ClinVar Miner

List of variants reported as uncertain significance for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection by Invitae

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ClinVar version:
Total variants: 1073
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_000138.5(FBN1):c.863-3C>T rs955955089 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_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 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_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_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_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_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.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_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_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.5495G>A (p.Arg1832His) rs764203302 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
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

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