rs1085307767
|
|
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
|
|
|
NM_003036.4(SKI):c.1211+2T>G
|
|
|
NM_003036.4(SKI):c.1212-3C>T
|
|
|
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu)
|
rs2100918174
|
|
NM_003036.4(SKI):c.123C>G (p.Arg41=)
|
rs1233566903
|
|
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
|
|
|
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
|
|
|
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
|
|
|
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu)
|
rs748787050
|
|
NM_003036.4(SKI):c.1298del (p.Pro433fs)
|
|
|
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr)
|
rs1247637685
|
|
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
|
|
|
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
|
rs575093513
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
|
rs1569860183
|
|
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser)
|
rs2100918643
|
|
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr)
|
rs1417738788
|
|
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp)
|
rs1640495570
|
|
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
|
|
|
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
|
|
|
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu)
|
rs1640496768
|
|
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
|
|
|
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
|
|
|
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
|
|
|
NM_003036.4(SKI):c.1411G>A (p.Val471Met)
|
rs745717087
|
|
NM_003036.4(SKI):c.1418C>T (p.Ala473Val)
|
rs1198385228
|
|
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
|
|
|
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del)
|
rs762410895
|
|
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
|
|
|
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
|
|
|
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
|
|
|
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
|
|
|
NM_003036.4(SKI):c.1485_1487del (p.Leu496del)
|
rs1640510054
|
|
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
|
|
|
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
|
|
|
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
|
|
|
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
|
|
|
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)
|
rs775800782
|
|
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu)
|
rs376322470
|
|
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser)
|
rs774937962
|
|
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
|
|
|
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
|
|
|
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del)
|
rs863223725
|
|
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
|
|
|
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
|
|
|
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
|
|
|
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
|
|
|
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
|
|
|
NM_003036.4(SKI):c.163G>A (p.Ala55Thr)
|
rs769506718
|
|
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser)
|
rs1434790266
|
|
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys)
|
rs1225179301
|
|
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
|
|
|
NM_003036.4(SKI):c.1690C>G (p.His564Asp)
|
rs1640518223
|
|
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
|
|
|
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
|
|
|
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr)
|
rs1640519904
|
|
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
|
|
|
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
|
|
|
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg)
|
rs1569862379
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1767+1G>C
|
|
|
NM_003036.4(SKI):c.1768-3C>T
|
|
|
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln)
|
rs1569865485
|
|
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del)
|
rs1640564388
|
|
NM_003036.4(SKI):c.1786G>T (p.Val596Leu)
|
rs774196267
|
|
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
|
|
|
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp)
|
rs1640565489
|
|
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys)
|
rs863223727
|
|
NM_003036.4(SKI):c.182C>T (p.Pro61Leu)
|
rs1557806444
|
|
NM_003036.4(SKI):c.1848C>G (p.Ile616Met)
|
rs1044806468
|
|
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
|
|
|
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
|
|
|
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
|
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1879A>G (p.Met627Val)
|
rs2100924200
|
|
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
|
|
|
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
|
|
|
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys)
|
rs1640570925
|
|
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup)
|
rs1553189874
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
|
|
|
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
|
|
|
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
|
|
|
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
|
|
|
NM_003036.4(SKI):c.196G>C (p.Ala66Pro)
|
rs1212316098
|
|
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
|
|
|
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr)
|
rs1569866460
|
|
NM_003036.4(SKI):c.1998+1G>T
|
|
|
NM_003036.4(SKI):c.1998+6C>T
|
rs1265118842
|
|
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
|
|
|
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
|
|
|
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg)
|
rs1060502673
|
|
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
|
|
|
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
|
|
|
NM_003036.4(SKI):c.2028C>G (p.His676Gln)
|
rs1203179478
|
|
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
|
|
|
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
|
|
|
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
|
|
|
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
|
|
|
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu)
|
rs1021794039
|
|
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
|
|
|
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
|
|
|
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
|
|
|
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
|
|
|
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp)
|
rs1347331671
|
|
NM_003036.4(SKI):c.2092C>G (p.Leu698Val)
|
rs766929334
|
|
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly)
|
rs1553201549
|
|
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly)
|
rs2100926034
|
|
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
|
|
|
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu)
|
rs1640595714
|
|
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys)
|
rs1640595885
|
|
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
|
|
|
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=)
|
rs1557854927
|
|
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly)
|
rs863223721
|
|
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=)
|
rs1308786369
|
|
NM_003036.4(SKI):c.2165G>T (p.Gly722Val)
|
rs1488554459
|
|
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln)
|
rs1640597058
|
|
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
|
|
|
NM_003036.4(SKI):c.217G>A (p.Val73Met)
|
|
|
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
|
|
|
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
|
|
|
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=)
|
rs1640597997
|
|
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
|
|
|
NM_003036.4(SKI):c.229C>T (p.Pro77Ser)
|
rs1370601989
|
|
NM_003036.4(SKI):c.22C>G (p.Arg8Gly)
|
rs1254990952
|
|
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup)
|
rs746731483
|
|
NM_003036.4(SKI):c.241C>G (p.Pro81Ala)
|
rs778291636
|
|
NM_003036.4(SKI):c.248C>T (p.Pro83Leu)
|
rs1060502672
|
|
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
|
|
|
NM_003036.4(SKI):c.271T>G (p.Phe91Val)
|
rs1638570021
|
|
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
|
|
|
NM_003036.4(SKI):c.278C>T (p.Pro93Leu)
|
rs749071609
|
|
NM_003036.4(SKI):c.304G>A (p.Glu102Lys)
|
rs1638570854
|
|
NM_003036.4(SKI):c.311T>C (p.Val104Ala)
|
rs886039149
|
|
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
|
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_003036.4(SKI):c.358C>T (p.Arg120Cys)
|
rs1569658411
|
|
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
|
|
|
NM_003036.4(SKI):c.36G>C (p.Gln12His)
|
|
|
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
|
|
|
NM_003036.4(SKI):c.414G>T (p.Gln138His)
|
|
|
NM_003036.4(SKI):c.419A>C (p.Asn140Thr)
|
rs2100790187
|
|
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
|
|
|
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
|
|
|
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
|
|
|
NM_003036.4(SKI):c.459C>T (p.Cys153=)
|
rs1638575263
|
|
NM_003036.4(SKI):c.463G>T (p.Ala155Ser)
|
rs867726673
|
|
NM_003036.4(SKI):c.471G>C (p.Gln157His)
|
|
|
NM_003036.4(SKI):c.487G>A (p.Val163Ile)
|
rs878854599
|
|
NM_003036.4(SKI):c.493G>A (p.Gly165Ser)
|
rs1569658999
|
|
NM_003036.4(SKI):c.547G>A (p.Glu183Lys)
|
rs1290478159
|
|
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys)
|
rs758199656
|
|
NM_003036.4(SKI):c.574G>A (p.Gly192Ser)
|
rs1638578159
|
|
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys)
|
rs1474048036
|
|
NM_003036.4(SKI):c.587C>T (p.Pro196Leu)
|
rs1638578545
|
|
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
|
|
|
NM_003036.4(SKI):c.602A>G (p.Lys201Arg)
|
rs2100790534
|
|
NM_003036.4(SKI):c.613G>A (p.Ala205Thr)
|
rs2100790567
|
|
NM_003036.4(SKI):c.622G>C (p.Ala208Pro)
|
rs761138564
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
|
|
|
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
|
|
|
NM_003036.4(SKI):c.655C>T (p.Arg219Cys)
|
rs1226163559
|
|
NM_003036.4(SKI):c.687G>C (p.Lys229Asn)
|
rs750391739
|
|
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup)
|
rs1638560188
|
|
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
|
|
|
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
|
|
|
NM_003036.4(SKI):c.723C>G (p.Ser241Arg)
|
rs2100790799
|
|
NM_003036.4(SKI):c.757A>T (p.Met253Leu)
|
rs767352419
|
|
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
|
|
|
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
|
|
|
NM_003036.4(SKI):c.767C>T (p.Pro256Leu)
|
rs2100790888
|
|
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr)
|
rs1557807366
|
|
NM_003036.4(SKI):c.83C>T (p.Ser28Phe)
|
rs1569656949
|
|
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
|
|
|
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
|
|
|
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
|
|
|
NM_003036.4(SKI):c.853A>T (p.Ile285Phe)
|
rs2100791027
|
|
NM_003036.4(SKI):c.863G>T (p.Ser288Ile)
|
rs2100791046
|
|
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys)
|
rs1638585706
|
|
NM_003036.4(SKI):c.879C>T (p.Gly293=)
|
rs543890429
|
|
NM_003036.4(SKI):c.896G>C (p.Arg299Pro)
|
rs1482824984
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
|
|
|
NM_003036.4(SKI):c.8C>G (p.Ala3Gly)
|
rs1553189801
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
|
|
|
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
|
|
|
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
|
|
|
NM_003036.4(SKI):c.968G>T (p.Arg323Leu)
|
rs1638589251
|
|
NM_003036.4(SKI):c.969G>C (p.Arg323=)
|
rs747642639
|
|
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|
NM_003238.6(TGFB2):c.1009G>A (p.Glu337Lys)
|
rs1476361240
|
|
NM_003238.6(TGFB2):c.100C>T (p.Arg34Cys)
|
rs1571820734
|
|
NM_003238.6(TGFB2):c.1021T>C (p.Tyr341His)
|
|
|
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr)
|
rs779554274
|
|
NM_003238.6(TGFB2):c.1033T>C (p.Phe345Leu)
|
rs748732392
|
|
NM_003238.6(TGFB2):c.1043G>A (p.Gly348Glu)
|
rs1660008608
|
|
NM_003238.6(TGFB2):c.1048T>C (p.Cys350Arg)
|
|
|
NM_003238.6(TGFB2):c.1062G>A (p.Trp354Ter)
|
rs1558264130
|
|
NM_003238.6(TGFB2):c.1070A>G (p.Asp357Gly)
|
|
|
NM_003238.6(TGFB2):c.1086+1G>A
|
rs1571904338
|
|
NM_003238.6(TGFB2):c.1100A>G (p.Tyr367Cys)
|
|
|
NM_003238.6(TGFB2):c.1105A>G (p.Thr369Ala)
|
|
|
NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly)
|
|
|
NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)
|
|
|
NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln)
|
|
|
NM_003238.6(TGFB2):c.1136G>T (p.Cys379Phe)
|
rs1660141597
|
|
NM_003238.6(TGFB2):c.1140C>A (p.Cys380Ter)
|
|
|
NM_003238.6(TGFB2):c.1150G>C (p.Asp384His)
|
|
|
NM_003238.6(TGFB2):c.116C>T (p.Ala39Val)
|
rs2102527478
|
|
NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_003238.6(TGFB2):c.1221T>G (p.Ile407Met)
|
rs2102634488
|
|
NM_003238.6(TGFB2):c.1235A>C (p.Lys412Thr)
|
rs2102634517
|
|
NM_003238.6(TGFB2):c.1236dup (p.Cys413fs)
|
|
|
NM_003238.6(TGFB2):c.1237T>C (p.Cys413Arg)
|
|
|
NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)
|
|
|
NM_003238.6(TGFB2):c.125G>A (p.Gly42Glu)
|
rs1558220033
|
|
NM_003238.6(TGFB2):c.137G>A (p.Ser46Asn)
|
rs1318854254
|
|
NM_003238.6(TGFB2):c.13G>C (p.Val5Leu)
|
rs1571820552
|
|
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg)
|
rs1553292088
|
|
NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile)
|
|
|
NM_003238.6(TGFB2):c.164A>G (p.Glu55Gly)
|
rs1656700353
|
|
NM_003238.6(TGFB2):c.172C>T (p.Pro58Ser)
|
|
|
NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)
|
|
|
NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro)
|
rs1553292060
|
|
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser)
|
rs747128130
|
|
NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu)
|
|
|
NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)
|
|
|
NM_003238.6(TGFB2):c.208A>G (p.Ile70Val)
|
rs1656702743
|
|
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr)
|
rs765477784
|
|
NM_003238.6(TGFB2):c.218G>C (p.Ser73Thr)
|
|
|
NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr)
|
|
|
NM_003238.6(TGFB2):c.245C>T (p.Ala82Val)
|
rs1571821016
|
|
NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg)
|
|
|
NM_003238.6(TGFB2):c.268G>C (p.Glu90Gln)
|
rs749309877
|
|
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)
|
rs398122883
|
|
NM_003238.6(TGFB2):c.299C>A (p.Ala100Asp)
|
|
|
NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del)
|
rs1656708526
|
|
NM_003238.6(TGFB2):c.305A>T (p.Glu102Val)
|
rs967581444
|
|
NM_003238.6(TGFB2):c.306G>T (p.Glu102Asp)
|
|
|
NM_003238.6(TGFB2):c.322A>T (p.Met108Leu)
|
rs1060501982
|
|
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu)
|
rs1553292141
|
|
NM_003238.6(TGFB2):c.346+4_346+7del
|
rs1558220436
|
|
NM_003238.6(TGFB2):c.346+5G>A
|
rs886042712
|
|
NM_003238.6(TGFB2):c.377A>G (p.Tyr126Cys)
|
rs2102594799
|
|
NM_003238.6(TGFB2):c.38A>G (p.His13Arg)
|
|
|
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln)
|
rs758366080
|
|
NM_003238.6(TGFB2):c.395T>C (p.Phe132Ser)
|
rs1658868781
|
|
NM_003238.6(TGFB2):c.410T>C (p.Met137Thr)
|
rs1264824521
|
|
NM_003238.6(TGFB2):c.444G>T (p.Glu148Asp)
|
|
|
NM_003238.6(TGFB2):c.445T>G (p.Phe149Val)
|
rs896156575
|
|
NM_003238.6(TGFB2):c.449G>A (p.Arg150Lys)
|
rs1658871071
|
|
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)
|
rs1057518684
|
|
NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys)
|
|
|
NM_003238.6(TGFB2):c.514C>T (p.Leu172Phe)
|
rs1291056000
|
|
NM_003238.6(TGFB2):c.52G>T (p.Ala18Ser)
|
rs886045975
|
|
NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala)
|
|
|
NM_003238.6(TGFB2):c.542C>T (p.Thr181Ile)
|
|
|
NM_003238.6(TGFB2):c.553A>G (p.Ile185Val)
|
rs1558262183
|
|
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly)
|
rs759729701
|
|
NM_003238.6(TGFB2):c.560G>A (p.Ser187Asn)
|
|
|
NM_003238.6(TGFB2):c.594G>T (p.Trp198Cys)
|
rs2102626457
|
|
NM_003238.6(TGFB2):c.598T>G (p.Ser200Ala)
|
|
|
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn)
|
rs1656695125
|
|
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile)
|
rs1659896577
|
|
NM_003238.6(TGFB2):c.619G>A (p.Val207Ile)
|
rs10482810
|
|
NM_003238.6(TGFB2):c.635A>G (p.His212Arg)
|
|
|
NM_003238.6(TGFB2):c.638A>G (p.His213Arg)
|
|
|
NM_003238.6(TGFB2):c.638A>T (p.His213Leu)
|
|
|
NM_003238.6(TGFB2):c.643G>A (p.Asp215Asn)
|
rs1571901234
|
|
NM_003238.6(TGFB2):c.644-14_644-13del
|
|
|
NM_003238.6(TGFB2):c.64_66del (p.Ser22del)
|
rs2102527414
|
|
NM_003238.6(TGFB2):c.663A>T (p.Lys221Asn)
|
rs863223791
|
|
NM_003238.6(TGFB2):c.668G>A (p.Ser223Asn)
|
|
|
NM_003238.6(TGFB2):c.668G>T (p.Ser223Ile)
|
rs957164399
|
|
NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys)
|
|
|
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys)
|
rs1558262454
|
|
NM_003238.6(TGFB2):c.743C>T (p.Ala248Val)
|
|
|
NM_003238.6(TGFB2):c.759_760delinsAT (p.Asp254Tyr)
|
rs1553303162
|
|
NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn)
|
|
|
NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr)
|
|
|
NM_003238.6(TGFB2):c.792G>T (p.Gln264His)
|
|
|
NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)
|
|
|
NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser)
|
|
|
NM_003238.6(TGFB2):c.812G>A (p.Arg271Lys)
|
|
|
NM_003238.6(TGFB2):c.821A>C (p.Asn274Thr)
|
rs559315266
|
|
NM_003238.6(TGFB2):c.831G>T (p.Lys277Asn)
|
rs1304484008
|
|
NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)
|
|
|
NM_003238.6(TGFB2):c.835C>T (p.Pro279Ser)
|
rs1659961526
|
|
NM_003238.6(TGFB2):c.844C>A (p.Leu282Met)
|
|
|
NM_003238.6(TGFB2):c.845T>C (p.Leu282Pro)
|
rs1558263254
|
|
NM_003238.6(TGFB2):c.848T>C (p.Leu283Pro)
|
rs2102628571
|
|
NM_003238.6(TGFB2):c.852G>C (p.Met284Ile)
|
|
|
NM_003238.6(TGFB2):c.874G>A (p.Glu292Lys)
|
|
|
NM_003238.6(TGFB2):c.878C>T (p.Ser293Leu)
|
|
|
NM_003238.6(TGFB2):c.915T>A (p.Asp305Glu)
|
rs1553303217
|
|
NM_003238.6(TGFB2):c.917C>A (p.Ala306Glu)
|
rs989462091
|
|
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
|
|
|
NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro)
|
|
|
NM_003238.6(TGFB2):c.923A>G (p.Tyr308Cys)
|
rs750774144
|
|
NM_003238.6(TGFB2):c.929T>A (p.Phe310Tyr)
|
rs1659965863
|
|
NM_003238.6(TGFB2):c.937G>C (p.Val313Leu)
|
|
|
NM_003238.6(TGFB2):c.949T>C (p.Cys317Arg)
|
rs1660004413
|
|
NM_003238.6(TGFB2):c.950G>C (p.Cys317Ser)
|
rs1553303351
|
|
NM_003238.6(TGFB2):c.971T>C (p.Ile324Thr)
|
rs2102630032
|
|
NM_003238.6(TGFB2):c.976T>C (p.Phe326Leu)
|
rs1660005627
|
|
NM_003238.6(TGFB2):c.978C>A (p.Phe326Leu)
|
|
|
NM_003238.6(TGFB2):c.981G>T (p.Lys327Asn)
|
rs1085307561
|
|
NM_003238.6(TGFB2):c.982A>G (p.Arg328Gly)
|
rs2102630044
|
|
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg)
|
rs1021920873
|
|
NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)
|
|
|
NM_003239.5(TGFB3):c.103A>G (p.Ile35Val)
|
|
|
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu)
|
rs755084678
|
|
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His)
|
rs755894337
|
|
NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs)
|
rs2035148543
|
|
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly)
|
rs2035148476
|
|
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del)
|
rs1257515732
|
|
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=)
|
rs1555360212
|
|
NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)
|
|
|
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu)
|
rs780254258
|
|
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu)
|
rs1446755738
|
|
NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr)
|
rs1060502828
|
|
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)
|
rs1555360033
|
|
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)
|
rs777902992
|
|
NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)
|
|
|
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp)
|
rs759168311
|
|
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
|
|
|
NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro)
|
rs1566677868
|
|
NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala)
|
rs1566677868
|
|
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
|
|
|
NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser)
|
rs899613458
|
|
NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)
|
|
|
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
|
rs1248127840
|
|
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
|
|
|
NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)
|
|
|
NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)
|
|
|
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr)
|
rs765490133
|
|
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
|
|
|
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe)
|
rs2140254535
|
|
NM_003239.5(TGFB3):c.146G>C (p.Ser49Thr)
|
rs2140254503
|
|
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp)
|
rs1441479444
|
|
NM_003239.5(TGFB3):c.155G>A (p.Arg52Lys)
|
|
|
NM_003239.5(TGFB3):c.155G>C (p.Arg52Thr)
|
rs2035417379
|
|
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
|
|
|
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu)
|
rs1594792447
|
|
NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg)
|
|
|
NM_003239.5(TGFB3):c.185T>A (p.Met62Lys)
|
|
|
NM_003239.5(TGFB3):c.186G>A (p.Met62Ile)
|
rs2140254405
|
|
NM_003239.5(TGFB3):c.1A>G (p.Met1Val)
|
rs375153534
|
|
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser)
|
rs1279947435
|
|
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp)
|
rs150817760
|
|
NM_003239.5(TGFB3):c.230G>C (p.Arg77Pro)
|
rs1036545575
|
|
NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser)
|
|
|
NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp)
|
|
|
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His)
|
rs1380630603
|
|
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn)
|
rs986180095
|
|
NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)
|
|
|
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg)
|
rs2035412849
|
|
NM_003239.5(TGFB3):c.352+2dup
|
rs1566686800
|
|
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
|
|
|
NM_003239.5(TGFB3):c.364G>C (p.Val122Leu)
|
|
|
NM_003239.5(TGFB3):c.368G>T (p.Cys123Phe)
|
|
|
NM_003239.5(TGFB3):c.398G>A (p.Arg133His)
|
rs761890018
|
|
NM_003239.5(TGFB3):c.406G>A (p.Val136Met)
|
|
|
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del)
|
rs2035294881
|
|
NM_003239.5(TGFB3):c.40C>A (p.Leu14Met)
|
|
|
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala)
|
rs1422804503
|
|
NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro)
|
rs2140254745
|
|
NM_003239.5(TGFB3):c.428G>A (p.Arg143Lys)
|
rs532403511
|
|
NM_003239.5(TGFB3):c.428G>T (p.Arg143Ile)
|
rs532403511
|
|
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn)
|
rs1594788076
|
|
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
|
|
|
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser)
|
rs752691299
|
|
NM_003239.5(TGFB3):c.458T>A (p.Val153Asp)
|
|
|
NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)
|
|
|
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln)
|
rs925224125
|
|
NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala)
|
rs2035293604
|
|
NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)
|
|
|
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu)
|
rs920721092
|
|
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met)
|
rs148029842
|
|
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys)
|
rs1555360808
|
|
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
|
|
|
NM_003239.5(TGFB3):c.516+4A>T
|
rs1252391096
|
|
NM_003239.5(TGFB3):c.516+5C>T
|
rs2035292365
|
|
NM_003239.5(TGFB3):c.517-3T>C
|
rs2035287934
|
|
NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)
|
|
|
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu)
|
rs2035287327
|
|
NM_003239.5(TGFB3):c.551G>A (p.Arg184His)
|
rs996991722
|
|
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser)
|
rs763289805
|
|
NM_003239.5(TGFB3):c.590C>T (p.Ala197Val)
|
|
|
NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)
|
|
|
NM_003239.5(TGFB3):c.605T>C (p.Phe202Ser)
|
rs2035285904
|
|
NM_003239.5(TGFB3):c.611T>C (p.Val204Ala)
|
rs1555360774
|
|
NM_003239.5(TGFB3):c.622G>A (p.Val208Met)
|
rs2035285476
|
|
NM_003239.5(TGFB3):c.623T>C (p.Val208Ala)
|
|
|
NM_003239.5(TGFB3):c.625C>T (p.Arg209Cys)
|
rs1331488615
|
|
NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)
|
|
|
NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)
|
|
|
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys)
|
rs2140245156
|
|
NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)
|
|
|
NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile)
|
rs2140240288
|
|
NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)
|
|
|
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr)
|
rs1280447804
|
|
NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)
|
|
|
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg)
|
rs2035212440
|
|
NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr)
|
rs2140240237
|
|
NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)
|
|
|
NM_003239.5(TGFB3):c.727C>A (p.His243Asn)
|
rs1045402283
|
|
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val)
|
rs2035211931
|
|
NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe)
|
|
|
NM_003239.5(TGFB3):c.754+5C>T
|
rs754211381
|
|
NM_003239.5(TGFB3):c.754+6_754+10del
|
rs1414628117
|
|
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
|
|
|
NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp)
|
rs2140238325
|
|
NM_003239.5(TGFB3):c.781C>T (p.Arg261Cys)
|
rs560321456
|
|
NM_003239.5(TGFB3):c.782G>A (p.Arg261His)
|
rs547264290
|
|
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu)
|
rs142069844
|
|
NM_003239.5(TGFB3):c.830A>G (p.His277Arg)
|
rs1382239332
|
|
NM_003239.5(TGFB3):c.830_832del (p.His277del)
|
rs1555360376
|
|
NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)
|
|
|
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
|
|
|
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile)
|
rs2035419470
|
|
NM_003239.5(TGFB3):c.842T>C (p.Met281Thr)
|
rs1325349711
|
|
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
|
|
|
NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)
|
|
|
NM_003239.5(TGFB3):c.891G>T (p.Arg297Ser)
|
rs773168068
|
|
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln)
|
rs2035181062
|
|
NM_003239.5(TGFB3):c.901G>A (p.Ala301Thr)
|
rs2035180741
|
|
NM_003239.5(TGFB3):c.907G>C (p.Asp303His)
|
rs2035180646
|
|
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr)
|
rs369281541
|
|
NM_003239.5(TGFB3):c.926G>A (p.Arg309His)
|
rs1057524768
|
|
NM_003239.5(TGFB3):c.927-10T>G
|
rs2140236310
|
|
NM_003239.5(TGFB3):c.927-6T>A
|
rs1555360247
|
|
NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr)
|
rs1194831540
|
|
NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)
|
|
|
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del)
|
rs760903557
|
|
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg)
|
rs2035150933
|
|
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
|
|
|
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu)
|
rs1595337739
|
|
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln)
|
rs771391164
|
|
NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)
|
|
|
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys)
|
rs2035150012
|
|
NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala)
|
rs772698647
|
|
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)
|
|
|
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)
|
rs1246889300
|
|