ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 636
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837 0.00008
NM_000138.5(FBN1):c.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln) rs568810058 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) rs564713154 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser) rs751472490 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000138.5(FBN1):c.7204+7C>G rs371763964 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00006
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
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.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile) rs769641351 0.00004
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val) rs794728329 0.00004
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln) rs780972853 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg) rs777826174 0.00004
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=) rs375402043 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile) rs780957696 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00004
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys) rs377149130 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.8308C>T (p.His2770Tyr) rs774658482 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu) rs146044644 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.1668G>A (p.Val556=) rs761662654 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=) rs757177349 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val) rs539103389 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.3610A>G (p.Met1204Val) rs775707895 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile) rs778027769 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg) rs374630707 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.885T>G (p.Ile295Met) rs151056963 0.00003
NM_000138.5(FBN1):c.1370G>A (p.Arg457His) rs141217134 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.169A>C (p.Asn57His) rs2044669685 0.00002
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_000138.5(FBN1):c.2502T>A (p.Ser834=) rs754372754 0.00002
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 0.00002
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val) rs766660415 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val) rs2229324 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.346+6T>G rs371159129 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu) rs758600004 0.00002
NM_000138.5(FBN1):c.6045T>C (p.Asp2015=) rs779825421 0.00002
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=) rs974604498 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.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu) rs775505429 0.00002
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys) rs112310699 0.00002
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro) rs149929989 0.00002
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn) rs1405173549 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val) rs1257581073 0.00001
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp) rs764925097 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.1391G>A (p.Arg464His) rs1166727485 0.00001
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu) rs371985966 0.00001
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile) rs373751659 0.00001
NM_000138.5(FBN1):c.149A>T (p.His50Leu) rs886039132 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.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln) rs763815231 0.00001
NM_000138.5(FBN1):c.1826G>A (p.Arg609His) rs770393471 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp) rs794728180 0.00001
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp) rs1238689648 0.00001
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu) rs1436966674 0.00001
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser) rs766346620 0.00001
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg) rs769708437 0.00001
NM_000138.5(FBN1):c.2106G>T (p.Gln702His) rs778835898 0.00001
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly) rs794728184 0.00001
NM_000138.5(FBN1):c.2127A>C (p.Ala709=) rs886038990 0.00001
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met) rs777526851 0.00001
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys) rs1064793112 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.247+3A>G rs201854371 0.00001
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr) rs751564716 0.00001
NM_000138.5(FBN1):c.2629T>G (p.Ser877Ala) rs1475934502 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg) rs756111066 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser) rs372203315 0.00001
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu) rs922684362 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 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.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 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.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3573T>A (p.Asp1191Glu) rs150912619 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.3688A>C (p.Met1230Leu) rs759424465 0.00001
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) rs573187346 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile) rs1416288007 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser) rs780624885 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln) rs201546777 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser) rs1254024310 0.00001
NM_000138.5(FBN1):c.4639A>G (p.Thr1547Ala) rs2043337594 0.00001
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val) rs772009116 0.00001
NM_000138.5(FBN1):c.4738G>A (p.Val1580Met) rs794728230 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.5063T>C (p.Met1688Thr) rs771444877 0.00001
NM_000138.5(FBN1):c.5065+4A>G rs370287674 0.00001
NM_000138.5(FBN1):c.5065+5G>A rs773660804 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 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.5413G>A (p.Val1805Ile) rs745636786 0.00001
NM_000138.5(FBN1):c.5423-15C>A rs1426894149 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5546-4A>C rs919423974 0.00001
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His) rs779174265 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu) rs895824095 0.00001
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly) rs1057036462 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn) rs768457461 0.00001
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg) rs556131403 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys) rs397515831 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.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 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.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6493G>T (p.Val2165Leu) rs200469438 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.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg) rs759674700 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 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.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.7529A>G (p.Lys2510Arg) rs767602851 0.00001
NM_000138.5(FBN1):c.7571-7C>A rs1229246967 0.00001
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) rs111231879 0.00001
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=) rs1388794275 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.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser) rs756819682 0.00001
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) rs762276905 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg) rs794728340 0.00001
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=) rs112945086 0.00001
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val) rs148741353 0.00001
NM_000138.5(FBN1):c.8461A>C (p.Lys2821Gln) rs794728286 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
GRCh37/hg19 15q21.1(chr15:48784658-48784783)x3
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro) rs779113310
NM_000138.5(FBN1):c.1181T>G (p.Val394Gly) rs1555400427
NM_000138.5(FBN1):c.1208C>T (p.Pro403Leu) rs1555400426
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg) rs779930519
NM_000138.5(FBN1):c.127A>G (p.Lys43Glu) rs751270801
NM_000138.5(FBN1):c.1282C>A (p.Pro428Thr) rs1064796730
NM_000138.5(FBN1):c.1283C>G (p.Pro428Arg)
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1292C>T (p.Pro431Leu) rs2141330893
NM_000138.5(FBN1):c.1304T>C (p.Leu435Pro)
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly) rs1597652333
NM_000138.5(FBN1):c.137G>A (p.Gly46Asp) rs1064797198
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly) rs1555400380
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.150C>A (p.His50Gln) rs1597652302
NM_000138.5(FBN1):c.1526G>T (p.Gly509Val) rs2141327790
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.1566A>T (p.Thr522=) rs531264662
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser) rs963564435
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg) rs1555400063
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn) rs112269822
NM_000138.5(FBN1):c.165-8_165-6delinsGG rs2044669818
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp) rs1555400052
NM_000138.5(FBN1):c.1697A>G (p.Asp566Gly) rs1475101390
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser) rs2044669666
NM_000138.5(FBN1):c.1714+4A>G rs1189850321
NM_000138.5(FBN1):c.1715-8A>G rs1555399978
NM_000138.5(FBN1):c.1718T>C (p.Met573Thr) rs2141321700
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg) rs1085307528
NM_000138.5(FBN1):c.1799C>T (p.Pro600Leu) rs2141321536
NM_000138.5(FBN1):c.1804T>C (p.Phe602Leu) rs2141321516
NM_000138.5(FBN1):c.1836A>T (p.Lys612Asn) rs1597577053
NM_000138.5(FBN1):c.1837G>T (p.Asp613Tyr) rs1555399943
NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly) rs25457
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu) rs1555399833
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro) rs2043697314
NM_000138.5(FBN1):c.1893T>C (p.Thr631=) rs1597574997
NM_000138.5(FBN1):c.1908A>G (p.Arg636=) rs886039089
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu) rs2141317175
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.2022G>C (p.Leu674Phe) rs794728182
NM_000138.5(FBN1):c.2038A>G (p.Lys680Glu)
NM_000138.5(FBN1):c.2042C>A (p.Ser681Tyr) rs1555399766
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del) rs794728298
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro) rs794728183
NM_000138.5(FBN1):c.2075T>G (p.Phe692Cys) rs955639059
NM_000138.5(FBN1):c.2082A>T (p.Glu694Asp)
NM_000138.5(FBN1):c.2084C>A (p.Pro695His) rs1555399754
NM_000138.5(FBN1):c.2090A>C (p.Gln697Pro) rs769708437
NM_000138.5(FBN1):c.2092C>T (p.Pro698Ser) rs1085307625
NM_000138.5(FBN1):c.2114-3C>G rs886042783
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr) rs878853677
NM_000138.5(FBN1):c.2209G>A (p.Gly737Arg) rs1597570356
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala) rs2043616665
NM_000138.5(FBN1):c.2225T>C (p.Leu742Pro) rs1555399377
NM_000138.5(FBN1):c.2294A>G (p.Asp765Gly) rs2141305168
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe)
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys) rs1057522903
NM_000138.5(FBN1):c.2357G>A (p.Gly786Glu)
NM_000138.5(FBN1):c.2360G>T (p.Ser787Ile)
NM_000138.5(FBN1):c.2386T>C (p.Phe796Leu) rs1555399266
NM_000138.5(FBN1):c.2418A>G (p.Glu806=) rs794728191
NM_000138.5(FBN1):c.2420-9_2420-8delinsAGC rs1555399217
NM_000138.5(FBN1):c.2420A>T (p.Asp807Val)
NM_000138.5(FBN1):c.2442T>A (p.Ser814Arg) rs1555399208
NM_000138.5(FBN1):c.2465A>G (p.Lys822Arg) rs2141304281
NM_000138.5(FBN1):c.248-7T>G rs2140734107
NM_000138.5(FBN1):c.2492A>T (p.Glu831Val)
NM_000138.5(FBN1):c.2493A>G (p.Glu831=) rs756410019
NM_000138.5(FBN1):c.2503G>C (p.Glu835Gln)
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg) rs193922190
NM_000138.5(FBN1):c.2530A>G (p.Ile844Val)
NM_000138.5(FBN1):c.2539+10T>A rs878853679
NM_000138.5(FBN1):c.2600A>T (p.Asn867Ile) rs145464311
NM_000138.5(FBN1):c.2621A>C (p.Gln874Pro) rs2043595247
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr) rs781682561
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu) rs1060501091
NM_000138.5(FBN1):c.2728+3A>G rs2141302328
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser) rs1555398992
NM_000138.5(FBN1):c.2792G>A (p.Gly931Glu) rs200078617
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.2891A>T (p.Asp964Val) rs2141297501
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.2909C>A (p.Pro970His) rs751985082
NM_000138.5(FBN1):c.2931G>C (p.Met977Ile) rs759544189
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe) rs2141297315
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.3209-13T>A rs1555398650
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.3275A>T (p.Asp1092Val) rs2043525005
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp) rs1555398626
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln) rs1555407429
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp) rs1064794882
NM_000138.5(FBN1):c.341G>C (p.Arg114Thr)
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg) rs2043517357
NM_000138.5(FBN1):c.346+3A>G
NM_000138.5(FBN1):c.3464-5_3464-4delinsAG rs2141293349
NM_000138.5(FBN1):c.3467T>G (p.Ile1156Ser) rs2043515378
NM_000138.5(FBN1):c.3506G>T (p.Gly1169Val) rs794728330
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.5(FBN1):c.3575G>A (p.Arg1192Lys) rs751764864
NM_000138.5(FBN1):c.3589+6T>C rs766478869
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn) rs758542279
NM_000138.5(FBN1):c.3614A>G (p.Asn1205Ser) rs794728207
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val) rs1555398387
NM_000138.5(FBN1):c.3691C>T (p.Pro1231Ser)
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr) rs1555398377
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.379G>C (p.Gly127Arg) rs1057524165
NM_000138.5(FBN1):c.3806T>C (p.Phe1269Ser)
NM_000138.5(FBN1):c.3838+42C>T
NM_000138.5(FBN1):c.3866A>G (p.Asn1289Ser) rs2141287477
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.4010C>T (p.Ala1337Val) rs866495806
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4027G>A (p.Ala1343Thr) rs2043404775
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) rs1555397656
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro) rs749196340
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) rs1352478541
NM_000138.5(FBN1):c.4189G>A (p.Gly1397Ser)
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.5(FBN1):c.4343A>G (p.Asp1448Gly) rs794728222
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp) rs1555397423
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.4373T>G (p.Phe1458Cys)
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu) rs397515808
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr) rs2043365537
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.5(FBN1):c.4460-9C>A rs372753740
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4516C>T (p.Pro1506Ser) rs794728224
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn) rs1288527435
NM_000138.5(FBN1):c.4561C>A (p.Pro1521Thr) rs794728226
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile) rs2043340600
NM_000138.5(FBN1):c.4583-9G>A rs2043338449
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val) rs2043337939
NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys) rs794728229
NM_000138.5(FBN1):c.466A>G (p.Asn156Asp) rs746352371
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn) rs193922208
NM_000138.5(FBN1):c.4715C>A (p.Thr1572Asn)
NM_000138.5(FBN1):c.472G>A (p.Gly158Arg) rs1555404812
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
NM_000138.5(FBN1):c.4747+3A>C rs1555397145
NM_000138.5(FBN1):c.4816+3A>G
NM_000138.5(FBN1):c.4840C>T (p.Pro1614Ser)
NM_000138.5(FBN1):c.484G>T (p.Ala162Ser) rs193922210
NM_000138.5(FBN1):c.4904C>A (p.Thr1635Asn) rs1460284193
NM_000138.5(FBN1):c.4942+3A>G rs2043313628
NM_000138.5(FBN1):c.4942+4A>G rs397515815
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro) rs1060501079
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser) rs1471557498
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5053AAT[1] (p.Asn1686del) rs2141267592
NM_000138.5(FBN1):c.5120A>G (p.Asp1707Gly)
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del) rs2043292746
NM_000138.5(FBN1):c.5185T>C (p.Trp1729Arg) rs1555396762
NM_000138.5(FBN1):c.5218A>G (p.Ser1740Gly) rs2141266497
NM_000138.5(FBN1):c.5225-3C>A rs876657810
NM_000138.5(FBN1):c.5236A>C (p.Thr1746Pro)
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000138.5(FBN1):c.5256G>T (p.Arg1752Ser) rs1597543480
NM_000138.5(FBN1):c.5270T>A (p.Ile1757Asn) rs2141264003
NM_000138.5(FBN1):c.5278T>G (p.Tyr1760Asp)
NM_000138.5(FBN1):c.5294T>G (p.Val1765Gly) rs2141263957
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp) rs2141260386
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.538+12del rs755209856
NM_000138.5(FBN1):c.5395T>C (p.Tyr1799His)
NM_000138.5(FBN1):c.5404A>C (p.Lys1802Gln) rs2141260313
NM_000138.5(FBN1):c.5409G>T (p.Leu1803Phe) rs906226501
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly) rs2141256116
NM_000138.5(FBN1):c.5440A>G (p.Asn1814Asp) rs1257299340
NM_000138.5(FBN1):c.5466C>G (p.Ala1822=)
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5513G>C (p.Gly1838Ala) rs78970689
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5615T>C (p.Phe1872Ser)
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val) rs1555395977
NM_000138.5(FBN1):c.5643A>C (p.Lys1881Asn) rs1555395975
NM_000138.5(FBN1):c.565G>T (p.Val189Leu) rs2044026712
NM_000138.5(FBN1):c.5672-3T>C rs193922217
NM_000138.5(FBN1):c.5672-4C>G
NM_000138.5(FBN1):c.5672-6T>A rs1555395850
NM_000138.5(FBN1):c.568A>C (p.Ile190Leu) rs147107676
NM_000138.5(FBN1):c.5692G>T (p.Asp1898Tyr)
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile) rs1304811982
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5729G>A (p.Gly1910Asp) rs1566898786
NM_000138.5(FBN1):c.5734T>C (p.Phe1912Leu) rs2141250347
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser) rs867549163
NM_000138.5(FBN1):c.5756G>C (p.Gly1919Ala) rs2141250311
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.5788+4C>T rs577301285
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys) rs2141249307
NM_000138.5(FBN1):c.581T>C (p.Met194Thr)
NM_000138.5(FBN1):c.5894C>G (p.Ala1965Gly)
NM_000138.5(FBN1):c.5898_5912del (p.Asp1967_Cys1971del) rs1555395744
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) rs794728242
NM_000138.5(FBN1):c.5942C>A (p.Pro1981His) rs1555395662
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His) rs794728243
NM_000138.5(FBN1):c.5971A>T (p.Asn1991Tyr) rs794728243
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu) rs1566898093
NM_000138.5(FBN1):c.6048G>T (p.Glu2016Asp)
NM_000138.5(FBN1):c.6085T>A (p.Cys2029Ser) rs1555395477
NM_000138.5(FBN1):c.6094A>G (p.Thr2032Ala)
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe) rs1060501046
NM_000138.5(FBN1):c.6211TCA[1] (p.Ser2072del) rs794728316
NM_000138.5(FBN1):c.6242A>G (p.Gln2081Arg)
NM_000138.5(FBN1):c.6299C>T (p.Pro2100Leu) rs1057524215
NM_000138.5(FBN1):c.6313+5G>A rs878853688
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val) rs1165109120
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val) rs572754741
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.6368A>T (p.Asp2123Val)
NM_000138.5(FBN1):c.6370T>C (p.Ser2124Pro)
NM_000138.5(FBN1):c.6379+5G>C rs1085307875
NM_000138.5(FBN1):c.6379+5G>T
NM_000138.5(FBN1):c.6379+9C>T rs1555395223
NM_000138.5(FBN1):c.6398A>G (p.Glu2133Gly) rs2141240476
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe) rs113080385
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) rs794728250
NM_000138.5(FBN1):c.6470A>G (p.Tyr2157Cys) rs2043077613
NM_000138.5(FBN1):c.6473T>C (p.Ile2158Thr) rs751560904
NM_000138.5(FBN1):c.6496G>C (p.Asp2166His) rs794728252
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu) rs2141237135
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp) rs2141237031
NM_000138.5(FBN1):c.6603G>A (p.Met2201Ile)
NM_000138.5(FBN1):c.6626A>T (p.Glu2209Val) rs1060501072
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys) rs1555394908
NM_000138.5(FBN1):c.6691A>C (p.Lys2231Gln) rs1207479679
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6706T>C (p.Tyr2236His)
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) rs368439899
NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile) rs780960909
NM_000138.5(FBN1):c.6739+5G>A rs2141234929
NM_000138.5(FBN1):c.6740-10T>G rs1456822662
NM_000138.5(FBN1):c.6791A>G (p.Glu2264Gly) rs2141232588
NM_000138.5(FBN1):c.6800A>C (p.Asn2267Thr)
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6854A>T (p.Asp2285Val) rs1160071679
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys) rs551736585
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-4A>G rs1207038649
NM_000138.5(FBN1):c.6872-9A>G rs794728259
NM_000138.5(FBN1):c.6923T>C (p.Leu2308Pro) rs794728260
NM_000138.5(FBN1):c.6926A>G (p.Asn2309Ser) rs2141229964
NM_000138.5(FBN1):c.6943A>G (p.Thr2315Ala) rs1597518834
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val) rs794728261
NM_000138.5(FBN1):c.695G>C (p.Arg232Pro)
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser) rs397515841
NM_000138.5(FBN1):c.6997+4A>C rs727503055
NM_000138.5(FBN1):c.6998-12T>A rs2141229182
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly) rs794728262
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln) rs761248433
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.5(FBN1):c.7021A>G (p.Thr2341Ala) rs1566893526
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) rs794728263
NM_000138.5(FBN1):c.7050C>G (p.Ile2350Met) rs772287755
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) rs397515844
NM_000138.5(FBN1):c.7091G>A (p.Cys2364Tyr) rs1597517925
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg) rs794728264
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7198G>A (p.Gly2400Arg) rs2141228805
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7204+3A>G rs1057518076
NM_000138.5(FBN1):c.7205-3C>G rs2141227114
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser) rs2141226971
NM_000138.5(FBN1):c.7261G>A (p.Asp2421Asn)
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala) rs1266993955
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His) rs2141226433
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7418G>C (p.Gly2473Ala) rs2042971166
NM_000138.5(FBN1):c.7420T>G (p.Tyr2474Asp) rs2141226281
NM_000138.5(FBN1):c.7489C>G (p.Gln2497Glu)
NM_000138.5(FBN1):c.7511T>C (p.Ile2504Thr) rs2141222485
NM_000138.5(FBN1):c.7523C>T (p.Thr2508Ile)
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7616G>A (p.Gly2539Asp) rs1555394203
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.7669T>C (p.Ser2557Pro) rs1057524396
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7699G>A (p.Asp2567Asn)
NM_000138.5(FBN1):c.7754T>A (p.Ile2585Asn)
NM_000138.5(FBN1):c.7759G>A (p.Gly2587Ser) rs2042934369
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly) rs111413134
NM_000138.5(FBN1):c.7776C>T (p.Cys2592=) rs886042134
NM_000138.5(FBN1):c.7783G>A (p.Gly2595Ser) rs2141220661
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val) rs397515857
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg) rs2043995400
NM_000138.5(FBN1):c.7816G>A (p.Val2606Ile) rs1172183618
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7819+4A>G rs794728278
NM_000138.5(FBN1):c.7819+5G>A rs2141220566
NM_000138.5(FBN1):c.7820-3C>A rs193922237
NM_000138.5(FBN1):c.7861T>G (p.Ser2621Ala) rs2042899021
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) rs794728338
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg) rs1060501030
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser) rs794728281
NM_000138.5(FBN1):c.8005_8019del (p.Gly2669_Gly2673del) rs1555393829
NM_000138.5(FBN1):c.8033A>G (p.Tyr2678Cys)
NM_000138.5(FBN1):c.803_811del (p.Ser268_Glu270del) rs794728294
NM_000138.5(FBN1):c.8052-3C>G rs1057524642
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8055C>G (p.His2685Gln) rs1309361114
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.8074A>T (p.Met2692Leu) rs2141211792
NM_000138.5(FBN1):c.8078G>A (p.Gly2693Asp) rs1555393664
NM_000138.5(FBN1):c.8078G>C (p.Gly2693Ala) rs1555393664
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly) rs200309328
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln) rs371375126
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg) rs1555393663
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) rs794728284
NM_000138.5(FBN1):c.8120A>G (p.Asp2707Gly) rs1566889150
NM_000138.5(FBN1):c.8147A>G (p.Tyr2716Cys) rs1555393656
NM_000138.5(FBN1):c.8155A>G (p.Lys2719Glu)
NM_000138.5(FBN1):c.8177G>T (p.Arg2726Leu) rs552157433
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp) rs1371152380
NM_000138.5(FBN1):c.8211T>G (p.Asp2737Glu)
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val) rs1060501088
NM_000138.5(FBN1):c.8281A>G (p.Thr2761Ala)
NM_000138.5(FBN1):c.8284G>A (p.Ala2762Thr) rs2141210059
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp) rs770484928
NM_000138.5(FBN1):c.8408T>C (p.Phe2803Ser) rs2141209869
NM_000138.5(FBN1):c.8412T>G (p.Phe2804Leu) rs794728285
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn) rs2141209854
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu) rs2042858918
NM_000138.5(FBN1):c.8441A>G (p.Tyr2814Cys) rs1597506745
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000138.5(FBN1):c.8504C>T (p.Pro2835Leu)
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
NM_000138.5(FBN1):c.8511T>C (p.Tyr2837=) rs1566888580
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.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile) rs747213800
NM_000138.5(FBN1):c.8603T>G (p.Val2868Gly) rs1555393485
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
NM_000138.5(FBN1):c.867T>G (p.Ile289Met) rs2141343481
NM_000138.5(FBN1):c.878G>A (p.Ser293Asn) rs1597587573
NM_000138.5(FBN1):c.899A>G (p.Glu300Gly) rs1186527816
NM_000138.5(FBN1):c.902G>A (p.Gly301Glu)
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp) rs778831047
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr) rs756687172
NM_000138.5(FBN1):c.95G>A (p.Gly32Glu) rs2140787667
NM_000138.5(FBN1):c.988+3A>G
NM_000138.5(FBN1):c.989-32GT[7] rs147092263

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