ClinVar Miner

List of variants reported as uncertain significance for Marfan and Marfan-related disorder by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2726
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HGVS dbSNP gnomAD frequency
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

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